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GTR Home > Conditions/Phenotypes > Neurodevelopmental disorder with spasticity and poor growth

Neurodevelopmental disorder with spasticity and poor growth

Summary

Neurodevelopmental disorder with spasticity and poor growth (NEDSG) is an autosomal recessive disorder characterized by severe early-onset encephalopathy with progressive microcephaly (Nahorski et al., 2018). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HSPC155, NEDSG, UFC1
    Summary: ubiquitin-fold modifier conjugating enzyme 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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