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| Mucopolysaccharidosis type IH or S v1.2 | IDUA | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #607014, #607015 & #607016) and the OMIM records were last accessed on 20 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mucopolysaccharidosis type IH or S v1.2 | IDUA | Achchuthan Shanmugasundram Phenotypes for gene: IDUA were changed from to Mucopolysaccharidosis Ih, OMIM:607014; Mucopolysaccharidosis Ih/s, OMIM:607015; Mucopolysaccharidosis Is, OMIM:607016; Hurler syndrome, MONDO:0011758; Hurler-Scheie syndrome, MONDO:0011759; Scheie syndrome, MONDO:0011760 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mucopolysaccharidosis type IH or S v0.1 | IDUA | Achchuthan Shanmugasundram reviewed gene: IDUA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mucopolysaccharidosis type IH or S v0.1 | IDUA |
Achchuthan Shanmugasundram gene: IDUA was added gene: IDUA was added to Mucopolysaccharidosis type IH/S. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal |
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