- 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: Obligate (HP:0040280). (ORPHA:300570)
- 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:300570)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:300570)
- Abnormality of eye movement (HP:0000496): An abnormality in voluntary or involuntary eye movements or their control. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:300570)
- Esotropia (HP:0000565): A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:300570)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:300570)
- 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: Frequent (HP:0040282). (ORPHA:300570)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:300570)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:300570)
- Partial agenesis of the corpus callosum (HP:0001338): A partial failure of the development of the corpus callosum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:300570)
- Lissencephaly (HP:0001339): A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:300570)
- Bilateral ptosis (HP:0001488). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:300570)
- Hypoplasia of the corpus callosum (HP:0002079): Underdevelopment of the corpus callosum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:300570)
- 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:300570)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:300570)
- Abnormal cerebellar vermis morphology (HP:0002334): An anomaly of the vermis of cerebellum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:300570)
- Hypoplasia of the brainstem (HP:0002365): Underdevelopment of the brainstem. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:300570)
- Poor speech (HP:0002465). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:300570)
- Expressive language delay (HP:0002474): A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:300570)
- Spastic ataxia (HP:0002497). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:300570)
- Inability to walk (HP:0002540): Incapability to ambulate. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:300570)
- Type II lissencephaly (HP:0007260): A form of lissencephaly characterized by an uneven cortical surface with a so called 'cobblestone' appearace. There are no distinguishable cortical layers. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:300570)
- Feeding difficulties in infancy (HP:0008872): Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:300570)
- Postnatal growth retardation (HP:0008897): Slow or limited growth after birth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:300570)
- Axial hypotonia (HP:0008936): Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:300570)
- Simplified gyral pattern (HP:0009879): An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:300570)
- 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: Frequent (HP:0040282). (ORPHA:300570)
- Severe global developmental delay (HP:0011344): A severe delay in the achievement of motor or mental milestones in the domains of development of a child. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:300570)
- Delayed ability to sit (HP:0025336): A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:300570)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:300570)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:300570)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:300570)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:300570)
- Low-set ears (HP:0000369): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:300570)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:300570)
- Torticollis (HP:0000473): Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:300570)
- Downslanted palpebral fissures (HP:0000494): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:300570)
- Abnormal saccadic eye movements (HP:0000570): An abnormality of eye movement characterized by impairment of fast (saccadic) eye movements. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:300570)
- Visual loss (HP:0000572): Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:300570)
- Optic nerve hypoplasia (HP:0000609): Underdevelopment of the optic nerve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:300570)
- Oculomotor apraxia (HP:0000657): Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancelation of the vestibulo-ocular reflex. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:300570)
- Emotional lability (HP:0000712): Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:300570)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:300570)
- Short attention span (HP:0000736): Reduced attention span characterized by distractibility and impulsivity. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:300570)
- 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:300570)
- Spastic diplegia (HP:0001264): Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:300570)
- Cerebellar vermis hypoplasia (HP:0001320): Underdevelopment of the vermis of cerebellum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:300570)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:300570)
- Plagiocephaly (HP:0001357): Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:300570)
- Joint hypermobility (HP:0001382): The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:300570)
- Congenital fibrosis of extraocular muscles (HP:0001491): Congenital non-progressive ophthalmoplegia with multiple extraocular muscle restrictions. Typically, there is ptosis and variable degrees of restriction of horizontal and vertical eye movements. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:300570)
- Short foot (HP:0001773): A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:300570)
- Metatarsus adductus (HP:0001840): The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:300570)
- Abnormal basal ganglia morphology (HP:0002134): Abnormality of the basal ganglia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:300570)
- Normal pressure hydrocephalus (HP:0002343): A form of hydrocephalus characterized by enlarged cerebral ventricles and normal cerebrospinal fluid (CSF) pressure upon lumbar puncture. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:300570)
- Spastic tetraplegia (HP:0002510): Spastic paralysis affecting all four limbs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:300570)
- Kyphoscoliosis (HP:0002751): An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:300570)
- Genu valgum (HP:0002857): The legs angle inward, such that the knees are close together and the ankles far apart. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:300570)
- Thoracic scoliosis (HP:0002943). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:300570)
- Cubitus valgus (HP:0002967): Abnormal positioning in which the elbows are turned out. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:300570)
- Impaired mastication (HP:0005216): An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:300570)
- Flat occiput (HP:0005469): Reduced convexity of the occiput (posterior part of skull). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:300570)
- Lateral ventricle dilatation (HP:0006956). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:300570)
- Large basal ganglia (HP:0007048): Increased size of the basal ganglia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:300570)
- 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: Occasional (HP:0040283). (ORPHA:300570)
- Bilateral sensorineural hearing impairment (HP:0008619): A form of sensorineural hearing impairment that affects both ears. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:300570)
- Abnormal thalamus morphology (HP:0010663): An abnormality of the thalamus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:300570)
- Primary microcephaly (HP:0011451): Head circumference below 2 standard deviations below the mean for age and gender at birth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:300570)
- Abnormal autonomic nervous system physiology (HP:0012332): A functional abnormality of the autonomic nervous system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:300570)
- Delayed early-childhood social milestone development (HP:0012434): A failure to meet one or more age-related milestones of social behavior. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:300570)
- Small basal ganglia (HP:0012697): Decreased size of the basal ganglia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:300570)
- 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. Frequency: Occasional (HP:0040283). (ORPHA:300570)
- Dysgenesis of the hippocampus (HP:0025101): Structural abnormality of the hippocampus related to defective development. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:300570)
- Agenesis of the anterior commissure (HP:0030302): Absence of the anterior commissure. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:300570)
- Abnormal best corrected visual acuity test (HP:0030534). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:300570)
- Grasp reflex (HP:0030903): A type of primitive reflex that can be elicated when the hand of the examiner is gently inserted into the palm of the patient's hand. The palmar surface is stroked or simply touched. The flexor surfaces of the fingers may be stimulated also by the examiner's fingers. The stimulus should be in a distal direction. With a positive response, the patient grasps the examiner's hand with variable strength and continues to grasp as the examiner's hand is moved. Ability to release the grip voluntarily depends on the activity of the reflex; some patients can do so readily, while others can even be lifted off the bed, since the grasp has such power [NCBI Books:NBK395]. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:300570)
- Hypoplasia of the olfactory bulb (HP:0040326): Underdevelopment of the olfactory bulb. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:300570)
- Insomnia (HP:0100785): Persistent difficulty in starting or maintaining sleep, or waking up earlier than desired, despite having adequate opportunities and conditions for sleep. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:300570)
- Small hand (HP:0200055): Disproportionately small hand. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:300570)
These phenotypes are associated with the disease Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570).