Phenotypes associated with the disease developmental and epileptic encephalopathy, 1 (OMIM:308350, an entry in Online Mendelian Inheritance in Man):
- Hypertonia (HP:0001276, a Human Phenotype Ontology term): A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. Evidence: PCS. Frequency: 1/1. (PMID:11889467)
- Poor head control (HP:0002421, a Human Phenotype Ontology term): Difficulty to maintain correct position of the head while standing or sitting. Infant head lag is observed when the head seems to flop around or lags posteriorly behind the trunk. Several articles have maintained that head lag should be absent by age 3 to 4 months. Evidence: PCS. Frequency: 1/1. (PMID:11889467)
- Congenital onset (HP:0003577, a Human Phenotype Ontology term): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 1/1. (PMID:11889467)
- Hypsarrhythmia (HP:0002521, a Human Phenotype Ontology term): Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG). Evidence: PCS. Frequency: 2/2. Onset: Infantile onset (HP:0003593, a Human Phenotype Ontology term). (PMID:17668384)
- Hypsarrhythmia (HP:0002521, a Human Phenotype Ontology term): Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG). Evidence: PCS. Frequency: 2/2. (PMID:21108397)
- Hypsarrhythmia (HP:0002521, a Human Phenotype Ontology term): Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG). Evidence: PCS. Frequency: 1/1. (PMID:11889467)
- Delayed CNS myelination (HP:0002188, a Human Phenotype Ontology term): Delayed myelination in the central nervous system. Evidence: PCS. Frequency: 1/1. (PMID:11889467)
- Dystonia (HP:0001332, a Human Phenotype Ontology term): 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: IEA. (OMIM:308350)
- Generalized myoclonic seizure (HP:0002123, a Human Phenotype Ontology term): 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: IEA. (OMIM:308350)
- Global brain atrophy (HP:0002283, a Human Phenotype Ontology term): Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size. Evidence: PCS. Frequency: 2/2. (PMID:21108397)
- Infantile spasms (HP:0012469, a Human Phenotype Ontology term): Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy). Evidence: PCS. Frequency: 1/1. (PMID:11889467)
- Reduced eye contact (HP:0000817, a Human Phenotype Ontology term): A reduced frequency or duration of eye contact. Evidence: PCS. Frequency: 1/1. (PMID:11889467)
- Ventriculomegaly (HP:0002119, a Human Phenotype Ontology term): An increase in size of the ventricular system of the brain. Evidence: IEA. (OMIM:308350)
- Intellectual disability (HP:0001249, a Human Phenotype Ontology term): 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:21108397)
- Hyperreflexia (HP:0001347, a Human Phenotype Ontology term): Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. Evidence: IEA. (OMIM:308350)
- Neonatal onset (HP:0003623, a Human Phenotype Ontology term): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 4/4. (PMID:21108397;PMID:17668384)
- Axial hypotonia (HP:0008936, a Human Phenotype Ontology term): Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk. Evidence: IEA. (OMIM:308350)
- Dysphagia (HP:0002015, a Human Phenotype Ontology term): Difficulty in swallowing. Evidence: IEA. (OMIM:308350)
- Microcephaly (HP:0000252, a Human Phenotype Ontology term): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: PCS. Frequency: 13/13. (PMID:21108397;PMID:11889467;OMIM:308350)
- Micropenis (HP:0000054, a Human Phenotype Ontology term): Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm. Evidence: PCS. Frequency: 2/4. (PMID:21108397;PMID:17668384)
- Choreoathetosis (HP:0001266, a Human Phenotype Ontology term): Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements). Evidence: IEA. (OMIM:308350)
- Erratic myoclonus (HP:0025357, a Human Phenotype Ontology term): A type of myoclonus in which the myoclonias shift from body region to another in a random and asynchronous fashion. Erratic myoclonus can affect the face or limbs, are brief, single or repetitive, very frequent and nearly continuous. Evidence: PCS. Frequency: 1/2. (PMID:21108397)
- Global developmental delay (HP:0001263, a Human Phenotype Ontology term): 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: 3/3. (PMID:21108397;PMID:11889467)
- Spastic tetraparesis (HP:0001285, a Human Phenotype Ontology term): Spastic weakness affecting all four limbs. Evidence: PCS. Frequency: 1/2. (PMID:21108397)
- Dyspnea (HP:0002094, a Human Phenotype Ontology term): Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. Evidence: IEA. (OMIM:308350)
- EEG with burst suppression (HP:0010851, a Human Phenotype Ontology term): The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes. Evidence: PCS. Frequency: 4/4. (PMID:21108397;PMID:17668384)
- Severe global developmental delay (HP:0011344, a Human Phenotype Ontology term): A severe delay in the achievement of motor or mental milestones in the domains of development of a child. Evidence: PCS. Frequency: 2/2. (PMID:17668384)
- Dyskinesia (HP:0100660, a Human Phenotype Ontology term): A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements. Evidence: TAS. (OMIM:308350)
- X-linked recessive inheritance (HP:0001419, a Human Phenotype Ontology term): A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. Evidence: PCS. (PMID:11889467)
- Tonic seizure (HP:0032792, a Human Phenotype Ontology term): 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: 2/2. Onset: Neonatal onset (HP:0003623, a Human Phenotype Ontology term). (PMID:17668384)
- Focal motor seizure (HP:0011153, a Human Phenotype Ontology term): A type of focal-onset seizure characterized by a motor sign as its initial semiological manifestation. Evidence: PCS. Frequency: 1/2. (PMID:21108397)
- Abnormal pyramidal sign (HP:0007256, a Human Phenotype Ontology term): Functional neurological abnormalities related to dysfunction of the pyramidal tract. Evidence: PCS. Frequency: 1/2. (PMID:21108397)
- Microphthalmia (HP:0000568, a Human Phenotype Ontology term): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: PCS. Frequency: 1/1. (PMID:11889467)
- Epileptic encephalopathy (HP:0200134, a Human Phenotype Ontology term): A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death. Evidence: PCS. Frequency: 2/2. (PMID:17668384)
- Epileptic encephalopathy (HP:0200134, a Human Phenotype Ontology term): A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death. Evidence: PCS. Frequency: 2/2. Onset: Neonatal onset (HP:0003623, a Human Phenotype Ontology term). (PMID:21108397)
- Plagiocephaly (HP:0001357, a Human Phenotype Ontology term): Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape. Evidence: PCS. Frequency: 1/1. (PMID:11889467)
- Focal-onset seizure (HP:0007359, a Human Phenotype Ontology term): 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: 2/2. (PMID:21108397)
- Growth delay (HP:0001510, a Human Phenotype Ontology term): A deficiency or slowing down of growth pre- and postnatally. Evidence: PCS. Frequency: 1/2. (PMID:21108397)