{"Name":"EAST syndrome","DiseaseID__c":"GARD:0010514","id":10514,"encodedName":"east-syndrome","IsDeleted":false,"Disease_Name_Full__c":"EAST syndrome","Xref_IDs__c":"721207002; C2748572; C557674; DOID:0060484; MEDGEN:411243; MONDO:0013005; OMIM:612780; ORPHA:199343","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":7,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0013005","Disease_Description__c":"A rare genetic disease characterized by the association of epilepsy, ataxia, sensorineural hearing impairment, and renal tubulopathy. Patients present in infancy with generalized seizures, cerebellar dysfunction (including gait ataxia, intention tremor, and dysdiadochokinesis), and variable developmental delay and sensorineural hearing loss. Laboratory studies show persistent hypokalemic metabolic acidosis with hypomagnesemia. Additional reported neurologic features include brisk deep tendon reflexes, ankle clonus, extensor plantar responses, or nystagmus.","GARD_Name__c":"EAST syndrome","GARD_Synonym__c":"east (epilepsy, ataxia, sensorineural deafness, and tubulopathy) syndrome; epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome; epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome; epilepsy, ataxia, sensorineural deafness and tubulopathy; seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome; seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome; seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome; seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance; seizures, sensorineural deafness, ataxia, intellectual disability and electrolyte imbalance; seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance syndrome; sesame (seizures, sensorineural deafness, ataxia, mental retardation, electrolyte imbalance) syndrome; sesame syndrome","Curated_Disease_Description_Source__c":"GARD:0010514","Curated_Disease_Description__c":"SeSAME syndrome is characterized by Seizures, Sensorineural deafness, Ataxia (lack of muscle coordination), intellectual (Mental) disability, and Electrolyte imbalance (low levels of potassium and magnesium in the blood, hypokalemia and hypomagnesemia, and metabolic alkalosis). It may also be known as EAST syndrome (Epilepsy, Ataxia, Sensorineural deafness, and Tubulopathy (kidney problems in the structures known as tubules)). Seizures tend to start in early childhood. The seizures are typically of the generalized tonic-clonic seizure type (also known as grand mal seizures), but they usually respond well to medication. Non-progressive, cerebellar ataxia and hearing loss start later. The ataxia seems to be the most debilitating feature of the syndrome. It is caused by genetic changes in the KCNJ10 gene, and inherited in an autosomal recessive pattern.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:199343","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013005","ORPHANET_ID__c":"ORPHA:199343","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome east","Spanish_Description_Source__c":"ORPHA:199343","Spanish_Description__c":"Es una enfermedad poco frecuente de origen genético caracterizada por la asociación de epilepsia, ataxia, discapacidad auditiva neurosensorial y tubulopatía renal. Debuta en el periodo de lactancia con convulsiones generalizadas, disfunción cerebelosa (incluyendo ataxia de la marcha, temblor de intención y disdiadococinesis), así como retraso variable del desarrollo e hipoacusia neurosensorial. Las pruebas bioquímicas muestran acidosis metabólica hipocalémica persistente con hipomagnesemia. Otros rasgos neurológicos descritos son: reflejos tendinosos profundos vivos, clonus del tobillo, respuesta plantar extensora o nistagmo.","Spanish_Disease_Name__c":"síndrome east","Spanish_GARD_Synonym__c":"síndrome de convulsiones-hipoacusia neurosensorial-ataxia-discapacidad intelectual-desequilibrio electrolítico; síndrome de convulsiones-sordera neurosensorial-ataxia-discapacidad intelectual-desequilibrio electrolítico; síndrome de epilepsia-ataxia-hipoacusia neurosensorial-tubulopatía; síndrome de epilepsia-ataxia-sordera neurosensorial-tubulopatía; síndrome sesame","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":"SeSAME syndrome is characterized by Seizures, Sensorineural deafness, Ataxia (lack of muscle coordination), intellectual (Mental) disability, and Electrolyte imbalance (low levels of potassium and magnesium in the blood, hypokalemia and hypomagnesemia, and metabolic alkalosis). It may also be known as EAST syndrome (Epilepsy, Ataxia, Sensorineural deafness, and Tubulopathy (kidney problems in the structures known as tubules)). Seizures tend to start in early childhood. The seizures are typically of the generalized tonic-clonic seizure type (also known as grand mal seizures), but they usually respond well to medication. Non-progressive, cerebellar ataxia and hearing loss start later. The ataxia seems to be the most debilitating feature of the syndrome. It is caused by genetic changes in the KCNJ10 gene, and inherited in an autosomal recessive pattern.","Curated_Disease_Description_Source__c":"GARD:0010514","GARD_Synonym__c":"east (epilepsy, ataxia, sensorineural deafness, and tubulopathy) syndrome; epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome; epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome; epilepsy, ataxia, sensorineural deafness and tubulopathy; seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome; seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome; seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome; seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance; seizures, sensorineural deafness, ataxia, intellectual disability and electrolyte imbalance; seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance syndrome; sesame (seizures, sensorineural deafness, ataxia, mental retardation, electrolyte imbalance) syndrome; sesame syndrome","Name":"EAST syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Ataxia Foundation","Website__c":"https://ataxia.org/"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Epilepsy Foundation","Website__c":"https://www.epilepsy.com/"},{"Account_Name__c":"Epilepsy Action","Website__c":"https://www.epilepsy.org.uk/"}],"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":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"Tag_Name__c":"Ataxia","Tag_Category__c":"Account","curated_tag_name":"Ataxia"},{"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":"Infancy","Provided_By__c":"ORPHA:199343"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:199343"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2748572"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010514","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2748572","Source__c":"C2748572","Xref__c":"C2748572"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060484","Source__c":"MONDO:0013005","Xref__c":"DOID:0060484"},{"URL__c":"https://www.omim.org/entry/612780","Source__c":"C2748572; MONDO:0013005; ORPHA:199343","Xref__c":"OMIM:612780"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=411243","Source__c":"C2748572","Xref__c":"MEDGEN:411243"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=721207002","Source__c":"C2748572; MONDO:0013005","Xref__c":"721207002"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C557674","Source__c":"MONDO:0013005","Xref__c":"C557674"},{"URL__c":"https://www.orpha.net/en/disease/detail/199343","Source__c":"C2748572; MONDO:0013005; ORPHA:199343","Xref__c":"ORPHA:199343"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013005","Source__c":"GARD:0010514","Xref__c":"MONDO:0013005"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KCNJ10","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:199343","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased level of renin in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000848","HPO_Synonym__c":"Elevated blood renin level; Elevated plasma renin; Hyperreninemia; Increased circulating renin level; Increased plasma renin; Increased serum renin","HPO_Name__c":"Increased circulating renin concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199343","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally decreased potassium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002900","HPO_Synonym__c":"Low blood potassium levels","HPO_Name__c":"Hypokalemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:199343","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001272","HPO_Synonym__c":"Atrophic cerebellum; Degeneration of cerebellum","HPO_Name__c":"Cerebellar atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199343","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Incapability to ambulate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002540","HPO_Synonym__c":"Inability to walk; Non-ambulatory","HPO_Name__c":"Inability to walk","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199343","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The term gait disturbance can refer to any disruption of the ability to walk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001288","HPO_Synonym__c":"Abnormal gait; Abnormal walk; Difficulty in walking; Gait abnormalities; Gait difficulties; Gait disturbances; Impaired gait; Walking disability","HPO_Name__c":"Gait disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199343","HPO_Frequency__c":"Very frequent (80-99%)","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:199343","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality in the concentration of electrolytes in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012591","HPO_Synonym__c":"Urinary electrolyte imbalance","HPO_Name__c":"Abnormal urinary electrolyte concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:199343","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Metabolic alkalosis is defined as a disease state where the pH is elevated to greater than 7.45 secondary to some metabolic process.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200114","HPO_Name__c":"Metabolic alkalosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:199343","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hypersalivation, also known as salt craving, refers to an excessive desire to consume salt (sodium chloride) or salty foods.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030083","HPO_Synonym__c":"Salt craving","HPO_Name__c":"Salt craving","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199343","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally increased sodium concentration in the urine in the presence of hyponatremia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012606","HPO_Synonym__c":"Kidney sodium wasting; Renal Na wasting; Renal Na+ wasting","HPO_Name__c":"Renal sodium wasting","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:199343","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000805","HPO_Name__c":"Enuresis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199343","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199343","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"High urine magnesium in the presence of hypomagnesemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005567","HPO_Name__c":"Renal magnesium wasting","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:199343","HPO_Frequency__c":"Very frequent (80-99%)","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:199343","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Overproduction of the mineralocorticoid aldosterone by the adrenal cortex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000859","HPO_Synonym__c":"Elevated plasma aldosterone; Increased aldosterone; Increased aldosterone production; Mineralocorticoid excess","HPO_Name__c":"Increased circulating aldosterone concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199343","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001251","HPO_Synonym__c":"Cerebellar ataxia","HPO_Name__c":"Ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199343","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199343","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Complete lack of development of speech and language abilities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001344","HPO_Synonym__c":"Absent speech development; Lack of language development; Lack of speech; No speech development; No speech or language development; Nonverbal","HPO_Name__c":"Absent speech","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199343","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Excessive thirst manifested by excessive fluid intake.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001959","HPO_Synonym__c":"Extreme thirst","HPO_Name__c":"Polydipsia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199343","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the peripheral nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007182","HPO_Name__c":"Peripheral hypomyelination","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199343","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000127","HPO_Synonym__c":"Loss of salt in urine; Renal salt-wasting; Salt wasting; Salt-wasting","HPO_Name__c":"Renal salt wasting","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:199343","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002197","HPO_Synonym__c":"Generalized onset seizure; Generalized seizures; Generalized-onset seizures; Primary generalized seizure","HPO_Name__c":"Generalized-onset seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199343","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002345","HPO_Name__c":"Action tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199343","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Weakness of the muscles of the legs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007340","HPO_Synonym__c":"Leg weakness; Lower extremity weakness; Lower limb muscle weakness; Lower limb weakness; Muscle weakness in lower limbs","HPO_Name__c":"Lower limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199343","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally decreased magnesium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002917","HPO_Synonym__c":"Low blood magnesium levels; Low blood Mg levels","HPO_Name__c":"Hypomagnesemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:199343","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality characterized by disruption of the normal functioning of peripheral axons.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003477","HPO_Synonym__c":"Axonal neuropathy; Axonal peripheral neuropathy","HPO_Name__c":"Peripheral axonal neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Nephrology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Nephrology","Otolaryngology","Epilepsy","Neurodevelopmental disabilities","Pediatrics"],"Account":["Nephrology","Epilepsy","Ataxia"]},"synonyms":["east (epilepsy, ataxia, sensorineural deafness, and tubulopathy) syndrome"," epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome"," epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome"," epilepsy, ataxia, sensorineural deafness and tubulopathy"," seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome"," seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome"," seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome"," seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance"," seizures, sensorineural deafness, ataxia, intellectual disability and electrolyte imbalance"," seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance syndrome"," sesame (seizures, sensorineural deafness, ataxia, mental retardation, electrolyte imbalance) syndrome"," sesame syndrome"],"spanishId":12993,"spanishName":"sindrome-sesame"}