Details of Disease

General Information of Disease (ID: DISOKUGK)

Disease Name Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements
Synonyms NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM
Disease Hierarchy
DISYOKTG: Mendelian neurodevelopmental disorder
DISOKUGK: Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements
Disease Identifiers
MONDO ID
MONDO_0032900
UMLS CUI
C5231491
OMIM ID
618760
MedGen ID
1684874

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
VAMP2 OTZOQ2ZM Strong Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment. Am J Hum Genet. 2019 Apr 4;104(4):721-730. doi: 10.1016/j.ajhg.2019.02.016. Epub 2019 Mar 28.