Phenotypes associated with the disease Unilateral focal polymicrogyria (ORPHA:268947):
- 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. Frequency: Very frequent (HP:0040281). (ORPHA:268947)
- 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: Very frequent (HP:0040281). (ORPHA:268947)
- 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: Very frequent (HP:0040281). (ORPHA:268947)
- Hemiparesis (HP:0001269): Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:268947)
- Cortical dysplasia (HP:0002539): The presence of developmental dysplasia of the cerebral cortex. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:268947)
- Spastic hemiparesis (HP:0011099): Unilateral paresis (weakness) with spasticity of the affected muscles and increased tendon reflexes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:268947)
- Focal motor seizure (HP:0011153): A type of focal-onset seizure characterized by a motor sign as its initial semiological manifestation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:268947)
- Cerebral cortical hemiatrophy (HP:0100308): Atrophy of one side of the brain, characterized by findings including thinning of the cerebral cortex, reduced volume of the cerebral white matter with abnormal myelination, and enlargement of the ispilateral fourth ventricle. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:268947)
- 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: Frequent (HP:0040282). (ORPHA:268947)
- Mental deterioration (HP:0001268): Loss of previously present mental abilities, generally in adults. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:268947)
- Moderate intellectual disability (HP:0002342): Moderate intellectual disability (ID) is defined as a type of ID characterized by moderately sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 35-49. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:268947)
- 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: Frequent (HP:0040282). (ORPHA:268947)
- 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: Frequent (HP:0040282). (ORPHA:268947)
- Abnormality of somatosensory evoked potentials (HP:0007377): An abnormality of somatosensory evoked potentials (SSEP), i.e., of the electrical signals of sensation going from the body to the brain in response to a defined stimulus. Recording electrodes are placed over the scalp, spine, and peripheral nerves proximal to the stimulation site. Clinical studies generally use electrical stimulation of peripheral nerves to elicit potentials. SSEP testing determines whether peripheral sensory nerves are able to transmit sensory information like pain, temperature, and touch to the brain. Abnormal SSEPs can result from dysfunction at the level of the peripheral nerve, plexus, spinal root, spinal cord, brain stem, thalamocortical projections, or primary somatosensory cortex. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:268947)
- EEG with frontal focal spikes (HP:0012015): EEG with focal sharp transient waves of a duration less than 80 msec in the frontal region. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:268947)
- EEG with temporal focal spikes (HP:0012018): EEG with focal sharp transient waves of a duration less than 80 msec in the temporal region. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:268947)
- Urinary incontinence (HP:0000020): Loss of the ability to control the urinary bladder leading to involuntary urination. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:268947)
- 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: Occasional (HP:0040283). (ORPHA:268947)
- Abnormal nonverbal communicative behavior (HP:0000758): Abnormalities in eye contact, communicative facial expressions, gesture use, or the use of others' bodies to communicate convey shared meanings within a culture that replace or supplement verbal communication. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:268947)
- Bimanual synkinesia (HP:0001335): Involuntary movements of one hand that accompany and mirror intentional movements of the opposite hand. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:268947)
- Memory impairment (HP:0002354): An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:268947)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:268947)
- 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:268947)
- Poor fine motor coordination (HP:0007010): An abnormality of the ability (skills) to perform a precise movement of small muscles with the intent to perform a specific act. Fine motor skills are required to mediate movements of the wrists, hands, fingers, feet, and toes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:268947)
- Intracerebral periventricular calcifications (HP:0007229): The presence of calcium deposition in the cerebral white matter surrounding the cerebral ventricles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:268947)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:268947)
- EEG with central focal spikes (HP:0012014): EEG with focal sharp transient waves of a duration less than 80 msec in the central region. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:268947)
- EEG with occipital focal spikes (HP:0012016): EEG with focal sharp transient waves of a duration less than 80 msec in the occipital region. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:268947)
- EEG with parietal focal spikes (HP:0012017): EEG with focal sharp transient waves of a duration less than 80 msec in the parietal region. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:268947)