Question: What are the symptoms of 15q13.3 microdeletion syndrome ?
Answer: What are the signs and symptoms of 15q13.3 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 15q13.3 microdeletion syndrome. 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) Abnormal facial shape 50% Cognitive impairment 50% Incomplete penetrance 50% Abnormal nasal morphology 7.5% Abnormality of the pinna 7.5% Attention deficit hyperactivity disorder 7.5% Autism 7.5% Clinodactyly of the 5th finger 7.5% Epicanthus 7.5% Frontal bossing 7.5% Low-set, posteriorly rotated ears 7.5% Macrocephaly 7.5% Melanocytic nevus 7.5% Microcephaly 7.5% Muscular hypotonia 7.5% Seizures 7.5% Short stature 7.5% Strabismus 7.5% Behavioral abnormality 10/19 Muscular hypotonia 9/18 Abnormality of the palpebral fissures 7/19 Intellectual disability, moderate 6/17 Abnormality of the pinna 6/19 Intellectual disability, mild 5/17 Specific learning disability 7/25 Clinodactyly of the 5th finger 4/19 Intellectual disability, severe 3/18 Abnormality of cardiovascular system morphology 3/19 Brachydactyly syndrome 3/19 Hypertelorism 3/19 Strabismus 3/19 Synophrys 3/19 Seizures 2/18 Autosomal dominant inheritance - Phenotypic variability - 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.
Source: GARD