Overview
TELO2-related intellectual disability-neurodevelopmental disorder is a rare genetic condition caused by changes (variants) in the TELO2 gene. This gene plays an important role in helping cells grow, divide, and repair themselves properly. When the TELO2 gene does not work as it should, it affects the development of the brain and nervous system, leading to a range of challenges that are usually noticed in infancy or early childhood. Children with this condition typically have intellectual disability, which means they may learn more slowly and need extra support at school and at home. Many also have delayed development in areas like talking, walking, and social skills. Some children have features that affect how they look, such as differences in facial appearance. Seizures, movement problems, and behavioral challenges are also common. The condition can affect multiple body systems, making it a complex disorder that requires care from several different types of specialists. There is currently no cure for TELO2-related intellectual disability-neurodevelopmental disorder. Treatment focuses on managing symptoms and supporting development. This includes therapies like speech therapy, physical therapy, and occupational therapy, as well as medications to control seizures if they occur. Early intervention and ongoing support can make a meaningful difference in quality of life for affected individuals and their families.
Also known as:
Key symptoms:
Intellectual disability (difficulty learning and thinking)Delayed speech and language developmentDelayed motor milestones such as sitting and walkingSeizuresDistinctive facial featuresShort statureBehavioral challenges such as hyperactivity or anxietyPoor muscle tone (hypotonia)Feeding difficulties in infancyAutistic features or social communication difficultiesMovement coordination problems
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 TELO2-related intellectual disability-neurodevelopmental disorder.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for TELO2-related intellectual disability-neurodevelopmental disorder.
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 TELO2-related intellectual disability-neurodevelopmental disorder.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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 specific change was found in the TELO2 gene, and what does it mean for my child's health?,What therapies should we start right away, and how often should my child receive them?,What signs of seizures should I watch for, and what should I do if one happens?,Are there any other health problems we should screen for related to this condition?,Should other family members be tested for this genetic change?,Are there any clinical trials or research studies our family could participate in?,What educational supports and services should we ask for at school?
Common questions about TELO2-related intellectual disability-neurodevelopmental disorder
What is TELO2-related intellectual disability-neurodevelopmental disorder?
TELO2-related intellectual disability-neurodevelopmental disorder is a rare genetic condition caused by changes (variants) in the TELO2 gene. This gene plays an important role in helping cells grow, divide, and repair themselves properly. When the TELO2 gene does not work as it should, it affects the development of the brain and nervous system, leading to a range of challenges that are usually noticed in infancy or early childhood. Children with this condition typically have intellectual disability, which means they may learn more slowly and need extra support at school and at home. Many also
How is TELO2-related intellectual disability-neurodevelopmental disorder inherited?
TELO2-related intellectual disability-neurodevelopmental disorder follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does TELO2-related intellectual disability-neurodevelopmental disorder typically begin?
Typical onset of TELO2-related intellectual disability-neurodevelopmental disorder is infantile. Age of onset can vary across affected individuals.