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Classic galactosemia
ORPHA:79239 · Disease · Disorder
HPO 表現型（共 54 項）
Very frequent (99-80%)(4)
- Abnormal circulating enzyme concentration or activityHP:0012379
- Abnormal erythrocyte enzyme concentration or activityHP:0030272
- Abnormality of the nervous systemHP:0000707
- Male infertilityHP:0003251
Frequent (79-30%)(24)
- Abnormality of coagulationHP:0001928
- Action tremorHP:0002345
- CataractHP:0000518
- Decreased circulating insulin-like growth factor 1 concentrationHP:0030353
- Decreased fertility in femalesHP:0000868
- Deficit in grammarHP:0006977
- Delayed pubertyHP:0000823
- Delayed speech and language developmentHP:0000750
- Elevated circulating hepatic transaminase concentrationHP:0002910
- Food intoleranceHP:0012537
- Global developmental delayHP:0001263
- Hepatic failureHP:0001399
- HepatomegalyHP:0002240
- JaundiceHP:0000952
- Mental deteriorationHP:0001268
- Mild intellectual disabilityHP:0001256
- OligomenorrheaHP:0000876
- Postural tremorHP:0002174
- Premature ovarian insufficiencyHP:0008209
- Primary amenorrheaHP:0000786
- Secondary amenorrheaHP:0000869
- Specific learning disabilityHP:0001328
- Speech articulation difficultiesHP:0009088
- VomitingHP:0002013
Occasional (29-5%)(25)
- Abnormality of mental functionHP:0011446
- AnxietyHP:0000739
- AtaxiaHP:0001251
- Attention deficit hyperactivity disorderHP:0007018
- Autistic behaviorHP:0000729
- Bone fractureHP:0020110
- ClumsinessHP:0002312
- CryptorchidismHP:0000028
- Decreased circulating vitamin D concentrationHP:0100512
- DepressionHP:0000716
- DiarrheaHP:0002014
- DysarthriaHP:0001260
- DystoniaHP:0001332
- EncephalopathyHP:0001298
- Feeding difficultiesHP:0011968
- Gait disturbanceHP:0001288
- Gait imbalanceHP:0002141
- HypoglycemiaHP:0001943
- IncoordinationHP:0002311
- LethargyHP:0001254
- OsteoporosisHP:0000939
- Reduced bone mineral densityHP:0004349
- SeizureHP:0001250
- SepsisHP:0100806
- Speech apraxiaHP:0011098
Very rare (<4-1%)(1)
- AscitesHP:0001541