← 返回搜尋

Aspartylglucosaminuria

ORPHA:93 · Disease · Disorder

HPO 表現型（共 43 項）

Very frequent (99-80%)(17)

  • Abnormal facial shapeHP:0001999
  • Abnormal speech patternHP:0002167
  • Abnormality of amino acid metabolismHP:0004337
  • AspartylglucosaminuriaHP:0012068
  • Delayed speech and language developmentHP:0000750
  • DyskinesiaHP:0100660
  • Gingival overgrowthHP:0000212
  • HypertelorismHP:0000316
  • Intellectual disabilityHP:0001249
  • Large faceHP:0100729
  • Mandibular prognathiaHP:0000303
  • MicrotiaHP:0008551
  • ScoliosisHP:0002650
  • Short noseHP:0003196
  • Thick vermilion borderHP:0012471
  • Umbilical herniaHP:0001537
  • Wide nasal bridgeHP:0000431

Frequent (79-30%)(10)

  • Abnormal cortical bone morphologyHP:0003103
  • Abnormal morphology of ulnaHP:0040071
  • Abnormality of the dentitionHP:0000164
  • Anterior beaking of lumbar vertebraeHP:0008430
  • Carious teethHP:0000670
  • Coarse facial featuresHP:0000280
  • MacroglossiaHP:0000158
  • MacroorchidismHP:0000053
  • Pectus carinatumHP:0000768
  • Thickened calvariaHP:0002684

Occasional (29-5%)(16)

  • Abnormal vertebral morphologyHP:0003468
  • ArthritisHP:0001369
  • Atypical behaviorHP:0000708
  • Beaking of vertebral bodiesHP:0004568
  • Chronic otitis mediaHP:0000389
  • Delayed skeletal maturationHP:0002750
  • HepatomegalyHP:0002240
  • Inguinal herniaHP:0000023
  • Joint stiffnessHP:0001387
  • MalabsorptionHP:0002024
  • Pes planusHP:0001763
  • Recurrent respiratory infectionsHP:0002205
  • SeizureHP:0001250
  • Sleep disturbanceHP:0002360
  • SplenomegalyHP:0001744
  • Vascular skin abnormalityHP:0011276