Details of Disease

General Information of Disease (ID: DISF3SNU)

Disease Name Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects
Disease Hierarchy
DIS372XH: Neurodevelopmental disorder
DISF3SNU: Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects
Disease Identifiers
MONDO ID
MONDO_0859301
UMLS CUI
C5774235
OMIM ID
620083
MedGen ID
1824008

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
HNRNPH1 OTFRWOLM Strong Autosomal dominant [1]
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References

1 Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardation. Clin Genet. 2018 Oct;94(3-4):381-385. doi: 10.1111/cge.13410. Epub 2018 Aug 2.