Overview
X-linked intellectual disability, Golabi-Ito-Hall type (also called Golabi-Ito-Hall syndrome) is a very rare genetic condition that primarily affects males. It is caused by a change (mutation) in a gene located on the X chromosome, which is one of the two sex chromosomes. The condition is characterized by intellectual disability that can range from mild to severe, along with distinctive facial features and other developmental differences. Affected individuals may have a small head (microcephaly), short stature, and certain facial characteristics such as a broad nasal bridge, widely spaced eyes, and a thin upper lip. Some individuals may also experience seizures, behavioral challenges, and delays in reaching developmental milestones such as sitting, walking, and talking. Because this is an X-linked condition, it mainly affects boys and men, while females who carry the gene change are usually unaffected or only mildly affected. There is currently no cure for this condition. Treatment focuses on managing symptoms and supporting development through therapies such as speech therapy, occupational therapy, physical therapy, and special education programs. Seizures, if present, are managed with anti-seizure medications. Early intervention and supportive care can help affected individuals reach their fullest potential.
Key symptoms:
Intellectual disabilityDelayed speech and language developmentSmall head size (microcephaly)Short statureSeizures or epilepsyWidely spaced eyesBroad nasal bridgeThin upper lipDelayed motor milestones such as walkingBehavioral difficultiesLow muscle toneLearning difficultiesDistinctive facial features
Clinical phenotype terms (19)— 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, Golabi-Ito-Hall type.
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Specialists
View all specialists →No specialists are currently listed for X-linked intellectual disability, Golabi-Ito-Hall type.
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, Golabi-Ito-Hall type.
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 genetic change causing my child's condition, and has it been fully identified?,What therapies do you recommend starting right away?,Should my child be evaluated for seizures, and if so, how often?,Are there other family members who should be tested as carriers?,What educational supports should we request from the school?,How often should we schedule follow-up visits, and with which specialists?,Are there any clinical trials or research studies we could participate in?
Common questions about X-linked intellectual disability, Golabi-Ito-Hall type
What is X-linked intellectual disability, Golabi-Ito-Hall type?
X-linked intellectual disability, Golabi-Ito-Hall type (also called Golabi-Ito-Hall syndrome) is a very rare genetic condition that primarily affects males. It is caused by a change (mutation) in a gene located on the X chromosome, which is one of the two sex chromosomes. The condition is characterized by intellectual disability that can range from mild to severe, along with distinctive facial features and other developmental differences. Affected individuals may have a small head (microcephaly), short stature, and certain facial characteristics such as a broad nasal bridge, widely spaced eyes
How is X-linked intellectual disability, Golabi-Ito-Hall type inherited?
X-linked intellectual disability, Golabi-Ito-Hall type 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, Golabi-Ito-Hall type typically begin?
Typical onset of X-linked intellectual disability, Golabi-Ito-Hall type is infantile. Age of onset can vary across affected individuals.