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Scheie syndrome
rareScheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.
- Identifiers
- MONDO:0011760 OMIM:607016Orphanet:93474
- Causal genes
- IDUA
- Part of
- Lysosomal storage disease with skeletal involvementMucopolysaccharidosis type 1Syndromic disease
- Also known as
- MPS I S · MPS1-S · MPS1S · MPS5, formerly · MPSIS
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