PedAM
Pediatric Disease Annotations & Medicines
| Disease | spastic paraparesis |
| Phenotype | C0268548|hyperargininemia |
| Sentences | 1 |
| PubMedID- 26467175 | Arg1-deficient patients exhibit hyperargininemia with spastic paraparesis, progressive neurological and intellectual impairment, persistent growth retardation, and infrequent episodes of hyperammonemia, a clinical pattern that differs strikingly from other urea cycle disorders. |
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