Gene | Clinical feature | Phenotype |
---|---|---|
NIPAL4 | Collodion baby, Ectropion, Folds involvement, Palmoplantar hyperkeratosis | CIE, LI |
TGM1 | Brachydactyly, Collodion baby, Ectropion, Folds involvement, Palmoplantar hyperkeratosis, Ears malformation, Alopecia | CIE, LI |
CYP4F22 | Collodion baby, Palmoplantar hyperkeratosis | LI |
CERS3(ADAM17) | Brachydactyly, Folds involvement, Palmoplantar hyperkeratosis | CIE• |