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Term:
autosomal dominant mental retardation 20 (DOID:0070050)
Annotations: Rat: (1) Mouse: (1) Human: (2) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
3-M syndrome +   
AGAT deficiency  
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency  
Al-Raqad Syndrome  
Alazami-Yuan Syndrome  
Allan-Herndon-Dudley syndrome  
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan 
aphasia +   
Arboleda-Tham syndrome  
Arthrogryposis Epileptic Seizures Migrational Brain Disorder 
articulation disorder +   
Atonic-Astatic Syndrome of Foerster 
autosomal dominant mental retardation 20  
An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of MEF2C on chromosome 5q14.3. (DO)
autosomal dominant mental retardation 45  
autosomal dominant mental retardation 46  
autosomal dominant mental retardation 47  
autosomal dominant mental retardation 48  
autosomal dominant mental retardation 50  
autosomal dominant mental retardation 51  
autosomal dominant mental retardation 52  
autosomal dominant mental retardation 53  
autosomal dominant mental retardation 54  
Autosomal Dominant Mental Retardation 57  
Autosomal Dominant Mental Retardation 58  
Autosomal Dominant Mental Retardation 59  
Autosomal Dominant Mental Retardation 60  
Autosomal Dominant Mental Retardation 61  
Autosomal Dominant Mental Retardation 62  
Autosomal Dominant Mental Retardation 63 with Macrocephaly  
Autosomal Dominant Mental Retardation 64  
autosomal dominant non-syndromic intellectual disability 1  
autosomal dominant non-syndromic intellectual disability 10  
autosomal dominant non-syndromic intellectual disability 11  
autosomal dominant non-syndromic intellectual disability 13  
autosomal dominant non-syndromic intellectual disability 18  
autosomal dominant non-syndromic intellectual disability 19  
autosomal dominant non-syndromic intellectual disability 2  
autosomal dominant non-syndromic intellectual disability 21  
autosomal dominant non-syndromic intellectual disability 22  
autosomal dominant non-syndromic intellectual disability 23  
autosomal dominant non-syndromic intellectual disability 26  
autosomal dominant non-syndromic intellectual disability 29  
autosomal dominant non-syndromic intellectual disability 3  
autosomal dominant non-syndromic intellectual disability 30  
autosomal dominant non-syndromic intellectual disability 31  
autosomal dominant non-syndromic intellectual disability 33  
autosomal dominant non-syndromic intellectual disability 34  
autosomal dominant non-syndromic intellectual disability 35  
autosomal dominant non-syndromic intellectual disability 36  
autosomal dominant non-syndromic intellectual disability 38  
autosomal dominant non-syndromic intellectual disability 39  
autosomal dominant non-syndromic intellectual disability 4  
autosomal dominant non-syndromic intellectual disability 40  
autosomal dominant non-syndromic intellectual disability 41  
autosomal dominant non-syndromic intellectual disability 42  
autosomal dominant non-syndromic intellectual disability 43  
autosomal dominant non-syndromic intellectual disability 44  
autosomal dominant non-syndromic intellectual disability 5  
autosomal dominant non-syndromic intellectual disability 6  
autosomal dominant non-syndromic intellectual disability 7  
autosomal dominant non-syndromic intellectual disability 8  
autosomal recessive spinocerebellar ataxia 12  
Baraitser-Winter syndrome +   
Battaglia Neri Syndrome 
Beta-Amino Acids, Renal Transport of 
Birk-Barel syndrome  
Borjeson-Forssman-Lehmann syndrome  
Boudhina Yedes Khiari syndrome 
branched-chain keto acid dehydrogenase kinase deficiency  
Carnitine Acetyltransferase Deficiency  
Cerebellar Atrophy with Seizures and Variable Developmental Delay  
Christianson syndrome  
chromosome 17p13.1 deletion syndrome 
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB 
Clark-Baraitser syndrome  
Coffin Syndrome 1 
Coffin-Siris syndrome +   
Coffin-Siris syndrome 9  
Cohen syndrome  
combined oxidative phosphorylation deficiency 3  
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  
Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 
Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies  
De Hauwere syndrome 
Der Kaloustian Mcintosh Silver Syndrome 
Desanto-Shinawi Syndrome  
Developmental Delay, Epilepsy, and Neonatal Diabetes  
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2  
Drug Resistant Epilepsy +   
early-onset vitamin B6-dependent epilepsy  
echolalia 
electroclinical syndrome +   
Emanuel Syndrome 
Epilepsy Telangiectasia 
EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY  
Epilepsy, Hearing Loss, and Mental Retardation Syndrome  
Epilepsy, Occipital Calcifications 
Epilepsy, Post-Traumatic 
Ethanolaminosis 
extratemporal epilepsy 
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome  
Febrile Seizures +   
FG syndrome +   
Focal Cortical Dysplasia of Taylor +   
focal epilepsy +   
Focal Epilepsy with Speech Disorder and with or without Mental Retardation  
fumarase deficiency  
Generalized Epilepsy +   
German Syndrome 
glycogen storage disease IX +   
Glycosylphosphatidylinositol Deficiency +   
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY  
Grubben de Cock Borghgraef Syndrome 
Gurrieri Sammito Bellussi Syndrome 
Helsmoortel-Van Der Aa syndrome  
Hot Water Epilepsy +  
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME  
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME  
Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response 
Hypotonia, Seizures, and Precocious Puberty 
hypotonia-cystinuria syndrome  
Infantile Hypotonia with Psychomotor Retardation +   
Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age 
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 HYPOTONIA AND BEHAVIORAL ABNORMALITIES  
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  
Joubert syndrome 10  
Joubert syndrome 3  
Joubert syndrome 5  
Ketoadipicaciduria 
Kifafa Seizure Disorder 
Kilquist Syndrome  
Kohlschutter-Tonz syndrome  
Koolen de Vries syndrome  
Landau-Kleffner syndrome  
Maxillofacial Dysostosis 
MEHMO syndrome  
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
Microcephaly, Epilepsy, and Diabetes Syndrome  
Microcephaly, Growth Deficiency, Seizures, and Brain Malformations  
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 
multiple congenital anomalies-hypotonia-seizures syndrome +   
mutism  
Myoclonic Epilepsies +   
Myopathy, Epilepsy, and Progressive Cerebral Atrophy  
NESCAV syndrome  
NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY  
NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA  
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA  
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 HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS  
Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES  
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures   
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE  
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia   
Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements  
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES  
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 Nonepileptic Hyperkinetic Movements  
Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment  
NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES  
Non-Lissencephalic Cortical Dysplasia 
Okur-Chung Neurodevelopmental Syndrome  
Opticocochleodentate Degeneration 
Osteosclerotic Metaphyseal Dysplasia  
PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES  
Photogenic Epilepsy with Spastic Diplegia and Mental Retardation 
Pitt-Hopkins syndrome +   
POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME  
Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy  
PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL  
Popov-Chang Syndrome 
Progressive Encephalopathy with Amyotrophy and Optic Atrophy  
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy  
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism  
pyridoxamine 5'-phosphate oxidase deficiency  
pyridoxine-dependent epilepsy  
Qazi Markouizos syndrome 
Ramon Syndrome 
Retinal Degeneration and Epilepsy 
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked  
Rud Syndrome 
salt and pepper syndrome  
Sandhaus Ben-Ami Syndrome 
scalp-ear-nipple syndrome  
Schuurs-Hoeijmakers syndrome  
SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS  
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME  
Snijders Blok-Fisher Syndrome  
SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE  
Speech Disturbance - Use of Faulty Phrasing and Unrelated Words 
speech-language disorder-1  
Spinocerebellar Ataxia with Epilepsy  
status epilepticus +   
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures  
syndromic X-linked intellectual disability Hedera type  
Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia 
VISSERS-BODMER SYNDROME  
visual epilepsy +   
Vulto-van Silfout-de Vries syndrome  
Webb-Dattani Syndrome  
White-Sutton syndrome  
Wittwer Syndrome  
X-linked epilepsy with variable learning disabilities and behavior disorders  
Xia-Gibbs syndrome  

Synonyms
Exact Synonyms: INTELLECTUAL DISABILITY, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS ;   MEF2C-RELATED DISORDER ;   MRD20 ;   Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
Narrow Synonyms: MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS CHROMOSOME 5q14.3 DELETION SYNDROME, PROXIMAL
Primary IDs: OMIM:613443
Alternate IDs: RDO:0009836
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/20513142 "DO"

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