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Term:
Cerebellar Atrophy with Seizures and Variable Developmental Delay (DOID:9009196)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
3MC syndrome 3  
Abuse Dwarfism Syndrome 
AGAT deficiency  
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency  
Al Gazali Sabrinathan Nair Syndrome 
Alopecia Epilepsy Oligophrenia Syndrome of Moynahan 
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
Arthrogryposis Epileptic Seizures Migrational Brain Disorder 
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development  
autosomal dominant mental retardation 20  
Autosomal Dominant Mental Retardation 60  
autosomal recessive spinocerebellar ataxia 12  
autosomal recessive spinocerebellar ataxia 19  
autosomal recessive spinocerebellar ataxia 2  
Bagatelle Cassidy syndrome 
Bainbridge-Ropers Syndrome  
Baraitser-Winter syndrome +   
Battaglia Neri Syndrome 
Beaulieu-Boycott-Innes Syndrome  
benign neonatal seizures +   
Beta-Amino Acids, Renal Transport of 
Borjeson-Forssman-Lehmann syndrome  
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome  
Boudhina Yedes Khiari syndrome 
Brachycephaly, Trichomegaly, and Developmental Delay  
branched-chain keto acid dehydrogenase kinase deficiency  
Cerebellar Atrophy with Seizures and Variable Developmental Delay  
An autosomal recessive neurologic disorder characterized by cerebellar ataxia associated with atrophy of the cerebellar vermis on brain imaging.
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES  
Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation  
Cerebellar Hypoplasia +   
Cerebellofaciodental Syndrome  
Chitayat Moore Del Bigio Syndrome 
Chitty Hall Webb Syndrome 
Chondrodysplasia, Megarbane-Dagher-Melki Type  
Christianson syndrome  
chromosome 13q14 deletion syndrome  
chromosome 17p13.3 duplication syndrome  
chromosome 3q29 microdeletion syndrome 
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB 
chromosome Xp11.23-p11.22 duplication syndrome 
Coffin Syndrome 1 
Cohen syndrome  
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  
Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder  
CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES  
Corneal Cerebellar Syndrome 
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Der Kaloustian Mcintosh Silver Syndrome 
Desanto-Shinawi Syndrome  
DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM  
Developmental Delay, Epilepsy, and Neonatal Diabetes  
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES  
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2  
Drug Resistant Epilepsy +   
Dyskinesias, Seizures, and Intellectual Developmental Disorder  
electroclinical syndrome +   
Epilepsy Telangiectasia 
Epilepsy, Early-Onset, Vitamin B6-Dependent  
Epilepsy, Hearing Loss, and Mental Retardation Syndrome  
Epilepsy, Occipital Calcifications 
Epilepsy, Post-Traumatic 
extratemporal epilepsy 
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome  
Febrile Seizures +   
Focal Cortical Dysplasia of Taylor +   
focal epilepsy +   
Forebrain Defects  
Forsythe-Wakeling Syndrome 
Fragile Site 16p12 
Friedreich ataxia +   
Galloway-Mowat syndrome +   
Generalized Epilepsy +   
GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT  
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor  
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine  
Glycosylphosphatidylinositol Deficiency +   
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
Grubben de Cock Borghgraef Syndrome 
Gurrieri Sammito Bellussi Syndrome 
Hereditary Spinal Ataxia 
Heyn-Sproul-Jackson Syndrome  
Hot Water Epilepsy +  
hypermethioninemia due to adenosine kinase deficiency  
HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT  
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME  
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME  
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA  
infantile cerebellar-retinal degeneration  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES 
INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY  
Kat6a Syndrome  
Keppen-Lubinsky Syndrome  
Kifafa Seizure Disorder 
Kohlschutter-Tonz syndrome  
Lamb-Shaffer Syndrome  
Landau-Kleffner syndrome  
Lennox-Gastaut syndrome  
Loucks-Innes Syndrome  
Luscan-Lumish syndrome  
MEHMO syndrome  
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum  
Microcephaly, Epilepsy, and Diabetes Syndrome  
Microcephaly, Growth Deficiency, Seizures, and Brain Malformations  
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
microcephaly, seizures, and developmental delay  
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay  
Mousa Al din Al Nassar Syndrome 
myoclonic cerebellar dyssynergia +  
Myoclonic Epilepsies +   
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 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  
Non-Lissencephalic Cortical Dysplasia 
Obesity, Hyperphagia, and Developmental Delay  
Ogden syndrome  
Oliver-McFarlane syndrome  
olivopontocerebellar atrophy +   
Osteosclerotic Metaphyseal Dysplasia  
PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES 
Partington Anderson Syndrome 
Periventricular Nodular Heterotopia with Syndactyly, Cleft Palate and Developmental Delay  
Photogenic Epilepsy with Spastic Diplegia and Mental Retardation 
Pierpont syndrome  
Pitt-Hopkins syndrome +   
POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME 
Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy  
Posterior Column Ataxia 
Pseudo-TORCH Syndrome +   
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism  
pyridoxamine 5'-phosphate oxidase deficiency  
Pyridoxine-Dependent Epilepsy  
Rajab Syndrome  
Ramon Syndrome 
Refsum Disease with Increased Pipecolic Acidemia 
Retinal Degeneration and Epilepsy 
Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay  
Roifman-Chitayat Syndrome 
Rud Syndrome 
salt and pepper syndrome  
Sandhaus Ben-Ami Syndrome 
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME  
Short Stature, Developmental Delay, and Congenital Heart Defects  
SIDDIQI SYNDROME  
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay  
SNIJDERS BLOK-FISHER SYNDROME  
Spinocerebellar Ataxia with Epilepsy  
Spinocerebellar Ataxia, X-Linked, 2 
Spinocerebellar Ataxia, X-Linked, 4 
Spinocerebellar Ataxias +   
status epilepticus +   
Stiff Thumbs, with Brachydactyly Type A1 and Developmental Delay 
Stress-Induced Childhood-Onset Neurodegeneration with Variable Ataxia and Seizures  
succinic semialdehyde dehydrogenase deficiency  
syndromic X-linked intellectual disability Hedera type  
Ter Haar Syndrome  
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 
Turnpenny-Fry Syndrome  
Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia 
VERVERI-BRADY SYNDROME  
visual epilepsy +   
WEBB-DATTANI SYNDROME  
WEISS-KRUSZKA SYNDROME  
Wittwer Syndrome  
X-Linked Epilepsy, with Variable Learning Disabilities and Behavior Disorders  

Synonyms
Exact Synonyms: CASVDD
Primary IDs: OMIM:618501
Definition Sources: OMIM:618501

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