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Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
ORPHA:313772 · Disease · Disorder
HPO 表現型（共 24 項）
Frequent (79-30%)(24)
- Abnormal mitochondria in muscle tissueHP:0008316
- AtaxiaHP:0001251
- Bilateral tonic-clonic seizureHP:0002069
- Cerebellar atrophyHP:0001272
- Cerebellar hypoplasiaHP:0001321
- Demyelinating peripheral neuropathyHP:0007108
- Distal amyotrophyHP:0003693
- Distal muscle weaknessHP:0002460
- DysdiadochokinesisHP:0002075
- DysmetriaHP:0001310
- DysphagiaHP:0002015
- DystoniaHP:0001332
- EEG abnormalityHP:0002353
- Generalized myoclonic seizureHP:0002123
- Lower limb muscle weaknessHP:0007340
- Mild intellectual disabilityHP:0001256
- MyoclonusHP:0001336
- Oculomotor apraxiaHP:0000657
- Peripheral axonal neuropathyHP:0003477
- PtosisHP:0000508
- Sensorimotor neuropathyHP:0007141
- Spastic dysarthriaHP:0002464
- Spastic paraparesisHP:0002313
- SpasticityHP:0001257