Homozygous ADCY5 mutation causes early-onset movement disorder with severe intellectual disability

ConclusionsOur results furtherexpand the phenotype/genotype correlations of the ADCY5-related disorders.Mutations of ADCY5 should be considered in pediatric patients with ID andinvoluntary movement.

http://link.springer.com/10.1007/s10072-021-05152-y

Source: Neurological Sciences - March 11, 2021 Category: Neurology Source Type: research