Details of Disease

General Information of Disease (ID: DISO1F6U)

Disease Name Intellectual disability, X-linked, syndromic, Bain type
Synonyms
mental retardation, X-linked, syndromic, Bain type; intellectual disability, X-linked, syndromic, Bain type; intellectual developmental disorder, X-linked, syndromic, Bain type, X-linked dominant; MRXSB
Disease Hierarchy
DISG1YOH: X-linked syndromic intellectual disability
DISO1F6U: Intellectual disability, X-linked, syndromic, Bain type
Disease Identifiers
MONDO ID
MONDO_0010512
UMLS CUI
C4310814
OMIM ID
300986
MedGen ID
934781

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
HNRNPH2 OTMGP4J7 Strong X-linked [1]
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References

1 Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females. Am J Hum Genet. 2016 Sep 1;99(3):728-734. doi: 10.1016/j.ajhg.2016.06.028. Epub 2016 Aug 18.