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Adrenomyodystrophy
ORPHA:977 · Disease · Disorder
HPO 表現型（共 16 項）
Very frequent (99-80%)(10)
- Abnormal intestine morphologyHP:0002242
- Abnormality of the urinary systemHP:0000079
- EMG abnormalityHP:0003457
- Failure to thriveHP:0001508
- HypotoniaHP:0001252
- MegacystisHP:0000021
- MegalocorneaHP:0000485
- MyopathyHP:0003198
- Primary adrenal insufficiencyHP:0008207
- Severe global developmental delayHP:0011344
Frequent (79-30%)(6)
- Delayed skeletal maturationHP:0002750
- Generalized hyperpigmentationHP:0007440
- Hepatic steatosisHP:0001397
- Reduced bone mineral densityHP:0004349
- SeizureHP:0001250
- Short statureHP:0004322