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Cataract-aberrant oral frenula-growth delay syndrome

ORPHA:1373 · Malformation syndrome · Disorder

HPO 表現型(共 10 項)

Frequent (79-30%)(10)

  • Accessory oral frenulumHP:0000191
  • CataractHP:0000518
  • Cavernous hemangiomaHP:0001048
  • EpicanthusHP:0000286
  • High hypermetropiaHP:0008499
  • Inguinal herniaHP:0000023
  • Posteriorly rotated earsHP:0000358
  • PtosisHP:0000508
  • Short statureHP:0004322
  • Umbilical herniaHP:0001537