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 | ||
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
Neurodevelopmental delay | 0012758 | |
Patchy demyelination of subcortical white matter | 0002545 | |
Subcortical white matter calcifications | 0007346 | |
30%-79% of people have these symptoms | ||
0001251 | ||
Difficulty walking |
Difficulty in walking
|
0002355 |
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 |
Postural instability |
Balance impairment
|
0002172 |
Progeroid facial appearance |
Premature aged appearance
|
0005328 |
5%-29% of people have these symptoms | ||
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 |
Developmental |
Clouding of the lens of the eye at birth
|
0000519 |
Feeding difficulties in infancy | 0008872 | |
Flexion |
Flexed joint that cannot be straightened
|
0001371 |
Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
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 |
Kyphosis |
Hunched back
Round back
[ more ]
|
0002808 |
Limb hypertonia |
Increased muscle tone of arm or leg
|
0002509 |
Lower limb |
0002061 | |
Macrotia |
Large ears
|
0000400 |
Muscular |
Low muscle tone in trunk
|
0008936 |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Photophobia |
Extreme sensitivity of the eyes to light
Light hypersensitivity
[ more ]
|
0000613 |
Scarring | 0100699 | |
0002650 | ||
Short chin |
Decreased height of chin
Short lower third of face
[ more ]
|
0000331 |
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
Uveitis | 0000554 | |
Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ]
|
0000505 |
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 | |
Abnormal hair morphology |
Abnormality of the hair
Hair abnormality
[ more ]
|
0001595 |
Abnormal peripheral myelination | 0003130 | |
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 | ||
Basal ganglia calcification | 0002135 | |
Carious teeth |
Dental cavities
Tooth cavities
Tooth decay
[ more ]
|
0000670 |
Cataract |
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 |
Cerebellar calcifications | 0007352 | |
Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
Cutaneous photosensitivity |
Photosensitive skin
Photosensitive skin rashes
Photosensitivity
Sensitivity to sunlight
Skin photosensitivity
Sun sensitivity
[ more ]
|
0000992 |
Decreased lacrimation |
Decreased tear secretion
|
0000633 |
Decreased nerve conduction velocity | 0000762 | |
Dental malocclusion |
Bad bite
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches
[ more ]
|
0000689 |
Dermal atrophy |
Skin degeneration
|
0004334 |
Dry hair | 0011359 | |
Dry skin | 0000958 | |
Hypermetropia |
Farsightedness
Long-sightedness
[ more ]
|
0000540 |
0000822 | ||
Hypoplasia of teeth | 0000685 | |
Hypoplasia of the iris |
Underdeveloped iris
|
0007676 |
Hypoplastic iliac wing | 0002866 | |
Hypoplastic pelvis | 0008839 | |
Increased cellular sensitivity to UV light | 0003224 | |
Ivory epiphyses of the phalanges of the hand |
Increased bone density of end part of the hand bones
|
0010234 |
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 | |
Microcornea |
Cornea of eye less than 10mm in diameter
|
0000482 |
Micropenis |
Short penis
Small penis
[ more ]
|
0000054 |
Microphthalmia |
Abnormally small eyeball
|
0000568 |
Muscle weakness |
Muscular weakness
|
0001324 |
Normal pressure |
0002343 | |
Opacification of the corneal stroma | 0007759 | |
Optic atrophy | 0000648 | |
0000939 | ||
Peripheral dysmyelination | 0003469 | |
Pigmentary retinopathy | 0000580 | |
Polyneuropathy |
Peripheral nerve disease
|
0001271 |
Postnatal growth retardation |
Growth delay as children
|
0008897 |
High urine protein levels
Protein in urine
[ more ]
|
0000093 | |
Reduced subcutaneous adipose tissue |
Reduced fat tissue below the skin
|
0003758 |
Renal insufficiency |
Renal failure
Renal failure in adulthood
[ more ]
|
0000083 |
0001250 | ||
Sensorineural hearing impairment | 0000407 | |
Severe failure to thrive |
Severe faltering weight
Severe weight faltering
[ more ]
|
0001525 |
Severe |
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ]
|
0003510 |
Slender nose | 0000417 | |
Small for gestational age |
Birth weight less than 10th percentile
Low birth weight
[ more ]
|
0001518 |
Sparse hair | 0008070 | |
Splenomegaly |
Increased spleen size
|
0001744 |
Square pelvis bone | 0003278 | |
Thickened calvaria |
Increased thickness of skull cap
Thickened skull cap
[ more ]
|
0002684 |
Tremor | 0001337 |
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.
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