ataxia with oculomotor apraxia type 1

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Echinobase

Summary

Literature (0)

DOID:0050754 - ataxia with oculomotor apraxia type 1

Disease Ontology Definition:An autosomal recessive cerebellar ataxia that is characterized by progressive cerebellar ataxia including oculomotor apraxia, severe neuropathy and hypoalbuminemia, has_material_basis_in autosomal recessive inheritance of mutation in the APTX gene.

Synonyms:

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: aptx

MIM:

MIM:208920 - ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia; eaoh

MIM:208920 - ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia; eaoh

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive cerebellar ataxia (is_a)