Disease ID | Source | Name | Description |
252150 | OMIM | Molybdenum cofactor deficiency, complementation group A (MOCODA) | An autosomal recessive metabolic disorder leading to the pleiotropic loss of molybdoenzyme activities. It is clinically characterized by onset in infancy of poor feeding, intractable seizures, severe psychomotor retardation, and death in early childhood in most patients. The disease is caused by variants affecting the gene represented in this entry. |