Mutations in HUWE1 are the cause of mental retardation, X-linked syndromic, Turner type [Online Mendelian Inheritance in Man (OMIM, http://www.ncbi.nlm.nih.gov/omim) #300706], Juberg-Marsidi syndrome [OMIM #309580] and Brooks-Wisniewski-Brown syndrome [OMIM #300612] [5,15–17]. The gene discussed is HUWE1; the disease is Intellectual disability.