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Growth delay due to insulin-like growth factor type 1 deficiency

ORPHA:73272 · Disease · Disorder

HPO 表現型（共 42 項）

Very frequent (99-80%)(20)

  • Abnormal facial shapeHP:0001999
  • Attention deficit hyperactivity disorderHP:0007018
  • Atypical behaviorHP:0000708
  • Bilateral sensorineural hearing impairmentHP:0008619
  • Congenital sensorineural hearing impairmentHP:0008527
  • Failure to thriveHP:0001508
  • HyperactivityHP:0000752
  • Insulin resistanceHP:0000855
  • Intellectual disabilityHP:0001249
  • Intrauterine growth retardationHP:0001511
  • MicrocephalyHP:0000252
  • Mild intellectual disabilityHP:0001256
  • Postnatal growth retardationHP:0008897
  • Prelingual sensorineural hearing impairmentHP:0000399
  • Sensorineural hearing impairmentHP:0000407
  • Severe intrauterine growth retardationHP:0008846
  • Severe postnatal growth retardationHP:0008850
  • Short attention spanHP:0000736
  • Short statureHP:0004322
  • Small for gestational ageHP:0001518

Frequent (79-30%)(10)

  • Abnormality of the mouthHP:0000153
  • ClinodactylyHP:0030084
  • Clinodactyly of the 5th fingerHP:0004209
  • Delayed eruption of teethHP:0000684
  • Delayed skeletal maturationHP:0002750
  • HypogonadismHP:0000135
  • MicrognathiaHP:0000347
  • Neonatal hyperbilirubinemiaHP:0003265
  • OsteoporosisHP:0000939
  • Small placentaHP:0006266

Occasional (29-5%)(12)

  • Cafe-au-lait spotHP:0000957
  • Concave nasal ridgeHP:0011120
  • Congenital bilateral ptosisHP:0007911
  • HypoglycemiaHP:0001943
  • Low anterior hairlineHP:0000294
  • Low posterior hairlineHP:0002162
  • Motor delayHP:0001270
  • MyopiaHP:0000545
  • Prominent foreheadHP:0011220
  • PtosisHP:0000508
  • Single transverse palmar creaseHP:0000954
  • Truncal obesityHP:0001956