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 M Gavrilova

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish (US)
Pages (from-to)632-637
Number of pages6
JournalClinical Case Reports
Volume7
Issue number4
DOIs
StatePublished - Apr 1 2019

Keywords

  • EXT2
  • genetics
  • NDST1
  • neurology
  • whole exome sequencing

ASJC Scopus subject areas

  • Medicine(all)

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