Overview
Intellectual disability syndrome due to a DYRK1A point mutation is a rare genetic condition caused by a change (mutation) in the DYRK1A gene. This gene plays an important role in brain development, and when it does not work properly, it can lead to a range of developmental and physical challenges. The condition is sometimes referred to as DYRK1A-related intellectual disability syndrome or DYRK1A haploinsufficiency syndrome. Children with this condition typically show intellectual disability that ranges from mild to severe, along with delayed speech and language development. Many children also have a smaller-than-average head size (microcephaly), distinctive facial features, feeding difficulties in infancy, and problems with walking and coordination. Seizures occur in some individuals. Vision problems and anxiety or behavioral challenges are also commonly reported. There is currently no cure for this condition. Treatment focuses on managing symptoms and supporting development. This includes early intervention programs such as speech therapy, occupational therapy, physical therapy, and special education services. Seizures, if present, are managed with anti-seizure medications. A team of specialists working together provides the best outcomes for affected individuals. Research into the DYRK1A gene is ongoing, and scientists are exploring potential targeted therapies, but none are currently approved.
Key symptoms:
Intellectual disability (mild to severe)Delayed speech and language developmentSmaller-than-average head size (microcephaly)Feeding difficulties in infancyDelayed motor milestones such as walkingSeizures or epilepsyDistinctive facial features (deep-set eyes, prominent nose, thin upper lip)Short statureAnxiety or behavioral difficultiesVision problemsLow muscle tone (hypotonia)Difficulty with coordination and balanceAutism-like behaviors in some individualsProblems with fine motor skills such as writing
Clinical phenotype terms (50)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Intellectual disability syndrome due to a DYRK1A point mutation.
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Specialists
View all specialists →No specialists are currently listed for Intellectual disability syndrome due to a DYRK1A point mutation.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Intellectual disability syndrome due to a DYRK1A point mutation.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What is the specific mutation found in my child's DYRK1A gene, and what does it mean for their development?,What therapies should we start right away, and how often should they occur?,Should we be concerned about seizures, and what signs should we watch for?,Are there any clinical trials or research studies my child might be eligible for?,What specialists should be part of my child's care team?,How will this condition affect my child's ability to attend school and learn?,Is there a risk that future children could also have this condition?
Common questions about Intellectual disability syndrome due to a DYRK1A point mutation
What is Intellectual disability syndrome due to a DYRK1A point mutation?
Intellectual disability syndrome due to a DYRK1A point mutation is a rare genetic condition caused by a change (mutation) in the DYRK1A gene. This gene plays an important role in brain development, and when it does not work properly, it can lead to a range of developmental and physical challenges. The condition is sometimes referred to as DYRK1A-related intellectual disability syndrome or DYRK1A haploinsufficiency syndrome. Children with this condition typically show intellectual disability that ranges from mild to severe, along with delayed speech and language development. Many children also
How is Intellectual disability syndrome due to a DYRK1A point mutation inherited?
Intellectual disability syndrome due to a DYRK1A point mutation follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Intellectual disability syndrome due to a DYRK1A point mutation typically begin?
Typical onset of Intellectual disability syndrome due to a DYRK1A point mutation is infantile. Age of onset can vary across affected individuals.