Overview
X-linked intellectual disability, Martinez type, is an extremely rare genetic condition that was originally described in a small number of families. It is classified as an X-linked form of intellectual disability, meaning the genetic change responsible is located on the X chromosome. This condition primarily affects males, who typically show intellectual disability of varying severity along with other developmental and physical features. Because this entry has been marked as 'obsolete' in medical databases like Orphanet, it is possible that the condition has been reclassified, merged with another diagnosis, or better understood under a different name as genetic knowledge has advanced. Patients and families who were previously given this diagnosis may now fall under a broader or more specific category of X-linked intellectual disability. The key features historically associated with this condition include intellectual disability, developmental delays, and possibly some distinctive physical features, though detailed clinical descriptions are very limited due to the rarity of reported cases. There is no specific cure, and treatment has traditionally focused on supportive care, educational support, and therapies to help with developmental challenges. Families with this diagnosis should work closely with a clinical geneticist to determine whether updated genetic testing might provide a more precise diagnosis under current classification systems.
Key symptoms:
Intellectual disabilityDelayed speech and language developmentDelayed motor milestones such as sitting and walkingLearning difficultiesBehavioral challengesPossible distinctive facial featuresPoor muscle tone in infancyDifficulty with daily living skills
X-linked recessive
Carried on the X chromosome; typically affects males more than females
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: X-linked intellectual disability, Martinez type.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for OBSOLETE: X-linked intellectual disability, Martinez type at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for OBSOLETE: X-linked intellectual disability, Martinez 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 OBSOLETE: X-linked intellectual disability, Martinez type.
Community
No community posts yet. Be the first to share your experience with OBSOLETE: X-linked intellectual disability, Martinez type.
Start the conversation →Latest news about OBSOLETE: X-linked intellectual disability, Martinez type
No recent news articles for OBSOLETE: X-linked intellectual disability, Martinez type.
Follow this condition to be notified when news becomes available.
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.Has this diagnosis been reclassified under a more current name, and should we pursue updated genetic testing?,What specific genetic tests would you recommend to better understand my child's condition?,What therapies and early intervention services should we start right away?,What is the expected range of intellectual ability, and how can we best support development?,Are there any other medical issues we should screen for related to this condition?,What educational accommodations should we request at school?,Are there any clinical trials or research studies we could participate in?
Common questions about OBSOLETE: X-linked intellectual disability, Martinez type
What is OBSOLETE: X-linked intellectual disability, Martinez type?
X-linked intellectual disability, Martinez type, is an extremely rare genetic condition that was originally described in a small number of families. It is classified as an X-linked form of intellectual disability, meaning the genetic change responsible is located on the X chromosome. This condition primarily affects males, who typically show intellectual disability of varying severity along with other developmental and physical features. Because this entry has been marked as 'obsolete' in medical databases like Orphanet, it is possible that the condition has been reclassified, merged with anot
How is OBSOLETE: X-linked intellectual disability, Martinez type inherited?
OBSOLETE: X-linked intellectual disability, Martinez type follows a x-linked recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does OBSOLETE: X-linked intellectual disability, Martinez type typically begin?
Typical onset of OBSOLETE: X-linked intellectual disability, Martinez type is childhood. Age of onset can vary across affected individuals.