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Growth delay-intellectual disability-hepatopathy syndrome

ORPHA:541423 · Disease · Disorder

HPO 表現型（共 35 項）

Very frequent (99-80%)(6)

  • Decreased serum zincHP:0031831
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Global developmental delayHP:0001263
  • Growth delayHP:0001510
  • Intellectual disabilityHP:0001249
  • Intrauterine growth retardationHP:0001511

Frequent (79-30%)(7)

  • Absent speechHP:0001344
  • CholestasisHP:0001396
  • Feeding difficultiesHP:0011968
  • Hepatic fibrosisHP:0001395
  • Hepatic steatosisHP:0001397
  • HypotoniaHP:0001252
  • Recurrent infectionsHP:0002719

Occasional (29-5%)(22)

  • Abnormal circulating vitamin D concentrationHP:0100511
  • Autistic behaviorHP:0000729
  • Brain imaging abnormalityHP:0410263
  • Dermal translucencyHP:0010648
  • Diabetes mellitusHP:0000819
  • Drumstick terminal phalangesHP:0006129
  • Duplicated collecting systemHP:0000081
  • EsophagitisHP:0100633
  • Full cheeksHP:0000293
  • Hepatic failureHP:0001399
  • HepatosplenomegalyHP:0001433
  • HydronephrosisHP:0000126
  • Hyperextensible skinHP:0000974
  • Joint hypermobilityHP:0001382
  • MicrocephalyHP:0000252
  • Mild global developmental delayHP:0011342
  • OligohydramniosHP:0001562
  • Round faceHP:0000311
  • SeizureHP:0001250
  • Sensorineural hearing impairmentHP:0000407
  • Soft, doughy skinHP:0001027
  • SpasticityHP:0001257