Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter. Disease data Classification Malformation syndrome Synonyms MCOPS10 MCOPS10 Syndromiczne małoocze typu 10 Zespół MOBA MOBA syndrome Syndromic microphthalmia type 10 ORPHA code 77299 OMIM code 611222 ICD10 code Q11.2 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