| Term Name: | early-onset ataxia with oculomotor apraxia and hypoalbuminemia |
|---|---|
| Synonyms: | ataxia with oculomotor apraxia type 1 |
| 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. |
| Ontology: | Human Disease [DOID:0050754] ( DOID:0050754 ) |