title: A new X-linked mental retardation syndrome.
abstract: There are now more than 70 X-linked mental retardation syndromes associated with physical findings documented in McKusick's "Mendelian Inheritance in Man". We describe a boy and his maternal uncle who appear to have a previously unreported X-linked mental retardation syndrome, consisting of moderate mental retardation, coarse facial features, epilepsy and slowly progressive joint contractures.
authors.affiliation: Department of Genetics, St George's Hospital Medical School, London, UK.
authors.forename: T
authors.initials: T
authors.lastname: Homfray
authors.forename: T
authors.initials: T
authors.lastname: Holland
authors.forename: M
authors.initials: M
authors.lastname: Patton
mesh_terms: D000293:Adolescent; D000328:Adult; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics*; D007592:Joint Diseases / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D010375:Pedigree; D012729:Sex Chromosome Aberrations / Q000175:diagnosis*; D013577:Syndrome; D014960:X Chromosome