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Term:
early infantile epileptic encephalopathy 39 (DOID:0080349)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency  
Ataxia and Polyneuropathy, Adult-Onset  
Ataxia Neuropathy Spectrum  
Bjornstad syndrome  
carbamoyl phosphate synthetase I deficiency disease  
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal  
Childhood Myocerebrohepatopathy Spectrum 
coenzyme Q10 deficiency disease +   
combined oxidative phosphorylation deficiency +   
congenital disorder of glycosylation type IIm  
Cowden-Like Syndrome  
cytochrome-c oxidase deficiency disease +   
deafness-dystonia-optic neuronopathy syndrome  
Deoxyguanosine Kinase Deficiency  
Dravet syndrome  
Dysmyelinating Leukodystrophy with Oligodontia 
Dysmyelination with Jaundice 
early infantile epileptic encephalopathy 1  
early infantile epileptic encephalopathy 11  
early infantile epileptic encephalopathy 12  
early infantile epileptic encephalopathy 13  
early infantile epileptic encephalopathy 14  
early infantile epileptic encephalopathy 15  
early infantile epileptic encephalopathy 16  
early infantile epileptic encephalopathy 17  
early infantile epileptic encephalopathy 18  
early infantile epileptic encephalopathy 19  
early infantile epileptic encephalopathy 2  
early infantile epileptic encephalopathy 21  
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early infantile epileptic encephalopathy 25  
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early infantile epileptic encephalopathy 3  
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early infantile epileptic encephalopathy 34  
early infantile epileptic encephalopathy 35  
early infantile epileptic encephalopathy 36  
early infantile epileptic encephalopathy 37  
early infantile epileptic encephalopathy 38  
early infantile epileptic encephalopathy 39  
An early infantile epileptic encephalopathy that has_material_basis_in mutation in the SLC25A12 gene on chromosome 2q31. (DO)
early infantile epileptic encephalopathy 4  
early infantile epileptic encephalopathy 40  
early infantile epileptic encephalopathy 41  
early infantile epileptic encephalopathy 42  
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early infantile epileptic encephalopathy 44  
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early infantile epileptic encephalopathy 47  
early infantile epileptic encephalopathy 48  
early infantile epileptic encephalopathy 49  
early infantile epileptic encephalopathy 5  
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early infantile epileptic encephalopathy 57  
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early infantile epileptic encephalopathy 7  
early infantile epileptic encephalopathy 8  
early infantile epileptic encephalopathy 9  
Early Infantile Epileptic Encephalopathy, 64  
Early Infantile Epileptic Encephalopathy, 67  
Early Infantile Epileptic Encephalopathy, 68  
Early Infantile Epileptic Encephalopathy, 69  
Early Infantile Epileptic Encephalopathy, 70  
Early Infantile Epileptic Encephalopathy, 71  
Early Infantile Epileptic Encephalopathy, 72  
Early Infantile Epileptic Encephalopathy, 73  
Early Infantile Epileptic Encephalopathy, 74  
Early Infantile Epileptic Encephalopathy, 75  
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Early Infantile Epileptic Encephalopathy, 78  
Early Infantile Epileptic Encephalopathy, 79  
Early Infantile Epileptic Encephalopathy, 80  
ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2  
ethylmalonic encephalopathy  
Finnish Lethal Neonatal Metabolic Syndrome  
Friedreich ataxia +   
Hypermetabolism due to Defect in Mitochondria 
hypomyelinating leukodystrophy +   
hypomyelinating leukodystrophy 4  
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity  
hypotonia-cystinuria syndrome  
Krabbe disease +   
Late-Onset Carnitine Palmitoyltransferase II Deficiency  
Leber hereditary optic neuropathy +   
Leigh disease +   
Lethal Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 1  
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation  
Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency 
megalencephalic leukoencephalopathy with subcortical cysts +   
Megalencephaly with Dysmyelination 
metachromatic leukodystrophy +   
microcephaly, seizures, and developmental delay  
Mitochondrial Cardiomyopathy  
mitochondrial complex I deficiency +   
mitochondrial complex II deficiency  
mitochondrial complex III deficiency +   
mitochondrial complex V (ATP synthase) deficiency +   
Mitochondrial Cytopathy +   
mitochondrial DNA depletion syndrome +   
Mitochondrial Phosphate Carrier Deficiency  
mitochondrial pyruvate carrier deficiency  
multiple acyl-CoA dehydrogenase deficiency +   
multiple congenital anomalies-hypotonia-seizures syndrome 2  
multiple mitochondrial dysfunctions syndrome +   
Myopathy with Giant Abnormal Mitochondria 
Myopathy, Cataract, Hypogonadism Syndrome 
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION  
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination  
Noninsulin-Dependent Diabetes Mellitus with Deafness  
Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria 
Optic Atrophy with Demyelinating Disease of CNS 
Optic Atrophy, Autosomal Dominant  
Parkinson's Disease, Mitochondrial  
Pearson syndrome  
Progressive External Ophthalmoplegia with Hypogonadism 
Proximal Myopathy with Focal Depletion of Mitochondria 
pyruvate carboxylase deficiency disease +   
pyruvate decarboxylase deficiency +   
Retinal Vasculopathy with Cerebral Leukodystrophy  
Sarcosinemia  
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis  
Spinocerebellar Ataxia with Epilepsy  
Succinate-Coa Ligase Deficiency +   
VDAC Deficiency 
very long chain acyl-CoA dehydrogenase deficiency  
Wolfram syndrome 2  

Synonyms
Exact Synonyms: AGC1 deficiency ;   EIEE39 ;   aspartate-glutamate carrier 1 deficiency ;   epileptic encephalopathy with global cerebral demyelination ;   global cerebral hypomyelination ;   mitochondrial aspartate-glutamate carrier 1 deficiency
Primary IDs: MESH:C567847
Alternate IDs: DOID:9006574 ;   OMIM:612949 ;   RDO:0015758
Xrefs: ORDO:353217
Definition Sources: https://www.omim.org/entry/612949?search=612949

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