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Ontology Browser

Term:
SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS (DOID:9006016)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
epilepsy +     
aceruloplasminemia  
agenesis of the corpus callosum with peripheral neuropathy  
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency  
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan 
Arthrogryposis Epileptic Seizures Migrational Brain Disorder 
autoimmune epilepsy 
autosomal dominant mental retardation 20  
Autosomal Dominant Mental Retardation 60  
autosomal recessive spinocerebellar ataxia 12  
Baraitser-Winter syndrome +   
Battaglia Neri Syndrome 
Beta-Amino Acids, Renal Transport of 
Borjeson-Forssman-Lehmann syndrome  
Boudhina Yedes Khiari syndrome 
BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS  
branched-chain keto acid dehydrogenase kinase deficiency  
Cerebellar Atrophy with Seizures and Variable Developmental Delay  
Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy  
Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline  
Childhood-Onset Neurodegeneration with Brain Atrophy  
Childhood-Onset Neurodegeneration with Cerebellar Atrophy  
Christianson syndrome  
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB 
Chronic Traumatic Encephalopathy 
Coffin Syndrome 1 
Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies  
demyelinating disease +   
Developmental Delay, Epilepsy, and Neonatal Diabetes  
Drug Resistant Epilepsy +   
early-onset vitamin B6-dependent epilepsy  
electroclinical syndrome +   
Epilepsy Telangiectasia 
EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY  
Epilepsy, Hearing Loss, and Mental Retardation Syndrome  
Epilepsy, Occipital Calcifications 
Epilepsy, Post-Traumatic 
extratemporal epilepsy 
eye degenerative disease +   
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome  
Febrile Seizures +   
Feigenbaum Bergeron Richardson Syndrome 
FINCA Syndrome  
Focal Cortical Dysplasia of Taylor +   
focal epilepsy +   
Generalized Epilepsy +   
Glycosylphosphatidylinositol Deficiency +   
Gurrieri Sammito Bellussi Syndrome 
Halperin-Birk Syndrome  
hereditary ataxia +   
Hot Water Epilepsy +  
Huntington's disease-like 2  
Idiopathic Basal Ganglia Calcification 1  
Idiopathic Basal Ganglia Calcification 6  
Idiopathic Basal Ganglia Calcification 7  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES  
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 
KINSSHIP SYNDROME  
Kohlschutter-Tonz syndrome  
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME  
MEHMO syndrome  
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
Microcephaly, Epilepsy, and Diabetes Syndrome +   
Microcephaly, Growth Deficiency, Seizures, and Brain Malformations  
motor neuron disease +   
multiple system atrophy +   
myoclonic cerebellar dyssynergia +  
Myoclonic Epilepsies +   
Myopathy, Epilepsy, and Progressive Cerebral Atrophy  
Nervous System Heredodegenerative Disorders +   
Nervous System Paraneoplastic Syndromes +   
Neurodegeneration with Ataxia and Late-Onset Optic Atrophy  
neurodegeneration with brain iron accumulation +   
NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA  
NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE  
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 Dysmorphic Facies and Variable 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 MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY  
NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY  
Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures  
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY  
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH  
Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements  
Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment  
NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES  
Neuronal Intranuclear Inclusion Disease  
olivopontocerebellar atrophy +   
ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME  
PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES  
PEHO syndrome  
Photogenic Epilepsy with Spastic Diplegia and Mental Retardation 
Pitt-Hopkins syndrome +   
plexopathy 
POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME  
Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy  
pontocerebellar hypoplasia +   
postpoliomyelitis syndrome 
primary cerebellar degeneration +   
prion disease +   
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy  
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism  
pyridoxamine 5'-phosphate oxidase deficiency  
pyridoxine-dependent epilepsy  
Radiation Sensitivity Chromosome Instability Syndrome, Autosomal Dominant 
Ramon Syndrome 
Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression  
Retinal Degeneration and Epilepsy 
Rud Syndrome 
salt and pepper syndrome  
Sandhaus Ben-Ami Syndrome 
secondary Parkinson disease +   
SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS  
An autosomal recessive encephalopathy characterized by onset of refractory seizures in the first year of life. Affected individuals show significant and progressive developmental regression associated with seizure onset. Features include hypotonia, peripheral spasticity, poor eye contact, and absent speech. Brain imaging shows cerebral atrophy, loss of white matter, and punctate calcification.
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME  
Spastic Pseudosclerosis 
Spinocerebellar Ataxia with Epilepsy  
status epilepticus +   
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures  
Subacute Combined Degeneration  
syndromic X-linked intellectual disability Hedera type  
synucleinopathy +   
tauopathy +   
TDP-43 Proteinopathies +   
visual epilepsy +   
Webb-Dattani Syndrome  
Wittwer Syndrome  
X-linked epilepsy with variable learning disabilities and behavior disorders  

Synonyms
Exact Synonyms: SENERAC ;   early-onset seizures with neurodegeneration and brain calcifications
Primary IDs: OMIM:618875
Definition Sources: OMIM:618875

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