Expanding the Neurodevelopmental Spectrum of Xia-Gibbs Syndrome: New Clinical Entities and Novel Variants From a Turkish Cohort.

Abstract excerpt

Xia-Gibbs syndrome (XGS) is a rare neurodevelopmental disorder caused by heterozygous variants in the AHDC1 gene. While the core phenotype includes developmental delay, hypotonia, and expressive language impairment, the syndrome displays considerable clinical and genetic heterogeneity. Data from non-European populations remain scarce. We report the clinical and molecular findings of five unrelated Turkish...

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• Child
• Child, Preschool
• Cohort Studies
• DNA-Binding Proteins
• Exome Sequencing