Term Name:	autosomal recessive cutis laxa type IB
Synonyms:	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.
Ontology:	Human Disease [DOID:0070133]   ( DOID:0070133 )