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GTR Home > Conditions/Phenotypes > Nystagmus, congenital, autosomal recessive

Nystagmus, congenital, autosomal recessive

Synonyms
Nystagmus, congenital motor, autosomal recessive

Summary

Autosomal recessive congenital nystagmus-8 (NYS8) is characterized by the presence of bilateral horizontal nystagmus in the absence of other neurologic signs or symptoms. Brain imaging is normal (Huang et al., 2022). For a discussion of genetic heterogeneity of congenital nystagmus, see NYS1 (310700). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: CPHD8, DUTT1, NORS, NYS8, SAX3, ROBO1
    Summary: roundabout guidance receptor 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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