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.
MONDO:0100038
complex neurodevelopmental disorder
is_a
MONDO:0100500
Mendelian neurodevelopmental disorder
is_a
AFG2B-related complex neurodevelopmental disorder with motor features and hearing loss
exact
SPATA5L1-related complex neurodevelopmental disorder with motor features and hearing loss
exact