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GTR Home > Conditions/Phenotypes > Cutis laxa with osteodystrophy

Summary

Excerpted from the GeneReview: ATP6V0A2-Related Cutis Laxa
ATP6V0A2-related cutis laxa is characterized by generalized cutis laxa, findings associated with generalized connective tissue disorder, developmental delays, and a variety of neurologic findings including abnormality on brain MRI. At birth, hypotonia, overfolded skin, and distinctive facial features are present and enlarged fontanelles are often observed. During childhood, the characteristic facial features and thick or coarse hair may become quite pronounced. The skin findings decrease with age, although easy bruising and Ehlers-Danlos-like scars have been described in some. In most (not all) affected individuals, cortical and cerebellar malformations are observed on brain MRI. Nearly all affected individuals have developmental delays, seizures, and neurologic regression.

Available tests

70 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: A2, ARCL, ARCL2A, ATP6A2, ATP6N1D, J6B7, RTF, STV1, TJ6, TJ6M, TJ6S, VPH1, WSS, a2V, ATP6V0A2
    Summary: ATPase H+ transporting V0 subunit a2

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