Details of Disease

General Information of Disease (ID: DIS7ISB5)

Disease Name Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
Disease Hierarchy
DIS372XH: Neurodevelopmental disorder
DIS7ISB5: Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
Disease Identifiers
MONDO ID
MONDO_0859152
UMLS CUI
C5543427
OMIM ID
619333
MedGen ID
1781936

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
GEMIN5 OTSF03K2 Strong Autosomal recessive [1]
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References

1 Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder. Nat Commun. 2021 May 7;12(1):2558. doi: 10.1038/s41467-021-22627-w.