FOXL2

PanelMode of inheritanceDetails
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 DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
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:
  • - Paediatric disorders
Signed-off version 8.8
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes