MEHMO (mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly, obesity), a novel syndrome: assignment of disease locus to xp21.1-p22.13.
A previously unrecognised X-chromosomal mental retardation syndrome is described. Clinical hallmarks are mental retardation, epileptic seizures, hypogonadism, and -genitalism, microcephaly and obesity. Life expectancy of patients is less than two years. Based on the major clinical symptoms this condition is referred to by the acronym MEHMO. Haplotype and two-point linkage analyses in a large three-generation family assign the disease locus to Xp21.1-p22.13, to a region that is flanked by CYBB and DXS365.
Institut für Humangenetik der Justus-Liebig-Universität Giessen, Germany.
R
R
Steinmüller
D
D
Steinberger
U
U
Müller
D004827:Epilepsy / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D005835:Genitalia / Q000002:abnormalities*; D006239:Haplotypes; D006801:Humans; D007006:Hypogonadism / Q000235:genetics*; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D009765:Obesity / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome; D014960:X Chromosome