{"Name":"Developmental and epileptic encephalopathy, 8","DiseaseID__c":"GARD:0017010","id":17010,"encodedName":"developmental-and-epileptic-encephalopathy-8","IsDeleted":false,"Disease_Name_Full__c":"Developmental and epileptic encephalopathy, 8","Xref_IDs__c":"C1845102; C564474; DOID:0080215; MEDGEN:375581; MONDO:0010375; OMIM:300607; ORPHA:163985","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:163985","Disease_Description__c":"A rare, X-linked, syndromic intellectual disability disease characterized by neonatal hypertonia which evolves to hypotonia and an exaggerated startle response (to sudden visual, auditory or tactile stimuli), followed by the development of early-onset, frequently refractory, tonic or myoclonic seizures. Progressive epileptic encephalopathy, intellectual disability, and psychomotor development arrest, with subsequent decline, may be additionally associated.","GARD_Name__c":"Developmental and epileptic encephalopathy, 8","GARD_Synonym__c":"arhgef9-related hyperekplexia; dee8; developmental and epileptic encephalopathy 8; early infantile epileptic encephalopathy 8; eiee8; epileptic encephalopathy, early infantile, 8; epileptic encephalopathy, early infantile, type 8; hyperekplexia and epilepsy; hyperekplexia-epilepsy syndrome","Curated_Disease_Description_Source__c":"ORPHA:163985","Curated_Disease_Description__c":"A rare, X-linked, syndromic intellectual disability disease characterized by neonatal hypertonia which evolves to hypotonia and an exaggerated startle response (to sudden visual, auditory or tactile stimuli), followed by the development of early-onset, frequently refractory, tonic or myoclonic seizures. Progressive epileptic encephalopathy, intellectual disability, and psychomotor development arrest, with subsequent decline, may be additionally associated.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:163985","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010375","ORPHANET_ID__c":"ORPHA:163985","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hiperekplexia-epilepsia","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de hiperekplexia-epilepsia","Spanish_GARD_Synonym__c":"síndrome de hiperecplexia-epilepsia; síndrome de hiperplexia-epilepsia","Category_Linearization__c":"ORPHA:93890","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":"A rare, X-linked, syndromic intellectual disability disease characterized by neonatal hypertonia which evolves to hypotonia and an exaggerated startle response (to sudden visual, auditory or tactile stimuli), followed by the development of early-onset, frequently refractory, tonic or myoclonic seizures. Progressive epileptic encephalopathy, intellectual disability, and psychomotor development arrest, with subsequent decline, may be additionally associated.","Curated_Disease_Description_Source__c":"ORPHA:163985","GARD_Synonym__c":"arhgef9-related hyperekplexia; dee8; developmental and epileptic encephalopathy 8; early infantile epileptic encephalopathy 8; eiee8; epileptic encephalopathy, early infantile, 8; epileptic encephalopathy, early infantile, type 8; hyperekplexia and epilepsy; hyperekplexia-epilepsy syndrome","Name":"Developmental and epileptic encephalopathy, 8","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Simons Searchlight","Website__c":"https://www.simonssearchlight.org/"}],"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":"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:163985"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080215","Source__c":"MONDO:0010375","Xref__c":"DOID:0080215"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1845102","Source__c":"C1845102","Xref__c":"C1845102"},{"URL__c":"https://www.orpha.net/en/disease/detail/163985","Source__c":"C1845102; MONDO:0010375","Xref__c":"ORPHA:163985"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564474","Source__c":"MONDO:0010375","Xref__c":"C564474"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=375581","Source__c":"C1845102","Xref__c":"MEDGEN:375581"},{"URL__c":"https://www.omim.org/entry/300607","Source__c":"C1845102; MONDO:0010375; ORPHA:163985","Xref__c":"OMIM:300607"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010375","Source__c":"GARD:0017010","Xref__c":"MONDO:0010375"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ARHGEF9","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:163985","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":"ORPHA:163985","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002384","HPO_Synonym__c":"Complex focal seizures; Complex partial seizure; Complex partial seizures; Dyscognitive seizures; Focal dyscognitive seizure; Focal impaired awareness seizures; Focal seizure with impairment of awareness; Focal seizure with loss of awareness; Focal seizures with impairment of consciousness or awareness; Localised dyscognitive seizure; Localised seizure with impaired awareness; Localised seizure with loss of awareness; Localized dyscognitive seizure; Localized seizure with impaired awareness; Localized seizure with loss of awareness; Partial dyscognitive seizure; Partial seizure with impairment of awareness; Partial seizure with loss of awareness","HPO_Name__c":"Focal impaired awareness seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:163985","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:163985","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001276","HPO_Synonym__c":"Hypertonicity; Increased muscle tone","HPO_Name__c":"Hypertonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:163985","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the frontal lobe of the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007333","HPO_Synonym__c":"Frontal lobe hypoplasia; Hypoplastic frontal lobes; Underdeveloped frontal lobe","HPO_Name__c":"Hypoplasia of the frontal lobes","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:163985","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"EEG with focal sharp transient waves of a duration less than 80 msec in the temporal region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012018","HPO_Name__c":"EEG with temporal focal spikes","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:163985","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002267","HPO_Synonym__c":"Exaggerated acoustic startle response; Increased startle response","HPO_Name__c":"Exaggerated startle response","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:163985","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Loss of developmental skills, as manifested by loss of developmental milestones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002376","HPO_Synonym__c":"Loss of acquired milestones; Loss of developmental milestones; Loss of milestones; Mental deterioration in childhood; Neurodevelopmental regression; Psychomotor regression; Psychomotor regression beginning in infancy; Psychomotor regression in infants; Psychomotor regression, progressive","HPO_Name__c":"Developmental regression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:163985","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000243","HPO_Synonym__c":"Triangular cranium shape; Triangular skull shape; Wedge shaped cranium; Wedge shaped skull","HPO_Name__c":"Trigonocephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Epilepsy","Neurodevelopmental disabilities","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["arhgef9-related hyperekplexia"," dee8"," developmental and epileptic encephalopathy 8"," early infantile epileptic encephalopathy 8"," eiee8"," epileptic encephalopathy, early infantile, 8"," epileptic encephalopathy, early infantile, type 8"," hyperekplexia and epilepsy"," hyperekplexia-epilepsy syndrome"]}