Rubinstein-Taybi Syndrome - Ontology Browser - Rat Genome Database

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Term:	Rubinstein-Taybi Syndrome	go back to main search page
Accession:	RDO:0000212	browse the term view annotations
Definition:	A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3).
Synonyms:	exact_synonym:	Broad Thumb Hallux Syndrome; Broad Thumb-Hallux Syndromes; Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation; RSTS1; RSTS2; RUBINSTEIN-TAYBI SYNDROME 1; RUBINSTEIN-TAYBI SYNDROME 2; Rubinstein Syndrome
	primary_id:	MESH:D012415
	alt_id:	OMIM:180849; OMIM:613684

Parent Terms	Term With Siblings	Child Terms
Abnormalities, Multiple + Chromosome Disorders + Craniofacial Abnormalities + Dysostoses + Intellectual Disability +	10p Deletion Syndrome (Partial) 13q deletion syndrome + 22q11 Deletion Syndrome + 3-Methylglutaconic Aciduria Type IV 3C syndrome 6q+ Syndrome, Partial 7p2 monosomy syndrome Aase Smith syndrome Abidi X-linked mental retardation syndrome Ablepharon macrostomia syndrome Absent Eyebrows and Eyelashes with Mental Retardation Achard syndrome Acrocephalopolydactylous Dysplasia Acrodysostosis Acromegaloid features, overgrowth, cleft palate, and hernia Adducted thumb and clubfoot syndrome + Adducted Thumbs Syndrome Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency Akesson syndrome Aksu von Stockhausen syndrome Al Gazali Aziz Salem syndrome Al-Gazali Syndrome Alagille Syndrome Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus Alopecia contractures dwarfism mental retardation Alopecia epilepsy oligophrenia syndrome of Moynahan Alopecia, epilepsy, pyorrhea, mental subnormality Alopecia, Neurologic Defects, and Endocrinopathy Syndrome Alopecia-Mental Retardation Syndrome 1 Alopecia-Mental Retardation Syndrome 2 ALOPECIA-MENTAL RETARDATION SYNDROME 3 Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis Alstrom Syndrome Amastia, Bilateral, With Ureteral Triplication And Dysmorphism Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis Amish Brittle Hair Brain Syndrome Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation Amyotrophic Dystonic Paraplegia Anemia, Congenital Hypoplastic, with Multiple Congenital Anomalies/Mental Retardation Syndrome Angelman Syndrome + Aniridia cerebellar ataxia mental deficiency Anisomastia Ansell Bywaters Elderking syndrome Aortic arch anomaly with peculiar facies and mental retardation Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal IV Arachnodactyly ataxia cataract aminoaciduria mental retardation Arginine:Glycine Amidinotransferase Deficiency Arthrogryposis epileptic seizures migrational brain disorder Arthrogryposis multiplex congenita whistling face Arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies Arthrogryposis, Distal, with Mental Retardation and Characteristic Facies Arthrogryposis-like hand anomaly and sensorineural deafness Arthropathy, Erosive Asymmetric Short Stature Syndrome Aughton syndrome Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation Axenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss AXENFELD-RIEGER SYNDROME, TYPE 1 Axial mesodermal dysplasia spectrum B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations Baker Vinters syndrome Bamforth syndrome Baraitser Rodeck Garner syndrome Bardet-Biedl Syndrome + Barth Syndrome + Basal Cell Nevus Syndrome + Battaglia Neri syndrome Beckwith-Wiedemann Syndrome + Behr syndrome Bellini Chiumello Rimoldi syndrome Ben Ari Shuper Mimouni syndrome Beta-Hydroxyisobutyryl CoA Deacylase Deficiency Beta-Ureidopropionase Deficiency Biemond Syndrome II Biemond syndrome type 2 Birk-Barel Mental Retardation Dysmorphism Syndrome Blepharochalasis And Double Lip Blepharophimosis syndrome Ohdo type Blepharophimosis with Facial and Genital Anomalies and Mental Retardation Bloom Syndrome Bohring syndrome Boudhina Yedes Khiari syndrome Bowen syndrome Brachydactyly, Intraventricular Septal Defect, And Deafness Brachymesomelia renal syndrome Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia Brachytelephalangy characteristic facies Kallmann Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate/Cryptorchidism, And Kidney Dysplasia/Hypoplasia Branchial Cleft Anomalies Branchio-Oto-Renal Syndrome + Branchiogenic-Deafness Syndrome Broad Terminal Phalanges, Familial Brunner Syndrome Bullous Dystrophy, Hereditary Macular Type Burnett Schwartz Berberian syndrome CAHMR syndrome Calvarial hyperostosis Camera Marugo Cohen syndrome Camptodactyly joint contractures and facial skeletal dysplasia Camptodactyly syndrome Guadalajara type 2 Cantalamessa Baldini Ambrosi syndrome Cantu Sanchez-Corona Fragoso syndrome Carney Complex + Cartwright Nelson Fryns syndrome Cataract, Congenital, with Mental Impairment and Dentate Gyrus Atrophy Cataracts, ataxia, short stature, and mental retardation Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation Cephalin Lipidosis Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 Cerebral Cavernous Malformations 2 Cerebral Cavernous Malformations 3 Cerebrocostomandibular Syndrome Cerebrofaciothoracic Dysplasia Cerebrofrontofacial Syndrome Cerebrooculofacioskeletal Syndrome 2 Cerebrooculofacioskeletal Syndrome 4 Cerebrooculonasal Syndrome Cervical ribs sprengel anomaly anal atresia urethral obstruction Cervical Vertebrae, Agenesis Of Char syndrome CHARGE Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies CHARGE Syndrome Chemke Oliver Mallek syndrome Chondrodysplasia, Megarbane-Dagher-Melki Type Choroid plexus calcification with mental retardation Chromosome 10q duplication syndrome Chromosome 13q-mosaicism CHROMOSOME 13q14 DELETION SYNDROME Chromosome 15q13.3 Microdeletion Syndrome Chromosome 15q26-Qter Deletion Syndrome CHROMOSOME 17p13.1 DELETION SYNDROME Chromosome 17p13.3 Duplication Syndrome Chromosome 17q21.31 Deletion Syndrome Chromosome 18 deletion syndrome Chromosome 18 Pericentric Inversion Chromosome 18p deletion syndrome Chromosome 19q13.11 Deletion Syndrome Chromosome 1p36 Deletion Syndrome Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb Chromosome 1q21.1 Duplication Syndrome Chromosome 1q43-Q44 Deletion Syndrome Chromosome 22, monosome mosaic Chromosome 22q11.2 Deletion Syndrome, Distal Chromosome 22q11.2 Microduplication Syndrome Chromosome 2p16.1-P15 Deletion Syndrome Chromosome 2q31.2 Deletion Syndrome Chromosome 2q32-Q33 Deletion Syndrome Chromosome 2q37 deletion syndrome Chromosome 3 duplication syndrome CHROMOSOME 3pter-p25 DELETION SYNDROME Chromosome 3q29 Deletion Syndrome Chromosome 3q29 Duplication Syndrome Chromosome 4, 4q Terminal Deletion Syndrome Chromosome 4q- Syndrome Chromosome 5p13 Duplication Syndrome Chromosome 6 ring syndrome Chromosome 7 ring syndrome CHROMOSOME 7q11.23 DELETION SYNDROME, DISTAL, 1.2-MB CHROMOSOME 8q21.11 DELETION SYNDROME Chromosome 9p Deletion Syndrome Chromosome Xp11.23-P11.22 Duplication Syndrome Chromosome Xq28 Duplication Syndrome Chudley-Rozdilsky syndrome Cleft Palate, Isolated, And Mental Retardation Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss Cleidocranial Dysplasia + COACH syndrome Cockayne Syndrome + COCOON SYNDROME CODAS syndrome Coffin syndrome 1 Coffin-Siris syndrome Cohen syndrome Cold-Induced Sweating Syndrome 1 Coloboma, cleft lip/palate and mental retardation syndrome Coloboma, Uveal, with Cleft Lip and Palate and Mental Retardation Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome Combined Oxidative Phosphorylation Deficiency 2 Congenital Cataracts, Facial Dysmorphism, And Neuropathy Congenital Disorder Of Glycosylation, Type II Congenital Disorder Of Glycosylation, Type IIG Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects Contiguous Abcd1/Dxs1375e Deletion Syndrome Convulsive Disorder, Familial, with Prenatal or Early Onset Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia Cortical Blindness, Retardation, and Postaxial Polydactyly Costello Syndrome Costocoracoid ligament congenitally short COUSIN SYNDROME Cranioacrofacial Syndrome Craniodiaphyseal Dysplasia Craniodiaphyseal Dysplasia, Autosomal Dominant Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation Craniofacial Anomalies, Empty Sella Turcica, Corneal Endothelial Changes, and Abnormal Retinal and Auditory Bipolar Cells Craniofacial deafness hand syndrome Craniofacial Dysostosis + Craniofacial dyssynostosis Craniofacial-Skeletal-Dermatologic Dysplasia Craniofaciofrontodigital Syndrome Craniofacioskeletal Syndrome Craniofrontonasal dysplasia Craniolenticulosutural Dysplasia Craniomicromelic Syndrome Craniorhiny Craniosynostoses + Craniosynostosis Mental Retardation Clefting Syndrome Craniosynostosis Syndrome, Autosomal Recessive Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig Cree Mental Retardation Syndrome Cri-du-Chat Syndrome + Crumpled helices and small mouth Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly Cryptomicrotia brachydactyly syndrome Cubitus Valgus with Mental Retardation and Unusual Facies Curatolo Cilio Pessagno syndrome Curly hair-acral keratoderma-caries syndrome Cutis Verticis Gyrata and Mental Deficiency Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality Davis Lafer syndrome De Barsy syndrome De Lange Syndrome + De Sanctis-Cacchione syndrome Deaf-Blind Disorders + Deafness nephritis ano rectal malformation Deafness, Cochlear, with Myopia and Intellectual Impairment Deafness, congenital onychodystrophy, recessive form Delayed Cranial Ossification due to CBFB Haploinsufficiency Deletion 13q syndrome, partial Desbuquois syndrome Desmosterolosis Devriendt syndrome Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification Diaphanospondylodysostosis Diarrhea 3, Secretory Sodium, Congenital Dicarboxylicaminoaciduria Digitorenocerebral Syndrome Dincsoy Salih Patel syndrome Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, And Mental Retardation Distal Trisomy 10q Syndrome DK Phocomelia Syndrome Donohue Syndrome + Down Syndrome + Dubowitz syndrome Duker Weiss Siber syndrome Duplication 15q11-q13 Syndrome Duplication 4p Syndrome Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone Dyggve-Melchior-Clausen syndrome Dysequilibrium syndrome Dysmyelination With Jaundice Ectodermal Dysplasia + Ectodermal dysplasia mental retardation syndactyly Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism Ectrodactyly cardiopathy dysmorphism Edinburgh Malformation Syndrome Elliott Ludman Teebi syndrome Ellis Yale Winter syndrome Emanuel syndrome Emphysema, Congenital, With Deafness, Penoscrotal Web, And Mental Retardation Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration Epidermolysis bullosa, late-onset localized junctional, with mental retardation Epilepsy telangiectasia Epilepsy, Female-Restricted, with Mental Retardation Epilepsy, Photogenic, with Spastic Diplegia and Mental Retardation EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 9 Epileptic encephalopathy, Lennox-Gastaut type Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract Exchondrosis Of Pinna, Posterior Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis Facial Abnormalities, Kyphoscoliosis, and Mental Retardation Facial Dysmorphism with Multiple Malformations Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly Facio thoraco genital syndrome Faciocardiomelic Syndrome Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder Fallot complex with severe mental and growth retardation Feingold Trainer syndrome Femur bifid with monodactylous ectrodactyly Femur fibula ulna syndrome Fg Syndrome 5 Fibrochondrogenesis Fibromatosis, Gingival, with Hypertrichosis and Mental Retardation Filippi syndrome Fine-Lubinsky syndrome Fitzsimmons Walson Mellor syndrome Fitzsimmons-McLachlan-Gilbert syndrome Flat umbilicus familial Floating-harbor syndrome Focal Dermal Hypoplasia + Forebrain Defects Forney Robinson Pascoe syndrome Fountain syndrome Fragile Site 16p12 FRAGILE X MENTAL RETARDATION SYNDROME Fraser Jequier Chen syndrome Fraser Syndrome Fraser-Like Syndrome Fried Goldberg Mundel syndrome Fronto-facio-nasal dysplasia Frontofacionasal Dysplasia FRONTONASAL DYSPLASIA 1 FRONTONASAL DYSPLASIA 3 Frontoocular Syndrome Frontootopalatodigital Osteodysplasia Frontorhiny Fryns-Aftimos Syndrome Game Friedman Paradice syndrome Gardner Morrisson Abbot syndrome Gardner Syndrome + Garret Tripp syndrome GELEOPHYSIC DYSPLASIA 1 GEMSS syndrome Genee-Wiedemann syndrome Genitopatellar Syndrome Glutamyl Ribose-5-Phosphate Storage Disease Goldberg-Shprintzen megacolon syndrome Gomez Lopez Hernandez syndrome Gonadal Dysgenesis, XY Type, with Associated Anomalies Goniodysgenesis-Mental Retardation-Short Stature Syndrome Gorlin Chaudhry Moss syndrome Gracile bone dysplasia Grant syndrome Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate Growth Deficiency and Mental Retardation with Facial Dysmorphism Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy Growth mental deficiency syndrome of Myhre Growth Retardation, Developmental Delay, Coarse Facies, And Early Death Gurrieri Sammito Bellussi syndrome Hadziselimovic Syndrome Hair defect with photosensitivity and mental retardation Halal syndrome Hall Riggs mental retardation syndrome Hand foot uterus syndrome Hanhart syndrome Harrod Doman Keele syndrome Haspeslagh Fryns Muelenaere syndrome Heart defects limb shortening Hecht Scott syndrome Hecht syndrome Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities Hennekam lymphangiectasia lymphedema syndrome Hersh Podruch Weisskopk syndrome Heterotaxy Syndrome + HETEROTAXY, VISCERAL, 2, AUTOSOMAL Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly Histidinemia Hittner Hirsch Kreh syndrome Ho Kaufman Mcalister syndrome Holoprosencephaly + Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate Holt-Oram syndrome Holzgreve Wagner Rehder syndrome Hooft disease Hordnes Engebretsen Knudtson syndrome Hoyeraal Hreidarsson syndrome Humeroradial Synostosis with Craniofacial Anomalies Hunter-Macdonald Syndrome Hunter-McAlpine syndrome Hyde Forster Mccarthy Berry syndrome Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphic Features Hydroxylysinuria Hyperleucine-Isoleucinemia Hyperlysinemia Due To Defect In Lysine Transport Into Mitochondria Hyperphosphatasia with Mental Retardation HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features Hyperuricemia, Infantile, with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase Hypogonadism with Low-Grade Mental Deficiency and Microcephaly Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies Hypomelia mullerian duct anomalies Hypoparathyroidism-retardation-dysmorphism syndrome Hypophosphatemia, Renal, with Intracerebral Calcifications Hypospadias-Mental Retardation Syndrome Hypotonia, Seizures, And Precocious Puberty Hypotonia-Cystinuria Syndrome Ichthyosis and male hypogonadism Ichthyosis cheek eyebrow syndrome Ichthyosis, mental retardation, dwarfism, and renal impairment Ichthyosis-Cheek-Eyebrow Syndrome Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 Incontinentia Pigmenti + Indolylacroyl Glycinuria with Mental Retardation Insulin-Like Growth Factor I, Resistance To Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation Iris dysplasia hypertelorism deafness Isolated Noncompaction of the Ventricular Myocardium + Jacobsen Distal 11q Deletion Syndrome + JACOBSEN SYNDROME Jagell Holmgren Hofer syndrome Jarcho-Levin syndrome + JAWAD SYNDROME Jequier Kozlowski skeletal dysplasia Johanson Blizzard syndrome Jones Hersh Yusk syndrome Joubert Syndrome 7 Joubert Syndrome 9 Jung Wolff Back Stahl syndrome Kabuki syndrome Kahrizi Syndrome Kaler Garrity Stern syndrome Kapur Toriello syndrome Karandikar Maria Kamble syndrome Kashani Strom Utley syndrome Kasznica Carlson Coppedge syndrome Katsantoni Papadakou Lagoyanni syndrome Kaufman oculocerebrofacial syndrome KBG syndrome Keratoconus Posticus Circumscriptus with Associated Malformations Keutel syndrome Kleefstra Syndrome Kleiner Holmes syndrome Klippel-Feil Syndrome + Knuckle pads, leuconychia and sensorineural deafness Koone Rizzo Elias syndrome Kosztolanyi syndrome Kozlowski Brown Hardwick syndrome Kozlowski Celermajer Tink syndrome Kozlowski Ouvrier syndrome Kozlowski Rafinski Klicharska syndrome Kozlowski-Krajewska syndrome Krauss Herman Holmes syndrome Krieble Bixler syndrome Kuzniecky syndrome Kyphomelic dysplasia L-2-HYDROXYGLUTARIC ACIDURIA Lacrimoauriculodentodigital syndrome Lambert syndrome Larsen like syndrome, lethal type Larsen syndrome, dominant type Larsen syndrome, recessive type Larsen-Like Syndrome Lateral meningocele syndrome Lateral semicircular canal malformation, familial, with external and middle ear abnormalities Laurence-Moon Syndrome Laurin-Sandrow syndrome Le Marec Bracq Picaud syndrome Leichtman Wood Rohn syndrome Lenz Majewski hyperostotic dwarfism LEOPARD Syndrome + Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinemia Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis LIG4 Syndrome Light Fixation Seizure Syndrome Limb Defects, Distal Transverse, with Mental Retardation and Spasticity Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones Lissencephaly 3 Loeys-Dietz Syndrome + Lopes Gorlin syndrome Lowry Maclean syndrome Lowry Wood syndrome Lubani Al Saleh Teebi syndrome Lujan Fryns syndrome Lutz Richner Landolt syndrome Lymphedema, Cardiac Septal Defects, And Characteristic Facies Lynch Lee Murday syndrome Macrocephaly + Macrogyria, pseudobulbar palsy and mental retardation Macrosomia obesity macrocephaly ocular abnormalities Macrosomia with lethal microphthalmia Male pseudohermaphroditism/mental retardation syndrome, Verloes type Malpuech facial clefting syndrome Mandibuloacral dysplasia with type B lipodystrophy Mandibulofacial Dysostosis Syndrome, Bauru Type Mandibulofacial Dysostosis with Macroblepharon and Macrostomia Mandibulofacial Dysostosis with Mental Deficiency Manouvrier syndrome Marden Walker like syndrome Marden-Walker syndrome Marfan Syndrome + Marfanoid Mental Retardation Syndrome, Autosomal Marinesco-Sjogren-like syndrome (MSLS) Marles Greenberg Persaud syndrome Marshall syndrome Marshall-Smith syndrome Martin-Probst Deafness-Mental Retardation Syndrome Martsolf syndrome MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome Maxillofacial Abnormalities + McDonough syndrome McKusick Kaufman syndrome McPherson Clemens syndrome Meckel Syndrome, Type 5 Meckel Syndrome, Type 6 Megacystis microcolon intestinal hypoperistalsis syndrome Megalencephaly cutis marmorata telangiectatica congenita Megarbane Jalkh Syndrome Megarbane syndrome Mehes syndrome Melhem Fahl syndrome Mental and Growth Retardation with Amblyopia Mental Retardation associated with Psoriasis Mental retardation Mietens Weber type Mental retardation Smith Fineman Myers type Mental retardation spasticity ectrodactyly Mental retardation syndrome, Belgian type MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature Mental Retardation with Spastic Paraplegia Mental retardation Wolff type MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS Mental Retardation, Autosomal Dominant 1 MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 Mental Retardation, Autosomal Dominant 3 Mental Retardation, Autosomal Dominant 4 Mental Retardation, Autosomal Dominant 5 Mental Retardation, Autosomal Recessive 1 Mental Retardation, Autosomal Recessive 10 Mental Retardation, Autosomal Recessive 11 Mental Retardation, Autosomal Recessive 12 Mental Retardation, Autosomal Recessive 13 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 16 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 17 Mental Retardation, Autosomal Recessive 2 Mental Retardation, Autosomal Recessive 3 Mental Retardation, Autosomal Recessive 4 Mental Retardation, Autosomal Recessive 5 Mental Retardation, Autosomal Recessive 6 Mental Retardation, Autosomal Recessive 7 Mental Retardation, Autosomal Recessive 8 Mental Retardation, Autosomal Recessive 9 Mental Retardation, Buenos Aires Type Mental Retardation, Fra12a Type Mental Retardation, Joint Hypermobility, And Skin Laxity, With Or Without Metabolic Abnormalities Mental retardation, keratoconus, febrile seizures, and sinoatrial block Mental retardation, macrocephaly, short stature and craniofacial dysmorphism Mental Retardation, Microcephaly, Epilepsy, And Coarse Face Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations Mental Retardation, Skeletal Dysplasia, and Abducens Palsy Mental Retardation, X-Linked + Mental Retardation, X-Linked, Syndromic 12 Mental Retardation, X-Linked, Syndromic, Christianson Type MENTAL RETARDATION, X-LINKED, SYNDROMIC, MARTIN-PROBST TYPE Mental Retardation, X-Linked, Syndromic, Turner Type Mental Retardation, X-Linked, Syndromic, Zdhhc9-Related Mental Retardation, X-Linked, With Panhypopituitarism Mental Retardation, X-Linked, Znf711-Related Mesomelia-synostoses syndrome Mesomelic Limb Shortening and Bowing Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness Methionine Malabsorption Syndrome Michels Caskey syndrome Microcephalic primordial dwarfism Toriello type Microcephaly + Microcephaly albinism digital anomalies syndrome Microcephaly cervical spine fusion anomalies Microcephaly deafness syndrome Microcephaly microcornea syndrome Seemanova type Microcephaly seizures mental retardation heart disorders Microcephaly sparse hair mental retardation seizures Microcephaly with Mental Retardation and Digital Anomalies Microcephaly, corpus callosum dysgenesis and cleft lip-palate Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance Microcephaly, Macrotia, And Mental Retardation MICROCEPHALY, MENTAL RETARDATION, AND DISTINCTIVE FACIES, WITH CARDIAC AND GENITOURINARY MALFORMATIONS Microdontia hypodontia short stature Microphthalmia and mental deficiency Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies Microspherophakia with hernia Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia Mirhosseini-Holmes-Walton syndrome Mobius Syndrome + Mohr-Tranebjaerg syndrome Mollica Pavone Antener syndrome MOMES Syndrome Monilethrix + Monosomy 7 of Bone Marrow Morillo-Cucci Passarge syndrome MORM syndrome Mosaic variegated aneuploidy syndrome Mousa Al din Al Nassar syndrome Mowat-Wilson syndrome MOYAMOYA DISEASE 4 WITH SHORT STATURE, HYPERGONADOTROPIC HYPOGONADISM, AND FACIAL DYSMORPHISM Mucolipidosis II Alpha Beta Muller Barth Menger syndrome Multiple Congenital Anomalies Syndrome with Cloverleaf Skull Multiple pterygium syndrome + Multiple Pterygium Syndrome, Aslan Type Muscular Dystrophy, Congenital, associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation Muscular Dystrophy, Congenital, plus Mental Retardation Muscular Dystrophy, Congenital, Type 1D Muscular Dystrophy, Limb-Girdle, Type 2K MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay Myotonia with Skeletal Abnormalities and Mental Retardation N syndrome Nablus mask-like facial syndrome Nail-Patella Syndrome + Nakamura Osame syndrome Nance Sweeney chondrodysplasia + Nasopalpebral lipoma coloboma syndrome Nasopharyngeal teratoma with Dandy Walker diaphragmatic hernia Netherton Syndrome Neu Laxova syndrome Neuhauser syndrome Neurofaciodigitorenal syndrome Neurologic Disease, Infantile Multisystem, with Osseous Fragility Nevus, Sebaceous of Jadassohn + NF1 Microdeletion Syndrome NF1 Microduplication Syndrome Nicolaides Baraitser syndrome Noonan Syndrome + Novak syndrome Oculoauriculofrontonasal syndrome Oculocerebral hypopigmentation syndrome type Preus Oculocerebrorenal Syndrome + Oculodentodigital Dysplasia Oculodentodigital Dysplasia, Autosomal Recessive Oculodigitoesophagoduodenal syndrome Oculootofacial Dysplasia Oculootoradial syndrome Oculopalatocerebral Syndrome Oculorenocerebellar syndrome Oliver Syndrome Oliver-McFarlane syndrome Onychotrichodysplasia and neutropenia Ophthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency Opitz trigonocephaly syndrome Orbital Margin, Hypoplasia of Orofaciodigital Syndromes + Oslam syndrome Osteolysis syndrome recessive Oto-Palato-digital syndrome type 1 Oto-palato-digital syndrome, type 2 Otocephaly Otodental Dysplasia Otofacioosseous-Gonadal Syndrome Otopalatodigital Spectrum Disorder PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS Palant cleft palate syndrome Pallister Killian syndrome Pallister W syndrome Pallister-Hall Syndrome Parastremmatic dwarfism Parkinsonism, early onset with mental retardation Partial Duplication 15q Syndrome Partial Trisomy 3q Syndrome Pashayan syndrome Patau syndrome Patella hypoplasia mental retardation Patterson pseudoleprechaunism syndrome Pavone Fiumara Rizzo syndrome Pelvis-Shoulder Dysplasia Pelviscapular dysplasia + Penoscrotal transposition Pentalogy of Cantrell Perisylvian syndrome Perniola Krajewska Carnevale syndrome Petty Laxova Wiedemann syndrome Pfeiffer Kapferer syndrome Pfeiffer Mayer syndrome Pfeiffer Palm Teller syndrome Pfeiffer Tietze Welte syndrome Piepkorn Karp Hickok syndrome Pierson syndrome Pilotto syndrome Pitt-Hopkins syndrome Pitt-Hopkins-Like Syndrome 1 Pituitary Hormone Deficiency, Combined, 1 Pituitary Hormone Deficiency, Combined, 4 Piussan Lenaerts Mathieu syndrome Plagiocephaly + Platybasia + Podder-Tolmie syndrome POEMS Syndrome Pointer syndrome Polycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia Potato nose Potocki-Shaffer syndrome Powell Chandra Saal syndrome Prader-Willi Syndrome + Preauricular Fistulae, Congenital Preaxial deficiency, postaxial polydactyly and hypospadias Premature aging, Okamoto type Premature Chromosome Condensation with Microcephaly and Mental Retardation Prieto X-linked mental retardation syndrome Primrose syndrome Prolidase Deficiency Prolonged Bleeding Time, Brachydactyly, and Mental Retardation Proteus Syndrome + Proud Syndrome Prune Belly Syndrome + Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness Pseudoaminopterin syndrome Pseudouridinuria and Mental Defect Pterygium colli mental retardation digital anomalies Puerto Rican Infant Hypotonia Syndrome Pulmonary Hypoplasia, Primary Qazi Markouizos syndrome Radial defect Robin sequence Radial hypoplasia, triphalangeal thumbs and hypospadias Radial ray hypoplasia choanal atresia Radio-ulnar synostosis type 1 Radio-ulnar synostosis type 2 Radioulnar synostosis retinal pigment abnormalities Raine syndrome Ramon Syndrome Ramos Arroyo Clark syndrome Reardon Hall Slaney syndrome Reardon Wilson Cavanagh syndrome Recombinant chromosome 8 syndrome Renal hepatic pancreatic dysplasia Dandy Walker cyst Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation Renal Tubular Dysgenesis With Choanal Atresia And Athelia Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism Richards-Rundle syndrome Riddle Syndrome Ring chromosome 4 syndrome Roberts Syndrome Robin Sequence with Distinctive Facial Appearance and Brachydactyly Robinow Syndrome, Autosomal Dominant Rokitansky Kuster Hauser syndrome Rolandic Epilepsy, Mental Retardation, And Speech Dyspraxia, Autosomal Dominant Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked Rommen Mueller Sybert syndrome Rozin Hertz Goodman syndrome Rubella Syndrome, Congenital Rubinstein-Taybi Syndrome + A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3). Rud Syndrome Rudiger Syndrome Ruzicka Goerz Anton syndrome Saal Bulas syndrome Sackey Sakati Aur syndrome Sacral defect and anterior sacral meningocele Sacral meningocele conotruncal heart defects Sammartino De Crecchio Syndrome Samson Viljoen syndrome Sanderson Fraser syndrome Sandhaus Ben-Ami syndrome Sao Paulo MCA/MR Syndrome Say Field Coldwell syndrome Say Meyer syndrome Say syndrome Scalp ear nipple syndrome Scaphocephaly, Maxillary Retrusion, And Mental Retardation SCARF syndrome Schaefer Stein Oshman syndrome Schilbach-Rott Syndrome Ocular Hypotelorism, Submucosal Cleft Palate, and Hypospadias Schinzel-Giedion syndrome Schmid-Fraccaro syndrome Schofer Beetz Bohl syndrome Scholte syndrome Schrander-Stumpel Theunissen Hulsmans syndrome Schwartz-Lelek syndrome Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities Sclerosing bone dysplasia mental retardation Scott Bryant Graham syndrome Seaver Cassidy syndrome Seckel like syndrome type Buebel Seckel Syndrome 3 SECKEL SYNDROME 4 Seemanova Lesny syndrome SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE Sener syndrome Seow Najjar syndrome SeSAME syndrome Sex Chromosome Disorders + Sharma Kapoor Ramji syndrome Short Rib-Polydactyly Syndrome + Short Stature And Facioauriculothoracic Malformations Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, And Atypical Clefting Short Stature-Obesity Syndrome Shprintzen omphalocele syndrome Siegler Brewer Carey syndrome Silengo Lerone Pelizza syndrome Silver-Russell Syndrome + Simosa cranio facial syndrome Simpson-Golabi-Behmel syndrome + Simpson-Golabi-Behmel Syndrome, Type 2 Singh Chhaparwal Dhanda syndrome Skeletal Defects, Genital Hypoplasia, And Mental Retardation Sketetal dysplasia coarse facies mental retardation Smith-Lemli-Opitz Syndrome + Smith-Magenis Syndrome + Sonoda syndrome Sotos Syndrome + Spastic Ataxia Spastic diplegia infantile type Spastic paraplegia 14, autosomal recessive Spastic Paraplegia 18, Autosomal Recessive Spastic Paraplegia 32, Autosomal Recessive Spastic paraplegia epilepsy mental retardation Spastic Paraplegia, Ataxia, And Mental Retardation Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy Spastic Paresis, Glaucoma, and Mental Retardation Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation Spinal Muscular Atrophy with Mental Retardation Spinal Muscular Atrophy with Microcephaly and Mental Subnormality Splenogonadal fusion limb defects micrognatia Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects Spondylocarpotarsal synostosis Spondylocostal Dysostosis 4, Autosomal Dominant SPONDYLOCOSTAL DYSOSTOSIS 5, AUTOSOMAL DOMINANT Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies Spondylocostal dysostosis, autosomal recessive + Spondyloepimetaphyseal Dysplasia, Aggrecan Type Spondyloepimetaphyseal dysplasia, Genevieve type Spondyloepiphyseal Dysplasia Tarda with Mental Retardation Spondyloepiphyseal Dysplasia With Coronal Craniosynostosis, Cataracts, Cleft Palate, And Mental Retardation Spondylohypoplasia, arthrogryposis and popliteal pterygium Spondyloocular Syndrome, Autosomal Recessive Spondylospinal Thoracic Dysostosis Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features Stevenson-Carey Syndrome Stickler Syndrome, Autosomal Recessive, COL9A1-Related Stoelinga de Koomen Davis syndrome Sucrosuria, Hiatus Hernia and Mental Retardation SUPERNUMERARY DER(22)t(8 Synostosis + Tamari Goodman syndrome Teebi Shaltout syndrome Teebi syndrome Teeth noneruption of with maxillary hypoplasia and genu valgum Telecanthus Telomeric 22q13 monosomy syndrome Temple-Baraitser Syndrome Temtamy preaxial brachydactyly syndrome Temtamy syndrome Ter Haar syndrome Tetra-amelia with pulmonary hypoplasia Tetraamelia multiple malformations Tetraamelia, Autosomal Recessive Tetrasomy X Thakker Donnai syndrome Thomas Jewett Raines syndrome Thomas syndrome Thoracic Dysostosis, Isolated Thoracolaryngopelvic dysplasia Thoracopelvic Dysostosis Thrombocytopenia chromosome breakage Thymic Aplasia with Fetal Death Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies Tollner Horst Manzke syndrome Tonoki syndrome Townes-Brocks syndrome Townes-Brocks-Branchiootorenal-Like Syndrome Tricho-dento-osseous syndrome 1 Trichodental syndrome Trichodentoosseous Syndrome Trichothiodystrophy Syndromes + TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH Triphalangeal thumbs brachyectrodactyly Trisomy 18-Like Syndrome Trisomy 22 mosaicism syndrome Tryptophanuria With Dwarfism Tsukahara Syndrome Ulna hypoplasia with mental retardation Ulnar Hypoplasia with Mental Retardation Ulnar-mammary syndrome Upton Young syndrome Urioste Martinez-Frias syndrome Urogenital adysplasia Uropathy distal obstructive polydactyly Uruguay Faciocardiomusculoskeletal Syndrome Van Bogaert-Hozay syndrome Van Buchem disease type 2 Van Den Bosch Syndrome Van der Woude syndrome + Van der Woude syndrome 2 Van Maldergem Wetzburger Verloes syndrome Vasquez Hurst Sotos syndrome Velofacioskeletal syndrome Verloes Gillerot Fryns syndrome Verloove-Vanhorick Brubakk syndrome Vertebral body fusion overgrowth Viljoen Kallis Voges syndrome Vitiligo, Progressive, with Mental Retardation and Urethral Duplication Vohwinkel syndrome Volcke Soekarman syndrome Waardenburg Syndrome + WAGR Syndrome + Walbaum Titran Durieux Crepin syndrome Walker Dyson syndrome Warburg Sjo Fledelius syndrome Warburton Anyane Yeboa syndrome Weaver syndrome Weaver-Like Syndrome Weill-Marchesani Syndrome + Weyers acrofacial dysostosis Weyers ulnar ray/oligodactyly syndrome White forelock with malformations Wiedemann Grosse Dibbern syndrome Wiedemann Oldigs Oppermann syndrome Williams Syndrome + Winchester syndrome Winship Viljoen Leary syndrome Winter Harding Hyde syndrome Winter Shortland Temple syndrome Wolf-Hirschhorn Syndrome + Wolfram Syndrome + Woodhouse Sakati syndrome Woolly hair, hypotrichosis, everted lower lip and outstanding ears Worster Drought syndrome WT limb blood syndrome XK aprosencephaly Yemenite deaf-blind hypopigmentation syndrome Yim Ebbin syndrome Yorifuji Okuno syndrome Young Hughes syndrome Young Simpson syndrome Zadik Barak Levin syndrome Zazam Sheriff Phillips syndrome Zechi-Ceide Syndrome Zellweger Syndrome + Zerres Rietschel Majewski syndrome Zimmerman Laband syndrome Zlotogora-Ogur syndrome Zunich neuroectodermal syndrome	Chromosome 16p13.3 Deletion Syndrome Rubinstein Taybi like syndrome

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