Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Severe neonatal-onset encephalopathy with microcephaly is a rare monogenic disease with epilepsy characterized by neonatal-onset encephalopathy, microcephaly, severe developmental delay or absent development, breathing abnormalities (including central hypoventilation and/or respiratory insufficiency), intractable seizures, abnormal muscle tone and involuntary movements. Early death is usual. Disease data Classification Disease Synonyms Severe congenital encephalopathy due to MECP2 mutation Ciężka wrodzona encefalopatia z powodu mutacji MECP2 ORPHA code 209370 OMIM code 300673 ICD10 code Q02 ICD11 code LD20.2 *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