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Microcephalic primordial dwarfism, Toriello type

ORPHA:2643 · Malformation syndrome · Disorder

HPO 表現型（共 18 項）

Very frequent (99-80%)(13)

  • Abnormal epiphysis morphologyHP:0005930
  • BrachydactylyHP:0001156
  • CataractHP:0000518
  • Decreased circulating IgG concentrationHP:0004315
  • Decreased circulating IgM concentrationHP:0002850
  • Delayed skeletal maturationHP:0002750
  • Downslanted palpebral fissuresHP:0000494
  • Enamel hypoplasiaHP:0006297
  • Intellectual disabilityHP:0001249
  • Intrauterine growth retardationHP:0001511
  • MicrocephalyHP:0000252
  • Recurrent respiratory infectionsHP:0002205
  • Severe short statureHP:0003510

Frequent (79-30%)(5)

  • Abnormal rib morphologyHP:0000772
  • Decreased total neutrophil countHP:0001875
  • Downturned corners of mouthHP:0002714
  • HypotoniaHP:0001252
  • VentriculomegalyHP:0002119