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X-linked spinocerebellar ataxia type 3
ORPHA:85297 · Malformation syndrome · Disorder
HPO 表現型(共 6 項)
Very frequent (99-80%)(6)
- AtaxiaHP:0001251
- EsotropiaHP:0000565
- Global developmental delayHP:0001263
- HypotoniaHP:0001252
- Optic atrophyHP:0000648
- Sensorineural hearing impairmentHP:0000407