Orpha Number: 85285
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|
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal[ more ]
Disorder of involuntary muscle movements
Paralysis or weakness of muscles within or surrounding outer part of eye
|Failure to thrive in infancy||
Faltering weight in infancy
Weight faltering in infancy[ more ]
Hearing defect[ more ]
Decreased muscle tone in infant
Mental retardation, nonspecific
Mental-retardation[ more ]
|Poor head control||0002421|
Decreased body height
Small stature[ more ]
Involuntary muscle stiffness, contraction, or spasm
|5%-29% of people have these symptoms|
|Cerebral cortical atrophy||
Decrease in size of the outer layer of the brain due to loss of brain cells
|Deeply set eye||
Deep set eye
Sunken eye[ more ]
|Elbow flexion contracture||
Contractures of elbows
Elbow contractures[ more ]
|Gastrostomy tube feeding in infancy||0011471|
Increased palatal height[ more ]
|Knee flexion contracture||0006380|
|Narrow nasal bridge||
Narrow bridge of nose
Nasal Bridge, Narrow
Nasal bridge, thin[ more ]
|Percent of people who have these symptoms is not available through HPO|
Retarded growth[ more ]
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
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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