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GTR Home > Conditions/Phenotypes > Usmani-Riazuddin syndrome, autosomal recessive

Usmani-Riazuddin syndrome, autosomal recessive

Summary

Autosomal recessive Usmani-Riazzudin syndrome (USRISR) is a neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development and speech delay, hypotonia, spasticity, and behavioral abnormalities, most commonly aggressive behavior. More variable additional features may include seizures, scoliosis, and joint laxity (Usmani et al., 2021). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: ADTG, CLAPG1, USRISD, AP1G1
    Summary: adaptor related protein complex 1 subunit gamma 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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