AFG2B-related complex neurodevelopmental disorder with motor features and hearing loss

Definition

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.

Also known as AFG2B-related complex neurodevelopmental disorder with motor features and hearing loss, SPATA5L1-related complex neurodevelopmental disorder with motor features and hearing loss — per MONDO