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1q21.1 microduplication syndrome

ORPHA:250994 · Malformation syndrome · Disorder

HPO 表現型（共 25 項）

Very frequent (99-80%)(2)

  • Global developmental delayHP:0001263
  • Intellectual disabilityHP:0001249

Frequent (79-30%)(3)

  • Frontal bossingHP:0002007
  • HypertelorismHP:0000316
  • MacrocephalyHP:0000256

Occasional (29-5%)(20)

  • Arthrogryposis multiplex congenitaHP:0002804
  • Attention deficit hyperactivity disorderHP:0007018
  • AutismHP:0000717
  • CataractHP:0000518
  • CryptorchidismHP:0000028
  • Failure to thriveHP:0001508
  • Gastroesophageal refluxHP:0002020
  • GlaucomaHP:0000501
  • HallucinationsHP:0000738
  • Hip dislocationHP:0002827
  • Hip dysplasiaHP:0001385
  • HydrocephalusHP:0000238
  • HypertoniaHP:0001276
  • HypospadiasHP:0000047
  • HypotoniaHP:0001252
  • SchizophreniaHP:0100753
  • SeizureHP:0001250
  • StrabismusHP:0000486
  • Talipes equinovarusHP:0001762
  • Tetralogy of FallotHP:0001636