Variants
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PYCR1-related de Barsy syndrome

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Description

De Barsy syndrome, also known as autosomal recessive cutis laxa type III (ARCL3), is a rare autosomal recessive disorder characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, intrauterine growth retardation (IUGR), and cutis laxa (summary by Lin et al., 2011). For a phenotypic description and a discussion of genetic heterogeneity of de Barsy syndrome, see 219150. For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see 219200.

OMIM

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

6

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Genes

External Links

  • OMIM

    614438

  • Orphanet

    293633

  • HPO
  • Medgen

    C3280799

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