Expanding genotype-phenotype correlations in FOXG1 syndrome: results from a patient registry.

Elise BrimbleKathryn G ReyesKopika KuhathaasOrrin DevinskyMaura R Z RuzhnikovXilma R Ortiz-GonzalezIngrid SchefferNadia Bahi-BuissonHeather Olsonnull null

Published in: Orphanet journal of rare diseases (2023)

We refine the phenotypic spectrum of neurodevelopmental features associated with FOXG1 syndrome. We strengthen genotype-driven outcomes, where missense variants are associated with a milder clinical course.

Keyphrases

case report
copy number
intellectual disability
gene expression
metabolic syndrome
autism spectrum disorder
type diabetes
skeletal muscle
adipose tissue
congenital heart disease