eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | encephalopathy |
| Comorbidity | C0159020|neonatal convulsions |
| Sentences | 1 |
| PubMedID- 25709896 | Moco deficiency (mocd) causes a severe progressive metabolic encephalopathy with neonatal convulsions, spasticity, opisthotonus, brain atrophy, altered facial morphology and severe developmental disability, spherophakia and dislocated lenses in survivors, associated with deficiency of both xanthine oxidase and sulfite oxidase. |
Page: 1