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Boli A-Z 10q22.3q23.3 Microduplication Syndrome 11p15.4 Microduplication Syndrome 11q22.2q22.3 Microdeletion Syndrome 12q14 Microdeletion Syndrome 12q15q21.1 Microdeletion Syndrome 13q12.3 Microdeletion Syndrome 14q11.2 Microduplication Syndrome 14q12 Microdeletion Syndrome 14q24.1q24.3 Microdeletion Syndrome 16p11.2p12.2 Microduplication Syndrome 16p12.1p12.3 Triplication Syndrome 16p13.11 Microdeletion Syndrome 16p13.11 Microduplication Syndrome 16q24.1 Microdeletion Syndrome 16q24.3 Microdeletion Syndrome 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency 19p13.12 Microdeletion Syndrome 1p21.3 Microdeletion Syndrome 1p35.2 Microdeletion Syndrome 1q44 Microdeletion Syndrome 20p12.3 Microdeletion Syndrome 20p13 Microdeletion Syndrome 20q11.2 Microdeletion Syndrome 20q11.2 Microduplication Syndrome 20q13.33 Microdeletion Syndrome 21q22.11q22.12 Microdeletion Syndrome 2p13.2 Microdeletion Syndrome 2p21 Microdeletion Syndrome Without Cystinuria 2q23.1 Microduplication Syndrome 2q31.1 Microdeletion Syndrome 2q31.1 Microduplication Syndrome 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome 3p25.3 Microdeletion Syndrome 3q26 Microduplication Syndrome 3q26q27 Microdeletion Syndrome 3q27.3 Microdeletion Syndrome 45,x/46,xy Mixed Gonadal Dysgenesis 46,xx Disorder of Sex Development-Anorectal Anomalies Syndrome 46 Xx Gonadal Dysgenesis 46,xx Sex Reversal 1 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs 46 Xy Gonadal Dysgenesis 46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy 46,xy Ovotesticular Disorder of Sex Development 46,xy Partial Gonadal Dysgenesis 46,xy Sex Reversal 8 47,xyy 48,xxxy Syndrome 48,xxyy Syndrome 48,xyyy 49, Xxxxx 49,xxxxy Syndrome 49, Xxxyy Syndrome 49,xyyyy Syndrome 4p16.3 Microduplication Syndrome 5q31.3 Microdeletion Syndrome 5q35 Microduplication Syndrome 6p22 Microdeletion Syndrome 6q16 Deletion Syndrome 6q Terminal Deletion Syndrome 7p22.1 Microduplication Syndrome 7q31 Microdeletion Syndrome 8p11.2 Deletion Syndrome 8p23.1 Duplication Syndrome 8p Inverted Duplication/deletion Syndrome 8q12 Microduplication Syndrome 9p13 Microdeletion Syndrome 9q31.1q31.3 Microdeletion Syndrome 9q33.3q34.11 Microdeletion Syndrome Aarskog-Scott Syndrome Aase-Smith Syndrome I Abidi X-Linked Mental Retardation Syndrome Ablepharon-Macrostomia Syndrome Abnormal Number of Coronary Ostia Abruzzo-Erickson Syndrome Absence of Innominate Vein Absence of the Pulmonary Artery Absent Eyebrows and Eyelashes with Mental Retardation Acalvaria Accessory Mitral Valve Tissue Accessory Pancreas Accessory Tricuspid Valve Tissue Achalasia-Microcephaly Syndrome Acheiria Acheiria, Bilateral Acheiria, Unilateral Acheiropody Achondrogenesis Achondrogenesis, Type Ia Achondrogenesis, Type Ib Achondrogenesis, Type Ii Achondroplasia Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans Acitretin Embryopathy Acitretin/etretinate Embryopathy Ackerman Syndrome Acquired Cutis Laxa Acquired Porencephaly Acquired Pseudoxanthoma Elasticum Acquired Schizencephaly Acrocallosal Syndrome Acrocapitofemoral Dysplasia Acrocephalopolydactylous Dysplasia Acrocephalopolysyndactyly Type Iii Acrocephalopolysyndactyly Type Iv Acrocraniofacial Dysostosis Acrodermatitis Enteropathica, Zinc-Deficiency Type Acrodysostosis Acrodysostosis with Multiple Hormone Resistance Acrodysplasia Scoliosis Acrofacial Dysostosis 1, Nager Type Acrofacial Dysostosis, Catania Type Acrofacial Dysostosis, Kennedy-Teebi Type Acrofacial Dysostosis, Palagonia Type Acrofacial Dysostosis Syndrome of Rodriguez Acrofrontofacionasal Dysostosis Acrofrontofacionasal Dysostosis 1 Acrofrontofacionasal Dysostosis 2 Acromegaloid Facial Appearance Syndrome Acromegaloid Hypertrichosis Syndrome Acromelic Frontonasal Dysostosis Acromesomelic Dysplasia, Hunter-Thompson Type Acromesomelic Dysplasia, Maroteaux Type Acropectoral Syndrome Acropectororenal Dysplasia Acropectorovertebral Dysplasia Acropectorovertebral Dysplasia F Form Acrorenal-Mandibular Syndrome Acrorenal Syndrome Acrorenal Syndrome, Autosomal Recessive Acrorenal Syndrome Recessive Adactylia, Unilateral Adams-Oliver Syndrome Adams-Oliver Syndrome 1 Adams-Oliver Syndrome 2 Adams-Oliver Syndrome 3 Adams-Oliver Syndrome 4 Adams-Oliver Syndrome 5 Adams-Oliver Syndrome 6 Adducted Thumbs Syndrome Adermatoglyphia Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency Adrenal Hyperplasia, Congenital, Due to Steroid 11-Beta-Hydroxylase Deficiency Adrenal Hypoplasia, Congenital, with Absent Pituitary Luteinizing Hormone Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete Adult Botryoid Rhabdomyosarcoma Adult Central Nervous System Choriocarcinoma Adult Central Nervous System Embryonal Carcinoma Adult Endodermal Sinus Tumor Adult Syndrome Agammaglobulinemia, Microcephaly, and Severe Dermatitis Agenesis and Aplasia of Uterine Body Agenesis of the Corpus Callosum with Peripheral Neuropathy Agenesis of the Superior Vena Cava Agnathia-Otocephaly Complex Aicardi Syndrome Aicar Transformylase/imp Cyclohydrolase Deficiency Alagille Syndrome 1 Alagille Syndrome 2 Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus Alazami Syndrome Albinism-Deafness Syndrome Albinism-Microcephaly-Digital Anomalies Syndrome Albinism, Ocular, with Late-Onset Sensorineural Deafness Albinism, Ocular, with Sensorineural Deafness Alcohol-Related Birth Defect Al Gazali Aziz Salem Syndrome Al-Gazali-Bakalinova Syndrome Alobar Holoprosencephaly Alopecia-Contractures-Dwarfism Mental Retardation Syndrome Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related Alpha-Thalassemia/mental Retardation Syndrome, X-Linked Alport Syndrome, Autosomal Dominant Alport Syndrome, Autosomal Recessive Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome Alport Syndrome, X-Linked Alstrom Syndrome Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins Amelia, Autosomal Recessive Amelia of Lower Limb Amelia of Lower Limb, Bilateral Amelia of Lower Limb, Unilateral Amelia of Upper Limb Amelia of Upper Limb, Bilateral Amelia of Upper Limb, Unilateral Amelogenesis Imperfecta Amelogenesis Imperfecta Type 2a1 Amelogenesis Imperfecta, Type Ia Amelogenesis Imperfecta, Type Ib Amelogenesis Imperfecta, Type Ic Amelogenesis Imperfecta, Type Ie Amelogenesis Imperfecta, Type if Amelogenesis Imperfecta, Type Ig Amelogenesis Imperfecta, Type Ih Amelogenesis Imperfecta, Type Iiia Amelogenesis Imperfecta, Type Iiib Amelogenesis Imperfecta, Type Iv Ameloonychohypohidrotic Syndrome Aminopterin/methotrexate Embryofetopathy Aminopterin Syndrome Sine Aminopterin Anal Atresia, Hypospadias, and Penoscrotal Inversion Anauxetic Dysplasia 1 Anauxetic Dysplasia 2 Androgen Insensitivity, Partial Anemia of Prematurity Anencephaly Aneurysm of Interventricular Septum Aneurysm of Sinus of Valsalva Aneurysm or Dilatation of Ascending Aorta Angelman Syndrome Angelman Syndrome Due to a Point Mutation Angelman Syndrome Due to Imprinting Defect in 15q11-Q13 Angelman Syndrome Due to Maternal 15q11q13 Deletion Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15 Angel-Shaped Phalangoepiphyseal Dysplasia Angioma, Hereditary Neurocutaneous Angioma Serpiginosum Angioma Serpiginosum, Autosomal Dominant Angioma, Tufted Angioosteohypertrophic Syndrome Angioosteohypotrophic Syndrome Angiosarcoma Aniridia and Absent Patella Aniridia-Intellectual Disability Syndrome Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation Aniridia - Ptosis - Intellectual Disability - Familial Obesity Ankyloblepharon Filiforme Adnatum and Cleft Palate Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome Ankylosing Vertebral Hyperostosis with Tylosis Anomaly of the Mitral Subvalvular Apparatus Anomaly of the Tricuspid Valve Chordae Anonychia, Total, with Microcephaly Anonychia with Flexural Pigmentation Anophthalmia Megalocornea Cardiopathy Skeletal Anomalies Anorchia Anterior Segment Dysgenesis 1 Anterior Segment Dysgenesis 2 Anterior Segment Dysgenesis 3 Anterior Segment Dysgenesis 4 Anterior Segment Dysgenesis 5 Anterior Segment Dysgenesis 6 Anterior Segment Dysgenesis 7 Anterior Segment Dysgenesis 8 Anterior Urethral Valve Antihypertensive Drugs Antenatal Exposure Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis Aortic Arch Anomaly with Peculiar Facies and Mental Retardation Aortic Arch Interruption Aortic Valve Atresia Aortic Valve Disease 1 Aortic Valve Disease 2 Aortic Valve Dysplasia Aortic Valve Insufficiency Aorto-Left Ventricular Tunnel Aortopulmonary Coronary Arterial Course Aortopulmonary Window Aorto-Right Ventricular Tunnel Aorto-Ventricular Tunnel Apert Syndrome Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal Iv Aphalangy with Hemivertebrae Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction Aplasia Cutis Congenita with Intestinal Lymphangiectasia Apodia Apodia, Bilateral Apodia, Unilateral Aprosencephaly and Cerebellar Dysgenesis Aprosencephaly Syndrome Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome Arachnodactyly - Intellectual Disability - Dysmorphism Arachnoid Cysts Aredyld Armfield X-Linked Mental Retardation Syndrome Aromatase Deficiency Arterial Tortuosity Syndrome Arteriovenous Fistula Arteriovenous Malformations of the Brain Arthrochalasia Ehlers-Danlos Syndrome Arthrogryposis and Ectodermal Dysplasia Arthrogryposis, Distal, Type 10 Arthrogryposis, Distal, Type 1a Arthrogryposis, Distal, Type 1b Arthrogryposis, Distal, Type 2a Arthrogryposis, Distal, Type 2e Arthrogryposis, Distal, Type 3 Arthrogryposis, Distal, Type 4 Arthrogryposis, Distal, Type 5 Arthrogryposis, Distal, Type 5d Arthrogryposis, Distal, Type 6 Arthrogryposis, Distal, Type 7 Arthrogryposis, Distal, Type 8 Arthrogryposis, Distal, Type 9 Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay Arthrogryposis, Mental Retardation, and Seizures Arthrogryposis Multiplex Congenita, Neurogenic Type Arthrogryposis with Hyperkeratosis Arts Syndrome Ascites, Chylous Asphyxia Neonatorum Asplenia, Isolated Congenital Astley-Kendall Syndrome Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus Ataxia-Deafness-Retardation Syndrome Ataxia-Photosensitivity-Short Stature Syndrome Ataxia-Telangiectasia Ataxia-Telangiectasia-Like Disorder 1 Ataxia-Telangiectasia-Like Disorder 2 Atelosteogenesis Atelosteogenesis, Type I Atelosteogenesis, Type Ii Atelosteogenesis, Type Iii Athabaskan Brainstem Dysgenesis Syndrome Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease Atkin-Flaitz Syndrome Atp6v0a2-Related Cutis Laxa Atresia of Urethra Atrial Septal Aneurysm Atrial Septal Defect 7 with or Without Atrioventricular Conduction Defects Atrial Septal Defect Coronary Sinus Atrial Septal Defect Ostium Primum Atrial Septal Defect Sinus Venosus Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects Atypical Coarctation of Aorta Atypical Norrie Disease Due to Monosomy Xp11.3 Atypical Werner Syndrome Au-Kline Syndrome Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation Auricular Abnormalities-Cleft Lip with or Without Cleft Palate-Ocular Abnormalities Syndrome Auriculo-Condylar Syndrome Auriculoosteodysplasia Autoimmune Disease, Multisystem, with Facial Dysmorphism Autosomal Dominant Coarctation of Aorta Autosomal Dominant Deafness-Onychodystrophy Syndrome Autosomal Dominant Intellectual Disability 30 Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome Autosomal Dominant Nonsyndromic Deafness Autosomal Dominant Palmoplantar Keratoderma and Congenital Alopecia Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome Autosomal Dominant Robinow Syndrome Autosomal Dominant Trichoodontoonychodysplasia-Syndactyly Autosomal Recessive Congenital Ichthyosis Autosomal Recessive Cutis Laxa Type 2, Classic Type Autosomal Recessive Hypophosphatemic Rickets Autosomal Recessive Intellectual Disability 58 Autosomal Recessive Malignant Osteopetrosis Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract Autosomal Recessive Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness 3 Autosomal Recessive Nonsyndromic Deafness 36 Autosomal Recessive Nonsyndromic Deafness 86 Autosomal Recessive Palmoplantar Keratoderma and Congenital Alopecia Autosomal Recessive Primary Microcephaly Autosomal Recessive Stickler Syndrome Autosomal Recessive Type Iv Ehlers-Danlos Syndrome Axenfeld-Rieger Syndrome Axenfeld-Rieger Syndrome, Type 1 Axenfeld-Rieger Syndrome, Type 2 Axenfeld-Rieger Syndrome, Type 3 Axial Mesodermal Dysplasia Spectrum Ayme-Gripp Syndrome Azygos Continuation of the Inferior Vena Cava Bainbridge-Ropers Syndrome Baller-Gerold Syndrome Banki Syndrome Bannayan-Riley-Ruvalcaba Syndrome Barber-Say Syndrome Bardet-Biedl Syndrome Bardet-Biedl Syndrome 1 Bardet-Biedl Syndrome 10 Bardet-Biedl Syndrome 11 Bardet-Biedl Syndrome 12 Bardet-Biedl Syndrome 13 Bardet-Biedl Syndrome 14 Bardet-Biedl Syndrome 15 Bardet-Biedl Syndrome 16 Bardet-Biedl Syndrome 17 Bardet-Biedl Syndrome 18 Bardet-Biedl Syndrome 19 Bardet-Biedl Syndrome 2 Bardet-Biedl Syndrome 20 Bardet-Biedl Syndrome 21 Bardet-Biedl Syndrome 3 Bardet-Biedl Syndrome 4 Bardet-Biedl Syndrome 5 Bardet-Biedl Syndrome 6 Bardet-Biedl Syndrome 7 Bardet-Biedl Syndrome 8 Bardet-Biedl Syndrome 9 Basal Cell Nevus Syndrome Basal Encephalocele Basel-Vanagaite-Smirin-Yosef Syndrome Beare-Stevenson Cutis Gyrata Syndrome Beaulieu-Boycott-Innes Syndrome Becker Nevus Syndrome Beckwith-Wiedemann Syndrome Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion Beckwith-Wiedemann Syndrome Due to 11p15 Microduplication Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/inversion Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11 Beemer Lethal Malformation Syndrome Benallegue Lacete Syndrome Bent Bone Dysplasia Syndrome Beukes Hip Dysplasia Bicervical Bicornuate Uterus and Blind Hemivagina Bicervical Bicornuate Uterus with Patent Cervix and Vagina Biemond Syndrome Biemond Syndrome Ii Biemond Syndrome Type 1 Bifid Nose Bifid Nose with or Without Anorectal and Renal Anomalies Bilateral Frontal Polymicrogyria Bilateral Generalized Polymicrogyria Bilateral Multicystic Dysplastic Kidney Bilateral Polymicrogyria Bilateral Renal Agenesis Dominant Type Biliary Atresia, Extrahepatic Biliary Atresia with Splenic Malformation Syndrome Bipartite Talus Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex Blake Pouch Cyst Blastoma Blepharochalasis and Double Lip Blepharocheilodontic Syndrome 1 Blepharocheilodontic Syndrome 2 Blepharonasofacial Malformation Syndrome Blepharophimosis, Ptosis, and Epicanthus Inversus Blepharophimosis with Facial and Genital Anomalies and Mental Retardation Blepharophimosis with Ptosis, Syndactyly, and Short Stature Blepharoptosis, Myopia, and Ectopia Lentis Bloom Syndrome Blount's Disease Blount Disease, Infantile Blue Rubber Bleb Nevus Bohring-Opitz Syndrome Bone Dysplasia, Lethal, Holmgren Type Bone Fragility with Contractures, Arterial Rupture, and Deafness Bone Mineral Density Quantitative Trait Locus 18 Book Syndrome Borjeson-Forssman-Lehmann Syndrome Bosma Arhinia Microphthalmia Syndrome Botryoid Rhabdomyosarcoma Bowen-Conradi Syndrome Bowing of Long Bones Congenital Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation Brachydactyly Brachydactyly, Combined B and E Types Brachydactyly-Distal Symphalangism Syndrome Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome Brachydactyly, Mononen Type Brachydactyly-Nystagmus-Cerebellar Ataxia Brachydactyly of Toes Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction Brachydactyly-Syndactyly Syndrome Brachydactyly, Type A1 Brachydactyly, Type A1, B Brachydactyly, Type A1, C Brachydactyly, Type A1, D Brachydactyly, Type A2 Brachydactyly, Type A3 Brachydactyly, Type A4 Brachydactyly Type A5 Brachydactyly Type A7 Brachydactyly, Type B1 Brachydactyly, Type B2 Brachydactyly, Type C Brachydactyly, Type D Brachydactyly, Type E1 Brachydactyly, Type E2 Brachymetapody-Anodontia-Hypotrichosis-Albinoidism Brachymorphism-Onychodysplasia-Dysphalangism Syndrome Brachyolmia Brachyolmia Type 2 Brachyolmia Type 3 Brachyolmia Type 4 with Mild Epiphyseal and Metaphyseal Changes Brachytelephalangy with Characteristic Facies and Kallmann Syndrome Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome Brain Malformations with or Without Urinary Tract Defects Branchial Arch Syndrome, X-Linked Branchial Cleft Anomalies Branchiogenic-Deafness Syndrome Branchiooculofacial Syndrome Branchiootic Syndrome Branchiootic Syndrome 1 Branchiootic Syndrome 2 Branchiootic Syndrome 3 Branchiootorenal Spectrum Disorders Branchiootorenal Syndrome Branchiootorenal Syndrome 1 Branchiootorenal Syndrome 2 Brittle Bone Disorder Brittle Cornea Syndrome 1 Brittle Cornea Syndrome 2 Bronchogenic Cyst Bronchomalacia Bronchopulmonary Dysplasia Bruck Syndrome Bruck Syndrome 1 Bruck Syndrome 2 Buschke-Ollendorff Syndrome Caffey Disease Cahmr Syndrome Calvarial Hyperostosis Campomelia, Cumming Type Campomelic Dysplasia Camptobrachydactyly Camptodactyly 1 Camptodactyly Syndrome, Guadalajara, Type I Camptodactyly Syndrome, Guadalajara, Type Ii Camptodactyly Syndrome, Guadalajara, Type Iii Camptodactyly, Tall Stature, and Hearing Loss Syndrome Camptodactyly Taurinuria Camurati-Engelmann Disease Camurati-Engelmann Disease, Type 2 Cantú Syndrome and Related Disorders Cantu Syndrome Capillary Malformation-Arteriovenous Malformation Capillary Malformation of the Lower Lip, Lymphatic Malformation of Face and Neck, Asymmetry of Face and Limbs, and Partial/generalized Overgrowth Capillary Malformations, Congenital Cardiac Anomalies-Heterotaxy Syndrome Cardiac Diverticulum Cardiac Valvular Dysplasia, X-Linked Cardiofaciocutaneous Syndrome 1 Cardiofaciocutaneous Syndrome 2 Cardiofaciocutaneous Syndrome 3 Cardiofaciocutaneous Syndrome 4 Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma Cardiomyopathy, Fatal Fetal, Due to Myocardial Calcification Cardioskeletal Syndrome, Kuwaiti Type Cardiospondylocarpofacial Syndrome Carey-Fineman-Ziter Syndrome Carney Complex, Type 1 Carney Complex, Type 2 Carney Complex Variant Caroli Disease, Isolated Carpenter Syndrome 1 Carpenter Syndrome 2 Cataract Cataract 10, Multiple Types Cataract 11, Multiple Types Cataract 12, Multiple Types Cataract 14, Multiple Types Cataract 15, Multiple Types Cataract 16, Multiple Types Cataract 17, Multiple Types Cataract 18 Cataract 19, Multiple Types Cataract 1, Multiple Types Cataract 20, Multiple Types Cataract 21, Multiple Types Cataract 22, Multiple Types Cataract 23, Multiple Types Cataract 24 Cataract 25 Cataract 26, Multiple Types Cataract 27 Cataract 28 Cataract 29 Cataract 2, Multiple Types Cataract 30 Cataract 30, Multiple Types Cataract 31, Multiple Types Cataract 32, Multiple Types Cataract 33 Cataract 33, Multiple Types Cataract 34, Multiple Types Cataract 35 Cataract 36 Cataract 37 Cataract 38 Cataract 39, Multiple Types Cataract 3, Multiple Types Cataract 40 Cataract 41 Cataract 42 Cataract 43 Cataract 44 Cataract 45 Cataract 46, Juvenile-Onset Cataract 47 Cataract 4, Multiple Types Cataract 5, Multiple Types Cataract 6, Multiple Types Cataract 7 Cataract 8, Multiple Types Cataract 9, Multiple Types Cataract, Aberrant Oral Frenula, and Growth Retardation Cataract, Age-Related Nuclear Cataract-Ataxia-Deafness-Retardation Syndrome Cataract Congenital Autosomal Dominant Cataract-Deafness-Hypogonadism Syndrome Cataract-Glaucoma Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome Cataract Microcornea Syndrome Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia Cataract, Total Congenital Catel-Manzke Syndrome Cat Eye Syndrome Caudal Appendage Deafness Caudal Duplication Anomaly Cayler Cardiofacial Syndrome Celosomia Cenani-Lenz Syndactyly Syndrome Central Bilateral Macrogyria Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome Central Nervous System Embryonal Carcinoma Central Polydactyly of Fingers Central Polydactyly of Fingers, Bilateral Central Polydactyly of Fingers, Unilateral Centripetalis Recessive Dystrophic Epidermolysis Bullosa Cerebellar Ataxia and Ectodermal Dysplasia Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation Cerebellar Hypoplasia Cerebellar Hypoplasia with Endosteal Sclerosis Cerebellofaciodental Syndrome Cerebral-Cerebellar-Coloboma Syndrome, X-Linked Cerebral Creatine Deficiency Syndrome 1 Cerebral Gigantism Jaw Cysts Cerebrocostomandibular-Like Syndrome Cerebrocostomandibular Syndrome Cerebrofacial Arteriovenous Metameric Syndrome Type 1 Cerebrofacial Arteriovenous Metameric Syndrome Type 3 Cerebrooculonasal Syndrome Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula Cervical Aortic Arch Cervical Dermoid Cyst Cervical Spina Bifida Aperta Cervical Spina Bifida Cystica Cervicofacial Fibrochondroma Cervicothoracic Spina Bifida Aperta Cervicothoracic Spina Bifida Cystica Charcot-Marie-Tooth Disease and Deafness Charcot-Marie-Tooth Disease, Demyelinating, Type 1a Charcot-Marie-Tooth Disease, Demyelinating, Type 1b Charcot-Marie-Tooth Disease, Demyelinating, Type 1c Charcot-Marie-Tooth Disease, Demyelinating, Type 1d Charcot-Marie-Tooth Disease, Demyelinating, Type 1f Charcot-Marie-Tooth Disease, Demyelinating, Type 4f Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 Charlie M Syndrome Char Syndrome Cheirospondyloenchondromatosis Cherubism Chiari Malformation Chiari Malformation Type 3 Chiari Malformation Type 4 Chiari Malformation Type I Chiari Malformation Type Ii Childhood Botryoid Rhabdomyosarcoma Childhood Choriocarcinoma of the Ovary Childhood Choriocarcinoma of the Testis Childhood Embryonal Testis Carcinoma Childhood Ovarian Embryonal Carcinoma Childhood Teratocarcinoma of the Testis Childhood Vagina Botryoid Rhabdomyosarcoma Choanal Atresia and Lymphedema Choanal Atresia, Bilateral Choanal Atresia, Posterior Choanal Atresia, Unilateral Cholestasis-Lymphedema Syndrome Chondrodysplasia, Blomstrand Type Chondrodysplasia, Grebe Type Chondrodysplasia Lethal Recessive Chondrodysplasia-Pseudohermaphroditism Syndrome Chondrodysplasia Punctata 1, X-Linked Chondrodysplasia Punctata 1, X-Linked Recessive Chondrodysplasia Punctata 2, X-Linked Chondrodysplasia Punctata 2, X-Linked Dominant Chondrodysplasia Punctata, Autosomal Dominant Chondrodysplasia Punctata, Brachytelephalangic, Autosomal Chondrodysplasia Punctata Syndrome Chondrodysplasia Punctata, Tibia-Metacarpal Type Chondrodysplasia with Joint Dislocations, Gpapp Type Chondroectodermal Dysplasia with Night Blindness Chops Syndrome Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction Chorioamnionitis Choriocarcinoma Choriocarcinoma of Ovary Choriocarcinoma of the Central Nervous System Choriocarcinoma of the Testis Choroideremia, Deafness, and Mental Retardation Chromosome 10p Duplication Chromosome 10q22.3-Q23.2 Deletion Syndrome Chromosome 10q26 Deletion Syndrome Chromosome 10, Uniparental Disomy Chromosome 12p Duplication Chromosome 13q14 Deletion Syndrome Chromosome 14q11-Q22 Deletion Syndrome Chromosome 14q32 Duplication Syndrome, 700-Kb Chromosome 15q11.2 Deletion Syndrome Chromosome 15q11-Q13 Duplication Syndrome Chromosome 15q13.3 Deletion Syndrome Chromosome 15q14 Deletion Syndrome Chromosome 15q26-Qter Deletion Syndrome Chromosome 16p11.2 Deletion Syndrome, 220-Kb Chromosome 16p11.2 Deletion Syndrome, 593-Kb Chromosome 16p11.2 Duplication Syndrome Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb Chromosome 16p13.3 Deletion Syndrome, Proximal Chromosome 16p13.3 Duplication Syndrome Chromosome 16 Trisomy Chromosome 16, Uniparental Disomy Chromosome 17p13.1 Deletion Syndrome Chromosome 17p13.3, Centromeric, Duplication Syndrome Chromosome 17p Duplication Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb Chromosome 17q12 Deletion Syndrome Chromosome 17q12 Duplication Syndrome Chromosome 17q21.31 Duplication Syndrome Chromosome 17q23.1-Q23.2 Deletion Syndrome Chromosome 17q23.1-Q23.2 Duplication Syndrome Chromosome 17q Deletion Chromosome 18p Deletion Syndrome Chromosome 18p Duplication Chromosome 18q Deletion Syndrome Chromosome 19p13.13 Deletion Syndrome Chromosome 19q13.11 Deletion Syndrome, Distal Chromosome 1p36 Deletion Syndrome Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb Chromosome 1q21.1 Duplication Syndrome Chromosome 1q41-Q42 Deletion Syndrome Chromosome 20p Duplication Chromosome 20 Trisomy Chromosome 21, Uniparental Disomy Chromosome 22q11.2 Deletion Syndrome, Distal Chromosome 22q11.2 Duplication Syndrome Chromosome 2p16.1-P15 Deletion Syndrome Chromosome 2q24 Microdeletion Syndrome Chromosome 2q35 Duplication Syndrome Chromosome 2q37 Deletion Syndrome Chromosome 3pter-P25 Deletion Syndrome Chromosome 3q13.31 Deletion Syndrome Chromosome 3q29 Deletion Syndrome Chromosome 3q29 Duplication Syndrome Chromosome 4p Duplication Chromosome 4q21 Deletion Syndrome Chromosome 5p13 Duplication Syndrome Chromosome 5p Duplication Chromosome 5q12 Deletion Syndrome Chromosome 5, Uniparental Disomy Chromosome 6pter-P24 Deletion Syndrome Chromosome 6q24-Q25 Deletion Syndrome Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb Chromosome 8p23.1 Deletion Chromosome 8p Duplication Chromosome 8q21.11 Deletion Syndrome Chromosome 8q22.1 Duplication Syndrome Chromosome 8q Duplication Chromosome 9p Deletion Syndrome Chromosome 9p Duplication Chromosome Xp11.23-P11.22 Duplication Syndrome Chromosome Xp11.3 Deletion Syndrome Chromosome Xp21 Deletion Syndrome Chromosome Xq26.3 Duplication Syndrome Chronic Intestinal Failure Chudley-Mccullough Syndrome Cinca Syndrome Ck Syndrome Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Salt Wasting Form Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Simple Virilizing Form Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency Clavicle, Pseudarthrosis of, Congenital Cleft Hard Palate Cleft Larynx, Posterior Cleft-Limb-Heart Malformation Syndrome Cleft Lip and Alveolus Cleft Lip/palate Cleft Lip/palate-Deafness-Sacral Lipoma Syndrome Cleft Lip/palate with Abnormal Thumbs and Microcephaly Cleft Lip/palate with Characteristic Facies, Intestinal Malrotation, and Lethal Congenital Heart Disease Cleft Lip-Retinopathy Syndrome Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal Mucosa Cleft Mitral Valve Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly Cleft Palate, Deafness, and Oligodontia Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features Cleft Palate Short Stature Vertebral Anomalies Cleft Palate with or Without Ankyloglossia, X-Linked Cleft Soft Palate Cleidocranial Dysplasia Cleidocranial Dysplasia, Recessive Form Cleidocranial Dysplasia Spectrum Disorder Cleidorhizomelic Syndrome Closed Iniencephaly Clouston Syndrome Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly Coach Syndrome Coarctation of Aorta Coats Disease Cobb Syndrome Cocaine Antenatal Exposure Cocaine Embryofetopathy Cochleosaccular Degeneration with Progressive Cataracts Cockayne Syndrome Cockayne Syndrome a Cockayne Syndrome B Cockayne Syndrome Type I Cockayne Syndrome Type Ii Cockayne Syndrome Type Iii Cocoon Syndrome Codas Syndrome Coenzyme Q10 Deficiency, Primary, 6 Coffin-Lowry Syndrome Coffin-Siris Syndrome 1 Coffin-Siris Syndrome 2 Coffin-Siris Syndrome 3 Coffin-Siris Syndrome 4 Coffin-Siris Syndrome 5 Coffin-Siris Syndrome 6 Cogan-Reese Syndrome Cole-Carpenter Syndrome Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome Coloboma, Ocular, Autosomal Dominant Coloboma, Ocular, Autosomal Recessive Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation Coloboma of Eye Lens Coloboma of Eyelid Coloboma of Inferior Eyelid Coloboma of Macula Coloboma of Macula and Skeletal Anomalies Coloboma of Optic Nerve Coloboma of Superior Eyelid Colobomatous Microphthalmia Colonic Atresia Combined Oxidative Phosphorylation Deficiency 25 Commissural Lip Fistula Common Mesentery Communicating Congenital Bronchopulmonary-Foregut Malformation Communicating Hydrocephalus Complete Androgen Insensitivity Syndrome Complete Atrioventricular Canal Complete Atrioventricular Canal-Left Heart Obstruction Syndrome Complete Atrioventricular Canal-Tetralogy of Fallot Syndrome Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome Complete Cryptophthalmia Complete Septate Uterus Composite Hemangioendothelioma Congenital Absence/hypoplasia of Thumb Congenital Absence/hypoplasia of Thumb, Bilateral Congenital Absence/hypoplasia of Thumb, Unilateral Congenital Absence of Both Forearm and Hand Congenital Absence of Both Forearm and Hand, Bilateral Congenital Absence of Both Forearm and Hand, Unilateral Congenital Absence of Both Lower Leg and Foot Congenital Absence of Both Lower Leg and Foot, Bilateral Congenital Absence of Both Lower Leg and Foot, Unilateral Congenital Absence of Thigh and Lower Leg with Foot Present Congenital Absence of Thigh and Lower Leg with Foot Present, Bilateral Congenital Absence of Thigh and Lower Leg with Foot Present, Unilateral Congenital Absence of Upper Arm and Forearm with Hand Present Congenital Absence of Upper Arm and Forearm with Hand Present, Bilateral Congenital Absence of Upper Arm and Forearm with Hand Present, Unilateral Congenital Achiasma Congenital Agenesis of the Scrotum Congenital Amyoplasia Congenital Anomalies of Kidney and Urinary Tract 1 Congenital Anomalies of Kidney and Urinary Tract 2 Congenital Anomaly of Hepatic Vein Congenital Aortic Valve Insufficiency Congenital Aortopulmonary Window Congenital Bilateral Megacalycosis Congenital Bronchobiliary Fistula Congenital Cataracts, Facial Dysmorphism, and Neuropathy Congenital Communicating Hydrocephalus Congenital Complete Agenesis of Pericardium Congenital Coronary Artery Aneurysm Congenital Cytomegalovirus Congenital Dislocation of the Patella Congenital Disorder of Glycosylation, Type Ia Congenital Disorder of Glycosylation, Type Ib Congenital Disorder of Glycosylation, Type Ic Congenital Disorder of Glycosylation, Type Id Congenital Disorder of Glycosylation, Type Ie Congenital Disorder of Glycosylation, Type if Congenital Disorder of Glycosylation, Type Ig Congenital Disorder of Glycosylation, Type Ih Congenital Disorder of Glycosylation, Type Ii Congenital Disorder of Glycosylation, Type Iia Congenital Disorder of Glycosylation, Type Iib Congenital Disorder of Glycosylation, Type Iic Congenital Disorder of Glycosylation, Type Iid Congenital Disorder of Glycosylation, Type Iif Congenital Disorder of Glycosylation, Type Iig Congenital Disorder of Glycosylation, Type Iih Congenital Disorder of Glycosylation, Type Iii Congenital Disorder of Glycosylation, Type I/iix Congenital Disorder of Glycosylation, Type Iij Congenital Disorder of Glycosylation, Type Iik Congenital Disorder of Glycosylation, Type Iil Congenital Disorder of Glycosylation, Type Iim Congenital Disorder of Glycosylation, Type Iin Congenital Disorder of Glycosylation, Type Iio Congenital Disorder of Glycosylation, Type Iip Congenital Disorder of Glycosylation, Type Iiq Congenital Disorder of Glycosylation, Type Ij Congenital Disorder of Glycosylation, Type Ik Congenital Disorder of Glycosylation, Type Il Congenital Disorder of Glycosylation, Type Im Congenital Disorder of Glycosylation, Type in Congenital Disorder of Glycosylation, Type Io Congenital Disorder of Glycosylation, Type Ip Congenital Disorder of Glycosylation, Type Iq Congenital Disorder of Glycosylation, Type Ir Congenital Disorder of Glycosylation, Type It Congenital Disorder of Glycosylation, Type Iu Congenital Disorder of Glycosylation, Type Iw Congenital Disorder of Glycosylation, Type Ix Congenital Disorder of Glycosylation, Type Iy Congenital Ectropion Uveae Congenital Elbow Dislocation, Bilateral Congenital Elbow Dislocation, Unilateral Congenital Enterovirus Infection Congenital Epstein-Barr Virus Infection Congenital Esophageal Diverticulum Congenital Generalized Hypercontractile Muscle Stiffness Syndrome Congenital Genu Flexum Congenital Genu Recurvatum Congenital Gerbode Defect Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects Congenital Hereditary Facial Paralysis-Variable Hearing Loss Syndrome Congenital Herpes Simplex Virus Infection Congenital Knee Dislocation Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome Congenital Laryngeal Cyst Congenital Laryngeal Palsy Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi Congenitally Corrected Transposition of the Great Arteries Congenitally Uncorrected Transposition of the Great Arteries with Cardiac Malformation Congenitally Uncorrected Transposition of the Great Arteries with Coarctation Congenital Megacalycosis Congenital Microgastria Congenital Mitral Stenosis Congenital Nasal Pyriform Aperture Stenosis with Holoprosencephaly Congenital Non-Communicating Hydrocephalus Congenital Partial Agenesis of Pericardium Congenital Partial Pulmonary Venous Return Anomaly Congenital Patella Dislocation, Bilateral Congenital Patella Dislocation, Unilateral Congenital Patent Ductus Arteriosus Aneurysm Congenital Portosystemic Shunt Congenital Primary Megaureter Congenital Primary Megaureter, Nonrefluxing and Unobstructed Form Congenital Primary Megaureter, Obstructed Form Congenital Primary Megaureter, Refluxing Form Congenital Pseudoarthrosis of the Femur Congenital Pseudoarthrosis of the Fibula Congenital Pseudoarthrosis of the Limbs Congenital Pseudoarthrosis of the Radius Congenital Pseudoarthrosis of the Tibia Congenital Pseudoarthrosis of the Ulna Congenital Pulmonary Airway Malformation Type 0 Congenital Pulmonary Airway Malformation Type 1 Congenital Pulmonary Airway Malformation Type 2 Congenital Pulmonary Airway Malformation Type 3 Congenital Pulmonary Airway Malformation Type 4 Congenital Pulmonary Sequestration Congenital Pulmonary Veins Atresia or Stenosis Congenital Radioulnar Synostosis Congenital Rubella Congenital Short Bowel Syndrome Congenital Shoulder Dislocation Congenital Sialidosis Type 2 Congenital Stenosis of the Inferior Vena Cava Congenital Subglottic Stenosis Congenital Supravalvular Mitral Ring Congenital Symblepharon Congenital Systemic Arteriovenous Fistula Congenital Toxoplasmosis Congenital Tricuspid Stenosis Congenital Unguarded Mitral Orifice Congenital Varicella Syndrome Congenital Vertical Talus, Bilateral Congenital Vertical Talus, Unilateral Cono-Spondylar Dysplasia Conotruncal Heart Malformations Constricting Bands, Congenital Contractures, Congenital, Torticollis, and Malignant Hyperthermia Contractures-Developmental Delay-Pierre Robin Syndrome Contractures-Webbed Neck-Micrognathia-Hypoplastic Nipples Syndrome Cordiform Uterus Corneal Dystrophy and Perceptive Deafness Corneal Dystrophy, Posterior Polymorphous, 1 Corneal Dystrophy, Posterior Polymorphous, 2 Corneal Dystrophy, Posterior Polymorphous, 3 Corneal Endothelial Dystrophy Corneal Endothelial Dystrophy Type 2 Corneal Hypesthesia with Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, and Mental Retardation Cornelia De Lange Syndrome Cornelia De Lange Syndrome 1 Cornelia De Lange Syndrome 2 Cornelia De Lange Syndrome 3 Cornelia De Lange Syndrome 4 Cornelia De Lange Syndrome 5 Corneodermatoosseous Syndrome Coronary Arterial Fistulas Coronary Artery Aneurysm Coronary Artery Intramyocardial Course Coronary Sinus Atresia Coronary Sinus Stenosis Corpus Callosum Agenesis Double Urinary Collecting Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome Corpus Callosum, Agenesis of, with Abnormal Genitalia Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia Corpus Callosum, Partial Agenesis of, X-Linked Cortical Blindness, Retardation, and Postaxial Polydactyly Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta Cortical Dysplasia, Complex, with Other Brain Malformations 1 Cortical Dysplasia, Complex, with Other Brain Malformations 7 Cortical Dysplasia, Complex, with Other Brain Malformations 8 Cortical Malformations, Occipital Cor Triatriatum Dexter Cor Triatriatum Sinister Costello Syndrome Cousin Syndrome Cowchock Syndrome Cowden Disease Cowden Syndrome 1 Cowden Syndrome 2 Cowden Syndrome 3 Cowden Syndrome 4 Cowden Syndrome 5 Cowden Syndrome 6 Cowden Syndrome 7 Coxoauricular Syndrome Crane-Heise Syndrome Cranial Meningocele Craniodiaphyseal Dysplasia Craniodiaphyseal Dysplasia, Autosomal Dominant Cranioectodermal Dysplasia 1 Cranioectodermal Dysplasia 2 Cranioectodermal Dysplasia 3 Cranioectodermal Dysplasia 4 Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation Craniofacial Conodysplasia Craniofacial-Deafness-Hand Syndrome Craniofacial Dysostosis with Diaphyseal Hyperplasia Craniofacial Dyssynostosis with Short Stature Craniofaciofrontodigital Syndrome Craniofrontonasal Syndrome Craniolenticulosutural Dysplasia Craniometadiaphyseal Dysplasia Craniometaphyseal Dysplasia, Autosomal Dominant Craniometaphyseal Dysplasia, Autosomal Recessive Craniomicromelic Syndrome Craniorachischisis Craniorhiny Craniostenosis, Sagittal, with Congenital Heart Disease, Mental Deficiency, and Mandibular Ankylosis Craniosynostosis Craniosynostosis 1 Craniosynostosis 2 Craniosynostosis 3 Craniosynostosis 4 Craniosynostosis 5 Craniosynostosis 6 Craniosynostosis 7 Craniosynostosis and Dental Anomalies Craniosynostosis Autosomal Dominant Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism Craniosynostosis-Cataract Syndrome Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome Craniosynostosis Syndrome, Autosomal Recessive Craniosynostosis with Fibular Aplasia Craniotelencephalic Dysplasia Cri-Du-Chat Syndrome Criss-Cross Heart Crouzon Syndrome Crouzon Syndrome with Acanthosis Nigricans Cryptomicrotia-Brachydactyly Syndrome Cryptophthalmos, Unilateral or Bilateral, Isolated Cubitus Valgus with Mental Retardation and Unusual Facies Culler-Jones Syndrome Curly Hair-Acral Keratoderma-Caries Syndrome Currarino Syndrome Curry-Jones Syndrome Cutaneous Mastocytosis, Conductive Hearing Loss and Microtia Cutis Laxa Cutis Laxa, Autosomal Dominant 1 Cutis Laxa, Autosomal Dominant 2 Cutis Laxa, Autosomal Dominant 3 Cutis Laxa, Autosomal Recessive Type 1 Cutis Laxa, Autosomal Recessive, Type Ia Cutis Laxa, Autosomal Recessive, Type Ib Cutis Laxa, Autosomal Recessive, Type Ic Cutis Laxa, Autosomal Recessive, Type Iia Cutis Laxa, Autosomal Recessive, Type Iib Cutis Laxa, Autosomal Recessive, Type Iic Cutis Laxa, Autosomal Recessive, Type Iid Cutis Laxa, Autosomal Recessive, Type Iiia Cutis Laxa, Autosomal Recessive, Type Iiib Cutis Laxa, Neonatal, with Marfanoid Phenotype Cutis Marmorata Telangiectatica Congenita Cyprus Facial Neuromusculoskeletal Syndrome Cystic Adenomatoid Malformation of Lung Cystic Angiomatosis of Bone, Diffuse Cystic Fibrosis, Modifier of, 1 Cystic Lymphangioma Czech Dysplasia Daentl Towsend Siegel Syndrome Dandy-Walker Complex Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy Dandy-Walker Malformation with Postaxial Polydactyly Dandy-Walker Syndrome Deafness, Autosomal Dominant 1 Deafness, Autosomal Dominant 10 Deafness, Autosomal Dominant 11 Deafness, Autosomal Dominant 12 Deafness, Autosomal Dominant 13 Deafness, Autosomal Dominant 15 Deafness, Autosomal Dominant 16 Deafness, Autosomal Dominant 17 Deafness, Autosomal Dominant 18 Deafness, Autosomal Dominant 20 Deafness, Autosomal Dominant 21 Deafness, Autosomal Dominant 22 Deafness, Autosomal Dominant 23 Deafness, Autosomal Dominant 24 Deafness, Autosomal Dominant 25 Deafness, Autosomal Dominant 27 Deafness, Autosomal Dominant 28 Deafness, Autosomal Dominant 2a Deafness, Autosomal Dominant 2b Deafness, Autosomal Dominant 30 Deafness, Autosomal Dominant 31 Deafness, Autosomal Dominant 33 Deafness, Autosomal Dominant 36 Deafness, Autosomal Dominant 3a Deafness, Autosomal Dominant 3b Deafness, Autosomal Dominant 40 Deafness, Autosomal Dominant 41 Deafness, Autosomal Dominant 43 Deafness, Autosomal Dominant 44 Deafness, Autosomal Dominant 47 Deafness, Autosomal Dominant 48 Deafness, Autosomal Dominant 49 Deafness, Autosomal Dominant 4a Deafness, Autosomal Dominant 4b Deafness, Autosomal Dominant 5 Deafness, Autosomal Dominant 50 Deafness, Autosomal Dominant 51 Deafness, Autosomal Dominant 52 Deafness, Autosomal Dominant 53 Deafness, Autosomal Dominant 54 Deafness, Autosomal Dominant 56 Deafness, Autosomal Dominant 58 Deafness, Autosomal Dominant 59 Deafness, Autosomal Dominant 6 Deafness, Autosomal Dominant 64 Deafness, Autosomal Dominant 65 Deafness, Autosomal Dominant 66 Deafness, Autosomal Dominant 67 Deafness, Autosomal Dominant 68 Deafness, Autosomal Dominant 69 Deafness, Autosomal Dominant 7 Deafness, Autosomal Dominant 70 Deafness, Autosomal Dominant 71 Deafness, Autosomal Dominant 72 Deafness, Autosomal Dominant 73 Deafness, Autosomal Dominant 9 Deafness, Autosomal Recessive Deafness, Autosomal Recessive 101 Deafness, Autosomal Recessive 102 Deafness, Autosomal Recessive 103 Deafness, Autosomal Recessive 104 Deafness, Autosomal Recessive 105 Deafness, Autosomal Recessive 106 Deafness, Autosomal Recessive 107 Deafness, Autosomal Recessive 108 Deafness, Autosomal Recessive 12 Deafness, Autosomal Recessive 13 Deafness, Autosomal Recessive 14 Deafness, Autosomal Recessive 15 Deafness, Autosomal Recessive 16 Deafness, Autosomal Recessive 17 Deafness, Autosomal Recessive 18a Deafness, Autosomal Recessive 18b Deafness, Autosomal Recessive 1a Deafness, Autosomal Recessive 1b Deafness, Autosomal Recessive 2 Deafness, Autosomal Recessive 20 Deafness, Autosomal Recessive 21 Deafness, Autosomal Recessive 22 Deafness, Autosomal Recessive 23 Deafness, Autosomal Recessive 24 Deafness, Autosomal Recessive 25 Deafness, Autosomal Recessive 26 Deafness, Autosomal Recessive 27 Deafness, Autosomal Recessive 28 Deafness, Autosomal Recessive 29 Deafness, Autosomal Recessive 3 Deafness, Autosomal Recessive 30 Deafness, Autosomal Recessive 31 Deafness, Autosomal Recessive 32 Deafness, Autosomal Recessive 33 Deafness, Autosomal Recessive 35 Deafness, Autosomal Recessive 37 Deafness, Autosomal Recessive 38 Deafness, Autosomal Recessive 39 Deafness, Autosomal Recessive 40 Deafness, Autosomal Recessive 42 Deafness, Autosomal Recessive 44 Deafness, Autosomal Recessive 45 Deafness, Autosomal Recessive 46 Deafness, Autosomal Recessive 47 Deafness, Autosomal Recessive 48 Deafness, Autosomal Recessive 49 Deafness, Autosomal Recessive 5 Deafness, Autosomal Recessive 51 Deafness, Autosomal Recessive 53 Deafness, Autosomal Recessive 55 Deafness, Autosomal Recessive 59 Deafness, Autosomal Recessive 6 Deafness, Autosomal Recessive 61 Deafness, Autosomal Recessive 62 Deafness, Autosomal Recessive 63 Deafness, Autosomal Recessive 65 Deafness, Autosomal Recessive 66 Deafness, Autosomal Recessive 67 Deafness, Autosomal Recessive 68 Deafness, Autosomal Recessive 7 Deafness, Autosomal Recessive 70 Deafness, Autosomal Recessive 71 Deafness, Autosomal Recessive 74 Deafness, Autosomal Recessive 76 Deafness, Autosomal Recessive 77 Deafness, Autosomal Recessive 79 Deafness, Autosomal Recessive 8 Deafness, Autosomal Recessive 83 Deafness, Autosomal Recessive 84a Deafness, Autosomal Recessive 84b Deafness, Autosomal Recessive 85 Deafness, Autosomal Recessive 86 Deafness, Autosomal Recessive 88 Deafness, Autosomal Recessive 89 Deafness, Autosomal Recessive 9 Deafness, Autosomal Recessive 91 Deafness, Autosomal Recessive 93 Deafness, Autosomal Recessive 96 Deafness, Autosomal Recessive 97 Deafness, Autosomal Recessive 98 Deafness, Conductive Stapedial, with Ear Malformation and Facial Palsy Deafness, Conductive, with Malformed External Ear Deafness, Conductive, with Ptosis and Skeletal Anomalies Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia Deafness, Congenital, with Onychodystrophy, Autosomal Dominant Deafness, Congenital, with Total Albinism Deafness, Congenital, with Vitiligo and Achalasia Deafness-Craniofacial Syndrome Deafness, Dystonia, and Cerebral Hypomyelination Deafness Enamel Hypoplasia Nail Defects Deafness-Genital Anomalies-Metacarpal and Metatarsal Synostosis Syndrome Deafness-Hypogonadism Syndrome Deafness-Infertility Syndrome Deafness Nephritis Anorectal Malformation Deafness, Nerve Type, with Mesenteric Diverticula of Small Bowel and Progressive Sensory Neuropathy Deafness-Oligodontia Syndrome Deafness, Progressive, with Stapes Fixation De Barsy Syndrome Deletion 5q35 Dental Anomalies and Short Stature Dent Disease 1 Dent Disease 2 Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome Denys-Drash Syndrome Dermatoosteolysis, Kirghizian Type Dermatopathia Pigmentosa Reticularis Dermoid Cysts, Familial Frontonasal Dermoodontodysplasia Dermotrichic Syndrome Desanto-Shinawi Syndrome Desbuquois Dysplasia Desbuquois Dysplasia 1 Desbuquois Dysplasia 2 Desmosterolosis Developmental Delay-Deafness Syndrome, Hildebrand Type Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair Dextrocardia Dextrocardia with Situs Inversus Dextro-Looped Transposition of the Great Arteries Diabetes and Deafness, Maternally Inherited Diabetes Mellitus, 6q24-Related Transient Neonatal Diabetes Mellitus, Transient Neonatal, 1 Diabetes Mellitus, Transient Neonatal, 2 Diabetes Mellitus, Transient Neonatal, 3 Diamond-Blackfan Anemia Diamond-Blackfan Anemia 1 Diamond-Blackfan Anemia 10 Diamond-Blackfan Anemia 11 Diamond-Blackfan Anemia 12 Diamond-Blackfan Anemia 13 Diamond-Blackfan Anemia 16 Diamond-Blackfan Anemia 17 Diamond-Blackfan Anemia 2 Diamond-Blackfan Anemia 3 Diamond-Blackfan Anemia 4 Diamond-Blackfan Anemia 5 Diamond-Blackfan Anemia 6 Diamond-Blackfan Anemia 7 Diamond-Blackfan Anemia 8 Diamond-Blackfan Anemia 9 Diaphanospondylodysostosis Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects of Skull Diaphragmatic Hernia 2 Diaphragmatic Hernia 3 Diaphragmatic Hernia, Congenital Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma Diastematomyelia Diastrophic Dysplasia Didelphys Uterus Diencephalic-Mesencephalic Junction Dysplasia Diethylstilbestrol Syndrome Diffuse Lymphatic Malformation Diffuse Neonatal Hemangiomatosis Digeorge Syndrome/velocardiofacial Syndrome Complex 2 Digestive Duplication Digestive Duplication Cyst of the Tongue Digital Anomalies-Intellectual Disability-Short Stature Syndrome Digital Arthropathy-Brachydactyly, Familial Digital Clubbing, Isolated Congenital Digitotalar Dysmorphism Dihydrolipoamide Dehydrogenase Deficiency Diphallia Diprosopus Discrete Fibromuscular Subaortic Stenosis Dislocation of Hip, Congenital, with Hyperextensibility of Fingers and Facial Dysmorphism Disproportionate Short Stature with Ptosis and Valvular Heart Lesions Distal 17p13.3 Microdeletion Syndrome Distal 22q11.2 Microduplication Syndrome Distal 7q11.23 Microduplication Syndrome Distal Arthrogryposis Distal Monosomy 12p Distal Monosomy 12q Distal Monosomy 14q Distal Monosomy 19p13.3 Distal Monosomy 20q Distal Monosomy 4q Distal Monosomy 7p Distal Monosomy 7q36 Distal Monosomy 9p Distal Trisomy 10q Distal Trisomy 11q Distal Trisomy 13q Distal Trisomy 14q Distal Trisomy 15q Distal Trisomy 16q Distal Trisomy 17q Distal Trisomy 18q Distal Trisomy 19q Distal Trisomy 1p36 Distal Trisomy 20q Distal Trisomy 22q Distal Trisomy 2p Distal Trisomy 2q Distal Trisomy 3p Distal Trisomy 4q Distal Trisomy 5q Distal Trisomy 6p Distal Trisomy 6q Distal Trisomy 7p Distal Trisomy 8q Distal Trisomy 9q Distal Xq28 Microduplication Syndrome Diverticulosis of Bowel, Hernia, and Retinal Detachment Dk Phocomelia Syndrome Dobrow Syndrome Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis Donnai-Barrow Syndrome Donohue Syndrome Double-Orifice Mitral Valve Double Outlet Left Ventricle Double Outlet Right Ventricle with Atrioventricular Septal Defect, Pulmonary Stenosis, Heterotaxy Double Outlet Right Ventricle with Non-Committed Subpulmonary Ventricular Septal Defect Double Outlet Right Ventricle with Subaortic or Doubly Committed Ventricular Septal Defect with Pulmonary Stenosis Doughnut Lesions of Skull, Familial Down Syndrome Drug-Related Renal Tubular Dysgenesis Duane-Radial Ray Syndrome Duane Retraction Syndrome Duane Retraction Syndrome 1 Duane Retraction Syndrome 2 Dubowitz Syndrome Duodenal Atresia Duplication of the Pituitary Gland Duplication of Urethra Dural Sinus Malformation Dyggve-Melchior-Clausen Disease Dyrk1a-Related Intellectual Disability Syndrome Due to 21q22.13q22.2 Microdeletion Dyschondrosteosis and Nephritis Dyskeratosis Congenita Dyskeratosis Congenita Autosomal Dominant Dyskeratosis Congenita, Autosomal Dominant 1 Dyskeratosis Congenita, Autosomal Dominant 2 Dyskeratosis Congenita, Autosomal Dominant 3 Dyskeratosis Congenita, Autosomal Dominant 6 Dyskeratosis Congenita Autosomal Recessive Dyskeratosis Congenita, Autosomal Recessive 1 Dyskeratosis Congenita, Autosomal Recessive 2 Dyskeratosis Congenita, Autosomal Recessive 3 Dyskeratosis Congenita, Autosomal Recessive 5 Dyskeratosis Congenita, Autosomal Recessive 6 Dysmorphism Cleft Palate Loose Skin Dysmorphism-Short Stature-Deafness-Disorder of Sex Development Syndrome Dysosteosclerosis Dysphagia Lusoria Dysplasia Epiphysealis Hemimelica Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas Dysplasia of Head of Femur, Meyer Type Dysplastic Cortical Hyperostosis Dyssegmental Dysplasia, Rolland-Desbuquois Type Dyssegmental Dysplasia, Silverman-Handmaker Type Dysspondyloenchondromatosis Dystonia Dystonia 12 Dystonia 16 Dystonia 21 Dystonia 23 Dystonia 24 Dystonia 25 Dystonia 27 Dystonia 9 Dystonia, Juvenile-Onset Earlobes, Thickened, with Conductive Deafness from Incudostapedial Abnormalities Early-Onset Glaucoma Early-Onset Non-Syndromic Cataract Early-Onset Nuclear Cataract Early-Onset Partial Cataract Early-Onset Posterior Subcapsular Cataract Early-Onset Zonular Cataract Ebstein Anomaly Ectasia of the Left Atrial Appendage Ectasia of the Right Atrial Appendage Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive Ectodermal Dysplasia 1, Hypohidrotic, X-Linked Ectodermal Dysplasia 4, Hair/nail Type Ectodermal Dysplasia 5, Hair/nail Type Ectodermal Dysplasia 6, Hair/nail Type Ectodermal Dysplasia 7, Hair/nail Type Ectodermal Dysplasia 8, Hair/tooth/nail Type Ectodermal Dysplasia 9, Hair/nail Type Ectodermal Dysplasia and Neurosensory Deafness Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia Ectodermal Dysplasia/short Stature Syndrome Ectodermal Dysplasia/skin Fragility Syndrome Ectodermal Dysplasia-Syndactyly Syndrome 1 Ectodermal Dysplasia-Syndactyly Syndrome 2 Ectodermal Dysplasia, Trichoodontoonychial Type Ectodermal Dysplasia with Natal Teeth, Turnpenny Type Ectopia Cordis Ectrodactyly-Polydactyly Edinburgh Malformation Syndrome Ehlers-Danlos/osteogenesis Imperfecta Syndrome Ehlers-Danlos Syndrome Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 Ehlers-Danlos Syndrome, Cardiac Valvular Type Ehlers-Danlos Syndrome, Classic-Like Ehlers-Danlos Syndrome, Classic Type, 1 Ehlers-Danlos Syndrome, Classic Type, 2 Ehlers-Danlos Syndrome, Dermatosparaxis Type Ehlers-Danlos Syndrome, Hypermobility Type Ehlers-Danlos Syndrome, Kyphoscoliotic Form Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 Ehlers-Danlos Syndrome, Musculocontractural Type, 1 Ehlers-Danlos Syndrome, Musculocontractural Type, 2 Ehlers-Danlos Syndrome, Periodontal Type, 1 Ehlers-Danlos Syndrome, Periodontal Type, 2 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 Ehlers-Danlos Syndrome Type 2 Ehlers-Danlos Syndrome, Type V Ehlers-Danlos Syndrome, Vascular-Like Type Ehlers-Danlos Syndrome, Vascular Type Ehlers-Danlos Syndrome with Platelet Dysfunction from Fibronectin Abnormality Eiken Syndrome Ellis-Van Creveld Syndrome Emanuel Syndrome Embryonal Carcinoma Embryonal Extrahepatic Bile Duct Rhabdomyosarcoma Embryonal Rhabdomyosarcoma Embryonal Sarcoma Embryonal Testis Carcinoma Embryonal Tumor with Multilayered Rosettes Embryonary Disorganization Syndrome Emphysema, Congenital Lobar Encephalocele Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration Enchondromatosis, Multiple, Ollier Type Encircling Double Aortic Arch Endocrine-Cerebroosteodysplasia Endodermal Sinus Tumor Endosteal Hyperostosis, Autosomal Dominant Epibulbar Lipodermoid-Preauricular Appendage-Polythelia Syndrome Epidermolysis Bullosa Dystrophica Epidermolysis Bullosa Dystrophica, Autosomal Dominant Epidermolysis Bullosa Dystrophica, Autosomal Recessive Epidermolysis Bullosa Dystrophica, Pretibial Epidermolysis Bullosa, Junctional, Herlitz Type Epidermolysis Bullosa Junctionalis with Pyloric Atresia Epidermolysis Bullosa, Junctional, Non-Herlitz Type Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation Epidermolysis Bullosa Pruriginosa Epidermolysis Bullosa Simplex with Muscular Dystrophy Epilepsy, Hearing Loss, and Mental Retardation Syndrome Epilepsy-Telangiectasia Epileptic Encephalopathy, Early Infantile, 1 Epileptic Encephalopathy, Early Infantile, 11 Epileptic Encephalopathy, Early Infantile, 12 Epileptic Encephalopathy, Early Infantile, 13 Epileptic Encephalopathy, Early Infantile, 14 Epileptic Encephalopathy, Early Infantile, 15 Epileptic Encephalopathy, Early Infantile, 16 Epileptic Encephalopathy, Early Infantile, 17 Epileptic Encephalopathy, Early Infantile, 18 Epileptic Encephalopathy, Early Infantile, 19 Epileptic Encephalopathy, Early Infantile, 2 Epileptic Encephalopathy, Early Infantile, 21 Epileptic Encephalopathy, Early Infantile, 23 Epileptic Encephalopathy, Early Infantile, 24 Epileptic Encephalopathy, Early Infantile, 25 Epileptic Encephalopathy, Early Infantile, 26 Epileptic Encephalopathy, Early Infantile, 27 Epileptic Encephalopathy, Early Infantile, 28 Epileptic Encephalopathy, Early Infantile, 29 Epileptic Encephalopathy, Early Infantile, 3 Epileptic Encephalopathy, Early Infantile, 30 Epileptic Encephalopathy, Early Infantile, 31 Epileptic Encephalopathy, Early Infantile, 32 Epileptic Encephalopathy, Early Infantile, 33 Epileptic Encephalopathy, Early Infantile, 34 Epileptic Encephalopathy, Early Infantile, 35 Epileptic Encephalopathy, Early Infantile, 36 Epileptic Encephalopathy, Early Infantile, 37 Epileptic Encephalopathy, Early Infantile, 38 Epileptic Encephalopathy, Early Infantile, 39 Epileptic Encephalopathy, Early Infantile, 4 Epileptic Encephalopathy, Early Infantile, 40 Epileptic Encephalopathy, Early Infantile, 41 Epileptic Encephalopathy, Early Infantile, 42 Epileptic Encephalopathy, Early Infantile, 43 Epileptic Encephalopathy, Early Infantile, 44 Epileptic Encephalopathy, Early Infantile, 45 Epileptic Encephalopathy, Early Infantile, 46 Epileptic Encephalopathy, Early Infantile, 47 Epileptic Encephalopathy, Early Infantile, 48 Epileptic Encephalopathy, Early Infantile, 49 Epileptic Encephalopathy, Early Infantile, 5 Epileptic Encephalopathy, Early Infantile, 50 Epileptic Encephalopathy, Early Infantile, 51 Epileptic Encephalopathy, Early Infantile, 52 Epileptic Encephalopathy, Early Infantile, 53 Epileptic Encephalopathy, Early Infantile, 54 Epileptic Encephalopathy, Early Infantile, 55 Epileptic Encephalopathy, Early Infantile, 56 Epileptic Encephalopathy, Early Infantile, 57 Epileptic Encephalopathy, Early Infantile, 58 Epileptic Encephalopathy, Early Infantile, 6 Epileptic Encephalopathy, Early Infantile, 7 Epileptic Encephalopathy, Early Infantile, 8 Epileptic Encephalopathy, Early Infantile, 9 Epimetaphyseal Skeletal Dysplasia Epiphyseal Chondrodysplasia, Miura Type Epiphyseal Dysplasia Hearing Loss Dysmorphism Epiphyseal Dysplasia, Microcephaly, and Nystagmus Epiphyseal Dysplasia, Multiple, 1 Epiphyseal Dysplasia, Multiple, 2 Epiphyseal Dysplasia, Multiple, 3 Epiphyseal Dysplasia, Multiple, 4 Epiphyseal Dysplasia, Multiple, 5 Epiphyseal Dysplasia, Multiple, 6 Epiphyseal Dysplasia, Multiple, 7 Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus Epiphyseal Dysplasia, Multiple, with Miniepiphyses Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia Epispadias Epithelioid Hemangioendothelioma Epstein-Barr Virus Chronic Infection by Ermine Phenotype Esophageal Duplication Cyst Essential Iris Atrophy Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis Exostoses, Multiple, Type I Exostoses, Multiple, Type Ii Exostoses, Multiple, Type Iii Exostoses with Anetodermia and Brachydactyly, Type E Exstrophy of Bladder External Auditory Canal Aplasia/hypoplasia External Auditory Canal, Bilateral Atresia of, with Congenital Vertical Talus Extracranial Carotid Artery Aneurysm Extralobar Congenital Pulmonary Sequestration Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly Eyebrows, Duplication of, with Stretchable Skin and Syndactyly Fabry Disease Facial Clefting, Oblique, 1 Facial Dermoid Cyst Facial Dysmorphism-Anorexia-Cachexia-Eye and Skin Anomalies Syndrome Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs Facial Dysmorphism with Multiple Malformations Facial Paresis, Hereditary Congenital, 1 Facial Paresis, Hereditary Congenital, 2 Facial Paresis, Hereditary Congenital, 3 Faciocardiomelic Dysplasia, Lethal Faciocardiorenal Syndrome Faciodigitogenital Syndrome, Autosomal Recessive Fallopian Tube Gestational Choriocarcinoma Fallot Complex with Severe Mental and Growth Retardation Familial Adenomatous Polyposis Familial Adenomatous Polyposis 1 Familial Adenomatous Polyposis 2 Familial Adenomatous Polyposis 3 Familial Adenomatous Polyposis 4 Familial Adenomatous Polyposis Due to 5q22.2 Microdeletion Familial Bicuspid Aortic Valve Familial Calcium Pyrophosphate Deposition Familial Clubfoot with or Without Associated Lower Limb Anomalies Familial Deafness Familial Expansile Osteolysis Familial Hypocalciuric Hypercalcemia Familial Idiopathic Dilatation of the Right Atrium Familial Isolated Clinodactyly of Fingers Familial Monosomy 7 Syndrome Familial Omphalocele Syndrome with Facial Dysmorphism Familial Partial Lipodystrophy Familial Partial Lipodystrophy Due to Akt2 Mutations Familial Patent Arterial Duct Familial Porencephaly Familial Short Qt Syndrome Familial Syringomyelia Familial Tumoral Calcinosis Familial Vesicoureteral Reflux Familial Wilms Tumor 2 Fanconi Anemia, Complementation Group a Fanconi Anemia, Complementation Group I Fanconi Anemia, Complementation Group J Fanconi Anemia, Complementation Group L Fanconi Anemia, Complementation Group N Fanconi Anemia, Complementation Group O Fanconi Anemia, Complementation Group P Fanconi Anemia, Complementation Group Q Fanconi Anemia, Complementation Group R Fanconi Anemia, Complementation Group T Fanconi Anemia, Complementation Group U Fanconi Anemia, Complementation Group V Fanconi Anemia, Complementation Group W Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome Feingold Syndrome 1 Feingold Syndrome 2 Femoral Agenesis/hypoplasia Femoral Agenesis/hypoplasia, Bilateral Femoral Agenesis/hypoplasia, Unilateral Femoral-Facial Syndrome Femur-Fibula-Ulna Syndrome Femur, Unilateral Bifid, with Monodactylous Ectrodactyly Fetal Adenoma Fetal Akinesia Deformation Sequence Fetal Akinesia Syndrome, X-Linked Fetal Alcohol Spectrum Disorder Fetal Alcohol Syndrome Fetal Aminopterin Syndrome Fetal and Neonatal Alloimmune Thrombocytopenia Fetal Brain Disruption Sequence Fetal Carbamazepine Syndrome Fetal Cytomegalovirus Syndrome Fetal Edema Fetal Enterovirus Syndrome Fetal Erythroblastosis Fetal Hemoglobin Quantitative Trait Locus 1 Fetal Hemoglobin Quantitative Trait Locus 2 Fetal Hemoglobin Quantitative Trait Locus 3 Fetal Hemoglobin Quantitative Trait Locus 4 Fetal Hemoglobin Quantitative Trait Locus 5 Fetal Hemoglobin Quantitative Trait Locus 6 Fetal Hydantoin Syndrome Fetal Indomethacin Syndrome Fetal Iodine Deficiency Disorder Fetal Left Ventricular Aneurysm Fetal Lung Interstitial Tumor Fetal Macrosomia Fetal Methylmercury Syndrome Fetal Minoxidil Syndrome Fetal Nicotine Spectrum Disorder Fetal Parainfluenza Virus Type 3 Syndrome Fetal Parvovirus Syndrome Fetal Phenothiazine Syndrome Fetal Retinoid Syndrome Fetal Thalidomide Syndrome Fetal Trimethadione Syndrome Fibrochondrogenesis Fibrochondrogenesis 1 Fibrochondrogenesis 2 Fibrodysplasia Ossificans Progressiva Fibromatosis, Gingival, with Distinctive Facies Fibromatosis, Gingival, with Progressive Deafness Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome Fibular Dimelia-Diplopodia Syndrome Fibular Hemimelia Fibular Hemimelia, Bilateral Fibular Hemimelia, Unilateral Fibular Hypoplasia and Complex Brachydactyly Fibuloulnar Aplasia or Hypoplasia with Renal Abnormalities Filippi Syndrome Finger Hyperphalangy-Toe Anomalies-Severe Pectus Excavatum Syndrome Finger Locking, Recurrent, with Intrauterine Growth Retardation and Proportionate Short Stature First Branchial Cleft Anomaly Floating-Harbor Syndrome Focal Cortical Dysplasia, Type Ii Focal Dermal Hypoplasia Focal Facial Dermal Dysplasia Focal Facial Dermal Dysplasia 1, Brauer Type Focal Facial Dermal Dysplasia 2, Brauer-Setleis Type Focal Facial Dermal Dysplasia 3, Setleis Type Focal Facial Dermal Dysplasia 4 Foix-Alajouanine Syndrome Fountain Syndrome Fourth Branchial Cleft Anomaly Fragile X Syndrome Fragile X Syndrome Type 1 Fragile X Syndrome Type 2 Fragile X Syndrome Type 3 Frank-Ter Haar Syndrome Frasier Syndrome Frontal Encephalocele Frontofacionasal Dysplasia Frontometaphyseal Dysplasia Frontometaphyseal Dysplasia 1 Frontometaphyseal Dysplasia 2 Frontonasal Arteriovenous Malformation Frontonasal Dysplasia 1 Frontonasal Dysplasia 2 Frontonasal Dysplasia 3 Frontonasal Dysplasia with Alar Clefts Fryns Macrocephaly Fryns Microphthalmia Syndrome Fryns Syndrome Galloway-Mowat Syndrome Galloway-Mowat Syndrome 1 Galloway-Mowat Syndrome 3 Galloway-Mowat Syndrome 4 Galloway-Mowat Syndrome 5 Gapo Syndrome Gastrointestinal Defects and Immunodeficiency Syndrome Gastroschisis Gaucher Disease, Perinatal Lethal Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 1 Geleophysic Dysplasia Geleophysic Dysplasia 1 Geleophysic Dysplasia 2 Geleophysic Dysplasia 3 Gemignani Syndrome Generalized Resistance to Thyroid Hormone Genitopalatocardiac Syndrome Genitopatellar Syndrome Genochondromatosis Genuine Diffuse Phlebectasia German Syndrome Germ Cell and Embryonal Cancer Geroderma Osteodysplasticum Gestational Choriocarcinoma Gestational Ovarian Choriocarcinoma Gestational Uterine Corpus Choriocarcinoma Ghosal Hematodiaphyseal Dysplasia Gillespie Syndrome Glass Syndrome Glaucoma 3, Primary Congenital, a Glaucoma 3, Primary Congenital, C Glaucoma 3, Primary Congenital, D Glaucoma 3, Primary Congenital, E Glaucoma 3, Primary Infantile, B Glaucoma, Hereditary Glaucoma, Hereditary Adult Type 1a Glaucoma, Hereditary Juvenile Type 1b Glaucoma, Primary Infantile Type 3a Glaucoma Type 1c Glioependymal/ependymal Cyst Global Developmental Delay-Lung Cysts-Overgrowth-Wilms Tumor Syndrome Glomuvenous Malformations Glossopalatine Ankylosis Glucocorticoid Resistance, Generalized Gms Syndrome Gnathodiaphyseal Dysplasia Goiter, Multinodular, Cystic Renal Disease, and Digital Anomalies Goldberg-Shprintzen Syndrome Gomez-Lopez-Hernandez Syndrome Gonadal Dysgenesis Gonadal Dysgenesis, Xy Type, with Associated Anomalies Gorlin-Chaudhry-Moss Syndrome Gracile Bone Dysplasia Graham Boyle Troxell Syndrome Grange Syndrome Grant Syndrome Greenberg Dysplasia Greig Cephalopolysyndactyly Syndrome Growth Retardation, Deafness, Femoral Epiphyseal Dysplasia, and Lacrimal Duct Obstruction Growth Retardation, Developmental Delay, and Facial Dysmorphism Guizar Vasquez Sanchez Manzano Syndrome Gurrieri Syndrome Hadziselimovic Syndrome Haim-Munk Syndrome Hairy Elbows Halal Setton Wang Syndrome Hallermann-Streiff-Like Syndrome Hallermann-Streiff Syndrome Hall-Riggs Mental Retardation Syndrome Hallux Varus and Preaxial Polysyndactyly Hamamy Syndrome Hand and Foot Deformity with Flat Facies Hand-Foot-Genital Syndrome Handigodu Joint Disease Hardikar Syndrome Harrod Syndrome Hartsfield Syndrome Heart Defect, Tongue Hamartoma and Polysyndactyly Heart-Hand Syndrome, Slovenian Type Heart-Hand Syndrome, Spanish Type Helsmoortel-Van Der Aa Syndrome Hemangiomas, Cavernous, of Face and Supraumbilical Midline Raphe Hemifacial Hyperplasia Hemifacial Hyperplasia with Strabismus Hemifacial Microsomia Hemifacial Microsomia with Radial Defects Hemihyperplasia, Isolated Hemihyperplasia-Multiple Lipomatosis Syndrome Hemimegalencephaly Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts Hennekam Syndrome Hereditary Congenital Facial Paresis Hereditary Dystonia Hereditary Hemorrhagic Telangiectasia Hereditary Hypophosphatemic Rickets Hereditary Multiple Exostoses Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome Hereditary Sensory Neuropathy Hereditary Wilms' Tumor Hernández-Aguirre Negrete Syndrome Hernia, Anterior Diaphragmatic Herpetic Embryopathy Herrmann Opitz Craniosynostosis Hersh Podruch Weisskopk Syndrome Heterotaxy, Visceral, 2, Autosomal Heterotaxy, Visceral, 3, Autosomal Heterotaxy, Visceral, 4, Autosomal Heterotaxy, Visceral, 5, Autosomal Heterotaxy, Visceral, 6, Autosomal Heterotaxy, Visceral, 7, Autosomal Heterotaxy, Visceral, 8, Autosomal High Anorectal Malformation High Bone Mass Osteogenesis Imperfecta Hirschsprung Disease Ganglioneuroblastoma Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial Features Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness Hirschsprung Disease with Type D Brachydactyly Hirsutism, Skeletal Dysplasia, and Mental Retardation Holoprosencephaly Holoprosencephaly 1 Holoprosencephaly 11 Holoprosencephaly 2 Holoprosencephaly 3 Holoprosencephaly 4 Holoprosencephaly 5 Holoprosencephaly 6 Holoprosencephaly 7 Holoprosencephaly 8 Holoprosencephaly 9 Holoprosencephaly Caudal Dysgenesis Holoprosencephaly, Semilobar, with Craniosynostosis Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence Holzgreve Syndrome Homocystinuria Due to Cystathionine Beta-Synthase Deficiency Humeral Agenesis/hypoplasia Humeral Agenesis/hypoplasia, Bilateral Humeral Agenesis/hypoplasia, Unilateral Humero-Radial Synostosis, Bilateral Humero-Radial Synostosis, Unilateral Humeroradioulnar Synostosis Humero-Radio-Ulnar Synostosis, Bilateral Humero-Radio-Ulnar Synostosis, Unilateral Humero-Ulnar Synostosis Humero-Ulnar Synostosis, Bilateral Humero-Ulnar Synostosis, Unilateral Hunter-Mcalpine Craniosynostosis Syndrome Hurler-Scheie Syndrome Hurler Syndrome Hutchinson-Gilford Progeria Syndrome Hyaline Fibromatosis Syndrome Hydranencephaly Hydrocephalus Hydrocephalus, Autosomal Dominant Hydrocephalus Autosomal Recessive Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius Hydrocephalus, Nonsyndromic, Autosomal Recessive 1 Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 Hydrocephalus Obesity Hypogonadism Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia Hydrocephalus, Tall Stature, Joint Laxity, and Kyphoscoliosis Hydrocephalus with Associated Malformations Hydrocephalus with Stenosis of the Aqueduct of Sylvius Hydrolethalus Syndrome 1 Hydrolethalus Syndrome 2 Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation Hydrops Fetalis Hydrops Fetalis Anemia Immune Disorder Absent Thumb Hydrops Fetalis, Nonimmune Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect Hydrops Fetalis, Nonimmune, with Gracile Bones and Dysmorphic Features Hyperostosis Cranialis Interna Hyperostosis Frontalis Interna Hyperparathyroidism, Neonatal Severe Hyperphalangy Hyperphalangy, Bilateral Hyperphalangy, Unilateral Hyperphosphatasia-Intellectual Disability Syndrome Hypertelorism, Microtia, Facial Clefting Syndrome Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness Hypertelorism, Teebi Type Hypertension and Brachydactyly Syndrome Hypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia Hypertrichosis Lanuginosa Congenita Hypertrichosis Universalis Congenita, Ambras Type Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 Hypocalcemic Vitamin D-Dependent Rickets Hypocalciuric Hypercalcemia, Familial, Type I Hypocalciuric Hypercalcemia, Familial, Type Ii Hypocalciuric Hypercalcemia, Familial, Type Iii Hypochondroplasia Hypoglossia-Hypodactylia Hypoglossia with Situs Inversus Hypogonadism-Cataract Syndrome Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies Hypogonadotropic Hypogonadism 23 Without Anosmia Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome Hypohidrotic Ectodermal Dysplasia Autosomal Recessive Hypohidrotic Ectodermal Dysplasia with Immunodeficiency Hypoinsulinemic Hypoglycemia with Hemihypertrophy Hypomandibular Faciocranial Dysostosis Hypomelanosis of Ito Hypomelia with Mullerian Duct Anomalies Hypomyelinating Leukodystrophy Hypomyelination Neuropathy-Arthrogryposis Syndrome Hypoparathyroidism-Retardation-Dysmorphism Syndrome Hypoparathyroidism, Sensorineural Deafness, and Renal Disease Hypophosphatasia Hypophosphatasia, Adult Hypophosphatasia, Childhood Hypophosphatasia, Infantile Hypophosphatemic Rickets, Autosomal Dominant Hypophosphatemic Rickets, Autosomal Recessive, 1 Hypophosphatemic Rickets, Autosomal Recessive, 2 Hypophosphatemic Rickets with Hypercalciuria, Hereditary Hypophosphatemic Rickets, X-Linked Dominant Hypophosphatemic Rickets, X-Linked Recessive Hypoplasia of the Mitral Valve Annulus Hypoplastic Left Heart Syndrome Hypoplastic Left Heart Syndrome 1 Hypoplastic Left Heart Syndrome 2 Hypospadias Hypospadias 3, Autosomal Hypospadias-Mental Retardation Syndrome Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate Hypotonia-Cystinuria Syndrome Hypotonia, Infantile, with Psychomotor Retardation Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome Hypotrichosis, Congenital, with Juvenile Macular Dystrophy Hypotrichosis-Deafness Syndrome Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome Ichthyosis Ichthyosis, Acquired Ichthyosis, Congenital, Autosomal Recessive 1 Ichthyosis, Congenital, Autosomal Recessive 10 Ichthyosis, Congenital, Autosomal Recessive 11 Ichthyosis, Congenital, Autosomal Recessive 12 Ichthyosis, Congenital, Autosomal Recessive 13 Ichthyosis, Congenital, Autosomal Recessive 14 Ichthyosis, Congenital, Autosomal Recessive 2 Ichthyosis, Congenital, Autosomal Recessive 3 Ichthyosis, Congenital, Autosomal Recessive 4a Ichthyosis, Congenital, Autosomal Recessive 4b Ichthyosis, Congenital, Autosomal Recessive 5 Ichthyosis, Congenital, Autosomal Recessive 6 Ichthyosis, Congenital, Autosomal Recessive 7 Ichthyosis, Congenital, Autosomal Recessive 8 Ichthyosis, Congenital, Autosomal Recessive 9 Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental Retardation Idiopathic Dilatation of the Pulmonary Artery Idiopathic Syringomyelia Ifap Syndrome with or Without Bresheck Syndrome Illum Syndrome Immune Hydrops Fetalis Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis Imperforate Oropharynx-Costo Vertebral Anomalies Syndrome Incontinentia Pigmenti Infant Gynecomastia Infantile Bartter Syndrome with Sensorineural Deafness Infantile Epileptic Encephalopathy Infantile Osteopetrosis with Neuroaxonal Dysplasia Inferior Vena Cava Interruption Infundibulopelvic Dysgenesis Iniencephaly Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin Intellectual Disability - Athetosis - Microphthalmia Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome Intellectual Disability-Short Stature-Hypertelorism Syndrome Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation Interatrial Communication Intermediate Anorectal Malformation Internal Carotid Agenesis Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital Intestinal Disease Intestinal Obstruction Intestinal Pseudo-Obstruction Intestinal Pseudoobstruction with Patent Ductus Arteriosus and Natal Teeth Intractable Diarrhea-Choanal Atresia-Eye Anomalies Syndrome Intralobar Congenital Pulmonary Sequestration Intramural Coronary Arterial Course Intratubular Embryonal Carcinoma Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies Inverse Klippel-Trénaunay Syndrome Iridocorneal Endothelial Syndrome Ischio-Vertebral Syndrome Isochromosome Yp Isochromosomy Yq Isodicentric Chromosome 15 Syndrome Isolated Amyelia Isolated Aniridia Isolated Ankyloblepharon Filiforme Adnatum Isolated Anorectal Malformation Isolated Arhinencephaly Isolated Arrhinia Isolated Bilateral Hemispheric Cerebellar Hypoplasia Isolated Brachycephaly Isolated Cerebellar Hypoplasia/agenesis Isolated Cerebellar Vermis Agenesis Isolated Cerebellar Vermis Hypoplasia Isolated Cleft Lip Isolated Congenital Auditory Ossicle Malformation Isolated Congenitally Uncorrected Transposition of the Great Arteries Isolated Congenital Megalocornea Isolated Congenital Microcephaly Isolated Congenital Radial Head Dislocation Isolated Congenital Syngnathia Isolated Dandy-Walker Malformation with Hydrocephalus Isolated Dandy-Walker Malformation Without Hydrocephalus Isolated Encephalocele Isolated Focal Cortical Dysplasia Type I Isolated Focal Cortical Dysplasia Type Ia Isolated Focal Cortical Dysplasia Type Ib Isolated Focal Cortical Dysplasia Type Ic Isolated Klippel-Feil Syndrome Isolated Lissencephaly Type 1 Without Known Genetic Defects Isolated Megalencephaly Isolated Micropenis Isolated Oxycephaly Isolated Partial Cerebellar Vermis Agenesis Isolated Partial Vaginal Agenesis Isolated Plagiocephaly Isolated Scaphocephaly Isolated Splenogonadal Fusion Isolated Total Cerebellar Vermis Agenesis Isolated Tracheoesophageal Fistula Isolated Trigonocephaly Isolated Unilateral Hemispheric Cerebellar Hypoplasia Isotretinoin Embryopathy-Like Syndrome Isotretinoin Syndrome Ivic Syndrome Jackson-Weiss Syndrome Jacobsen Syndrome Jalili Syndrome Jawad Syndrome Jejunal Atresia Jervell and Lange-Nielsen Syndrome 1 Jervell and Lange-Nielsen Syndrome 2 Johanson-Blizzard Syndrome Johnson Neuroectodermal Syndrome Joint Laxity, Familial Jorgenson Lenz Syndrome Joubert Syndrome 1 Joubert Syndrome 10 Joubert Syndrome 13 Joubert Syndrome 14 Joubert Syndrome 15 Joubert Syndrome 16 Joubert Syndrome 17 Joubert Syndrome 18 Joubert Syndrome 2 Joubert Syndrome 20 Joubert Syndrome 21 Joubert Syndrome 22 Joubert Syndrome 23 Joubert Syndrome 24 Joubert Syndrome 25 Joubert Syndrome 26 Joubert Syndrome 27 Joubert Syndrome 28 Joubert Syndrome 3 Joubert Syndrome 30 Joubert Syndrome 31 Joubert Syndrome 32 Joubert Syndrome 33 Joubert Syndrome 4 Joubert Syndrome 5 Joubert Syndrome 6 Joubert Syndrome 7 Joubert Syndrome 8 Joubert Syndrome 9 Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy Joubert Syndrome with Ocular Anomalies Joubert Syndrome with Oculorenal Anomalies Joubert Syndrome with Renal Anomalies Junctional Epidermolysis Bullosa Juvenile Glaucoma Juvenile Primary Osteoporosis Juvenile Sialidosis Type 2 Juxtaposition of the Atrial Appendages Kabuki Syndrome 1 Kabuki Syndrome 2 Kagami-Ogata Syndrome Kallmann Syndrome-Heart Disease Syndrome Kaposiform Hemangioendothelioma Kaposiform Lymphangiomatosis Kaposi Sarcoma Kapur-Toriello Syndrome Kbg Syndrome Kearns-Sayre Syndrome Kenny-Caffey Syndrome Kenny-Caffey Syndrome, Type 1 Kenny-Caffey Syndrome, Type 2 Keratoderma, Palmoplantar, with Deafness Kernicterus Kernicterus Due to Isoimmunization Keutel Syndrome Kid Syndrome Kleeblattschaedel Kleefstra Syndrome Kleefstra Syndrome 1 Kleefstra Syndrome 2 Kleefstra Syndrome Due to a Point Mutation Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism Klippel-Trenaunay-Weber Syndrome Klumpke Paralysis Kniest Dysplasia Kniest-Like Dysplasia, Lethal Knobloch Syndrome Knobloch Syndrome 1 Knuckle Pads, Leukonychia, and Sensorineural Deafness Kohlschutter-Tonz Syndrome Kommerell Diverticulum Koolen-De Vries Syndrome Koolen-De Vries Syndrome Due to a Point Mutation Kosaki Overgrowth Syndrome Kozlowski-Krajewska Syndrome Krauss Herman Holmes Syndrome Kyphomelic Dysplasia Kyphoscoliotic Ehlers-Danlos Syndrome Lacrimal Duct Defect Lacrimoauriculodentodigital Syndrome Lambert Syndrome Lamb-Shaffer Syndrome Langer Mesomelic Dysplasia Larsen-Like Syndrome Larsen-Like Syndrome, Lethal Type Larsen Syndrome Laryngeal Abductor Paralysis Laryngeal Web, Familial Laryngocele Laryngomalacia Laryngoonychocutaneous Syndrome Laryngotracheal Angioma Laryngotracheoesophageal Cleft Type 0 Laryngotracheoesophageal Cleft Type 1 Laryngotracheoesophageal Cleft Type 2 Laryngotracheoesophageal Cleft Type 4 Larynx, Congenital Partial Atresia of Late-Onset Junctional Epidermolysis Bullosa Lateral Meningocele Syndrome Laubry-Pezzi Syndrome Laurence-Moon Syndrome Laurin-Sandrow Syndrome Left Superior Vena Cava Persisting to Left-Sided Atrium Left Ventricular Noncompaction Left Ventricular Noncompaction 1 Left Ventricular Noncompaction 10 Left Ventricular Noncompaction 2 Left Ventricular Noncompaction 7 Left Ventricular Noncompaction 8 Leg, Absence Deformity of, with Congenital Cataract Legius Syndrome Lelis Syndrome Lenz-Majewski Hyperostotic Dwarfism Leptomyelolipoma Leri-Weill Dyschondrosteosis Lethal Arthrogryposis with Anterior Horn Cell Disease Lethal Congenital Contracture Syndrome Lethal Congenital Contracture Syndrome 1 Lethal Congenital Contracture Syndrome 10 Lethal Congenital Contracture Syndrome 11 Lethal Congenital Contracture Syndrome 2 Lethal Congenital Contracture Syndrome 3 Lethal Congenital Contracture Syndrome 4 Lethal Congenital Contracture Syndrome 5 Lethal Congenital Contracture Syndrome 6 Lethal Congenital Contracture Syndrome 7 Lethal Congenital Contracture Syndrome 8 Lethal Congenital Contracture Syndrome 9 Lethal Hydranencephaly-Diaphragmatic Hernia Syndrome Leukocyte Adhesion Deficiency, Type Iii Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant Leukodystrophy, Hypomyelinating, 10 Leukodystrophy, Hypomyelinating, 11 Leukodystrophy, Hypomyelinating, 12 Leukodystrophy, Hypomyelinating, 13 Leukodystrophy, Hypomyelinating, 2 Leukodystrophy, Hypomyelinating, 3 Leukodystrophy, Hypomyelinating, 4 Leukodystrophy, Hypomyelinating, 5 Leukodystrophy, Hypomyelinating, 6 Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism Leukodystrophy, Hypomyelinating, 9 Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis Levocardia Leydig Cell Hypoplasia Leydig Cell Hypoplasia, Type I Lichtenstein-Knorr Syndrome Liebenberg Syndrome Limb-Body Wall Complex Limb Defects, Distal Transverse, with Mental Retardation and Spasticity Limb-Mammary Syndrome Linear Skin Defects with Multiple Congenital Anomalies 1 Linear Skin Defects with Multiple Congenital Anomalies 2 Linear Skin Defects with Multiple Congenital Anomalies 3 Lip, Median Nodule of Upper Lipodystrophy, Familial Partial, Type 1 Lipodystrophy, Familial Partial, Type 2 Lipodystrophy, Familial Partial, Type 3 Lipodystrophy, Familial Partial, Type 4 Lipodystrophy, Familial Partial, Type 5 Lipodystrophy, Familial Partial, Type 6 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones Lipodystrophy, Partial, Acquired Lipoid Congenital Adrenal Hyperplasia Lipoid Proteinosis of Urbach and Wiethe Lipomyelomeningocele Lissencephaly Lissencephaly 1 Lissencephaly 2 Lissencephaly 3 Lissencephaly 4 Lissencephaly 5 Lissencephaly 7 with Cerebellar Hypoplasia Lissencephaly 8 Lissencephaly Type 3-Familial Fetal Akinesia Sequence Syndrome Lissencephaly Type Iii and Bone Dysplasia Lissencephaly with Cerebellar Hypoplasia Lissencephaly with Cerebellar Hypoplasia Type a Lissencephaly with Cerebellar Hypoplasia Type B Lissencephaly with Cerebellar Hypoplasia Type C Lissencephaly with Cerebellar Hypoplasia Type D Lissencephaly with Cerebellar Hypoplasia Type E Lissencephaly with Cerebellar Hypoplasia Type F Lissencephaly, X-Linked, 1 Lissencephaly, X-Linked, 2 Lobar Holoprosencephaly Loeys-Dietz Syndrome 2 Longitudinal Vaginal Septum Long-Thumb Brachydactyly Syndrome Low Anorectal Malformation Lowe Oculocerebrorenal Syndrome Lower Limb Deficiency-Hypospadias Syndrome Lower Limb Hypertrophy Lower Lip Fistula Low Implantation of Placenta Lowry-Maclean Syndrome Lrp5-Related Primary Osteoporosis Lumbosacral Spina Bifida Aperta Lumbosacral Spina Bifida Cystica Lung Agenesis Lung Agenesis, Congenital Heart Defects, and Thumb Anomalies Syndrome Lymphangiectasia, Pulmonary, Congenital Lymphedema and Cerebral Arteriovenous Anomaly Lymphedema, Cardiac Septal Defects, and Characteristic Facies Lymphedema-Hypoparathyroidism Syndrome Lymphedema, Primary, with Myelodysplasia Macdermot-Winter Syndrome Macrocephaly/autism Syndrome Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation Macrocephaly, Macrosomia, and Facial Dysmorphism Syndrome Macrocephaly-Short Stature-Paraplegia Syndrome Macrodactyly of Fingers Macrodactyly of Fingers, Bilateral Macrodactyly of Fingers, Unilateral Macrodactyly of Toes Macrodactyly of Toes, Bilateral Macrodactyly of Toes, Unilateral Macroglossia Macrosomia with Microphthalmia, Lethal Macrostomia, Isolated Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome Macs Syndrome Madelung Deformity, Bilateral Madelung Deformity, Unilateral Majeed Syndrome Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type Malignant Epithelioid Hemangioendothelioma Malignant Hyperthermia Malignant Hyperthermia 1 Malignant Hyperthermia 2 Malignant Hyperthermia 3 Malignant Hyperthermia 4 Malignant Hyperthermia 5 Malignant Hyperthermia 6 Malposition of the Coronary Ostium Mammary-Digital-Nail Syndrome Mandibular Arteriovenous Malformation Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome Mandibuloacral Dysplasia with Type a Lipodystrophy Mandibuloacral Dysplasia with Type B Lipodystrophy Mandibulofacial Dysostosis, Guion-Almeida Type Mandibulofacial Dysostosis with Alopecia Mandibulofacial Dysostosis with Macroblepharon and Macrostomia Manitoba Oculotrichoanal Syndrome Marden Walker Like Syndrome Marden-Walker Syndrome Marfanoid Habitus-Inguinal Hernia-Advanced Bone Age Syndrome Marfanoid Habitus with Microcephaly and Glomerulonephritis Marfanoid Mental Retardation Syndrome, Autosomal Marfan Syndrome Marinesco-Sjogren-Like Syndrome Marinesco-Sjogren Syndrome Marshall-Smith Syndrome Marshall Syndrome Martsolf Syndrome Masa Syndrome Maternal Hyperphenylalaninemia Maternal Hyperthermia Induced Birth Defects Maternal Uniparental Disomy of Chromosome 1 Maternal Uniparental Disomy of Chromosome 13 Maternal Uniparental Disomy of Chromosome 16 Maternal Uniparental Disomy of Chromosome 2 Maternal Uniparental Disomy of Chromosome 21 Maternal Uniparental Disomy of Chromosome 22 Maternal Uniparental Disomy of Chromosome 4 Maternal Uniparental Disomy of Chromosome 6 Maternal Uniparental Disomy of Chromosome 9 Maternal Uniparental Disomy of Chromosome X Maxillary Arteriovenous Malformation Maxillonasal Dysplasia, Binder Type Mayer-Rokitansky-Kuster-Hauser Syndrome Mazabraud Syndrome Mbd5 Haploinsufficiency Mccune-Albright Syndrome Mcdonough Syndrome Mckusick-Kaufman Syndrome Meacham Syndrome Meckel Syndrome 12 Meckel Syndrome 13 Meckel Syndrome, Type 1 Meckel Syndrome, Type 10 Meckel Syndrome, Type 11 Meckel Syndrome, Type 2 Meckel Syndrome, Type 3 Meckel Syndrome, Type 4 Meckel Syndrome, Type 5 Meckel Syndrome, Type 6 Meckel Syndrome, Type 7 Meckel Syndrome, Type 8 Meckel Syndrome, Type 9 Meconium Aspiration Syndrome Meconium Ileus Medeira-Dennis-Donnai Syndrome Median Cleft Lip/mandibule Median Cleft of the Upper Lip and Maxilla Medullary Sponge Kidney Megacystis-Megaureter Syndrome Megalencephaly Megalencephaly, Autosomal Dominant Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 Megalocornea-Mental Retardation Syndrome Mehmo Syndrome Meier-Gorlin Syndrome 1 Meier-Gorlin Syndrome 2 Meier-Gorlin Syndrome 3 Meier-Gorlin Syndrome 4 Meier-Gorlin Syndrome 5 Meier-Gorlin Syndrome 6 Meier-Gorlin Syndrome 7 Meier-Gorlin Syndrome 8 Melhem Fahl Syndrome Melnick-Needles Syndrome Melorheostosis, Isolated Melorheostosis with Osteopoikilosis Membranous Cranial Ossification, Delayed Mend Syndrome Meningocele Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia Mental Retardation, Autosomal Dominant 10 Mental Retardation, Autosomal Dominant 11 Mental Retardation, Autosomal Dominant 13 Mental Retardation, Autosomal Dominant 18 Mental Retardation, Autosomal Dominant 19 Mental Retardation, Autosomal Dominant 20 Mental Retardation, Autosomal Dominant 21 Mental Retardation, Autosomal Dominant 22 Mental Retardation, Autosomal Dominant 23 Mental Retardation, Autosomal Dominant 24 Mental Retardation, Autosomal Dominant 26 Mental Retardation, Autosomal Dominant 27 Mental Retardation, Autosomal Dominant 29 Mental Retardation, Autosomal Dominant 30 Mental Retardation, Autosomal Dominant 31 Mental Retardation, Autosomal Dominant 32 Mental Retardation, Autosomal Dominant 33 Mental Retardation, Autosomal Dominant 34 Mental Retardation, Autosomal Dominant 35 Mental Retardation, Autosomal Dominant 36 Mental Retardation, Autosomal Dominant 38 Mental Retardation, Autosomal Dominant 39 Mental Retardation, Autosomal Dominant 40 Mental Retardation, Autosomal Dominant 41 Mental Retardation, Autosomal Dominant 42 Mental Retardation, Autosomal Dominant 43 Mental Retardation, Autosomal Dominant 44 Mental Retardation, Autosomal Dominant 45 Mental Retardation, Autosomal Dominant 46 Mental Retardation, Autosomal Dominant 47 Mental Retardation, Autosomal Dominant 48 Mental Retardation, Autosomal Dominant 49 Mental Retardation, Autosomal Dominant 50 Mental Retardation, Autosomal Dominant 51 Mental Retardation, Autosomal Dominant 52 Mental Retardation, Autosomal Dominant 53 Mental Retardation, Autosomal Dominant 54 Mental Retardation, Autosomal Dominant 56 Mental Retardation, Autosomal Dominant 7 Mental Retardation, Autosomal Recessive 14 Mental Retardation, Autosomal Recessive 15 Mental Retardation, Autosomal Recessive 16 Mental Retardation, Autosomal Recessive 18 Mental Retardation, Autosomal Recessive 19 Mental Retardation, Autosomal Recessive 2 Mental Retardation, Autosomal Recessive 23 Mental Retardation, Autosomal Recessive 24 Mental Retardation, Autosomal Recessive 25 Mental Retardation, Autosomal Recessive 27 Mental Retardation, Autosomal Recessive 28 Mental Retardation, Autosomal Recessive 29 Mental Retardation, Autosomal Recessive 30 Mental Retardation, Autosomal Recessive 31 Mental Retardation, Autosomal Recessive 33 Mental Retardation, Autosomal Recessive 35 Mental Retardation, Autosomal Recessive 36 Mental Retardation, Autosomal Recessive 37 Mental Retardation, Autosomal Recessive 38 Mental Retardation, Autosomal Recessive 39 Mental Retardation, Autosomal Recessive 40 Mental Retardation, Autosomal Recessive 41 Mental Retardation, Autosomal Recessive 42 Mental Retardation, Autosomal Recessive 43 Mental Retardation, Autosomal Recessive 44 Mental Retardation, Autosomal Recessive 45 Mental Retardation, Autosomal Recessive 46 Mental Retardation, Autosomal Recessive 47 Mental Retardation, Autosomal Recessive 48 Mental Retardation, Autosomal Recessive 49 Mental Retardation, Autosomal Recessive 5 Mental Retardation, Autosomal Recessive 50 Mental Retardation, Autosomal Recessive 51 Mental Retardation, Autosomal Recessive 52 Mental Retardation, Autosomal Recessive 53 Mental Retardation, Autosomal Recessive 54 Mental Retardation, Autosomal Recessive 55 Mental Retardation, Autosomal Recessive 56 Mental Retardation, Autosomal Recessive 57 Mental Retardation, Autosomal Recessive 58 Mental Retardation, Autosomal Recessive 59 Mental Retardation, Autosomal Recessive 60 Mental Retardation, Autosomal Recessive 61 Mental Retardation, Buenos Aires Type Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 Mental Retardation, Microcephaly, Epilepsy, and Coarse Face Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies Mental Retardation, Skeletal Dysplasia, and Abducens Palsy Mental Retardation Syndrome, Belgian Type Mental Retardation Syndrome, Mietens-Weber Type Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis Mental Retardation, X-Linked 99, Syndromic, Female-Restricted Mental Retardation, X-Linked, Syndromic 13 Mental Retardation, X-Linked, Syndromic 17 Mental Retardation, X-Linked, Syndromic 32 Mental Retardation, X-Linked, Syndromic 33 Mental Retardation, X-Linked, Syndromic 34 Mental Retardation, X-Linked, Syndromic, 35 Mental Retardation, X-Linked, Syndromic 9 Mental Retardation, X-Linked, Syndromic, Christianson Type Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type Mental Retardation, X-Linked, Syndromic, Martin-Probst Type Mental Retardation, X-Linked, Syndromic, Wu Type Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance Mental Retardation, X-Linked, with Craniofacial Dysmorphism Mesocardia Mesomelia-Synostoses Syndrome Mesomelic Dysplasia, Kantaputra Type Mesomelic Dysplasia, Savarirayan Type Mesomelic Limb Shortening and Bowing Metacarpal 4-5 Fusion Metachondromatosis Metaphyseal Acroscyphodysplasia Metaphyseal Anadysplasia Metaphyseal Anadysplasia 2 Metaphyseal Chondrodysplasia, Jansen Type Metaphyseal Chondrodysplasia, Kaitila Type Metaphyseal Chondrodysplasia, Schmid Type Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness Metaphyseal Dysplasia, Braun-Tinschert Type Metaphyseal Dysplasia, Spahr Type Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth Metatropic Dysplasia Methimazole Antenatal Exposure Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type Microcephalic Osteodysplastic Primordial Dwarfism, Type I Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii Microcephalic Primordial Dwarfism, Montreal Type Microcephalic Primordial Dwarfism, Toriello Type Microcephaly Microcephaly 10, Primary, Autosomal Recessive Microcephaly 11, Primary, Autosomal Recessive Microcephaly 12, Primary, Autosomal Recessive Microcephaly 13, Primary, Autosomal Recessive Microcephaly 14, Primary, Autosomal Recessive Microcephaly 15, Primary, Autosomal Recessive Microcephaly 16, Primary, Autosomal Recessive Microcephaly 17, Primary, Autosomal Recessive Microcephaly 18, Primary, Autosomal Dominant Microcephaly 19, Primary, Autosomal Recessive Microcephaly 1, Primary, Autosomal Recessive Microcephaly 3, Primary, Autosomal Recessive Microcephaly 4, Primary, Autosomal Recessive Microcephaly 5, Primary, Autosomal Recessive Microcephaly 6, Primary, Autosomal Recessive Microcephaly 7, Primary, Autosomal Recessive Microcephaly 8, Primary, Autosomal Recessive Microcephaly 9, Primary, Autosomal Recessive Microcephaly, Amish Type Microcephaly, Autosomal Dominant Microcephaly Brain Defect Spasticity Hypernatremia Microcephaly-Capillary Malformation Syndrome Microcephaly-Cardiomyopathy Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs Microcephaly-Deafness Syndrome Microcephaly-Digital Anomalies-Intellectual Disability Syndrome Microcephaly, Epilepsy, and Diabetes Syndrome Microcephaly Microcornea Syndrome Seemanova Type Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome Microcephaly, Postnatal Progressive, with Seizures and Brain Atrophy Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome Microcephaly, Short Stature, and Polymicrogyria with or Without Seizures Microcephaly-Short Stature-Intellectual Disability-Facial Dysmorphism Syndrome Microcephaly with Cervical Spine Fusion Anomalies Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia Microcoria, Congenital Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus Microcornea Posterior Megalolenticonus Persistent Fetal Vasculature Coloboma Microcystic Lymphatic Malformation Microform Holoprosencephaly Microgastria-Limb Reduction Defects Association Microhydranencephaly Microlissencephaly Microphthalmia Microphthalmia/coloboma and Skeletal Dysplasia Syndrome Microphthalmia, Isolated 1 Microphthalmia, Isolated 2 Microphthalmia, Isolated 3 Microphthalmia, Isolated 4 Microphthalmia, Isolated 5 Microphthalmia, Isolated 6 Microphthalmia, Isolated 7 Microphthalmia, Isolated 8 Microphthalmia Microtia Fetal Akinesia Microphthalmia, Syndromic 1 Microphthalmia, Syndromic 10 Microphthalmia, Syndromic 11 Microphthalmia, Syndromic 12 Microphthalmia, Syndromic 13 Microphthalmia, Syndromic 2 Microphthalmia, Syndromic 3 Microphthalmia, Syndromic 4 Microphthalmia, Syndromic 5 Microphthalmia, Syndromic 6 Microphthalmia, Syndromic 8 Microphthalmia, Syndromic 9 Microphthalmia with Limb Anomalies Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma Microspherophakia-Metaphyseal Dysplasia Microtia Microtia-Anotia Microtia, Hearing Impairment, and Cleft Palate Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma Microtriplication 11q24.1 Midline Cervical Cleft Midline Interhemispheric Variant of Holoprosencephaly Miller-Dieker Lissencephaly Syndrome Mirage Syndrome Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes Mitochondrial Myopathy with Lactic Acidosis Mitral Atresia Mitral Valve Agenesis Mitral Valve Prolapse 1 Mitral Valve Prolapse 2 Mitral Valve Prolapse 3 Mitral Valve Prolapse, Familial, Autosomal Dominant Mixed Cystic Lymphatic Malformation Mixed Gonadal Dysgenesis Mixed Sclerosing Bone Dystrophy with Extra-Skeletal Manifestations Mixed Type Rhabdomyosarcoma Moebius Syndrome Mohr Syndrome Moloney Syndrome Molybdenum Cofactor Deficiency, Complementation Group a Molybdenum Cofactor Deficiency, Complementation Group B Molybdenum Cofactor Deficiency, Complementation Group C Momo Syndrome Monosomy 13q34 Monosomy 21 Monosomy 22 Monosomy 9q22.3 Monostotic Fibrous Dysplasia Morse-Rawnsley-Sargent Syndrome Mosaic Genome-Wide Paternal Uniparental Disomy Mosaic Monosomy X Mosaic Trisomy 1 Mosaic Trisomy 12 Mosaic Trisomy 14 Mosaic Trisomy 15 Mosaic Trisomy 17 Mosaic Trisomy 22 Mosaic Trisomy 3 Mosaic Trisomy 4 Mosaic Trisomy 5 Mosaic Trisomy 7 Mosaic Trisomy 8 Mosaic Trisomy 9 Mosaic Variegated Aneuploidy Syndrome Mosaic Variegated Aneuploidy Syndrome 1 Mosaic Variegated Aneuploidy Syndrome 2 Mosaic Variegated Aneuploidy Syndrome 3 Mowat-Wilson Syndrome Mowat-Wilson Syndrome Due to a Zeb2 Point Mutation Mowat-Wilson Syndrome Due to Monosomy 2q22 Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism Mseleni Joint Disease Mucolipidosis Ii Alpha/beta Mucolipidosis Iii Alpha/beta Mucolipidosis Iii Gamma Mucolipidosis Iv Mucopolysaccharidosis Iii Mucopolysaccharidosis Iv Mucopolysaccharidosis-Plus Syndrome Mucopolysaccharidosis Type 2, Attenuated Form Mucopolysaccharidosis Type 2, Severe Form Mucopolysaccharidosis Type 6, Rapidly Progressing Mucopolysaccharidosis Type 6, Slowly Progressing Mucopolysaccharidosis, Type Ii Mucopolysaccharidosis, Type Iiia Mucopolysaccharidosis, Type Iiib Mucopolysaccharidosis, Type Iiic Mucopolysaccharidosis, Type Iiid Mucopolysaccharidosis, Type Iva Mucopolysaccharidosis, Type Ivb Mucopolysaccharidosis, Type Ix Mucopolysaccharidosis Type Vi Mucopolysaccharidosis, Type Vii Mulchandani-Bhoj-Conlin Syndrome Mulibrey Nanism Mullerian Aplasia and Hyperandrogenism Mullerian Derivatives, Persistence of, with Lymphangiectasia and Postaxial Polydactyly Mullerian Duct Aplasia, Unilateral Renal Agenesis, and Cervicothoracic Somite Anomalies Multicentric Carpotarsal Osteolysis Syndrome Multicentric Osteolysis, Nodulosis, and Arthropathy Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum Multicystic Dysplastic Kidney Multifocal Lymphangioendotheliomatosis with Thrombocytopenia Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 Multiple Congenital Anomalies Syndrome with Cloverleaf Skull Multiple Enchondromatosis, Maffucci Type Multiple Epiphyseal Dysplasia Multiple Epiphyseal Dysplasia, Autosomal Dominant Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly Multiple Epiphyseal Dysplasia, Recessive Multiple Epiphyseal Dysplasia with Robin Phenotype Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects Multiple Pterygium Syndrome, Escobar Variant Multiple Pterygium Syndrome, Lethal Type Multiple Pterygium Syndrome, X-Linked Multiple Sulfatase Deficiency Multiple Synostoses Syndrome Multiple Synostoses Syndrome 1 Multiple Synostoses Syndrome 2 Multiple Synostoses Syndrome 3 Muscle Eye Brain Disease Muscular Dystrophy-Dystroglycanopathy Muscular Dystrophy-Dystroglycanopathy , Type a, 1 Muscular Dystrophy-Dystroglycanopathy , Type a, 10 Muscular Dystrophy-Dystroglycanopathy , Type a, 11 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 Muscular Dystrophy-Dystroglycanopathy , Type a, 13 Muscular Dystrophy-Dystroglycanopathy , Type a, 14 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 Muscular Dystrophy-Dystroglycanopathy , Type a, 6 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 Muscular Dystrophy-Dystroglycanopathy , Type a, 8 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 Muscular Dystrophy-Dystroglycanopathy , Type B, 14 Muscular Dystrophy-Dystroglycanopathy , Type B, 2 Muscular Dystrophy-Dystroglycanopathy , Type B, 3 Muscular Dystrophy-Dystroglycanopathy , Type B, 4 Muscular Dystrophy-Dystroglycanopathy , Type B, 5 Muscular Dystrophy-Dystroglycanopathy , Type B, 6 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 Muscular Dystrophy-Dystroglycanopathy , Type C, 12 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 Muscular Dystrophy-Dystroglycanopathy , Type C, 2 Muscular Dystrophy-Dystroglycanopathy , Type C, 3 Muscular Dystrophy-Dystroglycanopathy , Type C, 4 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 Muscular Dystrophy-Dystroglycanopathy , Type C, 7 Muscular Dystrophy-Dystroglycanopathy , Type C, 9 Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome Musculocontractural Ehlers-Danlos Syndrome Mycophenolate Mofetil Embryopathy Myelocystocele Myelomeningocele Myhre Syndrome Myoclonus, Cerebellar Ataxia, and Deafness Myopathy, Congenital, Compton-North Myopathy-Growth Delay-Intellectual Disability-Hypospadias Syndrome Myopathy, Mitochondrial Progressive, with Congenital Cataract, Hearing Loss, and Developmental Delay Myotonia with Skeletal Abnormalities and Mental Retardation Myotubular Myopathy with Abnormal Genital Development Nablus Mask-Like Facial Syndrome Naegeli-Franceschetti-Jadassohn Syndrome Nail Disease Nail Disorder, Nonsyndromic Congenital, 1 Nail Disorder, Nonsyndromic Congenital, 10 Nail Disorder, Nonsyndromic Congenital, 2 Nail Disorder, Nonsyndromic Congenital, 3 Nail Disorder, Nonsyndromic Congenital, 4 Nail Disorder, Nonsyndromic Congenital, 5 Nail Disorder, Nonsyndromic Congenital, 6 Nail Disorder, Nonsyndromic Congenital, 7 Nail Disorder, Nonsyndromic Congenital, 8 Nail Disorder, Nonsyndromic Congenital, 9 Nail-Patella Syndrome Nance-Horan Syndrome Nasal Dorsum Fistula/cyst Nasal Encephalocele Nasal Glial Heterotopia Nasodigitoacoustic Syndrome Nasolacrimal Duct Cyst Nasopalpebral Lipoma-Coloboma Syndrome Nathalie Syndrome Native American Myopathy Neonatal Candidiasis Neonatal Diabetes Mellitus Neonatal Infective Mastitis Neonatal Jaundice Neonatal Myasthenia Gravis Neonatal Ovarian Cyst Neonatal Respiratory Failure Nephropathy, Deafness, and Hyperparathyroidism Nephropathy with Pretibial Epidermolysis Bullosa and Deafness Nephrosis with Deafness and Urinary Tract and Digital Malformations Nestor-Guillermo Progeria Syndrome Netherton Syndrome Neu-Laxova Syndrome 1 Neuraminidase Deficiency Neurenteric Cyst Neurilemmomatosis Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Hip Dysplasia Syndrome Due to 9q21 Microdeletion Neurodevelopmental Disorder with or Without Anomalies of the Brain, Eye, or Heart Neuroectodermal Endocrine Syndrome Neurofaciodigitorenal Syndrome Neurofibromatosis-Noonan Syndrome Neurofibromatosis, Type I Neurofibromatosis, Type Ii Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers Neuropathy, Hereditary Sensory, Type Id Neuropathy, Hereditary Sensory, Type Ie Neuropathy, Hereditary Sensory, Type if Neuropathy, Hereditary Sensory, Type Iic Neuropathy, Hereditary, with Liability to Pressure Palsies Neuropathy with Hearing Impairment Neutropenia Monocytopenia Deafness Newborn Respiratory Distress Syndrome Nicolaides-Baraitser Syndrome Nievergelt Syndrome Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome Nijmegen Breakage Syndrome Nijmegen Breakage Syndrome-Like Disorder Nodular Neuronal Heterotopia Non-Central Nervous System-Localized Embryonal Carcinoma Non-Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency Non-Distal Monosomy 10q Non-Distal Monosomy 12q Non-Distal Monosomy 20q Non-Distal Monosomy 7p Non-Distal Trisomy 10q Non-Distal Trisomy 13q Non-Distal Trisomy 9q Non-Gestational Choriocarcinoma Non-Gestational Ovarian Choriocarcinoma Non-Involuting Congenital Hemangioma Nonsyndromic Deafness Nonsyndromic Holoprosencephaly Noonan Syndrome 1 Noonan Syndrome 10 Noonan Syndrome 2 Noonan Syndrome 3 Noonan Syndrome 4 Noonan Syndrome 5 Noonan Syndrome 6 Noonan Syndrome 7 Noonan Syndrome 8 Noonan Syndrome 9 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia Noonan Syndrome with Multiple Lentigines Norrie Disease Nuchal Bleb, Familial Occipital Encephalocele Occipital Horn Syndrome Oculoauriculofrontonasal Syndrome Oculocerebral Syndrome with Hypopigmentation Oculocerebrocutaneous Syndrome Oculodentodigital Dysplasia Oculodentodigital Dysplasia, Autosomal Recessive Oculodentodigital Dysplasia Dominant Oculoectodermal Syndrome Oculomaxillofacial Dysostosis Oculopalatocerebral Syndrome Oculo Skeletal Renal Syndrome Oculotrichodysplasia Odontoma-Dysphagia Syndrome Odontomicronychial Dysplasia Odontoonychodermal Dysplasia Odonto Onycho Dysplasia with Alopecia Odontotrichoungual-Digital-Palmar Syndrome Oeis Complex Ogden Syndrome Ohdo Syndrome Ohdo Syndrome, Sbbys Variant Ohdo Syndrome, X-Linked Okihiro Syndrome Due to 20q13 Microdeletion Okihiro Syndrome Due to a Point Mutation Oligodontia-Colorectal Cancer Syndrome Oligohydramnios Oligomeganephronic Renal Hypoplasia Oliver-Mcfarlane Syndrome Oliver Syndrome Olivopontocerebellar Atrophy Olivopontocerebellar Atrophy Deafness Olivopontocerebellar Atrophy Ii, Autosomal Recessive Olivopontocerebellar Atrophy V Omodysplasia Omodysplasia 1 Omodysplasia 2 Omphalocele Omphalocele, Autosomal Omphalocele-Cleft Palate Syndrome, Lethal Omphalomesenteric Cyst Onychodystrophy-Anonychia Open Iniencephaly Ophthalmomandibulomelic Dysplasia Ophthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency Opitz-Gbbb Syndrome Opitz Gbbb Syndrome, Type I Opitz Gbbb Syndrome, Type Ii Opitz-Kaveggia Syndrome Opsismodysplasia Optic Disc Anomalies with Retinal and/or Macular Dystrophy Oral and Digital Anomalies with Ichthyosis Orbit Embryonal Rhabdomyosarcoma Orofacial Cleft Orofacial Cleft 1 Orofacial Cleft 10 Orofacial Cleft 11 Orofacial Cleft 12 Orofacial Cleft 13 Orofacial Cleft 14 Orofacial Cleft 15 Orofacial Cleft 2 Orofacial Cleft 3 Orofacial Cleft 4 Orofacial Cleft 5 Orofacial Cleft 6 Orofacial Cleft 9 Orofaciodigital Syndrome Orofaciodigital Syndrome 12 Orofaciodigital Syndrome 13 Orofaciodigital Syndrome I Orofaciodigital Syndrome Iii Orofaciodigital Syndrome Iv Orofaciodigital Syndrome Ix Orofaciodigital Syndrome V Orofaciodigital Syndrome Vi Orofaciodigital Syndrome Vii Orofaciodigital Syndrome Viii Orofaciodigital Syndrome X Orofaciodigital Syndrome Xi Orofaciodigital Syndrome Xiv Orofaciodigital Syndrome Xv Orofaciodigital Syndrome Xvi Osebold-Remondini Syndrome Oslam Syndrome Osseous Heteroplasia, Progressive Ossification Anomalies-Psychomotor Developmental Delay Syndrome Osteoarthritis with Mild Chondrodysplasia Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type Osteochondrodysplatic Nanism-Deafness-Retinitis Pigmentosa Syndrome Osteodysplasia, Familial, Anderson Type Osteofibrous Dysplasia Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome Osteogenesis Imperfecta, Type I Osteogenesis Imperfecta, Type Ii Osteogenesis Imperfecta, Type Iii Osteogenesis Imperfecta, Type Iv Osteogenesis Imperfecta, Type Ix Osteogenesis Imperfecta, Type V Osteogenesis Imperfecta, Type Vi Osteogenesis Imperfecta, Type Vii Osteogenesis Imperfecta, Type Viii Osteogenesis Imperfecta, Type X Osteogenesis Imperfecta, Type Xi Osteogenesis Imperfecta, Type Xii Osteogenesis Imperfecta, Type Xiii Osteogenesis Imperfecta, Type Xiv Osteogenesis Imperfecta, Type Xv Osteogenesis Imperfecta, Type Xvi Osteogenesis Imperfecta, Type Xvii Osteoglophonic Dysplasia Osteolysis Syndrome, Recessive Osteomesopyknosis Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis Osteopathia Striata with Cranial Sclerosis Osteopathia Striata with Pigmentary Dermopathy Including White Forelock Osteopenia and Sparse Hair Osteopenia-Myopia-Hearing Loss-Intellectual Disability-Facial Dysmorphism Syndrome Osteopetrosis Osteopetrosis, Autosomal Dominant 1 Osteopetrosis, Autosomal Dominant 2 Osteopetrosis, Autosomal Recessive 1 Osteopetrosis, Autosomal Recessive 2 Osteopetrosis, Autosomal Recessive 3 Osteopetrosis, Autosomal Recessive 4 Osteopetrosis, Autosomal Recessive 5 Osteopetrosis, Autosomal Recessive 6 Osteopetrosis, Autosomal Recessive 7 Osteopetrosis, Autosomal Recessive 8 Osteopoikilosis and Dacryocystitis Osteoporosis Osteoporosis and Oculocutaneous Hypopigmentation Syndrome Osteoporosis, Juvenile Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome Osteoporosis-Pseudoglioma Syndrome Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome Osteosclerosis with Ichthyosis and Premature Ovarian Failure Otodental Dysplasia Otofaciocervical Syndrome 1 Otofaciocervical Syndrome 2 Otoonychoperoneal Syndrome Otopalatodigital Spectrum Disorders Otopalatodigital Syndrome Otopalatodigital Syndrome, Type I Otopalatodigital Syndrome, Type Ii Otospondylomegaepiphyseal Dysplasia Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive Ovarian Dysgenesis 1 Ovarian Dysgenesis 2 Ovarian Dysgenesis 3 Ovarian Dysgenesis 4 Ovarian Dysgenesis 5 Ovarian Embryonal Carcinoma Overgrowth Syndrome with 2q37 Translocations Pachygyria, Frontotemporal Pachyonychia Congenita 1 Pachyonychia Congenita 2 Pachyonychia Congenita 3 Pachyonychia Congenita 4 Pachyonychia Congenita, Autosomal Recessive Pacman Dysplasia Paget Disease of Bone 5, Juvenile-Onset Pagod Syndrome Palatopharyngeal Incompetence Pallister-Killian Syndrome Pallister W Syndrome Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal Palmoplantar Keratoderma and Congenital Alopecia 1 Palmoplantar Keratoderma and Congenital Alopecia 2 Pancreas, Annular Pancreatic Agenesis Pancreatic Agenesis 1 Pancreatic Agenesis 2 Pancreatic and Cerebellar Agenesis Papillon-Lefevre Syndrome Papillorenal Syndrome Parachute Tricuspid Valve Paramedian Nasal Cleft Parameningeal Embryonal Rhabdomyosarcoma Parastremmatic Dwarfism Parc Syndrome Parietal Encephalocele Parietal Foramina Parietal Foramina 1 Parietal Foramina 2 Parietal Foramina 3 Parietal Foramina with Cleidocranial Dysplasia Parkes Weber Syndrome Parovarian Cyst Partial Atrioventricular Canal Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia with Posterior Fossa Cysts Syndrome Partial Cryptophthalmia Partial Deletion of Y Partial Fetal Alcohol Syndrome Partially Involuting Congenital Hemangioma Partial Septate Uterus Patau Syndrome Patella Aplasia-Hypoplasia Patella Aplasia/hypoplasia, Bilateral Patella Aplasia/hypoplasia, Unilateral Patella, Chondromalacia of Patella, Familial Recurrent Dislocation of Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies Patent Foramen Ovale Patent Urachus Paternal 20q13.2q13.3 Microdeletion Syndrome Paternal Uniparental Disomy of Chromosome 1 Paternal Uniparental Disomy of Chromosome 13 Paternal Uniparental Disomy of Chromosome 20 Paternal Uniparental Disomy of Chromosome 21 Paternal Uniparental Disomy of Chromosome 5 Paternal Uniparental Disomy of Chromosome 6 Paternal Uniparental Disomy of Chromosome 7 Paternal Uniparental Disomy of Chromosome X Pectus Excavatum, Macrocephaly, Short Stature, and Dysplastic Nails Pediatric Cns Embryonal Cell Carcinoma Pelvic Hypoplasia with Lower-Limb Arthrogryposis Pelvis-Shoulder Dysplasia Pendred Syndrome Penile Agenesis Penoscrotal Transposition Pericardial and Diaphragmatic Defect Perinatal Intestinal Perforation Perinatal Necrotizing Enterocolitis Periodontal Ehlers-Danlos Syndrome Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease Peripheral Dysostosis Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss Periventricular Nodular Heterotopia Periventricular Nodular Heterotopia 1 Periventricular Nodular Heterotopia 6 Periventricular Nodular Heterotopia 7 Perlman Syndrome Peroxisome Biogenesis Disorder 10a Peroxisome Biogenesis Disorder 10b Peroxisome Biogenesis Disorder 11a Peroxisome Biogenesis Disorder 11b Peroxisome Biogenesis Disorder 12a Peroxisome Biogenesis Disorder 13a Peroxisome Biogenesis Disorder 14b Peroxisome Biogenesis Disorder 1a Peroxisome Biogenesis Disorder 1b Peroxisome Biogenesis Disorder 2a Peroxisome Biogenesis Disorder 2b Peroxisome Biogenesis Disorder 3a Peroxisome Biogenesis Disorder 3b Peroxisome Biogenesis Disorder 4a Peroxisome Biogenesis Disorder 4b Peroxisome Biogenesis Disorder 5a Peroxisome Biogenesis Disorder 5b Peroxisome Biogenesis Disorder 6a Peroxisome Biogenesis Disorder 6b Peroxisome Biogenesis Disorder 7a Peroxisome Biogenesis Disorder 7b Peroxisome Biogenesis Disorder 8a Peroxisome Biogenesis Disorder 8b Peroxisome Biogenesis Disorder 9b Perrault Syndrome Perrault Syndrome 1 Perrault Syndrome 2 Perrault Syndrome 3 Perrault Syndrome 4 Perrault Syndrome 5 Perrault Syndrome 6 Persistent Eustachian Valve Persistent Fetal Circulation Syndrome Persistent Fifth Aortic Arch Persistent Hyperplastic Primary Vitreous Persistent Hyperplastic Primary Vitreous, Autosomal Dominant Persistent Hyperplastic Primary Vitreous, Autosomal Recessive Persistent Left Superior Vena Cava Connecting to the Left-Sided Atrium Persistent Mullerian Duct Syndrome Persistent Mullerian Duct Syndrome, Types I and Ii Peters Anomaly-Cataract Syndrome Peters-Plus Syndrome Pettigrew Syndrome Peutz-Jeghers Syndrome Pfeiffer-Palm-Teller Syndrome Pfeiffer Syndrome Phacomatosis Pigmentovascularis Phakomatosis Cesioflammea Phakomatosis Cesiomarmorata Phakomatosis Pigmentokeratotica Phakomatosis Spilorosea Phalangeal Microgeodic Syndrome Phaver Syndrome Phelan-Mcdermid Syndrome Phenobarbital Antenatal Exposure Phenylketonuria Phocomelia Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus Arrhythmia Pierpont Syndrome Pierre Robin Sequence with Facial and Digital Anomalies Pierre Robin Syndrome Pierre Robin Syndrome and Oligodactyly Pigmentation Defects-Palmoplantar Keratoderma-Skin Carcinoma Syndrome Pili Torti Onychodysplasia Pilodental Dysplasia with Refractive Errors Pilotto Syndrome Pinheiro Freire-Maia Miranda Syndrome Pinnae Fistula or Cyst Pitt-Hopkins-Like Syndrome Pitt-Hopkins-Like Syndrome 1 Pitt-Hopkins-Like Syndrome 2 Pitt-Hopkins Syndrome Pituitary Hormone Deficiency, Combined, 3 Placenta Accreta Placenta Disease Placental Abruption Placental Choriocarcinoma Placental Insufficiency Placental Site Trophoblastic Tumor Placenta Praevia Platyspondylic Lethal Skeletal Dysplasia, Torrance Type Pleuro-Pericardial Cyst Poland Syndrome Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy Polydactyly of a Biphalangeal Thumb, Bilateral Polydactyly of a Biphalangeal Thumb, Unilateral Polydactyly of an Index Finger, Bilateral Polydactyly of an Index Finger, Unilateral Polydactyly of a Triphalangeal Thumb, Bilateral Polydactyly of a Triphalangeal Thumb, Unilateral Polydactyly, Postaxial, Type A1 Polydactyly, Postaxial, Type A2 Polydactyly, Postaxial, Type A3 Polydactyly, Postaxial, Type A4 Polydactyly, Postaxial, Type A5 Polydactyly, Postaxial, Type A6 Polydactyly, Postaxial, Type A7 Polydactyly, Postaxial, with Dental and Vertebral Anomalies Polydactyly, Postaxial, with Progressive Myopia Polydactyly, Preaxial I Polydactyly, Preaxial Ii Polydactyly, Preaxial Iii Polydactyly, Preaxial Iv Polyhydramnios Polymicrogyria, Bilateral Frontoparietal Polymicrogyria, Bilateral Perisylvian, X-Linked Polymicrogyria, Bilateral Temporooccipital Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes Polyrrhinia Polysyndactyly, Bilateral Polysyndactyly, Crossed Polysyndactyly, Unilateral Polysyndactyly with Cardiac Malformation Polyvalvular Heart Disease Syndrome Pontine Tegmental Cap Dysplasia Pontocerebellar Hypoplasia Pontocerebellar Hypoplasia Type 1 Pontocerebellar Hypoplasia, Type 10 Pontocerebellar Hypoplasia, Type 11 Pontocerebellar Hypoplasia, Type 1a Pontocerebellar Hypoplasia, Type 1b Pontocerebellar Hypoplasia, Type 1c Pontocerebellar Hypoplasia, Type 2a Pontocerebellar Hypoplasia, Type 2b Pontocerebellar Hypoplasia, Type 2c Pontocerebellar Hypoplasia, Type 2d Pontocerebellar Hypoplasia, Type 2e Pontocerebellar Hypoplasia, Type 2f Pontocerebellar Hypoplasia, Type 3 Pontocerebellar Hypoplasia, Type 4 Pontocerebellar Hypoplasia, Type 5 Pontocerebellar Hypoplasia, Type 6 Pontocerebellar Hypoplasia, Type 7 Pontocerebellar Hypoplasia, Type 8 Pontocerebellar Hypoplasia, Type 9 Popliteal Pterygium Syndrome Porencephaly Porencephaly 1 Porencephaly 2 Porencephaly, Cerebellar Hypoplasia, and Internal Malformations Poretti-Boltshauser Syndrome Postaxial Acrofacial Dysostosis Postaxial Oligodactyly, Tetramelic Postaxial Polydactyly of Toes Postaxial Polydactyly of Toes, Bilateral Postaxial Polydactyly Type a, Bilateral Postaxial Polydactyly Type a, Unilateral Postaxial Polydactyly Type B, Bilateral Postaxial Polydactyly Type B, Unilateral Posterior Hypospadias Posterior Meningocele Posterior Urethral Valves Potocki-Lupski Syndrome Potocki-Shaffer Syndrome Prader-Willi Habitus, Osteopenia, and Camptodactyly Prader-Willi-Like Syndrome Due to a Point Mutation Prader-Willi Syndrome Prader-Willi Syndrome Due to Imprinting Mutation Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15 Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2 Prader-Willi Syndrome Due to Translocation Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias Preaxial Hallucal Polydactyly Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome Preaxial Polydactyly of Toes Pregnancy Loss, Recurrent 1 Preimplantation Embryonic Lethality 1 Preimplantation Embryonic Lethality 2 Premature Aging Syndrome, Penttinen Type Premature Closure of the Arterial Duct Prenatal Benign Hypophosphatasia Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures Primary Congenital Glaucoma Primary Hypertrophic Osteoarthropathy Primary Intralymphatic Angioendothelioma Primary Laryngeal Lymphangioma Primary Megaureter, Adult-Onset Form Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome Primary Syringomyelia Primary Tethered Cord Syndrome Proboscis Lateralis Progeroid Short Stature with Pigmented Nevi Progeroid Syndrome, Neonatal Prognathism, Mandibular Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 Progressive Non-Infectious Anterior Vertebral Fusion Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome Propylthiouracil Embryofetopathy Prostate Embryonal Rhabdomyosarcoma Proteus-Like Syndrome Proteus Syndrome Proximal Symphalangism Prune Belly Syndrome Pseudoachondroplasia Pseudodiastrophic Dysplasia Pseudohermaphroditism, Female, with Skeletal Anomalies Pseudohypoparathyroidism Pseudohypoparathyroidism, Type Ia Pseudohypoparathyroidism, Type Ib Pseudohypoparathyroidism, Type Ic Pseudohypoparathyroidism, Type Ii Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies Pseudopseudohypoparathyroidism Pseudotrisomy 13 Syndrome Pseudo-Turner Syndrome Pseudounicornuate Uterus Pseudovaginal Perineoscrotal Hypospadias Pseudoxanthoma Elasticum Pterygia, Mental Retardation, and Distinctive Craniofacial Features Pterygium Colli and Mental Retardation with Facial and Digital Anomalies Ptosis-Syndactyly-Learning Difficulties Syndrome Pulmonary Arteriovenous Fistulas Pulmonary Artery Choriocarcinoma Pulmonary Artery Coming from Patent Ductus Arteriosus Pulmonary Artery Coming from the Aorta Pulmonary Artery Hypoplasia Pulmonary Atresia with Intact Ventricular Septum Pulmonary Atresia with Ventricular Septal Defect Pulmonary Branches Stenosis Pulmonary Immaturity Pulmonary Sequestration Pulmonary Supravalvular Stenosis Pulmonary Valve Agenesis-Tetralogy of Fallot-Absence of Ductus Arteriosus Syndrome Pulmonary Valve Agenesis-Ventricular Septal Defect-Persistent Ductus Arteriosus Syndrome Pulmonary Valve Stenosis Pulmonic Stenosis Pycnodysostosis Pyknoachondrogenesis Pyle Disease Pyruvate Dehydrogenase E1-Alpha Deficiency Pyruvate Dehydrogenase E1-Beta Deficiency Pyruvate Dehydrogenase E2 Deficiency Pyruvate Dehydrogenase E3-Binding Protein Deficiency Pyruvate Dehydrogenase Phosphatase Deficiency Radial Aplasia, X-Linked Radial Deficiency-Tibial Hypoplasia Syndrome Radial Hemimelia Radial Hemimelia, Bilateral Radial Hemimelia, Unilateral Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, and Maxillary Diastema Radial Ray Hypoplasia with Choanal Atresia Radial-Renal Syndrome Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies Radioulnar Synostosis Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome Radio-Ulnar Synostosis, Bilateral Radio-Ulnar Synostosis, Unilateral Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation Raine Syndrome Ramer Ladda Syndrome Ramon Syndrome Rapadilino Syndrome Rapidly Involuting Congenital Hemangioma Recessive Dystrophic Epidermolysis Bullosa-Generalized Other Recombinant Chromosome 8 Syndrome Rectal Duplication Regressive Spondylometaphyseal Dysplasia Renal Agenesis, Bilateral Renal Agenesis, Unilateral Renal Caliceal Diverticuli Deafness Renal Cysts and Diabetes Syndrome Renal Dysplasia Renal Dysplasia, Bilateral Renal Dysplasia-Limb Defects Syndrome Renal Dysplasia, Unilateral Renal, Genital, and Middle Ear Anomalies Renal-Hepatic-Pancreatic Dysplasia Renal-Hepatic-Pancreatic Dysplasia 1 Renal-Hepatic-Pancreatic Dysplasia 2 Renal Hypodysplasia/aplasia 1 Renal Hypodysplasia/aplasia 2 Renal Hypodysplasia/aplasia 3 Renal Hypoplasia Renal Hypoplasia, Bilateral Renal Hypoplasia, Unilateral Renal Tubular Dysgenesis Renal Tubular Dysgenesis Due to Twin-Twin Transfusion Renpenning Syndrome 1 Respiratory Failure Restrictive Dermopathy, Lethal Retiform Hemangioendothelioma Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis Retinal Capillary Malformation Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism Retinitis Pigmentosa with or Without Skeletal Anomalies Retinoschisis 1, X-Linked, Juvenile Retrocerebellar Cyst Reunion Island Larsen Syndrome Rhabdomyosarcoma, Embryonal, 1 Rhabdomyosarcoma, Embryonal, 2 Rhizomelic Chondrodysplasia Punctata Rhizomelic Chondrodysplasia Punctata, Type 1 Rhizomelic Chondrodysplasia Punctata, Type 2 Rhizomelic Chondrodysplasia Punctata, Type 3 Rhizomelic Chondrodysplasia Punctata, Type 5 Rhizomelic Dysplasia, Patterson-Lowry Type Rhizomelic Syndrome Rhombencephalosynapsis Richards-Rundle Syndrome Richieri-Costa/guion-Almeida Syndrome Right Aortic Arch Right Atrial Isomerism Right Inferior Vena Cava Connecting to Left-Sided Atrium Right Superior Vena Cava Connecting to Left-Sided Atrium Right Ventricular Hypoplasia, Isolated Ring Chromosome 1 Ring Chromosome 10 Ring Chromosome 11 Ring Chromosome 12 Ring Chromosome 13 Ring Chromosome 14 Syndrome Ring Chromosome 15 Ring Chromosome 16 Ring Chromosome 17 Ring Chromosome 18 Ring Chromosome 19 Ring Chromosome 2 Ring Chromosome 20 Ring Chromosome 21 Ring Chromosome 22 Ring Chromosome 3 Ring Chromosome 4 Ring Chromosome 5 Ring Chromosome 6 Ring Chromosome 7 Ring Chromosome 8 Ring Chromosome 9 Ring Chromosome Y Syndrome Ritscher-Schinzel Syndrome Ritscher-Schinzel Syndrome 1 Ritscher-Schinzel Syndrome 2 Roberts Syndrome Robinow-Like Syndrome Robinow Syndrome Robinow Syndrome, Autosomal Dominant 1 Robinow Syndrome, Autosomal Dominant 2 Robinow Syndrome, Autosomal Dominant 3 Robinow Syndrome, Autosomal Recessive Robin Sequence with Cleft Mandible and Limb Anomalies Robin Sequence with Distinctive Facial Appearance and Brachydactyly Rodrigues Blindness Roifman-Chitayat Syndrome Roifman Syndrome Ror2-Related Robinow Syndrome Rothmund-Thomson Syndrome Rothmund-Thomson Syndrome Type 1 Rothmund-Thomson Syndrome Type 2 Rubella Rubinstein Taybi Like Syndrome Rubinstein-Taybi Syndrome 1 Rubinstein-Taybi Syndrome 2 Ruijs-Aalfs Syndrome Rutherfurd Syndrome Ruvalcaba Syndrome Sacral Agenesis with Vertebral Anomalies Sacral Defect with Anterior Meningocele Sacral Meningocele Conotruncal Heart Defects Satb2-Associated Syndrome Say Carpenter Syndrome Say Syndrome Scalp Defects and Postaxial Polydactyly Scaphocephaly, Maxillary Retrusion, and Mental Retardation Scarf Syndrome Schaaf-Yang Syndrome Scheie Syndrome Schimke Immunoosseous Dysplasia Schimmelpenning-Feuerstein-Mims Syndrome Schisis Association Schizencephaly Schneckenbecken Dysplasia Scholte Syndrome Schopf-Schulz-Passarge Syndrome Schuurs-Hoeijmakers Syndrome Schwartz-Jampel Syndrome, Type 1 Sclerocornea Sclerocornea, Autosomal Dominant Sclerosteosis Sclerosteosis 1 Sclerosteosis 2 Scoliosis, Arachnodactyly, and Blindness Scott Bryant Graham Syndrome Sc Phocomelia Syndrome Seaver Cassidy Syndrome Seckel Syndrome Seckel Syndrome 1 Seckel Syndrome 10 Seckel Syndrome 2 Seckel Syndrome 4 Seckel Syndrome 5 Seckel Syndrome 6 Seckel Syndrome 7 Seckel Syndrome 8 Seckel Syndrome 9 Secondary Hypertrophic Osteoarthropathy Secondary Short Bowel Syndrome Secondary Syringomyelia Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome Segmental Progressive Overgrowth Syndrome with Fibroadipose Hyperplasia Seizures, Cortical Blindness, and Microcephaly Syndrome Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Semilobar Holoprosencephaly Semmekrot Haraldsson Weemaes Syndrome Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome Sensory Neuropathy Type 1 Septate Vagina Septopreoptic Holoprosencephaly Severe Acute Respiratory Syndrome Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome Severe Lateral Tibial Bowing with Short Stature Shone Complex Short Bowel Syndrome Short Qt Syndrome Short Qt Syndrome 1 Short Qt Syndrome 2 Short Qt Syndrome 3 Short-Rib Thoracic Dysplasia 12 Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome Short Stature, Developmental Delay, and Congenital Heart Defects Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies Short Stature, Idiopathic, X-Linked Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly Short Stature Syndrome, Brussels Type Short Syndrome Short Tarsus with Absence of Lower Eyelashes Shprintzen Omphalocele Syndrome Shwachman-Diamond Syndrome Silver-Russell Syndrome Silver-Russell Syndrome Due to 11p15 Microduplication Silver-Russell Syndrome Due to 7p11.2p13 Microduplication Silver-Russell Syndrome Due to an Imprinting Defect of 11p15 Silver-Russell Syndrome Due to a Point Mutation Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11 Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 7 Simosa Craniofacial Syndrome Simpson-Golabi-Behmel Syndrome Simpson-Golabi-Behmel Syndrome, Type 1 Simpson-Golabi-Behmel Syndrome, Type 2 Singleton-Merten Syndrome Singleton-Merten Syndrome 1 Singleton-Merten Syndrome 2 Six2-Related Frontonasal Dysplasia Skin Fragility-Woolly Hair Syndrome Smith-Kingsmore Syndrome Smith-Lemli-Opitz Syndrome Smith-Magenis Syndrome Smith-Mccort Dysplasia 1 Smith-Mccort Dysplasia 2 Solitary Median Maxillary Central Incisor Somatomedin, Embryonic Sonoda Syndrome Sotos Syndrome 1 Sotos Syndrome 2 Sotos Syndrome 3 Sparse Hair-Short Stature-Skin Anomalies Syndrome Spastic Paraparesis and Deafness Spastic Paraplegia and Psychomotor Retardation with or Without Seizures Spastic Paraplegia-Paget Disease of Bone Syndrome Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy Speech Development, Delayed, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease Spigelian Hernia-Cryptorchidism Syndrome Spina Bifida Aperta Spina Bifida Hypospadias Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome Spinal Muscular Atrophy, X-Linked 2 Spindle Cell Hemangioma Spinocerebellar Ataxia 1 Spinocerebellar Ataxia 10 Spinocerebellar Ataxia 11 Spinocerebellar Ataxia 12 Spinocerebellar Ataxia 13 Spinocerebellar Ataxia 14 Spinocerebellar Ataxia 15 Spinocerebellar Ataxia 17 Spinocerebellar Ataxia 18 Spinocerebellar Ataxia 19 Spinocerebellar Ataxia 2 Spinocerebellar Ataxia 20 Spinocerebellar Ataxia 21 Spinocerebellar Ataxia 23 Spinocerebellar Ataxia 25 Spinocerebellar Ataxia 26 Spinocerebellar Ataxia 27 Spinocerebellar Ataxia 28 Spinocerebellar Ataxia 29 Spinocerebellar Ataxia 30 Spinocerebellar Ataxia 31 Spinocerebellar Ataxia 32 Spinocerebellar Ataxia 34 Spinocerebellar Ataxia 35 Spinocerebellar Ataxia 36 Spinocerebellar Ataxia 37 Spinocerebellar Ataxia 38 Spinocerebellar Ataxia 4 Spinocerebellar Ataxia 40 Spinocerebellar Ataxia 41 Spinocerebellar Ataxia 42 Spinocerebellar Ataxia 43 Spinocerebellar Ataxia 44 Spinocerebellar Ataxia 45 Spinocerebellar Ataxia 46 Spinocerebellar Ataxia 5 Spinocerebellar Ataxia 6 Spinocerebellar Ataxia 7 Spinocerebellar Ataxia 8 Spinocerebellar Ataxia 9 Spinocerebellar Ataxia, Autosomal Recessive 1 Spinocerebellar Ataxia, Autosomal Recessive 10 Spinocerebellar Ataxia, Autosomal Recessive 11 Spinocerebellar Ataxia, Autosomal Recessive 12 Spinocerebellar Ataxia, Autosomal Recessive 13 Spinocerebellar Ataxia, Autosomal Recessive 14 Spinocerebellar Ataxia, Autosomal Recessive 15 Spinocerebellar Ataxia, Autosomal Recessive 16 Spinocerebellar Ataxia, Autosomal Recessive 17 Spinocerebellar Ataxia, Autosomal Recessive 18 Spinocerebellar Ataxia, Autosomal Recessive 2 Spinocerebellar Ataxia, Autosomal Recessive 20 Spinocerebellar Ataxia, Autosomal Recessive 21 Spinocerebellar Ataxia, Autosomal Recessive 22 Spinocerebellar Ataxia, Autosomal Recessive 23 Spinocerebellar Ataxia, Autosomal Recessive 24 Spinocerebellar Ataxia, Autosomal Recessive 25 Spinocerebellar Ataxia, Autosomal Recessive 26 Spinocerebellar Ataxia, Autosomal Recessive 3 Spinocerebellar Ataxia, Autosomal Recessive 4 Spinocerebellar Ataxia Autosomal Recessive 5 Spinocerebellar Ataxia, Autosomal Recessive 6 Spinocerebellar Ataxia, Autosomal Recessive 7 Spinocerebellar Ataxia, Autosomal Recessive 8 Spinocerebellar Ataxia Type 16 Spinocerebellar Ataxia Type 19/22 Splenogonadal Fusion with Limb Defects and Micrognathia Split-Foot Deformity with Mandibulofacial Dysostosis Split-Foot Malformation with Mesoaxial Polydactyly Split Hand-Foot Malformation Split-Hand/foot Malformation 1 Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss, Autosomal Recessive Split-Hand/foot Malformation 2 Split-Hand/foot Malformation 3 Split-Hand/foot Malformation 4 Split-Hand/foot Malformation 5 Split-Hand/foot Malformation 6 Split Hand-Split Foot Malformation Split Hand Split Foot Malformation Autosomal Recessive Split-Hand with Congenital Nystagmus, Fundal Changes, and Cataracts Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects Spondylocamptodactyly Spondylocarpotarsal Synostosis Syndrome Spondylocostal Dysostosis 1 Spondylocostal Dysostosis 1, Autosomal Recessive Spondylocostal Dysostosis 2 Spondylocostal Dysostosis 2, Autosomal Recessive Spondylocostal Dysostosis 3 Spondylocostal Dysostosis 3, Autosomal Recessive Spondylocostal Dysostosis 4 Spondylocostal Dysostosis 4, Autosomal Recessive Spondylocostal Dysostosis 5 Spondylocostal Dysostosis 6, Autosomal Recessive Spondylocostal Dysostosis, Autosomal Recessive Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies Spondylodysplastic Ehlers-Danlos Syndrome Spondyloepimetaphyseal Dysplasia, Aggrecan Type Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type Spondyloepimetaphyseal Dysplasia, Genevieve Type Spondyloepimetaphyseal Dysplasia, Irapa Type Spondyloepimetaphyseal Dysplasia, Isidor Type Spondyloepimetaphyseal Dysplasia Joint Laxity Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related Spondyloepimetaphyseal Dysplasia, Missouri Type Spondyloepimetaphyseal Dysplasia, Shohat Type Spondyloepimetaphyseal Dysplasia, Sponastrime Type Spondyloepimetaphyseal Dysplasia, Strudwick Type Spondyloepimetaphyseal Dysplasia with Abnormal Dentition Spondyloepimetaphyseal Dysplasia with Hypotrichosis Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 Spondyloepimetaphyseal Dysplasia, X-Linked Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental Deterioration Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech Spondyloepiphyseal Dysplasia Congenita Spondyloepiphyseal Dysplasia, Kimberley Type Spondyloepiphyseal Dysplasia, Maroteaux Type Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness Spondyloepiphyseal Dysplasia, Stanescu Type Spondyloepiphyseal Dysplasia Tarda with Mental Retardation Spondyloepiphyseal Dysplasia with Atlantoaxial Instability Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation Spondylo-Megaepiphyseal-Metaphyseal Dysplasia Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type Spondylometaphyseal Dysplasia, Algerian Type Spondylometaphyseal Dysplasia, Axial Spondylometaphyseal Dysplasia, Corner Fracture Type Spondylometaphyseal Dysplasia, Czarny-Ratajczak Type Spondylometaphyseal Dysplasia, Kozlowski Type Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type Spondylometaphyseal Dysplasia, Sedaghatian Type Spondylometaphyseal Dysplasia, Type A4 Spondylometaphyseal Dysplasia with Bowed Forearms and Facial Dysmorphism Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy Spondylometaphyseal Dysplasia with Dentinogenesis Imperfecta Spondylometaphyseal Dysplasia, X-Linked Spondyloocular Syndrome Spondyloperipheral Dysplasia Sporadic Fetal Brain Disruption Sequence Stapes Ankylosis with Broad Thumbs and Toes Steatocystoma Multiplex with Natal Teeth Steel Syndrome Steinfeld Syndrome Stenosis or Atresia of the Coronary Ostium Steroid Dehydrogenase Deficiency Dental Anomalies Stickler Syndrome Stickler Syndrome, Type 3 Stickler Syndrome, Type I Stickler Syndrome, Type Ii Stickler Syndrome, Type Iv Stickler Syndrome, Type V Straddling and/or Overriding Mitral Valve Straddling or Overriding Tricuspid Valve Stratton-Parker Syndrome Stromme Syndrome Sturge-Weber Syndrome Stuve-Wiedemann Syndrome Subaortic Course of Innominate Vein Subaortic Stenosis, Membranous Subcortical Band Heterotopia Sub-Cortical Nodular Heterotopia Subependymal Nodular Heterotopia Submucosal Cleft Palate Subpulmonary Stenosis Sudden Infant Death with Dysgenesis of the Testes Syndrome Sugarman Brachydactyly Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency Sulfite Oxidase Deficiency, Isolated Summitt Syndrome Supernumerary Nostril Supratip Dysplasia Supravalvular Aortic Stenosis Symphalangism, Distal Symphalangism, Proximal, 1a Symphalangism, Proximal, 1b Symphalangism with Multiple Anomalies of Hands and Feet Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction Syndactyly-Polydactyly-Earlobe Syndrome Syndactyly Type 6 Syndactyly, Type Iii Syndactyly, Type Iv Syndactyly, Type V Syndromic Sensorineural Deafness Due to Combined Oxidative Phosphorylation Defect Syndromic X-Linked Intellectual Disability Syndromic X-Linked Intellectual Disability 12 Syndromic X-Linked Intellectual Disability 14 Syndromic X-Linked Intellectual Disability 7 Syndromic X-Linked Intellectual Disability Type 10 Syngnathia Syngnathia Cleft Palate Syngnathia Multiple Anomalies Synpolydactyly Synpolydactyly 1 Synpolydactyly 2 Synpolydactyly 3 Syringomyelia Tabatznik Syndrome Takenouchi-Kosaki Syndrome Talo-Patello-Scaphoid Osteolysis, Synovitis, and Short Fourth Metacarpals Tarp Syndrome Tarsal-Carpal Coalition Syndrome Tatton-Brown-Rahman Syndrome Teebi-Shaltout Syndrome Teeth, Congenital Absence of, with Taurodontia and Sparse Hair Teeth, Noneruption of, with Maxillary Hypoplasia and Genu Valgum Telangiectasia, Hereditary Hemorrhagic, Type 1 Telangiectasia, Hereditary Hemorrhagic, Type 2 Telangiectasia, Hereditary Hemorrhagic, Type 3 Telangiectasia, Hereditary Hemorrhagic, Type 4 Telangiectasia, Hereditary Hemorrhagic, Type 5 Temple-Baraitser Syndrome Temple Syndrome Temtamy Preaxial Brachydactyly Syndrome Temtamy Syndrome Tendons, Extensor, of Fingers, Anomalous Insertion of Teratocarcinoma Terminal Osseous Dysplasia Tessier Number 5 Facial Cleft Tessier Number 6 Facial Cleft Testicular Germ Cell Tumor Testicular Germ Cell Tumor 1 Testicular Monophasic Choriocarcinoma Testicular Regression Syndrome Tethered Cord Syndrome Tetraamelia Syndrome, Autosomal Recessive Tetragametic Chimerism Tetralogy of Fallot Tetralogy of Fallot Syndrome, Autosomal Recessive Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and Other Abnormalities Tetramelic Monodactyly Tetraploidy Tetrasomy 15q26 Tetrasomy 18p Tetrasomy 21 Tetrasomy 5p Tetrasomy 9p Tetrasomy X Thanatophoric Dysplasia, Type I Thanatophoric Dysplasia, Type Ii Thiamine-Responsive Megaloblastic Anemia Syndrome Thin Ribs-Tubular Bones-Dysmorphism Syndrome Third Branchial Cleft Anomaly Thoracic Dysplasia-Hydrocephalus Syndrome Thoraco Abdominal Enteric Duplication Thoracoabdominal Syndrome Thoracolaryngopelvic Dysplasia Thoracolumbosacral Spina Bifida Aperta Thoracolumbosacral Spina Bifida Cystica Thoracomelic Dysplasia Thrombocythemia with Distal Limb Defects Thrombocytopenia-Absent Radius Syndrome Thrombocytopenia, Paris-Trousseau Type Thrombocytopenia Robin Sequence Thumb Deformity and Alopecia Thumb, Hypoplastic, with Choroid Coloboma, Poorly Developed Antihelix, and Deafness Thumbs, Stiff, with Brachydactyly Type A1 and Developmental Delay Thymic Aplasia with Fetal Death Thymic-Renal-Anal-Lung Dysplasia Thyrocerebroretinal Syndrome Thyroglossal Duct Cyst, Familial Thyroid Hormone Resistance, Generalized, Autosomal Dominant Thyroid Hormone Resistance, Generalized, Autosomal Recessive Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies Tibia, Hypoplasia or Aplasia of, with Polydactyly Tibial Aplasia-Ectrodactyly Syndrome Tibial Hemimelia Tibial Hemimelia, Bilateral Tibial Hemimelia, Unilateral Tibio-Fibular Synostosis Tietz Albinism-Deafness Syndrome Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia Total Anomalous Pulmonary Venous Return 1 Total Spina Bifida Aperta Total Spina Bifida Cystica Townes-Brocks Syndrome Townes-Brocks Syndrome 1 Townes-Brocks Syndrome 2 Toxoplasmoză Tracheal Agenesis Tracheobronchial Stenosis, Congenital Tracheoesophageal Fistula with or Without Esophageal Atresia Tracheomalacia Transient Bullous Dermolysis of the Newborn Transient Neonatal Myasthenia Gravis Transient Neonatal Neutropenia Transient Neonatal Thrombocytopenia Transposition of the Great Arteries, Dextro-Looped 1 Transposition of the Great Arteries, Dextro-Looped 3 Transverse Vaginal Septum Treacher Collins Syndrome 1 Treacher Collins Syndrome 2 Treacher Collins Syndrome 3 Trichodental Dysplasia Trichodentoosseous Syndrome Trichodysplasia-Amelogenesis Imperfecta Syndrome Trichoodontoonychial Dysplasia with Bone Deficiency Trichorhinophalangeal Syndrome Trichorhinophalangeal Syndrome Type 1 and 3 Trichorhinophalangeal Syndrome, Type I Trichorhinophalangeal Syndrome, Type Ii Trichorhinophalangeal Syndrome, Type Iii Tricuspid Atresia Tricuspid Valve Agenesis Tricuspid Valve Prolapse Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet Trigonocephaly-Broad Thumbs Syndrome Trigonocephaly with Short Stature and Developmental Delay Triphalangeal Thumbs and Dislocation of Patella Triphalangeal Thumbs with Brachyectrodactyly Triple X Syndrome Triploidy Trisomy 18-Like Syndrome Trisomy 1q Trisomy 22 Trisomy 2 Mosaicism Trochlea of the Humerus, Aplasia of True Unicornuate Uterus Tuberous Sclerosis Tuberous Sclerosis 1 Tuberous Sclerosis 2 Tubular Duplication of the Esophagus Tubulinopathy-Associated Dysgyria Tumoral Calcinosis, Hyperphosphatemic, Familial Tunglang Savage Bellman Syndrome Tunnel Subaortic Stenosis Turner Syndrome Turner Syndrome Due to Structural X Chromosome Anomalies Twin-to-Twin Transfusion Syndrome Type I Ehlers-Danlos Syndrome Tyshchenko Syndrome Ulna and Fibula, Absence of, with Severe Limb Deficiency Ulna and Fibula, Hypoplasia of Ulna Metaphyseal Dysplasia Syndrome Ulnar/fibular Ray Defect and Brachydactyly Ulnar Hemimelia Ulnar Hemimelia, Bilateral Ulnar Hemimelia, Unilateral Ulnar Hypoplasia Ulnar Hypoplasia with Lobster-Claw Deformity of Feet Ulnar Hypoplasia with Mental Retardation Ulnar-Mammary Syndrome Umbilical Cord Ulceration and Intestinal Atresia Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly Undifferentiated Embryonal Sarcoma of the Liver Unilateral Congenital Megacalycosis Unilateral Focal Polymicrogyria Unilateral Hemispheric Polymicrogyria Unilateral Multicystic Dysplastic Kidney Unilateral Polymicrogyria Uniparental Disomy of Chromosome 11 Uniparental Disomy of Chromosome 2 Univentricular Heart Univentricular Heart with Single Atrio-Ventricular Valve Upington Disease Upper Limb Hypertrophy Upper Thoracic Spina Bifida Aperta Upper Thoracic Spina Bifida Cystica Urachal Cyst Urachal Diverticulum Urachal Sinus Urofacial Syndrome 1 Urofacial Syndrome 2 Usher Syndrome Usher Syndrome Type 2 Usher Syndrome, Type 2b Usher Syndrome, Type I Usher Syndrome, Type Ic Usher Syndrome, Type Id Usher Syndrome, Type if Usher Syndrome, Type Ig Usher Syndrome, Type Ih Usher Syndrome, Type Iia Usher Syndrome, Type Iic Usher Syndrome, Type Iid Usher Syndrome, Type Iiia Usher Syndrome, Type Iiib Usher Syndrome, Type Ij Usher Syndrome, Type Ik Uterine Cervical Aplasia and Agenesis Uterine Corpus Choriocarcinoma Uterine Hypoplasia Uterus Bicornis Bicollis with Partial Vaginal Septum and Unilateral Hematocolpos with Ipsilateral Renal Agenesis Uvula, Bifid Vacterl with Hydrocephalus Vaginal Atresia Valproate Embryopathy Van Benthem-Driessen-Hanveld Syndrome Van Buchem Disease Van Den Ende-Gupta Syndrome Van Der Woude Syndrome 1 Van Maldergem Syndrome 1 Varicella, Severe Recurrent Vascular Malformation, Primary Intraosseous Vas Deferens, Congenital Bilateral Aplasia of Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency Vater/vacterl Association Vein of Galen Aneurysm Velocardiofacial Syndrome Velofacioskeletal Syndrome Venous Malformations, Multiple Cutaneous and Mucosal Ventricular Extrasystoles with Syncope, Perodactyly, and Robin Sequence Ventriculomegaly with Cystic Kidney Disease Verrucous Hemangioma Vertebral Fusion, Posterior Lumbosacral, with Blepharoptosis Vertical Talus, Congenital Vesicoureteral Reflux 1 Vesicoureteral Reflux 2 Vesicoureteral Reflux 3 Vesicoureteral Reflux 4 Vesicoureteral Reflux 5 Vesicoureteral Reflux 6 Vesicoureteral Reflux 7 Vesicoureteral Reflux 8 Vici Syndrome Viljoen Kallis Voges Syndrome Visceral Heterotaxy Visceral Myopathy Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome Vitamin a Embryopathy Vitamin D-Dependent Rickets, Type 2a Vohwinkel Syndrome Vohwinkel Syndrome, Variant Form Volvulus of Midgut Von Hippel-Lindau Syndrome Vulvar Childhood Botryoid-Type Embryonal Rhabdomyosarcoma Waardenburg's Syndrome Waardenburg Syndrome, Type 1 Waardenburg Syndrome, Type 2a Waardenburg Syndrome, Type 2b Waardenburg Syndrome, Type 2c Waardenburg Syndrome, Type 2d Waardenburg Syndrome, Type 2e Waardenburg Syndrome, Type 3 Waardenburg Syndrome Type 4 Waardenburg Syndrome, Type 4a Waardenburg Syndrome, Type 4b Waardenburg Syndrome, Type 4c Wahab Syndrome Walker-Warburg Syndrome Warfarin Syndrome Warsaw Breakage Syndrome Weaver Syndrome Webster Deming Syndrome Weill-Marchesani-Like Syndrome Weill-Marchesani Syndrome Weill-Marchesani Syndrome 1 Weill-Marchesani Syndrome 2 Weill-Marchesani Syndrome 3 Weismann-Netter Syndrome Well-Differentiated Fetal Adenocarcinoma of the Lung Werner Syndrome Weyers Acrofacial Dysostosis White Forelock with Malformations White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome White-Sutton Syndrome Wieacker-Wolff Syndrome Wiedemann-Steiner Syndrome Wildervanck Syndrome Williams-Beuren Region Duplication Syndrome Williams-Beuren Syndrome Wilms Tumor 1 Wilms Tumor 2 Wilms Tumor 3 Wilms Tumor 4 Wilms Tumor 5 Wilms Tumor 6 Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome Wilson-Mikity Syndrome Wilson-Turner X-Linked Mental Retardation Syndrome Witkop Syndrome Witteveen-Kolk Syndrome Wolff Mental Retardation Syndrome Wolfram-Like Syndrome, Autosomal Dominant Wolfram Syndrome Wolfram Syndrome 1 Wolfram Syndrome 2 Woods Syndrome Wrinkly Skin Syndrome Wyburn Mason's Syndrome Xeroderma Pigmentosum, Type 2 Xeroderma Pigmentosum, Type 9 Xeroderma Pigmentosum, Variant Type Xk Aprosencephaly X-Linked Charcot-Marie-Tooth Disease X-Linked Chondrodysplasia Punctata X-Linked Complicated Spastic Paraplegia Type 1 X-Linked Diffuse Leiomyomatosis-Alport Syndrome X-Linked Intellectual Disability - Corpus Callosum Agenesis - Spastic Quadriparesis X-Linked Intellectual Disability-Epilepsy-Progressive Joint Contractures-Dysmorphism Syndrome X-Linked Intellectual Disability, Golabi-Ito-Hall Type X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome X-Linked Intellectual Disability, Pai Type X-Linked Intellectual Disability, Porteous Type X-Linked Intellectual Disability, Shashi Type X-Linked Intellectual Disability, Siderius Type X-Linked Intellectual Disability, Stevenson Type X-Linked Intellectual Disability, Stoll Type X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic Cup-to-Disc Ratio Syndrome Xp22.13p22.2 Duplication Syndrome Xq12-Q13.3 Duplication Syndrome X Small Rings Xylt1-Cdg Yellow Nail Syndrome Yemenite Deaf-Blind Hypopigmentation Syndrome You-Hoover-Fong Syndrome Yuan-Harel-Lupski Syndrome Yunis-Varon Syndrome Zechi-Ceide Syndrome Zimmermann-Laband Syndrome Zimmermann-Laband Syndrome 1 Zimmermann-Laband Syndrome 2 Zygodactyly 1 Zygodactyly Type 2 Zygodactyly Type 3 Zygodactyly Type 4