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Laurence-Moon syndrome

ORPHA:2377 · Malformation syndrome · Disorder

HPO 表現型（共 24 項）

Very frequent (99-80%)(5)

  • Abnormal antitragus morphologyHP:0009896
  • Finger syndactylyHP:0006101
  • Hand polydactylyHP:0001161
  • Intellectual disabilityHP:0001249
  • ObesityHP:0001513

Frequent (79-30%)(5)

  • CryptorchidismHP:0000028
  • Hypoplasia of penisHP:0008736
  • Renal insufficiencyHP:0000083
  • Sensorineural hearing impairmentHP:0000407
  • Short statureHP:0004322

Occasional (29-5%)(14)

  • Abnormal cardiovascular system morphologyHP:0030680
  • AtaxiaHP:0001251
  • Bilateral single transverse palmar creasesHP:0007598
  • BrachycephalyHP:0000248
  • BrachydactylyHP:0001156
  • CataractHP:0000518
  • Congenital hepatic fibrosisHP:0002612
  • Displacement of the urethral meatusHP:0100627
  • EpicanthusHP:0000286
  • Iris colobomaHP:0000612
  • NystagmusHP:0000639
  • Posteriorly rotated earsHP:0000358
  • StrabismusHP:0000486
  • Type II diabetes mellitusHP:0005978