HPCA

PanelMode of inheritanceDetails
2 panels
R-numbers: R56
Signed-off version 1.121
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dystonia 2, torsion, autosomal recessive, OMIM:224500
R-numbers: R57
Signed-off version 1.137
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
adolescence-onset segmental dystonia, generalized dystonia with additional neurological features, Dystonia 2, torsion, autosomal recessive, 224500, childhood-onset generalized dystonia