DST

PanelMode of inheritanceDetails
2 panels
R-numbers: R164
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epidermolysis bullosa simplex, autosomal recessive 2, OMIM:615425
R-numbers: R78
Signed-off version 4.11
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hereditary Sensory and Autonomic Neuropathy, Type VI, ?Neuropathy, hereditary sensory and autonomic, type VI