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.

Synonyms

ARCL1B

Cross References

Parent Terms

autosomal recessive cutis laxa type I

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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autosomal recessive cutis laxa type IB

autosomal recessive cutis laxa type IB

Associated Genes

Associated Alleles

Associated Models