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Mevalonic aciduria
ORPHA:29 · Clinical subtype · Subtype of disorder
HPO 表現型（共 17 項）
Very frequent (99-80%)(13)
- Cerebral cortical atrophyHP:0002120
- Delayed skeletal maturationHP:0002750
- DolichocephalyHP:0000268
- Downslanted palpebral fissuresHP:0000494
- Global developmental delayHP:0001263
- HypotoniaHP:0001252
- Intellectual disabilityHP:0001249
- Large fontanellesHP:0000239
- MicrocephalyHP:0000252
- SeizureHP:0001250
- Short statureHP:0004322
- SplenomegalyHP:0001744
- Triangular faceHP:0000325
Frequent (79-30%)(4)
- AtaxiaHP:0001251
- Blue scleraeHP:0000592
- CataractHP:0000518
- Posteriorly rotated earsHP:0000358