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Citrullinemia type II
ORPHA:247585 · Disease · Disorder
HPO 表現型（共 46 項）
Very frequent (99-80%)(4)
- Acute hyperammonemiaHP:0008281
- Decreased body mass indexHP:0045082
- Elevated plasma citrullineHP:0011966
- Hepatic steatosisHP:0001397
Frequent (79-30%)(24)
- Abnormal eating behaviorHP:0100738
- Aggressive behaviorHP:0000718
- AsterixisHP:0012164
- ConfusionHP:0001289
- DeliriumHP:0031258
- DelusionHP:0000746
- DrowsinessHP:0002329
- Elevated circulating hepatic transaminase concentrationHP:0002910
- Fluctuations in consciousnessHP:0007159
- HallucinationsHP:0000738
- HepatomegalyHP:0002240
- HyperlipidemiaHP:0003077
- HypertriglyceridemiaHP:0002155
- HypoalbuminemiaHP:0003073
- HypoproteinemiaHP:0003075
- IrritabilityHP:0000737
- LethargyHP:0001254
- Memory impairmentHP:0002354
- Night sweatsHP:0030166
- RestlessnessHP:0000711
- SeizureHP:0001250
- Sleep disturbanceHP:0002360
- Sleep terrorHP:0030765
- TremorHP:0001337
Occasional (29-5%)(18)
- Cerebral edemaHP:0002181
- ComaHP:0001259
- Decreased circulating HDL-C concentrationHP:0003233
- Delayed menarcheHP:0012569
- DiarrheaHP:0002014
- EcholaliaHP:0010529
- EnuresisHP:0000805
- Global developmental delayHP:0001263
- Hepatic encephalopathyHP:0002480
- Hepatic fibrosisHP:0001395
- Hepatocellular carcinomaHP:0001402
- HyperactivityHP:0000752
- HypercholesterolemiaHP:0003124
- InsomniaHP:0100785
- ManiaHP:0100754
- PancreatitisHP:0001733
- PsychosisHP:0000709
- VomitingHP:0002013