Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes PITUITARY DWARFISM II 262500 |
Green in Growth failure in early childhoodR-numbers: R147 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Laron dwarfism, OMIM:262500 |
Green in Pituitary hormone deficiencyR-numbers: R159 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Laron dwarfism, OMIM:262500, Growth hormone insensitivity, partial, OMIM:604271, Increased responsiveness to growth hormone, OMIM:604271 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 4.31 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Laron dwarfism, OMIM:262500, Growth hormone insensitivity, partial, OMIM:604271, Increased responsiveness to growth hormone, OMIM:604271 |