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Neurofaciodigitorenal syndrome

ORPHA:2673 · Malformation syndrome · Disorder

HPO 表現型（共 30 項）

Very frequent (99-80%)(16)

  • Abnormal antitragus morphologyHP:0009896
  • Abnormal metacarpal morphologyHP:0005916
  • Abnormal oral mucosa morphologyHP:0011830
  • Abnormal pinna morphologyHP:0000377
  • Abnormal tragus morphologyHP:0009912
  • Atresia of the external auditory canalHP:0000413
  • BrachycephalyHP:0000248
  • Hypoplasia of the premaxillaHP:0010650
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • Intrauterine growth retardationHP:0001511
  • Low-set earsHP:0000369
  • Prominent foreheadHP:0011220
  • Prominent nasal bridgeHP:0000426
  • Short statureHP:0004322
  • Triphalangeal thumbHP:0001199

Frequent (79-30%)(14)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal distal phalanx morphology of fingerHP:0009832
  • Abnormality of the elbowHP:0009811
  • Abnormality of the philtrumHP:0000288
  • Corneal dystrophyHP:0001131
  • CryptorchidismHP:0000028
  • Downslanted palpebral fissuresHP:0000494
  • EpicanthusHP:0000286
  • HypertelorismHP:0000316
  • Mandibular prognathiaHP:0000303
  • Pectus excavatumHP:0000767
  • PlagiocephalyHP:0001357
  • PtosisHP:0000508
  • Unilateral renal agenesisHP:0000122