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Mucopolysaccharidosis type 4B
rareA rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta galactosidase. It is characterized by skeletal dysplasia and short stature.
- Identifiers
- MONDO:0009660 OMIM:253010Orphanet:309310
- Causal genes
- GLB1
- Also known as
- Beta-D-galactosidase deficiency · Morquio disease type B · Morquio syndrome B · MPS 4B · MPS IV B
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