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Term:
childhood onset epileptic encephalopathy (DOID:0060475)
Annotations: Rat: (186) Mouse: (190) Human: (205) Chinchilla: (183) Bonobo: (186) Dog: (184) Squirrel: (182) Pig: (186)
Parent Terms Term With Siblings Child Terms
Adams Nance Syndrome 
Alcohol Withdrawal Seizures  
Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 
Arthrogryposis, Mental Retardation, and Seizures  
autosomal dominant non-syndromic intellectual disability 6  
Baraitser Rodeck Garner syndrome 
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES  
Cerebroretinal Microangiopathy with Calcifications and Cysts +   
childhood onset epileptic encephalopathy +   
An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability. (DO)
chromosome 15q13.3 microdeletion syndrome  
Copper Deficiency, Familial Benign 
Craniosynostosis 2  
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly  
developmental delay and seizures with or without movement abnormalities  
Dyskinesias, Seizures, and Intellectual Developmental Disorder  
Dysmyelination with Jaundice 
EAST syndrome  
Experimental Seizures  
Familial Convulsive Disorder with Prenatal or Early Onset 
Familial Infantile Convulsions and Paroxysmal Choreoathetosis  
generalized epilepsy with febrile seizures plus +   
Hyper-Beta-Alaninemia 
Hyperglycinemia, Lactic Acidosis, and Seizures  
Hyperleucine-Isoleucinemia 
hypermethioninemia due to adenosine kinase deficiency  
Hyperphosphatemia, Polyuria, and Seizures 
Hypomagnesemia, Seizures, and Mental Retardation +   
hypoparathyroidism-retardation-dysmorphism syndrome  
Hypotonia, Seizures, and Precocious Puberty 
idiopathic generalized epilepsy 10  
idiopathic generalized epilepsy 11  
idiopathic generalized epilepsy 12  
idiopathic generalized epilepsy 13  
idiopathic generalized epilepsy 14  
idiopathic generalized epilepsy 15  
Idiopathic Generalized Epilepsy 16  
idiopathic generalized epilepsy 2 
idiopathic generalized epilepsy 3 
idiopathic generalized epilepsy 4 
idiopathic generalized epilepsy 5 
idiopathic generalized epilepsy 7  
idiopathic generalized epilepsy 8  
idiopathic generalized epilepsy 9  
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES  
Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block 
Methionine Malabsorption Syndrome 
Microcephaly Seizures Genital Hypoplasia 
Microcephaly Seizures Mental Retardation Heart Disorders 
Microcephaly Sparse Hair Mental Retardation Seizures 
microcephaly, seizures, and developmental delay  
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES  
Muller Barth Menger Syndrome 
multiple congenital anomalies-hypotonia-seizures syndrome +   
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE  
Occipital Cortical Malformations  
Optic Atrophy 10 with or without Ataxia, Mental Retardation, and Seizures  
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 
Partington syndrome  
Perniola Krajewska Carnevale Syndrome 
PHGDH deficiency  
Primary Aldosteronism, Seizures, and Neurologic Abnormalities  
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy  
PSAT deficiency  
Qazi Markouizos syndrome 
Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal  
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME  
SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES  
Smith-Kingsmore Syndrome  
syndromic X-linked intellectual disability 5  
Tranebjaerg Svejgaard syndrome 
White-Sutton syndrome  
X-Linked Mental Retardation Gustavson Type 

Synonyms
Exact Synonyms: CHD2-RELATED DISORDER ;   EEOC ;   ELS ;   Early onset epileptic encephalopathy ;   early life seizures
Narrow Synonyms: UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY
Primary IDs: OMIM:615369 ;   RDO:9000921
Definition Sources: http://omim.org/entry/615369, https://www.ncbi.nlm.nih.gov/pubmed/23708187, https://www.ncbi.nlm.nih.gov/pubmed/24207121

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.