Phenotypes associated with the disease chromosome 15q13.3 microdeletion syndrome (DECIPHER:74):
- Abnormality of the face (HP:0000271): An abnormality of the face. Evidence: IEA. (DECIPHER:74)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: IEA. (DECIPHER:74)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: IEA. (DECIPHER:74)