OBO ID: DOID:0050944
Term Name: spastic ataxia 5 Search Ontology:
Synonyms:
Definition: A spastic ataxia that is characterized by early onset of cerebellar ataxia, spasticity, oculomotor apraxia, dystonia and myoclonic epilepsy, has_material_basis_in homozygous mutation in the AFG3L2 gene on chromosome 18p11. (2)
References:
Ontology: Human Disease   (DOID:0050944)
OTHER spastic ataxia 5 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
AFG3L2 Spastic ataxia 5, autosomal recessive 614487
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None