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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 |