Novel homozygous mutation in KPTN gene causing a familial intellectual disability-macrocephaly syndrome.

Abstract excerpt

Recently, a novel autosomal recessive developmental delay-macrocephaly syndrome was described caused by homozygous or compound heterozygous mutations in the KPTN gene. All reported patients belonged to one large Amish kindred. We report on the second case of KPTN-related syndrome in two Estonian adult sibs. The brother and sister both have macrocephaly and moderate intellectual disability, and their verbal...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Genomics and Rare Diseases
• Share to Intellectual Disability