| Disease ID | Source | Name | Description |
| 277400 | OMIM | Methylmalonic aciduria and homocystinuria, cblC type (MAHCC) | An autosomal recessive disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood. The disease is caused by variants affecting the gene represented in this entry. |