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Microcephaly-brachydactyly-kyphoscoliosis syndrome

ORPHA:3433 · Malformation syndrome · Disorder

HPO 表現型（共 19 項）

Very frequent (99-80%)(12)

  • Decreased muscle massHP:0003199
  • DolichocephalyHP:0000268
  • Flat occiputHP:0005469
  • High, narrow palateHP:0002705
  • KyphoscoliosisHP:0002751
  • Low-set earsHP:0000369
  • MacrotiaHP:0000400
  • Malar flatteningHP:0000272
  • MicrocephalyHP:0000252
  • Profound intellectual disabilityHP:0002187
  • Short statureHP:0004322
  • Shuffling gaitHP:0002362

Frequent (79-30%)(7)

  • Atlantoaxial abnormalityHP:0003413
  • Broad halluxHP:0010055
  • Broad thumbHP:0011304
  • CataractHP:0000518
  • Downslanted palpebral fissuresHP:0000494
  • Hypermobility of interphalangeal jointsHP:0005620
  • Wide nasal ridgeHP:0012811