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(HPO:0001250) | Seizures | 1245 / 7739 | ||||
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(HPO:0001251) | Ataxia | 413 / 7739 | ||||
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(HPO:0001257) | Spasticity | 251 / 7739 | ||||
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(HPO:0002180) | Neurodegeneration | 31 / 7739 | ||||
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(HPO:0003131) | Cystinuria | 6 / 7739 | ||||
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(HPO:0003297) | Hyperlysinuria | 10 / 7739 | ||||
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(OMIM) | Progressive cortical degeneration | 1 / 7739 | ||||
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(OMIM) | 1,5-diaminopentanuria | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |