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Distal deletion 15q syndrome

ORPHA:1596 · Malformation syndrome · Disorder

HPO 表現型（共 59 項）

Very frequent (99-80%)(2)

  • Intrauterine growth retardationHP:0001511
  • Small for gestational ageHP:0001518

Frequent (79-30%)(47)

  • 2-3 toe cutaneous syndactylyHP:0005709
  • Abnormal aortic arch morphologyHP:0012303
  • Abnormality of the dentitionHP:0000164
  • Attention deficit hyperactivity disorderHP:0007018
  • Autistic behaviorHP:0000729
  • Bicuspid aortic valveHP:0001647
  • Bifid tongueHP:0010297
  • BlepharophimosisHP:0000581
  • Broad nasal tipHP:0000455
  • Cleft palateHP:0000175
  • Coarctation of aortaHP:0001680
  • Coarse facial featuresHP:0000280
  • Congenital diaphragmatic herniaHP:0000776
  • CryptorchidismHP:0000028
  • Decreased circulating insulin-like growth factor 1 concentrationHP:0030353
  • Delayed speech and language developmentHP:0000750
  • Failure to thriveHP:0001508
  • Finger clinodactylyHP:0040019
  • Flat occiputHP:0005469
  • Generalized joint hypermobilityHP:0002761
  • Genu valgumHP:0002857
  • Global developmental delayHP:0001263
  • Growth delayHP:0001510
  • Hearing impairmentHP:0000365
  • Hip dislocationHP:0002827
  • HypertelorismHP:0000316
  • HypospadiasHP:0000047
  • Low 1-minute APGAR scoreHP:0030918
  • Low-set earsHP:0000369
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • MicropenisHP:0000054
  • Mitral stenosisHP:0001718
  • Postnatal growth retardationHP:0008897
  • Pulmonary hypoplasiaHP:0002089
  • SeizureHP:0001250
  • Short distal phalanx of fingerHP:0009882
  • Short fingerHP:0009381
  • Short philtrumHP:0000322
  • Short statureHP:0004322
  • Small handHP:0200055
  • Small nailHP:0001792
  • StrabismusHP:0000486
  • Talipes equinovarusHP:0001762
  • Thin upper lip vermilionHP:0000219
  • Triangular faceHP:0000325
  • Upslanted palpebral fissureHP:0000582

Occasional (29-5%)(10)

  • Abnormal localization of kidneyHP:0100542
  • Aplasia cutis congenita over the scalp vertexHP:0004471
  • Cystic hygromaHP:0000476
  • Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosisHP:0011651
  • Hypoplastic left ventricleHP:0004383
  • Mitral atresiaHP:0011560
  • Multicystic kidney dysplasiaHP:0000003
  • Patent ductus arteriosusHP:0001643
  • Single transverse palmar creaseHP:0000954
  • Single umbilical arteryHP:0001195