Orpha Number: 3204
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 coagulation||0001928|
|Abnormality of the musculature||
Low number of red blood cells or hemoglobin
|Deeply set eye||
Deep set eye
Sunken eye[ more ]
Pupillary constriction[ more ]
|Neurological speech impairment||
Speech impediment[ more ]
Red or purple spots on the skin
Decreased body height
Small stature[ more ]
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.
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