autosomal recessive cutis laxa type IIC (Q50349706)
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autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has material basis in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11
- ARCL2C
- CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC; ARCL2C
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | autosomal recessive cutis laxa type IIC |
autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has material basis in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11 |
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