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Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion

ORPHA:284169 · Clinical subtype · Subtype of disorder

HPO 表現型（共 46 項）

Very frequent (99-80%)(9)

  • Abnormal brain morphologyHP:0012443
  • Abnormal heart morphologyHP:0001627
  • Attention deficit hyperactivity disorderHP:0007018
  • Atypical behaviorHP:0000708
  • Delayed speech and language developmentHP:0000750
  • Global developmental delayHP:0001263
  • Intellectual disabilityHP:0001249
  • Motor delayHP:0001270
  • Visual impairmentHP:0000505

Frequent (79-30%)(11)

  • Aggressive behaviorHP:0000718
  • AnxietyHP:0000739
  • AstigmatismHP:0000483
  • ConstipationHP:0002019
  • Feeding difficultiesHP:0011968
  • Full cheeksHP:0000293
  • Neonatal hypotoniaHP:0001319
  • SeizureHP:0001250
  • Short palpebral fissureHP:0012745
  • Sleep disturbanceHP:0002360
  • StrabismusHP:0000486

Occasional (29-5%)(26)

  • Absent cupid's bowHP:0010800
  • AmblyopiaHP:0000646
  • Autistic behaviorHP:0000729
  • Bicuspid aortic valveHP:0001647
  • Bulbous noseHP:0000414
  • Celiac diseaseHP:0002608
  • Cerebellar hypoplasiaHP:0001321
  • Choanal atresiaHP:0000453
  • Chorioretinal colobomaHP:0000567
  • Coarctation of aortaHP:0001680
  • Deeply set eyeHP:0000490
  • Depressed nasal bridgeHP:0005280
  • Downslanted palpebral fissuresHP:0000494
  • Hearing impairmentHP:0000365
  • HypermetropiaHP:0000540
  • Hypoplasia of the corpus callosumHP:0002079
  • MyopiaHP:0000545
  • Patent ductus arteriosusHP:0001643
  • Posteriorly rotated earsHP:0000358
  • Prominent foreheadHP:0011220
  • Pulmonic stenosisHP:0001642
  • Short noseHP:0003196
  • SynophrysHP:0000664
  • Ventricular hypertrophyHP:0001714
  • Ventricular septal defectHP:0001629
  • VentriculomegalyHP:0002119