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| Ataxia and cerebellar anomalies - narrow panel v0.53 | MMACHC | Louise Daugherty Phenotypes for gene: MMACHC were changed from Ataxia and hypogonadism (AR), Also Methylmalonic aciduria and homocystinuria (AR) (OMIM #277400) to Ataxia and hypogonadism; Methylmalonic aciduria and homocystinuria, cblC type, 277400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v0.52 | MMACHC | Louise Daugherty Publications for gene: MMACHC were set to PMID: 26283149 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v0.5 | MMACHC |
Ellen McDonagh gene: MMACHC was added gene: MMACHC was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMACHC were set to PMID: 26283149 Phenotypes for gene: MMACHC were set to Ataxia and hypogonadism (AR), Also Methylmalonic aciduria and homocystinuria (AR) (OMIM #277400) |
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