30.05.2019 · Gabriele-de Vries syndrome is characterized by mild-to-profound developmental delay / intellectual disability (DD/ID) in all affected ...
Weitere Fragen
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 symptoms of yy1 syndrome?
The main clinical manifestations of Gabriele-de Vries syndrome are developmental delay/intellectual disability, craniofacial dysplasia, intrauterine growth delay, low birth weight, feeding difficulties, and rare congenital malformations.
What is the Koolen de Vries syndrome?
Koolen-de Vries syndrome (KdVS) is characterized by congenital malformations, developmental delay / intellectual disability, neonatal/childhood hypotonia, epilepsy, dysmorphisms, and behavioral features. Psychomotor developmental delay is noted in all individuals from an early age.
[Gabriele-de Vries Syndrome: Genes and Databases]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK541730/table/gabriele-devries.molgen.TA/. Making ...
[OMIM Entries for Gabriele-de Vries Syndrome (View All in OMIM)]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK541730/table/gabriele-devries.molgen.TB/.
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 ...
Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small ...
26.03.2023 · Herein, we report the case of a newborn male patient with a novel de novo pathogenic variant in the Guanine Nucleotide-Binding Protein, Alpha ...
30.05.2019 · PDF | Clinical characteristics Gabriele-de Vries syndrome is characterized by mild-to-profound developmental delay / intellectual disability ...
13.03.2023 · Herein, we report the case of a newborn male patient with a novel de novo pathogenic variant in the Guanine Nucleotide-Binding Protein, Alpha ...
Welcome to NCBI. The National Center for Biotechnology Information advances science and health by providing access to biomedical and genomic information. About ...
Es fehlt: gabriele. q= NBK541730/