Details of Disease | DrugMAP

General Information of Disease (ID: DIS945F9)

Disease Name	Intellectual disability, X-linked, syndromic 33
Synonyms	intellectual developmental disorder, X-linked syndromic 33, X-linked recessive; intellectual disability, X-linked, syndromic type 33; intellectual disability, X-linked, syndromic 33; TAF1 X-linked syndromic intellectual disability; X-linked syndromic intellectual disability caused by mutation in TAF1; mental retardation, X-linked, syndromic 33; MRXS33; mental retardation, X-linked, syndromic type 33
Definition	Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the TAF1 gene.
Disease Hierarchy	DISG1YOH: X-linked syndromic intellectual disability DIS945F9: Intellectual disability, X-linked, syndromic 33
Disease Identifiers	MONDO ID MONDO_0010500 UMLS CUI C4225418 OMIM ID 300966 MedGen ID 895979 SNOMED CT ID 1237420004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TAF1	OTDYS5G4	Definitive	X-linked	[1]
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References

1	TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations. Am J Hum Genet. 2015 Dec 3;97(6):922-32. doi: 10.1016/j.ajhg.2015.11.005.