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Cleft palate-short stature-vertebral anomalies syndrome
ORPHA:2015 · Malformation syndrome · Disorder
HPO 表現型(共 11 項)
Frequent (79-30%)(11)
- Abnormal vertebral morphologyHP:0003468
- Anteverted naresHP:0000463
- Cleft palateHP:0000175
- EpicanthusHP:0000286
- Intellectual disabilityHP:0001249
- MicrognathiaHP:0000347
- Posteriorly rotated earsHP:0000358
- Short neckHP:0000470
- Short noseHP:0003196
- Short statureHP:0004322
- Thin upper lip vermilionHP:0000219