OBO ID: DOID:0050986
Term Name: spinocerebellar ataxia type 40 Search Ontology:
Synonyms:
Definition: An autosomal dominant cerebellar ataxia that is characterized by progressive gait abnormalities, dysarthria, tremor and hyporeflexia, has_material_basis_in mutation in the CCDC88C gene. https://www.omim.org/entry/616053
References:
Ontology: Human Disease   ( DOID:0050986 )
OTHER spinocerebellar ataxia type 40 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CCDC88C ?Spinocerebellar ataxia 40 616053
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None