A Novel de novo Variant in the PHF21A causes craniofacial abnormalities, intellectual disability and skeletal manifestations.

Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures (IDDBCS) is a heterogenous genetic syndrome having diverse clinical variances such as enlarged parietal foramina, multiple exostoses, epilepsy, intellectual disability (ID), and craniofacial-abnormalities (CFA). Disease-causing variants in PHF21A have been associated with a broad spectrum of phenotypes. 1 However, to date, only 24 patients have been described in the literature; thus, reporting additional cases with overlapping findings will significantly help in genotype-phenotype co-relations and help to explore and understand the underlying pathophysiological mechanism. This article is protected by copyright. All rights reserved.