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Dystonia - complex v0.101 MMADHC Zornitza Stark Marked gene: MMADHC as ready
Dystonia - complex v0.101 MMADHC Zornitza Stark Gene: mmadhc has been classified as Red List (Low Evidence).
Dystonia - complex v0.30 MMADHC Bryony Thompson gene: MMADHC was added
gene: MMADHC was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMADHC were set to 15292234; 18385497
Phenotypes for gene: MMADHC were set to Homocystinuria, cblD type, variant 1 MIM#277410
Review for gene: MMADHC was set to RED
Added comment: Single case reported with dystonia as a feature of the condition.
Sources: Expert list