Details of Disease

General Information of Disease (ID: DIS3O56R)

Disease Name Cerebellar ataxia, brain abnormalities, and cardiac conduction defects
Synonyms neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome
Disease Hierarchy
DISYKSRF: Genetic disease
DIS3O56R: Cerebellar ataxia, brain abnormalities, and cardiac conduction defects
Disease Identifiers
MONDO ID
MONDO_0859200
UMLS CUI
C5562005
OMIM ID
619576
MedGen ID
1794215

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
EXOSC5 OTADUQ7H Strong Autosomal recessive [1]
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References

1 Genetics of intellectual disability in consanguineous families. Mol Psychiatry. 2019 Jul;24(7):1027-1039. doi: 10.1038/s41380-017-0012-2. Epub 2018 Jan 4.