Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
R-numbers: R78 Signed-off version 3.66 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes pain, paresthesias, anaesthesia, Multifocal relapsing mononeuropathies. Orange tonsils, organomegaly, Tangier disease, 205400 |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.78 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Tangier disease (Disorders of high density lipoprotein metabolism) |