Abstract
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.
Similar content being viewed by others
Article PDF
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Steinmüller, R., Steinberger, D. & Müller, U. MEHMO (mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly, obesity), a novel syndrome: assignment of disease locus to Xp21.1–p22.13. Eur J Hum Genet 6, 201–206 (1998). https://doi.org/10.1038/sj.ejhg.5200180
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1038/sj.ejhg.5200180
Keywords
This article is cited by
-
Hypogonadism and neurological diseases
Neurological Sciences (2013)
-
Systematic identification of human mitochondrial disease genes through integrative genomics
Nature Genetics (2006)
-
The Human Obesity Gene Map: The 2005 Update
Obesity (2006)
-
The Human Obesity Gene Map: The 2004 Update
Obesity Research (2005)
-
The Human Obesity Gene Map: The 2002 Update
Obesity Research (2003)