| Disease ID | Source | Name | Description |
| 252500 | OMIM | Mucolipidosis type II (MLII) | Fatal, autosomal recessive, lysosomal storage disorder characterized by severe clinical and radiologic features, peculiar fibroblast inclusions, and no excessive mucopolysacchariduria. Congenital dislocation of the hip, thoracic deformities, hernia, and hyperplastic gums are evident soon after birth. The disease is caused by variants affecting the gene represented in this entry. |
| 252600 | OMIM | Mucolipidosis type III complementation group A (MLIIIA) | Autosomal recessive disease of lysosomal enzyme targeting. Clinically MLIII is characterized by restricted joint mobility, skeletal dysplasia, and short stature. Mildly coarsened facial features and thickening of the skin have been described. Cardiac valvular disease and corneal clouding may also occur. Half of the reported patients show learning disabilities or mental retardation. The disease is caused by variants affecting the gene represented in this entry. |