← 返回搜尋

Alpha-mannosidosis, infantile form

ORPHA:309282 · Clinical subtype · Subtype of disorder

HPO 表現型（共 88 項）

Very frequent (99-80%)(10)

  • Abnormal circulating enzyme concentration or activityHP:0012379
  • Abnormal skeletal morphologyHP:0011842
  • Delayed speech and language developmentHP:0000750
  • Dysostosis multiplexHP:0000943
  • ImmunodeficiencyHP:0002721
  • Intellectual disabilityHP:0001249
  • OligosacchariduriaHP:0010471
  • Otitis mediaHP:0000388
  • Recurrent infectionsHP:0002719
  • Specific learning disabilityHP:0001328

Frequent (79-30%)(18)

  • AstheniaHP:0025406
  • AtaxiaHP:0001251
  • CataractHP:0000518
  • Coarse facial featuresHP:0000280
  • Facial shape deformationHP:0011334
  • HepatosplenomegalyHP:0001433
  • HypermetropiaHP:0000540
  • HypertelorismHP:0000316
  • HypotoniaHP:0001252
  • Mild intellectual disabilityHP:0001256
  • Mixed hearing impairmentHP:0000410
  • Motor delayHP:0001270
  • MyopathyHP:0003198
  • MyopiaHP:0000545
  • PneumoniaHP:0002090
  • Recurrent gastroenteritisHP:0031123
  • Short attention spanHP:0000736
  • StrabismusHP:0000486

Occasional (29-5%)(56)

  • Abnormal sella turcica morphologyHP:0002679
  • Abnormality of the sphenoid sinusHP:0430022
  • AnxietyHP:0000739
  • AstigmatismHP:0000483
  • Atypical behaviorHP:0000708
  • Avascular necrosisHP:0010885
  • Axial hypotoniaHP:0008936
  • Bilateral coxa valgaHP:0010665
  • Bilateral talipes equinovarusHP:0001776
  • BrachycephalyHP:0000248
  • Broad foreheadHP:0000337
  • Cerebellar atrophyHP:0001272
  • Cerebral cortical atrophyHP:0002120
  • Chiari malformationHP:0002308
  • ClumsinessHP:0002312
  • ConfusionHP:0001289
  • Corneal opacityHP:0007957
  • Cortical thickening of long bone diaphysesHP:0005791
  • Cranial hyperostosisHP:0004437
  • CraniosynostosisHP:0001363
  • DelusionHP:0000746
  • Depressed nasal bridgeHP:0005280
  • DepressionHP:0000716
  • Disproportionate tall statureHP:0001519
  • DrowsinessHP:0002329
  • Facial hypotoniaHP:0000297
  • Flat faceHP:0012368
  • Genu valgumHP:0002857
  • HallucinationsHP:0000738
  • Highly arched eyebrowHP:0002553
  • Hypoplastic inferior iliaHP:0008821
  • Joint hypermobilityHP:0001382
  • Joint stiffnessHP:0001387
  • MacrocephalyHP:0000256
  • MacroglossiaHP:0000158
  • Mandibular prognathiaHP:0000303
  • Mitral regurgitationHP:0001653
  • Optic disc pallorHP:0000543
  • OsteolysisHP:0002797
  • OsteopeniaHP:0000938
  • PancytopeniaHP:0001876
  • Pectus carinatumHP:0000768
  • Pectus excavatumHP:0000767
  • PlatyspondylyHP:0000926
  • Prominent foreheadHP:0011220
  • ProptosisHP:0000520
  • Sensorineural hearing impairmentHP:0000407
  • Short neckHP:0000470
  • Soft skinHP:0000977
  • Spastic paraplegiaHP:0001258
  • Subcortical cerebral atrophyHP:0012157
  • Talipes valgusHP:0004684
  • Thickened calvariaHP:0002684
  • Thickened ribsHP:0000900
  • Umbilical herniaHP:0001537
  • Widely spaced teethHP:0000687

Very rare (<4-1%)(4)

  • Aortic regurgitationHP:0001659
  • Communicating hydrocephalusHP:0001334
  • Loss of speechHP:0002371
  • Recurrent urinary tract infectionsHP:0000010