autosomal recessive cutis laxa type IIB (Q50349703)
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A cutis laxa characterized by progeroid features that has material basis in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.3.
- ARCL2, progeroid type
- ARCL2B
- Cutis laxa with progeroid features
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | autosomal recessive cutis laxa type IIB |
A cutis laxa characterized by progeroid features that has material basis in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.3. |
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