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………

GHR – Genetic Home Reference

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