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| Likely inborn error of metabolism - targeted testing not possible v1.47 | SGSH |
Ivone Leong Source NHS GMS was added to SGSH. Source London North GLH was added to SGSH. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | SGSH |
Ellen McDonagh gene: SGSH was added gene: SGSH was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SGSH were set to 27604308 Phenotypes for gene: SGSH were set to Mucopolysaccharidosis Type III; Mucopolysaccharidosis, Type III; Mucopolysaccharidosis Type IIIA; MPS IIIA, Sanfilippo A disease (Mucopolysaccharidoses); MUCOPOLYSACCHARIDOSIS TYPE 3A |
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