Tim PhetthongThipwimol Tim-AroonArthaporn KhongkrapanPreamrudee PoomthavornDuangrurdee WattanasirichaigoonFaculty of Medicine, Ramathibodi Hospital, Mahidol University2020-08-252020-08-252020-08-01American Journal of Medical Genetics, Part A. Vol.182, No.8 (2020), 1873-187615524833155248252-s2.0-85086235187https://repository.li.mahidol.ac.th/handle/20.500.14594/57690© 2020 Wiley Periodicals LLC. Kabuki syndrome (KS) is a rare heterogeneous phenotypic genetic syndrome, characterized by hypotonia, developmental delay and/or intellectual disability with typical facial features. It is challenging to diagnose KS in newborn and young infant. We report a Thai girl who presented with two rare co-occurrence phenotypes, hyperinsulinemic hypoglycemia and midgut malrotation. She had not have distinctive facial dysmorphism during neonatal period. At 4 months of age, she had poor weight gain with some facial features suggestive KS. Singleton whole exome sequencing (WES) was carried out followed by Sanger sequencing of the supposed variant. The result indicated a novel de novo heterozygous KMT2D mutation, c.15364A>T (p.Lys5122*), confirming KS. Our patient revealed rare clinical manifestations from the diverse population and address the benefit of WES in establishing early diagnosis of KS before typical facial gestalt exhibited, which allows timely and appropriate management to maximize developmental achievement.Mahidol UniversityBiochemistry, Genetics and Molecular BiologyMedicineArticleSCOPUS10.1002/ajmg.a.61723