Details of Disease

General Information of Disease (ID: DIS2DJ29)

Disease Name Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
Synonyms
NEDASB; NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES; neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
Disease Hierarchy
DISYOKTG: Mendelian neurodevelopmental disorder
DIS2DJ29: Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
Disease Identifiers
MONDO ID
MONDO_0030024
UMLS CUI
C5394311
OMIM ID
618859
MedGen ID
1714862

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
NOVA2 OTQ2X3Q4 Strong Autosomal dominant [1]
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References

1 Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing. Eur J Hum Genet. 2019 Oct;27(10):1519-1531. doi: 10.1038/s41431-019-0442-1. Epub 2019 Jun 23.