The Gabriele- De Vries syndrome (MIM #617557) is a genetic neurodevelopmental disorder caused by mutations in the YY1 gene located on chromosome 14.
Main clinical features
The subsequent clinical phenotype consist variable degrees of developmental delay/intellectual disability, intrauterine growth retardation , behavioural abnormalities as well as suggestive characterstic facial features.
Prevalence
The prevalence of the disorder is yet unknown.
Inheritance
The disorder is inherited in an autosomal dominant manner.
All patients reported to date, do have the disorder as a result of a de novo mutations or deletions of YY1 gene, leading to YY1 haploinsuffiency.