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Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome

ORPHA:436245 · Disease · Disorder

HPO 表現型（共 27 項）

Very frequent (99-80%)(9)

  • Abnormal facial shapeHP:0001999
  • Global developmental delayHP:0001263
  • Juvenile cataractHP:0001118
  • Moderate intellectual disabilityHP:0002342
  • Progressive night blindnessHP:0007675
  • Progressive visual lossHP:0000529
  • Rod-cone dystrophyHP:0000510
  • Short statureHP:0004322
  • Underdeveloped nasal alaeHP:0000430

Frequent (79-30%)(16)

  • Attached earlobeHP:0009907
  • BrachydactylyHP:0001156
  • Broad columellaHP:0010761
  • Constriction of peripheral visual fieldHP:0001133
  • Dental malocclusionHP:0000689
  • DiastemaHP:0000699
  • IncoordinationHP:0002311
  • Low-set earsHP:0000369
  • Malar flatteningHP:0000272
  • MicrognathiaHP:0000347
  • Patchy atrophy of the retinal pigment epitheliumHP:0007791
  • Poor fine motor coordinationHP:0007010
  • Short neckHP:0000470
  • Specific learning disabilityHP:0001328
  • Undetectable visual evoked potentialsHP:0007965
  • Upslanted palpebral fissureHP:0000582

Occasional (29-5%)(2)

  • Downslanted palpebral fissuresHP:0000494
  • MacrotiaHP:0000400