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Van Maldergem syndrome 1

Synonyms
Van Maldergem syndrome 1 (VMLDS1)

Summary

Van Maldergem syndrome is an autosomal recessive disorder characterized by intellectual disability, typical craniofacial features, auditory malformations resulting in hearing loss, and skeletal and limb malformations. Some patients have renal hypoplasia. Brain MRI typically shows periventricular nodular heterotopia (summary by Cappello et al., 2013). Genetic Heterogeneity of Van Maldergem Syndrome See also VMLDS2 (615546), caused by mutation in the FAT4 gene (612411) on chromosome 4q28. [from OMIM]

Available tests

19 tests are in the database for this condition.

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Clinical tests (19 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDH19, CDH25, CDHR6, FIB1, MMVP2, MVP2, PCDH16, VMLDS1, DCHS1
    Summary: dachsous cadherin-related 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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