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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:0001251 | Ataxia |
| HP:0009830 | Peripheral neuropathy |
| HP:0000707 | Abnormality of the nervous system |
| HP:0010747 | Medial flaring of the eyebrow |
| HP:0001288 | Gait disturbance |
| HP:0001337 | Tremor |
| HP:0006886 | Impaired distal vibration sensation |
| HP:0002936 | Distal sensory impairment |
| HP:0000640 | Gaze-evoked nystagmus |
| HP:0002072 | Chorea |
