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MCID: GBR007
MIFTS: 17
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Gabriele-De Vries Syndrome
Categories:
Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases
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MalaCards integrated aliases for Gabriele-De Vries Syndrome:
Characteristics:OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
highly variable phenotype de novo mutation additional variable congenital abnormalities may occur Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Neuronal diseases |
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OMIM
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57
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). (617557)
MalaCards based summary : Gabriele-De Vries Syndrome, is also known as gadevs. An important gene associated with Gabriele-De Vries Syndrome is YY1 (YY1 Transcription Factor). Affiliated tissues include brain. UniProtKB/Swiss-Prot : 75 Gabriele-de Vries syndrome: An autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability. Most patients have behavioral and feeding problems, movement abnormalities, mild distal skeletal anomalies, and dysmorphic facial features. |
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:617557 |
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MalaCards organs/tissues related to Gabriele-De Vries Syndrome:41
Brain
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Genes related to Gabriele-De Vries Syndrome (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Gabriele-De Vries Syndrome:75
ClinVar genetic disease variations for Gabriele-De Vries Syndrome:6
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Search
GEO
for disease gene expression data for Gabriele-De Vries Syndrome.
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