A rare case of SRD5A3-CDG in a patient with ataxia and telangiectasia: A
SRD5A3-CDG (MIM 612379) is an extremely rare congenital disease, with
only 38 cases having been reported. Common manifestations are
developmental delay, intellectual disability, ophthalmological
abnormalities, cerebellar abnormalities, ataxia, and hypotonia. Here, we
discuss a seven-year-old boy with SRD5A3-CDG (homozygous variant
c.57G>A [p.Trp19Ter]), featuring the unprecedented
finding of telangiectasia.