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) |
| Autistic behavior | Very frequent (present in 80%-99% of cases) |
| Broad forehead | Very frequent (present in 80%-99% of cases) |
| Delayed speech and language development | Very frequent (present in 80%-99% of cases) |
| High forehead | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Muscular |
Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Hypoplasia of the |
Frequent (present in 30%-79% of cases) |
| Short nose | Frequent (present in 30%-79% of cases) |
| Short philtrum | Frequent (present in 30%-79% of cases) |
| Upslanted palpebral fissure | Frequent (present in 30%-79% of cases) |
| Ventriculomegaly | Frequent (present in 30%-79% of cases) |
| Abnormality of the periventricular white matter | Occasional (present in 5%-29% of cases) |
| Agenesis of cerebellar vermis | Occasional (present in 5%-29% of cases) |
| Anteverted nares | Occasional (present in 5%-29% of cases) |
| Deeply set eye | Occasional (present in 5%-29% of cases) |
| Epileptic |
Occasional (present in 5%-29% of cases) |
| Feeding difficulties | Occasional (present in 5%-29% of cases) |
| Frontal cortical atrophy | Occasional (present in 5%-29% of cases) |
| Open mouth | Occasional (present in 5%-29% of cases) |
| Optic nerve hypoplasia | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Thick eyebrow | Occasional (present in 5%-29% of cases) |
| Toe |
Occasional (present in 5%-29% of cases) |
| Downturned corners of mouth | - |
| Hypertelorism | - |
| Inability to walk | - |
| Low-set ears | - |
| Motor delay | - |
| Poor eye contact | - |
| Short chin | - |
| Sporadic | - |
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.
The following diseases are related to 5q14.3 microdeletion syndrome . If you have a question about any of these diseases, you can contact GARD.
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.
