Original ArticlesExpansion of phenotype of DDX3X syndrome: six new casesBeal, Bryonya; Hayes, Iani; McGaughran, Juliec; Amor, David J.d,,e; Miteff, Christinaf; Jackson, Victoriah; van Reyk, Oliviad; Subramanian, Gopinathf; Hildebrand, Michael S.g; Morgan, Angela T.d,,e; Goel, Himanshua,,bAuthor Information aUniversity of Newcastle, Callaghan bHunter Genetics, Waratah, NSW cGenetic Health Queensland, Brisbane dMurdoch Children’s Research Institute, Royal Children’s Hospital eUniversity of Melbourne, Parkville fJohn Hunter Children’s Hospital, New Lambton Heights gEpilepsy Research Centre, Austin Health hWalter and Elisa Hall Institute, Melbourne, Australia iGenetic Health Service New Zealand-Northern Hub, Auckland, New Zealand Received 1 May 2019 Accepted 16 May 2019 Supplemental Digital Content is available for this article. Direct URL citations appear in the printed text and are provided in the HTML and PDF versions of this article on the journal's website, http://www.clindysmorphol.com. Correspondence to Himanshu Goel, Clinical Geneticist, PO Box 84, Waratah, NSW 2298, Australia, Tel: +61-2-49853100; fax: +61-2-49853105; e-mail: [email protected] Clinical Dysmorphology: October 2019 - Volume 28 - Issue 4 - p 169-174 doi: 10.1097/MCD.0000000000000289 Buy SDC Metrics Abstract Pathogenic variants in DDX3X have recently been identified to be a relatively common cause of intellectual disability in females. In this study, we describe six female probands, from five unrelated families, with five novel heterozygous variants in DDX3X, and the identification of potential germline mosaicism. Consistent features between this cohort and previously described cases include developmental delay or intellectual disability, growth disturbance and movement disorder. Common facial dysmorphism within the cohort include short palpebral fissures, micrognathia, bulbous nasal tip, protruding ears, high arched palate, thin upper vermillion and smooth philtrum. Novel clinical features identified from this cohort include facial dysmorphisms, perinatal complications, valgus feet deformity, lipoatrophy, dystonic episodes, and cutaneous mastocytosis. This case series attempts to expand the phenotype of the DDX3X syndrome; however, it remains heterogeneous. Description of further cases is required to more accurately identify the significance of novel phenotypes within this cohort. Copyright © 2019 Wolters Kluwer Health, Inc. All rights reserved.