ZFIN Human Disease: spastic ataxia 5

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:	OMIM:614487
Ontology:	Human Disease ( DOID:0050944 )

Relationships

is a type of:	autosomal recessive disease spastic ataxia autosomal recessive disease spastic ataxia Show first 5 Terms

OTHER spastic ataxia 5 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
AFG3L2	afg3l2	Spastic ataxia 5, autosomal recessive	614487

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None