Details of Disease | DrugMAP

General Information of Disease (ID: DIS96IY2)

Disease Name	Neurodevelopmental disorder with hypotonia and dysmorphic facies
Disease Hierarchy	DIS372XH: Neurodevelopmental disorder DIS96IY2: Neurodevelopmental disorder with hypotonia and dysmorphic facies
Disease Identifiers	MONDO ID MONDO_0859185 UMLS CUI C5561974 OMIM ID 619503 MedGen ID 1794184

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
GNB2	OT3JPRCQ	Strong	Autosomal dominant	[1]
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References

1	Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features. Eur J Med Genet. 2020 Apr;63(4):103804. doi: 10.1016/j.ejmg.2019.103804. Epub 2019 Nov 4.