Cutis laxa, autosomal recessive, type 1B
MONDO:0013754An 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.
Also known as: ARCL1B, autosomal recessive cutis laxa type IB, cutis laxa, autosomal recessive, type IB
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Disease
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Hereditary disease
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Cutis laxa
(37)
Human disease
(14)
Developmental defect during embryogenesis
(8)
Autosomal recessive disease
(4)
Disease of genetic or genomic mechanism
(2)
Autosomal recessive cutis laxa type 1
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Autosomal genetic disease
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Disease by body system or component
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