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 |
|---|---|---|
| 5%-29% of people have these symptoms | ||
| Cirrhosis |
Scar tissue replaces healthy tissue in the liver
|
0001394 |
| Duplicated collecting system | 0000081 | |
| Elevated alkaline phosphatase |
Greatly elevated alkaline phosphatase
High serum alkaline phosphatase
Increased alkaline phosphatase
Increased serum alkaline phosphatase
[ more ]
|
0003155 |
| Hepatomegaly |
Enlarged liver
|
0002240 |
| Ichthyosis | 0008064 | |
| Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
| Seborrheic dermatitis | 0001051 | |
| Vesicoureteral reflux | 0000076 | |
| 1%-4% of people have these symptoms | ||
| Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ]
|
0001631 |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of skin pigmentation |
Abnormal pigmentation
Abnormal skin color
Abnormal skin pigmentation
Abnormality of pigmentation
Pigmentary changes
Pigmentary skin changes
Pigmentation anomaly
[ more ]
|
0001000 |
| Abnormality of the pons | 0007361 | |
| Absent septum pellucidum | 0001331 | |
| Absent speech |
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal
[ more ]
|
0001344 |
| Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ]
|
0000463 |
| Birth length greater than 97th percentile | 0003517 | |
| Central |
0011398 | |
| Cerebellar hypoplasia |
Small cerebellum
Underdeveloped cerebellum
[ more ]
|
0001321 |
| Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 |
| Cerebral visual impairment | 0100704 | |
| Coarse facial features |
Coarse facial appearance
|
0000280 |
| Death in infancy |
Infantile death
Lethal in infancy
[ more ]
|
0001522 |
| Delayed myelination | 0012448 | |
| Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ]
|
0005280 |
| Downturned corners of mouth |
Downturned corners of the mouth
Downturned mouth
[ more ]
|
0002714 |
| Elevated hepatic iron concentration |
Increased iron concentration in liver
|
0012465 |
| Epileptic |
0200134 | |
| Flexion |
Flexed joint that cannot be straightened
|
0001371 |
| Generalized myoclonic |
0002123 | |
| Gingival overgrowth |
Gum enlargement
|
0000212 |
| Gliosis | 0002171 | |
| Global |
0001263 | |
| Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
| High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
| Hydrops fetalis | 0001789 | |
| Hyperreflexia |
Increased reflexes
|
0001347 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
| Hypsarrhythmia | 0002521 | |
| Large fontanelles |
Wide fontanelles
|
0000239 |
| Large for gestational age |
Birth weight > 90th percentile
Birthweight > 90th percentile
[ more ]
|
0001520 |
| Lower limb |
0002061 | |
| Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ]
|
0000256 |
| Malar flattening |
Zygomatic flattening
|
0000272 |
| Microdontia |
Decreased width of tooth
|
0000691 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Micropenis |
Short penis
Small penis
[ more ]
|
0000054 |
| Muscular hypotonia of the trunk |
Low muscle tone in trunk
|
0008936 |
| Narrow mouth |
Small mouth
|
0000160 |
| Neuronal loss in |
Loss of brain cells
|
0002529 |
| Olfactory lobe agenesis |
Olfactory lobe absence
|
0001341 |
| Overfolded helix |
Overfolded ears
|
0000396 |
| Overgrowth |
General overgrowth
|
0001548 |
| Postnatal |
0005484 | |
| Prominent occiput |
Prominent back of the skull
Prominent posterior skull
[ more ]
|
0000269 |
| Short neck |
Decreased length of neck
|
0000470 |
| Small nail |
Small nails
|
0001792 |
| Spasticity |
Involuntary muscle stiffness, contraction, or spasm
|
0001257 |
| Triangular mouth |
Triangular shaped mouth
|
0000207 |
| Upper limb spasticity |
Uncontrollable movement in upper arms
|
0006986 |
| Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
| 0003828 | ||
| Widely spaced teeth |
Wide-spaced teeth
Widely-spaced teeth
[ more ]
|
0000687 |
| 0001419 | ||
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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.
