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Neurodevelopmental disorder with speech delay and variable ocular anomalies

Summary

Neurodevelopmental disorder with speech delay and variable ocular anomalies (NEDSOA) is an autosomal recessive disorder characterized by global developmental delay with impaired intellectual development and poor speech acquisition apparent from infancy. Most affected individuals have dysmorphic facial features with notable ocular anomalies, including exotropia, strabismus, hypo- or hypertropia, and refraction problems. Additional features may include febrile seizures, sensorineural hearing loss, and behavioral abnormalities. Brain imaging is usually normal, but abnormalities of the corpus callosum have been reported (Broly et al., 2022). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: NEDSOA, Tan1, THUMPD1
    Summary: THUMP domain containing 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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