MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Intellectual Disability (D008607)
..Starting node ..MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 (OMIM:615074)
Child Nodes:
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)
..AL-RAQAD SYNDROME (OMIM:616459)
..ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (OMIM:615510)
..Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus (C565968)
..ALAZAMI SYNDROME (OMIM:615071)
..ALAZAMI-YUAN SYNDROME (OMIM:617126)
..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) L: 00444;
..Arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies (C535385)
..Arthrogryposis, Distal, with Mental Retardation and Characteristic Facies (C565940)
..ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES (OMIM:615553)
..AU-KLINE SYNDROME (OMIM:616580)
..Aughton syndrome (C538269)
..Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation (C565923)
..Baraitser Rodeck Garner syndrome (C537906)
..BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
..Battaglia Neri syndrome (C537662)
..BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
..Behr syndrome (C537669)
..Bellini Chiumello Rimoldi syndrome (C535652)
..Biemond syndrome II (C565902)
..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)
..BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME (OMIM:615722)
..Boudhina Yedes Khiari syndrome (C537939)
..Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And (C564519)
..BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
..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)
..CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
..CEREBELLOFACIODENTAL SYNDROME (OMIM:616202)
..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, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION (OMIM:120433)
..Coloboma, Uveal, with Cleft Lip and Palate and Mental Retardation (C565173)
..Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome (C566623)
..CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
..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, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION (OMIM:245570)
..EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME (OMIM:616577)
..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)
..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)
..GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY (OMIM:617093)
..Gurrieri Sammito Bellussi syndrome (C537625)
..Hair defect with photosensitivity and mental retardation (C537628)
..Hall Riggs mental retardation syndrome (C535623)
..HAREL-YOON SYNDROME (OMIM:617183)
..Harrod Doman Keele syndrome (C535635)
..Haspeslagh Fryns Muelenaere syndrome (C535844)
..HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
..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)
..HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION (OMIM:616418)
..Hypoparathyroidism-retardation-dysmorphism syndrome (C537157)
..Hypospadias-Mental Retardation Syndrome (C563067)
..Hypotonia-Cystinuria Syndrome (C564710) L: 00416;
..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)
..INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA (OMIM:617173)
..INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS (OMIM:617333)
..INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
..INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD (OMIM:617450)
..INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN (OMIM:617101)
..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)
..KEPPEN-LUBINSKY SYNDROME (OMIM:614098)
..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)
..LAMB-SHAFFER SYNDROME (OMIM:616803)
..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)
..LUSCAN-LUMISH SYNDROME (OMIM:616831)
..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)
..MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION (OMIM:613926)
..MEND SYNDROME (OMIM:300960)
..Mental and Growth Retardation with Amblyopia (C563591)
..MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS (OMIM:616789)
..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 10 (OMIM:614256)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 11 (OMIM:614257)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 (OMIM:614563)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 (OMIM:615074)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 (OMIM:615075)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 2 (OMIM:614113)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 (OMIM:612337)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 (OMIM:615761)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 (OMIM:615828)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 27 (OMIM:615866)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
..Mental Retardation, Autosomal Dominant 3 (C567241)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 30 (OMIM:616083)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 (OMIM:616158)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 (OMIM:616268)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 33 (OMIM:616311)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 34 (OMIM:616351)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 (OMIM:616355)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 (OMIM:616362)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 38 (OMIM:616393)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 39 (OMIM:616521)
..Mental Retardation, Autosomal Dominant 4 (C567240)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 (OMIM:616579)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 41 (OMIM:616944)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 (OMIM:617061)
..Mental Retardation, Autosomal Dominant 5 (C567234)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES (OMIM:613970)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 (OMIM:614255)
..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 14 (OMIM:614020)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 (OMIM:614202)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 16 (OMIM:614208)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 (OMIM:614249)
..Mental Retardation, Autosomal Recessive 2 (C564404)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27 (OMIM:614340)
..Mental Retardation, Autosomal Recessive 3 (C563929)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY (OMIM:614499)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36 (OMIM:615286)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37 (OMIM:615493)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 (OMIM:615516)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 (OMIM:615541)
..Mental Retardation, Autosomal Recessive 4 (C567008)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 (OMIM:615599)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 (OMIM:615637)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43 (OMIM:615817)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44 (OMIM:615942)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45 (OMIM:615979)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 (OMIM:616116)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47 (OMIM:616193)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 (OMIM:616269)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49 (OMIM:616281)
..Mental Retardation, Autosomal Recessive 5 (C567018)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 50 (OMIM:616460)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51 (OMIM:616739)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 52 (OMIM:616887)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53 (OMIM:616917)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 54 (OMIM:617028)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55 (OMIM:617051)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 56 (OMIM:617125)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57 (OMIM:617188)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58 (OMIM:617270)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 59 (OMIM:617323)
..Mental Retardation, Autosomal Recessive 6 (C567017)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60 (OMIM:617432)
..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 C:4
..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 WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION (OMIM:152950)
..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) L: 00113;
..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, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY (OMIM:617404)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 (OMIM:613155)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 (OMIM:615351)
..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)
..NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT (OMIM:614254)
..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)
..OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
..Oliver Syndrome (C564931)
..Oliver-McFarlane syndrome (C536554)
..Onychotrichodysplasia and neutropenia (C537752)
..Ophthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency (C563498)
..Opitz trigonocephaly syndrome (C537418)
..OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES (OMIM:616732)
..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)
..PHOSPHOSERINE PHOSPHATASE DEFICIENCY (OMIM:614023)
..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)
..TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
..Tamari Goodman syndrome (C536896)
..TATTON-BROWN-RAHMAN SYNDROME (OMIM:615879)
..Temple-Baraitser Syndrome (C567516)
..Temtamy preaxial brachydactyly syndrome (C536958)
..TENORIO SYNDROME (OMIM:616260)
..Tetrasomy X (C536502)
..Tonoki syndrome (C536967)
..Trichodental syndrome (C536551)
..TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
..Trisomy 13 Syndrome (D000073839)
..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)
..WIEDEMANN-STEINER SYNDROME (OMIM:605130)
..Williams Syndrome (D018980) 1
..Winship Viljoen Leary syndrome (C536711)
..Woodhouse Sakati syndrome (C536742)
..Worster Drought syndrome (C536747)
..XIA-GIBBS SYNDROME (OMIM:615829)
..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)
..ZTTK SYNDROME (OMIM:617140)
..Zunich neuroectodermal syndrome (C536729)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

7639

Name:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 18

Definition:

Alternative IDs:

DO:DOID:0070048

ParentIDs:

MESH:D008607

TreeNumbers:

C10.597.606.360/615074 |C23.888.592.604.646/615074 |F03.625.539/615074

Synonyms:

MRD18

Slim Mappings:

Mental disorder|Nervous system disease|Signs and symptoms

Reference:

MedGen: 615074
MeSH: 615074
OMIM: 615074;
MSeqDR :
Genes: GATAD2B; TBC1D24;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003593	Infantile onset
3	HP:0000581	Blepharophimosis
4	HP:0000337	Broad forehead
5	HP:0000455	Broad nasal tip	HP:0040284
6	HP:0000490	Deeply set eye
7	HP:0001263	Global developmental delay NAMDC: Delayed development (evidence of at least one of A through F)	HP:0040284
8	HP:0001263	Global developmental delay NAMDC: Mental retardation	HP:0040284
9	HP:0000752	Hyperactivity	HP:0040283
10	HP:0000540	Hypermetropia
11	HP:0000316	Hypertelorism
12	HP:0000748	Inappropriate laughter
13	HP:0010864	Intellectual disability, severe	HP:0040284
14	HP:0002463	Language impairment	HP:0040284
15	HP:0100807	Long fingers
16	HP:0010511	Long toe
17	HP:0001319	Neonatal hypotonia NAMDC: Floppy baby
18	HP:0002465	Poor speech
19	HP:0000322	Short philtrum	HP:0040284
20	HP:0008070	Sparse hair	HP:0040284
21	HP:0000486	Strabismus	HP:0040284
22	HP:0000219	Thin upper lip vermilion
23	HP:0100033	Tics	HP:0040283
24	HP:0000154	Wide mouth
25	HP:0000431	Wide nasal bridge

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NC_000001.10:g.(?_153753742)_(153791156_?)del	57459	GATAD2B	Pathogenic	-1	RCV002286876;	N	MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686	1	153753742	153791156	-1	-
NM_020699.4(GATAD2B):c.1780T>C (p.Ter594Gln)	57459	GATAD2B	Likely pathogenic	rs1674245097	RCV001331125;	N	MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686	1	153782655	153782655	153782655	-
NM_020699.4(GATAD2B):c.1753A>G (p.Ile585Val)	57459	GATAD2B	Conflicting interpretations of pathogenicity	rs372276373	RCV000192973\|RCV001336500\|RCV002517939;	N	MedGen:CN169374\|MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686\|MedGen:CN517202	1	153782682	153782682	NC_000001.10:g.153782682T>C	ClinGen:CA206155	CN169374 not specified;
NM_020699.4(GATAD2B):c.1661C>G (p.Ala554Gly)	57459	GATAD2B	Conflicting interpretations of pathogenicity	-1	RCV001665172\|RCV001839055;	N	MedGen:CN517202\|MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686	1	153782774	153782774	153782774	-
NM_020699.4(GATAD2B):c.1621G>T (p.Val541Leu)	57459	GATAD2B	Uncertain significance	-1	RCV002276507\|RCV003101573;	N	MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686\|MeSH:D030342,MedGen:C0950123	1	153784234	153784234	153784234	-
NM_020699.4(GATAD2B):c.1537C>T (p.Gln513Ter)	57459	GATAD2B	Likely pathogenic	rs1553187362	RCV000656415;	N	MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686	1	153784318	153784318	1:g.153784318G>A	-	C3554448 615074 Mental retardation, autosomal dominant 18;
NM_020699.4(GATAD2B):c.1446G>T (p.Gln482His)	57459	GATAD2B	Likely pathogenic	rs1674312870	RCV001197422;	N	MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686	1	153784582	153784582	1:g.153784582C>A	-
NM_020699.4(GATAD2B):c.1441C>T (p.Gln481Ter)	57459	GATAD2B	Likely pathogenic	-1	RCV001270377;	N	MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686	1	153784587	153784587	1:g.153784587G>A	-
NM_020699.4(GATAD2B):c.1438C>T (p.Gln480Ter)	57459	GATAD2B	Pathogenic/Likely pathogenic	rs1674313030	RCV001267967\|RCV002471073;	N	MedGen:CN517202\|MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686	1	153784590	153784590	1:g.153784590G>A	-
NM_020699.4(GATAD2B):c.1432C>T (p.Arg478Ter)	57459	GATAD2B	Pathogenic	rs761820222	RCV000256141\|RCV000505192;	N	MedGen:CN517202\|MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686	1	153784596	153784596	NC_000001.10:g.153784596G>A	ClinGen:CA10588267
NM_020699.4(GATAD2B):c.1429C>T (p.Gln477Ter)	57459	GATAD2B	Pathogenic	rs1553187443	RCV000503533\|RCV002527254;	N	MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686\|MedGen:CN517202	1	153784599	153784599	1:g.153784599G>A	ClinGen:CA342581394	C3554448 615074 Mental retardation, autosomal dominant 18;
NM_020699.4(GATAD2B):c.1426G>T (p.Glu476Ter)	57459	GATAD2B	Pathogenic	rs1553187446	RCV000523954;	N	MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686	1	153784602	153784602	1:g.153784602C>A	ClinGen:CA342581406	C3554448 615074 Mental retardation, autosomal dominant 18;
NM_020699.4(GATAD2B):c.1411C>T (p.Gln471Ter)	57459	GATAD2B	Pathogenic	-1	RCV000760288;	N	MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686	1	153785734	153785734	NC_000001.10:g.153785734G>A	-
NM_020699.4(GATAD2B):c.1408C>T (p.Gln470Ter)	57459	GATAD2B	Pathogenic	rs587776931	RCV000032869\|RCV001266137;	N	MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686\|MeSH:D030342,MedGen:C0950123	1	153785737	153785737	1:g.153785737G>A	ClinGen:CA130443,OMIM:614998.0001	C3554448 615074 Mental retardation, autosomal dominant 18;
NM_020699.4(GATAD2B):c.1390G>A (p.Ala464Thr)	57459	GATAD2B	Uncertain significance	-1	RCV002291113;	N	MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686	1	153785755	153785755	153785755	-
NM_020699.4(GATAD2B):c.1280T>G (p.Phe427Cys)	57459	GATAD2B	Uncertain significance	-1	RCV001809233;	N	MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686	1	153785865	153785865	153785865	-
NM_020699.4(GATAD2B):c.1271G>A (p.Arg424His)	57459	GATAD2B	Uncertain significance	rs375391021	RCV000500476\|RCV003129873\|RCV003105930;	N	MedGen:CN169374\|MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686\|MedGen:CN517202	1	153785874	153785874	NC_000001.10:g.153785874C>T	ClinGen:CA1120669	CN169374 not specified;
NM_020699.4(GATAD2B):c.1258T>C (p.Cys420Arg)	57459	GATAD2B	Pathogenic	rs1674357007	RCV001261868;	N	MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686	1	153785887	153785887	1:g.153785887A>G	OMIM:614998.0007
NM_020699.4(GATAD2B):c.1241G>A (p.Arg414Gln)	57459	GATAD2B	Pathogenic/Likely pathogenic	rs1057521041	RCV000433516\|RCV000986415;	N	MedGen:CN517202\|MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686	1	153785904	153785904	NC_000001.10:g.153785904C>T	ClinGen:CA16603415,OMIM:614998.0008
NM_020699.4(GATAD2B):c.1198_1199del (p.Ser400fs)	57459	GATAD2B	Pathogenic/Likely pathogenic	rs1674480467	RCV001264836\|RCV001268781;	N	MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686\|MedGen:CN517202	1	153788766	153788767	1:g.153788766_153788767del	-
NM_020699.4(GATAD2B):c.1154A>G (p.Asn385Ser)	57459	GATAD2B	Likely benign	rs1057519401	RCV000417090;	N	MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686	1	153788811	153788811	NC_000001.10:g.153788811T>C	ClinGen:CA16044385	C3554448 615074 Mental retardation, autosomal dominant 18;
NM_020699.4(GATAD2B):c.1106C>T (p.Pro369Leu)	57459	GATAD2B	Uncertain significance	-1	RCV003135333;	N	MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686	1	153788859	153788859	NC_000001.10:g.153788859G>A	-
NM_020699.4(GATAD2B):c.1075C>T (p.Gln359Ter)	57459	GATAD2B	Pathogenic	rs1557781252	RCV000708569;	N	MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686	1	153788890	153788890	1:g.153788890G>A	-	C3554448 615074 Mental retardation, autosomal dominant 18;
NM_020699.4(GATAD2B):c.1020C>T (p.Ser340=)	57459	GATAD2B	Benign/Likely benign	rs140272058	RCV000904585\|RCV001818774\|RCV002505316;	N	MedGen:CN517202\|MedGen:CN169374\|MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686	1	153788945	153788945	1:g.153788945G>A	-
NM_020699.4(GATAD2B):c.981del (p.Thr328fs)	57459	GATAD2B	Pathogenic	rs797045594	RCV000194804;	N	MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686	1	153788984	153788984	NC_000001.10:g.153788986del	ClinGen:CA209223
NM_020699.4(GATAD2B):c.980_981del (p.Gly327fs)	57459	GATAD2B	Likely pathogenic	-1	RCV001808147;	N	MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686	1	153788984	153788985	153788983	-
NM_020699.4(GATAD2B):c.947T>A (p.Ile316Asn)	57459	GATAD2B	Uncertain significance	rs1674488908	RCV001336501;	N	MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686	1	153789018	153789018	153789018	-
NM_020699.4(GATAD2B):c.918del (p.Pro307fs)	57459	GATAD2B	Pathogenic	rs1064793829	RCV000482271\|RCV000678364;	N	MedGen:CN517202\|MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686	1	153789047	153789047	1:g.153789047_153789047del	ClinGen:CA16616979	C3554448 615074 Mental retardation, autosomal dominant 18;
NM_020699.4(GATAD2B):c.895C>T (p.Gln299Ter)	57459	GATAD2B	Pathogenic	rs1674512996	RCV001262781;	N	MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686	1	153789853	153789853	1:g.153789853G>A	-
NM_020699.4(GATAD2B):c.882C>T (p.Pro294=)	57459	GATAD2B	Conflicting interpretations of pathogenicity	rs150972720	RCV000921698\|RCV003130090;	N	MedGen:CN517202\|MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686	1	153789866	153789866	1:g.153789866G>A	-
NM_020699.4(GATAD2B):c.854T>C (p.Val285Ala)	57459	GATAD2B	Uncertain significance	-1	RCV001971250\|RCV003134310;	N	MedGen:CN517202\|MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686	1	153789894	153789894	153789894	-
NM_020699.4(GATAD2B):c.777_778del (p.Met259fs)	57459	GATAD2B	Pathogenic	-1	RCV001775276;	N	MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686	1	153789970	153789971	153789969	-
NM_020699.4(GATAD2B):c.766C>T (p.Leu256Phe)	57459	GATAD2B	Uncertain significance	rs906441475	RCV001197356;	N	MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686	1	153789982	153789982	1:g.153789982G>A	-
NM_020699.4(GATAD2B):c.729+15G>A	57459	GATAD2B	Benign	-1	RCV001703313\|RCV002077165;	N	MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686\|MedGen:CN517202	1	153790501	153790501	153790501	-
NM_020699.4(GATAD2B):c.709C>T (p.Gln237Ter)	57459	GATAD2B	Pathogenic	rs1553188314	RCV000498282\|RCV001261869;	N	MedGen:CN517202\|MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686	1	153790536	153790536	NC_000001.10:g.153790536G>A	ClinGen:CA342531541,OMIM:614998.0009
NM_020699.4(GATAD2B):c.694C>T (p.Gln232Ter)	57459	GATAD2B	Pathogenic	rs1057518674	RCV000415285;	N	MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686	1	153790551	153790551	1:g.153790551G>A	ClinGen:CA16043642	C3554448 615074 Mental retardation, autosomal dominant 18;
NM_020699.4(GATAD2B):c.667_670del (p.Lys224fs)	57459	GATAD2B	Pathogenic	rs1570929072	RCV000791276;	N	MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686	1	153790575	153790578	1:g.153790575_153790578del	-
NM_020699.4(GATAD2B):c.614del (p.Asn205fs)	57459	GATAD2B	Likely pathogenic	-1	RCV002293385;	N	MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686	1	153790631	153790631	153790630	-
NM_020699.4(GATAD2B):c.598-1G>A	57459	GATAD2B	Likely pathogenic	rs1674549557	RCV001261979;	N	MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686	1	153790648	153790648	1:g.153790648C>T	-
NM_020699.4(GATAD2B):c.597+2_597+3dup	57459	GATAD2B	Uncertain significance	rs1674574746	RCV001197308;	N	MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686	1	153791263	153791264	1:g.153791263_153791264insTA	-
NM_020699.4(GATAD2B):c.597+1G>A	57459	GATAD2B	Likely pathogenic	rs1570929867	RCV000824825\|RCV001266211;	N	MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686\|MeSH:D030342,MedGen:C0950123	1	153791266	153791266	1:g.153791266C>T	-
NM_020699.4(GATAD2B):c.587T>C (p.Val196Ala)	57459	GATAD2B	Uncertain significance	-1	RCV003135332;	N	MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686	1	153791277	153791277	NC_000001.10:g.153791277A>G	-
NM_020699.4(GATAD2B):c.574C>T (p.Gln192Ter)	57459	GATAD2B	Pathogenic	rs1570929904	RCV000986416;	N	MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686	1	153791290	153791290	1:g.153791290G>A	-
NM_020699.4(GATAD2B):c.565_566del (p.Gln190fs)	57459	GATAD2B	Pathogenic	rs886037647	RCV000055645\|RCV001540854;	N	MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686\|MedGen:CN517202	1	153791298	153791299	NC_000001.10:g.153791298CT[1]	ClinGen:CA10575602,OMIM:614998.0003
NM_020699.4(GATAD2B):c.552_555del (p.Lys184fs)	57459	GATAD2B	Pathogenic	rs1131692165	RCV000494723;	N	MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686	1	153791309	153791312	NC_000001.10:g.153791312_153791315del	ClinGen:CA645372350,OMIM:614998.0005	C3554448 615074 Mental retardation, autosomal dominant 18;
NM_020699.4(GATAD2B):c.539T>C (p.Leu180Pro)	57459	GATAD2B	Pathogenic	rs1674576482	RCV001261867;	N	MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686	1	153791325	153791325	1:g.153791325A>G	OMIM:614998.0006
NM_020699.4(GATAD2B):c.535C>T (p.Arg179Ter)	57459	GATAD2B	Pathogenic	rs1553188463	RCV000502062\|RCV000627305\|RCV001260616;	N	MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686\|MedGen:CN517202\|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0	1	153791329	153791329	NC_000001.10:g.153791329G>A	ClinGen:CA342532883
NM_020699.4(GATAD2B):c.409C>T (p.Arg137Cys)	57459	GATAD2B	Uncertain significance	-1	RCV001771683;	N	MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686	1	153792138	153792138	153792138	-
NM_020699.4(GATAD2B):c.387del (p.Asp130fs)	57459	GATAD2B	Likely pathogenic	rs756062872	RCV000986417;	N	MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686	1	153792160	153792160	1:g.153792160_153792160del	-
NM_020699.4(GATAD2B):c.365C>G (p.Ser122Ter)	57459	GATAD2B	Pathogenic	rs1674609315	RCV001260908;	N	MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686	1	153792182	153792182	1:g.153792182G>C	-
NM_020699.4(GATAD2B):c.346C>T (p.Arg116Ter)	57459	GATAD2B	Pathogenic	rs886041621	RCV000383463\|RCV000844949\|RCV001270782\|RCV001261870;	N	MedGen:CN517202\|\|\|MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686	1	153792201	153792201	NC_000001.10:g.153792201G>A	ClinGen:CA10602752,OMIM:614998.0010
NM_020699.4(GATAD2B):c.230A>G (p.Glu77Gly)	57459	GATAD2B	Uncertain significance	rs1674946246	RCV001331126;	N	MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686	1	153800594	153800594	153800594	-
NM_020699.4(GATAD2B):c.185del (p.Glu62fs)	57459	GATAD2B	Pathogenic	rs1570938014	RCV000790477;	N	MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686	1	153800639	153800639	1:g.153800639_153800639del	-
NM_020699.4(GATAD2B):c.117_127del (p.Met40fs)	57459	GATAD2B	Pathogenic	-1	RCV003123571;	N	MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686	1	153800697	153800707	NC_000001.10:g.153800698_153800708del	-
NM_020699.4(GATAD2B):c.91C>T (p.Arg31Ter)	57459	GATAD2B	Likely pathogenic	rs1570938113	RCV001007605;	N	MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686	1	153800733	153800733	1:g.153800733G>A	-
NM_020699.4(GATAD2B):c.76_80dup (p.Leu28fs)	57459	GATAD2B	Pathogenic	rs1131692164	RCV000494729;	N	MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686	1	153800743	153800744	NC_000001.10:g.153800745_153800749dup	ClinGen:CA645372446,OMIM:614998.0004	C3554448 615074 Mental retardation, autosomal dominant 18;
NM_020699.4(GATAD2B):c.71G>A (p.Arg24Gln)	57459	GATAD2B	Uncertain significance	-1	RCV003135331;	N	MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686	1	153800753	153800753	NC_000001.10:g.153800753C>T	-
Single allele	-1	subset of 13 genes: GATAD2B	Likely pathogenic	-1	RCV000677922;	N	MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686	1	153859810	154034971		-	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
GRCh37/hg19 1q21.3(chr1:153701504-154218584)	-1	subset of 15 genes: GATAD2B	Pathogenic	-1	RCV000767778;	N	MONDO:MONDO:0014034,MedGen:C3554448,OMIM:615074, Orphanet:363686	1	153701504	154218584		-

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