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Borjeson-Forssman-Lehmann syndrome

ORPHA:127 · Malformation syndrome · Disorder

HPO 表現型（共 34 項）

Very frequent (99-80%)(16)

  • Broad footHP:0001769
  • Camptodactyly of toeHP:0001836
  • Coarse facial featuresHP:0000280
  • CryptorchidismHP:0000028
  • Decreased testicular sizeHP:0008734
  • GynecomastiaHP:0000771
  • HypogonadismHP:0000135
  • Hypoplasia of penisHP:0008736
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • Large earlobeHP:0009748
  • Short toeHP:0001831
  • Small scrotumHP:0000046
  • Sparse hairHP:0008070
  • Tapered fingerHP:0001182
  • Truncal obesityHP:0001956

Frequent (79-30%)(6)

  • BlepharophimosisHP:0000581
  • Deeply set eyeHP:0000490
  • Feeding difficulties in infancyHP:0008872
  • Prominent supraorbital ridgesHP:0000336
  • PtosisHP:0000508
  • Thick eyebrowHP:0000574

Occasional (29-5%)(12)

  • Abnormal hip bone morphologyHP:0003272
  • CataractHP:0000518
  • Hearing impairmentHP:0000365
  • Joint hypermobilityHP:0001382
  • MacrocephalyHP:0000256
  • MicrocephalyHP:0000252
  • NystagmusHP:0000639
  • Orofacial cleftHP:0000202
  • Peripheral neuropathyHP:0009830
  • SeizureHP:0001250
  • Short statureHP:0004322
  • Skeletal muscle atrophyHP:0003202