Details of Disease

General Information of Disease (ID: DISK8R72)

Disease Name Ataxia, intention tremor, and hypotonia syndrome, childhood-onset
Disease Hierarchy
DISYKSRF: Genetic disease
DISK8R72: Ataxia, intention tremor, and hypotonia syndrome, childhood-onset
Disease Identifiers
MONDO ID
MONDO_0859158
UMLS CUI
C5543478
OMIM ID
619352
MedGen ID
1787902

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
POU4F1 OTMHYGWQ Strong Autosomal dominant [1]
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References

1 Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor. Hum Mutat. 2021 Jun;42(6):685-693. doi: 10.1002/humu.24201. Epub 2021 Apr 15.