{"Name":"Developmental and epileptic encephalopathy, 9","DiseaseID__c":"GARD:0010806","id":10806,"encodedName":"developmental-and-epileptic-encephalopathy-9","IsDeleted":false,"Disease_Name_Full__c":"Developmental and epileptic encephalopathy, 9","Xref_IDs__c":"C1848137; C201590; C564715; DOID:0060848; MEDGEN:338393; MONDO:0010246; OMIM:300088","USA_Estimate__c":"1,000","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":"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":6,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0010246","Disease_Description__c":"Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.","GARD_Name__c":"Developmental and epileptic encephalopathy, 9","GARD_Synonym__c":"dee9; developmental and epileptic encephalopathy 9; early infantile epileptic encephalopathy 9; early infantile epileptic encephalopathy caused by mutation in pcdh19; early infantile epileptic encephalopathy type 9; early infantile female-limited epilecptic encephalopathy; efmr; eiee9; epileptic encephalopathy, early infantile, 9; epileptic encephalopathy, early infantile, type 9; familial epilepsy and intellectual disability limited to females; female restricted epilepsy with intellectual disability; female restricted epilepsy with intellectual disability syndrome; juberg hellman syndrome; juberg-hellman syndrome; pcdh19 clustering epilepsy; pcdh19 early infantile epileptic encephalopathy; pcdh19-ce - protocadherin 19 clustering epilepsy; pcdh19-related x-linked female-limited epilepsy with mental retardation; protocadherin 19 clustering epilepsy","Curated_Disease_Description_Source__c":"MONDO:0010246","Curated_Disease_Description__c":"Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:101039","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010246","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":"ORPHA:101039","Spanish_Description__c":"La epilepsia con discapacidad intelectual restringida a mujeres es un síndrome epiléptico poco frecuente ligado al X caracterizado por convulsiones febriles o afebriles (fundamentalmente tónico-clónicas, aunque también de ausencias, mioclónicas y atónicas) que se presenta en los primeros años de vida, en la mayoría de casos, acompañadas de retraso del desarrollo y discapacidad intelectual de gravedad variable. Con frecuencia, también se asocian trastornos de la conducta (tales como rasgos autistas, hiperactividad y agresividad). Esta enfermedad afecta exclusivamente a las mujeres, no estando afectados los varones portadores a pesar del modo de herencia ligado al X.","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":"Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.","Curated_Disease_Description_Source__c":"MONDO:0010246","GARD_Synonym__c":"dee9; developmental and epileptic encephalopathy 9; early infantile epileptic encephalopathy 9; early infantile epileptic encephalopathy caused by mutation in pcdh19; early infantile epileptic encephalopathy type 9; early infantile female-limited epilecptic encephalopathy; efmr; eiee9; epileptic encephalopathy, early infantile, 9; epileptic encephalopathy, early infantile, type 9; familial epilepsy and intellectual disability limited to females; female restricted epilepsy with intellectual disability; female restricted epilepsy with intellectual disability syndrome; juberg hellman syndrome; juberg-hellman syndrome; pcdh19 clustering epilepsy; pcdh19 early infantile epileptic encephalopathy; pcdh19-ce - protocadherin 19 clustering epilepsy; pcdh19-related x-linked female-limited epilepsy with mental retardation; protocadherin 19 clustering epilepsy","Name":"Developmental and epileptic encephalopathy, 9","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Epilepsy Foundation","Website__c":"https://www.epilepsy.com/"},{"Account_Name__c":"Together for the research on PCDH19 (Italy)","Website__c":"http://www.pcdh19research.org/ENG/index_ENG.html"},{"Account_Name__c":"PCDH19 Alliance","Website__c":"https://www.pcdh19info.org/"},{"Account_Name__c":"The Cute Syndrome Foundation","Website__c":"https://www.thecutesyndrome.com/"},{"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:C1848137"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010806","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060848","Source__c":"MONDO:0010246","Xref__c":"DOID:0060848"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1848137","Source__c":"C1848137","Xref__c":"C1848137"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564715","Source__c":"MONDO:0010246","Xref__c":"C564715"},{"URL__c":"https://www.omim.org/entry/300088","Source__c":"C1848137; MONDO:0010246","Xref__c":"OMIM:300088"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=338393","Source__c":"C1848137","Xref__c":"MEDGEN:338393"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010246","Source__c":"GARD:0010806","Xref__c":"MONDO:0010246"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C201590","Source__c":"C1848137","Xref__c":"C201590"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=716706009","Source__c":"C1848137","Xref__c":"716706009"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PCDH19","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:300088","HPO_Frequency__c":"Frequent (30-79%)","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":"OMIM:300088","Feature__r":{"HPO_Description__c":"A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002069","HPO_Synonym__c":"Bilateral convulsive seizures; Generalised tonic-clonic seizure (without specification of onset); Generalized convulsion; Generalized tonic-clonic seizure (without specification of onset); Grand mal; Grand mal seizures; Seizures, tonic-clonic; Tonic-clonic convulsion; Tonic-clonic convulsions","HPO_Name__c":"Bilateral tonic-clonic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300088","Feature__r":{"HPO_Description__c":"A condition characterized by changes in personality and thought patterns, often accompanied by hallucinations and delusional beliefs, is known as psychosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000709","HPO_Synonym__c":"Psychosis","HPO_Name__c":"Psychosis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300088","HPO_Frequency__c":"Frequent (30-79%)","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":"OMIM:300088","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Moderate intellectual disability (ID) is defined as a type of ID characterized by moderately sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 35-49.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002342","HPO_Synonym__c":"Intellectual disability, moderate; IQ between 34 and 49; Mental retardation, moderate; Moderate mental deficiency; Moderate mental retardation","HPO_Name__c":"Moderate intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300088","HPO_Frequency__c":"Frequent (30-79%)","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:300088","Feature__r":{"HPO_Description__c":"A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles 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:0002123","HPO_Synonym__c":"Generalised epileptic myoclonus; Generalised myoclonic seizure; Generalized epileptic myoclonus; Generalized myoclonic seizures; Myoclonus seizures","HPO_Name__c":"Generalized myoclonic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300088","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":"OMIM:300088","Feature__r":{"HPO_Description__c":"Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000718","HPO_Synonym__c":"Aggression; Aggressive behavior; Aggressiveness","HPO_Name__c":"Aggressive behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300088","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000729","HPO_Synonym__c":"ASD; Pervasive developmental disorder","HPO_Name__c":"Autistic behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300088","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:300088","Feature__r":{"HPO_Description__c":"A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002121","HPO_Synonym__c":"Absence seizure; Absence seizures; Brief seizures with staring spells; Petit mal; Petit mal seizure; Petit mal seizures","HPO_Name__c":"Generalized non-motor (absence) seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300088","HPO_Frequency__c":"Frequent (30-79%)","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":"OMIM:300088","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007018","HPO_Synonym__c":"ADHD; Attention deficit; Attention deficit disorder; Attention deficit-hyperactivity disorder; Attention deficits; Childhood attention deficit/hyperactivity disorder","HPO_Name__c":"Attention deficit hyperactivity disorder","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300088","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":"OMIM:300088","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A seizure characterized by a sensation in the head such as light-headedness or headache as its first clinical manifestation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032810","HPO_Synonym__c":"Cephalic aura; Focal seizure with cephalic sensation; Partial seizure with cephalic sensation","HPO_Name__c":"Focal sensory seizure with cephalic sensation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300088","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of status epilepticus characterized by a prolonged bilateral tonic-clonic seizure, or repeated bilateral tonic-clonic seizures without recovery between.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032660","HPO_Synonym__c":"Tonic-clonic status epilepticus","HPO_Name__c":"Convulsive status epilepticus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300088","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterized by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025190","HPO_Synonym__c":"Generalised tonic-clonic seizure without focal onset; Generalised tonic-clonic seizure without partial onset; Generalised tonic-clonic seizures without focal onset; Generalised-onset tonic-clonic seizure; Generalized tonic-clonic seizure without focal onset; Generalized tonic-clonic seizure without partial onset; Generalized tonic-clonic seizures without focal onset; Generalized-onset tonic-clonic seizure; Primarily generalized tonic-clonic seizures; Primary generalized tonic-clonic seizure; Primary generalized tonic-clonic seizures","HPO_Name__c":"Bilateral tonic-clonic seizure with generalized onset","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300088","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of focal clonic seizure characterized by sustained rhythmic jerking rapidly involves one side of the body at seizure onset.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006813","HPO_Synonym__c":"Hemiclonic seizure; Hemiclonic seizures; Unilateral clonic seizure; Unilateral clonic seizures","HPO_Name__c":"Focal hemiclonic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Account":["Epilepsy"],"Specialist":["Epilepsy","Neurodevelopmental disabilities"]},"synonyms":["dee9"," developmental and epileptic encephalopathy 9"," early infantile epileptic encephalopathy 9"," early infantile epileptic encephalopathy caused by mutation in pcdh19"," early infantile epileptic encephalopathy type 9"," early infantile female-limited epilecptic encephalopathy"," efmr"," eiee9"," epileptic encephalopathy, early infantile, 9"," epileptic encephalopathy, early infantile, type 9"," familial epilepsy and intellectual disability limited to females"," female restricted epilepsy with intellectual disability"," female restricted epilepsy with intellectual disability syndrome"," juberg hellman syndrome"," juberg-hellman syndrome"," pcdh19 clustering epilepsy"," pcdh19 early infantile epileptic encephalopathy"," pcdh19-ce - protocadherin 19 clustering epilepsy"," pcdh19-related x-linked female-limited epilepsy with mental retardation"," protocadherin 19 clustering epilepsy"]}