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Tall stature-intellectual disability-renal anomalies syndrome

ORPHA:500095 · Malformation syndrome · Disorder

HPO 表現型（共 47 項）

Frequent (79-30%)(18)

  • Abnormal facial shapeHP:0001999
  • Bifid ureterHP:0030037
  • CamptodactylyHP:0012385
  • Downslanted palpebral fissuresHP:0000494
  • Global developmental delayHP:0001263
  • Intellectual disabilityHP:0001249
  • Large for gestational ageHP:0001520
  • MacrocephalyHP:0000256
  • Mitral valve prolapseHP:0001634
  • Persistently decreased total neutrophil countHP:0410252
  • Proportionate tall statureHP:0011407
  • Renal malrotationHP:0004712
  • Retinal colobomaHP:0000480
  • Sensorineural hearing impairmentHP:0000407
  • Specific learning disabilityHP:0001328
  • Thick vermilion borderHP:0012471
  • Transiently decreased total neutrophil countHP:0410255
  • Ventricular septal defectHP:0001629

Occasional (29-5%)(29)

  • Abnormal femoral torsionHP:0031069
  • Abnormal right ventricle morphologyHP:0001707
  • Abnormal thumb morphologyHP:0001172
  • AstigmatismHP:0000483
  • CataractHP:0000518
  • Deeply set eyeHP:0000490
  • Delayed speech and language developmentHP:0000750
  • Enlarged kidneyHP:0000105
  • EpicanthusHP:0000286
  • HypertelorismHP:0000316
  • Inguinal herniaHP:0000023
  • Large handsHP:0001176
  • Long footHP:0001833
  • Long halluxHP:0001847
  • Long palpebral fissureHP:0000637
  • MacroglossiaHP:0000158
  • MacrotiaHP:0000400
  • Metatarsus adductusHP:0001840
  • Midface retrusionHP:0011800
  • Multicystic kidney dysplasiaHP:0000003
  • NephroblastomaHP:0002667
  • Protruding earHP:0000411
  • Round faceHP:0000311
  • Spina bifida occultaHP:0003298
  • StrabismusHP:0000486
  • Talipes equinovarusHP:0001762
  • Tibial bowingHP:0002982
  • Tibial torsionHP:0100694
  • Varicose veinsHP:0002619