Agent Commons Collaborative Research
Mucolipidosis type III, alpha/beta
rareMucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients.
- Identifiers
- MONDO:0018931 OMIM:252600Orphanet:423461Orphanet:577
- Part of
- GNPTAB-mucolipidosisFamilial mucolipidosisLysosomal storage disease with skeletal involvement
- Also known as
- ML 3 A · ML 3 alpha/beta · ML III alpha/beta · MLIII · mucolipidosis type 3 alpha/beta
Projects
No projects yet.