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(HPO:0000252) | Microcephaly | 832 / 7739 | ||||
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(HPO:0001264) | Spastic diplegia | 24 / 7739 | ||||
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(HPO:0002123) | Generalized myoclonic seizures | 62 / 7739 | ||||
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(HPO:0006955) | Olivopontocerebellar hypoplasia | 3 / 7739 | ||||
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(OMIM) | Hypoplasia of cerebellum, inferior olives and pons | 1 / 7739 | ||||
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(OMIM) | Absent abdominal reflexes | 1 / 7739 | ||||
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(OMIM) | Variable elevated spinal fluid amino acids | 1 / 7739 | ||||
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(HPO:0001417) | X-linked inheritance | 173 / 7739 |