Orpha Number: 140969
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||
|30%-79% of people have these symptoms|
Slowed or blocked flow of bile from liver
|5%-29% of people have these symptoms|
Abnormality of cognition
Mental impairment[ more ]
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference[ more ]
|1%-4% of people have these symptoms|
|Percent of people who have these symptoms is not available through HPO|
Low number of red blood cells or hemoglobin
Cone-shaped end part of bone
Increased palatal height[ more ]
|Hypoplasia of the capital femoral epiphysis||
Small innermost thighbone end part
Underdevelopment of the innermost thighbone end part[ more ]
Onset in first year of life
Onset in infancy[ more ]
Abnormally large tongue
Increased size of tongue
Large tongue[ more ]
Decreased width of tooth
Decreased width of the forehead
Involuntary, rapid, rhythmic eye movements
Protruding forehead[ more ]
|Short femoral neck||
Short neck of thighbone
|Short phalanx of finger||
Short finger bones
Decreased body height
Small stature[ more ]
|Stage 5 chronic
Triangular skull shape
Wedge shaped skull[ more ]
Loss of vision
Vision loss[ more ]
Large mouth[ more ]
|Widely spaced teeth||
Widely-spaced teeth[ more ]
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.
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.