Gabriele-De Vries Syndrome (GADEVS)

Alias:
Gabriele De Vries Syndrome
Gadevs
Yy1 Intellectual Disability Syndrome
Yy1 Haploinsufficiency Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Gabriele-De Vries Syndrome, also known as gabriele de vries syndrome, is related to contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a and learning disability. An important gene associated with Gabriele-De Vries Syndrome is YY1 (YY1 Transcription Factor). Affiliated tissues include breast and skin, and related phenotypes are global developmental delay and abnormal facial shape
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Antenatal
<1/1000000
1
6
19

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Mutations
No data available

Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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IF
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