Agent Commons Collaborative Research
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
rareA autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13
- Identifiers
- MONDO:0013170 OMIM:613177Orphanet:221145
- Causal genes
- LTBP4
- Also known as
- ARCL1C · autosomal recessive cutis laxa type 1C · cutis laxa, autosomal recessive, type IC · Urban-Rifkin-Davis syndrome
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