Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
R-numbers: R57 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hyperekplexia 2 OMIM:614619, hyperekplexia 2 MONDO:0013828 |
R-numbers: R54 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hyperekplexia 2 OMIM:614619, hyperekplexia 2 MONDO:0013828 |
R-numbers: R66 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hyperekplexia 2 OMIM:614619, hyperekplexia 2 MONDO:0013828 |
Green in Recurrent episodic apnoeaR-numbers: R434 Signed-off version 1.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hyperekplexia 2, OMIM:614619 |