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) |
| Cognitive impairment | 90% |
| Muscular hypotonia | 90% |
| Neurological speech impairment | 90% |
| Seizures | 90% |
| Thin vermilion border | 90% |
| Abnormality of the cardiac septa | 50% |
| Abnormality of the philtrum | 50% |
| Aplasia/Hypoplasia of the corpus callosum | 50% |
| Hypertelorism | 50% |
| Microcephaly | 50% |
| Short stature | 50% |
| Strabismus | 50% |
| Telecanthus | 50% |
| Upslanted palpebral fissure | 50% |
| Ventriculomegaly | 50% |
| Abnormality of the palate | 7.5% |
| Displacement of the external urethral meatus | 7.5% |
| Frontal bossing | 7.5% |
| High forehead | 7.5% |
| Hydrocephalus | 7.5% |
| Intestinal malrotation | 7.5% |
| Narrow forehead | 7.5% |
| Optic atrophy | 7.5% |
| Preauricular skin tag | 7.5% |
| Prominent metopic ridge | 7.5% |
| Renal hypoplasia/aplasia | 7.5% |
| Scoliosis | 7.5% |
| Synophrys | 7.5% |
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.
