Details of Disease

General Information of Disease (ID: DISWGLAN)

Disease Name Neurodevelopmental disorder with midbrain and hindbrain malformations
Synonyms NEDMHM; neurodevelopmental disorder with midbrain and hindbrain malformations
Disease Hierarchy
DISYOKTG: Mendelian neurodevelopmental disorder
DISWGLAN: Neurodevelopmental disorder with midbrain and hindbrain malformations
Disease Identifiers
MONDO ID
MONDO_0056797
UMLS CUI
C4479613
OMIM ID
617523
MedGen ID
1385580

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
ARHGEF2 OTBQTFRT Limited Autosomal recessive [1]
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References

1 Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation. PLoS Genet. 2017 Apr 28;13(4):e1006746. doi: 10.1371/journal.pgen.1006746. eCollection 2017 Apr.