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Methylmalonic acidemia with homocystinuria, type cblD
ORPHA:79283 · Clinical subtype · Subtype of disorder
HPO 表現型（共 12 項）
Very frequent (99-80%)(12)
- Abnormality of movementHP:0100022
- AnorexiaHP:0002039
- Atypical behaviorHP:0000708
- Failure to thriveHP:0001508
- FatigueHP:0012378
- Gait disturbanceHP:0001288
- Global developmental delayHP:0001263
- Intellectual disabilityHP:0001249
- LethargyHP:0001254
- Megaloblastic bone marrowHP:0001980
- PallorHP:0000980
- SeizureHP:0001250