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intellectual disability, X-linked 101

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the MID2 gene.
Uniprot Description 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. MRX101 clinical features include global developmental delay, hyperactivity often with aggressive outbursts, and seizures in some patients. Several affected individuals have long face, prominent ears, and squint or strabismus.
Mondo Term and Equivalent IDs
MONDO:0010489:  intellectual disability, X-linked 101
UMLS:C3890168: