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Bonnemann-Meinecke-Reich syndrome

ORPHA:1261 · Malformation syndrome · Disorder

HPO 表現型（共 11 項）

Very frequent (99-80%)(9)

  • Cerebral calcificationHP:0002514
  • Decreased response to growth hormone stimulation testHP:0000824
  • DolichocephalyHP:0000268
  • EEG abnormalityHP:0002353
  • MicrocephalyHP:0000252
  • Mild intellectual disabilityHP:0001256
  • Short statureHP:0004322
  • SpasticityHP:0001257
  • VentriculomegalyHP:0002119

Occasional (29-5%)(2)

  • MicrognathiaHP:0000347
  • Visual impairmentHP:0000505