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(HPO:0001276) | Hypertonia | Very frequent [Orphanet] | 317 / 7739 | |||
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(HPO:0001288) | Gait disturbance | Very frequent [Orphanet] | 318 / 7739 | |||
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(HPO:0001608) | Abnormality of the voice | Frequent [Orphanet] | 126 / 7739 | |||
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(HPO:0100022) | Abnormality of movement | Very frequent [Orphanet] | 129 / 7739 | |||
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(HPO:0003011) | Abnormality of the musculature | Very frequent [Orphanet] | 47 / 7739 | |||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(HPO:0000473) | Torticollis | 42 / 7739 | ||||
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(HPO:0000643) | Blepharospasm | 20 / 7739 | ||||
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(HPO:0001252) | Muscular hypotonia | 990 / 7739 | ||||
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(HPO:0001260) | Dysarthria | 329 / 7739 | ||||
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(HPO:0001304) | Torsion dystonia | 13 / 7739 | ||||
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(HPO:0001337) | Tremor | 200 / 7739 | ||||
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(HPO:0002356) | Writer's cramp | 16 / 7739 | ||||
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(HPO:0002533) | Abnormal posturing | 6 / 7739 | ||||
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(HPO:0002650) | Scoliosis | 705 / 7739 | ||||
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(HPO:0002808) | Kyphosis | 289 / 7739 | ||||
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(HPO:0003307) | Hyperlordosis | 122 / 7739 | ||||
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(HPO:0003829) | Incomplete penetrance | 30 % [HPO:skoehler] | 85 / 7739 |