Details of Disease | DrugMAP

General Information of Disease (ID: DIS4BX24)

Disease Name	Intellectual disability, X-linked, syndromic, Houge type
Synonyms	syndromic X-linked intellectual disability Hough type; mental retardation, X-linked, syndromic, HOUGE type; mental retardation, X-linked, syndromic, Houge type; syndromic X-linked mental retardation Hough type; intellectual disability, X-linked, syndromic, HOUGE type; MRXSHG; intellectual developmental disorder, X-linked, syndromic, Houge type; intellectual disability, X-linked, syndromic, Houge type
Disease Hierarchy	DISG1YOH: X-linked syndromic intellectual disability DIS4BX24: Intellectual disability, X-linked, syndromic, Houge type
Disease Identifiers	MONDO ID MONDO_0030909 UMLS CUI C4538788 OMIM ID 301008 MedGen ID 1624740

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
CNKSR2	OTAGERJ2	Strong	X-linked	[1]
------------------------------------------------------------------------------------

References

1	Loss-of-Function CNKSR2 Mutation Is a Likely Cause of Non-Syndromic X-Linked Intellectual Disability. Mol Syndromol. 2012 Jan;2(2):60-63. doi: 10.1159/000335159. Epub 2011 Dec 20.