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(HPO:0000096) | Glomerulosclerosis | 11 / 7739 | ||||
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(HPO:0000112) | Nephropathy | 92 / 7739 | ||||
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(HPO:0000546) | Retinal degeneration | 61 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0001264) | Spastic diplegia | 24 / 7739 | ||||
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(HPO:0001266) | Choreoathetosis | 57 / 7739 | ||||
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(HPO:0001939) | Abnormality of metabolism/homeostasis | 328 / 7739 | ||||
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(OMIM) | Retinal vessel loss | 1 / 7739 | ||||
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(OMIM) | Absent cerebellar granular layer | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |