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 | ||
| Azoospermia |
Absent sperm in semen
|
0000027 |
| Decreased testicular size |
Small testes
Small testis
[ more ]
|
0008734 |
| Global |
0001263 | |
|
Decreased activity of gonads
|
0000135 | |
| Infertility | 0000789 | |
|
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ]
|
0001256 | |
| Language impairment | 0002463 | |
| 30%-79% of people have these symptoms | ||
| Abnormality of dental enamel |
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality
[ more ]
|
0000682 |
| Abnormality of epiphysis morphology |
Abnormal shape of end part of bone
|
0005930 |
| Asthma | 0002099 | |
| Attention deficit hyperactivity disorder |
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder
[ more ]
|
0007018 |
| 0000717 | ||
| Carious teeth |
Dental cavities
Tooth cavities
Tooth decay
[ more ]
|
0000670 |
| Chronic otitis media |
Chronic infections of the middle ear
|
0000389 |
| Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
| Constipation | 0002019 | |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Delayed eruption of teeth |
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ]
|
0000684 |
| Depressed nasal ridge |
Flat nose
Recessed nasal ridge
[ more ]
|
0000457 |
| Down-sloping shoulders |
Rounded shoulders
Rounded, sloping shoulders
Sloping shoulders
[ more ]
|
0200021 |
| Elbow dislocation |
Dislocations of the elbows
Elbow dislocations
[ more ]
|
0003042 |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
|
Enlarged male breast
|
0000771 | |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Hypoplasia of penis |
Underdeveloped penis
|
0008736 |
| Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
| Muscular |
Low or weak muscle tone
|
0001252 |
| Open bite |
Absence of overlap of upper and lower teeth
Open bite between upper and lower teeth
[ more ]
|
0010807 |
| Pes planus |
Flat feet
Flat foot
[ more ]
|
0001763 |
| Radioulnar synostosis |
Fused forearm bones
|
0002974 |
| Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ]
|
0002205 |
| Scrotal hypoplasia |
Smaller than typical growth of scrotum
|
0000046 |
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
| Tall stature |
Increased body height
|
0000098 |
| Taurodontia | 0000679 | |
| Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
| 5%-29% of people have these symptoms | ||
| Abnormal aggressive, impulsive or violent behavior | 0006919 | |
| Abnormal social behavior |
Abnormal social behaviour
|
0012433 |
| Abnormality of cardiovascular system morphology | 0030680 | |
| Anxiety |
Excessive, persistent worry and fear
|
0000739 |
| Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
| Brachycephaly |
Short and broad skull
|
0000248 |
|
Cleft roof of mouth
|
0000175 | |
| Coxa valga | 0002673 | |
| 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 |
| Facial asymmetry |
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ]
|
0000324 |
| Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ]
|
0002020 |
| Hip dislocation |
Dislocated hips
Dislocation of hip
[ more ]
|
0002827 |
| Inguinal hernia | 0000023 | |
| Irritability |
Irritable
|
0000737 |
| 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 |
| Obesity |
Having too much body fat
|
0001513 |
| Pulmonary embolism |
Blood clot in artery of lung
|
0002204 |
| Renal dysplasia | 0000110 | |
| Schizophrenia | 0100753 | |
| 0002650 | ||
| 0001250 | ||
| Short neck |
Decreased length of neck
|
0000470 |
| Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
| Tremor | 0001337 | |
| Type II |
Noninsulin-dependent diabetes
Type 2 diabetes
Type II diabetes
[ more ]
|
0005978 |
| Venous thrombosis |
Blood clot in vein
|
0004936 |
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
|
|---|
|
Differential diagnoses include other aneuploidies, such as Klinefelter syndrome (47,XXY), 48,XXYY syndrome and 49,XXXXY syndrome (see these terms).
Visit the
Orphanet disease page
for more information.
|
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