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(HPO:0000083) | Renal insufficiency | 232 / 7739 | ||||
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(HPO:0000100) | Nephrotic syndrome | 83 / 7739 | ||||
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(HPO:0000639) | Nystagmus | 555 / 7739 | ||||
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(HPO:0000648) | Optic atrophy | 238 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0001967) | Diffuse mesangial sclerosis | 11 / 7739 | ||||
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(HPO:0008043) | Retinal arteriolar constriction | 5 / 7739 | ||||
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(OMIM) | Absent foveal reflex (in some patients) | 2 / 7739 | ||||
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(OMIM) | Abnormal macula | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |