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Neurodevelopmental disorder with hearing loss and spasticity

Summary

Neurodevelopmental disorder with hearing loss and spasticity (NEDHLS) is characterized by hearing loss, global developmental delay/impaired intellectual development, spastic-dystonic cerebral palsy, focal or generalized epilepsy, and microcephaly. Some children present with hypotonia (Richard et al., 2021). [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: DFNB119, NEDHLS, SPATA5L1, AFG2B
    Summary: AFG2 AAA ATPase homolog B

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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