Neuroocular syndrome 1
Neuroocular syndrome 1
Definition
A neuroocular syndrome caused by a mutation in PRR12 gene. It 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.
Also known as multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome — per MONDO