Five unrelated probands had eye anomalies (mostly bilateral colobomas), dysmorphic features, seizures, feeding difficulties, developmental delay, intellectual disability, and no verbal development; most of the probands had congenital cardiac defects and hypotonia. Brain imaging studies demonstrated several consistent abnormalities including mildly simplified gyral pattern with relatively shallow sulci, small and dysplastic hippocampi, mild to moderate reduced volume of white matter, mild ventriculomegaly, diffusely thin corpus callosum, mildly thin brainstem with small pons, and moderately diffuse cerebellar and vermis hypoplasia with a striking foliar dysplasia. (Adopted from Kanca et al. 2019, FBrf0243068.)

Neurooculocardiogenitourinary syndrome (NOCGUS) is a multisystem disorder characterized by poor growth and anomalies of the ocular, craniofacial, neurologic, cardiovascular, genitourinary, skeletal, and gastrointestinal systems. Lethality before 2 years of age has been observed (Reis et al. 2019, pubmed:31327510). [from MIM:618652, 2019.11.05]

Of the combined nine probands identified by Kanca et al. 2019 (FBrf0243068) and Reis et al. 2019 (pubmed:31327510), all had de novo mutations in WDR37.

Between Kanca et al. 2019 (FBrf0243068) and Reis et al. 2019 (pubmed:31327510), nine unrelated, non-consanguineous probands showed heterozygosity for de novo missense mutations in the WDR37 gene. [from MIM:618652, 2019.11.05]