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 30 (OMIM:616083)
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:

7651

Name:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 30

Definition:

Alternative IDs:

DO:DOID:0070060

ParentIDs:

MESH:D008607

TreeNumbers:

C10.597.606.360/616083 |C23.888.592.604.646/616083 |F03.625.539/616083

Synonyms:

MRD30

Slim Mappings:

Mental disorder|Nervous system disease|Signs and symptoms

Reference:

MedGen: 616083
MeSH: 616083
OMIM: 616083;
MSeqDR :
Genes: ZMYND11;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001999	Abnormal facial shape	HP:0040282
3	HP:0000718	Aggressive behavior
4	HP:0000750	Delayed speech and language development NAMDC: Delayed language
5	HP:0001263	Global developmental delay NAMDC: Delayed development (evidence of at least one of A through F)
6	HP:0001263	Global developmental delay NAMDC: Mental retardation
7	HP:0000316	Hypertelorism
8	HP:0001256	Intellectual disability, mild
9	HP:0000508	Ptosis NAMDC: Ptosis
10	HP:0000154	Wide mouth

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_001366521.1(ATP2B1):c.2959G>T (p.Glu987Ter)	490	ATP2B1	Likely pathogenic	-1	RCV003330165;	N	MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	12	89996921	89996921		-
NM_006624.7(ZMYND11):c.-20+114C>A	10771	ZMYND11	Uncertain significance	-1	RCV003458292;	N	MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	180840	180840		-
NM_001370100.5(ZMYND11):c.4G>A (p.Ala2Thr)	10771	ZMYND11	Likely pathogenic	-1	RCV003149143;	N	MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	225956	225956		-
NM_001370100.5(ZMYND11):c.22C>T (p.Arg8Ter)	10771	ZMYND11	Pathogenic	1060499626	RCV000445592\|RCV002509385;	N	MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151\|MedGen:CN517202	10	225974	225974	10:g.225974C>T	ClinGen:CA16609358	C4015167 616083 Mental retardation, autosomal dominant 30;
NM_001370100.5(ZMYND11):c.37A>G (p.Lys13Glu)	10771	ZMYND11	Uncertain significance	759490914	RCV001374599;	N	MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	225989	225989	225989	-
NM_001370100.5(ZMYND11):c.64A>G (p.Ile22Val)	10771	ZMYND11	Uncertain significance	-1	RCV003139417;	N	MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	226016	226016	NC_000010.10:g.226016A>G	-
NM_001370100.5(ZMYND11):c.76C>T (p.Arg26Trp)	10771	ZMYND11	Pathogenic	1135401797	RCV000496111;	N	MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	226028	226028	NC_000010.10:g.226028C>T	ClinGen:CA375841367	C4015167 616083 Mental retardation, autosomal dominant 30;
NM_001370100.5(ZMYND11):c.82C>T (p.Gln28Ter)	10771	ZMYND11	Pathogenic	1554767754	RCV000521879\|RCV001374663;	N	MedGen:CN517202\|MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	226034	226034	10:g.226034C>T	ClinGen:CA375841381	CN517202 not provided;
NM_001370100.5(ZMYND11):c.117-534_276+3387dup	10771	ZMYND11	Uncertain significance	-1	RCV002266889;	N	MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	255292	255293	255292	-
NM_001370100.5(ZMYND11):c.128G>C (p.Arg43Pro)	10771	ZMYND11	Uncertain significance	-1	RCV003153003;	N	MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	255840	255840		-
NM_001370100.5(ZMYND11):c.142C>T (p.His48Tyr)	10771	ZMYND11	Uncertain significance	-1	RCV003139414;	N	MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	255854	255854	NC_000010.10:g.255854C>T	-
NM_001370100.5(ZMYND11):c.185A>G (p.Asp62Gly)	10771	ZMYND11	not provided	-1	RCV003233289;	N	MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	255897	255897		-
NM_001370100.5(ZMYND11):c.206dup (p.Thr70fs)	10771	ZMYND11	Pathogenic	606231267	RCV000144896;	N	MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	255917	255918	10:g.255917_255918insT	ClinGen:CA170954,OMIM:608668.0002	C4015167 616083 Mental retardation, autosomal dominant 30;
NM_001370100.5(ZMYND11):c.349C>G (p.Leu117Val)	10771	ZMYND11	Uncertain significance	-1	RCV002294551;	N	MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	267207	267207	267207	-
NM_001370100.5(ZMYND11):c.383del (p.Ser128fs)	10771	ZMYND11	Pathogenic	1135401771	RCV000496105;	N	MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	267241	267241	10:g.267241_267241del	ClinGen:CA645372877	C4015167 616083 Mental retardation, autosomal dominant 30;
NM_001370100.5(ZMYND11):c.439-7T>A	10771	ZMYND11	Uncertain significance	1950072373	RCV001839215;	N	MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	282771	282771	282771	-
NM_001370100.5(ZMYND11):c.440G>C (p.Ser147Thr)	10771	ZMYND11	Uncertain significance	1178826446	RCV001334582;	N	MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	282779	282779	282779	-
NM_001370100.5(ZMYND11):c.516+42C>T	10771	ZMYND11	Benign	4600135	RCV001544303;	N	MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	282897	282897	282897	-
NM_001370100.5(ZMYND11):c.561del (p.Met187fs)	10771	ZMYND11	Pathogenic	672601341	RCV000144899;	N	MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	283569	283569	10:g.283569_283569del	ClinGen:CA170957,OMIM:608668.0005	C4015167 616083 Mental retardation, autosomal dominant 30;
NM_001370100.5(ZMYND11):c.584C>T (p.Ala195Val)	10771	ZMYND11	Uncertain significance	2131695547	RCV001801285;	N	MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	283592	283592	283592	-
NM_001370100.5(ZMYND11):c.630C>G (p.Tyr210Ter)	10771	ZMYND11	Pathogenic	-1	RCV002282711;	N	MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	285398	285398	285398	OMIM:608668.0006
NM_001370100.5(ZMYND11):c.697+15_697+16insGTTT	10771	ZMYND11	Benign	1554788985	RCV001544304\|RCV002071972;	N	MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151\|MedGen:C3661900	10	285479	285480	285479	-
NM_001370100.5(ZMYND11):c.697+15_697+16insGTTTT	10771	ZMYND11	Benign/Likely benign	1554788985	RCV002091508\|RCV002500136;	N	MedGen:C3661900\|MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	285479	285480	285479	-
NM_001370100.5(ZMYND11):c.709C>T (p.Gln237Ter)	10771	ZMYND11	Pathogenic	2131744948	RCV001374660;	N	MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	286007	286007	286007	-
NM_001370100.5(ZMYND11):c.737_738del (p.Lys246fs)	10771	ZMYND11	Pathogenic/Likely pathogenic	1554789246	RCV000598997\|RCV001374634;	N	MedGen:CN517202\|MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	286034	286035	10:g.286034_286035del	ClinGen:CA658797399	CN517202 not provided;
NM_001370100.5(ZMYND11):c.744_745del (p.Cys249fs)	10771	ZMYND11	Pathogenic	772620276	RCV001578087\|RCV001810098\|RCV002568506;	N	MedGen:C3661900\|MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151\|MeSH:D030342,MedGen:C0950123	10	286042	286043	286041	-
NM_001370100.5(ZMYND11):c.753+5T>C	10771	ZMYND11	Uncertain significance	-1	RCV002290247;	N	MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	286056	286056	286056	-
NM_001370100.5(ZMYND11):c.812A>G (p.Asn271Ser)	10771	ZMYND11	Uncertain significance	-1	RCV003139416;	N	MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	286891	286891	NC_000010.10:g.286891A>G	-
NM_001370100.5(ZMYND11):c.841C>T (p.His281Tyr)	10771	ZMYND11	Uncertain significance	-1	RCV002290248;	N	MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	287970	287970	287970	-
NM_001370100.5(ZMYND11):c.859A>T (p.Lys287Ter)	10771	ZMYND11	Likely pathogenic	2131809743	RCV002077371;	N	MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	287988	287988	287988	-
NM_001370100.5(ZMYND11):c.876_882del (p.Phe293fs)	10771	ZMYND11	Pathogenic	-1	RCV003322937\|RCV003326687;	N	MedGen:CN517202\|MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	287997	288003		-
NM_001370100.5(ZMYND11):c.926G>A (p.Arg309His)	10771	ZMYND11	Likely pathogenic	2131810674	RCV001374635\|RCV001664856;	N	MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151\|MedGen:C3661900	10	288055	288055	288055	-
NM_001370100.5(ZMYND11):c.929T>G (p.Phe310Cys)	10771	ZMYND11	Uncertain significance	1554790212	RCV000624782\|RCV001330267;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	288058	288058	10:g.288058T>G	ClinGen:CA375817109	C0950123 Inborn genetic diseases;
NM_001370100.5(ZMYND11):c.976C>T (p.Gln326Ter)	10771	ZMYND11	Pathogenic	672601340	RCV000144897;	N	MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	292731	292731	10:g.292731C>T	ClinGen:CA170955,OMIM:608668.0003	C4015167 616083 Mental retardation, autosomal dominant 30;
NM_001370100.5(ZMYND11):c.1000C>T (p.Arg334Trp)	10771	ZMYND11	Uncertain significance	-1	RCV003139415;	N	MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	292755	292755	NC_000010.10:g.292755C>T	-
NM_001370100.5(ZMYND11):c.1028G>A (p.Trp343Ter)	10771	ZMYND11	Likely pathogenic	2131925813	RCV001809166;	N	MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	292783	292783	292783	-
NM_001370100.5(ZMYND11):c.1072C>T (p.Arg358Ter)	10771	ZMYND11	Pathogenic	1554792556	RCV000624218\|RCV001312146\|RCV002285019;	N	MeSH:D030342,MedGen:C0950123\|MedGen:C3661900\|MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	292827	292827	10:g.292827C>T	ClinGen:CA375820035	C0950123 Inborn genetic diseases;
NM_001370100.5(ZMYND11):c.1089G>A (p.Trp363Ter)	10771	ZMYND11	Pathogenic	-1	RCV002282712;	N	MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	292844	292844	292844	OMIM:608668.0007
NM_001370100.5(ZMYND11):c.1129del (p.Ser377fs)	10771	ZMYND11	Pathogenic	2131927984	RCV001374632;	N	MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	292884	292884	292883	-
NM_001370100.5(ZMYND11):c.1158+14C>A	10771	ZMYND11	Benign	2303990	RCV001544307\|RCV001713124;	N	MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151\|MedGen:C3661900	10	292927	292927	292927	-
NM_001370100.5(ZMYND11):c.1159-2A>G	10771	ZMYND11	Likely pathogenic	2131938879	RCV001374629;	N	MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	293336	293336	293336	-
NM_001370100.5(ZMYND11):c.1199G>A (p.Arg400His)	10771	ZMYND11	Uncertain significance	-1	RCV003139413;	N	MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	293378	293378	NC_000010.10:g.293378G>A	-
NM_001370100.5(ZMYND11):c.1246_1247del (p.Glu416fs)	10771	ZMYND11	Pathogenic	606231268	RCV000144898;	N	MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	294293	294294	10:g.294293_294294del	ClinGen:CA170956,OMIM:608668.0004	C4015167 616083 Mental retardation, autosomal dominant 30;
NM_001370100.5(ZMYND11):c.1255A>C (p.Ser419Arg)	10771	ZMYND11	Likely pathogenic	1952619236	RCV001330265;	N	MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	294303	294303	294303	-
NM_001370100.5(ZMYND11):c.1262G>A (p.Ser421Asn)	10771	ZMYND11	Likely pathogenic	869320713	RCV000210880\|RCV000493926\|RCV000509303;	N	MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151\|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	10	294310	294310	10:g.294310G>A	ClinGen:CA358891	C1843367 Intellectual disability;
NM_001370100.5(ZMYND11):c.1273C>T (p.Pro425Ser)	10771	ZMYND11	Uncertain significance	1204710018	RCV001752409\|RCV003136138;	N	MedGen:C3661900\|MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	294321	294321	294321	-
NM_001370100.5(ZMYND11):c.1294G>A (p.Glu432Lys)	10771	ZMYND11	Uncertain significance	1057518819	RCV000415278\|RCV001198265;	N	6 conditions\|MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	294342	294342	10:g.294342G>A	ClinGen:CA16043447	C1854882 Absent speech;
NM_001370100.5(ZMYND11):c.1317_1320del (p.Thr440fs)	10771	ZMYND11	Pathogenic	1388355040	RCV001091237\|RCV003147590;	N	MedGen:C3661900\|MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	294363	294366	10:g.294363_294366del	-
NM_001370100.5(ZMYND11):c.1342_1344del (p.Pro448del)	10771	ZMYND11	Benign	1250648883	RCV001198721;	N	MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	294388	294390	10:g.294388_294390del	-
NM_001370100.5(ZMYND11):c.1368G>A (p.Gln456=)	10771	ZMYND11	Uncertain significance	1952640750	RCV001330266;	N	MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	294416	294416	294416	-
NM_001370100.5(ZMYND11):c.1370C>T (p.Thr457Ile)	10771	ZMYND11	Uncertain significance	-1	RCV003139411;	N	MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	294418	294418	NC_000010.10:g.294418C>T	-
NM_001370100.5(ZMYND11):c.1390_1391insCC (p.Gln464fs)	10771	ZMYND11	Likely pathogenic	-1	RCV003322716;	N	MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	294437	294438		-
NM_001370100.5(ZMYND11):c.1456C>T (p.His486Tyr)	10771	ZMYND11	Uncertain significance	964671911	RCV001249829\|RCV003226453;	N	MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151\|MedGen:CN169374	10	294504	294504	10:g.294504C>T	-
NM_001370100.5(ZMYND11):c.1573dup (p.Asp525fs)	10771	ZMYND11	Pathogenic	-1	RCV002282713;	N	MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	294913	294914	294913	OMIM:608668.0008
NM_001370100.5(ZMYND11):c.1581dup (p.Cys528fs)	10771	ZMYND11	Likely pathogenic	2131978117	RCV001374626;	N	MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	294919	294920	294919	-
NM_001370100.5(ZMYND11):c.1611A>G (p.Glu537=)	10771	ZMYND11	Benign	1017361	RCV001544308\|RCV002071973;	N	MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151\|MedGen:C3661900	10	294953	294953	294953	-
NM_001370100.5(ZMYND11):c.1678A>C (p.Lys560Gln)	10771	ZMYND11	Uncertain significance	-1	RCV003447668;	N	MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	295020	295020		-
NM_001370100.5(ZMYND11):c.1685G>C (p.Trp562Ser)	10771	ZMYND11	Likely pathogenic	2131979217	RCV001374633;	N	MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	295027	295027	295027	-
NM_001370100.5(ZMYND11):c.1687-1G>A	10771	ZMYND11	Pathogenic	2132045372	RCV001374627;	N	MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	298287	298287	298287	-
NM_001370100.5(ZMYND11):c.1724G>A (p.Cys575Tyr)	10771	ZMYND11	Likely pathogenic	2132045760	RCV001374631;	N	MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	298325	298325	298325	-
NM_001370100.5(ZMYND11):c.1756CAG[1] (p.Gln587del)	10771	ZMYND11	Pathogenic	606231266	RCV000144895;	N	MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	298357	298359	10:g.298357_298359del	ClinGen:CA170952,OMIM:608668.0001	C4015167 616083 Mental retardation, autosomal dominant 30;
NM_001370100.5(ZMYND11):c.1756C>T (p.Gln586Ter)	10771	ZMYND11	Pathogenic	-1	RCV002282714;	N	MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	298357	298357	298357	OMIM:608668.0009
NM_001370100.5(ZMYND11):c.1769G>A (p.Trp590Ter)	10771	ZMYND11	Pathogenic	2132046225	RCV001815702\|RCV002226788;	N	MedGen:C3661900\|MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	298370	298370	298370	-
NM_001370100.5(ZMYND11):c.1781A>G (p.His594Arg)	10771	ZMYND11	Uncertain significance	-1	RCV003152881;	N	MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	298382	298382		-
NM_001370100.5(ZMYND11):c.1793G>C (p.Cys598Ser)	10771	ZMYND11	Likely pathogenic	1953701770	RCV001253173;	N	MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151	10	298394	298394	10:g.298394G>C	-
NM_001370100.5(ZMYND11):c.1798C>T (p.Arg600Trp)	10771	ZMYND11	Pathogenic/Likely pathogenic	797044854	RCV000190655\|RCV000358614\|RCV001004105\|RCV001255412\|RCV001844080\|RCV003407691;	N	MeSH:D030342,MedGen:C0950123\|MedGen:C3661900\|MONDO:MONDO:0014486,MedGen:C4015167,OMIM:616083, Orphanet:436151\|Human Phenotype Ontology:HP:0000754,Human Phenotype Ontology:HP:0001255,Human Phenotype Ontology:HP:0001263,Human Phenotype Ontology:HP:0001277,	10	298399	298399	10:g.298399C>T	ClinGen:CA204600	C0950123 Inborn genetic diseases;

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