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
|Cerebral cortical atrophy||0002120|
|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
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.
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.
Got a Great Research Idea? ‘All of Us’ Wants to Hear It!
January 18, 2018
New NCATS Rare Diseases Research Video
December 27, 2017
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
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