Panel | Mode of inheritance | Details |
---|---|---|
1 panel | ||
Component of the following Super Panels:
R-numbers: R29 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Woolly hair, Abnormality of the liver, Global developmental delay, Intellectual disability, Trichohepatoneurodevelopmental syndrome, 618268 |