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Deafness-enamel hypoplasia-nail defects syndrome

ORPHA:3220 · Malformation syndrome · Disorder

HPO 表現型（共 33 項）

Very frequent (99-80%)(18)

  • Abnormal dental enamel morphologyHP:0000682
  • Abnormal eyebrow morphologyHP:0000534
  • Abnormal eyelid morphologyHP:0000492
  • Abnormal fingernail morphologyHP:0001231
  • Abnormal hair quantityHP:0011362
  • Abnormal nasolacrimal system morphologyHP:0000614
  • Abnormal toenail morphologyHP:0008388
  • Abnormality of nail colorHP:0100643
  • Abnormality of the dentitionHP:0000164
  • Diabetes mellitusHP:0000819
  • External genital hypoplasiaHP:0003241
  • Hearing impairmentHP:0000365
  • HypogonadismHP:0000135
  • Intellectual disabilityHP:0001249
  • Pili tortiHP:0003777
  • Sensorineural hearing impairmentHP:0000407
  • TaurodontiaHP:0000679
  • Thin eyebrowHP:0045074

Frequent (79-30%)(5)

  • ArrhythmiaHP:0011675
  • Large handsHP:0001176
  • Primary amenorrheaHP:0000786
  • Round faceHP:0000311
  • Short statureHP:0004322

Occasional (29-5%)(10)

  • Acanthosis nigricansHP:0000956
  • Camptodactyly of fingerHP:0100490
  • Cerebral calcificationHP:0002514
  • Delayed skeletal maturationHP:0002750
  • High anterior hairlineHP:0009890
  • HyporeflexiaHP:0001265
  • IchthyosisHP:0008064
  • Muscle flaccidityHP:0010547
  • Peripheral neuropathyHP:0009830
  • Sensory neuropathyHP:0000763