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GTR Home > Conditions/Phenotypes > Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities

Summary

Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities (NEDSHBA) is an autosomal recessive neurodevelopmental disorder characterized by global developmental delay, severe to profound intellectual impairment, early-onset refractory seizures, hypotonia, failure to thrive, and progressive microcephaly. Brain imaging shows cerebral atrophy, thin corpus callosum, and myelination defects. Death in childhood may occur (summary by Marafi et al., 2020). [from OMIM]

Available tests

3 tests are in the database for this condition.

Genes See tests for all associated and related genes

  • Also known as: GLUR7, GPRC1G, MGLU7, MGLUR7, NEDSHBA, PPP1R87, GRM7
    Summary: glutamate metabotropic receptor 7

Clinical features

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