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8p23.1 microdeletion syndrome

ORPHA:251071 · Malformation syndrome · Disorder

HPO 表現型（共 49 項）

Very frequent (99-80%)(3)

  • Global developmental delayHP:0001263
  • Intrauterine growth retardationHP:0001511
  • Mild intellectual disabilityHP:0001256

Frequent (79-30%)(27)

  • Abnormal cardiac septum morphologyHP:0001671
  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal pinna morphologyHP:0000377
  • Atrioventricular canal defectHP:0006695
  • Attention deficit hyperactivity disorderHP:0007018
  • Atypical behaviorHP:0000708
  • Biparietal narrowingHP:0004422
  • CryptorchidismHP:0000028
  • Enlarged thoraxHP:0100625
  • EpicanthusHP:0000286
  • Growth delayHP:0001510
  • High foreheadHP:0000348
  • High palateHP:0000218
  • HypospadiasHP:0000047
  • Low-set earsHP:0000369
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • Poor speechHP:0002465
  • Pulmonary artery stenosisHP:0004415
  • SeizureHP:0001250
  • Short neckHP:0000470
  • Short noseHP:0003196
  • Short statureHP:0004322
  • Tapered fingerHP:0001182
  • Weight lossHP:0001824
  • Wide intermamillary distanceHP:0006610
  • Wide nasal bridgeHP:0000431

Occasional (29-5%)(19)

  • Abnormal aortic morphologyHP:0001679
  • Broad hallux phalanxHP:0010059
  • Broad thumbHP:0011304
  • Congenital diaphragmatic herniaHP:0000776
  • Deeply set eyeHP:0000490
  • Downslanted palpebral fissuresHP:0000494
  • Full cheeksHP:0000293
  • Hypertrophic cardiomyopathyHP:0001639
  • Hypoplastic left ventricleHP:0004383
  • ObesityHP:0001513
  • Patent ductus arteriosusHP:0001643
  • Pes planusHP:0001763
  • Prominent nasal bridgeHP:0000426
  • Proximal placement of thumbHP:0009623
  • StrabismusHP:0000486
  • Tetralogy of FallotHP:0001636
  • Thin vermilion borderHP:0000233
  • Transposition of the great arteriesHP:0001669
  • Upslanted palpebral fissureHP:0000582