ataxia with oculomotor apraxia type 1

Term ID

DOID:0050754

Synonyms

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. https://rarediseases.info.nih.gov/diseases/9283/ataxia-oculomotor-apraxia-type-1

References

• GARD:9283
• OMIM:208920

Ontology

Human Disease   ( DOID:0050754 )