has material basis in germline mutation in AFG2B complex neurodevelopmental disorder Mendelian neurodevelopmental disorder AFG2B-related complex neurodevelopmental disorder with motor features and hearing loss https://github.com/monarch-initiative/mondo/issues/7317 https://github.com/monarch-initiative/mondo/issues/7975 GARD:0027068 SPATA5L1-related complex neurodevelopmental disorder with motor features and hearing loss A neurodevelopmental disorder related to biallelic variants in AFG2B and characterized by a spectrum of intellectual disability, hearing loss, and motor features including spasticity, dystonia, and/or hypotonia. Other phenotypic features commonly reported with the neurodevelopmental presentation include spasticity, focal or generalized epilepsy, and microcephaly. AFG2B-related complex neurodevelopmental disorder with motor features and hearing loss MONDO:0100551