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(HPO:0012062) | Bone cyst | Frequent [Orphanet] | 19 / 7739 | |||
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(HPO:0000843) | Hyperparathyroidism | Frequent [Orphanet] | 17 / 7739 | |||
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(HPO:0000083) | Renal insufficiency | Frequent [Orphanet] | 232 / 7739 | |||
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(HPO:0000093) | Proteinuria | Frequent [Orphanet] | 169 / 7739 | |||
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(HPO:0000407) | Sensorineural hearing impairment | Very frequent [Orphanet] | 524 / 7739 | |||
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(HPO:0001903) | Anemia | Occasional [Orphanet] | 289 / 7739 | |||
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(HPO:0003072) | Hypercalcemia | Frequent [Orphanet] | 36 / 7739 | |||
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(HPO:0100820) | Glomerulopathy | Frequent [Orphanet] | 46 / 7739 | |||
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(HPO:0000112) | Nephropathy | 92 / 7739 | ||||
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(HPO:0008208) | Parathyroid hyperplasia | 3 / 7739 | ||||
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(OMIM) | No hematuria | 2 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |