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Alpha-mannosidosis

ORPHA:61 · Disease · Disorder

HPO 表現型（共 43 項）

Very frequent (99-80%)(15)

  • CataractHP:0000518
  • Coarse facial featuresHP:0000280
  • Corneal opacityHP:0007957
  • Craniofacial hyperostosisHP:0004493
  • Delayed skeletal maturationHP:0002750
  • Depressed nasal bridgeHP:0005280
  • Global developmental delayHP:0001263
  • Hearing impairmentHP:0000365
  • HepatomegalyHP:0002240
  • Hypoplastic inferior iliaHP:0008821
  • Intellectual disabilityHP:0001249
  • MacroglossiaHP:0000158
  • Skeletal dysplasiaHP:0002652
  • SplenomegalyHP:0001744
  • Type II diabetes mellitusHP:0005978

Frequent (79-30%)(17)

  • Abnormal helix morphologyHP:0011039
  • Atypical behaviorHP:0000708
  • Bowing of the long bonesHP:0006487
  • Chronic otitis mediaHP:0000389
  • Generalized abnormality of skinHP:0011354
  • Gingival overgrowthHP:0000212
  • Hip dysplasiaHP:0001385
  • HypertelorismHP:0000316
  • HypotoniaHP:0001252
  • Inguinal herniaHP:0000023
  • KyphosisHP:0002808
  • MacrotiaHP:0000400
  • Narrow palateHP:0000189
  • Open biteHP:0010807
  • Prominent supraorbital ridgesHP:0000336
  • ScoliosisHP:0002650
  • Short neckHP:0000470

Occasional (29-5%)(11)

  • ArthritisHP:0001369
  • Avascular necrosisHP:0010885
  • Dental malocclusionHP:0000689
  • HallucinationsHP:0000738
  • Increased intracranial pressureHP:0002516
  • MacrocephalyHP:0000256
  • Mandibular prognathiaHP:0000303
  • Mongolian blue spotHP:0011369
  • Recurrent respiratory infectionsHP:0002205
  • Synostosis of jointsHP:0100240
  • Widely spaced teethHP:0000687