Disease Browser
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Parent Node: Abnormalities, Multiple (D000015) | Parent Node: Chromosome Deletion (D002872) | Parent Node: Intellectual Disability (D008607) | ..Starting node ..Chromosome 2q32-Q33 Deletion Syndrome (C567350)
| Child Nodes:
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Sister Nodes: | ..15q24 Microdeletion (C579849)
| ..16p11.2 Deletion Syndrome (C579850)
| ..Absent Eyebrows and Eyelashes with Mental Retardation (C563111)
| ..Acrodysostosis (C538179)
| ..Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations (C563429)
| ..AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency (C563876)
| ..Akesson syndrome (C535610)
| ..Al Gazali Aziz Salem syndrome (C535613)
| ..Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus (C565968)
| ..Alopecia contractures dwarfism mental retardation (C537051)
| ..Alopecia epilepsy oligophrenia syndrome of Moynahan (C537052)
| ..Alopecia, epilepsy, pyorrhea, mental subnormality (C537057)
| ..Alopecia, Neurologic Defects, and Endocrinopathy Syndrome (C567425)
| ..Alopecia-Mental Retardation Syndrome 1 (C565965)
| ..Alopecia-Mental Retardation Syndrome 2 (C563668)
| ..ALOPECIA-MENTAL RETARDATION SYNDROME 3 (OMIM:613930)
| ..Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism (C563370)
| ..Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type (C563050)
| ..Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis (C564570)
| ..Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis (C565960)
| ..Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation (C565958)
| ..Amyotrophic Dystonic Paraplegia (C566292)
| ..Anemia, Congenital Hypoplastic, with Multiple Congenital Anomalies/Mental Retardation Syndrome (C565796)
| ..Aniridia cerebellar ataxia mental deficiency (C536370)
| ..Ansell Bywaters Elderking syndrome (C537773)
| ..Aortic arch anomaly with peculiar facies and mental retardation (C537785)
| ..Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal IV (C563942)
| ..Arachnodactyly ataxia cataract aminoaciduria mental retardation (C537424)
| ..Arginine:Glycine Amidinotransferase Deficiency (C567192)
| ..Arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies (C535385)
| ..Arthrogryposis, Distal, with Mental Retardation and Characteristic Facies (C565940)
| ..Aughton syndrome (C538269)
| ..Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation (C565923)
| ..Baraitser Rodeck Garner syndrome (C537906)
| ..Battaglia Neri syndrome (C537662)
| ..BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
| ..Behr syndrome (C537669)
| ..Bellini Chiumello Rimoldi syndrome (C535652)
| ..Biemond Syndrome II (C565902)
| ..Biemond syndrome type 2 (C535439)
| ..Birk-Barel Mental Retardation Dysmorphism Syndrome (C567357)
| ..Blepharophimosis syndrome Ohdo type (C536232)
| ..Blepharophimosis with Facial and Genital Anomalies and Mental Retardation (C565797)
| ..Bohring syndrome (C537419)
| ..Boudhina Yedes Khiari syndrome (C537939)
| ..BRACHYDACTYLY-MENTAL RETARDATION SYNDROME (OMIM:600430)
| ..Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate/Cryptorchidism, And (C564519)
| ..Brunner Syndrome (C563156)
| ..Bullous Dystrophy, Hereditary Macular Type (C563065)
| ..CAHMR syndrome (C537959)
| ..Camera Marugo Cohen syndrome (C537964)
| ..Cantalamessa Baldini Ambrosi syndrome (C537981)
| ..Cantu Sanchez-Corona Fragoso syndrome (C535571)
| ..Cartwright Nelson Fryns syndrome (C535917)
| ..Cataract, Congenital, with Mental Impairment and Dentate Gyrus Atrophy (C564353)
| ..Cataracts, ataxia, short stature, and mental retardation (C535345)
| ..Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation (C563390)
| ..Cephalin Lipidosis (C565872)
| ..Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 (C567656)
| ..Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 (C567690)
| ..Cerebral Cavernous Malformations 2 (C566394)
| ..Cerebral Cavernous Malformations 3 (C566393)
| ..Cerebrocostomandibular Syndrome (C562538)
| ..Cerebrofaciothoracic Dysplasia (C565862)
| ..Cerebrooculofacioskeletal Syndrome 2 (C565185)
| ..Cerebrooculofacioskeletal Syndrome 4 (C565184)
| ..Cerebrooculonasal Syndrome (C565313)
| ..Choroid plexus calcification with mental retardation (C535357)
| ..CHROMOSOME 13q14 DELETION SYNDROME (OMIM:613884)
| ..Chromosome 15q13.3 Microdeletion Syndrome (C567439)
| ..Chromosome 15q26-Qter Deletion Syndrome (C567232)
| ..CHROMOSOME 17p13.1 DELETION SYNDROME (OMIM:613776)
| ..Chromosome 17q21.31 Deletion Syndrome (C566476)
| ..Chromosome 18 Pericentric Inversion (C563734)
| ..Chromosome 1q21.1 Duplication Syndrome (C567290)
| ..Chromosome 1q43-Q44 Deletion Syndrome (C567346)
| ..Chromosome 2q31.2 Deletion Syndrome (C567344)
| ..Chromosome 2q32-Q33 Deletion Syndrome (C567350)
| ..Chromosome 3q29 Deletion Syndrome (C567184)
| ..CHROMOSOME 7q11.23 DELETION SYNDROME, DISTAL, 1.2-MB (OMIM:613729)
| ..CHROMOSOME 8q21.11 DELETION SYNDROME (OMIM:614230)
| ..Chromosome Xq28 Duplication Syndrome (C567580)
| ..Chudley-Rozdilsky syndrome (C535458)
| ..Cleft Palate, Isolated, And Mental Retardation (C566991)
| ..Coffin syndrome 1 (C536435)
| ..Coffin-Siris syndrome (C536436)
| ..Cohen syndrome (C536438)
| ..Coloboma, cleft lip/palate and mental retardation syndrome (C535971)
| ..Coloboma, Uveal, with Cleft Lip and Palate and Mental Retardation (C565173)
| ..Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome (C566623)
| ..Convulsive Disorder, Familial, with Prenatal or Early Onset (C565678)
| ..Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia (C564509)
| ..Cortical Blindness, Retardation, and Postaxial Polydactyly (C565674)
| ..Craniofaciofrontodigital Syndrome (C567298)
| ..Craniosynostosis Mental Retardation Clefting Syndrome (C565663)
| ..Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig (C565664)
| ..Cree Mental Retardation Syndrome (C564654)
| ..Cri-du-Chat Syndrome (D003410) 6
| ..Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly (C563840)
| ..Cubitus Valgus with Mental Retardation and Unusual Facies (C564510)
| ..Curatolo Cilio Pessagno syndrome (C536701)
| ..Cutis Verticis Gyrata and Mental Deficiency (C565661)
| ..Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality (C565658)
| ..Davis Lafer syndrome (C535989)
| ..De Barsy syndrome (C535990)
| ..De Lange Syndrome (D003635) 1
| ..De Sanctis-Cacchione syndrome (C535992)
| ..Deafness, Cochlear, with Myopia and Intellectual Impairment (C565645)
| ..Deafness, congenital onychodystrophy, recessive form (C538204)
| ..Devriendt syndrome (C535947)
| ..Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification (C565632)
| ..Dicarboxylicaminoaciduria (C536171)
| ..Digitorenocerebral Syndrome (C563052)
| ..Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, And Mental Retardation (C566408)
| ..Down Syndrome (D004314) 6
| ..Dubowitz syndrome (C535718)
| ..Duker Weiss Siber syndrome (C535719)
| ..Duplication 15q11-q13 Syndrome (C557830)
| ..Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone (C565615)
| ..Dyggve-Melchior-Clausen syndrome (C535726)
| ..Dysequilibrium syndrome (C535731)
| ..Dysmyelination With Jaundice (C565610)
| ..Ectodermal dysplasia mental retardation syndactyly (C538018)
| ..Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum (C565605)
| ..Elliott Ludman Teebi syndrome (C536204)
| ..Emanuel syndrome (C535733)
| ..Emphysema, Congenital, With Deafness, Penoscrotal Web, And Mental Retardation (C566519)
| ..Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration (C565594)
| ..Epidermolysis bullosa, late-onset localized junctional, with mental retardation (C535492)
| ..Epilepsy telangiectasia (C535497)
| ..Epilepsy, Female-Restricted, with Mental Retardation (C564715)
| ..Epilepsy, Photogenic, with Spastic Diplegia and Mental Retardation (C565587)
| ..Facial Abnormalities, Kyphoscoliosis, and Mental Retardation (C565580)
| ..Faciocardiomelic Syndrome (C567176)
| ..Fallot complex with severe mental and growth retardation (C536608)
| ..Feingold Trainer syndrome (C536179)
| ..Fg Syndrome 5 (C564480)
| ..Fibromatosis, Gingival, with Hypertrichosis and Mental Retardation (C565331)
| ..Filippi syndrome (C538152)
| ..Fine-Lubinsky syndrome (C537933)
| ..Fitzsimmons Walson Mellor syndrome (C537937)
| ..Fitzsimmons-McLachlan-Gilbert syndrome (C537058)
| ..Fountain syndrome (C537270)
| ..FRONTONASAL DYSPLASIA 3 (OMIM:613456)
| ..Fryns-Aftimos Syndrome (C565258)
| ..Garret Tripp syndrome (C535646)
| ..Genitopatellar Syndrome (C565255)
| ..Goniodysgenesis-Mental Retardation-Short Stature Syndrome (C564214)
| ..Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia (C565755)
| ..Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate (C537405)
| ..Growth Deficiency and Mental Retardation with Facial Dysmorphism (C565358)
| ..Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy (C564264)
| ..Growth mental deficiency syndrome of Myhre (C537620)
| ..Gurrieri Sammito Bellussi syndrome (C537625)
| ..Hair defect with photosensitivity and mental retardation (C537628)
| ..Hall Riggs mental retardation syndrome (C535623)
| ..Harrod Doman Keele syndrome (C535635)
| ..Haspeslagh Fryns Muelenaere syndrome (C535844)
| ..Histidinemia (C538320)
| ..Hittner Hirsch Kreh syndrome (C538323)
| ..Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate (C564484)
| ..Hooft disease (C535329)
| ..Hordnes Engebretsen Knudtson syndrome (C536067)
| ..Hoyeraal Hreidarsson syndrome (C536068)
| ..Hunter-McAlpine syndrome (C536072)
| ..Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation (C565736)
| ..Hydroxylysinuria (C565502)
| ..Hyperleucine-Isoleucinemia (C562674)
| ..Hyperlysinemia Due To Defect In Lysine Transport Into Mitochondria (C565499)
| ..Hyperphosphatasia with Mental Retardation (C565495) 2
| ..Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility (C566988)
| ..Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features (C538391)
| ..Hyperuricemia, Infantile, with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase (C565489)
| ..Hypogonadism with Low-Grade Mental Deficiency and Microcephaly (C565482)
| ..Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies (C564406)
| ..Hypoparathyroidism-retardation-dysmorphism syndrome (C537157)
| ..Hypospadias-Mental Retardation Syndrome (C563067)
| ..Hypotonia-Cystinuria Syndrome (C564710)
| ..Ichthyosis and male hypogonadism (C537365)
| ..Ichthyosis, mental retardation, dwarfism, and renal impairment (C536274)
| ..Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin (C563402)
| ..Indolylacroyl Glycinuria with Mental Retardation (C565466)
| ..Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation (C565462)
| ..Jagell Holmgren Hofer syndrome (C537364)
| ..Johanson Blizzard syndrome (C535880)
| ..Joubert Syndrome 7 (C566916)
| ..Joubert Syndrome 9 (C567364)
| ..Kahrizi Syndrome (C567196)
| ..Kaler Garrity Stern syndrome (C537706)
| ..Kapur Toriello syndrome (C537008)
| ..Karandikar Maria Kamble syndrome (C537009)
| ..Katsantoni Papadakou Lagoyanni syndrome (C537012)
| ..Kaufman oculocerebrofacial syndrome (C537013)
| ..KBG syndrome (C537015)
| ..Kleefstra Syndrome (C563043)
| ..Koone Rizzo Elias syndrome (C537023)
| ..Kosztolanyi syndrome (C537024)
| ..Kozlowski Ouvrier syndrome (C537508)
| ..Kozlowski Rafinski Klicharska syndrome (C537509)
| ..Kozlowski-Krajewska syndrome (C537615)
| ..Kuzniecky syndrome (C538091)
| ..Lambert syndrome (C538396)
| ..Lenz Majewski hyperostotic dwarfism (C537115)
| ..Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis (C565440)
| ..Light Fixation Seizure Syndrome (C566367)
| ..Limb Defects, Distal Transverse, with Mental Retardation and Spasticity (C565438)
| ..Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones (C564283)
| ..Lissencephaly 3 (C566908)
| ..Lowry Maclean syndrome (C537037)
| ..Lowry Wood syndrome (C537038)
| ..Lubani Al Saleh Teebi syndrome (C537039)
| ..Lynch Lee Murday syndrome (C537713)
| ..Macrogyria, pseudobulbar palsy and mental retardation (C537722)
| ..Macrosomia obesity macrocephaly ocular abnormalities (C535812)
| ..Male pseudohermaphroditism/mental retardation syndrome, Verloes type (C535693)
| ..Mandibulofacial Dysostosis with Mental Deficiency (C565420)
| ..Marfanoid Mental Retardation Syndrome, Autosomal (C565410)
| ..Marinesco-Sjogren-like syndrome (MSLS) (C535913)
| ..Martin-Probst Deafness-Mental Retardation Syndrome (C564495)
| ..Martsolf syndrome (C536028)
| ..MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome (C536029)
| ..McDonough syndrome (C538158)
| ..Mental and Growth Retardation with Amblyopia (C563591)
| ..Mental Retardation associated with Psoriasis (C564107)
| ..Mental retardation Mietens Weber type (C537444)
| ..Mental retardation Smith Fineman Myers type (C537445)
| ..Mental retardation spasticity ectrodactyly (C537446)
| ..Mental retardation syndrome, Belgian type (C537447)
| ..MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES (OMIM:613670)
| ..Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature (C563810)
| ..Mental Retardation with Spastic Paraplegia (C564099)
| ..Mental retardation Wolff type (C537448)
| ..MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS (OMIM:613671)
| ..Mental Retardation, Autosomal Dominant 1 (C566947)
| ..MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
| ..Mental Retardation, Autosomal Dominant 3 (C567241)
| ..Mental Retardation, Autosomal Dominant 4 (C567240)
| ..Mental Retardation, Autosomal Dominant 5 (C567234)
| ..Mental Retardation, Autosomal Recessive 1 (C565406)
| ..Mental Retardation, Autosomal Recessive 10 (C567013)
| ..Mental Retardation, Autosomal Recessive 11 (C567012)
| ..Mental Retardation, Autosomal Recessive 12 (C567019)
| ..Mental Retardation, Autosomal Recessive 13 (C567714)
| ..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 16 (OMIM:614208)
| ..Mental Retardation, Autosomal Recessive 2 (C564404)
| ..Mental Retardation, Autosomal Recessive 3 (C563929)
| ..Mental Retardation, Autosomal Recessive 4 (C567008)
| ..Mental Retardation, Autosomal Recessive 5 (C567018)
| ..Mental Retardation, Autosomal Recessive 6 (C567017)
| ..Mental Retardation, Autosomal Recessive 7 (C567016)
| ..Mental Retardation, Autosomal Recessive 8 (C567015)
| ..Mental Retardation, Autosomal Recessive 9 (C567014)
| ..Mental Retardation, Buenos Aires Type (C563095)
| ..Mental Retardation, Fra12a Type (C566980)
| ..Mental Retardation, Joint Hypermobility, And Skin Laxity, With Or Without Metabolic Abnormalities (C567209)
| ..Mental retardation, keratoconus, febrile seizures, and sinoatrial block (C537452)
| ..Mental retardation, macrocephaly, short stature and craniofacial dysmorphism (C537453)
| ..Mental Retardation, Microcephaly, Epilepsy, And Coarse Face (C563342)
| ..Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism (C565246)
| ..Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration (C566429)
| ..Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations (C565248)
| ..Mental Retardation, Skeletal Dysplasia, and Abducens Palsy (C564101)
| ..Mental Retardation, X-Linked (D038901) 134
| ..Mental Retardation, X-Linked, Syndromic 12 (C564106)
| ..Mental Retardation, X-Linked, Syndromic, Christianson Type (C567484)
| ..Mental Retardation, X-Linked, Syndromic, Turner Type (C567476)
| ..Mental Retardation, X-Linked, Syndromic, Zdhhc9-Related (C567586)
| ..Mental Retardation, X-Linked, With Panhypopituitarism (C567485)
| ..Mental Retardation, X-Linked, Znf711-Related (C567583)
| ..Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness (C565396)
| ..Methionine Malabsorption Syndrome (C562682)
| ..Microcephalic primordial dwarfism Toriello type (C537321)
| ..Microcephaly cervical spine fusion anomalies (C537325)
| ..Microcephaly deafness syndrome (C537326)
| ..Microcephaly seizures mental retardation heart disorders (C537544)
| ..Microcephaly sparse hair mental retardation seizures (C537545)
| ..Microcephaly with Mental Retardation and Digital Anomalies (C567101)
| ..Microcephaly, corpus callosum dysgenesis and cleft lip-palate (C537547)
| ..Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation (C566361)
| ..Microcephaly, Macrotia, And Mental Retardation (C566525)
| ..Microphthalmia and mental deficiency (C537462)
| ..Mirhosseini-Holmes-Walton syndrome (C538367)
| ..Mohr-Tranebjaerg syndrome (C535808)
| ..Mollica Pavone Antener syndrome (C535809)
| ..MOMES Syndrome (C564660)
| ..Morillo-Cucci Passarge syndrome (C536983)
| ..MORM syndrome (C536984)
| ..Mowat-Wilson syndrome (C536990)
| ..Muscular Dystrophy, Congenital, associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation (C565506)
| ..Muscular Dystrophy, Congenital, plus Mental Retardation (C565505)
| ..Muscular Dystrophy, Congenital, Type 1D (C563844)
| ..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 (OMIM:613155)
| ..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 (OMIM:613156)
| ..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 (OMIM:613151)
| ..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 (OMIM:608840)
| ..Myotonia with Skeletal Abnormalities and Mental Retardation (C564967)
| ..N syndrome (C536108)
| ..Nakamura Osame syndrome (C538335)
| ..Neuhauser syndrome (C536143)
| ..Neurofaciodigitorenal syndrome (C537388)
| ..Neurologic Disease, Infantile Multisystem, with Osseous Fragility (C564954)
| ..NF1 Microdeletion Syndrome (C563524)
| ..NF1 Microduplication Syndrome (C567173)
| ..Nicolaides Baraitser syndrome (C536116)
| ..Oculodigitoesophagoduodenal syndrome (C537734)
| ..Oliver Syndrome (C564931)
| ..Oliver-McFarlane syndrome (C536554)
| ..Onychotrichodysplasia and neutropenia (C537752)
| ..Ophthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency (C563498)
| ..Opitz trigonocephaly syndrome (C537418)
| ..Osteolysis syndrome recessive (C536052)
| ..PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS (OMIM:600176)
| ..Palant cleft palate syndrome (C538102)
| ..Pallister W syndrome (C538106)
| ..Parastremmatic dwarfism (C537172)
| ..Parkinsonism, early onset with mental retardation (C537179)
| ..Pashayan syndrome (C536303)
| ..Patella hypoplasia mental retardation (C536308)
| ..Pavone Fiumara Rizzo syndrome (C536313)
| ..Perisylvian syndrome (C536658)
| ..Perniola Krajewska Carnevale syndrome (C536660)
| ..Pfeiffer Kapferer syndrome (C537887)
| ..Pfeiffer Mayer syndrome (C537888)
| ..Pfeiffer Tietze Welte syndrome (C537891)
| ..Pilotto syndrome (C537400)
| ..Pitt-Hopkins syndrome (C537403)
| ..Piussan Lenaerts Mathieu syndrome (C537511)
| ..Prader-Willi Syndrome (D011218) 2
| ..Primrose syndrome (C536420)
| ..Prolonged Bleeding Time, Brachydactyly, and Mental Retardation (C564207)
| ..Proud Syndrome (C563110)
| ..Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness (C562894)
| ..Pseudoaminopterin syndrome (C535823)
| ..Pseudouridinuria and Mental Defect (C564864)
| ..Pterygium colli mental retardation digital anomalies (C535831)
| ..Qazi Markouizos syndrome (C536259)
| ..Radioulnar synostosis retinal pigment abnormalities (C536270)
| ..Ramon Syndrome (C535285)
| ..Ramos Arroyo Clark syndrome (C535286)
| ..Reardon Wilson Cavanagh syndrome (C535295)
| ..Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation (C567038)
| ..Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism (C564841)
| ..Richards-Rundle syndrome (C535674)
| ..Robin Sequence with Distinctive Facial Appearance and Brachydactyly (C563880)
| ..Rolandic Epilepsy, Mental Retardation, And Speech Dyspraxia, Autosomal Dominant (C563392)
| ..Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked (C564467)
| ..Rubinstein-Taybi Syndrome (D012415) 2
| ..Rud Syndrome (C535878)
| ..Ruzicka Goerz Anton syndrome (C537192)
| ..Sammartino De Crecchio Syndrome (C537229)
| ..Sao Paulo MCA/MR Syndrome (C563119)
| ..Scaphocephaly, Maxillary Retrusion, And Mental Retardation (C566511)
| ..SCARF syndrome (C536625)
| ..Schinzel-Giedion syndrome (C536632)
| ..Schofer Beetz Bohl syndrome (C535949)
| ..Scholte syndrome (C536638)
| ..Schrander-Stumpel Theunissen Hulsmans syndrome (C536639)
| ..Sclerosing bone dysplasia mental retardation (C537523)
| ..Scott Bryant Graham syndrome (C537528)
| ..Seckel Syndrome 3 (C563881)
| ..SECKEL SYNDROME 4 (OMIM:613676)
| ..Seemanova Lesny syndrome (C537536)
| ..SeSAME syndrome (C557674)
| ..Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, And Atypical Clefting (C566989)
| ..Simpson-Golabi-Behmel syndrome (C537340)
| ..Singh Chhaparwal Dhanda syndrome (C537341)
| ..Skeletal Defects, Genital Hypoplasia, And Mental Retardation (C567306)
| ..Sketetal dysplasia coarse facies mental retardation (C536671)
| ..Spastic Ataxia (C564815)
| ..Spastic diplegia infantile type (C537481)
| ..Spastic paraplegia 14, autosomal recessive (C537486)
| ..Spastic Paraplegia 18, Autosomal Recessive (C567628)
| ..Spastic Paraplegia 32, Autosomal Recessive (C566983)
| ..Spastic paraplegia epilepsy mental retardation (C536869)
| ..Spastic Paraplegia, Ataxia, And Mental Retardation (C564378)
| ..Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy (C566682)
| ..Spastic Paresis, Glaucoma, and Mental Retardation (C564809)
| ..Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation (C564808)
| ..Spinal Muscular Atrophy with Mental Retardation (C564807)
| ..Spinal Muscular Atrophy with Microcephaly and Mental Subnormality (C564806)
| ..Spondyloepimetaphyseal dysplasia, Genevieve type (C535785)
| ..Spondyloepiphyseal Dysplasia Tarda with Mental Retardation (C564796)
| ..Spondyloepiphyseal Dysplasia With Coronal Craniosynostosis, Cataracts, Cleft Palate, And Mental Retardation (C566515)
| ..Stevenson-Carey Syndrome (C567446)
| ..Sucrosuria, Hiatus Hernia and Mental Retardation (C564792)
| ..SUPERNUMERARY DER(22)t(8 (OMIM:613700)
| ..Tamari Goodman syndrome (C536896)
| ..Temple-Baraitser Syndrome (C567516)
| ..Temtamy preaxial brachydactyly syndrome (C536958)
| ..Tetrasomy X (C536502)
| ..Tonoki syndrome (C536967)
| ..Trichodental syndrome (C536551)
| ..TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH (OMIM:601675)
| ..Tryptophanuria With Dwarfism (C562658)
| ..Tsukahara Syndrome (C566376)
| ..Ulna hypoplasia with mental retardation (C536934)
| ..Ulnar Hypoplasia with Mental Retardation (C564757)
| ..Upton Young syndrome (C536473)
| ..Van Bogaert-Hozay syndrome (C536526)
| ..Van Den Bosch Syndrome (C563129)
| ..Van Maldergem Wetzburger Verloes syndrome (C536530)
| ..Vasquez Hurst Sotos syndrome (C536533)
| ..Verloes Gillerot Fryns syndrome (C536539)
| ..Viljoen Kallis Voges syndrome (C536349)
| ..Vitiligo, Progressive, with Mental Retardation and Urethral Duplication (C564739)
| ..Volcke Soekarman syndrome (C537718)
| ..WAGR Syndrome (D017624) 2
| ..Walker Dyson syndrome (C536568)
| ..Warburg Sjo Fledelius syndrome (C536681)
| ..Warburton Anyane Yeboa syndrome (C536682)
| ..Wiedemann Grosse Dibbern syndrome (C536704)
| ..Wiedemann Oldigs Oppermann syndrome (C536705)
| ..Williams Syndrome (D018980) 1
| ..Winship Viljoen Leary syndrome (C536711)
| ..Woodhouse Sakati syndrome (C536742)
| ..Worster Drought syndrome (C536747)
| ..Yorifuji Okuno syndrome (C536714)
| ..Young Hughes syndrome (C536715)
| ..Young Simpson syndrome (C536717)
| ..Zazam Sheriff Phillips syndrome (C536723)
| ..Zechi-Ceide Syndrome (C567865)
| ..Zerres Rietschel Majewski syndrome (C536724)
| ..Zlotogora-Ogur syndrome (C536726)
| ..Zunich neuroectodermal syndrome (C536729)
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Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD
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Term ID: | 2283 |
Name: | Chromosome 2q32-Q33 Deletion Syndrome |
Definition: | |
Alternative IDs: | |
ParentIDs: | MESH:D000015|MESH:D002872|MESH:D008607 |
TreeNumbers: | C10.597.606.643/C567350 |C16.131.077/C567350 |C23.550.210.050.500.500/C567350 |C23.888.592.604.646/C567350 |F03.550.600/C567350 |
Synonyms: | |
Slim Mappings: | Congenital abnormality|Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms |
Reference: |
MedGen: C567350
MeSH: C567350
OMIM: 612313;
Genes: SATB2; | Phenotypes | | Disease Causing ClinVar Variants | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_015265.3(SATB2):c.1169C>T (p.Thr390Ile) | 23314 | SATB2 | Likely pathogenic | 863224917 | RCV000199456; | N | Gene:100190983,MedGen:C2676739,OMIM:612313,ORPHA:251019 | 2 | 200213428 | 200213428 | NM_015265.3:c.1169C>T | NP_056080.1:p.Thr390Ile | NC_000002.11:g.200213428G>A | - | C2676739 612313 Chromosome 2q32-q33 deletion syndrome | | | NM_015265.3(SATB2):c.1131_1132delGT (p.Ser378Profs) | 23314 | SATB2 | Pathogenic | -1 | RCV000209866; | N | Gene:100190983,MedGen:C2676739,OMIM:612313,ORPHA:251019 | 2 | 200213464 | 200213466 | NM_015265.3:c.1131_1132delGT | NP_056080.1:p.Ser378Profs | | - | C2676739 612313 Chromosome 2q32-q33 deletion syndrome | | | NM_015265.3(SATB2):c.715C>T (p.Arg239Ter) | 23314 | SATB2 | Pathogenic | 137853127 | RCV000002627; | N | Gene:100190983,MedGen:C2676739,OMIM:612313,ORPHA:251019 | 2 | 200213882 | 200213882 | NM_015265.3:c.715C>T | NP_056080.1:p.Arg239Ter | NC_000002.11:g.200213882G>A | OMIM Allelic Variant:608148.0001 | C2676739 612313 Chromosome 2q32-q33 deletion syndrome | | | NG_016976.1:g.(77205_77207)_(112216_112218)dup | 23314 | SATB2 | Pathogenic | -1 | RCV000201263; | N | Gene:100190983,MedGen:C2676739,OMIM:612313,ORPHA:251019 | 2 | 200228772 | 200263785 | - | - | | OMIM Allelic Variant:608148.0002 | C2676739 612313 Chromosome 2q32-q33 deletion syndrome | | | NM_001172509.1(SATB2):c.170_346dup177 | 23314 | SATB2 | Pathogenic | -1 | RCV000202349; | N | Gene:100190983,MedGen:C2676739,OMIM:612313,ORPHA:251019 | 2 | 200298061 | 200298237 | NM_001172509.1:c.170_346dup177 | | | OMIM Allelic Variant:608148.0003 | C2676739 612313 Chromosome 2q32-q33 deletion syndrome | | |
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