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Ring chromosome 17 syndrome

ORPHA:1441 · Malformation syndrome · Disorder

HPO 表現型（共 18 項）

Frequent (79-30%)(6)

  • Cafe-au-lait spotHP:0000957
  • Global developmental delayHP:0001263
  • Intellectual disabilityHP:0001249
  • Retinal flecksHP:0012045
  • SeizureHP:0001250
  • Short statureHP:0004322

Occasional (29-5%)(12)

  • ClinodactylyHP:0030084
  • Delayed speech and language developmentHP:0000750
  • EpicanthusHP:0000286
  • Growth delayHP:0001510
  • HypotoniaHP:0001252
  • Intrauterine growth retardationHP:0001511
  • LissencephalyHP:0001339
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • Specific learning disabilityHP:0001328
  • Toe syndactylyHP:0001770
  • Wide nasal bridgeHP:0000431