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intellectual disability, X-linked 19

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 RPS6KA3 gene.
Uniprot Description A non-syndromic form of mild to moderate mental retardation. Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. In contrast to syndromic or specific X-linked mental retardation which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation.
Mondo Term and Equivalent IDs
MONDO:0010447:  intellectual disability, X-linked 19
MESH:C563141: 
UMLS:C0796225: