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Autosomal recessive congenital ichthyosis 4A
rareAny autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ABCA12 gene.
- Identifiers
- MONDO:0011026 OMIM:601277
- Causal genes
- ABCA12
- Also known as
- ARCI4A · autosomal recessive congenital ichthyosis type 4A · ichthyosis lamellar 2 · ichthyosis, congenital, autosomal recessive 4A · ichthyosis, congenital, autosomal recessive type 4A
Subtypes
| Disease | Subtypes |
|---|---|
| Autosomal recessive congenital ichthyosis 4B |
Rare disease
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