- Focal impaired awareness seizure (HP:0002384): Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure. Evidence: PCS. Frequency: 4/8. (PMID:38508705)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: PCS. Frequency: 3/8. (PMID:38508705)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 2/8. (PMID:38508705)
- Status epilepticus without prominent motor symptoms (HP:0031475): There is inconclusive evidence to precisely define the duration of the seizure; however, based on current evidence an operational threshold of 10 minutes is appropriate as beyond this a seizure is likely to be more prolonged. The individual may or may not be aware or in coma. Evidence: PCS. Frequency: 1/8. (PMID:38508705)
- EEG with temporal sharp slow waves (HP:0011289): EEG with sharp slow waves in the temporal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. Evidence: PCS. Frequency: 3/3. (PMID:38508705)
- Infantile spasms (HP:0012469): Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy). Evidence: PCS. Frequency: 2/8. (PMID:38508705)
- 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: PCS. Frequency: 1/1. (PMID:38508705)
- Simple febrile seizure (HP:0011171): A short generalized seizure, of a duration of <15 min, not recurring within 24 h, occurring during a febrile episode not caused by an acute disease of the nervous system intracranial infection or severe metabolic disturbance. Evidence: PCS. Frequency: 1/8. (PMID:38508705)
- EEG with occipital sharp slow waves (HP:0011287): EEG with sharp slow waves in the occipital region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. Evidence: PCS. Frequency: 2/2. (PMID:38508705)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 6/8. (PMID:38508705)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:38508705)
- 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: PCS. Frequency: 5/8. (PMID:38508705)
- EEG with central sharp slow waves (HP:0011291): EEG with sharp slow waves in the central region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. Evidence: PCS. Frequency: 1/1. (PMID:38508705)
- EEG with frontal sharp slow waves (HP:0011290): EEG with sharp slow waves in the frontal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. Evidence: PCS. Frequency: 3/3. (PMID:38508705)
These phenotypes are associated with the disease epilepsy, idiopathic generalized 20 (OMIM:621500).