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Ring chromosome 12 syndrome

ORPHA:1439 · Malformation syndrome · Disorder

HPO 表現型（共 27 項）

Obligate (100%)(3)

  • Abnormal facial shapeHP:0001999
  • Global developmental delayHP:0001263
  • Growth delayHP:0001510

Frequent (79-30%)(3)

  • Abnormal dermatoglyphicsHP:0007477
  • ClinodactylyHP:0030084
  • MicrocephalyHP:0000252

Occasional (29-5%)(21)

  • Abnormal 5th finger morphologyHP:0004207
  • AcneHP:0001061
  • Breast hypoplasiaHP:0003187
  • CryptorchidismHP:0000028
  • Dystrophic toenailHP:0001810
  • EsotropiaHP:0000565
  • Glanular hypospadiasHP:0000807
  • HemangiomaHP:0001028
  • High, narrow palateHP:0002705
  • HirsutismHP:0001007
  • HypothyroidismHP:0000821
  • Low-set earsHP:0000369
  • Lumbar hyperlordosisHP:0002938
  • MicrotiaHP:0008551
  • Pectus excavatumHP:0000767
  • Secundum atrial septal defectHP:0001684
  • Small for gestational ageHP:0001518
  • SyndactylyHP:0001159
  • Thumb symphalangismHP:0009656
  • Uterine leiomyomaHP:0000131
  • Webbed neckHP:0000465