{"Name":"Pyridoxine-dependent epilepsy","DiseaseID__c":"GARD:0009298","id":9298,"encodedName":"pyridoxine-dependent-epilepsy","IsDeleted":false,"Disease_Name_Full__c":"Pyridoxine-dependent epilepsy","Xref_IDs__c":"734434007; C1849508; C210888; C536254; DOID:0080768; MEDGEN:340341; MONDO:0009945; ORPHA:3006","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0009945","Disease_Description__c":"A rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6).","GARD_Name__c":"Pyridoxine-dependent epilepsy","GARD_Synonym__c":"antiquitin deficiency; epeo4; epilepsy, early-onset, 4, vitamin b6-dependent; pd-dee - pyridoxine-dependent developmental and epileptic encephalopathy; pyridoxine dependency with seizures; pyridoxine-dependent dee (developmental and epileptic encephalopathy); pyridoxine-dependent developmental and epileptic encephalopathy; pyridoxine-dependent seizures; vitamin b6-dependent seizures","Curated_Disease_Description_Source__c":"GARD:0009298","Curated_Disease_Description__c":"Pyridoxine-dependent epilepsy is a condition that involves seizures beginning in infancy or, in some cases, before birth.  Those affected typically experience prolonged seizures lasting several minutes (status epilepticus).  These seizures involve muscle rigidity, convulsions, and loss of consciousness (tonic-clonic seizures).  Additional features of pyridoxine-dependent epilepsy include low body temperature (hypothermia), poor muscle tone (dystonia) soon after birth, and irritability before a seizure episode.  In rare instances, children with this condition do not have seizures until they are 1 to 3 years old. Anticonvulsant drugs,  which are usually given to control seizures, are ineffective in people with pyridoxine-dependent epilepsy.  Instead, people with this type of seizure are medically treated with large daily doses of pyridoxine (a type of vitamin B6 found in food).  If left untreated, people with this condition can develop severe brain dysfunction (encephalopathy).  Even though seizures can be controlled with pyridoxine, neurological problems such as developmental delay and learning disorders may still occur.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy, at Birth, and as an Infant","SourceID__c":"ORPHA:3006","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0009945","ORPHANET_ID__c":"ORPHA:3006","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Encefalopatía epiléptica y del desarrollo dependiente de piridoxina","Spanish_Description_Source__c":"ORPHA:3006","Spanish_Description__c":"Es una enfermedad neurometabólica poco frecuente, caracterizada por convulsiones recurrentes intratables durante el periodo prenatal, neonatal y postnatal que son resistentes a los fármacos antiepilépticos (FAE) pero responden a dosis farmacológicas de piridoxina (vitamina B6).","Spanish_Disease_Name__c":"encefalopatía epiléptica y del desarrollo dependiente de piridoxina","Spanish_GARD_Synonym__c":"crisis dependientes de vitamina b6; deficiencia de antiquitina; eed dependiente de piridoxina","Category_Linearization__c":"ORPHA:98006","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Pyridoxine-dependent epilepsy is a condition that involves seizures beginning in infancy or, in some cases, before birth.  Those affected typically experience prolonged seizures lasting several minutes (status epilepticus).  These seizures involve muscle rigidity, convulsions, and loss of consciousness (tonic-clonic seizures).  Additional features of pyridoxine-dependent epilepsy include low body temperature (hypothermia), poor muscle tone (dystonia) soon after birth, and irritability before a seizure episode.  In rare instances, children with this condition do not have seizures until they are 1 to 3 years old. Anticonvulsant drugs,  which are usually given to control seizures, are ineffective in people with pyridoxine-dependent epilepsy.  Instead, people with this type of seizure are medically treated with large daily doses of pyridoxine (a type of vitamin B6 found in food).  If left untreated, people with this condition can develop severe brain dysfunction (encephalopathy).  Even though seizures can be controlled with pyridoxine, neurological problems such as developmental delay and learning disorders may still occur.","Curated_Disease_Description_Source__c":"GARD:0009298","GARD_Synonym__c":"antiquitin deficiency; epeo4; epilepsy, early-onset, 4, vitamin b6-dependent; pd-dee - pyridoxine-dependent developmental and epileptic encephalopathy; pyridoxine dependency with seizures; pyridoxine-dependent dee (developmental and epileptic encephalopathy); pyridoxine-dependent developmental and epileptic encephalopathy; pyridoxine-dependent seizures; vitamin b6-dependent seizures","Name":"Pyridoxine-dependent epilepsy","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Organic Acidemia Association","Website__c":"https://oaanews.org/"},{"Account_Name__c":"CurePDE","Website__c":"https://curepde.org"},{"Account_Name__c":"Epilepsy Foundation","Website__c":"https://www.epilepsy.com/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:3006"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:3006"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:3006"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009298","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1486","Source__c":"Gene Review","Xref__c":"NBK1486"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK589231","Source__c":"Gene Review","Xref__c":"NBK589231"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080768","Source__c":"MONDO:0009945","Xref__c":"DOID:0080768"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=340341","Source__c":"C1849508","Xref__c":"MEDGEN:340341"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=734434007","Source__c":"C1849508; MONDO:0009945","Xref__c":"734434007"},{"URL__c":"https://www.orpha.net/en/disease/detail/3006","Source__c":"C1849508; MONDO:0009945; ORPHA:3006","Xref__c":"ORPHA:3006"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1849508","Source__c":"C1849508","Xref__c":"C1849508"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536254","Source__c":"MONDO:0009945","Xref__c":"C536254"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C210888","Source__c":"C1849508","Xref__c":"C210888"},{"URL__c":"https://medlineplus.gov/genetics/condition/pyridoxine-dependent-epilepsy","Source__c":"GARD:0009298","Xref__c":"https://medlineplus.gov/genetics/condition/pyridoxine-dependent-epilepsy"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009945","Source__c":"GARD:0009298","Xref__c":"MONDO:0009945"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ALDH7A1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/aldh7a1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3006","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Typical absence seizures starting before the age of 4 years.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011152","HPO_Synonym__c":"Early onset petit mal seizures","HPO_Name__c":"Early onset absence seizures","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3006","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A decreased concentration of glucose in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001943","HPO_Synonym__c":"Hypoglycaemia; Low blood sugar","HPO_Name__c":"Hypoglycemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3006","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Delayed myelination in the central nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002188","HPO_Synonym__c":"Delay in central nervous system myelination","HPO_Name__c":"Delayed CNS myelination","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3006","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of fetal movement.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001557","HPO_Synonym__c":"Abnormal intrauterine movements","HPO_Name__c":"Prenatal movement abnormality","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3006","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010851","HPO_Name__c":"EEG with burst suppression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:3006","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"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).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002521","HPO_Synonym__c":"Hypsarrhythmia by EEG","HPO_Name__c":"Hypsarrhythmia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:3006","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3006","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Respiratory failure in the newborn.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012768","HPO_Synonym__c":"Asphyxia neonatorum","HPO_Name__c":"Neonatal asphyxia","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3006","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000273","HPO_Synonym__c":"Facial grimacing","HPO_Name__c":"Facial grimacing","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3006","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality in voluntary or involuntary eye movements or their control.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000496","HPO_Synonym__c":"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","HPO_Name__c":"Abnormality of eye movement","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3006","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"EEG discharges recorded on the entire scalp typically seen in persons with epilepsy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011198","HPO_Name__c":"EEG with generalized epileptiform discharges","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:3006","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025116","HPO_Name__c":"Fetal distress","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3006","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003128","HPO_Synonym__c":"Hyperlacticacidemia; Increased lactate in body; Lactic acidemia; Lacticacidemia; Lacticacidosis","HPO_Name__c":"Lactic acidosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3006","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010845","HPO_Synonym__c":"EEG: generalized slow activity","HPO_Name__c":"EEG with generalized slow activity","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:3006","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) and being identified at multiple locations (foci).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010841","HPO_Synonym__c":"Multifocal EEG abnormality","HPO_Name__c":"Multifocal epileptiform discharges","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:3006","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of focal motor seizure in which awareness is retained throughout the seizure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0020217","HPO_Synonym__c":"Focal motor aware seizure","HPO_Name__c":"Focal aware motor seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3006","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increase in size of the ventricular system of the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002119","HPO_Synonym__c":"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","HPO_Name__c":"Ventriculomegaly","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3006","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"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","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011097","HPO_Synonym__c":"Epileptic spasms; Salaam convulsion; Salaam convulsions; Salaam seizure; Salaam seizures","HPO_Name__c":"Epileptic spasm","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3006","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007359","HPO_Synonym__c":"Focal onset seizure; Focal seizure; Focal seizures; Focal-onset seizures; Partial seizure; Partial seizures; Seizure affecting one half of brain","HPO_Name__c":"Focal-onset seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3006","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002133","HPO_Synonym__c":"Prolonged seizure; Repeated seizure without recovery; Repeated seizures without recovery between them","HPO_Name__c":"Status epilepticus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3006","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012758","HPO_Synonym__c":"NDD","HPO_Name__c":"Neurodevelopmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3006","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increase in size of the anatomic space between the arachnoid membrane and pia mater.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012704","HPO_Synonym__c":"Enlarged subarachnoid space","HPO_Name__c":"Widened subarachnoid space","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3006","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Partial or complete wasting (loss) of brain tissue that was once present.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012444","HPO_Synonym__c":"Brain degeneration; Brain wasting","HPO_Name__c":"Brain atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3006","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030917","HPO_Name__c":"Low APGAR score","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3006","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"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).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000737","HPO_Synonym__c":"Cranky; Easily annoyed; Easily bothered; Easily upset; Grumpy; Hot-temper; Irritability; Irritable; Irritable mood; On edge; Quick-temper; Short fuse; Short tempered","HPO_Name__c":"Irritability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3006","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011166","HPO_Synonym__c":"Focal myoclonic seizures; Local myoclonic seizures; Localised myoclonic seizure; Localized myoclonic seizure; Partial myoclonic seizure; Partial myoclonic seizures; Segmental myoclonic seizure; Segmental myoclonic seizures","HPO_Name__c":"Focal myoclonic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3006","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Amniotic fluid containing the earliest stools of a mammalian infant.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012420","HPO_Synonym__c":"Meconium staining of amniotic fluid; Meconium-stained amniotic fluid","HPO_Name__c":"Meconium stained amniotic fluid","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3006","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the corpus callosum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002079","HPO_Synonym__c":"Corpus callosum hypoplasia; Hypoplasia of corpus callosum; Hypoplastic corpus callosum; Underdevelopment of part of brain called corpus callosum","HPO_Name__c":"Hypoplasia of the corpus callosum","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3006","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3006","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011968","HPO_Synonym__c":"Decreased oral intake; Feeding difficulties; Feeding problems; Poor feeding","HPO_Name__c":"Feeding difficulties","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3006","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"EEG with generalized sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011199","HPO_Name__c":"EEG with generalized sharp slow waves","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:3006","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A state of unease is characterized by diffuse motor activity or motion, which is subject to limited control, nonproductive, or disorganized behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000711","HPO_Synonym__c":"Fidgetiness; Restiveness","HPO_Name__c":"Restlessness","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3006","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Respiratory difficulty as newborn.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002643","HPO_Synonym__c":"Infantile respiratory distress; Neonatal respiratory distress; Newborn respiratory distress; Respiratory distress, neonatal","HPO_Name__c":"Neonatal respiratory distress","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3006","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010819","HPO_Synonym__c":"Astatic seizure; Astatic seizures; Atonic seizures; Drop attacks; Drop seizures; Hypotonic seizure","HPO_Name__c":"Atonic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3006","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002280","HPO_Synonym__c":"Large cisterna magna","HPO_Name__c":"Enlarged cisterna magna","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Epilepsy","Neurodevelopmental disabilities","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["antiquitin deficiency"," epeo4"," epilepsy, early-onset, 4, vitamin b6-dependent"," pd-dee - pyridoxine-dependent developmental and epileptic encephalopathy"," pyridoxine dependency with seizures"," pyridoxine-dependent dee (developmental and epileptic encephalopathy)"," pyridoxine-dependent developmental and epileptic encephalopathy"," pyridoxine-dependent seizures"," vitamin b6-dependent seizures"]}