← 返回搜尋

Sarcosinemia

ORPHA:3129 · Disease · Disorder

HPO 表現型（共 22 項）

Obligate (100%)(1)

  • HypersarcosinemiaHP:0010896

Very frequent (99-80%)(1)

  • HypersarcosinuriaHP:0010897

Occasional (29-5%)(20)

  • Abnormality of movementHP:0100022
  • AtaxiaHP:0001251
  • Bilateral tonic-clonic seizureHP:0002069
  • Congenital blindnessHP:0007875
  • DyslexiaHP:0010522
  • Emotional labilityHP:0000712
  • Floppy infantHP:0008947
  • Global developmental delayHP:0001263
  • Hypertrophic cardiomyopathyHP:0001639
  • Infantile sensorineural hearing impairmentHP:0008610
  • Loss of speechHP:0002371
  • Mild intellectual disabilityHP:0001256
  • Motor delayHP:0001270
  • Optic atrophyHP:0000648
  • Peroneal muscle weaknessHP:0011727
  • Poor speechHP:0002465
  • Pulmonic stenosisHP:0001642
  • Sleep disturbanceHP:0002360
  • StrabismusHP:0000486
  • TetraparesisHP:0002273