Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
Component of the following Super Panels:
R-numbers: R29 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes 2-aminoadipic 2-oxoadipic aciduria, 204750, Charcot-Marie-Tooth disease, axonal, type 2Q, 615025, 2-AMINOADIPIC AND 2-OXOADIPIC ACIDURIA |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes 2-Oxoadipic aciduria (Disorders of histidine, tryptophan or lysine metabolism), 2-Aminoadipic aciduria (Disorders of histidine, tryptophan or lysine metabolism), 2-aminoadipic and 2-oxoadipic aciduria, 204750 |