Defining Features of Gabriele-de Vries Syndrome in Adults: A Case Report and Literature Review.

Abstract excerpt

Gabriele-de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS-a 63-year-old woman with a c.1177_1179del YY1 variant, presenting with mild intellectual disability, bilateral cataracts, and...

Topics

• Humans
• Female
• Middle Aged
• Phenotype
• Intellectual Disability
• YY1 Transcription Factor
• Cataract