← 返回搜尋

Free sialic acid storage disease

ORPHA:834 · Disease · Disorder

HPO 表現型（共 30 項）

Very frequent (99-80%)(10)

  • Abnormal foot morphologyHP:0001760
  • Abnormal pyramidal signHP:0007256
  • Aplasia/Hypoplasia of the abdominal wall musculatureHP:0010318
  • AtaxiaHP:0001251
  • Gait disturbanceHP:0001288
  • Global developmental delayHP:0001263
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • NystagmusHP:0000639
  • SpasticityHP:0001257

Frequent (79-30%)(16)

  • Abnormal facial shapeHP:0001999
  • Abnormal skin pigmentationHP:0001000
  • Abnormal speech patternHP:0002167
  • Abnormality of the upper limbHP:0002817
  • AscitesHP:0001541
  • AthetosisHP:0002305
  • DysarthriaHP:0001260
  • Failure to thrive in infancyHP:0001531
  • Hydrops fetalisHP:0001789
  • Iris hypopigmentationHP:0007730
  • Oculomotor apraxiaHP:0000657
  • Recurrent respiratory infectionsHP:0002205
  • Reduced bone mineral densityHP:0004349
  • SeizureHP:0001250
  • Skeletal dysplasiaHP:0002652
  • Skin ulcerHP:0200042

Occasional (29-5%)(4)

  • HepatomegalyHP:0002240
  • Nephrotic syndromeHP:0000100
  • ProteinuriaHP:0000093
  • SplenomegalyHP:0001744