The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Neurological speech impairment||90%|
|Abnormality of the aortic valve||7.5%|
|Aplasia/Hypoplasia affecting the eye||7.5%|
|Atria septal defect||7.5%|
|Attention deficit hyperactivity disorder||7.5%|
|Congenital diaphragmatic hernia||7.5%|
|Optic nerve coloboma||7.5%|
|Vertebral segmentation defect||7.5%|
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your 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.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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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My daughter has recently been diagnosed with 16p11.2 microdeletion. I have been trying to find as much information as possible on this. When was 16p11.2 first reported? Are there any places inside the US that research this deletion? Are there any reports of how this might affect her long term? She is only 18 months old and is very behind (not sitting, crawling, walking, talking). See answer
During an ultrasound at week 15 of my pregnancy, the doctor found hemivertebra. We had CGH done, and 16p11.2 deletion syndrome was found. What is the probability that this syndrome will occur in the next pregnancy? Is it inherited? My husband and I do not have relatives with autistic problems. I have a cousin with mental deficiency but the cause is not known. See answer