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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0000252) | Microcephaly | rare [HPO:skoehler] | 832 / 7739 | |||
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(HPO:0000639) | Nystagmus | rare [HPO:skoehler] | 555 / 7739 | |||
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(HPO:0001263) | Global developmental delay | 853 / 7739 | ||||
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(HPO:0001337) | Tremor | 200 / 7739 | ||||
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(HPO:0001878) | Hemolytic anemia | rare [HPO:skoehler] | 83 / 7739 | |||
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(HPO:0002063) | Rigidity | 92 / 7739 | ||||
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(HPO:0002371) | Loss of speech | 15 / 7739 | ||||
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(HPO:0002376) | Developmental regression | rare [HPO:skoehler] | 74 / 7739 | |||
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(HPO:0002415) | Leukodystrophy | rare [HPO:skoehler] | 30 / 7739 | |||
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(HPO:0002514) | Cerebral calcification | rare [HPO:skoehler] | 89 / 7739 | |||
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(HPO:0006957) | Loss of ability to walk | 7 / 7739 |