Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific. Disease data Classification Disease Synonyms BBSOAS Bosch-Boonstra-Schaaf optic atrophy syndrome BBSOAS Bosch-Boonstra-Schaaf optic atrophy syndrome ORPHA code 401777 OMIM code 615722 ICD10 code H47.2 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