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Term:
Spinocerebellar Ataxia with Epilepsy (DOID:9006476)
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  
adult-onset ataxia and polyneuropathy  
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency  
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan 
Arthrogryposis Epileptic Seizures Migrational Brain Disorder 
autosomal dominant mental retardation 20  
Autosomal Dominant Mental Retardation 60  
autosomal recessive spinocerebellar ataxia 12  
Baraitser-Winter syndrome +   
Battaglia Neri Syndrome 
benign neonatal seizures +   
Beta-Amino Acids, Renal Transport of 
Bjornstad syndrome  
Borjeson-Forssman-Lehmann syndrome  
Boucher-Neuhauser syndrome  
Boudhina Yedes Khiari syndrome 
branched-chain keto acid dehydrogenase kinase deficiency  
carbamoyl phosphate synthetase I deficiency disease  
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal  
cerebellar ataxia +   
Cerebellar Atrophy with Seizures and Variable Developmental Delay  
Childhood Myocerebrohepatopathy Spectrum 
Christianson syndrome  
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB 
coenzyme Q10 deficiency disease +   
Coffin Syndrome 1 
combined oxidative phosphorylation deficiency +   
Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies  
Cowden-Like Syndrome  
cytochrome-c oxidase deficiency disease +   
deafness-dystonia-optic neuronopathy syndrome  
Deoxyguanosine Kinase Deficiency  
Developmental Delay, Epilepsy, and Neonatal Diabetes  
Drug Resistant Epilepsy +   
early infantile epileptic encephalopathy 39  
early-onset vitamin B6-dependent epilepsy  
electroclinical syndrome +   
encephalopathy due to defective mitochondrial and peroxisomal fission 1  
ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2  
Epilepsy Telangiectasia 
EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY  
Epilepsy, Hearing Loss, and Mental Retardation Syndrome  
Epilepsy, Occipital Calcifications 
Epilepsy, Post-Traumatic 
ethylmalonic encephalopathy  
extratemporal epilepsy 
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome  
Febrile Seizures +   
Focal Cortical Dysplasia of Taylor +   
focal epilepsy +   
Friedreich ataxia +   
Gemignani Syndrome 
Generalized Epilepsy +   
Glycosylphosphatidylinositol Deficiency +   
GRACILE syndrome  
Gurrieri Sammito Bellussi Syndrome 
Hot Water Epilepsy +  
Hypermetabolism due to Defect in Mitochondria 
hypomyelinating leukodystrophy 4  
hypotonia-cystinuria syndrome  
Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures  
Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA  
Intellectual Developmental Disorder with Seizures and Language Delay  
Kifafa Seizure Disorder 
Kohlschutter-Tonz syndrome  
Landau-Kleffner syndrome  
Late-Onset Carnitine Palmitoyltransferase II Deficiency  
Leber hereditary optic neuropathy +   
Leigh disease +   
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation  
Machado-Joseph disease  
Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency 
MEHMO syndrome  
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
Microcephaly, Epilepsy, and Diabetes Syndrome  
Microcephaly, Growth Deficiency, Seizures, and Brain Malformations  
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 mitochondrial dysfunctions syndrome +   
Myoclonic Epilepsies +   
Myopathy with Giant Abnormal Mitochondria 
Myopathy, Cataract, Hypogonadism Syndrome 
Myopathy, Epilepsy, and Progressive Cerebral Atrophy  
NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY  
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM  
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination  
Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy  
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination  
NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES  
Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures  
Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements  
Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment  
NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES  
Noninsulin-Dependent Diabetes Mellitus with Deafness  
Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria 
optic atrophy 1  
PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES  
Parkinson's Disease, Mitochondrial  
Pearson syndrome  
Photogenic Epilepsy with Spastic Diplegia and Mental Retardation 
Pitt-Hopkins syndrome +   
POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME  
Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy  
Progressive External Ophthalmoplegia with Hypogonadism 
Proximal Myopathy with Focal Depletion of Mitochondria 
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism  
pyridoxamine 5'-phosphate oxidase deficiency  
pyridoxine-dependent epilepsy  
pyruvate carboxylase deficiency disease +   
pyruvate decarboxylase deficiency +   
Ramon Syndrome 
Retinal Degeneration and Epilepsy 
Rud Syndrome 
salt and pepper syndrome  
Sandhaus Ben-Ami Syndrome 
Sarcosinemia  
SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS  
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME  
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis  
spastic ataxia +   
Spinocerebellar Ataxia and Plaque-Like Deposits 
Spinocerebellar Ataxia with Dysmorphism 
Spinocerebellar Ataxia with Epilepsy  
Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy 
status epilepticus +   
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures  
Succinate-Coa Ligase Deficiency +   
syndromic X-linked intellectual disability Hedera type  
VDAC Deficiency 
very long chain acyl-CoA dehydrogenase deficiency  
visual epilepsy +   
Webb-Dattani Syndrome  
Wittwer Syndrome  
Wolfram syndrome 2  
X-Linked Epilepsy, with Variable Learning Disabilities and Behavior Disorders  
X-linked sideroblastic anemia with ataxia  
X-linked spinocerebellar ataxia 1  
X-linked spinocerebellar ataxia 2 
X-linked spinocerebellar ataxia 3 
X-linked spinocerebellar ataxia 4 
X-linked spinocerebellar ataxia 5 

Synonyms
Exact Synonyms: Myoclonic Epilepsy Myopathy Sensory Ataxia
Primary IDs: MESH:C564395 ;   RDO:0013375

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