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Ontology Browser

Term:
NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES (DOID:9009250)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Ataxia +     
epilepsy +     
Abetalipoproteinemia Neuropathy 
aceruloplasminemia  
agenesis of the corpus callosum with peripheral neuropathy  
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency  
Alopecia Epilepsy Oligophrenia Syndrome of Moynahan 
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
Arthrogryposis Epileptic Seizures Migrational Brain Disorder 
Arts syndrome  
Ataxia and Polyneuropathy, Adult-Onset  
Ataxia with Fasciculations 
Ataxia with Myoclonic Epilepsy and Presenile Dementia 
ataxia with oculomotor apraxia type 3  
Ataxia, Deafness, and Cardiomyopathy 
ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS  
Ataxia-Microcephaly-Cataract Syndrome 
Ataxia-Oculomotor Apraxia 4  
ataxic cerebral palsy 
Atonic-Astatic Syndrome of Foerster 
autosomal dominant mental retardation 20  
Autosomal Dominant Mental Retardation 60  
autosomal recessive spinocerebellar ataxia 12  
Bangstad Syndrome 
Baraitser-Winter syndrome +   
Battaglia Neri Syndrome 
Behr Syndrome  
Benign Childhood Paroxysmal Tonic Upgaze with Ataxia 
benign neonatal seizures +   
Beta-Amino Acids, Renal Transport of 
Bhaskar Jagannathan Syndrome 
Borjeson-Forssman-Lehmann syndrome  
Boudhina Yedes Khiari syndrome 
BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS  
branched-chain keto acid dehydrogenase kinase deficiency  
CANOMAD Syndrome 
Carnitine Acetyltransferase Deficiency  
Cataract Ataxia Deafness 
Cataracts, Ataxia, Short Stature, and Mental Retardation 
CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY  
Cerebroretinal Microangiopathy with Calcifications and Cysts +   
Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy  
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 
COACH Syndrome  
coenzyme Q10 deficiency disease +   
Coffin Syndrome 1 
CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES  
Deafness Hyperuricemia Neurologic Ataxia 
demyelinating disease +   
Developmental Delay, Epilepsy, and Neonatal Diabetes  
Diaminopentanuria 
Drug Resistant Epilepsy +   
electroclinical syndrome +   
Epilepsy Telangiectasia 
Epilepsy, Early-Onset, Vitamin B6-Dependent  
Epilepsy, Hearing Loss, and Mental Retardation Syndrome  
Epilepsy, Occipital Calcifications 
Epilepsy, Post-Traumatic 
Erythrokeratodermia with Ataxia  
extratemporal epilepsy 
eye degenerative disease +   
eyelid degenerative disease +  
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome  
familial isolated deficiency of vitamin E  
Febrile Seizures +   
Feigenbaum Bergeron Richardson Syndrome 
FINCA Syndrome  
Focal Cortical Dysplasia of Taylor  
focal epilepsy +   
Gait Ataxia +   
Generalized Epilepsy +   
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine  
Glycosylphosphatidylinositol Deficiency +   
Gurrieri Sammito Bellussi Syndrome 
hereditary ataxia +   
Hot Water Epilepsy +  
Huntington's disease-like 2  
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism  
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME  
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME  
Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response 
Idiopathic Basal Ganglia Calcification 1  
Idiopathic Basal Ganglia Calcification 6  
Idiopathic Basal Ganglia Calcification 7  
infantile cerebellar-retinal degeneration  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY  
Joubert syndrome 7  
Kifafa Seizure Disorder 
Kohlschutter Tonz Syndrome  
Landau-Kleffner syndrome  
Lennox-Gastaut syndrome  
Leukoencephalopathy with Ataxia  
MEHMO syndrome  
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression  
Microcephaly, Epilepsy, and Diabetes Syndrome  
Microcephaly, Growth Deficiency, Seizures, and Brain Malformations  
Mitochondrial Myopathy, and Ataxia  
motor neuron disease +   
multiple system atrophy +   
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus 
myoclonic cerebellar dyssynergia +  
Myoclonic Epilepsies +   
Myokymia 1  
Nervous System Heredodegenerative Disorders +   
neurodegeneration with brain iron accumulation +   
NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES  
An autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development. Patient have cyclic episodic deterioration in response to stress, such as infection or febrile illness. Neurologic involvement includes gait ataxia, cerebellar signs associated with cerebellar atrophy, generalized brain atrophy, impaired intellectual development, hearing loss, and peripheral neuropathy.
NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA  
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 Impaired Intellectual Development, Hypotonia, and Ataxia   
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination  
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  
Neuronal Intranuclear Inclusion Disease  
olivopontocerebellar atrophy +   
Optic Atrophy 10 with or without Ataxia, Mental Retardation, and Seizures  
Paraneoplastic Syndromes, Nervous System +   
Partington syndrome  
PEHO syndrome  
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain 
PHARC syndrome  
Photogenic Epilepsy with Spastic Diplegia and Mental Retardation 
Pick's disease  
Pitt-Hopkins syndrome +   
plexopathy 
Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy  
pontocerebellar hypoplasia +   
Posterior Column Ataxia with Retinitis Pigmentosa  
postpoliomyelitis syndrome 
primary cerebellar degeneration +   
prion disease +   
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism  
pyridoxamine 5'-phosphate oxidase deficiency  
Pyridoxine-Dependent Epilepsy  
Radiation Sensitivity Chromosome Instability Syndrome, Autosomal Dominant 
Ramon Syndrome 
Reardon Wilson Cavanagh Syndrome 
Retinal Degeneration and Epilepsy 
Richards-Rundle Syndrome 
Rud Syndrome 
salt and pepper syndrome  
Sandhaus Ben-Ami Syndrome 
secondary Parkinson disease +   
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME  
Sensory Ataxia, Autosomal Dominant  
Spastic Ataxia with Congenital Miosis 
Spastic Paraplegia, Ataxia, and Mental Retardation 
Spastic Pseudosclerosis 
Spinocerebellar Ataxia with Epilepsy  
Spinocerebellar Ataxias +   
spondyloepimetaphyseal dysplasia, Genevieve-type  
status epilepticus +   
Subacute Combined Degeneration  
syndromic X-linked intellectual disability Hedera type  
synucleinopathy +   
Tapetoretinal Degeneration with Ataxia 
tauopathy +   
TDP-43 Proteinopathies +   
Treft Sanborn Carey Syndrome 
Tremor of Intention, Ataxia, and Lipofuscinosis 
Tryptophanuria with Dwarfism 
visual epilepsy +   
Wittwer Syndrome 
X-Linked Epilepsy, with Variable Learning Disabilities and Behavior Disorders  

Synonyms
Exact Synonyms: CONDSIAS ;   stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
Primary IDs: OMIM:618170
Definition Sources: OMIM:618170

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