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Echinobase
Summary Literature (0)
DOID:0050772 - spastic ataxia 1

Disease Ontology Definition:A spastic ataxia characterized by early-onset cerebellar ataxia, spasticity, pyramidal syndrome and peripheral neuropathy, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the VAMP1 gene on chromosome 12p13.

Synonyms:

Echinobase Genes :


OMIM:
MIM:108600 - spastic ataxia 1, autosomal dominant; spax1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), spastic ataxia (is_a)