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Ring chromosome 19 syndrome

ORPHA:1443 · Malformation syndrome · Disorder

HPO 表現型(共 16 項)

Occasional (29-5%)(16)

  • Autistic behaviorHP:0000729
  • Cutis laxaHP:0000973
  • Deep philtrumHP:0002002
  • Delayed gross motor developmentHP:0002194
  • Global developmental delayHP:0001263
  • Growth delayHP:0001510
  • Hearing impairmentHP:0000365
  • HypertelorismHP:0000316
  • Intellectual disabilityHP:0001249
  • Low-set earsHP:0000369
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • Posteriorly rotated earsHP:0000358
  • Prominent foreheadHP:0011220
  • Prominent nasal bridgeHP:0000426
  • Talipes equinovarusHP:0001762