Fused toes You can help advance Sunken eye My son Jaxson was diagnosed with DYRK1A Syndrome when he was 15 months old. Treatment varies from one child to the next. Decreased muscle tone Thin upper lip This genetic change can lead to a variety of symptoms which will vary from person to person. Little lower jaw When Jaxson was diagnosed in 2018, he was patient 176. Delayed speech Reduced head circumference Today we know about the rare condition that is caused by having a change in the DYRK1A gene, we know this because of research that was done on … Hole in heart wall separating two lower heart chambers Late-onset speech development
You can help advance Decreased width of the forehead Delayed speech acquisition all the symptoms listed. Repetitive or self-injurious behavior Fever induced seizures Thin nasal tip Farsightedness Others take medications for acid reflux, seizures and epilepsy.If your child has DYRK1A syndrome, find your tribe. Sometimes rare, disabling mutations, such as those reported for DYRK1A, are found. Undescended testes Prominent ear Decreased body height
Whole-genome sequencing can help make a diagnosis.Our first visit with our genetics team didn’t bear any fruit, the microarray came back with no findings. Long-sightedness Pinched nasal tip Analysis of rare coding variation in 3,871 ASD cases and 9,937 ancestry-matched or paternal controls from the Autism Sequencing Consortium (ASC) in De Rubeis et al., 2014 identified DYRK1A as a gene meeting high statistical significance with a FDR 0.01, meaning that this gene had a 99% chance of being a true autism gene (PMID 25363760). At least 11 DYRK1Agene mutations have been identified in people with autism spectrum disorder (ASD), a varied condition characterized by impaired social skills, communication problems, and repetitive behaviors.
Plump lower lip Prominent ears Long slender fingers
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Last updated: 9/1/2020 Repetitive movements Prominent bridge of nose Closely spaced eyes Mental retardation, severe Abnormally shaped ears