Orpha Number: 3322
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|
Underdeveloped cerebellum[ more ]
|Failure to thrive||
Weight faltering[ more ]
Decreased immune function
Mental retardation, nonspecific
Mental-retardation[ more ]
|Intrauterine growth retardation||
Prenatal growth deficiency
Prenatal growth retardation[ more ]
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference[ more ]
Decreased body height
Small stature[ more ]
Low platelet count
|30%-79% of people have these symptoms|
|Abnormality of coagulation||
Abnormal blood clotting
Low number of red blood cells or hemoglobin
|Cerebral cortical atrophy||
Decrease in size of the outer layer of the brain due to loss of brain cells
|Excessive wrinkled skin||0007392|
|Generalized hypopigmentation of hair||0011358|
Poor nail formation
Oral white patch
|Premature graying of hair||
Premature hair graying[ more ]
|Sparse scalp hair||
Scalp hair, thinning
Sparse, thin scalp hair
sparse-absent scalp hair[ more ]
|5%-29% of people have these symptoms|
|Bone marrow hypocellularity||
Bone marrow failure
Abnormal deposits of calcium in the brain
Decreased reflex response
Decreased reflexes[ more ]
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.
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.