| Panel | Mode of inheritance | Details |
|---|---|---|
3 panels | ||
R-numbers: R43 Signed-off version 1.5 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Blepharophimosis, ptosis, and epicanthus inversus, OMIM:110100, blepharophimosis, ptosis, and epicanthus inversus syndrome, MONDO:0007201 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 8.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS SYNDROME 110100 |
Component of the following Super Panels:
Signed-off version 8.8 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes |