← 返回搜尋

Dicarboxylic aminoaciduria

ORPHA:2195 · Disease · Disorder

HPO 表現型（共 6 項）

Very frequent (99-80%)(2)

  • Aspartic aciduriaHP:0032401
  • Increased urine glutamate levelHP:0033094

Occasional (29-5%)(4)

  • Intellectual disabilityHP:0001249
  • Kidney stoneHP:0000787
  • Obsessive-compulsive traitHP:0008770
  • SchizophreniaHP:0100753