You are using an outdated browser. Please upgrade your browser to improve your experience.

intellectual disability, X-linked 30

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the PAK3 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.
Mondo Term and Equivalent IDs
MONDO:0010361:  intellectual disability, X-linked 30
UMLS:C0796237: