← 返回搜尋

Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome

ORPHA:3085 · Malformation syndrome · Disorder

HPO 表現型（共 27 項）

Very frequent (99-80%)(11)

  • Abnormal retinal pigmentationHP:0007703
  • Acanthosis nigricansHP:0000956
  • Decreased testicular sizeHP:0008734
  • GynecomastiaHP:0000771
  • Hypergonadotropic hypogonadismHP:0000815
  • HyperinsulinemiaHP:0000842
  • Intellectual disabilityHP:0001249
  • NystagmusHP:0000639
  • Sensorineural hearing impairmentHP:0000407
  • Short statureHP:0004322
  • Type II diabetes mellitusHP:0005978

Frequent (79-30%)(12)

  • BrachydactylyHP:0001156
  • Broad footHP:0001769
  • CataractHP:0000518
  • Coarse facial featuresHP:0000280
  • CryptorchidismHP:0000028
  • Delayed skeletal maturationHP:0002750
  • Dry skinHP:0000958
  • KeloidsHP:0010562
  • ObesityHP:0001513
  • Secondary amenorrheaHP:0000869
  • Short toeHP:0001831
  • Visual impairmentHP:0000505

Occasional (29-5%)(4)

  • Cerebellar atrophyHP:0001272
  • HyperlordosisHP:0003307
  • KyphosisHP:0002808
  • Polycystic ovariesHP:0000147