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 | ||
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 |
Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
Malar flattening |
Zygomatic flattening
|
0000272 |
Motor delay | 0001270 | |
Tall stature |
Increased body height
|
0000098 |
30%-79% of people have these symptoms | ||
Asthma | 0002099 | |
Attention deficit hyperactivity disorder |
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder
[ more ]
|
0007018 |
Night blindness since birth
|
0007642 | |
Finger clinodactyly | 0040019 | |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
Impaired social interactions |
Impaired social interaction
Poor social interactions
[ more ]
|
0000735 |
Impulsivity |
Impulsive
|
0100710 |
Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ]
|
0000256 |
Neonatal hypotonia |
Low muscle tone, in neonatal onset
|
0001319 |
Specific learning disability | 0001328 | |
5%-29% of people have these symptoms | ||
Abnormality of brainstem morphology |
Abnormal shape of brainstem
|
0002363 |
Azoospermia |
Absent sperm in semen
|
0000027 |
Cerebellar dysplasia | 0007033 | |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
Dysgenesis of the cerebellar vermis | 0002195 | |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Hypospadias | 0000047 | |
Increased circulating gonadotropin level |
Elevated gonadotropins
Elevated serum gonadotropins
Gonadotropin excess
[ more ]
|
0000837 |
Increased serum testosterone level | 0030088 | |
Macroorchidism |
Large testis
|
0000053 |
Male infertility | 0003251 | |
Micropenis |
Short penis
Small penis
[ more ]
|
0000054 |
Oligospermia |
Low sperm count
|
0000798 |
0001250 | ||
Varicocele | 0012871 |
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.
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
47,XYY syndrome was present in my first delivery. Is it likely to be repeated? What is the main cause of this syndrome? See answer
I have a 4 year old son who was diagnosed with XYY karotype about a year ago. Lately, he has had a lot of behavior issues; he is very strong and he does throw several temper tantrums a day. I am looking for any advice how I can redirect him and get through to him on a positive note. See answer