Phenotypes associated with the disease Pyridoxine-dependent-developmental and epileptic encephalopathy (ORPHA:3006):
- Lactic acidosis (HP:0003128): An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3006)
- 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:3006)
- 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:3006)
- Prenatal movement abnormality (HP:0001557): An abnormality of fetal movement. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3006)
- Hypoplasia of the corpus callosum (HP:0002079): Underdevelopment of the corpus callosum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3006)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3006)
- Neonatal respiratory distress (HP:0002643): Respiratory difficulty as newborn. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3006)
- 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: Frequent (HP:0040282). (ORPHA:3006)
- EEG with generalized slow activity (HP:0010845): Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3006)
- EEG with burst suppression (HP:0010851): 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3006)
- Early onset absence seizures (HP:0011152): Typical absence seizures starting before the age of 4 years. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3006)
- Feeding difficulties (HP:0011968): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3006)
- Neurodevelopmental delay (HP:0012758): Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3006)
- Focal aware motor seizure (HP:0020217): A type of focal motor seizure in which awareness is retained throughout the seizure. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3006)
- Fetal distress (HP:0025116): An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3006)
- Low APGAR score (HP:0030917). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3006)
- Facial grimacing (HP:0000273). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3006)
- Abnormality of eye movement (HP:0000496): An abnormality in voluntary or involuntary eye movements or their control. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3006)
- Restlessness (HP:0000711): A state of unease is characterized by diffuse motor activity or motion, which is subject to limited control, nonproductive, or disorganized behavior. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3006)
- 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: Occasional (HP:0040283). (ORPHA:3006)
- Ventriculomegaly (HP:0002119): An increase in size of the ventricular system of the brain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3006)
- Delayed CNS myelination (HP:0002188): Delayed myelination in the central nervous system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3006)
- Enlarged cisterna magna (HP:0002280): Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3006)
- Hypsarrhythmia (HP:0002521): 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3006)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3006)
- Multifocal epileptiform discharges (HP:0010841): An abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) and being identified at multiple locations (foci). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3006)
- Epileptic spasm (HP:0011097): A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: Grimacing, head nodding, or subtle eye movements. Epileptic spasms frequently occur in clusters. Infantile spasms are the best known form, but spasms can occur at all ages. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3006)
- Focal myoclonic seizure (HP:0011166): A type of focal motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3006)
- EEG with generalized epileptiform discharges (HP:0011198): EEG discharges recorded on the entire scalp typically seen in persons with epilepsy. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3006)
- EEG with generalized sharp slow waves (HP:0011199): EEG with generalized sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3006)
- Meconium stained amniotic fluid (HP:0012420): Amniotic fluid containing the earliest stools of a mammalian infant. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3006)
- Brain atrophy (HP:0012444): Partial or complete wasting (loss) of brain tissue that was once present. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3006)
- Widened subarachnoid space (HP:0012704): An increase in size of the anatomic space between the arachnoid membrane and pia mater. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3006)
- Neonatal asphyxia (HP:0012768): Respiratory failure in the newborn. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3006)
- Hypoglycemia (HP:0001943): A decreased concentration of glucose in the blood. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3006)