What are the symptoms of 15q11.2 microdeletion ?
What are the signs and symptoms of 15q11.2 microdeletion? The signs and symptoms in people with a 15q11.2 microdeletion can vary widely. Some people with the microdeletion don't have any apparent features, while others are more severely affected. When not all people with a genetic abnormality are affected, the condition is said to have reduced penetrance. When signs and symptoms vary among affected people, the condition is said to have variable expressivity. The most commonly reported features in people with a 15q11.2 microdeletion include neurological dysfunction, developmental delay, language delay, motor delay, ADD/ADHD, and autism spectrum disorder. Other signs and symptoms that have been reported include seizures; abnormally shaped ears; abnormalities of the palate (roof of the mouth); memory problems; behavioral problems; and mental illness. While some babies with a 15q11.2 microdeletion are born with a minor or serious birth defect, many babies are born completely healthy. You may read additional information about this microdeletion in Unique's guide entitled '15q11.2 microdeletions.' This guide contains information from both the published medical literature and from a survey of members with a 15q11.2 microdeletion. The Human Phenotype Ontology provides the following list of signs and symptoms for 15q11.2 microdeletion. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of cardiovascular system morphology - Ataxia - Autistic behavior - Autosomal dominant inheritance - Broad forehead - Cleft palate - Clumsiness - Delayed speech and language development - Feeding difficulties - Happy demeanor - Hypertelorism - Incomplete penetrance - Intellectual disability - Muscular hypotonia - Obsessive-compulsive behavior - Plagiocephaly - Seizures - Slender finger - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.