Orpha Number: 621
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 | Learn More: HPO ID |
---|---|---|
80%-99% of people have these symptoms | ||
Cyanosis |
Blue discoloration of the skin
|
0000961 |
Methemoglobinemia | 0012119 | |
30%-79% of people have these symptoms | ||
Abnormality of the nail | 0001597 | |
Exertional dyspnea | 0002875 | |
Lip discoloration | 0025118 | |
5%-29% of people have these symptoms | ||
Athetosis |
Involuntary writhing movements in fingers, hands, toes, and feet
|
0002305 |
Blue sclerae |
Whites of eyes are a bluish-gray color
|
0000592 |
Cerebellar atrophy |
Degeneration of cerebellum
|
0001272 |
Cerebral hypomyelination | 0006808 | |
Esotropia |
Inward turning cross eyed
|
0000565 |
Frontal cortical atrophy | 0006913 | |
Global brain atrophy |
Generalized brain degeneration
|
0002283 |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ]
|
0010864 | |
Limb |
0002451 | |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
Severe global |
0011344 | |
Spastic tetraplegia | 0002510 | |
Temporal cortical atrophy | 0007112 | |
1%-4% of people have these symptoms | ||
Delayed myelination | 0012448 | |
0001250 | ||
Small basal ganglia | 0012697 | |
Small for gestational age |
Birth weight less than 10th percentile
Low birth weight
[ more ]
|
0001518 |
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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