← 返回搜尋

Severe Canavan disease

ORPHA:314911 · Clinical subtype · Subtype of disorder

HPO 表現型（共 34 項）

Very frequent (99-80%)(11)

  • Absent speechHP:0001344
  • Elevated brain N-acetyl aspartate level by MRSHP:0025053
  • Elevated urine N-acetylaspartic acid levelHP:0034649
  • Functional motor deficitHP:0004302
  • Global developmental delayHP:0001263
  • HypotoniaHP:0001252
  • Inability to walkHP:0002540
  • MacrocephalyHP:0000256
  • Motor delayHP:0001270
  • Poor head controlHP:0002421
  • Visual fixation instabilityHP:0025405

Frequent (79-30%)(16)

  • Babinski signHP:0003487
  • Bilateral tonic-clonic seizureHP:0002069
  • Cerebral white matter atrophyHP:0012762
  • Feeding difficultiesHP:0011968
  • Gastroesophageal refluxHP:0002020
  • HyperreflexiaHP:0001347
  • IrritabilityHP:0000737
  • Joint stiffnessHP:0001387
  • LethargyHP:0001254
  • Optic atrophyHP:0000648
  • Oral-pharyngeal dysphagiaHP:0200136
  • Poor suckHP:0002033
  • SeizureHP:0001250
  • Sleep disturbanceHP:0002360
  • VomitingHP:0002013
  • Weak cryHP:0001612

Occasional (29-5%)(4)

  • BlindnessHP:0000618
  • MegalencephalyHP:0001355
  • Nasogastric tube feedingHP:0040288
  • SpasticityHP:0001257

Very rare (<4-1%)(3)

  • Decerebrate rigidityHP:0025013
  • Gastrostomy tube feeding in infancyHP:0011471
  • Pseudobulbar signsHP:0002200