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1q21.1 microdeletion syndrome

ORPHA:250989 · Malformation syndrome · Disorder

HPO 表現型（共 47 項）

Frequent (79-30%)(11)

  • Bulbous noseHP:0000414
  • Deeply set eyeHP:0000490
  • EpicanthusHP:0000286
  • Frontal bossingHP:0002007
  • Global developmental delayHP:0001263
  • High palateHP:0000218
  • Intellectual disabilityHP:0001249
  • Long philtrumHP:0000343
  • MicrocephalyHP:0000252
  • Short statureHP:0004322
  • Wide nasal bridgeHP:0000431

Occasional (29-5%)(36)

  • Abnormal cardiac septum morphologyHP:0001671
  • Agenesis of corpus callosumHP:0001274
  • AnkyloglossiaHP:0010296
  • AnxietyHP:0000739
  • Attention deficit hyperactivity disorderHP:0007018
  • AutismHP:0000717
  • Broad hallux phalanxHP:0010059
  • Broad thumbHP:0011304
  • CataractHP:0000518
  • Clinodactyly of the 5th fingerHP:0004209
  • CryptorchidismHP:0000028
  • DepressionHP:0000716
  • Failure to thriveHP:0001508
  • Foot polydactylyHP:0001829
  • Hand polydactylyHP:0001161
  • High hypermetropiaHP:0008499
  • HydrocephalusHP:0000238
  • HydronephrosisHP:0000126
  • HypotoniaHP:0001252
  • Inguinal herniaHP:0000023
  • Interrupted aortic archHP:0011611
  • Intrauterine growth retardationHP:0001511
  • Iris colobomaHP:0000612
  • Joint hypermobilityHP:0001382
  • MicrophthalmiaHP:0000568
  • Patent ductus arteriosusHP:0001643
  • SchizophreniaHP:0100753
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • Sensorineural hearing impairmentHP:0000407
  • Short footHP:0001773
  • Sleep disturbanceHP:0002360
  • StrabismusHP:0000486
  • Talipes equinovarusHP:0001762
  • Toe syndactylyHP:0001770
  • Vesicoureteral refluxHP:0000076