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ataxia with oculomotor apraxia type 1
Summary
- 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.
- Super Class
- autosomal recessive cerebellar ataxia
External Links
- Disease Ontology
- DOID:0050754
- Mondo Disease Ontology
- OMIM
- GARD
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0011463 | Childhood onset |
| HP:0001761 | Pes cavus |
| HP:0001260 | Dysarthria |
| HP:0003073 | Hypoalbuminemia |
| HP:0000657 | Oculomotor apraxia |
| HP:0002078 | Truncal ataxia |
| HP:0003581 | Adult onset |
| HP:0001284 | Areflexia |
