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Nume Other specified congenital malformation syndromes, not elsewhere classified
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Boli A-Z 3mc Syndrome 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs Aase-Smith Syndrome I Abidi X-Linked Mental Retardation Syndrome Abruzzo-Erickson Syndrome Absent Eyebrows and Eyelashes with Mental Retardation Acrofrontofacionasal Dysostosis 2 Acropectororenal Dysplasia Acrorenal-Mandibular Syndrome Agnathia-Otocephaly Complex Albinism-Microcephaly-Digital Anomalies Syndrome Al Gazali Aziz Salem Syndrome Alopecia-Contractures-Dwarfism Mental Retardation Syndrome Alopecia-Intellectual Disability Syndrome Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental Subnormality Alport Syndrome, Autosomal Dominant Alport Syndrome, Autosomal Recessive Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome Alport Syndrome, X-Linked Aniridia and Absent Patella Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome Anonychia, Total, with Microcephaly Anophthalmia Megalocornea Cardiopathy Skeletal Anomalies Aortic Arch Anomaly with Peculiar Facies and Mental Retardation Aphalangy with Hemivertebrae Aplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome Arachnodactyly - Intellectual Disability - Dysmorphism Aredyld Armfield X-Linked Mental Retardation Syndrome Arterial Dissection with Lentiginosis Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay Arthrogryposis, Mental Retardation, and Seizures Athabaskan Brainstem Dysgenesis Syndrome Atkin-Flaitz Syndrome Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome Axial Mesodermal Dysplasia Spectrum Bannayan-Riley-Ruvalcaba Syndrome Bardet-Biedl Syndrome Basal Cell Nevus Syndrome Beare-Stevenson Cutis Gyrata Syndrome Beemer Lethal Malformation Syndrome Bifid Nose with or Without Anorectal and Renal Anomalies Birk-Barel Mental Retardation Dysmorphism Syndrome Blepharocheilodontic Syndrome 1 Blepharophimosis with Ptosis, Syndactyly, and Short Stature Bohring-Opitz Syndrome Borjeson-Forssman-Lehmann Syndrome Bowen-Conradi Syndrome Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome Brachydactyly-Nystagmus-Cerebellar Ataxia Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome Branchiootorenal Syndrome Brooks-Wisniewski-Brown Syndrome Cahmr Syndrome Campomelia, Cumming Type Cardiofaciocutaneous Syndrome 1 Cataract, Aberrant Oral Frenula, and Growth Retardation Cataract-Deafness-Hypogonadism Syndrome Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia Catel-Manzke Syndrome Cat Eye Syndrome Caudal Duplication Anomaly Cerebellar Hypoplasia with Endosteal Sclerosis Cerebral-Cerebellar-Coloboma Syndrome, X-Linked Cerebrocostomandibular Syndrome Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula Char Syndrome Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia Chops Syndrome Christianson Syndrome Cleft-Limb-Heart Malformation Syndrome Cleft Lip/palate-Deafness-Sacral Lipoma Syndrome 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 Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly Cleft Palate, Deafness, and Oligodontia Cockayne Syndrome Type I Cockayne Syndrome Type Ii Cockayne Syndrome Type Iii Codas Syndrome Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome Coloboma of Macula and Skeletal Anomalies Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome Congenital Cataracts, Facial Dysmorphism, and Neuropathy Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects Corneal Hypesthesia with Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, and Mental Retardation Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome Corpus Callosum, Agenesis of, with Abnormal Genitalia Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia Costello Syndrome Craniofacioskeletal Syndrome Craniostenosis, Sagittal, with Congenital Heart Disease, Mental Deficiency, and Mandibular Ankylosis Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome Crome Syndrome Cryptomicrotia-Brachydactyly Syndrome Cubitus Valgus with Mental Retardation and Unusual Facies Culler-Jones Syndrome Cutis Laxa, Autosomal Recessive, Type Iiia Cutis Laxa, Autosomal Recessive, Type Iiib Cyprus Facial Neuromusculoskeletal Syndrome Daentl Towsend Siegel Syndrome Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy Dandy-Walker Malformation with Postaxial Polydactyly Deafness, Congenital, with Onychodystrophy, Autosomal Dominant Deafness, Congenital, with Vitiligo and Achalasia Deafness, Dystonia, and Cerebral Hypomyelination Deafness-Genital Anomalies-Metacarpal and Metatarsal Synostosis Syndrome Deafness Nephritis Anorectal Malformation De Barsy Syndrome Dermato-Cardio-Skeletal Syndrome, Borrone Type Desmosterolosis Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects of Skull Dk Phocomelia Syndrome Donnai-Barrow Syndrome Duane-Radial Ray Syndrome Dysmorphism-Short Stature-Deafness-Disorder of Sex Development Syndrome Dystonia, Juvenile-Onset Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome Endocrine-Cerebroosteodysplasia Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders Facial Dysmorphism with Multiple Malformations Faciocardiomelic Dysplasia, Lethal Faciocardiorenal Syndrome Faciodigitogenital Syndrome, Autosomal Recessive Fallot Complex with Severe Mental and Growth Retardation Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome Feingold Syndrome 1 Feingold Syndrome 2 Femoral-Facial Syndrome Fibuloulnar Aplasia or Hypoplasia with Renal Abnormalities Filippi Syndrome Floating-Harbor Syndrome Flynn-Aird Syndrome Fountain Syndrome Frank-Ter Haar Syndrome Fryns Macrocephaly Fryns Microphthalmia Syndrome Fryns Syndrome Gapo Syndrome Genitopalatocardiac Syndrome Genitopatellar Syndrome German Syndrome Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome Gms Syndrome Goiter, Multinodular, Cystic Renal Disease, and Digital Anomalies Goldberg-Shprintzen Syndrome Grange Syndrome Growth Retardation, Developmental Delay, and Facial Dysmorphism Growth Retardation, Small and Puffy Hands and Feet, and Eczema Guizar Vasquez Sanchez Manzano Syndrome Hadziselimovic Syndrome Hall-Riggs Mental Retardation Syndrome Hand and Foot Deformity with Flat Facies Harrod Syndrome Hartsfield Syndrome Hennekam Syndrome Hernández-Aguirre Negrete Syndrome Hirsutism, Skeletal Dysplasia, and Mental Retardation Holzgreve Syndrome Hydrocephalus, Endocardial Fibroelastosis, and Cataracts Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia Hydrocephalus, Tall Stature, Joint Laxity, and Kyphoscoliosis Hydrolethalus Syndrome 1 Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome Hypomelanosis of Ito Hypomelia with Mullerian Duct Anomalies Hypoparathyroidism, Sensorineural Deafness, and Renal Disease Hypospadias-Mental Retardation Syndrome Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome Ichthyosis, Hepatosplenomegaly, and Cerebellar Degeneration Ifap Syndrome with or Without Bresheck Syndrome Illum Syndrome Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome Intellectual Disability-Short Stature-Hypertelorism Syndrome Intractable Diarrhea-Choanal Atresia-Eye Anomalies Syndrome Isotretinoin Embryopathy-Like Syndrome Jackson-Weiss Syndrome Johanson-Blizzard Syndrome Johnson Neuroectodermal Syndrome Kapur-Toriello Syndrome Kbg Syndrome Keutel Syndrome Kleefstra Syndrome 1 Kleefstra Syndrome Due to a Point Mutation Lacrimoauriculodentodigital Syndrome Lambert Syndrome Lathosterolosis Laurence-Moon Syndrome Limb-Body Wall Complex Lowry-Maclean Syndrome Lubs X-Linked Mental Retardation Syndrome Lung Agenesis, Congenital Heart Defects, and Thumb Anomalies Syndrome Lymphedema, Cardiac Septal Defects, and Characteristic Facies Lymphedema-Hypoparathyroidism Syndrome Macdermot-Winter Syndrome Manitoba Oculotrichoanal Syndrome Marfanoid Habitus with Microcephaly and Glomerulonephritis Marfanoid Mental Retardation Syndrome, Autosomal Martsolf Syndrome Mcdonough Syndrome Mckusick-Kaufman Syndrome Meacham Syndrome Megalocornea-Mental Retardation Syndrome Mehmo Syndrome Mend Syndrome Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects Mental Retardation, Autosomal Dominant 18 Mental Retardation, Autosomal Dominant 21 Mental Retardation, Autosomal Recessive 35 Mental Retardation, Autosomal Recessive 39 Mental Retardation, Autosomal Recessive 40 Mental Retardation, Buenos Aires Type Mental Retardation, Microcephaly, Epilepsy, and Coarse Face Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies Mental Retardation Syndrome, Belgian Type Mental Retardation Syndrome, Mietens-Weber Type Mental Retardation, X-Linked 98 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, Nascimento Type Mental Retardation, X-Linked, Syndromic, Turner Type Microcephaly-Capillary Malformation Syndrome Microcephaly-Cardiomyopathy Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs Microcephaly-Deafness Syndrome Microcephaly-Digital Anomalies-Intellectual Disability Syndrome Microcephaly Microcornea Syndrome Seemanova Type Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome Microcephaly with Cervical Spine Fusion Anomalies Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia Microgastria-Limb Reduction Defects Association Microphthalmia, Syndromic 3 Microphthalmia, Syndromic 8 Miles-Carpenter Syndrome Mullerian Duct Aplasia, Unilateral Renal Agenesis, and Cervicothoracic Somite Anomalies 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 Myhre Syndrome Myotonia with Skeletal Abnormalities and Mental Retardation Nathalie Syndrome Naxos Disease Nephropathy, Deafness, and Hyperparathyroidism Nephrosis with Deafness and Urinary Tract and Digital Malformations Netherton Syndrome Neu-Laxova Syndrome 1 Neurofaciodigitorenal Syndrome Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome Nijmegen Breakage Syndrome Oculoauricular Syndrome Oculocerebrocutaneous Syndrome Oculodentodigital Dysplasia Okihiro Syndrome Due to 20q13 Microdeletion Okihiro Syndrome Due to a Point Mutation Olivopontocerebellar Atrophy Omphalocele-Cleft Palate Syndrome, Lethal Ophthalmomandibulomelic Dysplasia Opitz-Gbbb Syndrome Opitz Gbbb Syndrome, Type I Opitz Gbbb Syndrome, Type Ii Opitz-Kaveggia Syndrome Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome Pagod Syndrome Pallister W Syndrome Parc Syndrome Perrault Syndrome Pettigrew Syndrome Phaver Syndrome Pierre Robin Sequence with Facial and Digital Anomalies Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome Polysyndactyly with Cardiac Malformation Polyvalvular Heart Disease Syndrome Porencephaly, Cerebellar Hypoplasia, and Internal Malformations Prader-Willi Habitus, Osteopenia, and Camptodactyly Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome Progressive Non-Infectious Anterior Vertebral Fusion Pseudo-Torch Syndrome 1 Pseudotrisomy 13 Syndrome Pterygia, Mental Retardation, and Distinctive Craniofacial Features Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia Ramon Syndrome Renal Dysplasia-Limb Defects Syndrome Renal, Genital, and Middle Ear Anomalies Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism Richieri-Costa/guion-Almeida Syndrome Ritscher-Schinzel Syndrome Ritscher-Schinzel Syndrome 1 Robin Sequence with Cleft Mandible and Limb Anomalies Rodrigues Blindness Roifman-Chitayat Syndrome Rutherfurd Syndrome Ruvalcaba Syndrome Sacral Meningocele Conotruncal Heart Defects Say Syndrome Schimke X-Linked Mental Retardation Syndrome Schisis Association Scholte Syndrome Seaver Cassidy Syndrome Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome Sonoda Syndrome Spinocerebellar Ataxia, Autosomal Recessive 20 Splenogonadal Fusion with Limb Defects and Micrognathia Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies Stapes Ankylosis with Broad Thumbs and Toes Steinfeld Syndrome Stocco Dos Santos X-Linked Mental Retardation Syndrome Stromme Syndrome Syndromic X-Linked Intellectual Disability 12 Syndromic X-Linked Intellectual Disability 14 Syndromic X-Linked Intellectual Disability 7 Syndromic X-Linked Intellectual Disability Abidi Type Syndromic X-Linked Intellectual Disability Cabezas Type Syndromic X-Linked Intellectual Disability Nascimento Type Syndromic X-Linked Intellectual Disability Raymond Type Syndromic X-Linked Intellectual Disability Shashi Type Syndromic X-Linked Intellectual Disability Siderius Type Syndromic X-Linked Intellectual Disability Snyder Type Syndromic X-Linked Intellectual Disability Turner Type Syngnathia Tarp Syndrome Temtamy Syndrome Tetraamelia Syndrome, Autosomal Recessive Thoracic Dysplasia-Hydrocephalus Syndrome Thumb, Hypoplastic, with Choroid Coloboma, Poorly Developed Antihelix, and Deafness Thymic-Renal-Anal-Lung Dysplasia Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia Townes-Brocks Syndrome Trichorhinophalangeal Syndrome, Type Ii Tyshchenko Syndrome Vacterl with Hydrocephalus Van Benthem-Driessen-Hanveld Syndrome Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency Ventricular Extrasystoles with Syncope, Perodactyly, and Robin Sequence Vici Syndrome Viljoen Kallis Voges Syndrome Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome Weaver Syndrome Webster Deming Syndrome White Forelock with Malformations Wieacker-Wolff Syndrome Wildervanck Syndrome Williams-Beuren Syndrome Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome Woods Syndrome Xia-Gibbs Syndrome X-Linked Diffuse Leiomyomatosis-Alport Syndrome X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome X-Linked Intellectual Disability, Cilliers Type X-Linked Intellectual Disability - Corpus Callosum Agenesis - Spastic Quadriparesis X-Linked Intellectual Disability-Epilepsy-Progressive Joint Contractures-Dysmorphism Syndrome X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome X-Linked Intellectual Disability, Pai Type X-Linked Intellectual Disability-Precocious Puberty-Obesity Syndrome X-Linked Intellectual Disability, Seemanova 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 Intellectual Disability, Van Esch Type Yunis-Varon Syndrome Zechi-Ceide Syndrome Zellweger-Like Syndrome Without Peroxisomal Anomalies Zimmermann-Laband Syndrome