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autosomal recessive cutis laxa type IA
Summary
- Synonym
-
- ARCL1A
- Definition
- An autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32.
- Super Class
- autosomal recessive cutis laxa type I
External Links
- Disease Ontology
- DOID:0070135
- Mondo Disease Ontology
- OMIM
