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) |
| Abnormal facial shape | Frequent (present in 30%-79% of cases) |
| Intellectual disability | Frequent (present in 30%-79% of cases) |
| Abnormality of cardiovascular system morphology | Occasional (present in 5%-29% of cases) |
| Attention deficit hyperactivity disorder | Occasional (present in 5%-29% of cases) |
| Autism | Occasional (present in 5%-29% of cases) |
| Bipolar affective disorder | Occasional (present in 5%-29% of cases) |
| Clinodactyly of the 5th finger | Occasional (present in 5%-29% of cases) |
| Downslanted palpebral fissures | Occasional (present in 5%-29% of cases) |
| Epicanthus | Occasional (present in 5%-29% of cases) |
| Frontal bossing | Occasional (present in 5%-29% of cases) |
| Macrocephaly | Occasional (present in 5%-29% of cases) |
| Macrotia | Occasional (present in 5%-29% of cases) |
| Melanocytic nevus | Occasional (present in 5%-29% of cases) |
| Microcephaly | Occasional (present in 5%-29% of cases) |
| Muscular hypotonia | Occasional (present in 5%-29% of cases) |
| Prominent nasal tip | Occasional (present in 5%-29% of cases) |
| Protruding ear | Occasional (present in 5%-29% of cases) |
| Schizophrenia | Occasional (present in 5%-29% of cases) |
| Seizures | Occasional (present in 5%-29% of cases) |
| Strabismus | Occasional (present in 5%-29% of cases) |
| Abnormality of the palpebral fissures | Very rare (present in 1%-4% of cases) |
| Abnormality of the pinna | Very rare (present in 1%-4% of cases) |
| Behavioral abnormality | Very rare (present in 1%-4% of cases) |
| Brachydactyly syndrome | Very rare (present in 1%-4% of cases) |
| Hypertelorism | Very rare (present in 1%-4% of cases) |
| Incomplete penetrance | Very rare (present in 1%-4% of cases) |
| Intellectual disability, mild | Very rare (present in 1%-4% of cases) |
| Intellectual disability, moderate | Very rare (present in 1%-4% of cases) |
| Intellectual disability, severe | Very rare (present in 1%-4% of cases) |
| Specific learning disability | Very rare (present in 1%-4% of cases) |
| Synophrys | Very rare (present in 1%-4% of cases) |
| Autosomal dominant inheritance | - |
| Phenotypic variability | - |
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 was diagnosed with 15q13.3 microdeletion syndrome. Her father was also diagnosed with this condition, but her siblings have not been tested. Her paternal uncle has dyslexia and her paternal grandmother has seizures. How rare is this condition? Would it be beneficial for my husband's family members or my daughter's siblings to be tested? See answer
