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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:0003387 | Decreased number of large peripheral myelinated nerve fibers |
| HP:0001272 | Cerebellar atrophy |
| HP:0000571 | Hypometric saccades |
| HP:0002505 | Loss of ambulation |
| HP:0000726 | Dementia |
| HP:0003621 | Juvenile onset |
| HP:0001324 | Muscle weakness |
| HP:0100543 | Cognitive impairment |
| HP:0002066 | Gait ataxia |
| HP:0001265 | Hyporeflexia |
