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Metadata
ID DOID:0070133
Name autosomal recessive cutis laxa type IB
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.
https://www.ncbi.nlm.nih.gov/pubmed/16685658, https://www.ncbi.nlm.nih.gov/pubmed/19664000
Xrefs

ICD10CM:Q82.8

OMIM:614437

Synonyms

ARCL1B [EXACT]

Parent Relationships

is_a autosomal recessive cutis laxa type I

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