Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, OMIM:614053, mitochondrial complex V (ATP synthase) deficiency nuclear type 3, MONDO:0013547 |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, OMIM:614053, mitochondrial complex V (ATP synthase) deficiency nuclear type 3, MONDO:0013547 |