Phenotypes associated with the disease cortical dysplasia-focal epilepsy syndrome (OMIM:610042):
- 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: PCS. Frequency: 12/12. (PMID:37183190;PMID:27066544;PMID:25045150)
- Epicanthus (HP:0000286): A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. Evidence: PCS. Frequency: 1/43. (PMID:23074684;PMID:19896112;PMID:35911904;PMID:21827697;PMID:37183190;PMID:19302947;PMID:16571880;PMID:33042910;PMID:25045150)
- Poor speech (HP:0002465). Evidence: IEA. (OMIM:610042)
- Tented upper lip vermilion (HP:0010804): Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base. Evidence: PCS. Frequency: 2/43. (PMID:23074684;PMID:19896112;PMID:35911904;PMID:21827697;PMID:37183190;PMID:19302947;PMID:16571880;PMID:33042910;PMID:25045150)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: PCS. Frequency: 0/12. (PMID:35911904;PMID:21827697;PMID:19302947)
- 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: IEA. (OMIM:610042)
- Strabismus (HP:0000486): A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. Evidence: PCS. Frequency: 3/3. (PMID:34778490;PMID:25045150)
- Dystonia (HP:0001332): An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk. Evidence: PCS. Frequency: 0/8. (PMID:23074684;PMID:37183190)
- 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: 18/18. (PMID:26843181;PMID:27439707;PMID:37183190;PMID:16571880)
- 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: PCS. Frequency: 16/18. (PMID:35911904;PMID:21827697;PMID:27439707;PMID:17646849;PMID:37183190;PMID:19302947;PMID:25045150)
- Protruding tongue (HP:0010808): Tongue extending beyond the alveolar ridges or teeth at rest. Evidence: PCS. Frequency: 1/43. (PMID:23074684;PMID:19896112;PMID:35911904;PMID:21827697;PMID:37183190;PMID:19302947;PMID:16571880;PMID:33042910;PMID:25045150)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: PCS. Frequency: 16/27. (PMID:34778490;PMID:23074684;PMID:30762603;PMID:27439707;PMID:37183190;PMID:33042910)
- Short nose (HP:0003196): Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. Evidence: PCS. Frequency: 1/8. (PMID:19896112;PMID:19302947;PMID:16571880;PMID:33042910;PMID:25045150)
- Ataxia (HP:0001251): Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). Evidence: PCS. Frequency: 6/12. (PMID:23074684;PMID:37183190)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 16/35. (PMID:34778490;PMID:34737720;PMID:23074684;PMID:19896112;PMID:21827697;PMID:27439707;PMID:37183190;PMID:33042910;PMID:25045150;PMID:34641913)
- Generalized hypotonia (HP:0001290): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: IEA. (OMIM:610042)
- Coarse facial features (HP:0000280): Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues. Evidence: PCS. Frequency: 1/50. (PMID:23074684;PMID:19896112;PMID:35911904;PMID:21827697;PMID:27439707;PMID:37183190;PMID:19302947;PMID:16571880;PMID:25045150)
- Focal impaired awareness emotional seizure with fear/anxiety/panic (HP:0032752): Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is partially or fully impaired at some point during the seizure. Evidence: PCS. Frequency: 3/34. (PMID:34778490;PMID:22031302;PMID:23074684;PMID:35911904;PMID:33895390;PMID:37183190;PMID:27439707;PMID:33042910)
- Sparse eyebrow (HP:0045075): Decreased density/number of eyebrow hairs. Evidence: PCS. Frequency: 1/8. (PMID:19896112;PMID:19302947;PMID:16571880;PMID:33042910;PMID:25045150)
- Thin corpus callosum (HP:0033725): An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration). Evidence: PCS. Frequency: 4/38. (PMID:34778490;PMID:26843181;PMID:19896112;PMID:35911904;PMID:30762603;PMID:33895390;PMID:27439707;PMID:37183190)
- 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: 1/9. (PMID:34737720;PMID:34778490;PMID:22031302;PMID:26843181;PMID:27439707)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 31/38. (PMID:26843181;PMID:23074684;PMID:19896112;PMID:33895390;PMID:30762603;PMID:27439707;PMID:37183190)
- Smooth philtrum (HP:0000319): Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border. Evidence: PCS. Frequency: 1/8. (PMID:19896112;PMID:19302947;PMID:16571880;PMID:33042910;PMID:25045150)
- 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: PCS. Frequency: 14/33. (PMID:23074684;PMID:26843181;PMID:35911904;PMID:33895390;PMID:21827697;PMID:27439707;PMID:37183190;PMID:16571880;PMID:33042910)
- Prominent forehead (HP:0011220): Forward prominence of the entire forehead, due to protrusion of the frontal bone. Evidence: PCS. Frequency: 1/43. (PMID:23074684;PMID:19896112;PMID:35911904;PMID:21827697;PMID:37183190;PMID:19302947;PMID:16571880;PMID:33042910;PMID:25045150)
- Thick vermilion border (HP:0012471): Increased width of the skin of vermilion border region of upper lip. Evidence: PCS. Frequency: 2/3. (PMID:19896112)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 1/1. (PMID:17646849)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: PCS. Frequency: 1/8. (PMID:34778490;PMID:19896112;PMID:16571880;PMID:25045150)
- Hyperactivity (HP:0000752): Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate. Evidence: PCS. (PMID:16571880)
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: PCS. Frequency: 5/12. (PMID:26843181;PMID:19896112;PMID:30762603;PMID:33895390;PMID:27439707;PMID:27066544;PMID:34641913)
- 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: PCS. Frequency: 1/1. Onset: Childhood onset (HP:0011463). (PMID:27439707)
- 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: PCS. Frequency: 7/7. (PMID:21827697)
- 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: PCS. Frequency: 1/1. (PMID:22031302)
- 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: PCS. Frequency: 0/2. (PMID:27066544)
- 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: PCS. Frequency: 0/1. (PMID:17646849)
- 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: PCS. Frequency: 2/2. (PMID:25045150)
- 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: PCS. Frequency: 4/4. (PMID:35911904)
- 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: PCS. Frequency: 3/3. (PMID:19896112)
- 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: PCS. Frequency: 1/1. (PMID:33895390)
- 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: PCS. Frequency: 2/2. (PMID:26843181)
- 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: PCS. Frequency: 18/18. (PMID:37183190)
- 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: PCS. Frequency: 1/1. (PMID:34778490)
- 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: PCS. Frequency: 1/1. (PMID:19302947)
- 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: PCS. Frequency: 1/1. (PMID:30762603)
- 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: PCS. Frequency: 8/8. (PMID:27439707)
- 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: PCS. Frequency: 1/1. (PMID:33042910)
- Large earlobe (HP:0009748): Increased volume of the earlobe, that is, abnormally prominent ear lobules. Evidence: PCS. Frequency: 1/42. (PMID:23074684;PMID:19896112;PMID:35911904;PMID:21827697;PMID:37183190;PMID:19302947;PMID:16571880;PMID:25045150)
- Hyporeflexia (HP:0001265): Reduction of neurologic reflexes such as the knee-jerk reaction. Evidence: PCS. Frequency: 8/16. (PMID:34778490;PMID:27439707;PMID:37183190;PMID:33042910;PMID:25045150)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: PCS. Frequency: 5/9. (PMID:22031302;PMID:19896112;PMID:21827697;PMID:30762603;PMID:19302947)
- Absent speech (HP:0001344): Complete lack of development of speech and language abilities. Evidence: IEA. (OMIM:610042)
- EEG abnormality (HP:0002353): Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp. Evidence: PCS. Frequency: 30/37. (PMID:34778490;PMID:26843181;PMID:33895390;PMID:30762603;PMID:27439707;PMID:37183190;PMID:19302947;PMID:16571880;PMID:33042910)
- 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: IEA. (OMIM:610042)
- 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: 57/64. (PMID:34737720;PMID:34778490;PMID:19896112;PMID:30762603;PMID:21827697;PMID:17646849;PMID:19302947;PMID:27066544;PMID:22031302;PMID:23074684;PMID:26843181;PMID:33895390;PMID:27439707;PMID:37183190;PMID:16571880;PMID:33042910;PMID:25045150;PMID:34641913)
- Microdontia (HP:0000691): Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth. Evidence: PCS. Frequency: 1/42. (PMID:23074684;PMID:19896112;PMID:35911904;PMID:21827697;PMID:37183190;PMID:19302947;PMID:16571880;PMID:25045150)
- Low anterior hairline (HP:0000294): Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella. Evidence: PCS. Frequency: 1/42. (PMID:23074684;PMID:19896112;PMID:35911904;PMID:21827697;PMID:37183190;PMID:19302947;PMID:16571880;PMID:25045150)
- 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: PCS. Frequency: 2/16. (PMID:34778490;PMID:26843181;PMID:19896112;PMID:33895390;PMID:30762603;PMID:27439707;PMID:37183190;PMID:16571880)
- Delayed gross motor development (HP:0002194): A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling. Evidence: PCS. Frequency: 12/13. (PMID:34778490;PMID:23074684;PMID:27439707;PMID:16571880;PMID:25045150)
- Intraventricular hemorrhage (HP:0030746): Bleeding into the ventricles of the brain. Evidence: PCS. Frequency: 9/38. (PMID:34778490;PMID:26843181;PMID:19896112;PMID:35911904;PMID:33895390;PMID:30762603;PMID:27439707;PMID:37183190)
- Thick corpus callosum (HP:0007074): Increased vertical dimension of the corpus callosum. This feature can be visualized by sagittal sections on magnetic resonance tomography imaging of the brain. Evidence: PCS. Frequency: 1/38. (PMID:34778490;PMID:26843181;PMID:19896112;PMID:35911904;PMID:33895390;PMID:30762603;PMID:27439707;PMID:37183190)
- Autistic behavior (HP:0000729): Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior. Evidence: PCS. Frequency: 19/30. (PMID:34778490;PMID:26843181;PMID:19896112;PMID:37183190;PMID:19302947;PMID:16571880;PMID:34641913)
- 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:16571880)
- Long eyelashes (HP:0000527): Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective). Evidence: PCS. Frequency: 1/43. (PMID:23074684;PMID:19896112;PMID:35911904;PMID:21827697;PMID:37183190;PMID:19302947;PMID:16571880;PMID:33042910;PMID:25045150)
- Macrotia (HP:0000400): Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective). Evidence: PCS. Frequency: 1/43. (PMID:23074684;PMID:19896112;PMID:35911904;PMID:21827697;PMID:37183190;PMID:19302947;PMID:16571880;PMID:33042910;PMID:25045150)
- 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: PCS. Frequency: 3/9. (PMID:16571880)
- 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: PCS. Frequency: 9/9. (PMID:34778490;PMID:35911904;PMID:30762603;PMID:37183190;PMID:16571880)
- Short philtrum (HP:0000322): Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border. Evidence: PCS. Frequency: 1/43. (PMID:23074684;PMID:19896112;PMID:35911904;PMID:21827697;PMID:37183190;PMID:19302947;PMID:16571880;PMID:33042910;PMID:25045150)
- Spasticity (HP:0001257): A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. Evidence: PCS. Frequency: 2/10. (PMID:37183190;PMID:27439707;PMID:33042910)
- Widely spaced teeth (HP:0000687): Increased spaces (diastemata) between most of the teeth in the same dental arch. Evidence: PCS. Frequency: 2/42. (PMID:23074684;PMID:19896112;PMID:35911904;PMID:21827697;PMID:37183190;PMID:19302947;PMID:16571880;PMID:25045150)
- Hyperventilation (HP:0002883): Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide. Evidence: PCS. Frequency: 8/45. (PMID:23074684;PMID:19896112;PMID:21827697;PMID:37183190;PMID:27439707;PMID:16571880;PMID:25045150)
- Narrow forehead (HP:0000341): Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective). Evidence: PCS. Frequency: 1/9. (PMID:19896112;PMID:33895390;PMID:19302947;PMID:16571880;PMID:33042910;PMID:25045150)
- Upslanted palpebral fissure (HP:0000582): The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age. Evidence: PCS. Frequency: 2/43. (PMID:23074684;PMID:19896112;PMID:35911904;PMID:21827697;PMID:37183190;PMID:19302947;PMID:16571880;PMID:33042910;PMID:25045150)
- Short columella (HP:0002000): Reduced distance from the anterior border of the naris to the subnasale. Evidence: PCS. Frequency: 1/43. (PMID:23074684;PMID:19896112;PMID:35911904;PMID:21827697;PMID:37183190;PMID:19302947;PMID:16571880;PMID:33042910;PMID:25045150)
- Receptive language delay (HP:0010863): A delay in the acquisition of the ability to understand the speech of others. Evidence: PCS. Frequency: 1/1. (PMID:23074684)
- Progressive language deterioration (HP:0007064): Progressive loss of previously present language abilities. Evidence: TAS. (OMIM:610042)
- Reduced eye contact (HP:0000817): A reduced frequency or duration of eye contact. Evidence: PCS. Frequency: 6/14. (PMID:37183190)
- Generalized convulsive status epilepticus (HP:0032661): A type of bilateral convulsive seizure of generalized onset that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus. Evidence: PCS. Frequency: 2/8. (PMID:34778490;PMID:26843181;PMID:27439707)
- Broad forehead (HP:0000337): Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead. Evidence: PCS. Frequency: 1/43. (PMID:23074684;PMID:19896112;PMID:35911904;PMID:21827697;PMID:37183190;PMID:19302947;PMID:16571880;PMID:33042910;PMID:25045150)
- Bulbous nose (HP:0000414): Increased volume and globular shape of the anteroinferior aspect of the nose. Evidence: PCS. Frequency: 2/44. (PMID:23074684;PMID:19896112;PMID:35911904;PMID:30762603;PMID:21827697;PMID:37183190;PMID:19302947;PMID:16571880;PMID:33042910;PMID:25045150)
- Motor stereotypy (HP:0000733): Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose. Evidence: PCS. Frequency: 9/16. (PMID:19896112;PMID:35911904;PMID:30762603;PMID:27439707;PMID:33042910;PMID:34641913)
- Periventricular leukomalacia (HP:0006970): Periventricular leukomalacia is characterized by diffuse injury of deep cerebral white matter, accompanied in its most severe form by focal necrosis. The neuropathologic hallmarks of PVL are microglial activation and focal and diffuse periventricular depletion of premyelinating oligodendroglia. Evidence: PCS. Frequency: 1/15. (PMID:34778490;PMID:26843181;PMID:19896112;PMID:30762603;PMID:27439707;PMID:19302947)
- Thin upper lip vermilion (HP:0000219): Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective). Evidence: PCS. Frequency: 2/43. (PMID:23074684;PMID:19896112;PMID:35911904;PMID:21827697;PMID:37183190;PMID:19302947;PMID:16571880;PMID:33042910;PMID:25045150)
- High palate (HP:0000218): Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). Evidence: PCS. Frequency: 1/42. (PMID:23074684;PMID:19896112;PMID:35911904;PMID:21827697;PMID:37183190;PMID:19302947;PMID:16571880;PMID:25045150)
- Low hanging columella (HP:0009765): Columella extending inferior to the level of the nasal base, when viewed from the side. Evidence: PCS. Frequency: 1/43. (PMID:23074684;PMID:19896112;PMID:35911904;PMID:21827697;PMID:37183190;PMID:19302947;PMID:16571880;PMID:33042910;PMID:25045150)
- Macrocephaly (HP:0000256): Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. Evidence: PCS. Frequency: 1/1. (PMID:35911904)
- Cerebellar vermis atrophy (HP:0006855): Wasting (atrophy) of the vermis of cerebellum. Evidence: PCS. Frequency: 5/34. (PMID:34778490;PMID:26843181;PMID:35911904;PMID:33895390;PMID:30762603;PMID:27439707;PMID:37183190)
- Cerebellar vermis hypoplasia (HP:0001320): Underdevelopment of the vermis of cerebellum. Evidence: PCS. Frequency: 1/2. (PMID:26843181)
- Wide mouth (HP:0000154): Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective). Evidence: PCS. Frequency: 3/43. (PMID:23074684;PMID:19896112;PMID:35911904;PMID:21827697;PMID:37183190;PMID:19302947;PMID:16571880;PMID:33042910;PMID:25045150)
- Cerebral atrophy (HP:0002059): Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum. Evidence: PCS. Frequency: 2/36. (PMID:34778490;PMID:26843181;PMID:35911904;PMID:33895390;PMID:30762603;PMID:27439707;PMID:37183190)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 2/2. (PMID:27066544)
- Delayed speech and language development (HP:0000750): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: PCS. Frequency: 51/55. (PMID:34778490;PMID:19896112;PMID:35911904;PMID:30762603;PMID:21827697;PMID:17646849;PMID:27066544;PMID:19302947;PMID:22031302;PMID:26843181;PMID:33895390;PMID:37183190;PMID:27439707;PMID:33042910;PMID:25045150)
- Status epilepticus (HP:0002133): Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures. Evidence: PCS. Frequency: 3/9. (PMID:16571880)
- Cerebellar hypoplasia (HP:0001321): Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time. Evidence: PCS. Frequency: 1/2. (PMID:19896112)
- Atonic seizure (HP:0010819): Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature. Evidence: PCS. Frequency: 2/38. (PMID:34778490;PMID:22031302;PMID:26843181;PMID:23074684;PMID:35911904;PMID:33895390;PMID:27439707;PMID:37183190;PMID:33042910)
- Reduced social responsiveness (HP:0012760): A reduced ability to participate in the back-and-forth flow of social interaction appropriate to culture and developmental level, which is normally characterized by an influence of the behavior of one person on the behavior of another person. This results in difficulty interacting with others through emotional, physical, or verbal communication. Evidence: TAS. (OMIM:610042)
- Reduced cerebral white matter volume (HP:0034295): An abnormally low volume of the white matter of the brain. Evidence: PCS. Frequency: 3/38. (PMID:34778490;PMID:26843181;PMID:19896112;PMID:35911904;PMID:30762603;PMID:33895390;PMID:27439707;PMID:37183190)
- Schizophrenia (HP:0100753): A mental disorder characterized by a disintegration of thought processes and emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking. It is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 1%. This term is not a helpful parent term to describe abnormal experiences. Evidence: PCS. Frequency: 1/1. (PMID:17646849)
- Tonic seizure (HP:0032792): A tonic seizure is a type of motor seizure characterized by unilateral or bilateral limb stiffening or elevation, often with neck stiffening. Evidence: PCS. Frequency: 11/38. (PMID:34778490;PMID:22031302;PMID:23074684;PMID:26843181;PMID:35911904;PMID:33895390;PMID:37183190;PMID:27439707;PMID:33042910)
- 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: 11/46. (PMID:34778490;PMID:22031302;PMID:26843181;PMID:23074684;PMID:35911904;PMID:33895390;PMID:37183190;PMID:27439707;PMID:16571880;PMID:33042910)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: PCS. Frequency: 1/7. (PMID:34778490;PMID:19896112;PMID:16571880;PMID:25045150)
- Synophrys (HP:0000664): Meeting of the medial eyebrows in the midline. Evidence: PCS. Frequency: 2/42. (PMID:23074684;PMID:19896112;PMID:35911904;PMID:21827697;PMID:37183190;PMID:19302947;PMID:16571880;PMID:25045150)
- 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: PCS. Frequency: 8/9. (PMID:16571880)
- Mandibular prognathia (HP:0000303): Abnormal prominence of the chin related to increased length of the mandible. Evidence: PCS. Frequency: 1/42. (PMID:23074684;PMID:19896112;PMID:35911904;PMID:21827697;PMID:37183190;PMID:19302947;PMID:16571880;PMID:25045150)
- Obesity (HP:0001513): Accumulation of substantial excess body fat. Evidence: PCS. Frequency: 1/1. (PMID:33895390)
- Diminished deep tendon reflex (HP:0001315): A reduction (hyporeflexia) or complete absence (areflexia) of the involuntary muscle contraction normally elicited by a reflex stimulus, such as tapping a deep tendon. Evidence: TAS. (OMIM:610042)