Orpha Number: 356961
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 | ||
| Global |
0001263 | |
| Hypsarrhythmia | 0002521 | |
| Infantile muscular |
Decreased muscle tone in infant
|
0008947 |
| 30%-79% of people have these symptoms | ||
| Abnormal facial shape |
Unusual facial appearance
|
0001999 |
| Abnormality of the |
Immunological abnormality
|
0002715 |
| Abnormality of the respiratory system | 0002086 | |
| Cerebellar atrophy |
Degeneration of cerebellum
|
0001272 |
| Cerebral visual impairment | 0100704 | |
| Decreased galactosylation of N-linked |
0012348 | |
| Decreased sialylation of O-linked protein glycosylation | 0012363 | |
| Delayed myelination | 0012448 | |
| Elevated brain N-acetyl aspartate level by MRS | 0025053 | |
| Elevated hepatic transaminase |
High liver enzymes
|
0002910 |
| Failure to thrive in infancy |
Faltering weight in infancy
Weight faltering in infancy
[ more ]
|
0001531 |
| Inability to walk | 0002540 | |
| Infantile spasms | 0012469 | |
|
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ]
|
0010864 | |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
| Muscular hypotonia of the trunk |
Low muscle tone in trunk
|
0008936 |
| Nasogastric tube feeding | 0040288 | |
| 0002650 | ||
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| 5%-29% of people have these symptoms | ||
| Anisometropia | 0012803 | |
| Atrophy/Degeneration affecting the brainstem | 0007366 | |
| Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
| Cerebral white matter atrophy | 0012762 | |
| Coxa valga | 0002673 | |
| 0001363 | ||
| 0011185 | ||
| Exotropia |
Outward facing eye ball
|
0000577 |
| Gastroesophageal reflux |
Heartburn
Acid reflux disease
Acid reflux
[ more ]
|
0002020 |
| Hypopigmentation of the skin |
Patchy lightened skin
|
0001010 |
| Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
| Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
| Inverted nipples | 0003186 | |
| Metatarsus adductus |
Front half of foot turns inward
|
0001840 |
| Paroxysmal involuntary eye movements | 0007704 | |
| Precocious puberty |
Early onset of puberty
Early puberty
[ more ]
|
0000826 |
| Prenatal maternal abnormality | 0002686 | |
| Sensorineural hearing impairment | 0000407 | |
| Short corpus callosum | 0200012 | |
| Spastic tetraparesis | 0001285 | |
| Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
| Thickened nuchal skin fold |
Thickened skin folds of neck
Thickened skin over the neck
[ more ]
|
0000474 |
| 1%-4% of people have these symptoms | ||
| Abnormal renal morphology |
Abnormally shaped kidney
Kidney malformation
Kidney structure issue
Structural kidney abnormalities
[ more ]
|
0012210 |
| Abnormality of midbrain morphology |
Abnormal shape of midbrain
Abnormality of the midbrain
[ more ]
|
0002418 |
| Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
| Cortical dysplasia | 0002539 | |
| Dandy-Walker malformation | 0001305 | |
| Dilation of lateral ventricles | 0006956 | |
| Hip subluxation |
Partial hip dislocation
|
0030043 |
| Hypoplastic hippocampus |
Small hippocampus
|
0025517 |
| Increased circulating thyroglobulin level | 0025484 | |
| Increased thyroid-stimulating |
0002925 | |
| Joint hypermobility |
Double-Jointed
Flexible joints
Increased mobility of joints
[ more ]
|
0001382 |
| Osteopenia | 0000938 | |
| Short tibia |
Short shinbone
Short skankbone
[ more ]
|
0005736 |
| Tetralogy of Fallot | 0001636 | |
| Transient nephrotic |
0008695 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Cerebellar hypoplasia |
Small cerebellum
Underdeveloped cerebellum
[ more ]
|
0001321 |
| Coarse facial features |
Coarse facial appearance
|
0000280 |
| Epileptic |
0200134 | |
| Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| Infantile onset |
Onset in first year of life
Onset in infancy
[ more ]
|
0003593 |
|
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
| Ocular flutter | 0031931 | |
| Open mouth |
Gaped jawed appearance
Gaped mouthed appearance
Slack jawed appearance
[ more ]
|
0000194 |
| Recurrent infections |
Frequent infections
Frequent, severe infections
Increased frequency of infection
infections, recurrent
Predisposition to infections
Susceptibility to infection
[ more ]
|
0002719 |
| Rod-cone dystrophy | 0000510 | |
| 0001250 | ||
| Somatic mosaicism | 0001442 | |
| Thick eyebrow |
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows
[ more ]
|
0000574 |
| Thick vermilion border |
Full lips
Increased volume of lip
Plump lips
Prominent lips
Thick lips
[ more ]
|
0012471 |
| Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ]
|
0000431 |
| 0001423 | ||
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.
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.
