Orpha Number: 226298
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 | ||
Abdominal distention |
Abdominal bloating
Abdominal swelling
Belly bloating
Bloating
[ more ]
|
0003270 |
Abnormal fingernail morphology |
Abnormal fingernails
Abnormality of the fingernails
[ more ]
|
0001231 |
Coarse facial features |
Coarse facial appearance
|
0000280 |
Constipation | 0002019 | |
Dry skin | 0000958 | |
Fatigue |
Tired
Tiredness
[ more ]
|
0012378 |
Feeding difficulties |
Feeding problems
Poor feeding
[ more ]
|
0011968 |
Hoarse cry | 0001615 | |
Yellow skin
Yellowing of the skin
[ more ]
|
0000952 | |
Large fontanelles |
Wide fontanelles
|
0000239 |
Macroglossia |
Abnormally large tongue
Increased size of tongue
Large tongue
[ more ]
|
0000158 |
Muscular |
Low or weak muscle tone
|
0001252 |
Sleep disturbance |
Difficulty sleeping
Trouble sleeping
[ more ]
|
0002360 |
Umbilical hernia | 0001537 | |
30%-79% of people have these symptoms | ||
Abnormal eyebrow morphology |
Abnormality of the eyebrow
|
0000534 |
Abnormality of the hypothalamus-pituitary axis | 0000864 | |
Central hypothyroidism | 0011787 | |
Cleft roof of mouth
|
0000175 | |
Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ]
|
0000750 |
Depressivity |
Depression
|
0000716 |
Septo-optic dysplasia | 0100842 |
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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