The syndrome caused by mutations in the RUSC2gene is characterized by congenital hypotonia, global developmental delay, intellectual disability, acquired microcephaly, refractory seizures (usually infantile spasms) and dysmorphic features.
RUSC2RUSC2The syndrome caused by mutations in the RUSC2gene is characterized by congenital hypotonia, global developmental delay, intellectual disability, acquired microcephaly, refractory seizures (usually infantile spasms) and dysmorphic features.