| Disease ID | Source | Name | Description |
| 252160 | OMIM | Molybdenum cofactor deficiency, complementation group B (MOCODB) | An autosomal recessive metabolic disorder characterized by neonatal onset of intractable seizures, opisthotonus, and facial dysmorphism associated with hypouricemia and elevated urinary sulfite levels. Affected individuals show severe neurologic damage and often die in early childhood. The disease is caused by variants affecting the gene represented in this entry. |