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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:Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
Synonyms:exact_synonym: INTELLECTUAL DEFICIENCY;   INTELLECTUAL FUNCTIONING DISABILITY;   Idiocy;   Intellectual Development Disorder;   Intellectual Disabilities;   Mental Deficiencies;   Mental Deficiency;   Mental Retardation;   Psychosocial Mental Retardation;   intellectual development disorders;   psychosocial mental retardations
 narrow_synonym: AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY;   INTELLECTUAL DISABILITY (MODERATE);   INTELLECTUAL DISABILITY, RECESSIVE;   INTELLECTUAL DISABILITY, SEVERE;   Intellectual disability syndrome;   Intellectual disability, mild;   MODERATE INTELLECTUAL DEFICIENCY;   intellectual disability with severe speech impairment;   intellectual disability, dominant;   severe intellectual deficiency;   syndromic intellectual disability
 primary_id: MESH:D008607
 xref: NCI:C84392;   NCI:C97250
For additional species annotation, visit the Alliance of Genome Resources.


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  disease 16023
    Developmental Diseases 9537
      Neurodevelopmental Disorders 4619
        intellectual disability 2166
          16p11.2 Deletion Syndrome 39
          AGAT deficiency 9
          AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency 1
          AMME complex 1
          ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION 0
          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
          Alacrima, Achalasia, and Mental Retardation Syndrome 1
          Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 0
          Alazami Syndrome 1
          Alazami-Yuan Syndrome 1
          Alopecia Contractures Dwarfism Mental Retardation 0
          Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 0
          Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 1
          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, Mental Retardation, and Seizures 1
          Au-Kline Syndrome 1
          Aughton Syndrome 0
          Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 0
          Ayme-Gripp syndrome 1
          Baraitser Rodeck Garner syndrome 0
          Baraitser-Winter syndrome + 2
          Basel-Vanagaite-Smirin-Yosef syndrome 1
          Battaglia Neri Syndrome 0
          Beaulieu-Boycott-Innes Syndrome 1
          Behr syndrome 1
          Bellini Chiumello Rimoldi Syndrome 0
          Biemond Syndrome II 0
          Birk-Barel syndrome 1
          Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 0
          Bohring Syndrome 2
          Bosch-Boonstra-Schaaf Optic Atrophy Syndrome 4
          Boudhina Yedes Khiari syndrome 0
          Brachycephaly, Trichomegaly, and Developmental Delay 1
          Bresheck/Bresek Syndrome 0
          Brunner syndrome 1
          Bullous Dystrophy, Hereditary Macular Type 0
          C syndrome 1
          CAHMR Syndrome 0
          CATIFA Syndrome 2
          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
          Cerebellofaciodental Syndrome 1
          Cerebral Visual Impairment and Intellectual Disability 18
          Cerebrofaciothoracic Dysplasia 1
          Cerebrooculofacioskeletal Syndrome 2 1
          Cerebrooculofacioskeletal Syndrome 4 2
          Cerebrooculonasal Syndrome 0
          Choroid Plexus Calcification with Mental Retardation 0
          Chromosome 18 Pericentric Inversion 0
          Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB 0
          Chromosome Xq28 Duplication Syndrome 0
          Chudley-Rozdilsky Syndrome 0
          Cochlear Deafness with Myopia and Intellectual Impairment 0
          Coffin Syndrome 1 0
          Cohen syndrome 2
          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 Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder 1
          Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, 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
          Congenital Symmetric Circumferential Skin Creases + 2
          Cornelia de Lange syndrome + 17
          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 + 7
          Cubitus Valgus with Mental Retardation 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
          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 + 55
          Dubowitz syndrome 0
          Duchenne Muscular Dystrophy, Mental Retardation, and Absence of ERG B-wave 1
          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 1
          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
          Epilepsy, Hearing Loss, and Mental Retardation 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 0
          Fitzsimmons Walson Mellor Syndrome 0
          Fitzsimmons-McLachlan-Gilbert syndrome 0
          Focal Epilepsy with Speech Disorder and with or without Mental Retardation 7
          Fountain Syndrome 0
          Frontonasal Dysplasia 3 1
          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 2
          Gillespie syndrome 1
          Gingival Fibromatosis with Hypertrichosis and Mental Retardation 0
          Glycosylphosphatidylinositol Biosynthesis Defect 16 2
          Goniodysgenesis-Mental Retardation-Short Stature Syndrome 0
          Growth Deficiency and Mental Retardation with Facial Dysmorphism 4
          Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 0
          Growth Mental Deficiency Syndrome of Myhre 1
          Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia 0
          Gurrieri Sammito Bellussi Syndrome 0
          Hair Defect with Photosensitivity and Mental Retardation 0
          Hall Riggs Mental Retardation Syndrome 0
          Hamamy Syndrome 1
          Harel-Yoon Syndrome 1
          Harrod Doman Keele Syndrome 0
          Haspeslagh Fryns Muelenaere Syndrome 0
          Hittner Hirsch Kreh Syndrome 1
          Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate 1
          Hooft Disease 0
          Hordnes Engebretsen Knudtson syndrome 0
          Hoyeraal Hreidarsson Syndrome 3
          Hunter-McAlpine Syndrome 0
          Hydroxylysinuria 0
          Hyperleucine-Isoleucinemia 0
          Hyperlysinemia due to Defect in Lysine Transport into Mitochondria 0
          Hyperphosphatasia with Mental Retardation + 53
          Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 0
          Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum 0
          Hypomagnesemia, Seizures, and Mental Retardation + 2
          Hypospadias-Mental Retardation Syndrome 0
          INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA 1
          INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA 1
          INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES 1
          INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS 1
          INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD 1
          INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES 1
          INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES 1
          INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES 1
          INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES 1
          INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA 1
          INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN 1
          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 SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES 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 Abnormal Behavior, Microcephaly, and Short Stature 1
          Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies 0
          Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies 1
          Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay 1
          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, Autism, and Dysmorphic Facies 1
          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 3
          Joubert syndrome 15 1
          Joubert syndrome 7 3
          Joubert syndrome 9 5
          KBG syndrome 5
          Kahrizi syndrome 1
          Kaler Garrity Stern Syndrome 0
          Kapur Toriello Syndrome 0
          Karandikar Maria Kamble Syndrome 0
          Kat6a Syndrome 1
          Katsantoni Papadakou Lagoyanni Syndrome 0
          Keppen-Lubinsky Syndrome 1
          Khalifa Graham Syndrome 0
          Kleefstra syndrome + 76
          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
          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
          Light Fixation Seizure Syndrome 0
          Lissencephaly 3 + 3
          Lissencephaly 4 3
          Lowry Maclean syndrome 0
          Lowry Wood Syndrome 1
          Lubani Al Saleh Teebi Syndrome 0
          Luscan-Lumish syndrome 1
          Lynch Lee Murday syndrome 0
          MASA syndrome 1
          MEND syndrome 1
          MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS 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 96
          Marinesco-Sjogren syndrome 1
          Martsolf 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 0
          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, Autosomal Recessive 8 0
          Mental Retardation, Buenos Aires Type 0
          Mental Retardation, Fra12a Type 2
          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, Short Stature, Facial Anomalies, and Joint Dislocations 1
          Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 0
          Mental Retardation, X-Linked + 664
          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 Cervical Spine Fusion Anomalies 0
          Microcephaly Deafness Syndrome 0
          Microcephaly Seizures Mental Retardation Heart Disorders 0
          Microcephaly Sparse Hair Mental Retardation Seizures 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 9
          Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability 4
          Muscular Dystrophy-Dystroglycanopathy (Congenital with Impaired Intellectual Development), type B, 14 2
          Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 1 1
          Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 2 1
          Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 3 2
          Myotonia with Skeletal Abnormalities and Mental Retardation 0
          N syndrome 0
          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
          Ohdo syndrome + 3
          Okur-Chung Neurodevelopmental Syndrome 1
          Oliver Syndrome 0
          Oliver-McFarlane syndrome 1
          Onychotrichodysplasia and Neutropenia 0
          Osteolysis Syndrome, Recessive 0
          PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT 1
          POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME 1
          Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 0
          Palant Cleft Palate Syndrome 0
          Pallister W Syndrome 0
          Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV 0
          Pashayan Syndrome 0
          Patella Hypoplasia Mental Retardation 0
          Pavone Fiumara Rizzo Syndrome 0
          Perisylvian Syndrome + 3
          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 + 6
          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 1
          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
          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 1
          Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked 1
          Rubinstein-Taybi syndrome + 25
          Rud Syndrome 0
          Ruzicka Goerz Anton syndrome 0
          SATB2-associated syndrome 1
          SCARF Syndrome 0
          SIFRIM-HITZ-WEISS SYNDROME 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 Mental Retardation 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, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 0
          Simpson-Golabi-Behmel syndrome type 1 3
          Singh Chhaparwal Dhanda Syndrome 0
          Skeletal Defects, Genital Hypoplasia, And Mental Retardation 1
          Sketetal Dysplasia Coarse Facies Mental Retardation 2
          Smith-Kingsmore Syndrome 1
          Snijders Blok-Campeau Syndrome 1
          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
          Spondyloepiphyseal Dysplasia Tarda with Mental Retardation 0
          Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 0
          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 0
          THAUVIN-ROBINET-FAIVRE SYNDROME 1
          Takenouchi-Kosaki Syndrome 1
          Tamari Goodman Syndrome 0
          Tatton-Brown-Rahman Syndrome 3
          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
          Volcke Soekarman Syndrome 0
          WAGR syndrome + 3
          Waisman syndrome 1
          Walker Dyson Syndrome 0
          Warburg micro syndrome + 5
          Warburton Anyane Yeboa Syndrome 0
          Wiedemann Grosse Dibbern Syndrome 0
          Wiedemann Oldigs Oppermann Syndrome 0
          Williams-Beuren syndrome + 32
          Winship Viljoen Leary Syndrome 0
          Woodhouse-Sakati Syndrome 2
          Worster-Drought Syndrome 1
          Yorifuji Okuno Syndrome 0
          Young Hughes Syndrome 0
          ZTTK Syndrome 1
          Zazam Sheriff Phillips Syndrome 0
          Zechi-Ceide Syndrome 0
          Zerres Rietschel Majewski Syndrome 0
          acrodysostosis + 4
          alopecia-mental retardation syndrome + 2
          alpha thalassemia-intellectual disability syndrome type 1 0
          autosomal dominant mental retardation 50 1
          autosomal recessive cutis laxa type III + 2
          autosomal recessive limb-girdle muscular dystrophy type 2P 13
          autosomal recessive spinocerebellar ataxia 12 2
          branched-chain keto acid dehydrogenase kinase deficiency 39
          cerebellar ataxia, mental retardation and dysequlibrium syndrome + 4
          cerebral cavernous malformation 2 2
          cerebral cavernous malformation 3 2
          cerebrocostomandibular syndrome 1
          chromosome 13q14 deletion syndrome 71
          chromosome 15q11.2 deletion syndrome 13
          chromosome 15q13.3 microdeletion syndrome 7
          chromosome 15q24 deletion syndrome 10
          chromosome 15q26-qter deletion syndrome 0
          chromosome 17p13.1 deletion syndrome 0
          chromosome 17q11.2 deletion syndrome 1
          chromosome 1q21.1 duplication syndrome 0
          chromosome 2q31.2 deletion syndrome 0
          chromosome 3q29 microdeletion syndrome 0
          chromosome 8q21.11 deletion syndrome 0
          cleft lip-palate-ectodermal dysplasia syndrome 1
          congenital muscular dystrophy with cataracts and intellectual disability 1
          corpus callosum agenesis-abnormal genitalia syndrome 1
          deafness-dystonia-optic neuronopathy syndrome 1
          dicarboxylic aminoaciduria 2
          early infantile epileptic encephalopathy 9 4
          hereditary spastic paraplegia 11 17
          hereditary spastic paraplegia 14 0
          hereditary spastic paraplegia 18 1
          hereditary spastic paraplegia 32 0
          hypoparathyroidism-retardation-dysmorphism syndrome 2
          hypotonia-cystinuria syndrome 4
          intellectual developmental disorder with short stature and behavioral abnormalities 1
          isolated cleft palate 2
          mandibulofacial dysostosis, Guion-Almeida type 1
          megalencephalic leukoencephalopathy with subcortical cysts 2B 1
          microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 1
          muscular dystrophy-dystroglycanopathy type B6 1
          non-syndromic intellectual disability + 265
          nonprogressive cerebellar ataxia with mental retardation 16
          optic atrophy 10 1
          parastremmatic dwarfism 1
          photosensitive trichothiodystrophy 1 3
          spastic ataxia + 28
          spondyloepimetaphyseal dysplasia, Genevieve-type 2
          syndromic intellectual disability + 687
          temtamy preaxial brachydactyly syndrome 1
          uveal coloboma-cleft lip and palate-intellectual disability 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            disease of mental health 6047
              developmental disorder of mental health 3163
                specific developmental disorder 2343
                  intellectual disability 2166
                    16p11.2 Deletion Syndrome 39
                    AGAT deficiency 9
                    AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency 1
                    AMME complex 1
                    ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION 0
                    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
                    Alacrima, Achalasia, and Mental Retardation Syndrome 1
                    Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 0
                    Alazami Syndrome 1
                    Alazami-Yuan Syndrome 1
                    Alopecia Contractures Dwarfism Mental Retardation 0
                    Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 0
                    Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 1
                    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, Mental Retardation, and Seizures 1
                    Au-Kline Syndrome 1
                    Aughton Syndrome 0
                    Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 0
                    Ayme-Gripp syndrome 1
                    Baraitser Rodeck Garner syndrome 0
                    Baraitser-Winter syndrome + 2
                    Basel-Vanagaite-Smirin-Yosef syndrome 1
                    Battaglia Neri Syndrome 0
                    Beaulieu-Boycott-Innes Syndrome 1
                    Behr syndrome 1
                    Bellini Chiumello Rimoldi Syndrome 0
                    Biemond Syndrome II 0
                    Birk-Barel syndrome 1
                    Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 0
                    Bohring Syndrome 2
                    Bosch-Boonstra-Schaaf Optic Atrophy Syndrome 4
                    Boudhina Yedes Khiari syndrome 0
                    Brachycephaly, Trichomegaly, and Developmental Delay 1
                    Bresheck/Bresek Syndrome 0
                    Brunner syndrome 1
                    Bullous Dystrophy, Hereditary Macular Type 0
                    C syndrome 1
                    CAHMR Syndrome 0
                    CATIFA Syndrome 2
                    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
                    Cerebellofaciodental Syndrome 1
                    Cerebral Visual Impairment and Intellectual Disability 18
                    Cerebrofaciothoracic Dysplasia 1
                    Cerebrooculofacioskeletal Syndrome 2 1
                    Cerebrooculofacioskeletal Syndrome 4 2
                    Cerebrooculonasal Syndrome 0
                    Choroid Plexus Calcification with Mental Retardation 0
                    Chromosome 18 Pericentric Inversion 0
                    Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB 0
                    Chromosome Xq28 Duplication Syndrome 0
                    Chudley-Rozdilsky Syndrome 0
                    Cochlear Deafness with Myopia and Intellectual Impairment 0
                    Coffin Syndrome 1 0
                    Cohen syndrome 2
                    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 Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder 1
                    Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, 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
                    Congenital Symmetric Circumferential Skin Creases + 2
                    Cornelia de Lange syndrome + 17
                    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 + 7
                    Cubitus Valgus with Mental Retardation 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
                    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 + 55
                    Dubowitz syndrome 0
                    Duchenne Muscular Dystrophy, Mental Retardation, and Absence of ERG B-wave 1
                    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 1
                    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
                    Epilepsy, Hearing Loss, and Mental Retardation 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 0
                    Fitzsimmons Walson Mellor Syndrome 0
                    Fitzsimmons-McLachlan-Gilbert syndrome 0
                    Focal Epilepsy with Speech Disorder and with or without Mental Retardation 7
                    Fountain Syndrome 0
                    Frontonasal Dysplasia 3 1
                    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 2
                    Gillespie syndrome 1
                    Gingival Fibromatosis with Hypertrichosis and Mental Retardation 0
                    Glycosylphosphatidylinositol Biosynthesis Defect 16 2
                    Goniodysgenesis-Mental Retardation-Short Stature Syndrome 0
                    Growth Deficiency and Mental Retardation with Facial Dysmorphism 4
                    Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 0
                    Growth Mental Deficiency Syndrome of Myhre 1
                    Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia 0
                    Gurrieri Sammito Bellussi Syndrome 0
                    Hair Defect with Photosensitivity and Mental Retardation 0
                    Hall Riggs Mental Retardation Syndrome 0
                    Hamamy Syndrome 1
                    Harel-Yoon Syndrome 1
                    Harrod Doman Keele Syndrome 0
                    Haspeslagh Fryns Muelenaere Syndrome 0
                    Hittner Hirsch Kreh Syndrome 1
                    Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate 1
                    Hooft Disease 0
                    Hordnes Engebretsen Knudtson syndrome 0
                    Hoyeraal Hreidarsson Syndrome 3
                    Hunter-McAlpine Syndrome 0
                    Hydroxylysinuria 0
                    Hyperleucine-Isoleucinemia 0
                    Hyperlysinemia due to Defect in Lysine Transport into Mitochondria 0
                    Hyperphosphatasia with Mental Retardation + 53
                    Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 0
                    Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum 0
                    Hypomagnesemia, Seizures, and Mental Retardation + 2
                    Hypospadias-Mental Retardation Syndrome 0
                    INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA 1
                    INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA 1
                    INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES 1
                    INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS 1
                    INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD 1
                    INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES 1
                    INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES 1
                    INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES 1
                    INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES 1
                    INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA 1
                    INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN 1
                    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 SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES 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 Abnormal Behavior, Microcephaly, and Short Stature 1
                    Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies 0
                    Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies 1
                    Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay 1
                    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, Autism, and Dysmorphic Facies 1
                    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 3
                    Joubert syndrome 15 1
                    Joubert syndrome 7 3
                    Joubert syndrome 9 5
                    KBG syndrome 5
                    Kahrizi syndrome 1
                    Kaler Garrity Stern Syndrome 0
                    Kapur Toriello Syndrome 0
                    Karandikar Maria Kamble Syndrome 0
                    Kat6a Syndrome 1
                    Katsantoni Papadakou Lagoyanni Syndrome 0
                    Keppen-Lubinsky Syndrome 1
                    Khalifa Graham Syndrome 0
                    Kleefstra syndrome + 76
                    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
                    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
                    Light Fixation Seizure Syndrome 0
                    Lissencephaly 3 + 3
                    Lissencephaly 4 3
                    Lowry Maclean syndrome 0
                    Lowry Wood Syndrome 1
                    Lubani Al Saleh Teebi Syndrome 0
                    Luscan-Lumish syndrome 1
                    Lynch Lee Murday syndrome 0
                    MASA syndrome 1
                    MEND syndrome 1
                    MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS 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 96
                    Marinesco-Sjogren syndrome 1
                    Martsolf 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 0
                    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, Autosomal Recessive 8 0
                    Mental Retardation, Buenos Aires Type 0
                    Mental Retardation, Fra12a Type 2
                    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, Short Stature, Facial Anomalies, and Joint Dislocations 1
                    Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 0
                    Mental Retardation, X-Linked + 664
                    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 Cervical Spine Fusion Anomalies 0
                    Microcephaly Deafness Syndrome 0
                    Microcephaly Seizures Mental Retardation Heart Disorders 0
                    Microcephaly Sparse Hair Mental Retardation Seizures 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 9
                    Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability 4
                    Muscular Dystrophy-Dystroglycanopathy (Congenital with Impaired Intellectual Development), type B, 14 2
                    Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 1 1
                    Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 2 1
                    Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 3 2
                    Myotonia with Skeletal Abnormalities and Mental Retardation 0
                    N syndrome 0
                    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
                    Ohdo syndrome + 3
                    Okur-Chung Neurodevelopmental Syndrome 1
                    Oliver Syndrome 0
                    Oliver-McFarlane syndrome 1
                    Onychotrichodysplasia and Neutropenia 0
                    Osteolysis Syndrome, Recessive 0
                    PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT 1
                    POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME 1
                    Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 0
                    Palant Cleft Palate Syndrome 0
                    Pallister W Syndrome 0
                    Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV 0
                    Pashayan Syndrome 0
                    Patella Hypoplasia Mental Retardation 0
                    Pavone Fiumara Rizzo Syndrome 0
                    Perisylvian Syndrome + 3
                    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 + 6
                    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 1
                    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
                    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 1
                    Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked 1
                    Rubinstein-Taybi syndrome + 25
                    Rud Syndrome 0
                    Ruzicka Goerz Anton syndrome 0
                    SATB2-associated syndrome 1
                    SCARF Syndrome 0
                    SIFRIM-HITZ-WEISS SYNDROME 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 Mental Retardation 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, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 0
                    Simpson-Golabi-Behmel syndrome type 1 3
                    Singh Chhaparwal Dhanda Syndrome 0
                    Skeletal Defects, Genital Hypoplasia, And Mental Retardation 1
                    Sketetal Dysplasia Coarse Facies Mental Retardation 2
                    Smith-Kingsmore Syndrome 1
                    Snijders Blok-Campeau Syndrome 1
                    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
                    Spondyloepiphyseal Dysplasia Tarda with Mental Retardation 0
                    Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 0
                    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 0
                    THAUVIN-ROBINET-FAIVRE SYNDROME 1
                    Takenouchi-Kosaki Syndrome 1
                    Tamari Goodman Syndrome 0
                    Tatton-Brown-Rahman Syndrome 3
                    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
                    Volcke Soekarman Syndrome 0
                    WAGR syndrome + 3
                    Waisman syndrome 1
                    Walker Dyson Syndrome 0
                    Warburg micro syndrome + 5
                    Warburton Anyane Yeboa Syndrome 0
                    Wiedemann Grosse Dibbern Syndrome 0
                    Wiedemann Oldigs Oppermann Syndrome 0
                    Williams-Beuren syndrome + 32
                    Winship Viljoen Leary Syndrome 0
                    Woodhouse-Sakati Syndrome 2
                    Worster-Drought Syndrome 1
                    Yorifuji Okuno Syndrome 0
                    Young Hughes Syndrome 0
                    ZTTK Syndrome 1
                    Zazam Sheriff Phillips Syndrome 0
                    Zechi-Ceide Syndrome 0
                    Zerres Rietschel Majewski Syndrome 0
                    acrodysostosis + 4
                    alopecia-mental retardation syndrome + 2
                    alpha thalassemia-intellectual disability syndrome type 1 0
                    autosomal dominant mental retardation 50 1
                    autosomal recessive cutis laxa type III + 2
                    autosomal recessive limb-girdle muscular dystrophy type 2P 13
                    autosomal recessive spinocerebellar ataxia 12 2
                    branched-chain keto acid dehydrogenase kinase deficiency 39
                    cerebellar ataxia, mental retardation and dysequlibrium syndrome + 4
                    cerebral cavernous malformation 2 2
                    cerebral cavernous malformation 3 2
                    cerebrocostomandibular syndrome 1
                    chromosome 13q14 deletion syndrome 71
                    chromosome 15q11.2 deletion syndrome 13
                    chromosome 15q13.3 microdeletion syndrome 7
                    chromosome 15q24 deletion syndrome 10
                    chromosome 15q26-qter deletion syndrome 0
                    chromosome 17p13.1 deletion syndrome 0
                    chromosome 17q11.2 deletion syndrome 1
                    chromosome 1q21.1 duplication syndrome 0
                    chromosome 2q31.2 deletion syndrome 0
                    chromosome 3q29 microdeletion syndrome 0
                    chromosome 8q21.11 deletion syndrome 0
                    cleft lip-palate-ectodermal dysplasia syndrome 1
                    congenital muscular dystrophy with cataracts and intellectual disability 1
                    corpus callosum agenesis-abnormal genitalia syndrome 1
                    deafness-dystonia-optic neuronopathy syndrome 1
                    dicarboxylic aminoaciduria 2
                    early infantile epileptic encephalopathy 9 4
                    hereditary spastic paraplegia 11 17
                    hereditary spastic paraplegia 14 0
                    hereditary spastic paraplegia 18 1
                    hereditary spastic paraplegia 32 0
                    hypoparathyroidism-retardation-dysmorphism syndrome 2
                    hypotonia-cystinuria syndrome 4
                    intellectual developmental disorder with short stature and behavioral abnormalities 1
                    isolated cleft palate 2
                    mandibulofacial dysostosis, Guion-Almeida type 1
                    megalencephalic leukoencephalopathy with subcortical cysts 2B 1
                    microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 1
                    muscular dystrophy-dystroglycanopathy type B6 1
                    non-syndromic intellectual disability + 265
                    nonprogressive cerebellar ataxia with mental retardation 16
                    optic atrophy 10 1
                    parastremmatic dwarfism 1
                    photosensitive trichothiodystrophy 1 3
                    spastic ataxia + 28
                    spondyloepimetaphyseal dysplasia, Genevieve-type 2
                    syndromic intellectual disability + 687
                    temtamy preaxial brachydactyly syndrome 1
                    uveal coloboma-cleft lip and palate-intellectual disability 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.