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Hepatic fibrosis-renal cysts-intellectual disability syndrome

ORPHA:2031 · Malformation syndrome · Disorder

HPO 表現型（共 29 項）

Very frequent (99-80%)(3)

  • Congenital hepatic fibrosisHP:0002612
  • Intellectual disabilityHP:0001249
  • PtosisHP:0000508

Frequent (79-30%)(26)

  • Abnormal dermatoglyphicsHP:0007477
  • Abnormality of movementHP:0100022
  • Abnormality of the eyeHP:0000478
  • Abnormality of visionHP:0000504
  • Anteverted naresHP:0000463
  • Biparietal narrowingHP:0004422
  • BlepharophimosisHP:0000581
  • Chorioretinal colobomaHP:0000567
  • Clinodactyly of the 5th fingerHP:0004209
  • GlossoptosisHP:0000162
  • Hearing abnormalityHP:0000364
  • HypertoniaHP:0001276
  • MeningoceleHP:0002435
  • Multicystic kidney dysplasiaHP:0000003
  • NystagmusHP:0000639
  • Posteriorly rotated earsHP:0000358
  • Protruding earHP:0000411
  • Renal cystHP:0000107
  • Respiratory insufficiencyHP:0002093
  • SeizureHP:0001250
  • Short noseHP:0003196
  • Short statureHP:0004322
  • StrabismusHP:0000486
  • Underdeveloped nasal alaeHP:0000430
  • VentriculomegalyHP:0002119
  • Visual impairmentHP:0000505