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Autosomal recessive malignant osteopetrosis

ORPHA:667 · Malformation syndrome · Disorder

HPO 表現型（共 43 項）

Very frequent (99-80%)(35)

  • Abnormal blistering of the skinHP:0008066
  • Abnormal epiphysis morphologyHP:0005930
  • Abnormal metaphysis morphologyHP:0000944
  • Abnormal rib morphologyHP:0000772
  • Abnormality of hair textureHP:0010719
  • Abnormality of metabolism/homeostasisHP:0001939
  • Abnormality of movementHP:0100022
  • Abnormality of temperature regulationHP:0004370
  • Abnormality of visual evoked potentialsHP:0000649
  • AnemiaHP:0001903
  • Bone painHP:0002653
  • Bowing of the long bonesHP:0006487
  • Chronic rhinitisHP:0002257
  • CraniosynostosisHP:0001363
  • Delayed eruption of teethHP:0000684
  • Growth delayHP:0001510
  • Hearing impairmentHP:0000365
  • HepatomegalyHP:0002240
  • HydrocephalusHP:0000238
  • LymphadenopathyHP:0002716
  • MacrocephalyHP:0000256
  • Narrow chestHP:0000774
  • NystagmusHP:0000639
  • OpsoclonusHP:0010543
  • Optic nerve compressionHP:0007807
  • OsteopetrosisHP:0011002
  • Otitis mediaHP:0000388
  • PallorHP:0000980
  • Premature loss of primary teethHP:0006323
  • Recurrent fracturesHP:0002757
  • Recurrent respiratory infectionsHP:0002205
  • Reduced bone mineral densityHP:0004349
  • SplenomegalyHP:0001744
  • TremorHP:0001337
  • Visual impairmentHP:0000505

Occasional (29-5%)(8)

  • Abnormal pulmonary valve morphologyHP:0001641
  • ApneaHP:0002104
  • Bruising susceptibilityHP:0000978
  • Cranial nerve paralysisHP:0006824
  • HypocalcemiaHP:0002901
  • HypophosphatemiaHP:0002148
  • Pulmonary arterial hypertensionHP:0002092
  • Pulmonary artery stenosisHP:0004415