ZFIN Human Disease: spastic ataxia 2

OBO ID: DOID:0050941

Term Name:	spastic ataxia 2		Search Ontology:
Synonyms:
Definition:	A spastic ataxia that is characterized by cerebellar ataxia, spasticity and peripheral neuropathy in the first two decades of life, has_material_basis_in homozygous mutation in the KIF1C gene on chromosome 17p13. https://www.ncbi.nlm.nih.gov/pubmed/17273843
References:	OMIM:611302
Ontology:	Human Disease ( DOID:0050941 )

Relationships

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

OTHER spastic ataxia 2 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
KIF1C	kif1cb kif1ca	Spastic ataxia 2, autosomal recessive	611302

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None