| Disease ID | Source | Name | Description |
| 269920 | OMIM | Infantile sialic acid storage disorder (ISSD) | Severe form of sialic acid storage disease. Affected newborns exhibit visceromegaly, coarse features and failure to thrive immediately after birth. These patients have a shortened life span, usually less than 2 years. The disease is caused by variants affecting the gene represented in this entry. |
| 604369 | OMIM | Salla disease (SD) | Sialic acid storage disease (SASD). SASDs are autosomal recessive neurodegenerative disorders characterized by hypotonia, cerebellar ataxia and mental retardation. They are caused by a defect in the metabolism of sialic acid which results in increased urinary excretion of unconjugated sialic acid, specifically N-acetylneuraminic acid. Enlarged lysosomes are seen on electron microscopic studies. Clinical symptoms of SD present usually at age less than 1 year and progression is slow. The disease is caused by variants affecting the gene represented in this entry. |