- Focal-onset seizure (HP:0007359): A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:101046)
- Auditory hallucination (HP:0008765): Perception of sounds without auditory stimulus. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:101046)
- EEG with focal epileptiform discharges (HP:0011185): EEG discharges recorded in particular areas of a localized (focal) abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:101046)
- Aphasia (HP:0002381): An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101046)
- Interictal epileptiform activity (HP:0011182): Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101046)
- Focal aware seizure (HP:0002349): A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101046)
- Visual hallucination (HP:0002367): Visual perception in the absence of a visual stimulus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101046)
- Focal autonomic seizure (HP:0011154): An autonomic seizure is a type of focal non-motor seizure characterized by alteration of autonomic nervous system function as the initial semiological feature. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101046)
- Abnormal autonomic nervous system physiology (HP:0012332): A functional abnormality of the autonomic nervous system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101046)
- Nocturnal seizures (HP:0031951): Seizures that occur while the affected individual is sleeping. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101046)
- Atypical behavior (HP:0000708): Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:101046)
- Depression (HP:0000716): Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:101046)
- Bilateral tonic-clonic seizure (HP:0002069): A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:101046)
- Migraine (HP:0002076): Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:101046)
- Generalized-onset seizure (HP:0002197): A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:101046)
- Bilateral tonic-clonic seizure with focal onset (HP:0007334): A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:101046)
- Impulsivity (HP:0100710): Acting on the spur of the moment or on a momentary basis without consideration of outcomes; having difficulty establishing or following plans; experiencing a sense of urgency and engaging in behavior that is uninhibited, cannot be inhibited, and is uncontrolled. The possibility of repression is inconceivable. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:101046)
These phenotypes are associated with the disease Epilepsy with auditory features (ORPHA:101046).
The following phenotypes are NOT associated with this disease:
- 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: TAS. (ORPHA:101046)
- Brain imaging abnormality (HP:0410263): An anomaly of metabolism or structure of the brain identified by imaging. Evidence: TAS. (ORPHA:101046)