Orpha Number: 320385
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 | ||
Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ]
|
0002205 |
30%-79% of people have these symptoms | ||
Areflexia |
Absent tendon reflexes
|
0001284 |
Brachycephaly |
Short and broad skull
|
0000248 |
Broad neck |
Increased width of neck
Wide neck
[ more ]
|
0000475 |
Dental crowding |
Crowded teeth
Dental overcrowding
Overcrowding of teeth
[ more ]
|
0000678 |
Difficulty articulating speech
|
0001260 | |
Dysmetria |
Lack of coordination of movement
|
0001310 |
Full cheeks |
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks
[ more ]
|
0000293 |
Gait |
Inability to coordinate movements when walking
|
0002066 |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
Global |
0001263 | |
Hypomimic face |
Dull facial expression
|
0000338 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
Low anterior hairline |
Low frontal hairline
Low-set frontal hairline
[ more ]
|
0000294 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
Round face |
Circular face
Round facial appearance
Round facial shape
[ more ]
|
0000311 |
Short neck |
Decreased length of neck
|
0000470 |
Decreased body height
Small stature
[ more ]
|
0004322 | |
5%-29% of people have these symptoms | ||
Central apnea | 0002871 | |
Cerebellar atrophy |
Degeneration of cerebellum
|
0001272 |
Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
0001250 | ||
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ]
|
0002020 |
Spastic gait |
Spastic walk
|
0002064 |
Spastic paraplegia | 0001258 |
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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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