CLDN1

PanelMode of inheritanceDetails
3 panels
Green
in Cholestasis
R-numbers: R171
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ichthyosis-hypotrichosis-sclerosing cholangitis, Ichthyosis, leukocyte vacuoles, alopecia and sclerosing cholangitis, 607626, Neonatal and Adult Cholestasis, NISCH syndrome, Neonatal ichthyosis sclerosing cholangitis (NISCH) syndrome
R-numbers: R165
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, OMIM:607626
R-numbers: R166
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neonatal ichthyosis-sclerosing cholangitis syndrome