We are a small but growing community of families that care for someone with a change affecting the DYRK1A gene. The change can range from being a small change in the DNA or bigger change in the Chromosome that affects the DYRK1A gene. These changes cause a loss of function meaning one of the DYRK1A genes doesn’t function properly. When one of the genes doesn’t function it causes a similar set of signs and symptoms that include;
- Microcephaly
- Low Birth Weight
- Feeding Issues at Birth (Frequent Vomiting)
- Speech and Language Impairment
- Developmental Delay / Cognitive Impairment
- Autism and/or Traits
- Growth Delay
- Unsteady Gait
- Ear Anomalies
- Epilepsy / Seizures / Febrile Seizures
- Chronic Constipation
- and More
Science is still learning about this newly identified condition. This community also includes a few researchers who have experience with patients affect by changes in the gene.
DYRK1A’s full name is dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
It is located on chromosome 21q22.13
Learn More about DYRK1A Gene………
Information Leaflet
The original location of this file is on the Unique website. Unique has made several other documents on different disorders. To download and print go to Unique’s Document.
DYRK1A disrupted 