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]
- MedGen UID:
- 1863661
- •Concept ID:
- C5925133
- •
- Disease or Syndrome