← 返回搜尋
Osteoporosis-oculocutaneous hypopigmentation syndrome
ORPHA:2786 · Malformation syndrome · Disorder
HPO 表現型（共 12 項）
Very frequent (99-80%)(12)
- Abnormal retinal morphologyHP:0000479
- AlbinismHP:0001022
- Hypopigmentation of hairHP:0005599
- Hypopigmentation of the skinHP:0001010
- KyphosisHP:0002808
- MyopiaHP:0000545
- NystagmusHP:0000639
- OsteoporosisHP:0000939
- PallorHP:0000980
- PlatyspondylyHP:0000926
- Short statureHP:0004322
- Visual impairmentHP:0000505