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Aniridia-renal agenesis-psychomotor retardation syndrome

ORPHA:1064 · Malformation syndrome · Disorder

HPO 表現型（共 16 項）

Very frequent (99-80%)(12)

  • AniridiaHP:0000526
  • Anteverted naresHP:0000463
  • CraniosynostosisHP:0001363
  • Depressed nasal bridgeHP:0005280
  • Developmental glaucomaHP:0001087
  • Downturned corners of mouthHP:0002714
  • Frontal bossingHP:0002007
  • Mild global developmental delayHP:0011342
  • Short statureHP:0004322
  • StrabismusHP:0000486
  • TelecanthusHP:0000506
  • Unilateral renal agenesisHP:0000122

Frequent (79-30%)(4)

  • Communicating hydrocephalusHP:0001334
  • Corneal opacityHP:0007957
  • HypotoniaHP:0001252
  • MicrognathiaHP:0000347