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Cutis laxa, autosomal recessive, type 1A
MONDO:0009052An autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32.
Also known as: ARCL1, ARCL1A, autosomal recessive cutis laxa type IA, cutis laxa, autosomal recessive, cutis laxa, autosomal recessive, type IA
5 clinical trials for this condition and its sub-types.
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Disease
(618)
Hereditary disease
(172)
Cutis laxa
(28)
Human disease
(14)
Developmental defect during embryogenesis
(7)
Autosomal recessive disease
(4)
Disease of genetic or genomic mechanism
(2)
Autosomal recessive cutis laxa type 1
(1)
Autosomal genetic disease
(0)
Disease by body system or component
(0)