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Autism spectrum disorder - epilepsy - arthrogryposis syndrome

Summary

Arthrogryposis, impaired intellectual development, and seizures (AMRS) is an autosomal recessive disorder characterized by skeletal abnormalities, including arthrogryposis, short limbs, and vertebral malformations, impaired intellectual development, and seizures consistent with early-onset epileptic encephalopathy in some patients. Other features may include cleft palate, micrognathia, posterior embryotoxon, talipes valgus, rocker-bottom feet, and dysmorphic facies (Edmondson et al., 2017; Marini et al., 2017). [from OMIM]

Available tests

35 tests are in the database for this condition.

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Clinical tests (35 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AMRS, SLC35A3
    Summary: solute carrier family 35 member A3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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