Clinical Case Reports (Apr 2019)

Developmental delay, coarse facial features, and epilepsy in a patient with EXT2 gene variants

  • Aditi Gupta,
  • Sarah A. Ewing,
  • Deborah L. Renaud,
  • Linda Hasadsri,
  • Kimiyo M. Raymond,
  • Eric W. Klee,
  • Ralitza H. Gavrilova

DOI
https://doi.org/10.1002/ccr3.2010
Journal volume & issue
Vol. 7, no. 4
pp. 632 – 637

Abstract

Read online

Key Clinical Message We report a patient with developmental delay, autism, epilepsy, macrocephaly, facial dysmorphism, gastrointestinal, and behavioral issues due to EXT2 compound heterozygous likely pathogenic variants. This case report expands the EXT2 gene mutation database and the clinical spectrum of patients with deficiencies in the heparan sulfate pathway.

Keywords