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 | ||
Absent brainstem auditory responses | 0004463 | |
Basal ganglia calcification | 0002135 | |
Contractures of the foot joints
|
0008366 | |
Cutaneous photosensitivity |
Photosensitive skin
Photosensitive skin rashes
Photosensitivity
Sensitivity to sunlight
Skin photosensitivity
Sun sensitivity
[ more ]
|
0000992 |
Deeply set eye |
Deep set eye
Deep-set eyes
Sunken eye
[ more ]
|
0000490 |
Elevated hepatic transaminase |
High liver enzymes
|
0002910 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
Pigmentary retinopathy | 0000580 | |
Postnatal growth retardation |
Growth delay as children
|
0008897 |
30%-79% of people have these symptoms | ||
Abnormality of peripheral nerve conduction | 0003134 | |
Abnormality of temperature regulation |
Poor temperature regulation
|
0004370 |
0001251 | ||
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
Decreased lacrimation |
Decreased tear secretion
|
0000633 |
Diarrhea |
Watery stool
|
0002014 |
Difficulty walking |
Difficulty in walking
|
0002355 |
Hyperreflexia |
Increased reflexes
|
0001347 |
0000822 | ||
Hypohidrosis |
Decreased ability to sweat
Decreased sweating
Sweating, decreased
[ more ]
|
0000966 |
Increased blood urea nitrogen | 0003138 | |
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 |
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 |
Optic atrophy | 0000648 | |
Postural instability |
Balance impairment
|
0002172 |
Progeroid facial appearance |
Premature aged appearance
|
0005328 |
High urine protein levels
Protein in urine
[ more ]
|
0000093 | |
0002650 | ||
Tremor | 0001337 | |
Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ]
|
0000505 |
5%-29% of people have these symptoms | ||
Low number of red blood cells or hemoglobin
|
0001903 | |
Anodontia |
Failure of development of all teeth
|
0000674 |
Anophthalmia |
Absence of eyeballs
Failure of development of eyeball
Missing eyeball
No eyeball
[ more ]
|
0000528 |
Conjunctivitis |
Pink eye
|
0000509 |
Delayed eruption of primary teeth |
Delayed eruption of baby teeth
Delayed eruption of milk teeth
Late eruption of baby teeth
Late eruption of milk teeth
[ more ]
|
0000680 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Hypermelanotic macule |
Hyperpigmented spots
|
0001034 |
Hypoplasia of dental enamel |
Underdeveloped teeth enamel
|
0006297 |
Hypoplasia of the primary teeth |
Decreased size of baby teeth
Decreased size of milk teeth
Small baby teeth
Small milk teeth
Underdevelopment of baby teeth
Underdevelopment of milk teeth
[ more ]
|
0006334 |
Lower limb |
0002061 | |
Macrotia |
Large ears
|
0000400 |
Muscular |
Low or weak muscle tone
|
0001252 |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Photophobia |
Extreme sensitivity of the eyes to light
Light hypersensitivity
[ more ]
|
0000613 |
Renal insufficiency |
Renal failure
Renal failure in adulthood
[ more ]
|
0000083 |
Scarring | 0100699 | |
0001250 | ||
Short chin |
Decreased height of chin
Short lower third of face
[ more ]
|
0000331 |
Sleep disturbance |
Difficulty sleeping
Trouble sleeping
[ more ]
|
0002360 |
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
Uveitis | 0000554 | |
Widely spaced primary teeth |
Wide gaps between baby teeth
Widely spaced baby teeth
Widely spaced milk teeth
[ more ]
|
0006313 |
1%-4% of people have these symptoms | ||
Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
Male |
Decreased function of male gonad
|
0000026 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormal auditory evoked potentials | 0006958 | |
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 pinna |
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears
[ more ]
|
0000377 |
Abnormality of visual evoked potentials | 0000649 | |
Anhidrosis |
Lack of sweating
Sweating dysfunction
[ more ]
|
0000970 |
Arrhythmia |
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ]
|
0011675 |
Atypical scarring of skin |
Atypical scarring
|
0000987 |
0000007 | ||
Carious teeth |
Dental cavities
Tooth cavities
Tooth decay
[ more ]
|
0000670 |
Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
Decreased nerve conduction velocity | 0000762 | |
Dementia, progressive
Progressive dementia
[ more ]
|
0000726 | |
Dental malocclusion |
Bad bite
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches
[ more ]
|
0000689 |
Dry hair | 0011359 | |
Dry skin | 0000958 | |
Difficulty articulating speech
|
0001260 | |
Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ]
|
0001288 |
Hypermetropia |
Farsightedness
Long-sightedness
[ more ]
|
0000540 |
Hypogonadism |
Decreased activity of gonads
|
0000135 |
Hypoplasia of teeth | 0000685 | |
Hypoplastic iliac wing | 0002866 | |
Hypoplastic pelvis | 0008839 | |
Increased cellular sensitivity to UV light | 0003224 | |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
Irregular menstruation |
Menstrual irregularity
|
0000858 |
Ivory epiphyses of the phalanges of the hand |
Increased bone density of end part of the hand bones
|
0010234 |
Kyphosis |
Hunched back
Round back
[ more ]
|
0002808 |
Limitation of joint mobility |
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion
[ more ]
|
0001376 |
Loss of facial adipose |
Decreased amount of facial fat
Loss of facial fat
[ more ]
|
0000292 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
Micropenis |
Short penis
Small penis
[ more ]
|
0000054 |
Muscle weakness |
Muscular weakness
|
0001324 |
Normal pressure |
0002343 | |
Opacification of the corneal stroma | 0007759 | |
Patchy demyelination of subcortical white matter | 0002545 | |
Peripheral dysmyelination | 0003469 | |
Polyneuropathy |
Peripheral nerve disease
|
0001271 |
Reduced subcutaneous adipose tissue |
Reduced fat tissue below the skin
|
0003758 |
Retinal pigment epithelial mottling | 0007814 | |
Sensorineural hearing impairment | 0000407 | |
Severe postnatal growth retardation |
Marked growth retardation
Severe growth delay in children
Severe postnatal growth failure
[ more ]
|
0008850 |
Slender nose | 0000417 | |
Sparse hair | 0008070 | |
Splenomegaly |
Increased spleen size
|
0001744 |
Square pelvis bone | 0003278 | |
Thickened calvaria |
Increased thickness of skull cap
Thickened skull cap
[ more ]
|
0002684 |
Thymic |
0003357 |
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.
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.