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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
epilepsy +     
telangiectasis +     
Absent Eyebrows and Eyelashes with Mental Retardation 
acrodysostosis +   
AGAT deficiency  
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations 
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency  
Akesson Syndrome 
Al Gazali Aziz Salem Syndrome 
Al-Raqad Syndrome  
alacrima, achalasia, and impaired intellectual development syndrome  
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
Alazami Syndrome  
Alazami-Yuan Syndrome  
Alcohol Withdrawal Seizures  
Alopecia Contractures Dwarfism Mental Retardation 
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
alopecia, neurologic defects, and endocrinopathy syndrome  
Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan 
alopecia-mental retardation syndrome +   
alpha thalassemia-intellectual disability syndrome type 1 
AMED syndrome  
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 
AMME complex 
Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation 
Amyotrophic Dystonic Paraplegia 
Ansell Bywaters Elderking Syndrome 
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 
Arachnodactyly-Ataxia-Cataract-Aminoaciduria-Mental Retardation 
Arthrogryposis Epileptic Seizures Migrational Brain Disorder 
Arthrogryposis, Impaired Intellectual Development, and Seizures  
ataxia telangiectasia +   
ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS  
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION  
Au-Kline Syndrome  
Aughton Syndrome 
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 
autoimmune epilepsy 
autosomal dominant intellectual developmental disorder +   
Autosomal Dominant Intellectual Developmental Disorder 60  
autosomal recessive cutis laxa type III +   
autosomal recessive intellectual developmental disorder +   
autosomal recessive limb-girdle muscular dystrophy type 2P  
Autosomal Recessive Peripheral Neuropathy with or without Impaired Intellectual Development  
autosomal recessive spinocerebellar ataxia 12  
Ayme-Gripp syndrome  
Baraitser Rodeck Garner syndrome 
Baraitser-Winter syndrome +   
Basel-Vanagaite-Smirin-Yosef syndrome  
Battaglia Neri Syndrome 
BDV Syndrome  
Beaulieu-Boycott-Innes Syndrome  
Behr syndrome  
Bellini Chiumello Rimoldi Syndrome 
Beta-Amino Acids, Renal Transport of 
Biemond Syndrome II 
bilateral perisylvian polymicrogyria +   
Birk-Barel syndrome  
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 
blepharophimosis-impaired intellectual development syndrome  
Bohring Syndrome  
Borjeson-Forssman-Lehmann syndrome  
Boudhina Yedes Khiari syndrome 
brachycephaly, trichomegaly, and developmental delay  
branched-chain keto acid dehydrogenase kinase deficiency  
Bresheck/Bresek Syndrome 
Brunner syndrome  
Bullous Dystrophy, Hereditary Macular Type 
BURATTI-HAREL SYNDROME  
C syndrome  
CAHMR Syndrome 
Camera Marugo Cohen Syndrome 
Cantalamessa Baldini Ambrosi Syndrome 
Cantu Sanchez-Corona Fragoso Syndrome 
Cartwright Nelson Fryns Syndrome 
Cataracts, Ataxia, Short Stature, and Mental Retardation 
CATIFA Syndrome  
Cephalin Lipidosis 
cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome +   
Cerebellar Atrophy with Seizures and Variable Developmental Delay  
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES  
CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM  
cerebellofaciodental syndrome  
cerebral cavernous malformation 2  
cerebral cavernous malformation 3  
Cerebral Visual Impairment and Intellectual Disability  
cerebrocostomandibular syndrome  
cerebrooculofacioskeletal syndrome 2  
cerebrooculofacioskeletal syndrome 4  
Cerebrooculonasal Syndrome 
CHIME syndrome  
Choroid Plexus Calcification with Mental Retardation 
Christianson syndrome  
chromosome 13q14 deletion syndrome  
chromosome 15q11.2 deletion syndrome  
chromosome 15q13.3 microdeletion syndrome  
chromosome 15q24 deletion syndrome  
chromosome 15q26-qter deletion syndrome  
chromosome 16p11.2 deletion syndrome, 593-kb  
chromosome 17p13.1 deletion syndrome 
chromosome 17q11.2 deletion syndrome  
Chromosome 18 Pericentric Inversion 
chromosome 1q21.1 duplication syndrome  
chromosome 2q31.2 deletion syndrome 
chromosome 3q29 microdeletion syndrome  
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB  
chromosome 8q21.11 deletion syndrome 
Chromosome Xq28 Duplication Syndrome  
Chudley-Rozdilsky Syndrome 
cleft lip-palate-ectodermal dysplasia syndrome  
Cochlear Deafness with Myopia and Intellectual Impairment 
Coffin Syndrome 1 
Cohen syndrome  
Cohen-Gibson Syndrome  
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 
Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy 
congenital disorder of deglycosylation 2  
Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation 
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder  
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome 
Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies  
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation 
Congenital Muscular Dystrophy plus Mental Retardation 
congenital muscular dystrophy with cataracts and intellectual disability  
Cornelia de Lange syndrome +   
corpus callosum agenesis-abnormal genitalia syndrome  
Cortical Blindness, Retardation, and Postaxial Polydactyly 
craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome +   
Craniofaciofrontodigital Syndrome 
Craniosynostosis Mental Retardation Clefting Syndrome 
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 
Cree Mental Retardation Syndrome 
CREST syndrome  
Cri-du-Chat syndrome +   
Cubitus Valgus with Impaired Intellectual Development and Unusual Facies 
Curatolo Cilio Pessagno Syndrome 
Cutaneous Telangiectasia and Cancer Syndrome, Familial  
Cutis Marmorata Telangiectatica Congenita 
Cutis Verticis Gyrata and Mental Deficiency 
Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality 
Davis Lafer Syndrome 
De Sanctis-Cacchione syndrome  
DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY  
Deafness, Congenital Onychodystrophy, Recessive Form 
deafness-dystonia-optic neuronopathy syndrome  
developmental and epileptic encephalopathy 9  
developmental delay and seizures with or without movement abnormalities  
DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY  
DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES  
DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES  
Developmental Delay, Epilepsy, and Neonatal Diabetes  
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES  
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES  
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES  
Devriendt syndrome 
dicarboxylic aminoaciduria  
Diets-Jongmans Syndrome  
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
Distal Arthrogryposis, with Mental Retardation and Characteristic Facies 
Distal Transverse Limb Defects with Mental Retardation and Spasticity 
DOORS syndrome  
Down syndrome +   
Drug Resistant Epilepsy +   
Dubowitz syndrome  
Duchenne Muscular Dystrophy, Mental Retardation, and Absence of ERG B-wave 
Duker Weiss Siber syndrome 
Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone 
Dyggve-Melchior-Clausen disease +   
Dyskinesias, Seizures, and Intellectual Developmental Disorder  
Dysmyelination with Jaundice 
early-onset epilepsy 2  
early-onset epilepsy 3  
EAST syndrome  
Ectodermal Dysplasia, Mental Retardation, Syndactyly 
electroclinical syndrome +   
Elliott Ludman Teebi Syndrome 
Emanuel Syndrome 
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 
Epilepsy Telangiectasia 
Epilepsy, Occipital Calcifications 
Experimental Seizures  
extratemporal epilepsy 
Facial Abnormalities, Kyphoscoliosis, and Mental Retardation 
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome  
Faciocardiomelic Syndrome 
Fallot Complex with Severe Mental and Growth Retardation 
Familial Convulsive Disorder with Prenatal or Early Onset 
Febrile Seizures +   
Feingold syndrome +   
Feingold Trainer Syndrome 
FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME  
Filippi syndrome  
Fine-Lubinsky Syndrome  
Fitzsimmons Walson Mellor Syndrome 
Fitzsimmons-McLachlan-Gilbert syndrome 
Focal Cortical Dysplasia of Taylor +   
focal epilepsy +   
Focal Epilepsy with Speech Disorder and with or without Mental Retardation  
Fountain Syndrome 
Frenkel Russe Syndrome 
frontonasal dysplasia 3  
Garret Tripp Syndrome 
Generalized Epilepsy +   
Generalized Essential Telangiectasia 
Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones 
Genitopatellar Syndrome  
Gillespie syndrome  
Gingival Fibromatosis with Hypertrichosis and Mental Retardation 
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
Glycosylphosphatidylinositol Deficiency +   
Goniodysgenesis-Mental Retardation-Short Stature Syndrome 
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia 
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 
Growth Mental Deficiency Syndrome of Myhre  
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY  
Gurrieri Sammito Bellussi Syndrome 
Hair Defect with Photosensitivity and Mental Retardation 
Hall Riggs Mental Retardation Syndrome 
Halperin-Birk syndrome  
Hamamy Syndrome  
Harel-Yoon syndrome  
Harrod Doman Keele Syndrome 
Haspeslagh Fryns Muelenaere Syndrome 
hereditary hemorrhagic telangiectasia +   
hereditary spastic paraplegia 11  
hereditary spastic paraplegia 14 
hereditary spastic paraplegia 18  
hereditary spastic paraplegia 32 
HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME  
Hittner Hirsch Kreh Syndrome  
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate  
Hooft Disease 
Hordnes Engebretsen Knudtson syndrome 
Hoxha-Aliu syndrome  
Hoyeraal Hreidarsson Syndrome  
Hunter-McAlpine Syndrome 
Hydroxylysinuria 
Hyperglycinemia, Lactic Acidosis, and Seizures  
hyperimmunoglobulin syndrome +   
Hyperleucine-Isoleucinemia 
Hyperlysinemia due to Defect in Lysine Transport into Mitochondria 
hypermethioninemia due to adenosine kinase deficiency  
Hyperphosphatemia, Polyuria, and Seizures 
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 
Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum 
HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY +   
hypoparathyroidism-retardation-dysmorphism syndrome  
Hypospadias-Mental Retardation Syndrome 
Hypotonia, Seizures, and Precocious Puberty 
hypotonia-cystinuria syndrome  
hypotrichosis-lymphedema-telangiectasia syndrome +   
Ichthyosis and Male Hypogonadism 
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 
Ichthyosis, Spastic Quadriplegia, and Mental Retardation  
Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 
immunoglobulin alpha deficiency +   
Impaired intellectual development, anterior maxillary protrusion, and strabismus  
Indolylacroyl Glycinuria with Mental Retardation 
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development  
Infantile Hyperuricemia with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase 
Infantile Hypotonia with Psychomotor Retardation +   
Infantile Multisystem Neurologic Disease with Osseous Fragility 
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA  
Intellectual Developmental Disorder with Autism and Dysmorphic Facies  
Intellectual Developmental Disorder with Autism and Macrocephaly  
Intellectual Developmental Disorder with Autism and Speech Delay  
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 cardiac arrhythmia  
Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES  
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis  
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM  
Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS  
Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA  
Intellectual Developmental Disorder with Seizures and Language Delay  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS  
intellectual developmental disorder with short stature and behavioral abnormalities  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS  
Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy  
Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES  
Intellectual Developmental Disorder, Autosomal Dominant, FRA12A Type  
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES  
intellectual disability and myopathy syndrome  
Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis  
isolated cleft palate  
Jagell Holmgren Hofer Syndrome 
Johanson-Blizzard syndrome  
Joubert syndrome 14  
Joubert syndrome 15  
Joubert Syndrome 27  
Joubert Syndrome 28  
Joubert syndrome 7  
Joubert syndrome 9  
Kahrizi syndrome  
Kaler Garrity Stern Syndrome 
Kapur Toriello Syndrome  
Karandikar Maria Kamble Syndrome 
Katsantoni Papadakou Lagoyanni Syndrome 
KBG syndrome  
Keppen-Lubinsky Syndrome  
Khalifa Graham Syndrome 
Kifafa Seizure Disorder 
KINSSHIP syndrome  
Kleefstra syndrome +   
Kohlschutter-Tonz syndrome  
KOHLSCHUTTER-TONZ SYNDROME-LIKE  
Koone Rizzo Elias Syndrome 
Kosztolanyi Syndrome 
Kozlowski Ouvrier Syndrome 
Kozlowski Rafinski Klicharska Syndrome 
Kozlowski-Krajewska Syndrome 
Kuzniecky Andermann Syndrome 
Lambert Syndrome 
Late-Onset Localized Junctional Epidermolysis Bullosa with Mental Retardation 
Lenz-Majewski hyperostotic dwarfism  
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
Li-Campeau Syndrome  
LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME  
lissencephaly 3 +   
lissencephaly 4  
Lowry Maclean syndrome 
Lowry Wood Syndrome  
Lubani Al Saleh Teebi Syndrome 
Luscan-Lumish Syndrome  
Lynch Lee Murday syndrome 
MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT  
Macrosomia Obesity Macrocephaly Ocular Abnormalities 
Male Hypogonadism with Mental Retardation and Skeletal Anomalies 
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type 
Mandibulofacial Dysostosis with Mental Deficiency  
mandibulofacial dysostosis, Guion-Almeida type  
Marfanoid Mental Retardation Syndrome, Autosomal  
Marinesco-Sjogren syndrome  
MASA syndrome  
McDonough Syndrome 
megalencephalic leukoencephalopathy with subcortical cysts 2B  
Megalencephaly - Cutis Marmorata Telangiectatica Congenita  
Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability  
MEHMO syndrome  
MEND syndrome  
Menke-Hennekam Syndrome +   
Mental and Growth Retardation with Amblyopia 
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects  
Mental Retardation Associated with Psoriasis 
Mental Retardation Mietens Weber Type 
Mental Retardation Smith Fineman Myers Type 
Mental Retardation Spasticity Ectrodactyly 
Mental Retardation Syndrome, Belgian Type 
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 
Mental Retardation with Spastic Paraplegia 
Mental Retardation Wolff Type  
Mental Retardation, Buenos Aires Type 
Mental Retardation, Joint Hypermobility, and Skin Laxity, with or without Metabolic Abnormalities 
Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block 
Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 
Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness 
Methionine Malabsorption Syndrome 
Microcephalic Primordial Dwarfism Toriello Type 
Microcephaly Deafness Syndrome 
Microcephaly Seizures Mental Retardation Heart Disorders 
Microcephaly Sparse Hair Mental Retardation Seizures 
Microcephaly with Cervical Spine Fusion Anomalies 
Microcephaly with Mental Retardation and Digital Anomalies  
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation  
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 
Microcephaly, Epilepsy, and Diabetes Syndrome +   
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation 
microcephaly, growth deficiency, seizures, and brain malformations  
Microcephaly, Macrotia, and Mental Retardation 
Microphthalmia and Mental Deficiency 
Mirhosseini-Holmes-Walton Syndrome 
Mollica-Pavone-Antener Syndrome 
MOMES Syndrome 
Morillo-Cucci Passarge Syndrome 
MORM Syndrome  
Mowat-Wilson syndrome  
multiple benign circumferential skin creases on limbs +   
multiple congenital anomalies-hypotonia-seizures syndrome 3  
Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability  
muscular dystrophy-dystroglycanopathy type B1  
muscular dystrophy-dystroglycanopathy type B14  
muscular dystrophy-dystroglycanopathy type B2  
muscular dystrophy-dystroglycanopathy type B3  
muscular dystrophy-dystroglycanopathy type B6  
Myoclonic Epilepsies +   
Myopathy, Epilepsy, and Progressive Cerebral Atrophy  
Myotonia with Skeletal Abnormalities and Mental Retardation 
N syndrome 
Nephrogenic Diabetes Insipidus with Mental Retardation and Intracerebral Calcification 
Neuhauser Syndrome 
NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT  
NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY  
NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY  
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES  
Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures  
NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY  
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS  
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 hearing loss, seizures, and brain abnormalities  
NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES  
neurodevelopmental disorder with hypotonia and speech delay  
neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures  
neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language  
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia   
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS  
NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES  
neurodevelopmental disorder with language delay and seizures  
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES  
Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS  
NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM  
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 Abnormalities  
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  
Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM  
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES  
Neurofaciodigitorenal Syndrome 
NF1 Microduplication Syndrome 
Nicolaides-Baraitser syndrome  
non-syndromic intellectual disability +   
nonprogressive cerebellar ataxia with mental retardation  
Ohdo syndrome +   
Okur-Chung Neurodevelopmental Syndrome  
Oliver Syndrome 
Oliver-McFarlane syndrome  
ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME  
Onychotrichodysplasia and Neutropenia 
optic atrophy 10  
Osteolysis Syndrome, Recessive 
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures  
Palant Cleft Palate Syndrome 
Pallister W Syndrome 
parastremmatic dwarfism  
Parkinson's disease 25  
Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV 
Pashayan Syndrome 
Patella Hypoplasia Mental Retardation 
Pavone Fiumara Rizzo Syndrome 
PEHO-like syndrome  
Perniola Krajewska Carnevale Syndrome 
Pfeiffer Kapferer Syndrome 
Pfeiffer Mayer Syndrome 
Pfeiffer Tietze Welte Syndrome 
Photogenic Epilepsy with Spastic Diplegia and Mental Retardation 
photosensitive trichothiodystrophy 1  
Pilotto Syndrome 
Pitt-Hopkins syndrome +   
Piussan Lenaerts Mathieu syndrome 
POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME  
polyhydramnios, megalencephaly, and symptomatic epilepsy  
Post-Traumatic Epilepsy 
Prader-Willi syndrome +   
Primrose Syndrome  
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy  
Progressive Ophthalmoplegia with Scrotal Tongue and Mental Deficiency 
Progressive Vitiligo with Mental Retardation and Urethral Duplication 
Prolonged Bleeding Time, Brachydactyly, and Mental Retardation 
Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation  
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness 
Pseudoaminopterin Syndrome 
Pseudouridinuria and Mental Defect 
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism  
Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related  
pyridoxamine 5'-phosphate oxidase deficiency  
pyridoxine-dependent epilepsy +   
Qazi Markouizos syndrome 
RADIO-TARTAGLIA SYNDROME  
Radioulnar Synostosis Retinal Pigment Abnormalities 
Rahman Syndrome  
Ramon Syndrome 
Ramos Arroyo Clark Syndrome 
RAUCH-STEINDL SYNDROME  
Reardon Wilson Cavanagh Syndrome 
Retinal Degeneration and Epilepsy 
retinal telangiectasia +   
Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 
Reynolds Syndrome  
Richards-Rundle Syndrome 
Ritscher-Schinzel syndrome 2  
Robin Sequence with Distinctive Facial Appearance and Brachydactyly 
ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED  
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant 
Rubinstein-Taybi syndrome +   
Rud Syndrome 
Ruzicka Goerz Anton syndrome 
salt and pepper syndrome  
Sammartino De Crecchio Syndrome 
Sandhaus Ben-Ami Syndrome 
Sao Paulo MCA/MR Syndrome 
SATB2-associated syndrome  
Scaphocephaly, Maxillary Retrusion, and Impaired Intellectual Development  
SCARF Syndrome 
Schaaf-Yang syndrome  
Schinzel Giedion syndrome  
Schofer Beetz Bohl Syndrome 
Scholte Syndrome 
Schrander-Stumpel Theunissen Hulsmans Syndrome 
Sclerosing Bone Dysplasia, Mental Retardation 
Seckel Syndrome 3 
Seckel syndrome 4  
Seemanova Lesny Syndrome 
SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS  
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME  
selective IgA deficiency disease  
selective IgE deficiency disease 
selective IgG deficiency disease +   
selective IgM deficiency disease 
Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration 
Shaheen Syndrome  
Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures  
Short Stature, Impaired Intellectual Development, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 
SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES  
Simpson-Golabi-Behmel syndrome type 1  
Singh Chhaparwal Dhanda Syndrome 
Skeletal Defects, Genital Hypoplasia, And Mental Retardation  
Sketetal Dysplasia Coarse Facies Mental Retardation  
Smith-Kingsmore Syndrome  
Snijders Blok-Campeau Syndrome  
spastic ataxia +   
Spastic Diplegia Infantile Type 
Spastic Paraplegia, Ataxia, and Mental Retardation 
Spastic Paraplegia, Epilepsy, Mental Retardation 
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY  
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 
Spastic Paresis, Glaucoma, and Mental Retardation 
Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation 
Spinal Muscular Atrophy with Mental Retardation 
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 
Spinocerebellar Ataxia with Epilepsy  
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
spondyloepimetaphyseal dysplasia, Genevieve-type  
spondyloepiphyseal dysplasia tarda with intellectual disability 
spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability 
spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis  
status epilepticus +   
Stevenson-Carey Syndrome 
Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly  
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures  
STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS  
Sucrosuria, Hiatus Hernia and Mental Retardation 
Supernumerary Der(22)t(8;22) Syndrome 
syndromic intellectual disability +   
syndromic X-linked intellectual disability Hedera type  
Takenouchi-Kosaki Syndrome  
Tamari Goodman Syndrome 
Temple-Baraitser syndrome  
temtamy preaxial brachydactyly syndrome  
Tenorio Syndrome  
Tetrasomy X 
THAUVIN-ROBINET-FAIVRE SYNDROME  
Tolchin-Le Caignec Syndrome  
Tonoki Syndrome 
Trichodental Syndrome 
Tryptophanuria with Dwarfism 
Tsukahara Syndrome  
Ulnar Hypoplasia with Mental Retardation 
Upton Young Syndrome 
uveal coloboma-cleft lip and palate-intellectual disability  
Van Bogaert-Hozay Syndrome 
Van Den Bosch Syndrome 
Van Maldergem syndrome +   
Vasquez Hurst Sotos Syndrome 
Verloes Gillerot Fryns Syndrome 
VERVERI-BRADY SYNDROME  
Viljoen Kallis Voges Syndrome 
Vissers-Bodmer syndrome  
visual epilepsy +   
Volcke Soekarman Syndrome 
WAGR syndrome +   
Waisman syndrome  
Walker Dyson Syndrome 
Warburg micro syndrome +   
Warburton Anyane Yeboa Syndrome  
Webb-Dattani Syndrome  
Wiedemann Grosse Dibbern Syndrome 
Wiedemann Oldigs Oppermann Syndrome 
Wiedemann-Steiner syndrome  
Williams-Beuren syndrome +   
Winship Viljoen Leary Syndrome 
Wittwer Syndrome  
Woodhouse-Sakati syndrome  
Worster-Drought Syndrome  
X-linked Epilepsy 2 with or without Impaired Intellectual Development and Dysmorphic Features  
X-linked epilepsy with variable learning disabilities and behavior disorders  
X-Linked Intellectual Developmental Disorders +   
Yoon-Bellen neurodevelopmental syndrome  
Young Hughes Syndrome 
Zazam Sheriff Phillips Syndrome 
Zechi-Ceide Syndrome 
Zerres Rietschel Majewski Syndrome 
ZTTK syndrome  

Synonyms
Primary IDs: MESH:C535497
Alternate IDs: MIM:226850

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