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Genitopatellar syndrome

ORPHA:85201 · Malformation syndrome · Disorder

HPO 表現型（共 38 項）

Very frequent (99-80%)(19)

  • Arthrogryposis multiplex congenitaHP:0002804
  • Clitoral hypertrophyHP:0008665
  • Coarse facial featuresHP:0000280
  • CryptorchidismHP:0000028
  • Global developmental delayHP:0001263
  • Hip contractureHP:0003273
  • HydronephrosisHP:0000126
  • Hypoplastic iliaHP:0000946
  • Hypoplastic ischiaHP:0003175
  • Intellectual disabilityHP:0001249
  • Knee flexion contractureHP:0006380
  • MicrocephalyHP:0000252
  • Multicystic kidney dysplasiaHP:0000003
  • Patellar aplasiaHP:0006443
  • Prominent nasal bridgeHP:0000426
  • Prominent noseHP:0000448
  • Short palmHP:0004279
  • Small scrotumHP:0000046
  • Wide noseHP:0000445

Frequent (79-30%)(11)

  • Agenesis of corpus callosumHP:0001274
  • Delayed eruption of teethHP:0000684
  • Delayed speech and language developmentHP:0000750
  • Fine hairHP:0002213
  • HypertelorismHP:0000316
  • Long philtrumHP:0000343
  • Low-set earsHP:0000369
  • MicrognathiaHP:0000347
  • SeizureHP:0001250
  • Sparse scalp hairHP:0002209
  • Talipes equinovarusHP:0001762

Occasional (29-5%)(8)

  • ApneaHP:0002104
  • Atrial septal defectHP:0001631
  • Feeding difficultiesHP:0011968
  • Gastroesophageal refluxHP:0002020
  • Hearing impairmentHP:0000365
  • Pulmonary hypoplasiaHP:0002089
  • Radioulnar synostosisHP:0002974
  • Short statureHP:0004322