Orpha Number: 79239
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|
|Abnormality of the ovary||
Abnormality of the ovaries
Low blood sugar
Yellowing of the skin[ more ]
|30%-79% of people have these symptoms|
Clouding of the lens of the eye
Cloudy lens[ more ]
|Decreased fertility in females||
Reduced fertility in females
|Failure to thrive||
Weight faltering[ more ]
Poor feeding[ more ]
|Impairment of galactose metabolism||0004915|
Mental retardation, nonspecific
Mental-retardation[ more ]
|Nausea and vomiting||0002017|
|Speech articulation difficulties||0009088|
|5%-29% of people have these symptoms|
Difficulty articulating speech
Impaired gait[ more ]
Infection in blood stream
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.
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.
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.