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GTR Home > Conditions/Phenotypes > Al-Raqad syndrome

Al-Raqad syndrome

Summary

Al-Raqad syndrome (ARS) is a rare autosomal recessive disorder with a variable phenotype characterized by prenatal and postnatal growth retardation, craniofacial anomalies, skin dyschromia, intellectual disability, and neuromuscular defects (summary by Alesi et al., 2018). [from OMIM]

Available tests

3 tests are in the database for this condition.

Clinical tests (3 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ARS, DCS1, HINT-5, HINT5, HSL1, HSPC015, DCPS
    Summary: decapping enzyme, scavenger

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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