hrp0084p3-903 | Fat | ESPE2015

Genotype and Phenotype Characterisation in Two Patients with MEHMO Syndrome

Stanik Juraj , Skopkova Martina , Stanikova Daniela , Ukropec Jozef , Danis Daniel , Kurdiova Timea , Ukropcova Barbara , Ticha Lubica , Klimes Iwar , Gasperikova Daniela

Background: MEHMO (microcephaly, epilepsy, hypogenitalism, mental retardation, obesity) is a rare disorder with X-linked inheritance. Only three families with this disorder were described previously, with the linkage to a region on X chromosome. No specific gene has been identified so far.Aims and objectives: The aim was to identify the genetic etiology in two unrelated Slovak male probands (4.5 and 1.5 years old respectively) with the clinical diagnosis...