has material basis in germline mutation in PRR12 neuroocular syndrome neuroocular syndrome 1 https://www.malacards.org/card/neuroocular_syndrome_1 GARD:0027154 OMIM:619539 UMLS:C5925133 MEDGEN:1863661 multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome 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. Orphanet:659904 MONDO:0971007