← 返回搜尋

Growth delay due to insulin-like growth factor I resistance

ORPHA:73273 · Disease · Disorder

HPO 表現型(共 16 項)

Very frequent (99-80%)(4)

  • Delayed skeletal maturationHP:0002750
  • Growth delayHP:0001510
  • Intrauterine growth retardationHP:0001511
  • Short statureHP:0004322

Frequent (79-30%)(12)

  • Broad nasal tipHP:0000455
  • ClinodactylyHP:0030084
  • Everted lower lip vermilionHP:0000232
  • Intellectual disabilityHP:0001249
  • MicrocephalyHP:0000252
  • Motor delayHP:0001270
  • Pectus excavatumHP:0000767
  • Short palmHP:0004279
  • Smooth philtrumHP:0000319
  • Thin vermilion borderHP:0000233
  • Wide intermamillary distanceHP:0006610
  • Wide nasal bridgeHP:0000431