Overview
X-linked intellectual disability-hypotonia-movement disorder syndrome is a rare genetic condition that primarily affects males. It is caused by changes (mutations) in a gene located on the X chromosome, which is one of the two sex chromosomes. This syndrome affects the brain and nervous system, leading to a combination of intellectual disability, low muscle tone (hypotonia), and abnormal movements. Children with this condition typically show signs early in life, including developmental delays, difficulty reaching milestones like sitting, crawling, and walking, and reduced muscle tone that makes them appear "floppy." Movement problems can include involuntary movements, tremors, or difficulty coordinating voluntary movements. Intellectual disability ranges from mild to severe and affects learning, communication, and daily functioning. There is currently no cure for this syndrome. Treatment focuses on managing symptoms and supporting development. This may include physical therapy to improve muscle strength and coordination, occupational therapy to help with daily tasks, speech therapy for communication difficulties, and special education services. Some children may also benefit from medications to help control movement problems. A team of specialists typically works together to provide the best care for affected individuals.
Key symptoms:
Intellectual disabilityLow muscle tone (floppiness)Abnormal or involuntary movementsDelayed motor milestones like sitting and walkingSpeech and language delaysDifficulty with coordinationLearning difficultiesTremors or shaking movementsPoor balanceBehavioral challengesFeeding difficulties in infancyDifficulty with fine motor skills like writing or buttoning clothes
Clinical phenotype terms (23)— hover any for plain English
X-linked recessive
Carried on the X chromosome; typically affects males more than females
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for X-linked intellectual disability-hypotonia-movement disorder syndrome.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for X-linked intellectual disability-hypotonia-movement disorder syndrome.
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 X-linked intellectual disability-hypotonia-movement disorder syndrome.
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 is the specific genetic change found in my child, and how does it affect the body?,What therapies should we start right away, and how often should they occur?,Are there any medications that could help with the movement problems?,What kind of educational support will my child need?,Should other family members be tested for this genetic change?,Are there any clinical trials or research studies we should know about?,What should we watch for as warning signs that something is getting worse?
Common questions about X-linked intellectual disability-hypotonia-movement disorder syndrome
What is X-linked intellectual disability-hypotonia-movement disorder syndrome?
X-linked intellectual disability-hypotonia-movement disorder syndrome is a rare genetic condition that primarily affects males. It is caused by changes (mutations) in a gene located on the X chromosome, which is one of the two sex chromosomes. This syndrome affects the brain and nervous system, leading to a combination of intellectual disability, low muscle tone (hypotonia), and abnormal movements. Children with this condition typically show signs early in life, including developmental delays, difficulty reaching milestones like sitting, crawling, and walking, and reduced muscle tone that mak
How is X-linked intellectual disability-hypotonia-movement disorder syndrome inherited?
X-linked intellectual disability-hypotonia-movement disorder syndrome follows a x-linked recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does X-linked intellectual disability-hypotonia-movement disorder syndrome typically begin?
Typical onset of X-linked intellectual disability-hypotonia-movement disorder syndrome is infantile. Age of onset can vary across affected individuals.