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Achondrogenesis type 2
ORPHA:93296 · Clinical subtype · Subtype of disorder
HPO 表現型（共 25 項）
Very frequent (99-80%)(2)
- Abnormal bone ossificationHP:0011849
- Short long boneHP:0003026
Frequent (79-30%)(16)
- Abnormality of the eyeHP:0000478
- Absent vertebral body mineralizationHP:0004605
- Delayed proximal femoral epiphyseal ossificationHP:0008828
- Delayed pubic bone ossificationHP:0008788
- Delayed vertebral ossificationHP:0031096
- EdemaHP:0000969
- Hypoplastic iliaHP:0000946
- MicromeliaHP:0002983
- Midface retrusionHP:0011800
- Narrow chestHP:0000774
- Pierre-Robin sequenceHP:0000201
- Pulmonary hypoplasiaHP:0002089
- Short ribsHP:0000773
- Short statureHP:0004322
- Skeletal dysplasiaHP:0002652
- Unossified sacrumHP:0030290
Occasional (29-5%)(7)
- Abnormal vitreous humor morphologyHP:0004327
- Cardiorespiratory arrestHP:0006543
- CataractHP:0000518
- Hearing impairmentHP:0000365
- Lens subluxationHP:0001132
- MyopiaHP:0000545
- Retinal detachmentHP:0000541