01.03.2013 · Koolen-de Vries syndrome is a disorder characterized by developmental delay and mild to moderate intellectual disability.
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What is the life expectancy of someone with Koolen-de Vries syndrome?
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30.05.2019 · Gabriele-de Vries syndrome is characterized by mild-to-profound developmental delay / intellectual disability (DD/ID) in all affected ...
This type of genetic abnormality is called a microdeletion. A small number of individuals with Koolen-de Vries syndrome do not have a chromosome 17.
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26.01.2010 · Koolen-de Vries syndrome (KdVS) is characterized by congenital malformations, developmental delay / intellectual disability, ...
09.06.2022 · Disease Overview. Koolen-de Vries syndrome (KdVS) is a rare genetic disorder with an estimated prevalence of about 1 in 30,000 people.
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Koolen–De Vries syndrome (KdVS), also known as 17q21.31 microdeletion syndrome, is a rare genetic disorder caused by a deletion of a segment of chromosome ...
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Koolen-de Vries Syndrome is an autosomal dominant condition, which means a deletion or mutation of one copy of the KANSL1 gene is enough to cause the disorder.
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In this study, we compared the impact of using expanded versus targeted disease panels on patients with and without patient reported FH. Methods: Results from ...
Genetic mutations in Gorlin-Goltz syndrome. PubMed. Daneswari, Muthumula; Reddy, Mutjumula Swamy Ranga. 2013-07-01. Gorlin-Goltz syndrome is a rare ...
Disease definition. A rare multisystem disorder characterized by neonatal/childhood hypotonia, mild to moderate developmental delay or intellectual ...
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