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Galactose epimerase deficiency
ORPHA:79238 · Disease · Disorder
HPO 表現型（共 13 項）
Very frequent (99-80%)(13)
- AminoaciduriaHP:0003355
- CataractHP:0000518
- Feeding difficultiesHP:0011968
- Global developmental delayHP:0001263
- Growth delayHP:0001510
- HepatomegalyHP:0002240
- HypotoniaHP:0001252
- Impairment of galactose metabolismHP:0004915
- Intellectual disabilityHP:0001249
- JaundiceHP:0000952
- Nausea and vomitingHP:0002017
- SplenomegalyHP:0001744
- Weight lossHP:0001824