Gene Summary

SET domain containing 2
KMT3A,  4921524K10Rik

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
short tibia Setd2tm1b(NCOM)Mfgc HOM Early adult 7.21×10-09
decreased exploration in new environment Setd2tm1b(NCOM)Mfgc HOM Early adult 6.95×10-05
prolonged QRS complex duration Setd2tm1b(NCOM)Mfgc HOM Early adult 1.96×10-05
increased grip strength Setd2tm1b(NCOM)Mfgc HOM Early adult 7.11×10-05
increased heart weight Setd2tm1b(NCOM)Mfgc HOM   Early adult 3.07×10-05
decreased prepulse inhibition Setd2tm1b(NCOM)Mfgc HOM   Early adult 1.84×10-06

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Gross Pathology and Tissue Collection


8 Images

Eye Morphology

Images Ophthalmoscopy

21 Images



7 Images


XRay Images Skull Dorso Ventral Orientation

10 Images


XRay Images Whole Body Dorso Ventral

10 Images


XRay Images Skull Lateral Orientation

10 Images


XRay Images Whole Body Lateral Orientation

10 Images


Panel A FCS file(s)

2 Images


Panel B FCS file(s)

2 Images

Human diseases caused by Setd2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Setd2 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Setd2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Syndactyly Type 4
Toe syndactyly, 6 metacarpals, Foot polydactyly, Triphalangeal thumb, Hand polydactyly, 1-5 finge... ORPHA:93405
Acrocapitofemoral Dysplasia
Small finger, Genu varum, Delayed ossification of carpal bones, Cone-shaped metacarpal epiphyses,... OMIM:607778
Acromesomelic Dysplasia 2A
Acromesomelia, Pes valgus, Valgus hand deformity, Hypoplasia of the ulna, Fibular hypoplasia, Sho... OMIM:200700
Acromesomelic Dysplasia 2C
Acromesomelia, Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Fibular... OMIM:201250
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Micromelia, Limb undergrowth, Short tibia, Short long... OMIM:118651
Osebold-Remondini Syndrome
Broad toe, Carpal synostosis, Hypoplasia of the ulna, Bipartite calcaneus, Fibular hypoplasia, Ty... OMIM:112910
Acromesomelic Dysplasia, Grebe Type
Brachydactyly, Bowing of the long bones, Synostosis of carpal bones, Fibular hypoplasia, Aplasia/... ORPHA:2098
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Fibular hypoplasia, Radial club hand, Sandal gap, Short 5th finger, Hypop... ORPHA:1972
Progressive Familial Heart Block, Type Ia
Complete heart block with broad QRS complexes, Left anterior fascicular block, Sudden cardiac dea... OMIM:113900
Fibular Hemimelia
Fibular hypoplasia, Limited knee flexion/extension, Short tibia, Short toe, Increased laxity of a... ORPHA:93323
Leri-Weill Dyschondrosteosis
Dorsal subluxation of ulna, Hypoplasia of the ulna, Coxa valga, Abnormal femoral neck morphology,... OMIM:127300
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Histiocytoid cardiomyopathy, Wolff-Parkinson-White syndr... ORPHA:45453
Langer Mesomelic Dysplasia
Rudimentary fibula, Hypoplasia of the ulna, Short femoral neck, Hypoplasia of the radius, Microgn... OMIM:249700
Léri-Weill Dyschondrosteosis
Abnormal hip bone morphology, Genu varum, Abnormality of the ulna, Clinodactyly of the 5th finger... ORPHA:240
Aplasia of the phalanges of the hand, Absent radius, Peromelia, Aplasia of the tarsal bones, Abse... OMIM:200500
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Hand oligodactyly, Tibial bowing, Foot oligodactyly, Fibular aplasia, Short tibia, Syndactyly OMIM:246570
Congenital Heart Defects, Multiple Types, 3
Tetralogy of Fallot, Atrial septal defect, Right bundle branch block, Abnormal heart morphology, ... OMIM:614954
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology ORPHA:1479
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the ulna, Fibular hypoplasia, Hypoplasia of the radius, Lytic defects of humeral di... OMIM:601376
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Pseudoarthrosis, Short tibia OMIM:156230
Brugada Syndrome
ST segment elevation, Ventricular fibrillation, Cardiac arrest, Paroxysmal ventricular tachycardi... ORPHA:130
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Triphalangeal thumb, Preaxial polydactyly, Short tibia, Fibular duplication OMIM:188740
Cardiomyopathy, Dilated, 1E
Atrial standstill, Dilated cardiomyopathy, Reduced systolic function, Atrial flutter, Premature v... OMIM:601154
Atrial Standstill
Atrial standstill, Left ventricular noncompaction, Ventricular tachycardia, Arrhythmia, Congestiv... ORPHA:1344
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Abnormal foot morphology, Fibular aplasia, Talipes equinovalgus, Short ti... OMIM:605274
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Hypoplasia of the ulna, Fibular hypoplasia, Short tibia, Short femur, Aplasia/Hypop... OMIM:612447
Loeffler Endocarditis
Left ventricular diastolic dysfunction, Myocardial fibrosis, Abnormal heart valve morphology, Aor... ORPHA:75566
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Cognitive impairment, Right bundle... ORPHA:206559
Familial Progressive Cardiac Conduction Defect
Arrhythmia, Congestive heart failure, Bundle branch block, Syncope, Heart block ORPHA:871
Cantu Syndrome
Congenital hypertrophy of left ventricle, Short neck, Patent ductus arteriosus, Lymphedema, Bicus... OMIM:239850
Gollop-Wolfgang Complex
Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Cardiomyopathy, Familial Hypertrophic, 10
Ventricular fibrillation, Ventricular tachycardia, T-wave inversion, Hypertrophic cardiomyopathy,... OMIM:608758
Cardiomyopathy, Familial Hypertrophic, 13
Ventricular fibrillation, Biventricular hypertrophy, Left anterior fascicular block, Hypertrophic... OMIM:613243
Lambert Syndrome
Branchial anomaly, Intrauterine growth retardation, Ventricular septal defect ORPHA:1296
Orofaciodigital Syndrome Type 10
Hypoplasia of proximal radius, Preaxial polydactyly, Mesomelic leg shortening, Oligodactyly, Micr... ORPHA:2756
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular fibrillation, Cardiac arrest, Hypertrophic cardiomyopathy, Hepatomegaly, Right bundle... OMIM:115197
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, 3-4 finger... OMIM:619217
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... OMIM:616117
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Right ventricular dilatation, Reduced ejection fraction, A... ORPHA:217607
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Right ventricular dilatation, Atrial flutter, Systolic heart murmur... ORPHA:99105
Pericardial effusion, Ascites OMIM:256150
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pleural effusion, Polyhydramnios, Generalized edema, Stillbirth, Peric... OMIM:618773
Tibial Hemimelia
Radial club hand, Mesomelic leg shortening, Short tibia, Increased laxity of ankles, Hip dysplasi... ORPHA:93322
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Cardiomyopathy, Familial Hypertrophic, 6
Ventricular preexcitation, Sinus bradycardia, Wolff-Parkinson-White syndrome, Hypertrophic cardio... OMIM:600858
Cardiomyopathy, Familial Hypertrophic, 16
Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypertrophy, Atrial fibrilla... OMIM:613838
Brugada Syndrome 1
Ventricular fibrillation, Cardiac arrest, Atrial flutter, Sudden cardiac death, Right bundle bran... OMIM:601144
Laurin-Sandrow Syndrome
Absent radius, Absent tibia, Triphalangeal thumb, Hand polydactyly, Broad foot, Fibular duplicati... OMIM:135750
Progressive Familial Heart Block, Type Ib
Shortened PR interval, Arrhythmia, Left anterior fascicular block, Right bundle branch block, Syn... OMIM:604559
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Dyschondrosteosis And Nephritis
Ulnar bowing, Radial bowing, Short tibia, Short forearm OMIM:127350
Hydrops Fetalis
Nonimmune hydrops fetalis, Pleural effusion, Abnormal heart morphology, Polyhydramnios, Lymphedem... ORPHA:1041
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Acrofacial Dysostosis Syndrome Of Rodriguez
Clinodactyly, Fibular hypoplasia, 11 pairs of ribs, Triphalangeal thumb, Oligodactyly, Micrognath... OMIM:201170
Stuve-Wiedemann Syndrome 1
Talipes, Micrognathia, Short tibia, Bowing of the long bones, Metaphyseal rarefaction, Absent pat... OMIM:601559
Congenital Disorder Of Glycosylation, Type Il
Short neck, Microcephaly, Ascites, Edema, Pericardial effusion, Abnormal cardiac septum morphology OMIM:608776
Primary Effusion Lymphoma
Pleural effusion, Pericardial effusion ORPHA:48686
Lymphatic Malformation 7
Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Pericardial effusion, Edema, Facial ... OMIM:617300
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Right ventricular dilatation, Ventricular tachycardia, Premature ventricular contraction, Left bu... OMIM:618920
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Clubbing, Patent foramen ovale, Systolic heart murmur, Congestive heart... ORPHA:439
Brugada Syndrome 2
Prolonged PR interval, Ventricular fibrillation, First degree atrioventricular block, Sudden card... OMIM:611777
Tibial Aplasia-Ectrodactyly Syndrome
Brachydactyly, Finger syndactyly, Fibular hypoplasia, Split hand, Abnormality of fibula morpholog... ORPHA:3329
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, Cone-shaped epiphy... ORPHA:1505
Ventricular Tachycardia, Familial
Right bundle branch block, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Frontal Encephalocele
Cerebral calcification, Aplasia/Hypoplasia of the corpus callosum, Spina bifida, Hydrocephalus, E... ORPHA:1931
Congenital Disorder Of Glycosylation, Type Ig
Patent foramen ovale, Short ribs, Sandal gap, Rhizomelia, Hypoplasia of the radius, Short tibia, ... OMIM:607143
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Clinodactyly, Aplasia/Hypoplasia of the 5th finger, Hypoplastic iliac wing, Aplasia/Hypoplasia of... OMIM:228930
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular fibrillation, Ventricular tachycardia, Arrhythmia, T-wave inver... ORPHA:263297
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Sinus tachycardia, Left bundle branch block, Pedal edema, ... ORPHA:563
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Atrial septal defect, Mild postnatal growth retardation, Pleural effus... OMIM:235510
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Pleural effusion, Growth delay, Pulmonic stenosis, Ascites, Chylopericardium ORPHA:2414
Orofaciodigital Syndrome Iv
Brachydactyly, Clinodactyly, Toe syndactyly, Foot polydactyly, Hand polydactyly, Micrognathia, Sh... OMIM:258860
Naxos Disease
Dilated cardiomyopathy, Palmoplantar keratoderma, Paroxysmal ventricular tachycardia, Premature v... OMIM:601214
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Absent tibia, Short hallux, Aplasia/Hypoplasia of the ulna, Split hand... OMIM:119100
Atrial Septal Defect, Ostium Primum Type
Right atrial enlargement, Right bundle branch block, Atrial fibrillation, Third heart sound, Mitr... ORPHA:99106
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Flattened epiphysis, Knee osteoarthritis, Tibial bowing, Fl... ORPHA:93356
Acromesomelic Dysplasia 2B
Brachydactyly, Deformed tarsal bones, Deviation of finger, Fibular hypoplasia, Rhizomelia, Short ... OMIM:228900
Complete Atrioventricular Septal Defect
Left-to-right shunt, Right bundle branch block, Pulmonary venous hypertension, Third heart sound,... ORPHA:1329
Multiple Epiphyseal Dysplasia With Robin Phenotype
Brachydactyly, Flat capital femoral epiphysis, Irregular epiphyses, Flattened epiphysis, Prominen... OMIM:601560
Aplasia/hypoplasia involving bones of the extremities, Tetralogy of Fallot, Coxa valga, Abnormali... ORPHA:356961
Craniofaciofrontodigital Syndrome
Abnormal heart valve morphology, Patent ductus arteriosus, Atrial septal defect, Hyperintensity o... ORPHA:363705
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Alkuraya-Kucinskas Syndrome
Webbed neck, Cystic hygroma, Aplasia/Hypoplasia of the corpus callosum, Lissencephaly, Hydrocepha... OMIM:617822
Eiken Syndrome
Metaphyseal irregularity, Abnormal fingertip morphology, Short palm, Delayed epiphyseal ossificat... ORPHA:79106
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Abnormal ST segment, Right bundle branch block, Left bundle branch bloc... ORPHA:75565
Blount Disease
Abnormality of the proximal tibial epiphysis, Tibial bowing, Abnormality of the knee, Abnormality... ORPHA:2768
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Anencephaly, Spina bifida, Ventricular septal defect ORPHA:2476
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Synostosis of carpal bones, Aplasia/Hypoplasia of the thumb, Abnormality of fibula morphology, Ap... ORPHA:988
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Foot monodactyly, Bifid femur, Aplasia of the ulna, Split hand, Hand monodactyly OMIM:228250
Atrial Septal Defect, Ostium Secundum Type
Right atrial enlargement, Abnormal mitral valve morphology, Left-to-right shunt, Bundle branch bl... ORPHA:99103
Aicardi-Goutieres Syndrome 9
Cerebral calcification, Cerebral atrophy, Left ventricular hypertrophy, Intrauterine growth retar... OMIM:619487
Microcephaly-Micromelia Syndrome
Absent radius, Oligodactyly, Micrognathia, Micromelia, Short tibia, Humeroradial synostosis, Fore... OMIM:251230
Brugada Syndrome 5
ST segment elevation, Ventricular fibrillation, Bundle branch block OMIM:612838
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Flared femoral metaphysis, Broad femoral neck, Deformed humerus,... ORPHA:85188
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Bundle branch block, Ventricular tachycardia OMIM:615616
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Ebstein Anomaly
Atrial standstill, Ventricular preexcitation, Atrial septal defect, Sudden cardiac death, Right b... OMIM:224700
Mesomelic Dysplasia, Savarirayan Type
Flared radial metaphysis, Narrow iliac wing, Broad tibial metaphyses, Hypoplasia of proximal radi... ORPHA:85170
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Arrhythmia, Congestive heart failure, Atrial septal defect, Impe... ORPHA:1880
Laurin-Sandrow Syndrome
Toe syndactyly, Talipes, Finger syndactyly, Absent radius, Absent tibia, Mirror image polydactyly... ORPHA:2378
X-Linked Mandibulofacial Dysostosis
Webbed neck, Abnormal mitral valve morphology, Pulmonic stenosis, Microcephaly, Short stature, Br... ORPHA:1131
Microphthalmia With Limb Anomalies
Abnormal thumb morphology, Fibular hypoplasia, Sandal gap, Clinodactyly of the 5th finger, Microg... ORPHA:1106
Multiple Epiphyseal Dysplasia, Lowry Type
Brachydactyly, Flattened epiphysis, Fibular hypoplasia, Dislocated radial head, Rhizomelia, Micro... ORPHA:166016
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of the ulna, Tibial bowing, A... ORPHA:3344
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Total anomalous pulmonary venous return, Fibular hypoplasia, Mesomelic leg shortening, Micrognath... OMIM:609945
Pericardial Effusion, Chronic
Constrictive pericarditis, Pericardial effusion OMIM:260900
Attrv122I Amyloidosis
Reduced ejection fraction, Arrhythmia, Congestive heart failure, Angina pectoris, Increased circu... ORPHA:85451
Orofaciodigital Syndrome Ix
Toe syndactyly, Camptodactyly, Hand polydactyly, Short tibia OMIM:258865
Coronary Arterial Fistula
Pedal edema, Cardiomegaly, Patent foramen ovale, Abnormal left ventricular function, Congestive h... ORPHA:2041
Congenital Enterovirus Infection
Hydrops fetalis, Myocarditis, Pleural effusion, Polyhydramnios, Cardiomyopathy, Fetal ascites, Pe... ORPHA:292
Atelosteogenesis Type Iii
Vertebral hypoplasia, Absent humerus, Absent radius, Epiphyseal stippling of the humerus, Microgn... ORPHA:56305
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Robin Sequence With Cleft Mandible And Limb Anomalies
Fibular hypoplasia, Short metacarpal, Clinodactyly of the 5th finger, Tibial deviation of toes, S... OMIM:268305
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Right bundle branch block OMIM:613158
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Cognitive impairment, Right bundle branch block OMIM:616479
Hypocomplementemic Urticarial Vasculitis
Abnormal heart valve morphology, Angioedema, Pleural effusion, Ascites, Pericardial effusion ORPHA:36412
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida, Mitral valve prolapse OMIM:211960
Acromesomelic Dysplasia 3
Brachydactyly, Carpal synostosis, Hypoplasia of the ulna, Widened proximal tibial metaphyses, Apl... OMIM:609441
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Abnormal myocardium morphology, Dilated cardiomyopathy, Atrial flutter, Abnormal left ventricular... ORPHA:300751
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Brachydactyly, Enlarged kidney, Hypoplasia of the ulna, Short long bone, Fibular hypoplasia, Shor... OMIM:613091
Branchiogenic-Deafness Syndrome
Branchial cyst, Short stature, Branchial fistula OMIM:609166
Primary Intestinal Lymphangiectasia
Pleural effusion, Growth delay, Ascites, Edema, Generalized edema, Pericardial effusion ORPHA:90362
Metaphyseal Acroscyphodysplasia
Brachydactyly, Genu varum, Cone-shaped metacarpal epiphyses, Coxa valga, Short palm, Cone-shaped ... OMIM:250215
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Cardiomegaly, Tricuspid regurgitation, Prolonged QT interval OMIM:618052
Ulnar/Fibular Ray Defect And Brachydactyly
Bilateral talipes equinovarus, Toe syndactyly, Brachydactyly, Unilateral ulnar hypoplasia, Fibula... OMIM:608571
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Intrauterine growth retard... ORPHA:555874
Atrial Septal Defect, Coronary Sinus Type
Right atrial enlargement, Right ventricular dilatation, Unroofed coronary sinus, Systolic heart m... ORPHA:99104
Danon Disease
Dilated cardiomyopathy, Cognitive impairment, Arrhythmia, Wolff-Parkinson-White syndrome, Hypertr... OMIM:300257
Pulmonary Non-Tuberculous Mycobacterial Infection
Pleural effusion, Pericardial effusion ORPHA:411703
Isolated Klippel-Feil Syndrome
Webbed neck, Short neck, Spina bifida, Ventricular septal defect, Low posterior hairline, Congeni... ORPHA:2345
Omodysplasia 1
Fibular hypoplasia, Atrial septal defect, Rhizomelia, Increased fibular diameter, Limited knee fl... OMIM:258315
Drug-Induced Lupus Erythematosus
Pericardial effusion, Pericarditis ORPHA:231111
Nevus Comedonicus Syndrome
Spina bifida occulta, Microcephaly, Spina bifida ORPHA:64754
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Enlargement of the ankles, Distal lower limb muscle weakness, Limitation of movement at ankles, P... ORPHA:437572
Abnormality of epiphysis morphology, Absent radius, Aplasia of the ulna, Fibular aplasia, Abnorma... ORPHA:931
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Synostosis of carpal bones, Abnormality of the ulna, Hypoplasia of the ulna, Fibular hypoplasia, ... ORPHA:2634
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Tetralogy of Fallot, Coxa valga, Phocomelia, Absent radius, Finger syndactyly, Clinod... ORPHA:3320
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Shoulder dislocation, Phocomelia, Absent radius, Fibular hypoplasia, Aplasia/Hypoplas... OMIM:171480
Femoral-Facial Syndrome
Abnormality of pelvic girdle bone morphology, Preaxial foot polydactyly, Abnormality of fibula mo... ORPHA:1988
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Talipes, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, ... OMIM:227270
Acute Interstitial Pneumonia
Pleural effusion, Peripheral edema, Pericardial effusion ORPHA:79126
Pediatric Systemic Lupus Erythematosus
Edema, Pleural effusion, Pericardial effusion, Ascites ORPHA:93552
Sick Sinus Syndrome 4
Abnormal QT interval, Sinus bradycardia, Paroxysmal atrial fibrillation, Chronotropic incompetenc... OMIM:619464
Gaucher Disease Type 1
Abnormal myocardium morphology, Growth delay, Pedal edema, Ascites, Delayed puberty, Pericardial ... ORPHA:77259
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Brachydactyly, Disproportionate shortening of the tibia, Atrial septal defect, Short ribs, Postax... OMIM:263520
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Microcephaly, Severe postnatal growth retardation ORPHA:435938
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Pericard... OMIM:618775
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Endocardial fibroelastosis, Nonimmune hydrops fetalis, Restrictive card... OMIM:619313
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Aortic regurgitation, Systolic heart murmur, Congestive heart fai... ORPHA:3092
Classical-Like Ehlers-Danlos Syndrome Type 2
Webbed neck, Umbilical hernia, Mitral valve prolapse, Pericardial effusion ORPHA:536532
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Complete atrioventricular canal defect, Tetralogy of Fallot, Hypoplastic pubic bone, Short long b... OMIM:617925
Timothy Syndrome
Tetralogy of Fallot, Patent foramen ovale, Cutaneous syndactyly, Prolonged QT interval, Ventricul... OMIM:601005
Poems Syndrome
Pleural effusion, Increased circulating prolactin concentration, Ascites, Edema, Pericardial effu... ORPHA:2905
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Hypoplasia of the corpus callosum, Intrauterine growth retardation, Cystic hygroma, Atrial septal... ORPHA:453499
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Congestive heart failure, Atrial septal defect, Biventricula... ORPHA:860
Cerebral atrophy, Right ventricular dilatation, Short neck, Progressive microcephaly, Rhizomelia,... ORPHA:79328
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormal distal phalanx morphology of finger, Metaphyseal spurs, Micrognathia, Hypoplastic iliac ... ORPHA:96334
Schisis Association
Microcephaly, Anencephaly, Spina bifida, Encephalocele ORPHA:63862
Pulmonary Hypertension, Primary, 4
Atrial flutter, First degree atrioventricular block, Increased pulmonary vascular resistance, Rig... OMIM:615344
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced ejection fraction, Abnormal EKG, Right bundle branch block, Limited knee flexion/extensio... ORPHA:268
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bowing of the long bones, Genu varum, Bulging epiphyses, Metaphyseal irregularity, Tibial bowing,... OMIM:600785
Juvenile Idiopathic Arthritis
Joint swelling, Pericardial effusion ORPHA:92
Aapoaiv Amyloidosis
Sinus bradycardia, Atrial flutter, Cardiac amyloidosis, Hypertrophic cardiomyopathy, Supravalvula... ORPHA:439232
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad first metatarsal, Y-shaped metacarpals, Cone-shaped epiphyses of the pha... ORPHA:2751
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Arrhythmia, Atrioventricular block ORPHA:85447
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Bilateral talipes equinovarus, Patellar hypoplasia, Absent tibia, Talipes equinovarus, Mirror ima... OMIM:119800
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Flattened epiphysis, Flared iliac wing, Rhizomelia, Tibial bowing, Metaphyseal cuppin... OMIM:602111
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Aymé-Gripp Syndrome
Hydrocephalus, Hypoplasia of the corpus callosum, Patent ductus arteriosus, Short stature, Cerebr... ORPHA:1272
Aortic Arch Interruption
Right bundle branch block, Double outlet right ventricle, Single ventricle, Pedal edema, Ventricu... ORPHA:2299
Congenital Disorder Of Glycosylation, Type Ia
Microcephaly, Nonimmune hydrops fetalis, Cardiomyopathy, Pericardial effusion OMIM:212065
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Fibular aplasia, Split ... OMIM:113310
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Achilles tendon contracture, Distal lower limb muscle weakness, Right bundle branch block, Calf m... ORPHA:254361
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Abnormal aortic valve cusp morphology, Third degree atrioventricular block, Dextrocar... ORPHA:216694
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Lymphoproliferative Syndrome 1
Pleural effusion, Pericardial effusion OMIM:613011
Cirrhotic Cardiomyopathy
Right atrial enlargement, Increased circulating troponin I concentration, Left ventricular diasto... ORPHA:57777
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Abnormality of dental eruption, Microcephaly, Short stature, Spi... ORPHA:1327
Tibia, Absence Of, With Congenital Deafness
Absent tibia OMIM:275230
Branchiogenic Deafness Syndrome
Branchial cyst, Short stature, Branchial fistula ORPHA:50815
Chiari Malformation Type Ii
Myelomeningocele, Agenesis of corpus callosum, Spina bifida, Hydrocephalus, Cervical myelopathy OMIM:207950
Familial Atrial Myxoma
Cardiac myxoma, Congestive heart failure, Bacterial endocarditis, Pedal edema, Heart murmur, Pulm... ORPHA:615
Pulmonary Capillary Hemangiomatosis
Pedal edema, Pleural effusion, Pericardial effusion, Pulmonary edema ORPHA:199241
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Patent foramen ovale, Atrial septal defect, Ventricular septal defect, Pe... ORPHA:26793
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Cervical spina bifida, Short neck, Growth delay, Postnatal growth retardation, Low posterior hair... OMIM:600122
Diarrhea 10, Protein-Losing Enteropathy Type
Anasarca, Pleural effusion, Polyhydramnios, Ascites, Pericardial effusion OMIM:618183
Abnormal cerebral morphology, Cerebral white matter atrophy, Neural tube defect, Microcephaly, Ca... ORPHA:79321
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Pericardial effusion OMIM:115200
Gaucher Disease Type 3
Abnormal myocardium morphology, Abnormal heart valve morphology, Hydrops fetalis, Growth delay, M... ORPHA:77261
Fabry Disease
Abnormal myocardium morphology, Abnormal endocardium morphology, Cognitive impairment, Mucosal te... ORPHA:324
Cerebrocostomandibular Syndrome
Cerebral calcification, Webbed neck, Myelomeningocele, Intrauterine growth retardation, Hydranenc... ORPHA:1393
Hennekam Syndrome
Chylothorax, Delayed eruption of teeth, Hydrops fetalis, Mild postnatal growth retardation, Lymph... ORPHA:2136
Mosaic Trisomy 9
Webbed neck, Abnormal heart valve morphology, Intrauterine growth retardation, Patent ductus arte... ORPHA:99776
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Amish Lethal Microcephaly
Microcephaly, Lissencephaly, Spina bifida, Agenesis of corpus callosum ORPHA:99742
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Patent ductus arteriosus, Atrial septal defect, Abnormal aortic valve morphology, Spina bifida, B... ORPHA:1120
Ophthalmomandibulomelic Dysplasia
Coxa valga, Fibular hypoplasia, Ulnar deviated club hands, Lateral humeral condyle aplasia, Radia... OMIM:164900
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Myhre Syndrome
Short neck, Intrauterine growth retardation, Patent ductus arteriosus, Atrial septal defect, Micr... OMIM:139210
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Microphthalmia With Limb Anomalies
Toe syndactyly, Hand oligodactyly, Postaxial foot polydactyly, Fibular hypoplasia, 4-5 metacarpal... OMIM:206920
Kaposiform Lymphangiomatosis
Abnormality of the neck, Pleural effusion, Pericardial effusion ORPHA:464329
Q Fever
Abnormal heart valve morphology, Endocarditis, Myocarditis, Pleural effusion, Pericarditis, Peric... ORPHA:781
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Midsystolic murmur, Paroxysmal atrial fibrillation, Holosystolic murmur... ORPHA:1677
Tibial Hemimelia
Absent tibia OMIM:275220
Caudal Duplication
Spina bifida, Myelomeningocele ORPHA:1756
Histiocytoid Cardiomyopathy
Shortened PR interval, Atrial flutter, Ventricular tachycardia, Congestive heart failure, Wolff-P... ORPHA:137675
Abnormal pulmonary valve morphology, Tetralogy of Fallot, Short neck, Panhypopituitarism, Aplasia... ORPHA:2162
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Congenital Aortic Valve Stenosis
Abnormal T-wave, Aortic valve atresia, Reduced ejection fraction, Endocardial fibroelastosis, Dys... ORPHA:3093
Branchiootorenal Syndrome 1
Branchial cyst, Abnormal cerebral morphology, Branchial fistula OMIM:113650
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Fountain Syndrome
Spina bifida occulta, Spina bifida, Facial edema, Short stature ORPHA:3219
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Clinodactyly, Tapered finger, Right bundle branch block, Tricuspid regurgitation, Mitral regurgit... OMIM:619576
Branchial cyst, Dehydration, Secundum atrial septal defect ORPHA:2260
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Abnormal pulmonary valve morphology, Arrhythmia, Abnormal mitral... ORPHA:500
Eiken Syndrome
Clinodactyly, Flattened epiphysis, Delayed ossification of carpal bones, Type A1 brachydactyly, F... OMIM:600002
Marbach-Rustad Progeroid Syndrome
Pulmonary insufficiency, Femur fracture, Right bundle branch block, Micrognathia, Ventricular sep... OMIM:619322
Myelomeningocele, Cystic hygroma, Rhizomelia, Anencephaly, Spinal dysraphism, Lissencephaly, Spin... ORPHA:63259
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Hypoplasia of the corpus callosum, Cystic hygroma, Agenesis of corpus callosum, Atrial septal def... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Hypoplasia of the corpus callosum, Cystic hygroma, Agenesis of corpus callosum, Atrial septal def... ORPHA:352665
Atelosteogenesis, Type I
Vertebral hypoplasia, Talipes, 11 pairs of ribs, Micrognathia, Brachydactyly, Short humerus, Club... OMIM:108720
Tsh-Secreting Pituitary Adenoma
Elevated circulating growth hormone concentration, Increased circulating prolactin concentration,... ORPHA:91347
Fibrochondrogenesis 1
Hypoplastic ischia, Patent foramen ovale, Short palm, Fibular hypoplasia, Posterior vertebral hyp... OMIM:228520
Otopalatodigital Syndrome, Type Ii
Short thumb, Micrognathia, Bulbous tips of toes, Irregular metacarpals, Short ribs, Broad hallux,... OMIM:304120
Eisenmenger Syndrome
Right-to-left shunt, Left-to-right shunt, Increased pulmonary vascular resistance, Right bundle b... ORPHA:97214
Czeizel-Losonci Syndrome
Myelomeningocele, Dextrocardia, Thickened nuchal skin fold, Spina bifida, Hydrocephalus, Spina bi... ORPHA:2437
Chédiak-Higashi Syndrome
Edema, Pleural effusion, Pericardial effusion ORPHA:167
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Distal 22Q11.2 Microdeletion Syndrome
Intrauterine growth retardation, Atrial septal defect, Growth delay, Microcephaly, Short stature,... ORPHA:261330
Neu-Laxova Syndrome 1
Short umbilical cord, Short neck, Intrauterine growth retardation, Patent foramen ovale, Patent d... OMIM:256520
Simpson-Golabi-Behmel Syndrome
Toe syndactyly, Short 2nd finger, Finger syndactyly, Atrial septal defect, Clinodactyly of the 5t... ORPHA:373
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Bor Syndrome
Branchial cyst ORPHA:107
Scorpion Envenomation
Increased circulating troponin I concentration, Premature ventricular contraction, Arrhythmia, Co... ORPHA:466677
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Carpal synostosis, Clinodactyly of the 5th finger, Micrognathia, Patellar dislocation... OMIM:274000
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Cutis Laxa, Autosomal Recessive, Type Iid
Congestive heart failure, Atrial septal defect, Hypertrophic cardiomyopathy, Right bundle branch ... OMIM:617403
Distal 22Q11.2 Microduplication Syndrome
Webbed neck, Patent ductus arteriosus, Palpebral edema, Tricuspid valve prolapse, Microcephaly, B... ORPHA:261337
Acrofacial Dysostosis, Rodríguez Type
Abnormality of pelvic girdle bone morphology, Finger syndactyly, Hand oligodactyly, Fibular hypop... ORPHA:1788
Neu-Laxova Syndrome
Abnormal cortical gyration, Cerebral calcification, Intrauterine growth retardation, Microcephaly... ORPHA:2671
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Mucosal telangiectasiae, Arrhythmia, Bundle branch block, Telangiect... ORPHA:93672
Acro-Renal-Mandibular Syndrome
Rudimentary fibula, Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Hypoplasia o... ORPHA:958
Brachymesomelia-Renal Syndrome
Fibular hypoplasia, Hypoplasia of the radius, Micrognathia, Ulnar bowing, Mesomelic arm shortening OMIM:113470
Trisomy 18
Webbed neck, Intrauterine growth retardation, Atrial septal defect, Aplasia/Hypoplasia of the cor... ORPHA:3380
Chylothorax, Ascites, Lymphedema, Hydrocephalus, Chylopericardium ORPHA:538
Cardiac Diverticulum
Aplasia/Hypoplasia of the sternum, Tricuspid atresia, Premature ventricular contraction, Dextroca... ORPHA:1686
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Pleural effusion, Pericardial effusion OMIM:108050
Chronic Thromboembolic Pulmonary Hypertension
Right atrial enlargement, Abnormal T-wave, Right ventricular dilatation, Abnormal left ventricula... ORPHA:70591
Glycogen Storage Disease Of Heart, Lethal Congenital
Shortened PR interval, Congestive heart failure, Biventricular hypertrophy, Hypotension, Cardiomy... OMIM:261740
Orofaciodigital Syndrome X
Coalescence of tarsal bones, Preaxial hand polydactyly, Fibular aplasia, Hand oligodactyly OMIM:165590
Occipital Horn Syndrome
Brachydactyly, Coxa valga, Short palm, Absent tibia, Pes planus, Aplastic clavicle, Abnormality o... ORPHA:198
Crimean-Congo Hemorrhagic Fever
Subconjunctival hemorrhage, Bundle branch block, Hypertension, Hematemesis, Subdural hemorrhage, ... ORPHA:99827
Spina bifida, Sirenomelia ORPHA:3169
Hydrolethalus Syndrome 1
Complete atrioventricular canal defect, Upper limb undergrowth, Duplication of phalanx of hallux,... OMIM:236680
Vacterl With Hydrocephalus
Intrauterine growth retardation, Polyhydramnios, Spina bifida, Hydrocephalus, Aqueductal stenosis... ORPHA:3412
Pelvis-Shoulder Dysplasia
Hydranencephaly, Short stature, Mesomelic/rhizomelic limb shortening, Spina bifida, Hydrocephalus... ORPHA:2839
Waardenburg Syndrome Type 1
Spina bifida, Meningocele ORPHA:894
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Dilated cardiomyopathy, Pericardial effusion, Pulmonary edema ORPHA:73224
Posterior Meningocele
Occipital meningocele, Limitation of neck motion, Lipomyelomeningocele, Neural tube defect, Hydro... ORPHA:268810
Kyphomelic Dysplasia
Short metacarpal, Tibial bowing, Dumbbell-shaped humerus, Micrognathia, Micromelia, Ulnar bowing,... OMIM:211350
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Postaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Radial bowing, ... OMIM:601027
Nestor-Guillermo Progeria Syndrome
Right atrial enlargement, Sinus tachycardia, Osteolytic defects of the distal phalanges of the ha... OMIM:614008
Gitelman Syndrome
Cerebral calcification, Delayed puberty, Pericardial effusion ORPHA:358
Phocomelia, Schinzel Type
Bowing of the long bones, Talipes, Hand oligodactyly, Aplasia/Hypoplasia involving the pelvis, Hy... ORPHA:2879
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Acrorenal-Mandibular Syndrome
Rudimentary fibula, Toe syndactyly, Missing ribs, Foot polydactyly, Hypoplasia of the ulna, Hypop... OMIM:200980
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Atrial septal defect, Biventricular hypertrophy, Pes planus, Right bundle b... OMIM:617402
Generalized Arterial Calcification Of Infancy
Cerebral calcification, Myocardial calcification, Hydrops fetalis, Encephalomalacia, Polyhydramni... ORPHA:51608
Campomelic Dysplasia
Bowing of the long bones, Hypoplastic inferior ilia, Fibular hypoplasia, 11 pairs of ribs, Tibial... ORPHA:140
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Brachydactyly, Irregular epiphyses, Metaphyseal irregularity, Hypoplasia of the ulna, Foot polyda... OMIM:208500
Limb Body Wall Complex
Short umbilical cord, Myelomeningocele, Ectopia cordis, Atrial septal defect, Anencephaly, Abnorm... ORPHA:2369
Campomelic Dysplasia
Narrow iliac wing, Absent sternal ossification, Fibular hypoplasia, Pes planus, 11 pairs of ribs,... OMIM:114290
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Slender long bone, Right bundle branch block OMIM:618590
Absence Of The Pulmonary Artery
Tetralogy of Fallot, Atrial flutter, Patent foramen ovale, Reduced ejection fraction, Congestive ... ORPHA:980
Leopard Syndrome 1
Missing ribs, Subvalvular aortic stenosis, Third degree atrioventricular block, Hypertrophic card... OMIM:151100
Aorta Coarctation
Tetralogy of Fallot, Cardiomegaly, Congestive heart failure, Pulmonary arterial hypertension, Hyp... ORPHA:1457
Trisomy 20P
Umbilical hernia, Spina bifida, Short neck, Low posterior hairline ORPHA:261318
Treacher-Collins Syndrome
Patent ductus arteriosus, Branchial fistula, Encephalocele ORPHA:861
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Patent foramen ovale, Atrial septal defect, Anxiety, Right bundle branch block, Pulmonic stenosis... OMIM:617506
Acromelic Frontonasal Dysplasia
Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly ORPHA:1827
Pagod Syndrome
Situs inversus totalis, Microcephaly, Hypoplastic left heart, Short stature, Spina bifida, Mening... ORPHA:991
Schneckenbecken Dysplasia
Advanced tarsal ossification, Hypoplastic vertebral bodies, Fibular hypoplasia, Short ribs, Incre... ORPHA:3144
Sarcoidosis, Susceptibility To, 1
Pleural effusion, Pericardial effusion OMIM:181000
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Truncus arteriosus, Tetralogy of Fallot, Hypoplasia of the corpus callosum, Short neck, Agenesis ... ORPHA:508498
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/Hypoplasia involving the carpal bones, Aplasia of the ulna, Carpal bone aplasia, Aplasia/... OMIM:276820
Jacobsen Syndrome
Webbed neck, Cerebral atrophy, Short neck, Intrauterine growth retardation, Agenesis of corpus ca... ORPHA:2308
22Q11.2 Deletion Syndrome
Abnormal pulmonary valve morphology, Hydrocephalus, Tetralogy of Fallot, Occipital myelomeningoce... ORPHA:567
Fanconi Anemia
Tetralogy of Fallot, Intrauterine growth retardation, Patent ductus arteriosus, Atrial septal def... ORPHA:84
Focal Dermal Hypoplasia
Patent ductus arteriosus, Spina bifida, Ventricular septal defect, Umbilical hernia, Abnormal car... ORPHA:2092
8Q24.3 Microdeletion Syndrome
Branchial cyst, Complete atrioventricular canal defect, Truncus arteriosus, Hypoplasia of the cor... ORPHA:508488
Charge Syndrome
Overriding aorta, Bilateral talipes equinovarus, Tetralogy of Fallot, Hypoplasia of the ulna, Abs... OMIM:214800
Basal Cell Nevus Syndrome
Cardiac fibroma, Cardiac rhabdomyoma, Calcification of falx cerebri, Spina bifida, Hydrocephalus OMIM:109400
Aicardi Syndrome
Cavum septum pellucidum, Dilated third ventricle, Microcephaly, Partial agenesis of the corpus ca... OMIM:304050
Cranioectodermal Dysplasia 1
Brachydactyly, Clinodactyly, Flattened epiphysis, Broad toe, Broad distal phalanges of all finger... OMIM:218330
Lumbar Syndrome
Spina bifida, Myelomeningocele ORPHA:83628
Nail-Patella Syndrome
Short stature, Spina bifida OMIM:161200
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Patent ductus arteriosus, Thin corpus callosum, Partial agenesis of the corpus callosum, Spina bi... OMIM:619480
Singleton-Merten Syndrome 1
Hypoplastic distal radial epiphyses, Expanded phalanges with widened medullary cavities, Expanded... OMIM:182250
Branchiooculofacial Syndrome
Short neck, Intrauterine growth retardation, Microcephaly, Postnatal growth retardation, Branchia... OMIM:113620
Hallermann-Streiff Syndrome
Proportionate short stature, Microcephaly, Spina bifida, Natal tooth OMIM:234100
Waardenburg Syndrome, Type 1
Spina bifida, Myelomeningocele OMIM:193500
Koolen-De Vries Syndrome Due To A Point Mutation
Hypoplasia of the corpus callosum, Pineal cyst, Agenesis of corpus callosum, Atrial septal defect... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypoplasia of the corpus callosum, Pineal cyst, Agenesis of corpus callosum, Atrial septal defect... ORPHA:363958
Vater/Vacterl Association
Tetralogy of Fallot, Intrauterine growth retardation, Patent ductus arteriosus, Occipital encepha... OMIM:192350
Osteopathia Striata With Cranial Sclerosis
Paranasal sinus hypoplasia, Fibular hypoplasia, Atrial septal defect, Clinodactyly of the 5th fin... OMIM:300373
Camptodactyly Syndrome, Guadalajara, Type I
Brachydactyly, Toe syndactyly, Short palm, Short femoral neck, Fibular hypoplasia, Twelfth rib hy... OMIM:211910
Cloacal Exstrophy
Spina bifida, Myelomeningocele ORPHA:93929
Orofaciodigital Syndrome Type 4
Genu varum, Finger syndactyly, Aplasia/Hypoplasia of the mandible, Micrognathia, Micromelia, Apla... ORPHA:2753
Semilobar Holoprosencephaly
Agenesis of corpus callosum, Panhypopituitarism, Growth delay, Abnormal morphology of the olfacto... ORPHA:220386
Alobar Holoprosencephaly
Agenesis of corpus callosum, Panhypopituitarism, Growth delay, Abnormal morphology of the olfacto... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Agenesis of corpus callosum, Panhypopituitarism, Growth delay, Abnormal morphology of the olfacto... ORPHA:93926
Lobar Holoprosencephaly
Agenesis of corpus callosum, Panhypopituitarism, Growth delay, Abnormal morphology of the olfacto... ORPHA:93924
Craniofacial Microsomia
Tetralogy of Fallot, Agenesis of corpus callosum, Patent ductus arteriosus, Occipital encephaloce... OMIM:164210
Anasarca, Hypertrophic cardiomyopathy, Elevated circulating growth hormone concentration, Increas... ORPHA:79318
Neurofibromatosis, Type I
Short stature, Spina bifida, Aqueductal stenosis, Hydrocephalus OMIM:162200
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Brachydactyly, Hypoplasia of proximal radius, Patent foramen ovale, Fibular hypoplasia, Congestiv... ORPHA:444077
Congenital Total Pulmonary Venous Return Anomaly
Mixed total anomalous pulmonary venous connection, Dextrocardia, Double outlet right ventricle, H... ORPHA:99125
Exstrophy-Epispadias Complex
Microcephaly, Abnormal heart morphology, Spina bifida, Hydrocephalus ORPHA:322
Split Cord Malformation
Myelomeningocele, Cervical spina bifida, Lipomyelomeningocele, Hydrocephalus, Hydromyelia, Mening... ORPHA:573278
Sotos Syndrome
No permanent dentition, Cerebral atrophy, Patent ductus arteriosus, Atrial septal defect, Cavum s... ORPHA:821
Luscan-Lumish Syndrome
Advanced ossification of carpal bones, Anxiety, Long foot, Aggressive behavior OMIM:616831


Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

Phenotype Allele Zygosity Sex Life Stage
Eye - MPATH pathological process term dysplasia Setd2tm1b(NCOM)Mfgc HOM Early adult
Femur - MPATH pathological process term hyperostosis Setd2tm1b(NCOM)Mfgc HOM Early adult
Tibia - MPATH pathological process term hyperostosis Setd2tm1b(NCOM)Mfgc HOM Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Setd2.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Enteropathy-associated T cell lymphoma subtypes are characterized by loss of function of SETD2. The Journal of experimental medicine (April 2017) Setd2tm1c(NCOM)Mfgc Setd2tm1a(NCOM)Mfgc PMC5413324

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MGI Allele Allele Type Produced
Setd2tm1b(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Setd2tm1a(NCOM)Mfgc KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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