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GTR Home > Conditions/Phenotypes > Neuroocular syndrome 1

Neuroocular syndrome 1

Summary

Neuroocular syndrome-1 (NOC1) encompasses a broad spectrum of overlapping anomalies, with developmental delay or impaired intellectual development as a consistent finding. Eye abnormalities show marked variability in the type and severity of defects, and include anophthalmia, microphthalmia, and coloboma. Other common systemic features include congenital heart and kidney defects, hypotonia, failure to thrive, and microcephaly (summary by Chowdhury et al., 2021). Genetic Heterogeneity of Neuroocular Syndrome See also NOC2 (168885), caused by mutation in the DAGLA gene (614015) on chromosome 11q12. [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: KIAA1205, NOC, PRR12
    Summary: proline rich 12

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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