Details of Disease

General Information of Disease (ID: DISDI5NR)

Disease Name Neurodevelopmental disorder with speech impairment and dysmorphic facies
Synonyms NEDSID
Disease Hierarchy
DISYOKTG: Mendelian neurodevelopmental disorder
DISDI5NR: Neurodevelopmental disorder with speech impairment and dysmorphic facies
Disease Identifiers
MONDO ID
MONDO_0033630
UMLS CUI
C5436699
OMIM ID
619056
MedGen ID
1758434

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
SETD1A OTVVWRIC Strong Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders. Nat Neurosci. 2016 Apr;19(4):571-7. doi: 10.1038/nn.4267. Epub 2016 Mar 14.