OBO ID: DOID:0050998
Term Name: nonprogressive cerebellar ataxia with mental retardation Search Ontology:
Synonyms:
Definition: An autosomal dominant cerebellar ataxia that is characterized by early onset of nonprogressive cerebellar ataxia, developmental delay, intellectual impairment and cerebellar atrophy, and has_material_basis_in autosomal dominant inheritance of mutation in the CAMTA1 gene. https://www.omim.org/entry/614756
References:
Ontology: Human Disease   (DOID:0050998)
OTHER nonprogressive cerebellar ataxia with mental retardation PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CAMTA1 Cerebellar ataxia, nonprogressive, with mental retardation 614756
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None