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Hypotonia-cystinuria syndrome
ORPHA:163690 · Disease · Disorder
HPO 表現型（共 14 項）
Very frequent (99-80%)(10)
- CystinuriaHP:0003131
- Decreased fetal movementHP:0001558
- DolichocephalyHP:0000268
- Failure to thriveHP:0001508
- Growth delayHP:0001510
- Hypernasal speechHP:0001611
- HypotoniaHP:0001252
- Kidney stoneHP:0000787
- PolyphagiaHP:0002591
- PtosisHP:0000508
Frequent (79-30%)(4)
- EpicanthusHP:0000286
- FatigueHP:0012378
- Frontal bossingHP:0002007
- RetrognathiaHP:0000278