OMIM

ARX-related mental retardation is a form of nonsyndromic X-linked mental retardation. It is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from lissencephaly (LISX2; 300215) to Proud syndrome (300004) to infantile spasms without brain malformations (EIEE1; 308350) to Partington syndrome (309510) (Kato et al., 2004; Wallerstein et al., 2008). (300419)

MalaCards based summary

Mental Retardation, X-Linked, with or Without Seizures, Arx-Related, is also known as mental retardation, x-linked 29 and others, and has symptoms including periorbital fullness, long palpebral fissure and intellectual disability. An important gene associated with Mental Retardation, X-Linked, with or Without Seizures, Arx-Related is ARX (Aristaless Related Homeobox). Affiliated tissues include brain.

UniProtKB/Swiss-Prot

Mental retardation, X-linked, ARX-related: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations.