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Brain dopamine-serotonin vesicular transport disease
ORPHA:352649 · Disease · Disorder
HPO 表現型（共 31 項）
Very frequent (99-80%)(31)
- Abnormal foot morphologyHP:0001760
- Abnormality of coordinationHP:0011443
- Abnormality of eye movementHP:0000496
- Abnormality of the vasculatureHP:0002597
- AtaxiaHP:0001251
- Axial hypotoniaHP:0008936
- Cognitive impairmentHP:0100543
- DysarthriaHP:0001260
- DysdiadochokinesisHP:0002075
- DystoniaHP:0001332
- FatigueHP:0012378
- Gait disturbanceHP:0001288
- Generalized hypotoniaHP:0001290
- Global developmental delayHP:0001263
- HyperhidrosisHP:0000975
- Hypernasal speechHP:0001611
- HypertoniaHP:0001276
- Hypomimic faceHP:0000338
- Inappropriate cryingHP:0030215
- Limb dystoniaHP:0002451
- Oculogyric crisisHP:0010553
- Orofacial dyskinesiaHP:0002310
- ParkinsonismHP:0001300
- Poor head controlHP:0002421
- PtosisHP:0000508
- Secondary microcephalyHP:0005484
- Shuffling gaitHP:0002362
- Sleep disturbanceHP:0002360
- Spastic tetraparesisHP:0001285
- StridorHP:0010307
- TremorHP:0001337