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

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.

SUBMITTER: Gupta A

PROVIDER: S-EPMC6452521 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature

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

Gupta Aditi A Ewing Sarah A SA Renaud Deborah L DL Hasadsri Linda L Raymond Kimiyo M KM Klee Eric W EW Gavrilova Ralitza H RH

Clinical case reports 20190219 4

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. ...[more]

PMID: 30997052

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