Original ArticlesAtypical, milder presentation in a child with CC2D2A and KIDINS220 variantsLam, Zenaa; Albaba, Shadib; Study, DDDc; Balasubramanian, Meenad,,eAuthor Information aYorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Leeds bSheffield Diagnostic Genetics Service, Sheffield Children’s NHS Foundation Trust, Sheffield cDDD Study, Wellcome Sanger Institute, Hinxton, Cambridge dSheffield Clinical Genetics Service, Sheffield Children’s NHS Foundation Trust, Sheffield eAcademic Unit of Child Health, University of Sheffield, United Kingdom Received 12 May 2019 Accepted 19 August 2019 Correspondence to Meena Balasubramanian, MBBS, DCH, MRCPCH, MD, Sheffield Clinical Genetics Service, Sheffield Children’s NHS Foundation Trust, Sheffield, United Kingdom, Tel: +44 114 2717025; fax: +44 114 2737467; e-mail: [email protected] Clinical Dysmorphology: January 2020 - Volume 29 - Issue 1 - p 10-16 doi: 10.1097/MCD.0000000000000298 Buy Metrics Abstract With the increasing availability and clinical use of exome and whole-genome sequencing, reverse phenotyping is now becoming common practice in clinical genetics. Here, we report a patient identified through the Wellcome Trust Deciphering Developmental Disorders study who has homozygous pathogenic variants in CC2D2A and a de-novo heterozygous pathogenic variant in KIDINS220. He presents with developmental delay, intellectual disability, and oculomotor apraxia. Reverse phenotyping has demonstrated that he likely has a composite phenotype with contributions from both variants. The patient is much more mildly affected than those with Joubert Syndrome or Spastic paraplegia, intellectual disability, nystagmus, and obesity, the conditions associated with CC2D2A and KIDINS220 respectively, and therefore, contributes to the phenotypic variability associated with the two conditions. Copyright © 2019 Wolters Kluwer Health, Inc. All rights reserved.