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BRESEK syndrome

ORPHA:85284 · Malformation syndrome · Disorder

HPO 表現型（共 29 項）

Very frequent (99-80%)(13)

  • Abnormal brain morphologyHP:0012443
  • AlopeciaHP:0001596
  • CryptorchidismHP:0000028
  • Global developmental delayHP:0001263
  • Growth delayHP:0001510
  • HydrocephalusHP:0000238
  • Hypoplasia of the bladderHP:0005343
  • Low-set earsHP:0000369
  • MicrocephalyHP:0000252
  • Optic nerve hypoplasiaHP:0000609
  • Protruding earHP:0000411
  • Renal hypoplasiaHP:0000089
  • Severe intellectual disabilityHP:0010864

Frequent (79-30%)(15)

  • Aganglionic megacolonHP:0002251
  • Cleft palateHP:0000175
  • Convex nasal ridgeHP:0000444
  • Decreased testicular sizeHP:0008734
  • Hearing impairmentHP:0000365
  • HemivertebraeHP:0002937
  • Intrauterine growth retardationHP:0001511
  • Iris colobomaHP:0000612
  • MicrophthalmiaHP:0000568
  • Neonatal deathHP:0003811
  • PlagiocephalyHP:0001357
  • Postaxial hand polydactylyHP:0001162
  • Renal dysplasiaHP:0000110
  • ScoliosisHP:0002650
  • Vesicoureteral refluxHP:0000076

Occasional (29-5%)(1)

  • IchthyosisHP:0008064