Total 28 clinical symptoms reported for Pyridoxine-dependent epilepsy  Occasional (15)Frequent (12)Always (1)

Abnormality of eye movement	An abnormality in voluntary or involuntary eye movements or their control.   Synonyms:Abnormal extraocular movement; Abnormal extraocular movements; Abnormal eye motility; Abnormal eye movement; Abnormal eye movements; Abnormal motility of the globe of the eye; Abnormal movement of the globe of the eye; Abnormal ocular movements; Abnormality of eye movement; Eye movement abnormalities; Eye movement issue; Ocular movement abnormalities; Oculomotor abnormalities	Occasional
Atonic seizure	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.   Synonyms:Astatic seizure; Astatic seizures; Atonic seizures; Drop attacks; Drop seizures; Hypotonic seizure	Occasional
Bilateral tonic-clonic seizure	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.   Synonyms:Bilateral convulsive seizures; Generalised tonic-clonic seizure (without specification of onset); Generalized convulsion; Generalized tonic-clonic seizure (without specification of onset); Grand mal; Grand mal seizures; Seizures, tonic-clonic; Tonic-clonic convulsion; Tonic-clonic convulsions	Occasional
Brain atrophy	Partial or complete wasting (loss) of brain tissue that was once present.   Synonyms:Brain degeneration; Brain wasting	Occasional
Delayed CNS myelination	Delayed myelination in the central nervous system.   Synonyms:Delay in central nervous system myelination	Occasional
Enlarged cisterna magna	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.   Synonyms:Large cisterna magna	Occasional
Epileptic spasm	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   Synonyms:Epileptic spasms; Salaam convulsion; Salaam convulsions; Salaam seizure; Salaam seizures	Occasional
Facial grimacing	Synonyms:Facial grimacing	Occasional
Focal myoclonic seizure	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.   Synonyms:Focal myoclonic seizures; Local myoclonic seizures; Localised myoclonic seizure; Localized myoclonic seizure; Partial myoclonic seizure; Partial myoclonic seizures; Segmental myoclonic seizure; Segmental myoclonic seizures	Occasional
Intellectual disability	Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.   Synonyms:Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation	Occasional
Meconium stained amniotic fluid	Amniotic fluid containing the earliest stools of a mammalian infant.   Synonyms:Meconium staining of amniotic fluid; Meconium-stained amniotic fluid	Occasional
Neonatal asphyxia	Respiratory failure in the newborn.   Synonyms:Asphyxia neonatorum	Occasional
Restlessness	A state of unease characterized by diffuse motor activity or motion subject to limited control, nonproductive or disorganized behavior, and subjective distress.   Synonyms:Restlessness	Occasional
Ventriculomegaly	An increase in size of the ventricular system of the brain.   Synonyms:Cerebral ventricular dilatation; Dilated cerebral ventricle; Dilated cerebral ventricles; Dilated ventricles; Enlarged cerebral ventricles; Enlarged ventricles; Enlarged ventricular system; Large cerebral ventricles and cisternae; Ventricular dilatation	Occasional
Widened subarachnoid space	An increase in size of the anatomic space between the arachnoid membrane and pia mater.   Synonyms:Enlarged subarachnoid space	Occasional