{"Name":"Developmental and epileptic encephalopathy, 17","DiseaseID__c":"GARD:0013378","id":13378,"encodedName":"developmental-and-epileptic-encephalopathy-17","IsDeleted":false,"Disease_Name_Full__c":"Developmental and epileptic encephalopathy, 17","Xref_IDs__c":"C3809606; DOID:0080450; MEDGEN:815936; MONDO:0014199; OMIM:615473","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0014199","Disease_Description__c":"Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GNAO1 gene.","GARD_Name__c":"Developmental and epileptic encephalopathy, 17","GARD_Synonym__c":"dee17; developmental and epileptic encephalopathy 17; early infantile epileptic encephalopathy 17; early infantile epileptic encephalopathy caused by mutation in gnao1; early infantile epileptic encephalopathy-17; eiee17; epileptic encephalopathy, early infantile, 17; epileptic encephalopathy, early infantile, type 17; gnao1 early infantile epileptic encephalopathy","Curated_Disease_Description_Source__c":"GARD:0013378","Curated_Disease_Description__c":"Developmental and epileptic encephalopathy 17 (also known as GNAO1 encephalopathy) is a rare neurologic disorder that causes developmental delay, early infantile seizures, and abnormal movements. Specific symptoms may include seizures that start early in childhood, severe intellectual disability, poor muscle tone (hypotonia), irregular muscle contractions (chorea), and involuntary movements of the face and tongue (dyskinesia). The severity of symptoms can vary. Symptoms may be triggered by strong emotions, illness, and purposeful movements. Developmental and epileptic encephalopathy 17 is caused by genetic changes in the GNAO1 gene and inheritance is autosomal dominant.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:615473","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014199","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Developmental and epileptic encephalopathy 17 (also known as GNAO1 encephalopathy) is a rare neurologic disorder that causes developmental delay, early infantile seizures, and abnormal movements. Specific symptoms may include seizures that start early in childhood, severe intellectual disability, poor muscle tone (hypotonia), irregular muscle contractions (chorea), and involuntary movements of the face and tongue (dyskinesia). The severity of symptoms can vary. Symptoms may be triggered by strong emotions, illness, and purposeful movements. Developmental and epileptic encephalopathy 17 is caused by genetic changes in the GNAO1 gene and inheritance is autosomal dominant.","Curated_Disease_Description_Source__c":"GARD:0013378","GARD_Synonym__c":"dee17; developmental and epileptic encephalopathy 17; early infantile epileptic encephalopathy 17; early infantile epileptic encephalopathy caused by mutation in gnao1; early infantile epileptic encephalopathy-17; eiee17; epileptic encephalopathy, early infantile, 17; epileptic encephalopathy, early infantile, type 17; gnao1 early infantile epileptic encephalopathy","Name":"Developmental and epileptic encephalopathy, 17","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The Bow Foundation","Website__c":"https://gnao1.org/"},{"Account_Name__c":"Aaron's Ohtahara","Website__c":"https://sites.google.com/a/ohtahara.org/ohtahara2/"}],"GARD_Disease_Tag__c":[{"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"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C3809606"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0013378","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK597155","Source__c":"Gene Review","Xref__c":"NBK597155"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080450","Source__c":"MONDO:0014199","Xref__c":"DOID:0080450"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=815936","Source__c":"C3809606","Xref__c":"MEDGEN:815936"},{"URL__c":"https://www.omim.org/entry/615473","Source__c":"C3809606; MONDO:0014199","Xref__c":"OMIM:615473"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3809606","Source__c":"C3809606","Xref__c":"C3809606"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014199","Source__c":"GARD:0013378","Xref__c":"MONDO:0014199"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GNAO1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:615473","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":"OMIM:615473","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:615473","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of focal motor seizure characterized by sustained increase in muscle contraction, lasting a few seconds to minutes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011167","HPO_Synonym__c":"Focal tonic seizures; Local tonic seizures; Localised tonic seizure; Localized tonic seizure; Partial tonic seizure; Partial tonic seizures; Segmental tonic seizure","HPO_Name__c":"Focal tonic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615473","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002305","HPO_Synonym__c":"Athetoid movements; Involuntary writhing movements; Involuntary writhing movements in fingers, hands, toes, and feet","HPO_Name__c":"Athetosis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615473","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":"OMIM:615473","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002059","HPO_Synonym__c":"Degeneration of cerebrum","HPO_Name__c":"Cerebral atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615473","HPO_Frequency__c":"Frequent (30-79%)","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":"OMIM:615473","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A generalized tonic seizure is a type of generalized motor seizure characterized by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010818","HPO_Synonym__c":"Generalised hypertonic seizure; Generalized hypertonic seizure; Generalized tonic seizures","HPO_Name__c":"Generalized tonic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615473","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002072","HPO_Synonym__c":"Choreic movements; Choreiform movements","HPO_Name__c":"Chorea","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615473","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:615473","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:615473","HPO_Frequency__c":"Frequent (30-79%)","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":"OMIM:615473","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001332","HPO_Synonym__c":"Dystonic movements","HPO_Name__c":"Dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615473","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Account":["Epilepsy"],"Specialist":["Epilepsy","Neurodevelopmental disabilities"]},"synonyms":["dee17"," developmental and epileptic encephalopathy 17"," early infantile epileptic encephalopathy 17"," early infantile epileptic encephalopathy caused by mutation in gnao1"," early infantile epileptic encephalopathy-17"," eiee17"," epileptic encephalopathy, early infantile, 17"," epileptic encephalopathy, early infantile, type 17"," gnao1 early infantile epileptic encephalopathy"]}