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Microcephaly-cervical spine fusion anomalies syndrome

ORPHA:2522 · Malformation syndrome · Disorder

HPO 表現型（共 26 項）

Very frequent (99-80%)(17)

  • Abnormal reticulocyte morphologyHP:0004312
  • Abnormal rib morphologyHP:0000772
  • Convex nasal ridgeHP:0000444
  • Fused cervical vertebraeHP:0002949
  • HyperlordosisHP:0003307
  • Hyperplasia of midfaceHP:0012371
  • KyphosisHP:0002808
  • Low-set earsHP:0000369
  • Malar prominenceHP:0010620
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • Mild intellectual disabilityHP:0001256
  • Pectus excavatumHP:0000767
  • ProptosisHP:0000520
  • Short statureHP:0004322
  • Sloping foreheadHP:0000340
  • Spinal cord compressionHP:0002176

Frequent (79-30%)(9)

  • Abnormal clavicle morphologyHP:0000889
  • Abnormal dental morphologyHP:0006482
  • Abnormal hip bone morphologyHP:0003272
  • Abnormal speech patternHP:0002167
  • Abnormality of the ureterHP:0000069
  • HyperreflexiaHP:0001347
  • HypospadiasHP:0000047
  • PtosisHP:0000508
  • Short neckHP:0000470