Autosomal recessive congenital ichthyosis 10
Autosomal recessive congenital ichthyosis 10
Definition
Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the PNPLA1 gene.
Also known as ARCI10, autosomal recessive congenital ichthyosis type 10, ichthyosis, congenital, autosomal recessive type 10 — per MONDO