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intellectual disability, X-linked, syndromic 33

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the TAF1 gene.
Uniprot Description A mental retardation syndrome characterized by intellectual deficit, delayed psychomotor development, delayed speech and language, and characteristic facial features. Mental retardation is defined by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
Mondo Term and Equivalent IDs
MONDO:0010500:  intellectual disability, X-linked, syndromic 33
UMLS:C4225418: