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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:0003124 | Hypercholesterolemia |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002070 | Limb ataxia |
| HP:0000590 | Progressive external ophthalmoplegia |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0001268 | Mental deterioration |
| HP:0003693 | Distal amyotrophy |
| HP:0001332 | Dystonia |
| HP:0000764 | Peripheral axonal degeneration |
| HP:0002650 | Scoliosis |
