Gabriele-de Vries Syndrome
Gabriele-de Vries syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable cognitive impairment, often with behavioral problems, feeding problems, some movement abnormalities, and dysmorphic facial features. Affected individuals may also have a variety of congenital abnormalities (summary by Gabriele et al., 2017).
Genes related to Gabriele-de Vries Syndrome
Clinical FeaturesTop most frequent phenotypes and symptoms related to Gabriele-de Vries Syndrome
- Intellectual disability
- Global developmental delay
- Growth delay
- Abnormal facial shape
- Cognitive impairment
- High palate
And another 32 symptoms. If you need more information about this disease we can help you.
Incidence and onset information— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.
Gabriele-de Vries Syndrome Is also known as yy1 haploinsufficiency syndrome.
Researches and researchersCurrently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.
Gabriele-de Vries Syndrome Recommended genes panels
|Panel Name, Specifity and genes Tested/covered|
By Fulgent Genetics Fulgent Genetics (United States).
Comprehensive Epilepsy Panel.
By Blueprint Genetics (Finland).
SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SCO1, AIMP1, ST3GAL3, ST3GAL5, SLC25A1, SLC25A15, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, KDM5C, SMS, SNAP25, SIK1 , (...)
View the complete list with 263 more genes
Tempus xO assay.
By Tempus Labs, Inc. (United States).
BCL6, RHEB, RIPK1, RIPK2, RIPK3, RIT1, BCL7A, BCL9, BCR, ROBO2, ROCK1, ROCK2, ROR1, ROR2, ROS1, RPA1, BDNF, RPL5, RPN1, RPS6KB1 , (...)
View the complete list with 1627 more genes
You can get up to -5 more panels with our dedicated toolLearn more
Sources and references
You can check the following sources for additional information.OMIM ORPHANET Genetic Syndrome Finder
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