{"Name":"Developmental and epileptic encephalopathy, 39","DiseaseID__c":"GARD:0017532","id":17532,"encodedName":"developmental-and-epileptic-encephalopathy-39","IsDeleted":false,"Disease_Name_Full__c":"Developmental and epileptic encephalopathy, 39","Xref_IDs__c":"726702005; C2751855; C567847; DOID:0080349; MEDGEN:414492; MONDO:0013056; OMIM:612949; ORPHA:353217","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0013056","Disease_Description__c":"Epileptic encephalopathy with global cerebral demyelination is a rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.","GARD_Name__c":"Developmental and epileptic encephalopathy, 39","GARD_Synonym__c":"agc1 deficiency; dee39; developmental and epileptic encephalopathy 39; developmental and epileptic encephalopathy 39 with leukodystrophy; early infantile epileptic encephalopathy caused by mutation in slc25a12; eiee39; epileptic encephalopathy with global cerebral demyelination; epileptic encephalopathy, early infantile, 39; mitochondrial aspartate-glutamate carrier 1 deficiency; slc25a12 early infantile epileptic encephalopathy","Curated_Disease_Description_Source__c":"MONDO:0013056","Curated_Disease_Description__c":"Epileptic encephalopathy with global cerebral demyelination is a rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:353217","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013056","ORPHANET_ID__c":"ORPHA:353217","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Encefalopatía epiléptica con desmielinización cerebral global","Spanish_Description_Source__c":"ORPHA:353217","Spanish_Description__c":"La encefalopatía epiléptica con desmielinización cerebral generalizada es un trastorno poco frecuente de los transportadores mitocondriales caracterizado por hipotonía muscular grave, crisis (con o sin episodios de apnea) de inicio durante el primer año de vida, y detención del desarrollo psicomotor (afectando fundamentalmente a las habilidades motoras). También se ha descrito espasticidad grave con hiperreflexia. La hipomielinización cerebral generalizada es una característica de imagen distintiva de esta enfermedad.","Spanish_Disease_Name__c":"encefalopatía epiléptica con desmielinización cerebral global","Spanish_GARD_Synonym__c":"deficiencia del transportador mitocondrial de aspartato-glutamato 1; deficiencia en agc1","Category_Linearization__c":"ORPHA:68367","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":"Epileptic encephalopathy with global cerebral demyelination is a rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.","Curated_Disease_Description_Source__c":"MONDO:0013056","GARD_Synonym__c":"agc1 deficiency; dee39; developmental and epileptic encephalopathy 39; developmental and epileptic encephalopathy 39 with leukodystrophy; early infantile epileptic encephalopathy caused by mutation in slc25a12; eiee39; epileptic encephalopathy with global cerebral demyelination; epileptic encephalopathy, early infantile, 39; mitochondrial aspartate-glutamate carrier 1 deficiency; slc25a12 early infantile epileptic encephalopathy","Name":"Developmental and epileptic encephalopathy, 39","estimateUsa":""}],"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":"Mitochondrial","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Mitochondrial diseases are a group of genetic diseases that affect the ability of the body's cells to make energy.","curated_tag_name":"Mitochondrial 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:353217"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/353217","Source__c":"C2751855; MONDO:0013056","Xref__c":"ORPHA:353217"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2751855","Source__c":"C2751855","Xref__c":"C2751855"},{"URL__c":"https://www.omim.org/entry/612949","Source__c":"C2751855; MONDO:0013056; ORPHA:353217","Xref__c":"OMIM:612949"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080349","Source__c":"MONDO:0013056","Xref__c":"DOID:0080349"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567847","Source__c":"MONDO:0013056","Xref__c":"C567847"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=414492","Source__c":"C2751855","Xref__c":"MEDGEN:414492"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=726702005","Source__c":"MONDO:0013056","Xref__c":"726702005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013056","Source__c":"GARD:0017532","Xref__c":"MONDO:0013056"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SLC25A12","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:612949","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduced frequency or duration of eye contact.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000817","HPO_Synonym__c":"Poor eye contact","HPO_Name__c":"Reduced eye contact","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612949","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":"OMIM:612949","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000189","HPO_Synonym__c":"Decreased palatal width; Decreased transverse dimension of palate; Narrow palate; Narrow roof of mouth","HPO_Name__c":"Narrow palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612949","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Habitual flow of saliva out of the mouth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002307","HPO_Synonym__c":"Dribbling; Drooling; Sialorrhea","HPO_Name__c":"Drooling","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612949","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008936","HPO_Synonym__c":"Low muscle tone in trunk; Muscular hypotonia of the trunk; Truncal hypotonia","HPO_Name__c":"Axial hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612949","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003803","HPO_Synonym__c":"Type I muscle fiber predominance","HPO_Name__c":"Type 1 muscle fiber predominance","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612949","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Head circumference which falls below 2 standard deviations below the mean for age and sex because of insufficient head growth after birth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005484","HPO_Synonym__c":"Acquired microcephaly; Deceleration of head growth; Microcephaly, acquired; Microcephaly, postnatal; Postnatal deceleration of head circumference; Postnatal microcephaly","HPO_Name__c":"Secondary microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612949","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":"OMIM:612949","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007034","HPO_Name__c":"Generalized hyperreflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612949","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000316","HPO_Synonym__c":"Excessive orbital separation; Increased distance between eye sockets; Increased distance between eyes; Increased interpupillary distance; Ocular hypertelorism; Wide-set eyes; Widely spaced eyes; Widened interpupillary distance","HPO_Name__c":"Hypertelorism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612949","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Delayed achievement of the ability to roll front to back and back to front.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032989","HPO_Name__c":"Delayed ability to roll over","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612949","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002373","HPO_Synonym__c":"Febrile convulsion; Febrile seizures; Fever induced seizures; Seizures, febrile, in early childhood; Seizures, generalized, associated with fever","HPO_Name__c":"Febrile seizure (within the age range of 3 months to 6 years)","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612949","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased hair growth over much of the entire body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002230","HPO_Synonym__c":"Excessive hairiness over body","HPO_Name__c":"Generalized hirsutism","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612949","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031936","HPO_Synonym__c":"Delayed walking","HPO_Name__c":"Delayed ability to walk","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612949","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A decrease in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012708","HPO_Synonym__c":"MR Spectroscopy: N-acetylaspartate low in brain; Reduced brain N-acetyl aspartate level by magnetic resonance spectroscopy","HPO_Name__c":"Reduced brain N-acetyl aspartate level by MRS","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Imaging_MRI"}},{"Provided_By__c":"OMIM:612949","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Excessive amount of hair growth on forehead.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011335","HPO_Synonym__c":"Hairy forehead; Hirsute forehead","HPO_Name__c":"Frontal hirsutism","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612949","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Head circumference below 2 standard deviations below the mean for age and sex at birth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011451","HPO_Synonym__c":"Congenital decreased head circumference; Congenital microcephaly; Congenital small skull; Decreased head circumference present at birth; Microcephaly present at birth; Small cranium present at birth","HPO_Name__c":"Primary microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612949","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":"OMIM:612949","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The gradual reduction in girth of the finger from proximal to distal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001182","HPO_Synonym__c":"Distally tapering fingers; Tapered finger; Tapered fingertips; Tapering fingers","HPO_Name__c":"Tapered finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612949","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002104","HPO_Synonym__c":"Absence of spontaneous respiration; Apneic episodes; Apnoea","HPO_Name__c":"Apnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612949","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A severe degree of muscular hypotonia characterized by markedly reduced muscle tone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006829","HPO_Synonym__c":"Hypotonia, severe; Severely decreased muscle tone","HPO_Name__c":"Severe muscular hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612949","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Small expansion of the helical fold at the junction of the superior and descending portions of the helix.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011261","HPO_Synonym__c":"Helix, Darwin tubercle","HPO_Name__c":"Darwin tubercle of helix","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612949","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200134","HPO_Synonym__c":"Convulsive encephalopathy","HPO_Name__c":"Epileptic encephalopathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612949","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A developmental defect resulting in abnormal closure, or atresia of the tubular structure of the jejunum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005235","HPO_Name__c":"Jejunal atresia","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612949","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000389","HPO_Synonym__c":"Chronic infections of the middle ear; Otitis media, chronic","HPO_Name__c":"Chronic otitis media","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612949","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006808","HPO_Synonym__c":"Hypomyelination of the brain","HPO_Name__c":"Cerebral hypomyelination","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612949","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000954","HPO_Synonym__c":"Simian crease; Simian creases; Simian line; Single flexion crease; Single palmar crease; Single palmar creases; Single transverse palmar creases; Transverse palmar crease","HPO_Name__c":"Single transverse palmar crease","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612949","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001252","HPO_Synonym__c":"Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia","HPO_Name__c":"Hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612949","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001336","HPO_Synonym__c":"Myoclonic jerks","HPO_Name__c":"Myoclonus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612949","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The Premie-Neuro and the Dubowitz Neurological Examination score head lag in the same manner. Scoring for both is as follows: 0 = head drops and stays back, 1 = tries to lift head but drops it back, 2 = able to lift head slightly, 3 = lifts head in line with body, and 4 = head in front of body. This term applies if head lag persists beyond an expected age at a level of 0 or 1. Persistent head lag beyond age 4 mo has been linked to poor outcomes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032988","HPO_Synonym__c":"Head lag; Headlag","HPO_Name__c":"Persistent head lag","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612949","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A seizure lasting 30 minutes without fully regaining consciousness, provoked by fever (temperature greater than 38.0 degrees Celcius) at the time of seizure-onset, without a prior history of afebrile seizure and with no evidence of an acute central nervous system infection or insult.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032656","HPO_Synonym__c":"Fever-induced status epilepticus","HPO_Name__c":"Febrile status epilepticus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612949","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A face with a rounded and slightly elongated outline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000300","HPO_Synonym__c":"Oval face; Oval facial shape; Oval facies","HPO_Name__c":"Oval face","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612949","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced convexity of the occiput (posterior part of skull).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005469","HPO_Synonym__c":"Flat posterior cranium; Posterior flattening of the skull","HPO_Name__c":"Flat occiput","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612949","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of excess amniotic fluid in the uterus during pregnancy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001561","HPO_Synonym__c":"High levels of amniotic fluid; Hydramnios","HPO_Name__c":"Polyhydramnios","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612949","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002421","HPO_Synonym__c":"Delay in head control; Delay in head righting; Infant head lag; Poor head control","HPO_Name__c":"Poor head control","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612949","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001257","HPO_Synonym__c":"Involuntary muscle stiffness, contraction, or spasm; Muscle spasticity; Muscular spasticity","HPO_Name__c":"Spasticity","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612949","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001667","HPO_Synonym__c":"Heart right ventricle hypertrophy","HPO_Name__c":"Right ventricular hypertrophy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612949","HPO_Frequency__c":"Frequent (30-79%)","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":"OMIM:612949","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of a high and narrow palate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002705","HPO_Synonym__c":"Gothic palate; High narrow palate; High vaulted palate; High, narrow palate; Narrow and high arched palate; Narrow, high-arched palate; Narrow, high-arched roof of mouth; Narrow, highly arched palate; Narrow, highly arched roof of mouth","HPO_Name__c":"High, narrow palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612949","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003557","HPO_Synonym__c":"Increased fiber size variation; Increased variability in muscle fiber size; Increased variation in fiber size; Increased variation in muscle fiber size; Variation in muscle fiber size","HPO_Name__c":"Increased variability in muscle fiber diameter","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612949","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002151","HPO_Synonym__c":"Increased blood lactate; Increased serum lactate","HPO_Name__c":"Increased circulating lactate concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:612949","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:612949","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A tonic seizure is a type of motor seizure characterized by unilateral or bilateral limb stiffening or elevation, often with neck stiffening.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032792","HPO_Name__c":"Tonic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism","Mitochondrial"],"Specialist":["Genetics","Neurology","Epilepsy","Neurodevelopmental disabilities","Pediatrics"],"Account":["Mitochondrial","Epilepsy"]},"synonyms":["agc1 deficiency"," dee39"," developmental and epileptic encephalopathy 39"," developmental and epileptic encephalopathy 39 with leukodystrophy"," early infantile epileptic encephalopathy caused by mutation in slc25a12"," eiee39"," epileptic encephalopathy with global cerebral demyelination"," epileptic encephalopathy, early infantile, 39"," mitochondrial aspartate-glutamate carrier 1 deficiency"," slc25a12 early infantile epileptic encephalopathy"]}