Details of Disease

General Information of Disease (ID: DISAL3A7)

Disease Name Neurodevelopmental disorder with seizures and brain atrophy
Synonyms NEDSEBA
Disease Hierarchy
DISYOKTG: Mendelian neurodevelopmental disorder
DISAL3A7: Neurodevelopmental disorder with seizures and brain atrophy
Disease Identifiers
MONDO ID
MONDO_0033658
UMLS CUI
C5436732
OMIM ID
619072
MedGen ID
1748227

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
EXOC7 OT4YA137 Strong Autosomal recessive [1]
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References

1 Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival. Genet Med. 2020 Jun;22(6):1040-1050. doi: 10.1038/s41436-020-0758-9. Epub 2020 Feb 27.