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||
|Percent of people who have these symptoms is not available through HPO|
|Birth length less than 3rd percentile||0003561|
Tooth decay[ more ]
|Decreased skull ossification||0004331|
|Delayed closure of the anterior fontanelle||0001476|
|Delayed skeletal maturation||
Delayed bone maturation
Delayed skeletal development[ more ]
Widely spaced eyes[ more ]
Low blood calcium levels
Low blood magnesium levels
|Intrauterine growth retardation||
Prenatal growth deficiency
Prenatal growth retardation[ more ]
|Recurrent bacterial infections||
Bacterial infections, recurrent
Frequent bacterial infections
Increased susceptibility to bacterial infections
Recurrent major bacterial infections[ more ]
Small feet[ more ]
|Slender long bone||
Long bones slender
Thin long bones[ more ]
Disproportionately small hands
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.
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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