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GTR Home > Conditions/Phenotypes > Polydactyly, postaxial, type a7

Polydactyly, postaxial, type a7

Summary

Postaxial polydactyly type A7 (PAPA7) is an autosomal recessive disorder characterized by postaxial polydactyly and brachydactyly of the hands and/or feet. Features reported in some patients include syndactyly of the second and third digits of the feet, learning disabilities, and increased body weight (Umair et al., 2017; Estrada-Cuzcano et al., 2020). For a discussion of genetic heterogeneity of postaxial polydactyly, see 174200. [from OMIM]

Available tests

2 tests are in the database for this condition.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: 1700028P05Rik, PAPA7, IQCE
    Summary: IQ motif containing E

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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