autosomal recessive cutis laxa type IB

Term ID

DOID:0070133

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. (2)

References

• ICD10CM:Q82.8
• MIM:614437

Ontology

Human Disease   ( DOID:0070133 )