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Pseudoleprechaunism syndrome, Patterson type

ORPHA:2976 · Malformation syndrome · Disorder

HPO 表現型（共 29 項）

Very frequent (99-80%)(25)

  • Abnormal ethmoid bone morphologyHP:0430005
  • Abnormal limb epiphysis morphologyHP:0006505
  • Abnormal mandible condylar process morphologyHP:3000077
  • Abnormal odontoid process morphologyHP:0003310
  • Abnormal placental sizeHP:0012767
  • Bilateral tonic-clonic seizureHP:0002069
  • Bladder diverticulumHP:0000015
  • Delayed pubic bone ossificationHP:0008788
  • Delayed skeletal maturationHP:0002750
  • Diabetes mellitusHP:0000819
  • Flat acetabular roofHP:0003180
  • Generalized bronze hyperpigmentationHP:0007574
  • Genu valgumHP:0002857
  • HirsutismHP:0001007
  • Hyperplasia of the maxillaHP:0430028
  • Joint swellingHP:0001386
  • KyphoscoliosisHP:0002751
  • Large handsHP:0001176
  • Long footHP:0001833
  • MacrotiaHP:0000400
  • Metaphyseal sclerosisHP:0004979
  • Palmoplantar cutis laxaHP:0007517
  • Prominent noseHP:0000448
  • Severe intellectual disabilityHP:0010864
  • Thickened calvariaHP:0002684

Frequent (79-30%)(3)

  • Atonic seizureHP:0010819
  • Increased circulating androgen concentrationHP:0030348
  • Premature adrenarcheHP:0012412

Excluded (0%)(1)

  • Intrauterine growth retardationHP:0001511