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
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
Your Input Welcome
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if
additional information is required.
Oops. Something went wrong. Please try again later.