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Ataxia - paediatric v0.344 MMACHC Zornitza Stark Tag treatable tag was added to gene: MMACHC.
Ataxia - paediatric v0.0 MMACHC Bryony Thompson gene: MMACHC was added
gene: MMACHC was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria cblC type, 277400; Methylmalonic aciduria and homocystinuria, cblC type, 277400; Ataxia and hypogonadism