Developmental delay with autism spectrum disorder and gait instability

Last reviewed

🖨 Print for my doctorAdvocacy Hub →
ORPHA:329195OMIM:615516F84.8
Who is this for?
Show terms as
8Treatment centers

Where are you in your journey?

UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
Report missing data

Overview

Developmental delay with autism spectrum disorder and gait instability is a rare genetic condition that affects brain development and function. Children with this condition typically show delays in reaching developmental milestones such as sitting, walking, and talking. They also display features of autism spectrum disorder, which can include difficulty with social interactions, communication challenges, repetitive behaviors, and restricted interests. A key feature of this condition is gait instability, meaning affected individuals have trouble with balance and coordination when walking, which can range from mild unsteadiness to more significant difficulty with movement. This condition is caused by changes (mutations) in specific genes that play important roles in how the brain develops and how nerve cells communicate with each other. Because the brain is affected in multiple ways, children may also experience intellectual disability, speech and language delays, and behavioral challenges. Some individuals may have seizures or other neurological symptoms. There is currently no cure for this condition. Treatment focuses on managing symptoms and supporting development through a combination of therapies. These may include speech therapy, occupational therapy, physical therapy, behavioral therapy (such as applied behavior analysis for autism-related symptoms), and special education services. Medications may be used to manage specific symptoms like seizures, anxiety, or behavioral difficulties. Early intervention and a coordinated care team can help affected individuals reach their fullest potential.

Also known as:

Key symptoms:

Delayed developmental milestonesDifficulty with social interactionsProblems with communication and languageRepetitive behaviors or restricted interestsUnsteady walking or balance problemsIntellectual disabilitySpeech and language delaysPoor coordinationBehavioral challenges such as tantrums or aggressionDifficulty with fine motor skills like writing or buttoning clothesSeizures in some individualsAttention difficultiesAnxiety or mood changesSensory sensitivities such as to sounds, textures, or lights

Inheritance

Autosomal dominant

Passed on from just one parent; each child has about a 50% chance of inheriting it

Age of Onset

Infantile

Begins in infancy, roughly 1 month to 2 years old

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Developmental delay with autism spectrum disorder and gait instability.

View clinical trials →

No actively recruiting trials found for Developmental delay with autism spectrum disorder and gait instability at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Developmental delay with autism spectrum disorder and gait instability community →

No specialists are currently listed for Developmental delay with autism spectrum disorder and gait instability.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Developmental delay with autism spectrum disorder and gait instability.

Search all travel grants →NORD Financial Assistance ↗

Community

Open Developmental delay with autism spectrum disorder and gait instabilityForum →

No community posts yet. Be the first to share your experience with Developmental delay with autism spectrum disorder and gait instability.

Start the conversation →

Latest news about Developmental delay with autism spectrum disorder and gait instability

3 articles
Clinical trialUNITERAREApr 4, 2026
New Recruiting Trial: TF-CBT for Autistic Youth Pilot Implementation - Open Pilot
Researchers at Dartmouth-Hitchcock Medical Center are testing a therapy called TF-CBT (Trauma-Focused Cognitive Behavioral Therapy) to see if it works well for
Clinical trialUNITERAREApr 3, 2026
New Recruiting Trial: Transcranial Direct Current Stimulation in Children With Autism
Researchers at New York State Institute for Basic Research are testing a new treatment called transcranial direct current stimulation (tDCS) in children with au
Clinical trialCLINICALTRIALSMar 26, 2026
Trial Now Recruiting: Genetic of Intellectual Deficiency and Autism Spectrum Disorders (RaDiCo-GenIDA) (NCT06871696)
Researchers in France are looking for 1,000 families with children who have intellectual disabilities or autism caused by genetic changes. Families will answer
See all news about Developmental delay with autism spectrum disorder and gait instability

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 genetic change is causing my child's condition, and what does it mean for their future?,What therapies should we start right away, and how often should they occur?,Are there any clinical trials or research studies my child might be eligible for?,What should I watch for in terms of seizures or other new symptoms?,How can we best support my child's learning and development at school?,Are there any medications that could help with specific symptoms like behavior or balance?,Should other family members be tested for this genetic change?

Common questions about Developmental delay with autism spectrum disorder and gait instability

What is Developmental delay with autism spectrum disorder and gait instability?

Developmental delay with autism spectrum disorder and gait instability is a rare genetic condition that affects brain development and function. Children with this condition typically show delays in reaching developmental milestones such as sitting, walking, and talking. They also display features of autism spectrum disorder, which can include difficulty with social interactions, communication challenges, repetitive behaviors, and restricted interests. A key feature of this condition is gait instability, meaning affected individuals have trouble with balance and coordination when walking, which

How is Developmental delay with autism spectrum disorder and gait instability inherited?

Developmental delay with autism spectrum disorder and gait instability follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Developmental delay with autism spectrum disorder and gait instability typically begin?

Typical onset of Developmental delay with autism spectrum disorder and gait instability is infantile. Age of onset can vary across affected individuals.