Hemizygous UBA5 missense mutation unmasks recessive disorder in a patient with infantile-onset encephalopathy, acquired microcephaly, small cerebellum, movement disorder and severe neurodevelopmental delay

• DOI: 10.1016/j.ejmg.2018.06.009
• Publication Date: 2018-06-12T01:32:29Z
• Authors: Karen J. Low; J. Baptista; M. Babiker; R. Caswell; C. King; S. Ellard; I. Scurr
• Keywords: Hemizygote; Brain Diseases; 0303 health sciences; Developmental Disabilities; Movement; Mutation, Missense; Infantile-onset encephalopathy; 610; Genes, Recessive; Syndrome; Ubiquitin-Activating Enzymes; 618; 03 medical and health sciences; UBA5; Cerebellum; Child, Preschool; Microcephaly; Humans; Ataxia; Female; Whole gene deletion