Details of Disease

General Information of Disease (ID: DISRTTRZ)

Disease Name Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy
Synonyms NEDMISB
Disease Hierarchy
DISYOKTG: Mendelian neurodevelopmental disorder
DISRTTRZ: Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy
Disease Identifiers
MONDO ID
MONDO_0033662
UMLS CUI
C5436747
OMIM ID
619076
MedGen ID
1755716

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
EXOC8 OTI3ZT7D Strong Autosomal recessive [1]
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References

1 High-throughput discovery of novel developmental phenotypes. Nature. 2016 Sep 22;537(7621):508-514. doi: 10.1038/nature19356. Epub 2016 Sep 14.