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Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion

ORPHA:261190 · Clinical subtype · Subtype of disorder

HPO 表現型（共 28 項）

Very frequent (99-80%)(5)

  • Cleft palateHP:0000175
  • Delayed speech and language developmentHP:0000750
  • Global developmental delayHP:0001263
  • Intellectual disabilityHP:0001249
  • Short statureHP:0004322

Frequent (79-30%)(7)

  • Biparietal narrowingHP:0004422
  • Deeply set eyeHP:0000490
  • MicrocephalyHP:0000252
  • Narrow foreheadHP:0000341
  • Pointed chinHP:0000307
  • Short philtrumHP:0000322
  • Smooth philtrumHP:0000319

Occasional (29-5%)(16)

  • Abnormality of the dentitionHP:0000164
  • AcneHP:0001061
  • Atrial septal defectHP:0001631
  • AutismHP:0000717
  • Convex nasal ridgeHP:0000444
  • ImmunodeficiencyHP:0002721
  • Inguinal herniaHP:0000023
  • KyphosisHP:0002808
  • LaryngomalaciaHP:0001601
  • Long faceHP:0000276
  • Long philtrumHP:0000343
  • Low-set earsHP:0000369
  • Prominent nasal bridgeHP:0000426
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • Ventricular septal defectHP:0001629