Variants
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Autosomal recessive cutis laxa type 2B

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Description

The phenotype of autosomal recessive cutis laxa type II (ARCL2) includes cutis laxa of variable severity, abnormal growth, developmental delay, and associated skeletal abnormalities (summary by Morava et al., 2009). No specific clinical features distinguish ARCL2A (219200), which includes a glycosylation defect, and ARCL2B, in which abnormal glycosylation has not been reported (Morava et al., 2009; Guernsey et al., 2009). For a phenotypic description and discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (219100).

OMIM

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

17

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Genes

External Links

  • OMIM

    612940

  • Orphanet

    357064

  • HPO
  • Medgen

    C2751987

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