Details of Disease

General Information of Disease (ID: DIS03X0H)

Disease Name Cerebellar atrophy, visual impairment, and psychomotor retardation;
Synonyms CAVIPMR; cerebellar atrophy, visual impairment, and psychomotor retardation
Disease Hierarchy
DIS09FBL: Complex neurodevelopmental disorder with motor features
DISYOKTG: Mendelian neurodevelopmental disorder
DIS03X0H: Cerebellar atrophy, visual impairment, and psychomotor retardation;
Disease Identifiers
MONDO ID
MONDO_0014811
UMLS CUI
C4225172
OMIM ID
616875
MedGen ID
905041

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
EMC1 OTYAH4LX Strong Autosomal recessive [1]
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References

1 Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. Genome Res. 2013 Feb;23(2):236-47. doi: 10.1101/gr.144105.112. Epub 2012 Oct 26.