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Likely inborn error of metabolism - targeted testing not possible v1.47 MMADHC Ivone Leong Source NHS GMS was added to MMADHC.
Source London North GLH was added to MMADHC.
Likely inborn error of metabolism - targeted testing not possible v0.4 MMADHC Ellen McDonagh gene: MMADHC was added
gene: MMADHC was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMADHC were set to Homocystinuria, cblD type, variant 1