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X-linked creatine transporter deficiency

ORPHA:52503 · Disease · Disorder

HPO 表現型（共 26 項）

Very frequent (99-80%)(5)

  • Abnormal circulating creatine concentrationHP:0012113
  • Delayed speech and language developmentHP:0000750
  • Global developmental delayHP:0001263
  • Intellectual disabilityHP:0001249
  • SeizureHP:0001250

Frequent (79-30%)(16)

  • Aganglionic megacolonHP:0002251
  • AtaxiaHP:0001251
  • AthetosisHP:0002305
  • Autistic behaviorHP:0000729
  • CachexiaHP:0004326
  • ChoreaHP:0002072
  • ConstipationHP:0002019
  • DystoniaHP:0001332
  • HyperactivityHP:0000752
  • HypertoniaHP:0001276
  • HypotoniaHP:0001252
  • IleusHP:0002595
  • Malar flatteningHP:0000272
  • Open mouthHP:0000194
  • Self-mutilationHP:0000742
  • Short statureHP:0004322

Occasional (29-5%)(5)

  • Joint hypermobilityHP:0001382
  • Mask-like faciesHP:0000298
  • MicrocephalyHP:0000252
  • PtosisHP:0000508
  • Redundant skinHP:0001582