lamellar ichthyosis

Findings

No curated finding names lamellar ichthyosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• eye disorder
• hereditary skin disorder

Narrower terms (6)

• autosomal recessive congenital ichthyosis 3
• autosomal recessive congenital ichthyosis 4A
• autosomal recessive congenital ichthyosis 5
• autosomal recessive congenital ichthyosis 6
• autosomal recessive congenital ichthyosis 8
• ichthyosis, lamellar, autosomal dominant

Resolves to: lamellar ichthyosis

Also called

classic lamellar ichthyosiscongenital lamellar ichthyosisLI