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Microcephaly-microcornea syndrome, Seemanova type

ORPHA:2528 · Malformation syndrome · Disorder

HPO 表現型(共 15 項)

Very frequent (99-80%)(15)

  • BrachycephalyHP:0000248
  • CataractHP:0000518
  • EpicanthusHP:0000286
  • Growth delayHP:0001510
  • High palateHP:0000218
  • HypogonadismHP:0000135
  • MicrocephalyHP:0000252
  • MicrocorneaHP:0000482
  • MicrophthalmiaHP:0000568
  • Narrow mouthHP:0000160
  • Progressive spasticityHP:0002191
  • RetrognathiaHP:0000278
  • Severe intellectual disabilityHP:0010864
  • Short statureHP:0004322
  • Upslanted palpebral fissureHP:0000582