autosomal recessive epidermolytic ichthyosis

Findings

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

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

• autosomal recessive disease
• epidermolytic ichthyosis

Narrower terms (1)

• epidermolytic hyperkeratosis 2B, autosomal recessive

Resolves to: autosomal recessive epidermolytic ichthyosis

Also called

AREI