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Echinobase
Summary Literature (0)
DOID:0050943 - spastic ataxia 4

Disease Ontology Definition:A spastic ataxia that is characterized by cerebellar ataxia, spasticity, dysarthria and optic atrophy, has_material_basis_in homozygous mutation in the MTPAP gene on chromosome 10p11.

Synonyms:

Echinobase Genes : mtpap


MIM:
MIM:613672 - spastic ataxia 4, autosomal recessive; spax4

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

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