has material basis in germline mutation in NR2F1 Bosch-Boonstra-Schaaf optic atrophy syndrome https://github.com/monarch-initiative/mondo/issues/4452 https://github.com/monarch-initiative/mondo/issues/5588 https://www.malacards.org/card/bosch_boonstra_schaaf_optic_atrophy_syndrome Orphanet:401777 Bosch-Boonstra-Schaaf optic atrophy syndrome OMIM:615722 optic atrophy-intellectual disability syndrome 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. UMLS:C3810363 MONDO:0014320 GARD:0012903 MEDGEN:816693 DOID:0112226 BBSOAS autosomal dominant syndromic intellectual disability