Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES (DOID:9003251)
Annotations: Rat: (1) Mouse: (1) Human: (2) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
3MC syndrome 3  
Abuse Dwarfism Syndrome 
Adams Nance Syndrome 
AGAT deficiency  
Al Gazali Sabrinathan Nair Syndrome 
Alcohol Withdrawal Seizures  
Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 
AMED syndrome  
Arboleda-Tham syndrome  
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development  
Arthrogryposis, Impaired Intellectual Development, and Seizures  
autosomal dominant intellectual developmental disorder 6  
autosomal recessive spinocerebellar ataxia 19  
autosomal recessive spinocerebellar ataxia 2  
Bagatelle Cassidy syndrome 
Bainbridge-Ropers syndrome  
Baraitser Rodeck Garner syndrome 
Beaulieu-Boycott-Innes Syndrome  
Beck-Fahrner Syndrome  
Bosch-Boonstra-Schaaf optic atrophy syndrome  
Brachycephaly, Trichomegaly, and Developmental Delay  
Cerebellar Atrophy with Seizures and Variable Developmental Delay  
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES  
Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation  
CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM  
cerebellar hypoplasia +   
cerebellofaciodental syndrome  
Cerebroretinal Microangiopathy with Calcifications and Cysts +   
childhood onset epileptic encephalopathy +   
Chitayat Moore Del Bigio Syndrome 
Chitty Hall Webb Syndrome 
chromosome 13q14 deletion syndrome  
chromosome 15q13.3 microdeletion syndrome  
chromosome 17p13.3 duplication syndrome  
chromosome 3q29 microdeletion syndrome  
chromosome Xp11.23-p11.22 duplication syndrome 
Cleft Palate, Proliferative Retinopathy, and Developmental Delay  
Cohen syndrome  
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder  
Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies  
congenital limbs-face contractures-hypotonia-developmental delay syndrome  
Copper Deficiency, Familial Benign 
Corneal Cerebellar Syndrome 
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Craniosynostosis 2  
Der Kaloustian Mcintosh Silver Syndrome 
Desanto-Shinawi Syndrome  
developmental delay and seizures with or without movement abnormalities  
DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES  
Developmental Delay with or without Dysmorphic Facies and Autism  
DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES  
DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES  
DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY  
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES  
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES  
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2  
Dyskinesias, Seizures, and Intellectual Developmental Disorder  
Dysmyelination with Jaundice 
EAST syndrome  
EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY  
Experimental Seizures  
Familial Convulsive Disorder with Prenatal or Early Onset 
Familial Infantile Convulsions and Paroxysmal Choreoathetosis  
Faundes-Banka Syndrome  
Forebrain Defects  
Forsythe-Wakeling Syndrome 
Fragile Site 16p12 
Frank-Ter Haar syndrome  
Friedreich ataxia +   
Galloway-Mowat syndrome +   
GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT  
GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES  
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  
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 
Hereditary Spinal Ataxia 
Heyn-Sproul-Jackson Syndrome  
HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME  
Hyper-Beta-Alaninemia 
Hyperglycinemia, Lactic Acidosis, and Seizures  
Hyperleucine-Isoleucinemia 
hypermethioninemia due to adenosine kinase deficiency  
Hyperphosphatemia, Polyuria, and Seizures 
HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY +   
hypoparathyroidism-retardation-dysmorphism syndrome  
HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT  
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME  
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME  
Hypotonia, Seizures, and Precocious Puberty 
Immunodeficiency 78 with Autoimmunity and Developmental Delay  
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA  
infantile cerebellar-retinal degeneration  
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly  
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies  
Keppen-Lubinsky Syndrome  
KINSSHIP syndrome  
KOHLSCHUTTER-TONZ SYNDROME-LIKE  
KURY-ISIDOR SYNDROME  
Lamb-Shaffer Syndrome  
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME  
Li-Campeau Syndrome  
Loucks-Innes Syndrome  
Luscan-Lumish syndrome  
Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block 
Methionine Malabsorption Syndrome 
Microcephaly Seizures Genital Hypoplasia 
Microcephaly Seizures Mental Retardation Heart Disorders 
Microcephaly Sparse Hair Mental Retardation Seizures 
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum  
MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME  
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
microcephaly, seizures, and developmental delay  
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures  
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 
Muller Barth Menger Syndrome 
multiple congenital anomalies-hypotonia-seizures syndrome +   
myoclonic cerebellar dyssynergia +  
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION  
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY  
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures   
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE  
Nizon-Isidor Syndrome  
Non-Lissencephalic Cortical Dysplasia 
Obesity, Hyperphagia, and Developmental Delay  
Occipital Cortical Malformations  
Ogden syndrome  
Oliver-McFarlane syndrome  
olivopontocerebellar atrophy +   
optic atrophy 10  
OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME  
Osteoporosis, Childhood- or Juvenile-Onset, with Developmental Delay  
osteosclerotic metaphyseal dysplasia  
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 
PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES  
Partington Anderson Syndrome 
Partington syndrome  
Periventricular Nodular Heterotopia 7  
Perniola Krajewska Carnevale Syndrome 
PHGDH deficiency  
Pierpont Syndrome  
Posterior Column Ataxia 
Primary Aldosteronism, Seizures, and Neurologic Abnormalities  
PSAT deficiency  
Pseudo-TORCH Syndrome +   
Qazi Markouizos syndrome 
Rajab Interstitial Lung Disease with Brain Calcifications +   
Refsum Disease with Increased Pipecolic Acidemia 
Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay  
Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal  
Roifman-Chitayat Syndrome  
Seizures, Cortical Blindness, and Microcephaly Syndrome  
Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures  
Short Stature, Developmental Delay, and Congenital Heart Defects  
SIDDIQI SYNDROME  
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay  
Smith-Kingsmore Syndrome  
Snijders Blok-Fisher Syndrome  
Spinocerebellar Ataxias +   
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type  
Stiff Thumbs, with Brachydactyly Type A1 and Developmental Delay 
Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly  
succinic semialdehyde dehydrogenase deficiency  
syndromic X-linked intellectual disability 5  
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 
Tranebjaerg Svejgaard syndrome 
TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME  
Turnpenny-Fry Syndrome  
Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia 
VERVERI-BRADY SYNDROME  
WEISS-KRUSZKA SYNDROME  
White-Sutton syndrome  
X-linked mental retardation Gustavson type 
ZAKI SYNDROME  

Synonyms
Exact Synonyms: CADEDS
Primary IDs: OMIM:617643 ;   RDO:9005145

paths to the root