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 | ||
| High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
| Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
| 30%-79% of people have these symptoms | ||
| Abnormal subcutaneous fat |
Abnormal fat tissue distribution below the skin
|
0007552 |
| Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ]
|
0000463 |
| Cerebellar hypoplasia |
Small cerebellum
Underdeveloped cerebellum
[ more ]
|
0001321 |
| Delayed myelination | 0012448 | |
| Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ]
|
0000750 |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
| Esotropia |
Inward turning cross eyed
|
0000565 |
| Feeding difficulties |
Feeding problems
Poor feeding
[ more ]
|
0011968 |
| Global |
0001263 | |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Hyporeflexia |
Decreased reflex response
Decreased reflexes
[ more ]
|
0001265 |
| Inverted nipples | 0003186 | |
| Joint laxity |
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ]
|
0001388 |
| Kyphoscoliosis | 0002751 | |
| Lipodystrophy |
Inability to make and keep healthy fat tissue
|
0009125 |
| Long face |
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face
[ more ]
|
0000276 |
| Long fingers | 0100807 | |
| Long philtrum | 0000343 | |
| Mandibular prognathia |
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ]
|
0000303 |
| Muscular |
Low muscle tone in trunk
|
0008936 |
| Osteopenia | 0000938 | |
| 0000939 | ||
| Pes planus |
Flat feet
Flat foot
[ more ]
|
0001763 |
| Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ]
|
0011220 |
| Prominent nose |
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose
[ more ]
|
0000448 |
| Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ]
|
0000278 |
| 0001250 | ||
| Thin upper lip vermilion |
Thin upper lip
|
0000219 |
| Vomiting |
Throwing up
|
0002013 |
| Wide mouth |
Broad mouth
Large mouth
[ more ]
|
0000154 |
| 5%-29% of people have these symptoms | ||
| Abnormal liver parenchyma morphology | 0030146 | |
| Abnormal renal tubule morphology | 0000091 | |
| Aplasia of the ovary |
Absent ovary
|
0010463 |
| Aspiration pneumonia | 0011951 | |
| 0001251 | ||
|
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
| Decreased testicular size |
Small testes
Small testis
[ more ]
|
0008734 |
| Elevated hepatic transaminase |
High liver enzymes
|
0002910 |
| Enlarged cisterna magna | 0002280 | |
| Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
| Fever | 0001945 | |
| Growth |
0000845 | |
| Hepatic fibrosis | 0001395 | |
| Hyperinsulinemia | 0000842 | |
| Hyperplastic labia majora | 0012882 | |
| Hypoalbuminemia |
Low blood albumin
|
0003073 |
| Hypogonadotropic |
0000044 | |
| Increased circulating prolactin concentration | 0000870 | |
| Increased thyroid-stimulating hormone level | 0002925 | |
| Insulin resistance |
Body fails to respond to insulin
|
0000855 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Macrotia |
Large ears
|
0000400 |
| Multiple joint |
0002828 | |
| Multiple renal cysts |
Multiple kidney cysts
|
0005562 |
| Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ]
|
0000545 |
| Nephrotic |
0000100 | |
| Pericardial effusion |
Fluid around heart
|
0001698 |
| 0009830 | ||
| Photoreceptor layer loss on macular OCT | 0030609 | |
| Prominent nasal bridge |
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge
[ more ]
|
0000426 |
|
High urine protein levels
Protein in urine
[ more ]
|
0000093 | |
| Reduced antithrombin III activity | 0001976 | |
| Reduced factor IX activity | 0011858 | |
| Reduced factor XI activity | 0001929 | |
| Reduced thyroxin-binding globulin | 0012509 | |
| Respiratory distress |
Breathing difficulties
Difficulty breathing
[ more ]
|
0002098 |
| Rod-cone dystrophy | 0000510 | |
| 1%-4% of people have these symptoms | ||
| Anasarca | 0012050 | |
| Angina pectoris | 0001681 | |
| Dandy-Walker malformation | 0001305 | |
| Deep venous thrombosis |
Blood clot in a deep vein
|
0002625 |
| Hypertrophic |
Enlarged and thickened heart muscle
|
0001639 |
| Impaired antigen-specific response | 0031404 | |
| Impaired neutrophil chemotaxis | 0040238 | |
| Intracranial hemorrhage |
Bleeding within the skull
|
0002170 |
| Lymphedema |
Swelling caused by excess lymph fluid under skin
|
0001004 |
| Pericarditis |
Swelling or irritation of membrane around heart
|
0001701 |
| Platyspondyly |
Flattened vertebrae
|
0000926 |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of the amniotic fluid | 0001560 | |
| 0000007 | ||
| Cardiomyopathy |
Disease of the heart muscle
|
0001638 |
| Decreased circulating IgA level | 0002720 | |
| Decreased circulating IgG level | 0004315 | |
| 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 |
| Diarrhea |
Watery stool
|
0002014 |
| Feeding difficulties in infancy | 0008872 | |
| Flexion contracture |
Flexed joint that cannot be straightened
|
0001371 |
| Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| Hepatic steatosis |
Fatty infiltration of liver
Fatty liver
[ more ]
|
0001397 |
| Hepatomegaly |
Enlarged liver
|
0002240 |
| Hypergonadotropic hypogonadism | 0000815 | |
| Hypocholesterolemia |
Decreased circulating cholesterol level
|
0003146 |
| Hypothyroidism |
Underactive thyroid
|
0000821 |
| Kyphosis |
Hunched back
Round back
[ more ]
|
0002808 |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
| Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
| Nonimmune hydrops fetalis | 0001790 | |
|
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
| Olivopontocerebellar hypoplasia | 0006955 | |
| Polyneuropathy |
Peripheral nerve disease
|
0001271 |
| Premature ovarian insufficiency |
Early menopause
Premature menopause
Premature ovarian failure
[ more ]
|
0008209 |
| Prolonged partial thromboplastin time | 0003645 | |
| Prolonged prothrombin time | 0008151 | |
| Proximal tubulopathy | 0000114 | |
| Psychomotor retardation | 0025356 | |
| Renal cyst |
Kidney cyst
|
0000107 |
| Stroke-like episode | 0002401 | |
| Thrombocytosis |
Increased number of platelets in blood
|
0001894 |
| Type I transferrin isoform profile | 0003642 | |
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.
