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Skeletal dysplasia v1.153 | DHODH | Eleanor Williams Added phenotypes Miller syndrome (postaxial acrofacial dysostosis) 263750 for gene: DHODH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | DHODH | Tracy Lester reviewed gene: DHODH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Miller syndrome (postaxial acrofacial dysostosis) 263750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | DHODH | Eleanor Williams reviewed gene: DHODH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | DHODH |
Eleanor Williams Source NHS GMS was added to DHODH. Rating Changed from Green List (high evidence) to Green List (high evidence) |