Details of Disease

General Information of Disease (ID: DIS2M0VZ)

Disease Name Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities
Disease Hierarchy
DIS372XH: Neurodevelopmental disorder
DIS2M0VZ: Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities
Disease Identifiers
MONDO ID
MONDO_0859243
UMLS CUI
C5676975
OMIM ID
619854
MedGen ID
1812577

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
GNAI1 OTE0KX9F Strong Autosomal dominant [1]
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References

1 Prevalence and architecture of de novo mutations in developmental disorders. Nature. 2017 Feb 23;542(7642):433-438. doi: 10.1038/nature21062. Epub 2017 Jan 25.