OBO ID: DOID:0050942
Term Name: spastic ataxia 3 Search Ontology:
Synonyms:
Definition: A spastic ataxia that is characterized by cerebellar ataxia, spasticity, hyperreflexia, urinary urgency and dysarthria, has_material_basis_in homozygous or compound heterozygous complex genomic rearrangements involving the MARS2 gene on chromosome 2q33. (2)
References:
Ontology: Human Disease   (DOID:0050942)
OTHER spastic ataxia 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MARS2 Spastic ataxia 3, autosomal recessive 611390
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None