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(HPO:0000750) | Delayed speech and language development | 197 / 7739 | ||||
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(HPO:0001288) | Gait disturbance | 318 / 7739 | ||||
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(HPO:0001332) | Dystonia | 197 / 7739 | ||||
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(HPO:0001347) | Hyperreflexia | 363 / 7739 | ||||
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(HPO:0002072) | Chorea | 53 / 7739 | ||||
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(HPO:0003307) | Hyperlordosis | 122 / 7739 | ||||
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(OMIM) | Muscle biopsy with small A-fibers, increased PAS-positive material, and ringbinden (disoriented myofibrils) | 1 / 7739 | ||||
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(OMIM) | Chorea of hands | 1 / 7739 | ||||
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(OMIM) | EEG with focal discharge | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0003621) | Juvenile onset | 105 / 7739 | ||||
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(HPO:0011463) | Childhood onset | 65 / 7739 |