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7q31 microdeletion syndrome

ORPHA:251061 · Malformation syndrome · Disorder

HPO 表現型（共 50 項）

Frequent (79-30%)(3)

  • Delayed speech and language developmentHP:0000750
  • Recurrent ear infectionsHP:0410018
  • Speech apraxiaHP:0011098

Occasional (29-5%)(47)

  • Abnormal speech patternHP:0002167
  • Abnormal temper tantrumsHP:0025160
  • Abnormality of von Willebrand factorHP:0012146
  • AsthmaHP:0002099
  • Atrial septal defectHP:0001631
  • Autistic behaviorHP:0000729
  • Axial hypotoniaHP:0008936
  • Childhood onset sensorineural hearing impairmentHP:0011474
  • Clinodactyly of the 2nd fingerHP:0040022
  • Delayed skeletal maturationHP:0002750
  • DysarthriaHP:0001260
  • DysphagiaHP:0002015
  • Enlarged cochlear aqueductHP:0011388
  • Enuresis nocturnaHP:0010677
  • EpicanthusHP:0000286
  • EsodeviationHP:0020045
  • GalactosuriaHP:0012023
  • Gastroesophageal refluxHP:0002020
  • HyperactivityHP:0000752
  • Hypernasal speechHP:0001611
  • HypertelorismHP:0000316
  • Hypoplasia of the cochleaHP:0008586
  • Hypoplasia of the maxillaHP:0000327
  • Hypoplasia of the olfactory bulbHP:0040326
  • Hypoplasia of the semicircular canalHP:0011382
  • Intellectual disabilityHP:0001249
  • Intrauterine growth retardationHP:0001511
  • Long philtrumHP:0000343
  • Low-set earsHP:0000369
  • MacrocephalyHP:0000256
  • Nasogastric tube feeding in infancyHP:0011470
  • Neurodevelopmental delayHP:0012758
  • Patent ductus arteriosus after birth at termHP:0011648
  • PlagiocephalyHP:0001357
  • Postnatal growth retardationHP:0008897
  • Prominent fingertip padsHP:0001212
  • Prominent noseHP:0000448
  • Recurrent respiratory infectionsHP:0002205
  • ScoliosisHP:0002650
  • Severe global developmental delayHP:0011344
  • Short attention spanHP:0000736
  • Short palpebral fissureHP:0012745
  • Skeletal muscle atrophyHP:0003202
  • TelecanthusHP:0000506
  • TorticollisHP:0000473
  • Wide mouthHP:0000154
  • Wide nasal ridgeHP:0012811