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Up to: Complex neurodevelopmental disorder · Mendelian neurodevelopmental disorder
AFG2B-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.
This condition has no sub-types.