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 | ||
Autistic behavior | 0000729 | |
Drooling |
Dribbling
|
0002307 |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
Joint hypermobility |
Double-Jointed
Flexible joints
Increased mobility of joints
[ more ]
|
0001382 |
30%-79% of people have these symptoms | ||
Echolalia |
Echoing another person's speech
|
0010529 |
Feeding difficulties |
Feeding problems
Poor feeding
[ more ]
|
0011968 |
Hyperactivity |
More active than typical
|
0000752 |
0001250 | ||
Self-biting | 0012169 | |
Severe expressive language delay | 0006863 | |
Severe receptive language delay | 0011352 | |
Stereotypy |
Repetitive movements
Repetitive or self-injurious behavior
[ more ]
|
0000733 |
5%-29% of people have these symptoms | ||
2-3 toe |
Webbed 2nd and 3rd toes
|
0004691 |
Abnormal facial shape |
Unusual facial appearance
|
0001999 |
Aggressive behavior |
Aggression
Aggressive behaviour
Aggressiveness
[ more ]
|
0000718 |
Brachycephaly |
Short and broad skull
|
0000248 |
Short fingers or toes
|
0001156 | |
Broad nasal tip |
Broad tip of nose
Broad, upturned nose
Increased breadth of nasal tip
Increased breadth of tip of nose
Increased width of nasal tip
Increased width of tip of nose
Nasal tip, broad
Nasal tip, wide
Wide tip of nose
[ more ]
|
0000455 |
Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
Deeply set eye |
Deep set eye
Deep-set eyes
Sunken eye
[ more ]
|
0000490 |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
Growth delay |
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ]
|
0001510 |
High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
Decreased activity of gonads
|
0000135 | |
Low-set, posteriorly rotated ears | 0000368 | |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
Short philtrum | 0000322 | |
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
Synophrys |
Monobrow
Unibrow
[ more ]
|
0000664 |
1%-4% of people have these symptoms | ||
Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
Gonadal dysgenesis | 0000133 | |
Hernia | 0100790 | |
Precocious puberty |
Early onset of puberty
Early puberty
[ more ]
|
0000826 |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
Tetralogy of Fallot | 0001636 | |
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 |
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
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The possible occurrence of double supernumerary isodicentric chromosomes derived from chromosome 15, resulting in partial hexasomy of the maternally inherited PWS/ASCR, should be considered in the differential diagnosis.
Visit the
Orphanet disease page
for more information.
|
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