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autosomal recessive cutis laxa type IB
Summary
- Synonym
-
- ARCL1B
- Definition
- An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13.
- Super Class
- autosomal recessive cutis laxa type I
External Links
- Disease Ontology
- DOID:0070133
- Mondo Disease Ontology
- OMIM
