← 返回搜尋

Ring chromosome 15 syndrome

ORPHA:96177 · Malformation syndrome · Disorder

HPO 表現型（共 34 項）

Very frequent (99-80%)(1)

  • Short statureHP:0004322

Frequent (79-30%)(12)

  • Abnormality of the genitourinary systemHP:0000119
  • Birth length less than 3rd percentileHP:0003561
  • ClinodactylyHP:0030084
  • Delayed skeletal maturationHP:0002750
  • Feeding difficulties in infancyHP:0008872
  • Global developmental delayHP:0001263
  • Growth delayHP:0001510
  • Intellectual disabilityHP:0001249
  • Intrauterine growth retardationHP:0001511
  • MicrocephalyHP:0000252
  • Small for gestational ageHP:0001518
  • Triangular faceHP:0000325

Occasional (29-5%)(21)

  • Abnormal heart morphologyHP:0001627
  • BrachydactylyHP:0001156
  • CryptorchidismHP:0000028
  • Delayed speech and language developmentHP:0000750
  • Downturned corners of mouthHP:0002714
  • Frontal bossingHP:0002007
  • High, narrow palateHP:0002705
  • HypertelorismHP:0000316
  • HypospadiasHP:0000047
  • HypotoniaHP:0001252
  • KyphosisHP:0002808
  • MicrognathiaHP:0000347
  • OligozoospermiaHP:0000798
  • ScoliosisHP:0002650
  • Single transverse palmar creaseHP:0000954
  • Sleep disturbanceHP:0002360
  • Small handHP:0200055
  • Specific learning disabilityHP:0001328
  • StrabismusHP:0000486
  • Talipes equinovarusHP:0001762
  • Wide nasal bridgeHP:0000431