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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0001250) | Seizures | 1245 / 7739 | ||||
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(HPO:0001257) | Spasticity | 251 / 7739 | ||||
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(HPO:0002059) | Cerebral atrophy | 171 / 7739 | ||||
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(HPO:0003217) | Hyperglutaminemia | 9 / 7739 | ||||
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(HPO:0008936) | Muscular hypotonia of the trunk | 77 / 7739 | ||||
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(HPO:0011451) | Congenital microcephaly | 6 / 7739 | ||||
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(HPO:0012448) | Delayed myelination | 51 / 7739 |