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 | ||
| Abnormal facial shape |
Unusual facial appearance
|
0001999 |
| Acromesomelia | 0003086 | |
| 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 |
| Feeding difficulties |
Feeding problems
Poor feeding
[ more ]
|
0011968 |
| Gait disturbance |
Abnormal gait
Impaired gait
Abnormal walk
[ more ]
|
0001288 |
| Global |
0001263 | |
| 30%-79% of people have these symptoms | ||
| Anxiety |
Excessive, persistent worry and fear
|
0000739 |
| Autistic behavior | 0000729 | |
| 0011451 | ||
| Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
| Febrile |
Fever induced seizures
|
0002373 |
| Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
| Poor speech | 0002465 | |
| Small for gestational age |
Birth weight less than 10th percentile
Low birth weight
[ more ]
|
0001518 |
| Stereotypy |
Repetitive movements
Repetitive or self-injurious behavior
[ more ]
|
0000733 |
| 5%-29% of people have these symptoms | ||
| Amblyopia |
Lazy eye
Wandering eye
[ more ]
|
0000646 |
| Anterior pituitary hypoplasia |
Underdeveloped pituitary gland
|
0010627 |
| Aortic regurgitation | 0001659 | |
| Arachnodactyly |
Long slender fingers
Spider fingers
[ more ]
|
0001166 |
| Astigmatism |
Abnormal curving of the cornea or lens of the eye
|
0000483 |
| Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 |
| Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
| Corneal opacity | 0007957 | |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Deeply set eye |
Deep set eye
Deep-set eyes
Sunken eye
[ more ]
|
0000490 |
| Exotropia |
Outward facing eye ball
|
0000577 |
| Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ]
|
0002020 |
| Hyperactivity |
More active than typical
|
0000752 |
| Hypermetropia |
Farsightedness
Long-sightedness
[ more ]
|
0000540 |
| Hypoplasia of the brainstem |
Small brainstem
Underdeveloped brainstem
[ more ]
|
0002365 |
| Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
|
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ]
|
0010864 | |
| Macrotia |
Large ears
|
0000400 |
| Multiple joint |
0002828 | |
| Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ]
|
0000545 |
| Narrow forehead |
Decreased width of the forehead
|
0000341 |
| Narrow nasal tip |
Narrow tip of nose
Nasal tip, narrow
Nasal tip, pinched
Pinched nasal tip
Pinched tip of nose
Thin nasal tip
Thin tip of nose
[ more ]
|
0011832 |
| Optic disc pallor | 0000543 | |
|
More than five fingers or toes on hands or feet
|
0010442 | |
| 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 |
| Protruding ear |
Prominent ear
Prominent ears
[ more ]
|
0000411 |
| Recurrent infections |
Frequent infections
Frequent, severe infections
Increased frequency of infection
infections, recurrent
Predisposition to infections
Susceptibility to infection
[ more ]
|
0002719 |
| Toe |
Fused toes
Webbed toes
[ more ]
|
0001770 |
| Vomiting |
Throwing up
|
0002013 |
| 1%-4% of people have these symptoms | ||
| Abnormality of the cervical spine |
Abnormal cervical spine
|
0003319 |
| Aortic valve stenosis |
Narrowing of aortic valve
|
0001650 |
| 0001251 | ||
| 0000717 | ||
| Birth length less than 3rd percentile | 0003561 | |
| Breast hypoplasia |
Underdeveloped breasts
|
0003187 |
| Bulbous nose | 0000414 | |
| Duodenal atresia |
Absence or narrowing of first part of small bowel
|
0002247 |
| Eczema | 0000964 | |
| Enlarged cisterna magna | 0002280 | |
| Feeding difficulties in infancy | 0008872 | |
| Generalized |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| Hallux valgus |
Bunion
|
0001822 |
| Happy demeanor | 0040082 | |
| Hydronephrosis | 0000126 | |
| Hypospadias | 0000047 | |
| Hypotelorism |
Abnormally close eyes
Closely spaced eyes
[ more ]
|
0000601 |
| Inappropriate laughter | 0000748 | |
| Incoordination |
Difficulties in coordination
Incoordination of limb movements
Limb incoordination
[ more ]
|
0002311 |
| Kyphosis |
Hunched back
Round back
[ more ]
|
0002808 |
| Microcephaly |
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 | |
| Micropenis |
Short penis
Small penis
[ more ]
|
0000054 |
| Oligohydramnios |
Low levels of amniotic fluid
|
0001562 |
| Patent ductus arteriosus | 0001643 | |
| Pectus excavatum |
Funnel chest
|
0000767 |
| 0000125 | ||
| Pyloric stenosis | 0002021 | |
| Renal cyst |
Kidney cyst
|
0000107 |
| 0002650 | ||
| Seizure | 0001250 | |
| Severe global developmental delay | 0011344 | |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Smooth philtrum | 0000319 | |
| Stereotypical hand wringing | 0012171 | |
| Structural foot deformity | 0010219 | |
| Thick lower lip vermilion |
Increased volume of lower lip
Plump lower lip
Prominent lower lip
[ more ]
|
0000179 |
| Thickened helices | 0000391 | |
| Thin upper lip vermilion |
Thin upper lip
|
0000219 |
| Unilateral renal agenesis |
Absent kidney on one side
Missing one kidney
Single kidney
[ more ]
|
0000122 |
| Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of the pinna |
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears
[ more ]
|
0000377 |
| 0000006 | ||
| Failure to thrive in infancy |
Faltering weight in infancy
Weight faltering in infancy
[ more ]
|
0001531 |
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.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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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