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GTR Home > Conditions/Phenotypes > Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity

Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity

Synonyms
VANDERVORE-SCHOT SYNDROME

Summary

Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity (NEDMCMS) is an autosomal recessive disorder characterized by severe to profound global developmental delay, early-onset seizures, microcephaly, and polymicrogyria and/or cerebral atrophy on brain imaging. Most affected individuals are unable to walk or speak and have profoundly impaired intellectual development, as well as axial hypotonia and peripheral spasticity. Rare individuals may be less severely affected (summary by Vandervore et al., 2019). [from OMIM]

Available tests

5 tests are in the database for this condition.

Clinical tests (5 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CGI-31, NEDMCMS, PDIA12, PIG26, TXNDC14, TMX2
    Summary: thioredoxin related transmembrane protein 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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