This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|Aplasia/Hypoplasia of the thymus||
Absent/underdeveloped thymus[ more ]
Delayed pubertal development
Delayed pubertal growth
Pubertal delay[ more ]
|Elevated hepatic transaminase||
High liver enzymes
Impaired gait[ more ]
Decreased blood lymphocyte number
Low lymphocyte number[ more ]
Involuntary, rapid, rhythmic eye movements
|Premature graying of hair||
Premature hair graying[ more ]
|Recurrent respiratory infections||
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections[ more ]
Squint eyes[ more ]
|Telangiectasia of the skin||0100585|
|30%-79% of people have these symptoms|
Difficulty articulating speech
|Hypopigmentation of hair||
Loss of hair color
Decreased body height
Small stature[ more ]
|Skeletal muscle atrophy||
Muscle wasting[ more ]
Involuntary muscle stiffness, contraction, or spasm
|5%-29% of people have these symptoms|
Abnormality of the testis
|Aplasia/Hypoplasia of the skin||
Absent/underdeveloped skin[ more ]
Abnormality of cognition
Mental impairment[ more ]
|Failure to thrive||
Weight faltering[ more ]
|Multiple cafe-au-lait spots||0007565|
Type 2 diabetes
Type II diabetes[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Abnormal hair morphology||
Abnormality of the hair
Hair abnormality[ more ]
Permanent enlargement of the airways of the lungs
Small dilated blood vessels near membrane covering front of eye and eyelids
|Decreased circulating IgA level||0002720|
|Decreased circulating IgG2 level||0008348|
|Decreased proportion of CD4-positive T
|Defective B cell differentiation||0005357|
|Hypoplasia of the thymus||
Cancer of lymphatic system
|Reduced tendon reflexes||0001315|
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
The differential diagnosis should include Ataxia - oculomotor apraxia, types 1 and2 (see these terms).
Visit the Orphanet disease page for more information.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
How might ataxia telangiectasia affect a person's ability to move and speak? See answer