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 | ||
Arthrogryposis multiplex congenita | 0002804 | |
Clitoral hypertrophy |
Enlarged clitoris
|
0008665 |
Coarse facial features |
Coarse facial appearance
|
0000280 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
Global |
0001263 | |
Hip |
0003273 | |
Hydronephrosis | 0000126 | |
Hypoplastic ilia | 0000946 | |
Hypoplastic ischia | 0003175 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
Knee flexion contracture | 0006380 | |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
Multicystic kidney dysplasia | 0000003 | |
Patellar aplasia |
Absent kneecap
|
0006443 |
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 |
Prominent nose |
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose
[ more ]
|
0000448 |
Scrotal hypoplasia |
Smaller than typical growth of scrotum
|
0000046 |
Short palm | 0004279 | |
Wide nose |
Broad nose
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose
[ more ]
|
0000445 |
30%-79% of people have these symptoms | ||
Agenesis of |
0001274 | |
Delayed eruption of teeth |
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ]
|
0000684 |
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 |
Fine hair |
Fine hair shaft
Fine hair texture
Thin hair shaft
Thin hair texture
[ more ]
|
0002213 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
Long philtrum | 0000343 | |
Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
0001250 | ||
Sparse scalp hair |
Reduced/lack of hair on scalp
Scalp hair, thinning
Sparse, thin scalp hair
sparse-absent scalp hair
[ more ]
|
0002209 |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
5%-29% of people have these symptoms | ||
Apnea | 0002104 | |
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 |
Feeding difficulties |
Feeding problems
Poor feeding
[ more ]
|
0011968 |
Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ]
|
0002020 |
Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
Pulmonary hypoplasia |
Small lung
Underdeveloped lung
[ more ]
|
0002089 |
Radioulnar synostosis |
Fused forearm bones
|
0002974 |
Decreased body height
Small stature
[ more ]
|
0004322 | |
Percent of people who have these symptoms is not available through HPO | ||
0000006 | ||
0000007 | ||
Short fingers or toes
|
0001156 | |
Colpocephaly | 0030048 | |
Dislocated hip since birth
|
0001374 | |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ]
|
0002015 | |
Enlarged labia minora | 0008683 | |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
Hypoplastic inferior pubic rami | 0008823 | |
Intellectual disability, progressive |
Mental retardation, progressive
Progressive mental retardation
[ more ]
|
0006887 |
Laryngomalacia |
Softening of voice box tissue
|
0001601 |
Micropenis |
Short penis
Small penis
[ more ]
|
0000054 |
Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
Patellar dislocation |
Dislocated kneecap
|
0002999 |
Periventricular heterotopia | 0007165 | |
Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
Psychomotor retardation | 0025356 | |
Short phalanx of finger |
Short finger bones
|
0009803 |
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
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.
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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