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Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia

Summary

Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia (NEDDISH) is an autosomal recessive disorder characterized by global developmental delay and mildly to severely impaired intellectual development with poor speech and language acquisition. Some patients may have early normal development with onset of the disorder in the first years of life. More variable neurologic abnormalities include hypotonia, seizures, apnea, mild signs of autonomic or peripheral neuropathy, and autism. Aside from dysmorphic facial features and occasional findings such as scoliosis or undescended testes, other organ systems are not involved (summary by Schneeberger et al., 2020). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: DEEAH, DENN, IG20, NEDDISH, RAB3GEP, RabGEF, MADD
    Summary: MAP kinase activating death domain

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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