Term Name: | autosomal recessive cutis laxa type IA |
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Synonyms: | 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. |
Ontology: | Human Disease [DOID:0070135] ( DOID:0070135 ) |