Details of Disease

General Information of Disease (ID: DISMF0HN)

Disease Name Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia
Synonyms NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
Disease Hierarchy
DISYOKTG: Mendelian neurodevelopmental disorder
DISMF0HN: Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia
Disease Identifiers
MONDO ID
MONDO_0032878
UMLS CUI
C5231471
OMIM ID
618718
MedGen ID
1684663

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
NTNG2 OTTY88DL Strong Autosomal recessive [1]
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References

1 Homozygous frameshift variant in NTNG2, encoding a synaptic cell adhesion molecule, in individuals with developmental delay, hypotonia, and autistic features. Neurogenetics. 2019 Oct;20(4):209-213. doi: 10.1007/s10048-019-00583-4. Epub 2019 Aug 2.