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Neurodevelopmental disorder with hypotonia, microcephaly, and seizures

Summary

Neurodevelopmental disorder with hypotonia, microcephaly, and seizures (NEDHYMS) is an autosomal recessive disorder characterized by global developmental delay with axial hypotonia, inability to sit or walk, and severely impaired intellectual development with absent language. Most patients develop early-onset intractable seizures that prevent normal development. Additional features include feeding difficulties with poor overall growth and microcephaly. Some patients may have spastic quadriplegia, poor eye contact due to cortical blindness, variable dysmorphic features, and nonspecific abnormalities on brain imaging (summary by Tan et al., 2020). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: ADAR2, DRABA2, DRADA2, NEDHYMS, RED1, ADARB1
    Summary: adenosine deaminase RNA specific B1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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