| Disease ID | Source | Name | Description |
| 230000 | OMIM | Fucosidosis (FUCA1D) | An autosomal recessive lysosomal storage disease characterized by accumulation of fucose-containing glycolipids and glycoproteins in various tissues. Clinical signs include facial dysmorphism, dysostosis multiplex, moderate hepatomegaly, severe intellectual deficit, deafness, and according to age, angiokeratomas. The disease is caused by variants affecting the gene represented in this entry. |