Details of Disease

General Information of Disease (ID: DIS4UICB)

Disease Name Chilton-Okur-Chung neurodevelopmental syndrome
Disease Hierarchy
DIS372XH: Neurodevelopmental disorder
DIS4UICB: Chilton-Okur-Chung neurodevelopmental syndrome
Disease Identifiers
MONDO ID
MONDO_0859239
UMLS CUI
C5677022
OMIM ID
619841
MedGen ID
1803276

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
CDC42BPB OTO6NT7Q Strong Autosomal dominant [1]
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References

1 De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype. Am J Med Genet A. 2020 May;182(5):962-973. doi: 10.1002/ajmg.a.61505. Epub 2020 Feb 7.