Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
R-numbers: R58 Signed-off version 5.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Spinal muscular atrophy, distal, autosomal recessive, 5, OMIM:614881, young adult-onset distal hereditary motor neuropathy, MONDO:0013947 |
R-numbers: R78 Signed-off version 4.11 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hereditary Neuropathies |