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KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome

ORPHA:457193 · Malformation syndrome · Disorder

HPO 表現型（共 39 項）

Very frequent (99-80%)(10)

  • Abnormal facial shapeHP:0001999
  • Broad nasal tipHP:0000455
  • Global developmental delayHP:0001263
  • MicrocephalyHP:0000252
  • Narrow foreheadHP:0000341
  • Neonatal hypotoniaHP:0001319
  • Poor speechHP:0002465
  • Prominent nasal bridgeHP:0000426
  • Severe intellectual disabilityHP:0010864
  • Thin upper lip vermilionHP:0000219

Frequent (79-30%)(19)

  • Atrial septal defectHP:0001631
  • Cerebral visual impairmentHP:0100704
  • CraniosynostosisHP:0001363
  • Downturned corners of mouthHP:0002714
  • EpicanthusHP:0000286
  • Feeding difficultiesHP:0011968
  • Gastroesophageal refluxHP:0002020
  • Growth delayHP:0001510
  • MicroretrognathiaHP:0000308
  • Muscle stiffnessHP:0003552
  • Neonatal respiratory distressHP:0002643
  • Patent ductus arteriosusHP:0001643
  • PlagiocephalyHP:0001357
  • Posteriorly rotated earsHP:0000358
  • PtosisHP:0000508
  • SeizureHP:0001250
  • Short statureHP:0004322
  • StrabismusHP:0000486
  • Ventricular septal defectHP:0001629

Occasional (29-5%)(10)

  • BrachydactylyHP:0001156
  • Cleft palateHP:0000175
  • CryptorchidismHP:0000028
  • DystoniaHP:0001332
  • HydronephrosisHP:0000126
  • Intestinal malrotationHP:0002566
  • Lacrimal duct stenosisHP:0007678
  • LaryngomalaciaHP:0001601
  • Optic atrophyHP:0000648
  • Preauricular pitHP:0004467