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Myhre syndrome

ORPHA:2588 · Malformation syndrome · Disorder

HPO 表現型（共 47 項）

Very frequent (99-80%)(20)

  • Abnormal pubic bone morphologyHP:0003172
  • Abnormal rib morphologyHP:0000772
  • BrachydactylyHP:0001156
  • Craniofacial hyperostosisHP:0004493
  • Global developmental delayHP:0001263
  • Hearing impairmentHP:0000365
  • Hypoplasia of the maxillaHP:0000327
  • Intellectual disabilityHP:0001249
  • Intrauterine growth retardationHP:0001511
  • Joint stiffnessHP:0001387
  • Large iliac wingHP:0008818
  • Mandibular prognathiaHP:0000303
  • Midface retrusionHP:0011800
  • Narrow mouthHP:0000160
  • PlatyspondylyHP:0000926
  • Severe short statureHP:0003510
  • Short palmHP:0004279
  • Skeletal muscle hypertrophyHP:0003712
  • Specific learning disabilityHP:0001328
  • Thin vermilion borderHP:0000233

Frequent (79-30%)(12)

  • Abnormal cardiac septum morphologyHP:0001671
  • Abnormal epiphysis morphologyHP:0005930
  • Abnormal lip morphologyHP:0000159
  • Abnormal metaphysis morphologyHP:0000944
  • BlepharophimosisHP:0000581
  • CryptorchidismHP:0000028
  • EMG abnormalityHP:0003457
  • High hypermetropiaHP:0008499
  • HypertensionHP:0000822
  • PtosisHP:0000508
  • Short palpebral fissureHP:0012745
  • Thickened skinHP:0001072

Occasional (29-5%)(15)

  • Abnormal penis morphologyHP:0000036
  • Atypical behaviorHP:0000708
  • Bifid uvulaHP:0000193
  • CataractHP:0000518
  • Cleft palateHP:0000175
  • EpispadiasHP:0000039
  • External genital hypoplasiaHP:0003241
  • Femoral herniaHP:0100541
  • Gingival cleftHP:0030690
  • HypogonadismHP:0000135
  • HypospadiasHP:0000047
  • Inguinal herniaHP:0000023
  • Precocious pubertyHP:0000826
  • Submucous cleft hard palateHP:0000176
  • Unilateral cleft lipHP:0100333