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Arthrogryposis-renal dysfunction-cholestasis syndrome

ORPHA:2697 · Malformation syndrome · Disorder

HPO 表現型（共 32 項）

Very frequent (99-80%)(2)

  • Arthrogryposis multiplex congenitaHP:0002804
  • Failure to thrive in infancyHP:0001531

Frequent (79-30%)(15)

  • Abnormal alpha granulesHP:0012483
  • Abnormal platelet aggregationHP:0030402
  • Abnormal platelet countHP:0011873
  • Aplasia/Hypoplasia of the corpus callosumHP:0007370
  • Chronic diarrheaHP:0002028
  • Congenital bilateral hip dislocationHP:0008780
  • Conjugated hyperbilirubinemiaHP:0002908
  • HepatomegalyHP:0002240
  • HyperkeratosisHP:0000962
  • IchthyosisHP:0008064
  • Intellectual disabilityHP:0001249
  • Neonatal cholestatic liver diseaseHP:0006566
  • Recurrent infectionsHP:0002719
  • Renal Fanconi syndromeHP:0001994
  • Renal tubular dysfunctionHP:0000124

Occasional (29-5%)(14)

  • Cutis laxaHP:0000973
  • Decreased fetal movementHP:0001558
  • Hearing impairmentHP:0000365
  • HypothyroidismHP:0000821
  • HypotoniaHP:0001252
  • Intrahepatic biliary atresiaHP:0005248
  • Low-set earsHP:0000369
  • MicrocephalyHP:0000252
  • NephrocalcinosisHP:0000121
  • Nephrogenic diabetes insipidusHP:0009806
  • OligohydramniosHP:0001562
  • OsteopeniaHP:0000938
  • Pathologic fractureHP:0002756
  • Skeletal muscle atrophyHP:0003202

Excluded (0%)(1)

  • Elevated gamma-glutamyltransferase levelHP:0030948