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Contractures-ectodermal dysplasia-cleft lip/palate syndrome
ORPHA:1484 · Malformation syndrome · Disorder
HPO 表現型（共 8 項）
Very frequent (99-80%)(8)
- Arthrogryposis multiplex congenitaHP:0002804
- Cleft palateHP:0000175
- Cognitive impairmentHP:0100543
- Global developmental delayHP:0001263
- HypohidrosisHP:0000966
- Lacrimation abnormalityHP:0000632
- Limitation of joint mobilityHP:0001376
- Non-midline cleft of the upper lipHP:0100335