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Johanson-Blizzard syndrome

ORPHA:2315 · Malformation syndrome · Disorder

HPO 表現型（共 37 項）

Very frequent (99-80%)(11)

  • Abnormal hair patternHP:0010720
  • Abnormality of the dentitionHP:0000164
  • Abnormality of the pancreasHP:0001732
  • AlopeciaHP:0001596
  • Exocrine pancreatic insufficiencyHP:0001738
  • Failure to thriveHP:0001508
  • Intrauterine growth retardationHP:0001511
  • MalabsorptionHP:0002024
  • Short noseHP:0003196
  • Short statureHP:0004322
  • Underdeveloped nasal alaeHP:0000430

Frequent (79-30%)(14)

  • Abnormal vagina morphologyHP:0000142
  • Abnormality of the female genitaliaHP:0010460
  • Absent lacrimal punctumHP:0001092
  • Anal atresiaHP:0002023
  • AnemiaHP:0001903
  • Anteriorly placed anusHP:0001545
  • Delayed eruption of teethHP:0000684
  • Delayed skeletal maturationHP:0002750
  • HypoproteinemiaHP:0003075
  • Intellectual disabilityHP:0001249
  • Lacrimation abnormalityHP:0000632
  • MicrodontiaHP:0000691
  • OligodontiaHP:0000677
  • Sensorineural hearing impairmentHP:0000407

Occasional (29-5%)(12)

  • Abnormal cardiac septum morphologyHP:0001671
  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal nostril morphologyHP:0005288
  • Death in infancyHP:0001522
  • DextrocardiaHP:0001651
  • Diabetes mellitusHP:0000819
  • EdemaHP:0000969
  • HydronephrosisHP:0000126
  • Hypoplasia of penisHP:0008736
  • HypospadiasHP:0000047
  • HypotoniaHP:0001252
  • MicrocephalyHP:0000252