Biallelic variants in PRMT7 cause a rare autosomal recessive syndromic neurodevelopmental condition characterized by psychomotor delay with impaired speech leading to intellectual disability, in association with hypotonia, and seizures. Thirteen cases have been reported so far in literature. Affected individuals also show postnatal microcephaly, recurrent dysmorphic features with a recognizable facial gestalt, short stature, and abnormalities of hands and feet. A brain MRI may show delayed myelination.
PRMT7