| Disease ID | Source | Name | Description |
| 253220 | OMIM | Mucopolysaccharidosis 7 (MPS7) | An autosomal recessive lysosomal storage disease characterized by inability to degrade glucuronic acid-containing glycosaminoglycans. The phenotype is highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment. The disease is caused by variants affecting the gene represented in this entry. |