autosomal recessive cutis laxa type IIA (Q50349700)
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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
- ARCL2A
- Cutis laxa with osteodystrophy
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | autosomal recessive cutis laxa type IIA |
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 |
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