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Dermotrichic syndrome

ORPHA:99688 · Malformation syndrome · Disorder

HPO 表現型（共 17 項）

Very frequent (99-80%)(15)

  • Abnormal vertebral morphologyHP:0003468
  • Aganglionic megacolonHP:0002251
  • BlepharophimosisHP:0000581
  • Depressed nasal bridgeHP:0005280
  • EEG abnormalityHP:0002353
  • Frontal bossingHP:0002007
  • Hyperconvex toenailHP:0030055
  • HypohidrosisHP:0000966
  • IchthyosisHP:0008064
  • Intellectual disabilityHP:0001249
  • MacrotiaHP:0000400
  • Nail dystrophyHP:0008404
  • Proportionate short statureHP:0003508
  • SeizureHP:0001250
  • Short noseHP:0003196

Occasional (29-5%)(2)

  • AminoaciduriaHP:0003355
  • AnemiaHP:0001903