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Hyperlysinemia
ORPHA:2203 · Disease · Disorder
HPO 表現型（共 57 項）
Frequent (79-30%)(22)
- Abnormal circulating enzyme concentration or activityHP:0012379
- Abnormal CSF ornithine concentrationHP:0500243
- ArgininuriaHP:0003268
- Atypical behaviorHP:0000708
- CystinuriaHP:0003131
- Decreased CSF arginine concentrationHP:0500204
- Decreased urine alpha-ketoglutarate concentrationHP:0012403
- Delayed speech and language developmentHP:0000750
- EEG with spike-wave complexesHP:0010850
- Floppy infantHP:0008947
- Global developmental delayHP:0001263
- HyperammonemiaHP:0001987
- HyperlysinemiaHP:0002161
- HyperlysinuriaHP:0003297
- HypoornithinemiaHP:0500163
- Increased CSF lysine concentrationHP:0500208
- Intellectual disabilityHP:0001249
- MicrocephalyHP:0000252
- Neurodevelopmental delayHP:0012758
- SeizureHP:0001250
- Short attention spanHP:0000736
- Short statureHP:0004322
Occasional (29-5%)(35)
- Abnormal facial shapeHP:0001999
- Abnormality of movementHP:0100022
- Borderline intellectual disabilityHP:0006889
- Brisk reflexesHP:0001348
- ClumsinessHP:0002312
- CraniosynostosisHP:0001363
- Depressed nasal ridgeHP:0000457
- DysmetriaHP:0001310
- DysphagiaHP:0002015
- Failure to thriveHP:0001508
- Feeding difficultiesHP:0011968
- Gastroesophageal refluxHP:0002020
- High palateHP:0000218
- HyperactivityHP:0000752
- Hypoplasia of the antihelixHP:0009739
- Hypoplastic helicesHP:0008589
- HypotelorismHP:0000601
- Mild global developmental delayHP:0011342
- Nasogastric tube feedingHP:0040288
- Neck hypertoniaHP:0031867
- OpisthotonusHP:0002179
- Poor motor coordinationHP:0002275
- Poor suckHP:0002033
- Pulmonary artery hypoplasiaHP:0004971
- Recurrent pneumoniaHP:0006532
- Simple febrile seizureHP:0011171
- Smooth philtrumHP:0000319
- Spastic diplegiaHP:0001264
- Spastic tetraparesisHP:0001285
- StrabismusHP:0000486
- Thin eyebrowHP:0045074
- Tip-toe gaitHP:0030051
- TremorHP:0001337
- Upgaze palsyHP:0025331
- VomitingHP:0002013