Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare X-linked genomic disorder associated with interstitial chromosomal duplications at Xq28 encompassing the <i>MECP2</i> gene. It is characterized in males by infantile onset hypotonia, severe global developmental delay, intellectual disability, progressive spasticity, seizures, gastrointestinal symptoms and recurrent respiratory infections. In females, the phenotype is more variable. Disease data Classification Malformation syndrome Synonyms MECP2 duplication syndrome Dystalna duplikacja Xq Telomerowa duplikacja Xq X-linked intellectual disability syndrome, Lubs type ORPHA code 1762 OMIM code 300260 ICD10 code Q99.8 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl