EP203: Genotype/phenotype correlations in Joubert syndrome

Abstract

Joubert Syndrome arises from defects of primary cilia resulting in multi-organ malformations of the central nervous system, kidneys, eyes, liver, heart and limbs. Diagnosis is made by presence of the “molar tooth sign” on brain MRI, hypotonia and developmental/intellectual disability. However, significant phenotypic variability exists. Previous work has suggested genotype/phenotype correlations in Joubert Syndrome, but the rarity of the diagnosis has limited the ability to draw clinically meaningful correlations from most genes associated with Joubert Syndrome.