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) |
| Agenesis of corpus callosum | Very frequent (present in 80%-99% of cases) |
| Delayed speech and language development | Very frequent (present in 80%-99% of cases) |
| Exaggerated cupid's bow | Very frequent (present in 80%-99% of cases) |
| Generalized tonic-clonic seizures | Very frequent (present in 80%-99% of cases) |
| Intellectual disability, severe | Very frequent (present in 80%-99% of cases) |
| Muscular hypotonia | Very frequent (present in 80%-99% of cases) |
| Thin vermilion border | Very frequent (present in 80%-99% of cases) |
| Abnormality of the cardiac septa | Frequent (present in 30%-79% of cases) |
| Epicanthus | Frequent (present in 30%-79% of cases) |
| Hypertelorism | Frequent (present in 30%-79% of cases) |
| Microcephaly | Frequent (present in 30%-79% of cases) |
| Micrognathia | Frequent (present in 30%-79% of cases) |
| Smooth philtrum | Frequent (present in 30%-79% of cases) |
| Strabismus | Frequent (present in 30%-79% of cases) |
| Telecanthus | 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) |
| Biparietal narrowing | Occasional (present in 5%-29% of cases) |
| Frontal bossing | Occasional (present in 5%-29% of cases) |
| High forehead | Occasional (present in 5%-29% of cases) |
| High palate | Occasional (present in 5%-29% of cases) |
| Horseshoe kidney | Occasional (present in 5%-29% of cases) |
| Hydrocephalus | Occasional (present in 5%-29% of cases) |
| Intestinal malrotation | Occasional (present in 5%-29% of cases) |
| Optic disc hypoplasia | Occasional (present in 5%-29% of cases) |
| Preauricular skin tag | Occasional (present in 5%-29% of cases) |
| Prominent metopic ridge | Occasional (present in 5%-29% of cases) |
| Scoliosis | Occasional (present in 5%-29% of cases) |
| Synophrys | Occasional (present in 5%-29% of cases) |
| Vesicoureteral reflux | Occasional (present in 5%-29% of cases) |
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a 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.
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 1q44 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.
