Original ArticlesNeurodevelopmental disorder with microcephaly, ataxia, and seizures syndrome: expansion of the clinical spectrumKaraer, Kadria; Karaer, Deryaa; Yüksel, Zaferb; Işikay, Sedatc Author Information aDepartment of Medical Genetics, Pamukkale University Faculty of Medicine, Denizli, Turkiye bHuman Genetics, Bioscientia GmbH, Ingelheim, Germany cDepartment of Pediatric Neurology, Gaziantep University Faculty of Medicine, Gaziantep, Turkey Received 4 March 2022 Accepted 19 April 2022 Correspondence to Kadri Karaer, MD, Department of Medical Genetics, Pamukkale University Faculty of Medicine, Denizli, Turkiye, Tel: +90 5426745672; e-mail: [email protected] Clinical Dysmorphology: October 2022 - Volume 31 - Issue 4 - p 167-173 doi: 10.1097/MCD.0000000000000426 Buy Metrics Abstract Neurodevelopmental disorder with microcephaly, ataxia, and seizures (NEDMAS) syndrome is a rare neurodevelopmental disorder characterized by moderate intellectual disability (ID), thin body habitus, microcephaly, seizures, ataxia, muscle weakness, and speech impairment. So far, only two families with NEDMAS have been reported. We report the clinical and molecular characteristics of three unrelated Turkish families with four NEDMAS patients. Whole-exome sequencing was used to search for the disease-causing variant. The main manifestations of the probands are severe developmental delay and ID, thin body habitus, and severe hypotonia. Brain imaging revealed bilateral cerebral and cerebellar diffuse atrophy. Sequencing results showed that both patients carried a novel missense variant c.1196C>T (p.Thr399Met) in the seryl-tRNA synthetase gene. Our findings help expand the variant spectrum of NEDMAS and provide additional information for diagnosing cases with atypical features. Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.