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Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
ORPHA:504476 · Disease · Disorder
HPO 表現型（共 16 項）
Frequent (79-30%)(16)
- AreflexiaHP:0001284
- Babinski signHP:0003487
- Delayed speech and language developmentHP:0000750
- Demyelinating peripheral neuropathyHP:0007108
- Distal muscle weaknessHP:0002460
- DysarthriaHP:0001260
- DysdiadochokinesisHP:0002075
- DysmetriaHP:0001310
- Gait ataxiaHP:0002066
- Intention tremorHP:0002080
- Multiple joint contracturesHP:0002828
- Optic atrophyHP:0000648
- Progressive cerebellar ataxiaHP:0002073
- Sensorimotor neuropathyHP:0007141
- Sensorineural hearing impairmentHP:0000407
- Vestibular areflexiaHP:0008568