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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:intellectual disability
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Accession:DOID:1059 term browser browse the term
Definition:A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills. (DO)
Synonyms:exact_synonym: INTELLECTUAL DEVELOPMENTAL DISORDER;   INTELLECTUAL FUNCTIONING DISABILITY;   Intellectual Development Disorder;   Intellectual Disabilities;   idiocy;   intellectual deficiency;   intellectual development disorders;   mental deficiencies;   mental deficiency;   mental retardation
 narrow_synonym: CLIP1-RELATED INTELLECTUAL DISABILITY;   INTELLECTUAL DISABILITY (MODERATE);   INTELLECTUAL DISABILITY, PROFOUND;   INTELLECTUAL DISABILITY, RECESSIVE;   INTELLECTUAL DISABILITY, SEVERE;   Intellectual disability syndrome;   Intellectual disability, mild;   autosomal recessive non-syndromic intellectual disability;   intellectual deficiency, moderate;   intellectual disability with severe speech impairment;   intellectual disability, dominant;   psychosocial mental retardation;   psychosocial mental retardations;   severe intellectual deficiency;   syndromic intellectual disability
 primary_id: MESH:D008607
 xref: EFO:0003847;   NCI:C84392;   NCI:C97250
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      disease 19050
        Developmental Disease 14522
          Neurodevelopmental Disorders 6940
            intellectual disability 4378
              AGAT deficiency 17
              AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency 1
              AMED syndrome 2
              AMME complex 0
              ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION 1
              Absent Eyebrows and Eyelashes with Mental Retardation 0
              Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations 0
              Akesson Syndrome 0
              Al Gazali Aziz Salem Syndrome 0
              Al-Raqad Syndrome 1
              Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 0
              Alazami Syndrome 2
              Alazami-Yuan Syndrome 3
              Alopecia Contractures Dwarfism Mental Retardation 0
              Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 0
              Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan 0
              Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 0
              Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation 0
              Amyotrophic Dystonic Paraplegia 0
              Ansell Bywaters Elderking Syndrome 0
              Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 0
              Arachnodactyly-Ataxia-Cataract-Aminoaciduria-Mental Retardation 0
              Arthrogryposis, Impaired Intellectual Development, and Seizures 2
              Au-Kline Syndrome 5
              Aughton Syndrome 0
              Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 0
              Autosomal Recessive Peripheral Neuropathy with or without Impaired Intellectual Development 2
              Ayme-Gripp syndrome 1
              BDV Syndrome 1
              BURATTI-HAREL SYNDROME 2
              Baraitser Rodeck Garner syndrome 0
              Baraitser-Winter syndrome + 13
              Basel-Vanagaite-Smirin-Yosef syndrome 1
              Battaglia Neri Syndrome 0
              Beaulieu-Boycott-Innes Syndrome 2
              Behr syndrome 1
              Bellini Chiumello Rimoldi Syndrome 0
              Biemond Syndrome II 0
              Birk-Barel syndrome 2
              Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 0
              Bohring Syndrome 2
              Boudhina Yedes Khiari syndrome 0
              Bresheck/Bresek Syndrome 0
              Brunner syndrome 3
              Bullous Dystrophy, Hereditary Macular Type 0
              C syndrome 1
              CAHMR Syndrome 0
              CATIFA Syndrome 1
              CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM 1
              CHIME syndrome 1
              Camera Marugo Cohen Syndrome 0
              Cantalamessa Baldini Ambrosi Syndrome 0
              Cantu Sanchez-Corona Fragoso Syndrome 0
              Cartwright Nelson Fryns Syndrome 0
              Cataracts, Ataxia, Short Stature, and Mental Retardation 0
              Cephalin Lipidosis 0
              Cerebral Visual Impairment and Intellectual Disability 17
              Cerebrooculonasal Syndrome 0
              Choroid Plexus Calcification with Mental Retardation 0
              Chromosome 18 Pericentric Inversion 0
              Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB 25
              Chromosome Xq28 Duplication Syndrome 20
              Chudley-Rozdilsky Syndrome 0
              Cochlear Deafness with Myopia and Intellectual Impairment 0
              Coffin Syndrome 1 0
              Cohen syndrome 37
              Cohen-Gibson Syndrome 1
              Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 0
              Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy 0
              Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation 0
              Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome 0
              Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation 0
              Congenital Muscular Dystrophy plus Mental Retardation 0
              Cornelia de Lange syndrome + 49
              Cortical Blindness, Retardation, and Postaxial Polydactyly 0
              Craniofaciofrontodigital Syndrome 0
              Craniosynostosis Mental Retardation Clefting Syndrome 0
              Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 0
              Cree Mental Retardation Syndrome 0
              Cri-du-Chat syndrome + 19
              Cubitus Valgus with Impaired Intellectual Development and Unusual Facies 0
              Curatolo Cilio Pessagno Syndrome 0
              Cutis Verticis Gyrata and Mental Deficiency 0
              Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality 0
              DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY 1
              DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES 2
              DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES 1
              DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES 1
              DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES 2
              DOORS syndrome 1
              Davis Lafer Syndrome 0
              De Sanctis-Cacchione syndrome 1
              Deafness, Congenital Onychodystrophy, Recessive Form 0
              Devriendt syndrome 0
              Diets-Jongmans Syndrome 1
              Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 0
              Distal Arthrogryposis, with Mental Retardation and Characteristic Facies 0
              Distal Transverse Limb Defects with Mental Retardation and Spasticity 0
              Down syndrome + 62
              Dubowitz syndrome 0
              Duchenne Muscular Dystrophy, Mental Retardation, and Absence of ERG B-wave 0
              Duker Weiss Siber syndrome 0
              Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone 0
              Dyggve-Melchior-Clausen disease + 2
              Dyskinesias, Seizures, and Intellectual Developmental Disorder 1
              Dysmyelination with Jaundice 0
              EAST syndrome 4
              Ectodermal Dysplasia, Mental Retardation, Syndactyly 0
              Elliott Ludman Teebi Syndrome 0
              Emanuel Syndrome 0
              Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 0
              Epilepsy Telangiectasia 0
              FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME 1
              Facial Abnormalities, Kyphoscoliosis, and Mental Retardation 0
              Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome 1
              Faciocardiomelic Syndrome 0
              Fallot Complex with Severe Mental and Growth Retardation 0
              Familial Convulsive Disorder with Prenatal or Early Onset 0
              Feingold Trainer Syndrome 0
              Feingold syndrome + 1
              Filippi syndrome 1
              Fine-Lubinsky Syndrome 3
              Fitzsimmons Walson Mellor Syndrome 0
              Fitzsimmons-McLachlan-Gilbert syndrome 0
              Focal Epilepsy with Speech Disorder and with or without Mental Retardation 2
              Fountain Syndrome 0
              GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES 1
              GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY 1
              Garret Tripp Syndrome 0
              Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones 0
              Genitopatellar Syndrome 17
              Gillespie syndrome 2
              Gingival Fibromatosis with Hypertrichosis and Mental Retardation 0
              Goniodysgenesis-Mental Retardation-Short Stature Syndrome 0
              Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 0
              Growth Mental Deficiency Syndrome of Myhre 2
              Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia 0
              Gurrieri Sammito Bellussi Syndrome 0
              HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME 1
              HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY + 2
              Hair Defect with Photosensitivity and Mental Retardation 0
              Hall Riggs Mental Retardation Syndrome 0
              Hamamy Syndrome 1
              Harel-Yoon syndrome 2
              Harrod Doman Keele Syndrome 0
              Haspeslagh Fryns Muelenaere Syndrome 0
              Hittner Hirsch Kreh Syndrome 4
              Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate 1
              Hooft Disease 0
              Hordnes Engebretsen Knudtson syndrome 0
              Hoxha-Aliu syndrome 1
              Hoyeraal Hreidarsson Syndrome 6
              Hunter-McAlpine Syndrome 0
              Hydroxylysinuria 0
              Hyperleucine-Isoleucinemia 0
              Hyperlysinemia due to Defect in Lysine Transport into Mitochondria 0
              Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 0
              Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum 0
              Hypospadias-Mental Retardation Syndrome 0
              INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA 1
              INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES 2
              INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD 1
              INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES 2
              INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES 1
              INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES 1
              INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM 1
              INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS 1
              INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES 1
              INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA 1
              INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY 1
              INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN 3
              INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA 1
              INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS 1
              INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS 1
              INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES 1
              INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES 1
              INTELLECTUAL DISABILITY, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS 1
              Ichthyosis and Male Hypogonadism 0
              Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 0
              Ichthyosis, Spastic Quadriplegia, and Mental Retardation 1
              Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 0
              Indolylacroyl Glycinuria with Mental Retardation 0
              Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development 1
              Infantile Hyperuricemia with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase 0
              Infantile Hypotonia with Psychomotor Retardation + 4
              Infantile Multisystem Neurologic Disease with Osseous Fragility 0
              Intellectual Developmental Disorder with Autism and Dysmorphic Facies 1
              Intellectual Developmental Disorder with Autism and Macrocephaly 2
              Intellectual Developmental Disorder with Autism and Speech Delay 1
              Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies 1
              Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis 2
              Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies 1
              Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay 2
              Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies 1
              Intellectual Developmental Disorder with Seizures and Language Delay 1
              Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy 2
              Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies 2
              Intellectual Developmental Disorder, Autosomal Dominant, FRA12A Type 2
              Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis 1
              Jagell Holmgren Hofer Syndrome 0
              Johanson-Blizzard syndrome 1
              Joubert Syndrome 27 1
              Joubert Syndrome 28 1
              Joubert syndrome 14 5
              Joubert syndrome 15 1
              Joubert syndrome 7 3
              Joubert syndrome 9 7
              KBG syndrome 49
              KINSSHIP syndrome 1
              KOHLSCHUTTER-TONZ SYNDROME-LIKE 1
              Kahrizi syndrome 1
              Kaler Garrity Stern Syndrome 0
              Kapur Toriello Syndrome 1
              Karandikar Maria Kamble Syndrome 0
              Katsantoni Papadakou Lagoyanni Syndrome 0
              Keppen-Lubinsky Syndrome 1
              Khalifa Graham Syndrome 0
              Kleefstra syndrome + 107
              Koone Rizzo Elias Syndrome 0
              Kosztolanyi Syndrome 0
              Kozlowski Ouvrier Syndrome 0
              Kozlowski Rafinski Klicharska Syndrome 0
              Kozlowski-Krajewska Syndrome 0
              Kuzniecky Andermann Syndrome 0
              LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME 1
              Lambert Syndrome 0
              Late-Onset Localized Junctional Epidermolysis Bullosa with Mental Retardation 0
              Lenz-Majewski hyperostotic dwarfism 1
              Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 0
              Li-Campeau Syndrome 2
              Lowry Maclean syndrome 0
              Lowry Wood Syndrome 1
              Lubani Al Saleh Teebi Syndrome 0
              Luscan-Lumish Syndrome 4
              Lynch Lee Murday syndrome 0
              MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT 1
              MASA syndrome 3
              MEND syndrome 1
              MOMES Syndrome 0
              MORM Syndrome 1
              Macrosomia Obesity Macrocephaly Ocular Abnormalities 0
              Male Hypogonadism with Mental Retardation and Skeletal Anomalies 0
              Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type 0
              Mandibulofacial Dysostosis with Mental Deficiency 1
              Marfanoid Mental Retardation Syndrome, Autosomal 97
              Marinesco-Sjogren syndrome 2
              McDonough Syndrome 0
              Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability 1
              Menke-Hennekam Syndrome + 2
              Mental Retardation Associated with Psoriasis 0
              Mental Retardation Mietens Weber Type 0
              Mental Retardation Smith Fineman Myers Type 0
              Mental Retardation Spasticity Ectrodactyly 0
              Mental Retardation Syndrome, Belgian Type 0
              Mental Retardation Wolff Type 1
              Mental Retardation and Distinctive Facial Features with or without Cardiac Defects 1
              Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 0
              Mental Retardation with Spastic Paraplegia 0
              Mental Retardation, Buenos Aires Type 0
              Mental Retardation, Joint Hypermobility, and Skin Laxity, with or without Metabolic Abnormalities 0
              Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block 0
              Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 0
              Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 0
              Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 0
              Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 0
              Mental and Growth Retardation with Amblyopia 0
              Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness 0
              Methionine Malabsorption Syndrome 0
              Microcephalic Primordial Dwarfism Toriello Type 0
              Microcephaly Deafness Syndrome 0
              Microcephaly Seizures Mental Retardation Heart Disorders 0
              Microcephaly Sparse Hair Mental Retardation Seizures 0
              Microcephaly with Cervical Spine Fusion Anomalies 0
              Microcephaly with Mental Retardation and Digital Anomalies 1
              Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 0
              Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation 0
              Microcephaly, Macrotia, and Mental Retardation 0
              Microphthalmia and Mental Deficiency 0
              Mirhosseini-Holmes-Walton Syndrome 0
              Mollica-Pavone-Antener Syndrome 0
              Morillo-Cucci Passarge Syndrome 0
              Mowat-Wilson syndrome 11
              Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability 4
              Myotonia with Skeletal Abnormalities and Mental Retardation 0
              N syndrome 0
              NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY 1
              NF1 Microduplication Syndrome 0
              Nephrogenic Diabetes Insipidus with Mental Retardation and Intracerebral Calcification 0
              Neuhauser Syndrome 0
              Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia 1
              Neurofaciodigitorenal Syndrome 0
              Nicolaides-Baraitser syndrome 4
              ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME 1
              Ohdo syndrome + 4
              Okur-Chung Neurodevelopmental Syndrome 1
              Oliver Syndrome 0
              Oliver-McFarlane syndrome 1
              Onychotrichodysplasia and Neutropenia 0
              Osteolysis Syndrome, Recessive 0
              POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME 2
              Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 0
              Palant Cleft Palate Syndrome 0
              Pallister W Syndrome 0
              Parkinson's disease 25 1
              Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV 0
              Pashayan Syndrome 0
              Patella Hypoplasia Mental Retardation 0
              Pavone Fiumara Rizzo Syndrome 0
              Perniola Krajewska Carnevale Syndrome 0
              Pfeiffer Kapferer Syndrome 0
              Pfeiffer Mayer Syndrome 0
              Pfeiffer Tietze Welte Syndrome 0
              Photogenic Epilepsy with Spastic Diplegia and Mental Retardation 0
              Pilotto Syndrome 0
              Pitt-Hopkins syndrome + 16
              Piussan Lenaerts Mathieu syndrome 0
              Prader-Willi syndrome + 17
              Primrose Syndrome 1
              Progressive Ophthalmoplegia with Scrotal Tongue and Mental Deficiency 0
              Progressive Vitiligo with Mental Retardation and Urethral Duplication 0
              Prolonged Bleeding Time, Brachydactyly, and Mental Retardation 0
              Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation 1
              Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness 0
              Pseudoaminopterin Syndrome 0
              Pseudouridinuria and Mental Defect 0
              Qazi Markouizos syndrome 0
              RADIO-TARTAGLIA SYNDROME 1
              RAUCH-STEINDL SYNDROME 1
              ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED 18
              Radioulnar Synostosis Retinal Pigment Abnormalities 0
              Rahman Syndrome 1
              Ramon Syndrome 0
              Ramos Arroyo Clark Syndrome 0
              Reardon Wilson Cavanagh Syndrome 0
              Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 0
              Richards-Rundle Syndrome 0
              Ritscher-Schinzel syndrome 2 1
              Robin Sequence with Distinctive Facial Appearance and Brachydactyly 0
              Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant 0
              Rubinstein-Taybi syndrome + 79
              Rud Syndrome 0
              Ruzicka Goerz Anton syndrome 0
              SATB2-associated syndrome 2
              SCARF Syndrome 0
              SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES 1
              SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY 1
              STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS 1
              Sammartino De Crecchio Syndrome 0
              Sao Paulo MCA/MR Syndrome 0
              Scaphocephaly, Maxillary Retrusion, and Impaired Intellectual Development 1
              Schaaf-Yang syndrome 3
              Schinzel Giedion syndrome 1
              Schofer Beetz Bohl Syndrome 0
              Scholte Syndrome 0
              Schrander-Stumpel Theunissen Hulsmans Syndrome 0
              Sclerosing Bone Dysplasia, Mental Retardation 0
              Seckel Syndrome 3 0
              Seckel syndrome 4 2
              Seemanova Lesny Syndrome 0
              Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration 0
              Shaheen Syndrome 1
              Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 1
              Short Stature, Impaired Intellectual Development, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 0
              Simpson-Golabi-Behmel syndrome type 1 4
              Singh Chhaparwal Dhanda Syndrome 0
              Skeletal Defects, Genital Hypoplasia, And Mental Retardation 1
              Sketetal Dysplasia Coarse Facies Mental Retardation 2
              Smith-Kingsmore Syndrome 3
              Snijders Blok-Campeau Syndrome 3
              Spastic Diplegia Infantile Type 0
              Spastic Paraplegia, Ataxia, and Mental Retardation 0
              Spastic Paraplegia, Epilepsy, Mental Retardation 0
              Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 0
              Spastic Paresis, Glaucoma, and Mental Retardation 0
              Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation 0
              Spinal Muscular Atrophy with Mental Retardation 0
              Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 0
              Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type 1
              Stevenson-Carey Syndrome 0
              Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly 1
              Sucrosuria, Hiatus Hernia and Mental Retardation 0
              Supernumerary Der(22)t(8;22) Syndrome 0
              THAUVIN-ROBINET-FAIVRE SYNDROME 1
              Takenouchi-Kosaki Syndrome 1
              Tamari Goodman Syndrome 0
              Temple-Baraitser syndrome 1
              Tenorio Syndrome 1
              Tetrasomy X 0
              Tolchin-Le Caignec Syndrome 1
              Tonoki Syndrome 0
              Trichodental Syndrome 0
              Tryptophanuria with Dwarfism 0
              Tsukahara Syndrome 1
              Ulnar Hypoplasia with Mental Retardation 0
              Upton Young Syndrome 0
              VERVERI-BRADY SYNDROME 1
              Van Bogaert-Hozay Syndrome 0
              Van Den Bosch Syndrome 0
              Van Maldergem syndrome + 2
              Vasquez Hurst Sotos Syndrome 0
              Verloes Gillerot Fryns Syndrome 0
              Viljoen Kallis Voges Syndrome 0
              Vissers-Bodmer syndrome 2
              Volcke Soekarman Syndrome 0
              WAGR syndrome + 3
              Waisman syndrome 1
              Walker Dyson Syndrome 0
              Warburg micro syndrome + 4
              Warburton Anyane Yeboa Syndrome 1
              Wiedemann Grosse Dibbern Syndrome 0
              Wiedemann Oldigs Oppermann Syndrome 0
              Wiedemann-Steiner syndrome 4
              Williams-Beuren syndrome + 32
              Winship Viljoen Leary Syndrome 0
              Woodhouse-Sakati syndrome 2
              Worster-Drought Syndrome 1
              X-Linked Intellectual Developmental Disorders + 821
              Yoon-Bellen neurodevelopmental syndrome 1
              Young Hughes Syndrome 0
              ZTTK syndrome 26
              Zazam Sheriff Phillips Syndrome 0
              Zechi-Ceide Syndrome 0
              Zerres Rietschel Majewski Syndrome 0
              acrodysostosis + 4
              alacrima, achalasia, and impaired intellectual development syndrome 52
              alopecia, neurologic defects, and endocrinopathy syndrome 1
              alopecia-mental retardation syndrome + 3
              alpha thalassemia-intellectual disability syndrome type 1 0
              autosomal dominant intellectual developmental disorder + 449
              autosomal recessive cutis laxa type III + 2
              autosomal recessive intellectual developmental disorder + 292
              autosomal recessive limb-girdle muscular dystrophy type 2P 24
              autosomal recessive spinocerebellar ataxia 12 2
              bilateral perisylvian polymicrogyria + 10
              blepharophimosis-impaired intellectual development syndrome 1
              brachycephaly, trichomegaly, and developmental delay 1
              branched-chain keto acid dehydrogenase kinase deficiency 38
              cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome + 4
              cerebellofaciodental syndrome 1
              cerebral cavernous malformation 2 2
              cerebral cavernous malformation 3 2
              cerebrocostomandibular syndrome 1
              cerebrooculofacioskeletal syndrome 2 2
              cerebrooculofacioskeletal syndrome 4 2
              chromosome 13q14 deletion syndrome 72
              chromosome 15q11.2 deletion syndrome 31
              chromosome 15q13.3 microdeletion syndrome 7
              chromosome 15q24 deletion syndrome 10
              chromosome 15q26-qter deletion syndrome 14
              chromosome 16p11.2 deletion syndrome, 593-kb 42
              chromosome 17p13.1 deletion syndrome 0
              chromosome 17q11.2 deletion syndrome 1
              chromosome 1q21.1 duplication syndrome 9
              chromosome 2q31.2 deletion syndrome 0
              chromosome 3q29 microdeletion syndrome 22
              chromosome 8q21.11 deletion syndrome 0
              cleft lip-palate-ectodermal dysplasia syndrome 1
              congenital disorder of deglycosylation 2 2
              congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 1
              congenital muscular dystrophy with cataracts and intellectual disability 1
              corpus callosum agenesis-abnormal genitalia syndrome 1
              craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome + 2
              deafness-dystonia-optic neuronopathy syndrome 2
              developmental and epileptic encephalopathy 9 30
              dicarboxylic aminoaciduria 1
              frontonasal dysplasia 3 1
              hereditary spastic paraplegia 11 11
              hereditary spastic paraplegia 14 0
              hereditary spastic paraplegia 18 1
              hereditary spastic paraplegia 32 0
              hypermethioninemia due to adenosine kinase deficiency 1
              hypoparathyroidism-retardation-dysmorphism syndrome 2
              hypotonia-cystinuria syndrome 4
              intellectual developmental disorder with cardiac arrhythmia 1
              intellectual developmental disorder with short stature and behavioral abnormalities 1
              intellectual disability and myopathy syndrome 1
              isolated cleft palate 4
              lissencephaly 3 + 3
              lissencephaly 4 3
              mandibulofacial dysostosis, Guion-Almeida type 1
              megalencephalic leukoencephalopathy with subcortical cysts 2B 1
              microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 1
              multiple benign circumferential skin creases on limbs + 2
              multiple congenital anomalies-hypotonia-seizures syndrome 3 1
              muscular dystrophy-dystroglycanopathy type B1 6
              muscular dystrophy-dystroglycanopathy type B14 1
              muscular dystrophy-dystroglycanopathy type B2 1
              muscular dystrophy-dystroglycanopathy type B3 2
              muscular dystrophy-dystroglycanopathy type B6 12
              neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities 19
              non-syndromic intellectual disability + 54
              nonprogressive cerebellar ataxia with mental retardation 17
              optic atrophy 10 1
              parastremmatic dwarfism 1
              photosensitive trichothiodystrophy 1 3
              spastic ataxia + 84
              spondyloepimetaphyseal dysplasia, Genevieve-type 2
              spondyloepiphyseal dysplasia tarda with intellectual disability 0
              spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability 0
              spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis 1
              syndromic intellectual disability + 759
              temtamy preaxial brachydactyly syndrome 1
              uveal coloboma-cleft lip and palate-intellectual disability 1
    Path 2
    Term Annotations click to browse term
      disease 19050
        disease of anatomical entity 18384
          nervous system disease 14257
            central nervous system disease 12589
              brain disease 11814
                disease of mental health 8411
                  developmental disorder of mental health 5640
                    specific developmental disorder 4598
                      intellectual disability 4378
                        AGAT deficiency 17
                        AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency 1
                        AMED syndrome 2
                        AMME complex 0
                        ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION 1
                        Absent Eyebrows and Eyelashes with Mental Retardation 0
                        Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations 0
                        Akesson Syndrome 0
                        Al Gazali Aziz Salem Syndrome 0
                        Al-Raqad Syndrome 1
                        Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 0
                        Alazami Syndrome 2
                        Alazami-Yuan Syndrome 3
                        Alopecia Contractures Dwarfism Mental Retardation 0
                        Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 0
                        Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan 0
                        Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 0
                        Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation 0
                        Amyotrophic Dystonic Paraplegia 0
                        Ansell Bywaters Elderking Syndrome 0
                        Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 0
                        Arachnodactyly-Ataxia-Cataract-Aminoaciduria-Mental Retardation 0
                        Arthrogryposis, Impaired Intellectual Development, and Seizures 2
                        Au-Kline Syndrome 5
                        Aughton Syndrome 0
                        Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 0
                        Autosomal Recessive Peripheral Neuropathy with or without Impaired Intellectual Development 2
                        Ayme-Gripp syndrome 1
                        BDV Syndrome 1
                        BURATTI-HAREL SYNDROME 2
                        Baraitser Rodeck Garner syndrome 0
                        Baraitser-Winter syndrome + 13
                        Basel-Vanagaite-Smirin-Yosef syndrome 1
                        Battaglia Neri Syndrome 0
                        Beaulieu-Boycott-Innes Syndrome 2
                        Behr syndrome 1
                        Bellini Chiumello Rimoldi Syndrome 0
                        Biemond Syndrome II 0
                        Birk-Barel syndrome 2
                        Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 0
                        Bohring Syndrome 2
                        Boudhina Yedes Khiari syndrome 0
                        Bresheck/Bresek Syndrome 0
                        Brunner syndrome 3
                        Bullous Dystrophy, Hereditary Macular Type 0
                        C syndrome 1
                        CAHMR Syndrome 0
                        CATIFA Syndrome 1
                        CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM 1
                        CHIME syndrome 1
                        Camera Marugo Cohen Syndrome 0
                        Cantalamessa Baldini Ambrosi Syndrome 0
                        Cantu Sanchez-Corona Fragoso Syndrome 0
                        Cartwright Nelson Fryns Syndrome 0
                        Cataracts, Ataxia, Short Stature, and Mental Retardation 0
                        Cephalin Lipidosis 0
                        Cerebral Visual Impairment and Intellectual Disability 17
                        Cerebrooculonasal Syndrome 0
                        Choroid Plexus Calcification with Mental Retardation 0
                        Chromosome 18 Pericentric Inversion 0
                        Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB 25
                        Chromosome Xq28 Duplication Syndrome 20
                        Chudley-Rozdilsky Syndrome 0
                        Cochlear Deafness with Myopia and Intellectual Impairment 0
                        Coffin Syndrome 1 0
                        Cohen syndrome 37
                        Cohen-Gibson Syndrome 1
                        Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 0
                        Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy 0
                        Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation 0
                        Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome 0
                        Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation 0
                        Congenital Muscular Dystrophy plus Mental Retardation 0
                        Cornelia de Lange syndrome + 49
                        Cortical Blindness, Retardation, and Postaxial Polydactyly 0
                        Craniofaciofrontodigital Syndrome 0
                        Craniosynostosis Mental Retardation Clefting Syndrome 0
                        Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 0
                        Cree Mental Retardation Syndrome 0
                        Cri-du-Chat syndrome + 19
                        Cubitus Valgus with Impaired Intellectual Development and Unusual Facies 0
                        Curatolo Cilio Pessagno Syndrome 0
                        Cutis Verticis Gyrata and Mental Deficiency 0
                        Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality 0
                        DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY 1
                        DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES 2
                        DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES 1
                        DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES 1
                        DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES 2
                        DOORS syndrome 1
                        Davis Lafer Syndrome 0
                        De Sanctis-Cacchione syndrome 1
                        Deafness, Congenital Onychodystrophy, Recessive Form 0
                        Devriendt syndrome 0
                        Diets-Jongmans Syndrome 1
                        Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 0
                        Distal Arthrogryposis, with Mental Retardation and Characteristic Facies 0
                        Distal Transverse Limb Defects with Mental Retardation and Spasticity 0
                        Down syndrome + 62
                        Dubowitz syndrome 0
                        Duchenne Muscular Dystrophy, Mental Retardation, and Absence of ERG B-wave 0
                        Duker Weiss Siber syndrome 0
                        Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone 0
                        Dyggve-Melchior-Clausen disease + 2
                        Dyskinesias, Seizures, and Intellectual Developmental Disorder 1
                        Dysmyelination with Jaundice 0
                        EAST syndrome 4
                        Ectodermal Dysplasia, Mental Retardation, Syndactyly 0
                        Elliott Ludman Teebi Syndrome 0
                        Emanuel Syndrome 0
                        Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 0
                        Epilepsy Telangiectasia 0
                        FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME 1
                        Facial Abnormalities, Kyphoscoliosis, and Mental Retardation 0
                        Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome 1
                        Faciocardiomelic Syndrome 0
                        Fallot Complex with Severe Mental and Growth Retardation 0
                        Familial Convulsive Disorder with Prenatal or Early Onset 0
                        Feingold Trainer Syndrome 0
                        Feingold syndrome + 1
                        Filippi syndrome 1
                        Fine-Lubinsky Syndrome 3
                        Fitzsimmons Walson Mellor Syndrome 0
                        Fitzsimmons-McLachlan-Gilbert syndrome 0
                        Focal Epilepsy with Speech Disorder and with or without Mental Retardation 2
                        Fountain Syndrome 0
                        GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES 1
                        GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY 1
                        Garret Tripp Syndrome 0
                        Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones 0
                        Genitopatellar Syndrome 17
                        Gillespie syndrome 2
                        Gingival Fibromatosis with Hypertrichosis and Mental Retardation 0
                        Goniodysgenesis-Mental Retardation-Short Stature Syndrome 0
                        Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 0
                        Growth Mental Deficiency Syndrome of Myhre 2
                        Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia 0
                        Gurrieri Sammito Bellussi Syndrome 0
                        HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME 1
                        HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY + 2
                        Hair Defect with Photosensitivity and Mental Retardation 0
                        Hall Riggs Mental Retardation Syndrome 0
                        Hamamy Syndrome 1
                        Harel-Yoon syndrome 2
                        Harrod Doman Keele Syndrome 0
                        Haspeslagh Fryns Muelenaere Syndrome 0
                        Hittner Hirsch Kreh Syndrome 4
                        Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate 1
                        Hooft Disease 0
                        Hordnes Engebretsen Knudtson syndrome 0
                        Hoxha-Aliu syndrome 1
                        Hoyeraal Hreidarsson Syndrome 6
                        Hunter-McAlpine Syndrome 0
                        Hydroxylysinuria 0
                        Hyperleucine-Isoleucinemia 0
                        Hyperlysinemia due to Defect in Lysine Transport into Mitochondria 0
                        Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 0
                        Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum 0
                        Hypospadias-Mental Retardation Syndrome 0
                        INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA 1
                        INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES 2
                        INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD 1
                        INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES 2
                        INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES 1
                        INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES 1
                        INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM 1
                        INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS 1
                        INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES 1
                        INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA 1
                        INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY 1
                        INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN 3
                        INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA 1
                        INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS 1
                        INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS 1
                        INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES 1
                        INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES 1
                        INTELLECTUAL DISABILITY, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS 1
                        Ichthyosis and Male Hypogonadism 0
                        Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 0
                        Ichthyosis, Spastic Quadriplegia, and Mental Retardation 1
                        Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 0
                        Indolylacroyl Glycinuria with Mental Retardation 0
                        Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development 1
                        Infantile Hyperuricemia with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase 0
                        Infantile Hypotonia with Psychomotor Retardation + 4
                        Infantile Multisystem Neurologic Disease with Osseous Fragility 0
                        Intellectual Developmental Disorder with Autism and Dysmorphic Facies 1
                        Intellectual Developmental Disorder with Autism and Macrocephaly 2
                        Intellectual Developmental Disorder with Autism and Speech Delay 1
                        Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies 1
                        Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis 2
                        Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies 1
                        Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay 2
                        Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies 1
                        Intellectual Developmental Disorder with Seizures and Language Delay 1
                        Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy 2
                        Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies 2
                        Intellectual Developmental Disorder, Autosomal Dominant, FRA12A Type 2
                        Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis 1
                        Jagell Holmgren Hofer Syndrome 0
                        Johanson-Blizzard syndrome 1
                        Joubert Syndrome 27 1
                        Joubert Syndrome 28 1
                        Joubert syndrome 14 5
                        Joubert syndrome 15 1
                        Joubert syndrome 7 3
                        Joubert syndrome 9 7
                        KBG syndrome 49
                        KINSSHIP syndrome 1
                        KOHLSCHUTTER-TONZ SYNDROME-LIKE 1
                        Kahrizi syndrome 1
                        Kaler Garrity Stern Syndrome 0
                        Kapur Toriello Syndrome 1
                        Karandikar Maria Kamble Syndrome 0
                        Katsantoni Papadakou Lagoyanni Syndrome 0
                        Keppen-Lubinsky Syndrome 1
                        Khalifa Graham Syndrome 0
                        Kleefstra syndrome + 107
                        Koone Rizzo Elias Syndrome 0
                        Kosztolanyi Syndrome 0
                        Kozlowski Ouvrier Syndrome 0
                        Kozlowski Rafinski Klicharska Syndrome 0
                        Kozlowski-Krajewska Syndrome 0
                        Kuzniecky Andermann Syndrome 0
                        LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME 1
                        Lambert Syndrome 0
                        Late-Onset Localized Junctional Epidermolysis Bullosa with Mental Retardation 0
                        Lenz-Majewski hyperostotic dwarfism 1
                        Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 0
                        Li-Campeau Syndrome 2
                        Lowry Maclean syndrome 0
                        Lowry Wood Syndrome 1
                        Lubani Al Saleh Teebi Syndrome 0
                        Luscan-Lumish Syndrome 4
                        Lynch Lee Murday syndrome 0
                        MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT 1
                        MASA syndrome 3
                        MEND syndrome 1
                        MOMES Syndrome 0
                        MORM Syndrome 1
                        Macrosomia Obesity Macrocephaly Ocular Abnormalities 0
                        Male Hypogonadism with Mental Retardation and Skeletal Anomalies 0
                        Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type 0
                        Mandibulofacial Dysostosis with Mental Deficiency 1
                        Marfanoid Mental Retardation Syndrome, Autosomal 97
                        Marinesco-Sjogren syndrome 2
                        McDonough Syndrome 0
                        Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability 1
                        Menke-Hennekam Syndrome + 2
                        Mental Retardation Associated with Psoriasis 0
                        Mental Retardation Mietens Weber Type 0
                        Mental Retardation Smith Fineman Myers Type 0
                        Mental Retardation Spasticity Ectrodactyly 0
                        Mental Retardation Syndrome, Belgian Type 0
                        Mental Retardation Wolff Type 1
                        Mental Retardation and Distinctive Facial Features with or without Cardiac Defects 1
                        Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 0
                        Mental Retardation with Spastic Paraplegia 0
                        Mental Retardation, Buenos Aires Type 0
                        Mental Retardation, Joint Hypermobility, and Skin Laxity, with or without Metabolic Abnormalities 0
                        Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block 0
                        Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 0
                        Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 0
                        Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 0
                        Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 0
                        Mental and Growth Retardation with Amblyopia 0
                        Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness 0
                        Methionine Malabsorption Syndrome 0
                        Microcephalic Primordial Dwarfism Toriello Type 0
                        Microcephaly Deafness Syndrome 0
                        Microcephaly Seizures Mental Retardation Heart Disorders 0
                        Microcephaly Sparse Hair Mental Retardation Seizures 0
                        Microcephaly with Cervical Spine Fusion Anomalies 0
                        Microcephaly with Mental Retardation and Digital Anomalies 1
                        Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 0
                        Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation 0
                        Microcephaly, Macrotia, and Mental Retardation 0
                        Microphthalmia and Mental Deficiency 0
                        Mirhosseini-Holmes-Walton Syndrome 0
                        Mollica-Pavone-Antener Syndrome 0
                        Morillo-Cucci Passarge Syndrome 0
                        Mowat-Wilson syndrome 11
                        Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability 4
                        Myotonia with Skeletal Abnormalities and Mental Retardation 0
                        N syndrome 0
                        NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY 1
                        NF1 Microduplication Syndrome 0
                        Nephrogenic Diabetes Insipidus with Mental Retardation and Intracerebral Calcification 0
                        Neuhauser Syndrome 0
                        Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia 1
                        Neurofaciodigitorenal Syndrome 0
                        Nicolaides-Baraitser syndrome 4
                        ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME 1
                        Ohdo syndrome + 4
                        Okur-Chung Neurodevelopmental Syndrome 1
                        Oliver Syndrome 0
                        Oliver-McFarlane syndrome 1
                        Onychotrichodysplasia and Neutropenia 0
                        Osteolysis Syndrome, Recessive 0
                        POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME 2
                        Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 0
                        Palant Cleft Palate Syndrome 0
                        Pallister W Syndrome 0
                        Parkinson's disease 25 1
                        Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV 0
                        Pashayan Syndrome 0
                        Patella Hypoplasia Mental Retardation 0
                        Pavone Fiumara Rizzo Syndrome 0
                        Perniola Krajewska Carnevale Syndrome 0
                        Pfeiffer Kapferer Syndrome 0
                        Pfeiffer Mayer Syndrome 0
                        Pfeiffer Tietze Welte Syndrome 0
                        Photogenic Epilepsy with Spastic Diplegia and Mental Retardation 0
                        Pilotto Syndrome 0
                        Pitt-Hopkins syndrome + 16
                        Piussan Lenaerts Mathieu syndrome 0
                        Prader-Willi syndrome + 17
                        Primrose Syndrome 1
                        Progressive Ophthalmoplegia with Scrotal Tongue and Mental Deficiency 0
                        Progressive Vitiligo with Mental Retardation and Urethral Duplication 0
                        Prolonged Bleeding Time, Brachydactyly, and Mental Retardation 0
                        Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation 1
                        Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness 0
                        Pseudoaminopterin Syndrome 0
                        Pseudouridinuria and Mental Defect 0
                        Qazi Markouizos syndrome 0
                        RADIO-TARTAGLIA SYNDROME 1
                        RAUCH-STEINDL SYNDROME 1
                        ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED 18
                        Radioulnar Synostosis Retinal Pigment Abnormalities 0
                        Rahman Syndrome 1
                        Ramon Syndrome 0
                        Ramos Arroyo Clark Syndrome 0
                        Reardon Wilson Cavanagh Syndrome 0
                        Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 0
                        Richards-Rundle Syndrome 0
                        Ritscher-Schinzel syndrome 2 1
                        Robin Sequence with Distinctive Facial Appearance and Brachydactyly 0
                        Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant 0
                        Rubinstein-Taybi syndrome + 79
                        Rud Syndrome 0
                        Ruzicka Goerz Anton syndrome 0
                        SATB2-associated syndrome 2
                        SCARF Syndrome 0
                        SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES 1
                        SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY 1
                        STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS 1
                        Sammartino De Crecchio Syndrome 0
                        Sao Paulo MCA/MR Syndrome 0
                        Scaphocephaly, Maxillary Retrusion, and Impaired Intellectual Development 1
                        Schaaf-Yang syndrome 3
                        Schinzel Giedion syndrome 1
                        Schofer Beetz Bohl Syndrome 0
                        Scholte Syndrome 0
                        Schrander-Stumpel Theunissen Hulsmans Syndrome 0
                        Sclerosing Bone Dysplasia, Mental Retardation 0
                        Seckel Syndrome 3 0
                        Seckel syndrome 4 2
                        Seemanova Lesny Syndrome 0
                        Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration 0
                        Shaheen Syndrome 1
                        Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 1
                        Short Stature, Impaired Intellectual Development, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 0
                        Simpson-Golabi-Behmel syndrome type 1 4
                        Singh Chhaparwal Dhanda Syndrome 0
                        Skeletal Defects, Genital Hypoplasia, And Mental Retardation 1
                        Sketetal Dysplasia Coarse Facies Mental Retardation 2
                        Smith-Kingsmore Syndrome 3
                        Snijders Blok-Campeau Syndrome 3
                        Spastic Diplegia Infantile Type 0
                        Spastic Paraplegia, Ataxia, and Mental Retardation 0
                        Spastic Paraplegia, Epilepsy, Mental Retardation 0
                        Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 0
                        Spastic Paresis, Glaucoma, and Mental Retardation 0
                        Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation 0
                        Spinal Muscular Atrophy with Mental Retardation 0
                        Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 0
                        Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type 1
                        Stevenson-Carey Syndrome 0
                        Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly 1
                        Sucrosuria, Hiatus Hernia and Mental Retardation 0
                        Supernumerary Der(22)t(8;22) Syndrome 0
                        THAUVIN-ROBINET-FAIVRE SYNDROME 1
                        Takenouchi-Kosaki Syndrome 1
                        Tamari Goodman Syndrome 0
                        Temple-Baraitser syndrome 1
                        Tenorio Syndrome 1
                        Tetrasomy X 0
                        Tolchin-Le Caignec Syndrome 1
                        Tonoki Syndrome 0
                        Trichodental Syndrome 0
                        Tryptophanuria with Dwarfism 0
                        Tsukahara Syndrome 1
                        Ulnar Hypoplasia with Mental Retardation 0
                        Upton Young Syndrome 0
                        VERVERI-BRADY SYNDROME 1
                        Van Bogaert-Hozay Syndrome 0
                        Van Den Bosch Syndrome 0
                        Van Maldergem syndrome + 2
                        Vasquez Hurst Sotos Syndrome 0
                        Verloes Gillerot Fryns Syndrome 0
                        Viljoen Kallis Voges Syndrome 0
                        Vissers-Bodmer syndrome 2
                        Volcke Soekarman Syndrome 0
                        WAGR syndrome + 3
                        Waisman syndrome 1
                        Walker Dyson Syndrome 0
                        Warburg micro syndrome + 4
                        Warburton Anyane Yeboa Syndrome 1
                        Wiedemann Grosse Dibbern Syndrome 0
                        Wiedemann Oldigs Oppermann Syndrome 0
                        Wiedemann-Steiner syndrome 4
                        Williams-Beuren syndrome + 32
                        Winship Viljoen Leary Syndrome 0
                        Woodhouse-Sakati syndrome 2
                        Worster-Drought Syndrome 1
                        X-Linked Intellectual Developmental Disorders + 821
                        Yoon-Bellen neurodevelopmental syndrome 1
                        Young Hughes Syndrome 0
                        ZTTK syndrome 26
                        Zazam Sheriff Phillips Syndrome 0
                        Zechi-Ceide Syndrome 0
                        Zerres Rietschel Majewski Syndrome 0
                        acrodysostosis + 4
                        alacrima, achalasia, and impaired intellectual development syndrome 52
                        alopecia, neurologic defects, and endocrinopathy syndrome 1
                        alopecia-mental retardation syndrome + 3
                        alpha thalassemia-intellectual disability syndrome type 1 0
                        autosomal dominant intellectual developmental disorder + 449
                        autosomal recessive cutis laxa type III + 2
                        autosomal recessive intellectual developmental disorder + 292
                        autosomal recessive limb-girdle muscular dystrophy type 2P 24
                        autosomal recessive spinocerebellar ataxia 12 2
                        bilateral perisylvian polymicrogyria + 10
                        blepharophimosis-impaired intellectual development syndrome 1
                        brachycephaly, trichomegaly, and developmental delay 1
                        branched-chain keto acid dehydrogenase kinase deficiency 38
                        cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome + 4
                        cerebellofaciodental syndrome 1
                        cerebral cavernous malformation 2 2
                        cerebral cavernous malformation 3 2
                        cerebrocostomandibular syndrome 1
                        cerebrooculofacioskeletal syndrome 2 2
                        cerebrooculofacioskeletal syndrome 4 2
                        chromosome 13q14 deletion syndrome 72
                        chromosome 15q11.2 deletion syndrome 31
                        chromosome 15q13.3 microdeletion syndrome 7
                        chromosome 15q24 deletion syndrome 10
                        chromosome 15q26-qter deletion syndrome 14
                        chromosome 16p11.2 deletion syndrome, 593-kb 42
                        chromosome 17p13.1 deletion syndrome 0
                        chromosome 17q11.2 deletion syndrome 1
                        chromosome 1q21.1 duplication syndrome 9
                        chromosome 2q31.2 deletion syndrome 0
                        chromosome 3q29 microdeletion syndrome 22
                        chromosome 8q21.11 deletion syndrome 0
                        cleft lip-palate-ectodermal dysplasia syndrome 1
                        congenital disorder of deglycosylation 2 2
                        congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 1
                        congenital muscular dystrophy with cataracts and intellectual disability 1
                        corpus callosum agenesis-abnormal genitalia syndrome 1
                        craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome + 2
                        deafness-dystonia-optic neuronopathy syndrome 2
                        developmental and epileptic encephalopathy 9 30
                        dicarboxylic aminoaciduria 1
                        frontonasal dysplasia 3 1
                        hereditary spastic paraplegia 11 11
                        hereditary spastic paraplegia 14 0
                        hereditary spastic paraplegia 18 1
                        hereditary spastic paraplegia 32 0
                        hypermethioninemia due to adenosine kinase deficiency 1
                        hypoparathyroidism-retardation-dysmorphism syndrome 2
                        hypotonia-cystinuria syndrome 4
                        intellectual developmental disorder with cardiac arrhythmia 1
                        intellectual developmental disorder with short stature and behavioral abnormalities 1
                        intellectual disability and myopathy syndrome 1
                        isolated cleft palate 4
                        lissencephaly 3 + 3
                        lissencephaly 4 3
                        mandibulofacial dysostosis, Guion-Almeida type 1
                        megalencephalic leukoencephalopathy with subcortical cysts 2B 1
                        microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 1
                        multiple benign circumferential skin creases on limbs + 2
                        multiple congenital anomalies-hypotonia-seizures syndrome 3 1
                        muscular dystrophy-dystroglycanopathy type B1 6
                        muscular dystrophy-dystroglycanopathy type B14 1
                        muscular dystrophy-dystroglycanopathy type B2 1
                        muscular dystrophy-dystroglycanopathy type B3 2
                        muscular dystrophy-dystroglycanopathy type B6 12
                        neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities 19
                        non-syndromic intellectual disability + 54
                        nonprogressive cerebellar ataxia with mental retardation 17
                        optic atrophy 10 1
                        parastremmatic dwarfism 1
                        photosensitive trichothiodystrophy 1 3
                        spastic ataxia + 84
                        spondyloepimetaphyseal dysplasia, Genevieve-type 2
                        spondyloepiphyseal dysplasia tarda with intellectual disability 0
                        spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability 0
                        spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis 1
                        syndromic intellectual disability + 759
                        temtamy preaxial brachydactyly syndrome 1
                        uveal coloboma-cleft lip and palate-intellectual disability 1
    paths to the root