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Autosomal recessive cutis laxa type 2A

MONDO:0018163

An autosomal recessive cutis laxa type II classic type that has material basis in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24.

Also known as: ARCL2A, autosomal recessive cutis laxa type 2A, cutis laxa with Joint laxity and retarded development, cutis laxa with bone dystrophy, cutis laxa with congenital disorder of glycosylation, cutis laxa with growth and developmental delay, cutis laxa, autosomal recessive type 2A, cutis laxa, autosomal recessive, type 2A

0 clinical trials for this condition and its sub-types, 0 tagged with Autosomal recessive cutis laxa type 2A itself.

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↑ Hereditary skin disorder (885) ↑ Osteogenesis imperfecta and a reduction of bone mineral density. (308) ↑ Autosomal recessive cutis laxa type 2 (0)

Sub-types of Autosomal recessive cutis laxa type 2A

Wrinkly skin syndrome 0 trials

Including sub-types (0) Tagged with Autosomal recessive cutis laxa type 2A (0)

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