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Hamel cerebro-palato-cardiac syndrome
ORPHA:93946 · Clinical subtype · Subtype of disorder
HPO 表現型（共 14 項）
Very frequent (99-80%)(14)
- ArachnodactylyHP:0001166
- Atrial septal defectHP:0001631
- Bulbous noseHP:0000414
- Cleft palateHP:0000175
- Cupped earHP:0000378
- Death in infancyHP:0001522
- Global developmental delayHP:0001263
- Intellectual disabilityHP:0001249
- Malar flatteningHP:0000272
- MicrocephalyHP:0000252
- MicrognathiaHP:0000347
- Narrow mouthHP:0000160
- Short statureHP:0004322
- Wide nasal bridgeHP:0000431