- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101030)
- Occipital encephalocele (HP:0002085): A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101030)
- Polymicrogyria (HP:0002126): Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101030)
- Abnormality of neuronal migration (HP:0002269): An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101030)
- Gray matter heterotopia (HP:0002282): Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101030)
- 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: Frequent (HP:0040282). (ORPHA:101030)
- Abnormal bone structure (HP:0003330): Any anomaly in the composite material or the layered arrangement of the bony skeleton. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101030)
- 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: Frequent (HP:0040282). (ORPHA:101030)
- Nasofrontal encephalocele (HP:0011818). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101030)
- Focal cortical dysplasia (HP:0032046): A type of malformation of cortical development that primarily affects areas of neocortex. It can be identified on conventional magnetic resonance imaging as focal cortical thickening, abnormal gyration, and blurring between gray and white matter, often associated with clusters of heterotopic neurons. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101030)
- Limb myoclonus (HP:0045084). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101030)
- Abnormal ethmoid bone morphology (HP:0430005): An abnormality of the ethmoid bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101030)
- Abnormal forehead morphology (HP:0000290): An anomaly of the forehead. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101030)
- Partial agenesis of the corpus callosum (HP:0001338): A partial failure of the development of the corpus callosum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101030)
- Prominent glabella (HP:0002057): Forward protrusion of the glabella. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101030)
- Visual hallucination (HP:0002367): Visual perception in the absence of a visual stimulus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101030)
- Meningocele (HP:0002435): Protrusion of the meninges through a defect of the skull or vertebral column. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101030)
- Myelomeningocele (HP:0002475): Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101030)
- EEG with focal sharp slow waves (HP:0011195): EEG with focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101030)
- EEG with temporal focal spike waves (HP:0012013): EEG with focal sharp transient waves in the temporal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101030)
- Interictal EEG abnormality (HP:0025373): Interictal refers to a period of time between epileptic seizures. Electroencephalographic (EEG) patterns are important in the differential diagnosis of epilepsy, and the EEG is almost always abnormal during a seizure. Some persons with seizures may show EEG abnormalities between seizures, while others do not. In some cases, multiple interictal EEGs must be recorded before an abnormality is observed. In most cases the electrographic pattern of seizure onset is completely different from the activity recorded during interictal discharge. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101030)
- Acroparesthesia (HP:0031006): A type of paresthesia (tingling, pins-and-needles, burning or numbness or stiffness) that occurs in the hands and feet and particularly in the fingers and toes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101030)
- Abnormality of movement (HP:0100022): An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101030)
These phenotypes are associated with the disease Subependymal nodular heterotopia (ORPHA:101030).