Autosomal recessive congenital ichthyosis 5

MONDO:0011485

An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has material basis in homozygous mutation in the CYP4F22 gene on chromosome 19p13.

Also known as: ARCI5, autosomal recessive congenital ichthyosis 5, autosomal recessive congenital ichthyosis type 5, ichthyosis, congenital, autosomal recessive type 5, LI3, formerly, NNCI, ichthyosis congenita 3, ichthyosis congenita III

19 clinical trials for this condition and its sub-types.

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