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STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome

ORPHA:502434 · Malformation syndrome · Disorder

HPO 表現型（共 38 項）

Very frequent (99-80%)(3)

  • Deeply set eyeHP:0000490
  • Global developmental delayHP:0001263
  • Intellectual disabilityHP:0001249

Frequent (79-30%)(8)

  • Autistic behaviorHP:0000729
  • CryptorchidismHP:0000028
  • Feeding difficultiesHP:0011968
  • Gastroesophageal refluxHP:0002020
  • Prominent nasal bridgeHP:0000426
  • SeizureHP:0001250
  • Thin eyebrowHP:0045074
  • Wide mouthHP:0000154

Occasional (29-5%)(27)

  • 2-3 toe syndactylyHP:0004691
  • Abnormal facial shapeHP:0001999
  • Abnormality of the upper limbHP:0002817
  • Brain atrophyHP:0012444
  • Clinodactyly of the 5th fingerHP:0004209
  • Cutis marmorataHP:0000965
  • Epileptic encephalopathyHP:0200134
  • Failure to thriveHP:0001508
  • High palateHP:0000218
  • Horseshoe kidneyHP:0000085
  • Hypoplastic male external genitaliaHP:0000050
  • HypotoniaHP:0001252
  • Intrauterine growth retardationHP:0001511
  • Joint hypermobilityHP:0001382
  • Limited elbow extensionHP:0001377
  • Long eyelashesHP:0000527
  • Low-set earsHP:0000369
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • Orofacial cleftHP:0000202
  • ScoliosisHP:0002650
  • Severe intellectual disabilityHP:0010864
  • Short statureHP:0004322
  • Single transverse palmar creaseHP:0000954
  • StrabismusHP:0000486
  • SynophrysHP:0000664
  • Widely-spaced maxillary central incisorsHP:0001566