We remove all identifying information when posting a question to protect your privacy. rare disease research!
Predisposition to infections Unable to load your collection due to an error Prominent lower lip Thin tip of nose Faltering weight in infancy
Birth weight less than 10th percentile
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Incoordination of limb movements Name must be less than 100 characters Decreased width of the forehead This information comes from a database called the Making a diagnosis for a genetic or rare disease can often be challenging. Limb incoordination Bunion DYRK1A syndrome is a rare condition, first described in the medical literature in 2008.
Single kidney
Shapes, which identify the type of variant (squares=frame shift variants, circles=missense variants, stars=nonsense variants, triangles=splice variants), are positioned where (A-E’) Embryos were unilaterally injected at the 8-cell stage with 10ng of Dyrk1a MO or Standard MO (Std MO) along with 50 pg
Abnormal gait Prenatal growth retardation DYRK1A is localized in the Down syndrome critical region of chromosome 21, and is considered to be a strong candidate gene for learning defects associated with Down syndrome. Undescended testes We hope to spreading awareness of the affects that occur in DYRK1A Syndrome. Weight faltering in infancy As increased expression of DYRK1A and low plasma homocysteine level have been associated with Down syndrome, we aimed to analyze the effect of its over-expression on homocysteine metabolism in mice. Small jaw Clipboard, Search History, and several other advanced features are temporarily unavailable.
Reduced head circumference People with DYRK1A syndrome may also be more likely to have sensory processing disorder or be on the autism spectrum. This genetic change can lead to a variety of symptoms which will vary from person to person. Authors who are faculty members in the Department of Molecular and Human Genetics at Baylor College of Medicine are identified as such in the affiliation section. Nasal tip, pinched Get the latest public health information from CDC: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract Genet Med .
A registry supports research by collecting of information about patients that … Questions sent to GARD may be posted here if the information could be helpful to others. Spider fingers
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