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 | ||
| Abnormality of retinal pigmentation | 0007703 | |
| Agenesis of |
0001274 | |
|
Disease of the heart muscle
|
0001638 | |
| Cellular |
0005374 | |
| Death in infancy |
Infantile death
Lethal in infancy
[ more ]
|
0001522 |
| 0002353 | ||
| Global |
0001263 | |
| Hypopigmentation of the skin |
Patchy lightened skin
|
0001010 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Muscular |
Low or weak muscle tone
|
0001252 |
| Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ]
|
0002205 |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Ureteral atresia | 0005999 | |
| 30%-79% of people have these symptoms | ||
|
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
| Cerebellar hypoplasia |
Small cerebellum
Underdeveloped cerebellum
[ more ]
|
0001321 |
| Depressed nasal tip |
Caved in nasal tip
Depressed tip of nose
Flat nasal tip
Flat tip of nose
Flattened nasal tip
Nasal tip, depressed
[ more ]
|
0000437 |
| Gray matter heterotopia | 0002282 | |
| High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
| Hypoplasia of the pons | 0012110 | |
|
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
| Optic atrophy | 0000648 | |
| Renal tubular acidosis |
Accumulation of acid in body due to kidney problem
|
0001947 |
| 0001250 | ||
| 5%-29% of people have these symptoms | ||
| Abnormal macular morphology | 0001103 | |
| Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 |
| Decreased circulating IgG2 level | 0008348 | |
| Feeding difficulties in infancy | 0008872 | |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Hypotelorism |
Abnormally close eyes
Closely spaced eyes
[ more ]
|
0000601 |
| Joint stiffness |
Stiff joint
Stiff joints
[ more ]
|
0001387 |
| Sensorineural hearing impairment | 0000407 | |
| Sleep disturbance |
Difficulty sleeping
Trouble sleeping
[ more ]
|
0002360 |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormal posturing | 0002533 | |
| Abnormality of the thymus | 0000777 | |
| Acidosis | 0001941 | |
| Albinism | 0001022 | |
| 0000007 | ||
| Cerebellar vermis hypoplasia | 0001320 | |
| Chronic mucocutaneous candidiasis | 0002728 | |
|
Cleft roof of mouth
|
0000175 | |
| Cleft upper lip |
Harelip
|
0000204 |
|
Symptoms present at birth
|
0003577 | |
| Congestive heart failure |
Cardiac failure
Cardiac failures
Heart failure
[ more ]
|
0001635 |
| Cutaneous anergy | 0002965 | |
| Decreased circulating IgG level | 0004315 | |
| Decreased proportion of CD4-positive helper T |
0005407 | |
| Decreased T cell activation | 0005419 | |
| Developmental cataract |
Clouding of the lens of the eye at birth
|
0000519 |
| Dilated cardiomyopathy |
Stretched and thinned heart muscle
|
0001644 |
| Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
| Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| Growth delay |
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ]
|
0001510 |
| Hypopigmentation of hair |
Loss of hair color
|
0005599 |
| Hypopigmentation of the fundus | 0007894 | |
| Immunodeficiency |
Decreased immune function
|
0002721 |
| Left ventricular hypertrophy | 0001712 | |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Motor delay | 0001270 | |
| Myopathy |
Muscle tissue disease
|
0003198 |
| Ocular albinism |
Absent pigmentation in the eye
|
0001107 |
| Penile hypospadias | 0003244 | |
| Psychomotor retardation | 0025356 | |
| Recurrent bacterial infections |
Bacterial infections, recurrent
Frequent bacterial infections
Increased susceptibility to bacterial infections
Recurrent major bacterial infections
[ more ]
|
0002718 |
| Recurrent fungal infections | 0002841 | |
| Recurrent viral infections | 0004429 | |
| Schizencephaly | 0010636 | |
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.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
|
Conditions with similar signs and symptoms from Orphanet
|
|---|
|
Differential diagnoses include Marinesco-Sjogren syndrome, Chédiak-Higashi syndrome, Griscelli syndrome, DiGeorge syndrome or ataxia-telegiectasia (see these terms).
Visit the
Orphanet disease page
for more information.
|
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.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
