Orpha Number: 171430
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||
|30%-79% of people have these symptoms|
|Axial muscle weakness||0003327|
Feet or buttocks of fetus positioned near opening of uterus
|Decreased fetal movement||
Less than 10 fetal movements in 12 hours
Swallowing difficulty[ more ]
Decreased muscle movement
Decreased spontaneous movement
Decreased spontaneous movements[ more ]
|Multiple prenatal fractures||
Multiple fractures present at birth
Multiple fractures, present at birth
Numerous multiple fractures present at birth
Numerous multiple fractures that are present at birth[ more ]
High levels of amniotic fluid
Severely decreased muscle tone
|Skeletal muscle atrophy||
Muscle wasting[ more ]
|Type 1 muscle fiber predominance||0003803|
|5%-29% of people have these symptoms|
|Abnormality of the diaphragm||
Diaphragmatic defect[ more ]
Inward turned thumb
|Arthrogryposis multiplex congenita||0002804|
|Edema of the dorsum of hands||0007514|
Low set ears
Lowset ears[ more ]
Small penis[ more ]
Eye muscle paralysis
Premature delivery of affected infants
Preterm delivery[ more ]
Underdeveloped lung[ more ]
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