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Histidinuria-renal tubular defect syndrome
ORPHA:2158 · Disease · Disorder
HPO 表現型（共 14 項）
Very frequent (99-80%)(14)
- Cerebral cortical atrophyHP:0002120
- Delayed skeletal maturationHP:0002750
- HistidinuriaHP:0002927
- HypoglycemiaHP:0001943
- Hypoplastic toenailsHP:0001800
- Impaired histidine renal tubular absorptionHP:0008666
- Intellectual disabilityHP:0001249
- Long philtrumHP:0000343
- MacrotiaHP:0000400
- Rounded middle phalanx of fingerHP:0005844
- Sensorineural hearing impairmentHP:0000407
- Short middle phalanx of fingerHP:0005819
- VentriculomegalyHP:0002119
- Wide nasal bridgeHP:0000431