30.05.2019 · Management. Treatment of manifestations: Developmental delay / intellectual disability, craniofacial anomalies (Pierre Robin sequence, cleft ...
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What is Gabriele de Vries syndrome?
Gabriele-de Vries syndrome is characterized by mild-to-profound developmental delay / intellectual disability (DD/ID) in all affected individuals and a wide spectrum of functional and morphologic abnormalities. Intrauterine growth restriction or low birth weight and feeding difficulties are common.
What are the three major genetic disorders?

Genetic disorders can be:

Chromosomal: This type affects the structures that hold your genes/DNA within each cell (chromosomes). ...
Complex (multifactorial): These disorders stem from a combination of gene mutations and other factors. ...
Single-gene (monogenic): This group of conditions occurs from a single gene mutation.
What are the 10 common genetic disorders?

Genetic disorders

Albinism. Albinism is a group of genetic conditions. ...
Angelman syndrome. A rare syndrome causing physical and intellectual disability. ...
Ankylosing spondylitis. ...
Apert syndrome. ...
Charcot-Marie-Tooth disease. ...
Congenital adrenal hyperplasia. ...
Cystic fibrosis (CF) ...
Down syndrome.
Is Williams syndrome an intellectual disability?
Williams syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems.
Clinical resource with information about Gabriele de Vries syndrome and its clinical features, YY1, available genetic tests from US and labs around the ...
Es fehlt: q= books/ NBK541730
Review Clinical analysis of Gabriele-de Vries caused by YY1 mutations and literature review. Yang J, Yu C, Lyn N, Liu L, Li D, Shang Q. Mol Genet Genomic Med.
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A 9-month-old Chinese patient with Gabriele-de Vries syndrome due to novel germline mutation in the YY1 gene. Tan L, Li Y, Liu F, Huang Y, Luo S, ...
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Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small ...
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30.05.2019 · Bookshelf ID: NBK541730. Excerpt. Clinical characteristics: Gabriele-de Vries syndrome is characterized by mild-to-profound developmental ...
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Review Clinical analysis of Gabriele-de Vries caused by YY1 mutations and literature review. · A 9-month-old Chinese patient with Gabriele-de Vries syndrome due ...
Es fehlt: Management | Suchen mit:Management
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