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GTR Home > Conditions/Phenotypes > Restrictive dermopathy 1

Summary

A restrictive dermopathy that has material basis in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34. [from MONDO]

Genes See tests for all associated and related genes

  • Also known as: FACE-1, FACE1, HGPS, PRO1, RSDM1, STE24, Ste24p, ZMPSTE24
    Summary: zinc metallopeptidase STE24

Clinical features

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