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Holoprosencephaly-craniosynostosis syndrome
ORPHA:2163 · Malformation syndrome · Disorder
HPO 表現型（共 21 項）
Very frequent (99-80%)(21)
- Abnormal retinal pigmentationHP:0007703
- BrachycephalyHP:0000248
- BrachydactylyHP:0001156
- Clinodactyly of the 5th fingerHP:0004209
- Cognitive impairmentHP:0100543
- Coxa valgaHP:0002673
- CraniosynostosisHP:0001363
- Delayed skeletal maturationHP:0002750
- EpicanthusHP:0000286
- Facial asymmetryHP:0000324
- HoloprosencephalyHP:0001360
- Hypoplastic vertebral bodiesHP:0008479
- HypotelorismHP:0000601
- HypotoniaHP:0001252
- MicrocephalyHP:0000252
- PlagiocephalyHP:0001357
- Short distal phalanx of fingerHP:0009882
- Short palpebral fissureHP:0012745
- Short statureHP:0004322
- StrabismusHP:0000486
- Upslanted palpebral fissureHP:0000582