Phenotypes associated with the disease Myoclonic epilepsy of infancy (ORPHA:86909):
- Mild intellectual disability (HP:0001256): Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:86909)
- EEG with irregular generalized spike and wave complexes (HP:0001326): EEG shows spikes (<80 ms) and waves, which are recorded over the entire scalp and do not have a specific frequency. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:86909)
- 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 frequent (HP:0040281). (ORPHA:86909)
- Generalized myoclonic seizure (HP:0002123): A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:86909)
- Attention deficit hyperactivity disorder (HP:0007018): Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:86909)
- Aggressive behavior (HP:0000718): Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:86909)
- Irritability (HP:0000737): An emotional state characterized by negative feelings of heightened frustration, annoyance, or feeling upset, often triggered by internal factors (e.g., fatigue, hunger, unfulfilled desires) or external factors (e.g., social or environmental challenges). Irritability may be unpredictable, and is accompanied by a lowered threshold for emotional reactivity and observable features (speech, facial expressions, or psychomotor activity). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:86909)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:86909)
- Mental deterioration (HP:0001268): Loss of previously present mental abilities, generally in adults. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:86909)
- Myoclonus (HP:0001336): Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:86909)
- Incoordination (HP:0002311): A deficit in coordination of muscle movements. Coordination is defined as the orchestrated movement of multiple body parts as required to accomplish intended actions, like walking. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:86909)
- Developmental regression (HP:0002376): Loss of developmental skills, as manifested by loss of developmental milestones. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:86909)
- Poor hand-eye coordination (HP:0007057). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:86909)
- Leber optic atrophy (HP:0001112): Degeneration of retinal ganglion cells and their axons. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:86909)
- Dysarthria (HP:0001260): Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:86909)
- Generalized non-motor (absence) seizure (HP:0002121): A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:86909)
- Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373): A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:86909)
- Language impairment (HP:0002463): Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure, or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:86909)
- Photosensitive tonic-clonic seizure (HP:0007207): Generalized-onset tonic-clonic seizures that are provoked by flashing or flickering light. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:86909)
- Delayed fine motor development (HP:0010862): A type of motor delay characterized by a delay in acquiring the ability to control the fingers and hands. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:86909)
- Hemiplegia (HP:0002301): Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:86909)