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GTR Home > Conditions/Phenotypes > Cutis laxa, autosomal dominant 3

Cutis laxa, autosomal dominant 3

Summary

Autosomal dominant cutis laxa-3 (ADCL3) is characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, and moderate intellectual disability. In addition, patients exhibit a combination of muscular hypotonia with brisk muscle reflexes (Fischer-Zirnsak et al., 2015). For a general phenotypic description and discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ARCL1 (123700). [from OMIM]

Available tests

43 tests are in the database for this condition.

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Clinical tests (43 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ADCL3, ARCL3A, GSAS, P5CS, PYCS, SPG9, SPG9A, SPG9B, ALDH18A1
    Summary: aldehyde dehydrogenase 18 family member A1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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