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Gene: Otud6b MGI:1919451

Gene Summary

Name:

OTU domain containing 6B

Synonyms:

2600013N14Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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
increased basophil cell number		Otud6b^{tm1b(EUCOMM)Wtsi}	HET		Early adult	1.71×10^-19
preweaning lethality, incomplete penetrance		Otud6b^{tm1b(EUCOMM)Wtsi}	HOM		Early adult	0.00

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	Wholemount images	heterozygote	100% (2 of 2)
Aorta	Wholemount images	heterozygote	100% (2 of 2)
Brain	Wholemount images	heterozygote	100% (2 of 2)
Brainstem	Wholemount images	heterozygote	100% (2 of 2)
Cartilage tissue	Wholemount images	heterozygote	100% (2 of 2)
Cerebellum	Wholemount images	heterozygote	100% (2 of 2)
Cerebral cortex	Wholemount images	heterozygote	100% (2 of 2)
Esophagus	Wholemount images	heterozygote	100% (2 of 2)
Gall bladder	Wholemount images	heterozygote	100% (2 of 2)
Heart	Wholemount images	heterozygote	100% (2 of 2)
Hippocampus	Wholemount images	heterozygote	100% (2 of 2)
Hypothalamus	Wholemount images	heterozygote	100% (2 of 2)
Kidney	Wholemount images	heterozygote	100% (2 of 2)
Large intestine	Wholemount images	heterozygote	50% (1 of 2)
Lower urinary tract	Wholemount images	heterozygote	100% (2 of 2)
Olfactory lobe	Wholemount images	heterozygote	100% (2 of 2)
Oral epithelium	Wholemount images	heterozygote	100% (2 of 2)
Ovary	Wholemount images	heterozygote	Not available
Oviduct	Wholemount images	heterozygote	50% (1 of 2)
Parathyroid gland	Wholemount images	heterozygote	100% (2 of 2)
Peripheral nervous system	Wholemount images	heterozygote	100% (2 of 2)
Pituitary gland	Wholemount images	heterozygote	100% (2 of 2)
Skeletal muscle	Wholemount images	heterozygote	100% (2 of 2)
Skin	Wholemount images	heterozygote	100% (2 of 2)
Spinal cord	Wholemount images	heterozygote	100% (2 of 2)
Stomach	Wholemount images	heterozygote	100% (2 of 2)
Striatum	Wholemount images	heterozygote	100% (2 of 2)
Testis	Wholemount images	heterozygote	50% (1 of 2)
Trachea	Wholemount images	heterozygote	100% (2 of 2)
Uterus	Wholemount images	heterozygote	50% (1 of 2)
Vascular system	Wholemount images	heterozygote	100% (2 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Brain	N/A	heterozygote	50% (1 of 2)
Brain	N/A	homozygote	50% (1 of 2)
Ear	N/A	heterozygote	50% (1 of 2)
Ear	N/A	homozygote	50% (1 of 2)
Embryo	N/A	heterozygote	100% (2 of 2)
Embryo	N/A	homozygote	100% (2 of 2)
Eye	N/A	heterozygote	50% (1 of 2)
Eye	N/A	homozygote	50% (1 of 2)
Footplate	N/A	heterozygote	50% (1 of 2)
Footplate	N/A	homozygote	50% (1 of 2)
Forebrain	N/A	heterozygote	50% (1 of 2)
Forebrain	N/A	homozygote	50% (1 of 2)
Forelimb	N/A	heterozygote	50% (1 of 2)
Forelimb	N/A	homozygote	50% (1 of 2)
Handplate	N/A	heterozygote	50% (1 of 2)
Handplate	N/A	homozygote	50% (1 of 2)
Head	N/A	heterozygote	100% (2 of 2)
Head	N/A	homozygote	100% (2 of 2)
Heart	N/A	heterozygote	50% (1 of 2)
Heart	N/A	homozygote	50% (1 of 2)
Hindbrain	N/A	heterozygote	50% (1 of 2)
Hindbrain	N/A	homozygote	50% (1 of 2)
Hindlimb	N/A	heterozygote	50% (1 of 2)
Hindlimb	N/A	homozygote	50% (1 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	homozygote	50% (1 of 2)
Lung	N/A	heterozygote	50% (1 of 2)
Lung	N/A	homozygote	50% (1 of 2)
Mandibular process	N/A	heterozygote	50% (1 of 2)
Mandibular process	N/A	homozygote	50% (1 of 2)
Maxillary process	N/A	heterozygote	50% (1 of 2)
Maxillary process	N/A	homozygote	50% (1 of 2)
Midbrain	N/A	heterozygote	50% (1 of 2)
Midbrain	N/A	homozygote	50% (1 of 2)
Oral cavity	N/A	heterozygote	50% (1 of 2)
Oral cavity	N/A	homozygote	50% (1 of 2)
Skin	N/A	heterozygote	50% (1 of 2)
Skin	N/A	homozygote	50% (1 of 2)
Tail somite	N/A	heterozygote	50% (1 of 2)
Tail somite	N/A	homozygote	50% (1 of 2)
Tail	N/A	heterozygote	50% (1 of 2)
Tail	N/A	homozygote	50% (1 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.67% (4 of 598)
aorta	0.17% (1 of 598)
bone	0.0%
brain	0.84% (5 of 598)
brainstem	0.33% (2 of 598)
brown adipose tissue	0.0%
cartilage tissue	0.17% (1 of 598)
cerebellum	0.5% (3 of 598)
cerebral cortex	0.33% (2 of 598)
esophagus	1.66% (7 of 422)
eye	0.0%
gall bladder	0.0%
heart	0.33% (2 of 598)
hippocampus	0.5% (3 of 598)
hypothalamus	0.33% (2 of 598)
kidney	4.52% (27 of 598)
large intestine	5.35% (32 of 598)
liver	0.0%
lower urinary tract	0.17% (1 of 598)
lung	0.33% (2 of 598)
lymph node	0.17% (1 of 598)
mammary gland	0.0%
olfactory lobe	0.33% (2 of 598)
oral epithelium	0.0%
ovary	0.17% (1 of 598)
oviduct	0.0%
pancreas	0.84% (5 of 598)
parathyroid gland	0.17% (1 of 576)
peripheral nervous system	0.33% (2 of 598)
peyers patch	0.0%
pituitary gland	0.17% (1 of 598)
prostate gland	2.17% (13 of 598)
skeletal muscle	0.0%
skin	0.17% (1 of 598)
small intestine	5.35% (32 of 598)
spinal cord	0.5% (3 of 598)
spleen	0.5% (3 of 598)
stomach	3.68% (22 of 598)
striatum	0.5% (3 of 598)
testis	1% (6 of 598)
thymus	0.17% (1 of 598)
thyroid gland	3.01% (18 of 598)
trachea	0.5% (3 of 598)
uterus	0.33% (2 of 598)
vascular system	0.0%
white adipose tissue	0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
brain	1.17% (6 of 511)
ear	0.2% (1 of 511)
embryo	0.39% (2 of 512)
eye	0.2% (1 of 511)
footplate	0.2% (1 of 511)
forebrain	0.2% (1 of 511)
forelimb	0.2% (1 of 511)
handplate	0.2% (1 of 511)
head	0.98% (5 of 511)
heart	0.2% (1 of 511)
hindbrain	1.17% (6 of 511)
hindlimb	0.2% (1 of 511)
liver	0.2% (1 of 506)
lung	0.2% (1 of 506)
mandibular process	0.2% (1 of 511)
maxillary process	0.2% (1 of 511)
midbrain	0.2% (1 of 511)
oral cavity	0.2% (1 of 506)
skin	0.2% (1 of 511)
tail	0.2% (1 of 511)
tail somite group	0.2% (1 of 511)

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

View images

Adult LacZ

LacZ Images Wholemount

19 Images

View images

Echo

M-Mode Images

32 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

View images

Embryo LacZ

LacZ images wholemount

8 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

View images

MicroCT E14.5-E15.5

Embryo reconstruction

4 Images

View images

MicroCT E18.5

Embryo reconstruction

2 Images

View images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

View images

Legacy Phenotype Associated Images

Otud6b^{tm1a(EUCOMM)Wtsi}
body, WT, Female, WTSI

Otud6b^{tm1a(EUCOMM)Wtsi}
forearm, WT, Female, WTSI

Otud6b^{tm1a(EUCOMM)Wtsi}
head, HOM, Male, WTSI

Otud6b^{tm1a(EUCOMM)Wtsi}
forearm, HOM, Male, WTSI

Otud6b^{tm1a(EUCOMM)Wtsi}
forearm, HOM, Female, WTSI

View all 106 images

Otud6b^{tm1a(EUCOMM)Wtsi}
back skin, HOM, Female, WTSI

Human diseases caused by Otud6b 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.

Human diseases associated with Otud6b (2 diseases)
Human diseases predicted to be associated with Otud6b (587 diseases)

The table below shows human diseases associated to Otud6b by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies		Intrauterine growth retardation, Atrial septal defect, Ventricular septal defect	OMIM:617452
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome		Intrauterine growth retardation, Atrial septal defect, Ventricular septal defect	ORPHA:505237

The table below shows human diseases predicted to be associated to Otud6b by phenotypic similarity.

Disease	Matching phenotypes	Source
Carbimazole Sensitivity	Drug-induced agranulocytosis	OMIM:212060
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel...	ORPHA:521
Ventricular Septal Defect 1	Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall...	OMIM:614429
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Cayler Cardiofacial Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Neutropenia, Lethal Congenital, With Eosinophilia	Neutropenia, Eosinophilia	OMIM:257100
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Congenital Heart Defects, Multiple Types, 4	Atrioventricular canal defect, Ventricular septal defect, Hypoplastic left heart, Aortic valve st...	OMIM:615779
Atrioventricular Septal Defect 5	Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect	OMIM:614474
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect	OMIM:601127
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Pulmonary Atresia With Ventricular Septal Defect	Ventricular septal defect	OMIM:178370
Eng-Strom Syndrome	Intrauterine growth retardation, Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:1937
Cranioacrofacial Syndrome	Pulmonic stenosis, Ventricular septal defect	OMIM:122850
Congenital Heart Defects, Multiple Types, 5	Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy...	OMIM:617912
Spinal Muscular Atrophy, Type I	Death in childhood, Ventricular septal defect, Atrial septal defect	OMIM:253300
Heart Defects-Limb Shortening Syndrome	Ventricular septal defect, Abnormal mitral valve morphology, Death in infancy, Atrial septal defe...	ORPHA:1354
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, Neutropenia, B lymphocytopenia	OMIM:613107
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc...	OMIM:202700
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Sonoda Syndrome	Ventricular septal defect	OMIM:270460
Tricuspid Atresia	Patent foramen ovale, Ventricular septal defect, Transposition of the great arteries, Atrial sept...	ORPHA:1209
Atrial Septal Defect 2	Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pul...	OMIM:607941
Peroxisome Biogenesis Disorder 8A (Zellweger)	Ventricular septal defect, Death in infancy	OMIM:614876
Immunodeficiency 60 And Autoimmunity	Splenomegaly, Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count	OMIM:618394
Megabladder, Congenital	Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:618719
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Ventricular Septal Defect 3	Ventricular septal defect, Atrial septal defect	OMIM:614432
Systemic Mastocytosis With Associated Hematologic Neoplasm	Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C...	ORPHA:98849
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Intrauterine growth retardation, Ventricular septal defect	ORPHA:2515
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Death in childhood, Ventricular septal defect	OMIM:613759
Hypoplastic Left Heart Syndrome 2	Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect	OMIM:614435
Mesoaxial Hexadactyly And Cardiac Malformation	Pulmonic stenosis, Ventricular septal defect, Atrial septal defect	OMIM:249670
Congenital Heart Defects, Multiple Types, 2	Subvalvular aortic stenosis, Ventricular septal defect, Bicuspid aortic valve, Aortic valve steno...	OMIM:614980
Fetal Minoxidil Syndrome	Ventricular septal defect	ORPHA:1918
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Ventricular septal defect, Atrial septal defect	OMIM:614249
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect	OMIM:617992
Aortic Valve Disease 1	Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Mitral stenosis, Bicusp...	OMIM:109730
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
Coenzyme Q10 Deficiency, Primary, 7	Hypoplastic left heart, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular...	OMIM:616276
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect	OMIM:235750
Adams-Oliver Syndrome 4	Ventricular septal defect, Atrial septal defect	OMIM:615297
Feingold Syndrome Type 2	Ventricular septal defect	ORPHA:391646
Indomethacin Embryofetopathy	Ventricular septal defect, Atrial septal defect, Cardiomyopathy	ORPHA:1909
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial septal defect, Left ventr...	OMIM:108900
Feingold Syndrome 2	Ventricular septal defect	OMIM:614326
Atrial Septal Defect 1	Subvalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot with pulmonary atresi...	OMIM:108800
Nemaline Myopathy 9	Ventricular septal defect	OMIM:615731
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Ventricular septal defect, Death in infancy	OMIM:613730
Cardiomyopathy, Dilated, 2D	Patent foramen ovale, Interstitial cardiac fibrosis, Death in infancy, Dilated cardiomyopathy, Mu...	OMIM:619371
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect	OMIM:212090
46,Xx Sex Reversal 5	Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect	OMIM:618901
Mmep Syndrome	Ventricular septal defect	ORPHA:3434
Catel-Manzke Syndrome	Ventricular septal defect, Atrial septal defect	ORPHA:1388
Left Ventricular Noncompaction 1	Ventricular septal defect, Left ventricular hypertrophy, Noncompaction cardiomyopathy, Left ventr...	OMIM:604169
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Ventricular septal defect, Atrial septal defect	OMIM:608227
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect, Death in infancy	OMIM:616277
Congenital Heart Defects, Multiple Types, 6	Double outlet right ventricle, Ventricular septal defect, Secundum atrial septal defect, Complete...	OMIM:613854
Fadd-Related Immunodeficiency	Ventricular septal defect	ORPHA:306550
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Intrauterine growth retardation, Ventricular septal defect	OMIM:617021
Bardet-Biedl Syndrome 19	Hypoplastic left heart, Ventricular septal defect, Atrial septal defect	OMIM:615996
Polysyndactyly With Cardiac Malformation	Atrial septal defect, Ventricular septal defect, Stillbirth	OMIM:263630
8P23.1 Duplication Syndrome	Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect	ORPHA:251076
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Pulmonic stenosis, Ventricular septal defect, Atrial septal defect	OMIM:614262
Xk Aprosencephaly Syndrome	Ventricular septal defect, Atrial septal defect	ORPHA:3469
Intellectual Developmental Disorder, Autosomal Recessive 73	Ventricular septal defect	OMIM:619717
16P13.11 Microduplication Syndrome	Tetralogy of Fallot, Transposition of the great arteries, Ventricular septal defect, Atrial septa...	ORPHA:261243
Lambert Syndrome	Intrauterine growth retardation, Ventricular septal defect	ORPHA:1296
Primary Non-Essential Cutis Verticis Gyrata	Ventricular septal defect, Atrial septal defect	ORPHA:357225
Genitopalatocardiac Syndrome	Double outlet right ventricle, Transposition of the great arteries, Ventricular septal defect	OMIM:231060
Microphthalmia, Syndromic 12	Hypoplastic left atrium, Ventricular septal defect	OMIM:615524
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Common atrium, Atrial septal defect, Dextrocar...	OMIM:208530
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Ventricular septal defect, Abnormal cardiac septum morphology	ORPHA:83473
Short Stature, Developmental Delay, And Congenital Heart Defects	Patent foramen ovale, Ventricular septal defect, Atrial septal defect	OMIM:617044
Heterotaxy, Visceral, 4, Autosomal	Atrioventricular canal defect, Ventricular septal defect, Transposition of the great arteries, De...	OMIM:613751
Chromosome 15Q14 Deletion Syndrome	Ventricular septal defect, Atrial septal defect	OMIM:616898
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Hypoplastic left heart, Ventricular septal defect	ORPHA:2476
Fetal Trimethadione Syndrome	Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Transposition of the great ...	ORPHA:1913
14Q11.2 Microdeletion Syndrome	Ventricular septal defect	ORPHA:261120
Weill-Marchesani Syndrome	Aortic valve stenosis, Pulmonic stenosis, Ventricular septal defect	ORPHA:3449
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Ventricular septal defect, Truncus arteriosus	OMIM:601355
Autosomal Dominant Coarctation Of Aorta	Hypoplastic left heart, Ventricular septal defect	ORPHA:1455
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplastic left heart, Intrauterine growth retardation, Ventricular septal defect	ORPHA:2772
Ritscher-Schinzel Syndrome 1	Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect...	OMIM:220210
Hadziselimovic Syndrome	Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect	OMIM:612946
Li-Campeau Syndrome	Patent foramen ovale, Ventricular septal defect, Atrial septal defect	OMIM:619189
8Q12 Microduplication Syndrome	Ventricular septal defect, Atrial septal defect	ORPHA:228399
Criss-Cross Heart	Ventricular septal defect, Abnormal mitral valve morphology, Mitral stenosis, Tricuspid stenosis,...	ORPHA:1461
Hypotonia, Infantile, With Psychomotor Retardation	Ventricular septal defect	OMIM:616816
Grange Syndrome	Ventricular septal defect	ORPHA:79094
Meacham Syndrome	Ventricular septal defect, Cardiac total anomalous pulmonary venous connection, Death in infancy,...	OMIM:608978
Heterotaxy, Visceral, 8, Autosomal	Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec...	OMIM:617205
Aase-Smith Syndrome I	Ventricular septal defect, Death in infancy	OMIM:147800
Global Developmental Delay With Or Without Impaired Intellectual Development	Ventricular septal defect, Atrial septal defect	OMIM:618330
Cardiofaciocutaneous Syndrome 3	Hypertrophic cardiomyopathy, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect	OMIM:615279
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Ventricular septal defect	OMIM:618506
Lambotte Syndrome	Intrauterine growth retardation, Ventricular septal defect	OMIM:245552
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Ventricular septal defect	ORPHA:94066
Filippi Syndrome	Intrauterine growth retardation, Ventricular septal defect	OMIM:272440
Li-Ghorbani-Weisz-Hubshman Syndrome	Ventricular septal defect, Atrial septal defect	OMIM:618974
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Intrauterine growth retardation, Truncus arteriosus, Ventricular septal defect	ORPHA:2516
Timothy Syndrome	Patent foramen ovale, Cardiomegaly, Tetralogy of Fallot, Ventricular septal defect	OMIM:601005
Congenitally Uncorrected Transposition Of The Great Arteries	Ventricular septal defect, Abnormal mitral valve morphology, Levotransposition of the great arter...	ORPHA:860
Thiamine-Responsive Megaloblastic Anemia Syndrome	Situs inversus totalis, Ventricular septal defect, Atrial septal defect, Cardiomyopathy	OMIM:249270
Noonan Syndrome 12	Tetralogy of Fallot, Ventricular septal defect	OMIM:618624
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolapse, Atrial septal defect, ...	OMIM:612561
14Q24.1Q24.3 Microdeletion Syndrome	Abnormal heart morphology, Truncus arteriosus, Atrial septal defect, Ventricular septal defect	ORPHA:401935
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Hypoplastic right heart, Intrauterine growth retardation, Atrial septal defect, Ventricular septa...	OMIM:618142
Recombinant Chromosome 8 Syndrome	Double outlet right ventricle, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall...	OMIM:179613
Fixed Subaortic Stenosis	Atrioventricular canal defect, Bacterial endocarditis, Ventricular septal defect, Abnormal cardia...	ORPHA:3092
Neurooculocardiogenitourinary Syndrome	Patent foramen ovale, Cardiomegaly, Ventricular septal defect, Atrial septal defect	OMIM:618652
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Atrial septal defect	ORPHA:49827
Leigh Syndrome With Leukodystrophy	Hypertrophic cardiomyopathy, Ventricular septal defect	ORPHA:255241
Trigonocephaly With Short Stature And Developmental Delay	Ventricular septal defect	OMIM:314320
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal tricuspid valve morphology, Ventricular septal defect	ORPHA:3405
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tetralogy of Fallot, Ventricular septal defect	ORPHA:1166
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Ventricular septal defect	ORPHA:3369
Congenital Rubella Syndrome	Intrauterine growth retardation, Atrial septal defect, Ventricular septal defect	ORPHA:290
Tyshchenko Syndrome	Pulmonic stenosis, Intrauterine growth retardation, Atrial septal defect, Ventricular septal defect	OMIM:615102
Cardiac Valvular Dysplasia 1	Patent foramen ovale, Ventricular septal defect, Valvular pulmonary stenosis, Mitral stenosis, Mi...	OMIM:212093
Developmental And Epileptic Encephalopathy 66	Dextrocardia, Ventricular septal defect, Atrial septal defect	OMIM:618067
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Death in childhood, Ventricular septal defect, Death in infancy	OMIM:616901
Joubert Syndrome 18	Intrauterine growth retardation, Ventricular septal defect	OMIM:614815
Diamond-Blackfan Anemia 12	Ventricular septal defect	OMIM:615550
Noonan Syndrome 8	Ventricular septal defect, Left ventricular hypertrophy, Atrial septal defect, Hypertrophic cardi...	OMIM:615355
3C Syndrome	Atrioventricular canal defect, Ventricular septal defect, Abnormal mitral valve morphology, Death...	ORPHA:7
Microcephaly-Capillary Malformation Syndrome	Patent foramen ovale, Right ventricular hypertrophy, Ventricular septal defect, Atrial septal defect	OMIM:614261
Delpire-Mcneill Syndrome	Ventricular septal defect	OMIM:619083
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Ventricular septal defect	OMIM:610338
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphol...	ORPHA:284169
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect	OMIM:214300
Methimazole Embryofetopathy	Intrauterine growth retardation, Ventricular septal defect	ORPHA:1923
Roifman Syndrome	Noncompaction cardiomyopathy, Intrauterine growth retardation, Ventricular septal defect	OMIM:616651
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventricular septal defect	OMIM:602501
Heterotaxy, Visceral, 12, Autosomal	Patent foramen ovale, Double outlet right ventricle, Congenitally corrected transposition of the ...	OMIM:619702
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hypertrophic cardiomyopathy, Death in childhood, Intrauterine growth retardation, Ventricular sep...	OMIM:612938
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Atrial septal defect, Abnormal heart morphology, Total anomalous pulmo...	ORPHA:261183
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ventricular septal defect	ORPHA:93267
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Parachute mitral ...	OMIM:618316
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Intrauterine growth retardation, Atrial septal defect, Ventricular septal defect	ORPHA:75389
Woods Syndrome	Ventricular septal defect	OMIM:615236
Intellectual Developmental Disorder, Autosomal Dominant 47	Intrauterine growth retardation, Ventricular septal defect	OMIM:617635
Intellectual Developmental Disorder, Autosomal Dominant 48	Bicuspid aortic valve, Intrauterine growth retardation, Ventricular septal defect	OMIM:617751
Pontocerebellar Hypoplasia, Type 17	Secundum atrial septal defect, Intrauterine growth retardation, Ventricular septal defect	OMIM:619909
X-Linked Lissencephaly With Abnormal Genitalia	Ventricular septal defect, Death in infancy	ORPHA:452
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Bicuspid aortic valve, Patent foramen ovale, Abnormal heart morphology, Ventricular septal defect	ORPHA:500159
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Ventricular septal defect	OMIM:607598
Congenital Gerbode Defect	Bacterial endocarditis, Ventricular septal defect, Perimembranous ventricular septal defect, Pulm...	ORPHA:99095
Adams-Oliver Syndrome 6	Ventricular septal defect, Truncus arteriosus	OMIM:616589
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect	OMIM:126320
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Ventricular septal defect, Dextrocardia	OMIM:616037
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Ventricular septal defect, Atrial septal defect	OMIM:613870
Congenital Disorder Of Glycosylation, Type Iil	Ventricular septal defect, Intrauterine growth retardation, Atrial septal defect, Death in infancy	OMIM:614576
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Patent foramen ovale, Ventricular septal defect, Death in infancy, Atrial septal defect, Right ve...	OMIM:208085
Jansen-De Vries Syndrome	Bicuspid aortic valve, Ventricular septal defect	OMIM:617450
Congenital Alveolar Capillary Dysplasia	Atrioventricular canal defect, Pulmonary valve atresia, Ventricular septal defect, Bicuspid aorti...	ORPHA:210122
Holt-Oram Syndrome	Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Hypoplastic left ...	ORPHA:392
Meckel Syndrome, Type 4	Intrauterine growth retardation, Atrial septal defect, Ventricular septal defect	OMIM:611134
Oculoauriculofrontonasal Syndrome	Ventricular septal defect	ORPHA:398156
Desbuquois Syndrome	Ventricular septal defect	ORPHA:1425
Structural Heart Defects And Renal Anomalies Syndrome	Ventricular septal defect, Truncus arteriosus, Death in infancy, Atrial septal defect, Partial an...	OMIM:617478
Pyruvate Dehydrogenase E1-Alpha Deficiency	Intrauterine growth retardation, Ventricular septal defect	ORPHA:79243
Suleiman-El-Hattab Syndrome	Patent foramen ovale, Ventricular septal defect, Atrial septal defect	OMIM:618950
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Bicuspid aortic valve, Patent foramen ovale, Ventricular septal defect, Atrial septal defect	ORPHA:329224
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Right ventricular hypertrophy, Ventricular septal defect, Death in infancy	OMIM:613404
Periventricular Nodular Heterotopia 7	Ventricular septal defect	OMIM:617201
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Ventricular septal defect	ORPHA:2256
Warsaw Breakage Syndrome	Tetralogy of Fallot, Intrauterine growth retardation, Ventricular septal defect	OMIM:613398
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Secundum atrial septal defect, Ventricular septal defect, Atrial septal defect, Perimembranous ve...	OMIM:600987
Burn-Mckeown Syndrome	Ventricular septal defect, Atrial septal defect	OMIM:608572
Coffin-Siris Syndrome 7	Bicuspid aortic valve, Patent foramen ovale, Ventricular septal defect	OMIM:618027
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Patent foramen ovale, Abnormal heart morphology, Ventricular septal defect, Atrial septal defect	OMIM:618494
Noonan Syndrome 9	Pulmonic stenosis, Ventricular septal defect	OMIM:616559
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect	OMIM:618504
Transaldolase Deficiency	Patent foramen ovale, Intrauterine growth retardation, Atrial septal defect, Ventricular septal d...	OMIM:606003
Fanconi Anemia, Complementation Group I	Patent foramen ovale, Intrauterine growth retardation, Atrial septal defect, Ventricular septal d...	OMIM:609053
Acrocardiofacial Syndrome	Ventricular septal defect, Truncus arteriosus, Death in infancy, Mitral stenosis, Atrial septal d...	ORPHA:2008
Serkal Syndrome	Pulmonic stenosis, Ventricular septal defect	ORPHA:139466
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Intrauterine growth retardation, Atrial septal defect, Ventricular septal defect	OMIM:617452
Isolated Klippel-Feil Syndrome	Ventricular septal defect	ORPHA:2345
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect	OMIM:609654
Emanuel Syndrome	Truncus arteriosus, Ventricular septal defect, Atrial septal defect, Intrauterine growth retardat...	OMIM:609029
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic v...	ORPHA:477817
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Patent foramen ovale, Abnormal heart morphology, Ventricular septal defect	ORPHA:369891
Rere-Related Neurodevelopmental Syndrome	Abnormal heart morphology, Intrauterine growth retardation, Ventricular septal defect	ORPHA:494344
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Cardiomegaly, Intrauterine growth retardation, Ventricular septal de...	OMIM:616897
Weiss-Kruszka Syndrome	Dextrotransposition of the great arteries, Bicuspid aortic valve, Left ventricular hypertrophy, V...	OMIM:618619
Chromosome 1P36 Deletion Syndrome, Proximal	Patent foramen ovale, Ventricular septal defect, Coronary artery fistula, Bicuspid aortic valve, ...	OMIM:619343
Aminopterin/Methotrexate Embryofetopathy	Situs inversus totalis, Tetralogy of Fallot, Intrauterine growth retardation, Ventricular septal ...	ORPHA:1908
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Overriding aorta, Ventricular septal defect, Atrial septal defect	OMIM:601927
Trisomy 13	Intrauterine growth retardation, Atrial septal defect, Ventricular septal defect	ORPHA:3378
Skraban-Deardorff Syndrome	Ventricular septal defect	OMIM:617616
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec...	OMIM:619657
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Ventricular septal defect	OMIM:601357
Inverted Duplicated Chromosome 15 Syndrome	Tetralogy of Fallot, Ventricular septal defect	ORPHA:3306
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Intrauterine growth retardation, Atrial septal defect, Ventricular septal defect	ORPHA:505237
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Pericardial effusion, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular s...	OMIM:618775
19P13.3 Microduplication Syndrome	Intrauterine growth retardation, Ventricular septal defect	ORPHA:447980
Prune Belly Syndrome	Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect	ORPHA:2970
Donnai-Barrow Syndrome	Ventricular septal defect	ORPHA:2143
Double Outlet Right Ventricle	Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Hypoplastic left he...	ORPHA:3426
Scimitar Syndrome	Double outlet right ventricle, Mitral atresia, Truncus arteriosus, Ventricular septal defect, Atr...	ORPHA:185
Brachydactyly, Type B1	Ventricular septal defect	OMIM:113000
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Biventricular hypertrophy, Left ventricular hypertrophy, Ventricular septal defect, Patent forame...	OMIM:615474
Neurodevelopmental Disorder With Language Delay And Seizures	Ventricular septal defect	OMIM:619908
Congenitally Corrected Transposition Of The Great Arteries	Abnormal left ventricular outflow tract morphology, Ambiguous atrioventricular connection, Double...	ORPHA:216694
Ritscher-Schinzel Syndrome 2	Ventricular septal defect, Atrial septal defect	OMIM:300963
Cardiac Diverticulum	Endocarditis, Patent foramen ovale, Congenital defect of the pericardium, Ventricular septal defe...	ORPHA:1686
King-Denborough Syndrome	Ventricular septal defect	OMIM:619542
Diamond-Blackfan Anemia 5	Ventricular septal defect	OMIM:612528
Braddock-Carey Syndrome 1	Aortic valve prolapse, Ventricular septal defect	OMIM:619980
Pontocerebellar Hypoplasia, Type 8	Patent foramen ovale, Ventricular septal defect	OMIM:614961
Heterotaxy, Visceral, 1, X-Linked	Subvalvular aortic stenosis, Atrioventricular canal defect, Right atrial isomerism, Double outlet...	OMIM:306955
Insulin-Like Growth Factor I, Resistance To	Patent foramen ovale, Intrauterine growth retardation, Atrial septal defect, Ventricular septal d...	OMIM:270450
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ventricular septal defect, Death in childhood, Intrauterine growth retardation, Death in infancy	OMIM:243150
22Q11.2 Duplication Syndrome	Hypoplastic left heart, Tetralogy of Fallot, Transposition of the great arteries, Ventricular sep...	ORPHA:1727
Emanuel Syndrome	Truncus arteriosus, Ventricular septal defect, Atrial septal defect, Intrauterine growth retardat...	ORPHA:96170
Microphthalmia, Syndromic 9	Truncus arteriosus, Ventricular septal defect, Hypoplastic left atrium, Pulmonic stenosis, Atrial...	OMIM:601186
Filippi Syndrome	Intrauterine growth retardation, Ventricular septal defect	ORPHA:3255
Fanconi Anemia, Complementation Group B	Ventricular septal defect, Intrauterine growth retardation, Death in infancy	OMIM:300514
15Q14 Microdeletion Syndrome	Ventricular septal defect, Atrial septal defect	ORPHA:261190
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Patent foramen ovale, Ventricular septal defect, Atrial septal defect	OMIM:618870
Tatton-Brown-Rahman Syndrome	Ventricular septal defect, Atrial septal defect	OMIM:615879
Diamond-Blackfan Anemia 7	Secundum atrial septal defect, Tetralogy of Fallot, Intrauterine growth retardation, Ventricular ...	OMIM:612562
Chromosome 6Pter-P24 Deletion Syndrome	Patent foramen ovale, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect	OMIM:612582
Laubry-Pezzi Syndrome	Patent foramen ovale, Ventricular septal defect, Subarterial ventricular septal defect, Perimembr...	ORPHA:99094
19P13.12 Microdeletion Syndrome	Intrauterine growth retardation, Atrial septal defect, Ventricular septal defect	ORPHA:254346
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Ventricular septal defect, Atrial septal defect	OMIM:301039
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Ventricular septal defect	OMIM:616730
Craniofacial Dyssynostosis With Short Stature	Ventricular septal defect	OMIM:218350
Diabetic Embryopathy	Tetralogy of Fallot, Transposition of the great arteries, Ventricular septal defect	ORPHA:1926
Spondylo-Ocular Syndrome	Ventricular septal defect	ORPHA:85194
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Ventricular septal defect	OMIM:615630
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Abnormal heart morphology, Ventricular septal defect	ORPHA:254534
Atrioventricular septal defect 3	Atrioventricular canal defect, Primum atrial septal defect, Inlet ventricular septal defect	OMIM:600309
Craniofaciofrontodigital Syndrome	Ventricular septal defect, Pericardial effusion, Bicuspid aortic valve, Atrial septal defect, Aor...	ORPHA:363705
Meacham Syndrome	Conotruncal defect, Ventricular septal defect, Atrial septal defect, Hypoplastic left heart, Anom...	ORPHA:3097
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Ventricular septal defect, Atrial septal defect	OMIM:603387
Heterotaxy, Visceral, 5, Autosomal	Right atrial isomerism, Atrioventricular canal defect, Double outlet right ventricle, Ventricular...	OMIM:270100
Phaver Syndrome	Intrauterine growth retardation, Ventricular septal defect	ORPHA:2876
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Double outlet right ventricle, Pulmonic stenosis, Intrauterine growth retardation, Ventricular se...	OMIM:301056
Chromosome 18Q Deletion Syndrome	Absence of the pulmonary valve, Ventricular septal defect, Dysplastic aortic valve, Atrial septal...	OMIM:601808
Noonan Syndrome 4	Hypertrophic cardiomyopathy, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect	OMIM:610733
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Ventricular septal defect, Atrial septal defect	OMIM:220500
Keutel Syndrome	Ventricular septal defect	ORPHA:85202
Stankiewicz-Isidor Syndrome	Truncus arteriosus, Ventricular septal defect	OMIM:617516
Pelger-Huet Anomaly	Ventricular septal defect	OMIM:169400
Transketolase Deficiency	Patent foramen ovale, Abnormal heart morphology, Ventricular septal defect, Atrial septal defect	ORPHA:488618
Short Stature-Micrognathia Syndrome	Intrauterine growth retardation, Ventricular septal defect	OMIM:617164
Seckel Syndrome 9	Intrauterine growth retardation, Atrial septal defect, Ventricular septal defect	OMIM:616777
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Ventricular septal defect, Atrial septal defect	OMIM:619769
Codas Syndrome	Ventricular septal defect	ORPHA:1458
Myopathy With Extrapyramidal Signs	Ventricular septal defect	OMIM:615673
Kury-Isidor Syndrome	Ventricular septal defect	OMIM:619762
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Mitral valve pro...	ORPHA:371428
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Intrauterine growth retardation, Atrial septal defect, Ventricular septal defect	OMIM:617360
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Abn...	ORPHA:457279
Cooper-Jabs Syndrome	Ventricular septal defect	ORPHA:1488
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Ventricular septal defect, Atrial septal defect	OMIM:617061
Costello Syndrome	Hypertrophic cardiomyopathy, Mitral valve prolapse, Pulmonic stenosis, Ventricular septal defect	ORPHA:3071
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Dextrotransposition of the great arteries, Ventricular septal defect	OMIM:619995
Heart Defects, Congenital, And Other Congenital Anomalies	Patent foramen ovale, Truncus arteriosus, Ventricular septal defect, Perimembranous ventricular s...	OMIM:600001
Mosaic Variegated Aneuploidy Syndrome 2	Subvalvular aortic stenosis, Ventricular septal defect, Atrial septal defect, Severe intrauterine...	OMIM:614114
3P25.3 Microdeletion Syndrome	Pulmonic stenosis, Ventricular septal defect, Atrial septal defect	ORPHA:435638
Severe X-Linked Intellectual Disability, Gustavson Type	Ventricular septal defect	ORPHA:3078
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Abnormal heart morphology, Ventricular septal defect	ORPHA:404440
Kagami-Ogata Syndrome	Pulmonic stenosis, Ventricular septal defect, Atrial septal defect	OMIM:608149
19Q13.11 Microdeletion Syndrome	Intrauterine growth retardation, Ventricular septal defect	ORPHA:217346
Carpenter Syndrome 1	Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Transposition of the great ...	OMIM:201000
Kapur-Toriello Syndrome	Intrauterine growth retardation, Atrial septal defect, Ventricular septal defect	OMIM:244300
Thakker-Donnai Syndrome	Tetralogy of Fallot, Transposition of the great arteries, Intrauterine growth retardation, Ventri...	ORPHA:1780
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Overriding aorta, Intrauterine growth retardation, Ventricular septal defect	OMIM:617022
Lissencephaly 9 With Complex Brainstem Malformation	Ventricular septal defect	OMIM:618325
Hand-Foot-Genital Syndrome	Ventricular septal defect, Miscarriage	ORPHA:2438
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Ventricular septal defect	OMIM:617895
Maternal Phenylketonuria	Double outlet right ventricle, Ventricular septal defect, Hypoplastic left heart, Abnormal heart ...	ORPHA:2209
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Pulmonic stenosis, Ventricular septal defect	OMIM:615508
Radio-Tartaglia Syndrome	Ventricular septal defect	OMIM:619312
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Ventricular septal defect	OMIM:620073
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Beaulieu-Boycott-Innes Syndrome	Ventricular septal defect	OMIM:613680
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Patent foramen ovale, Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, At...	ORPHA:26793
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Ventricular septal defect	OMIM:618348
Chromosome 15Q25 Deletion Syndrome	Ventricular septal defect, Abnormal cardiac septum morphology, Coronary artery fistula, Dextrocar...	OMIM:614294
Contractural Arachnodactyly, Congenital	Bicuspid aortic valve, Mitral valve prolapse, Ventricular septal defect, Atrial septal defect	OMIM:121050
Char Syndrome	Ventricular septal defect	ORPHA:46627
Noonan Syndrome 10	Ventricular septal defect, Mitral stenosis, Mitral valve prolapse, Left ventricular hypertrophy, ...	OMIM:616564
Kapur-Toriello Syndrome	Tetralogy of Fallot, Ventricular septal defect	ORPHA:2328
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Intrauterine growth retardation, Ventricular septal defect	ORPHA:166035
Pseudotrisomy 13 Syndrome	Ventricular septal defect, Atrial septal defect, Dextrocardia, Complete atrioventricular canal de...	OMIM:264480
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Ventricular septal defect	ORPHA:369929
Mosaic Trisomy 9	Ventricular septal defect, Abnormal heart valve morphology, Atrial septal defect, Dextrocardia, I...	ORPHA:99776
Yuan-Harel-Lupski Syndrome	Bicuspid aortic valve, Double outlet right ventricle, Ventricular septal defect	OMIM:616652
Johnson Neuroectodermal Syndrome	Ventricular septal defect	OMIM:147770
Zellweger Syndrome	Ventricular septal defect, Death in infancy	ORPHA:912
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect	OMIM:619123
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Patent foramen ovale, Intrauterine growth retardation, Ventricular septal defect	OMIM:620113
Orotic Aciduria	Ventricular septal defect, Atrial septal defect	OMIM:258900
Alagille Syndrome	Intrauterine growth retardation, Atrial septal defect, Ventricular septal defect	ORPHA:52
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Ventricular septal defect, Dysplastic pulmonary valve	OMIM:619103
Chromosome 9P Deletion Syndrome	Ventricular septal defect, Atrial septal defect, Perimembranous ventricular septal defect	OMIM:158170
Noonan Syndrome 2	Atrioventricular canal defect, Ventricular septal defect, Mitral stenosis, Atrial septal defect, ...	OMIM:605275
Aortic Arch Interruption	Double outlet right ventricle, Aortic valve atresia, Aortopulmonary window, Truncus arteriosus, V...	ORPHA:2299
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Ventricular septal defect, Atrial septal defect	ORPHA:457193
Cat Eye Syndrome	Ventricular septal defect, Atrial septal defect, Hypoplastic left heart, Total anomalous pulmonar...	OMIM:115470
Sifrim-Hitz-Weiss Syndrome	Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect	OMIM:617159
Congenital Heart Defects And Skeletal Malformations Syndrome	Intrauterine growth retardation, Atrial septal defect, Ventricular septal defect	OMIM:617602
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Ventricular septal defect, Atrial septal defect	ORPHA:2519
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Neonatal death, Ventricular septal defect, Atrial septal defect, Coronary artery fistula	OMIM:620024
Sotos Syndrome	Muscular ventricular septal defect, Ventricular septal defect, Atrial septal defect	OMIM:117550
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Intrauterine growth retardation, Atrial septal defect, Ventricular septal defect	OMIM:300998
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Ventricular septal defect	ORPHA:1770
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum...	OMIM:620066
Fanconi Anemia, Complementation Group N	Ventricular septal defect	OMIM:610832
Kohlschutter-Tonz Syndrome-Like	Ventricular septal defect, Intrauterine growth retardation, Death in adolescence	OMIM:619229
Dysosteosclerosis	Ventricular septal defect	ORPHA:1782
Gm1 Gangliosidosis	Abnormal heart morphology, Ventricular septal defect, Cardiomyopathy	ORPHA:354
Heart And Brain Malformation Syndrome	Ventricular septal defect	OMIM:616920
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Intrauterine growth retardation, Ventricular septal defect	OMIM:611812
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventricular septal defect, Atrial septal defect	OMIM:616449
Bohring-Opitz Syndrome	Intrauterine growth retardation, Atrial septal defect, Ventricular septal defect	OMIM:605039
Pentalogy Of Cantrell	Abnormal pericardium morphology, Tetralogy of Fallot, Ventricular septal defect, Atrial septal de...	ORPHA:1335
Ventriculomegaly With Cystic Kidney Disease	Ventricular septal defect	OMIM:219730
Encephalocraniocutaneous Lipomatosis	Subvalvular aortic stenosis, Ventricular septal defect, Atrial septal defect	OMIM:613001
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Atrial septal de...	ORPHA:453499
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Ventricular septal defect, Atrial septal defect	OMIM:610978
Koolen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Intrauterine growth retar...	OMIM:610443
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Ventricular septal defect, Death in infancy	OMIM:235255
Teebi Hypertelorism Syndrome 1	Ventricular septal defect, Atrial septal defect	OMIM:145420
Ogden Syndrome	Ventricular septal defect	ORPHA:276432
Ellis Van Creveld Syndrome	Atrioventricular canal defect, Ventricular septal defect, Abnormal heart valve morphology, Atrial...	ORPHA:289
Mandibulofacial Dysostosis, Guion-Almeida Type	Ventricular septal defect, Atrial septal defect	OMIM:610536
Trisomy 1Q	Ventricular septal defect	ORPHA:261344
Noonan Syndrome 3	Patent foramen ovale, Ventricular septal defect, Mitral valve prolapse, Atrial septal defect, Hyp...	OMIM:609942
Joubert Syndrome 14	Ventricular septal defect	OMIM:614424
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Ventricular septal defect, Atrial septal defect	OMIM:309520
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Atrioventricular canal defect, Patent foramen ovale, Pulmonary valve atresia, Ventricular septal ...	OMIM:265380
Short-Rib Thoracic Dysplasia 12	Patent foramen ovale, Neonatal death, Intrauterine growth retardation, Ventricular septal defect	OMIM:269860
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Patent foramen ovale, Ventricular septal defect, Hypoplastic tricuspid valve, Pulmonic stenosis, ...	ORPHA:2255
Cerebrocostomandibular Syndrome	Ventricular septal defect, Intrauterine growth retardation, Death in infancy	ORPHA:1393
Distal Monosomy 19P13.3	Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse	ORPHA:96129
Peroxisome Biogenesis Disorder 5A (Zellweger)	Ventricular septal defect, Death in infancy, Atrial septal defect, Death in adolescence, Intraute...	OMIM:614866
Chromosome 1Q41-Q42 Deletion Syndrome	Ventricular septal defect	OMIM:612530
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Ventricular septal defect	ORPHA:52055
Distal Trisomy 5Q	Dextrocardia, Ventricular septal defect	ORPHA:96097
Trichothiodystrophy 4, Nonphotosensitive	Ventricular septal defect	OMIM:234050
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Ventricular septal defect	ORPHA:77298
Truncus Arteriosus	Truncus arteriosus, Ventricular septal defect, Transposition of the great arteries, Pulmonic sten...	ORPHA:3384
Cohen Syndrome	Mitral valve prolapse, Intrauterine growth retardation, Ventricular septal defect	ORPHA:193
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Ventricular septal defect	OMIM:106260
Cardiac-Urogenital Syndrome	Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlargement, Pericardial effusi...	OMIM:618280
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial effusion, Atrial septal defect, Ventricular septal defect, Pericardial lymphangiectasia	OMIM:235510
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Tetralogy of Fallot, Death in childhood, Ventricular septal defect	OMIM:600460
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Bicuspid aortic valve, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect	OMIM:610759
Brain-Lung-Thyroid Syndrome	Patent foramen ovale, Atrial septal defect, Ventricular septal defect, Abnormal cardiac septum mo...	ORPHA:209905
Tetraamelia Syndrome 2	Ventricular septal defect	OMIM:618021
Kleefstra Syndrome	Bicuspid aortic valve, Tetralogy of Fallot, Ventricular septal defect	ORPHA:261494
Leigh Syndrome	Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular septal defect	ORPHA:506
16Q24.3 Microdeletion Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:261250
Down Syndrome	Atrioventricular canal defect, Double outlet right ventricle, Patent foramen ovale, Ventricular s...	OMIM:190685
Recombinant 8 Syndrome	Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect	ORPHA:96167
Donnai-Barrow Syndrome	Ventricular septal defect	OMIM:222448
Peroxisome Biogenesis Disorder 1A (Zellweger)	Death in childhood, Ventricular septal defect	OMIM:214100
16P13.11 Microdeletion Syndrome	Ventricular septal defect, Atrial septal defect	ORPHA:261236
Chops Syndrome	Patent foramen ovale, Anomalous pulmonary venous return, Ventricular septal defect	OMIM:616368
Lateral Meningocele Syndrome	Bicuspid aortic valve, Ventricular septal defect	OMIM:130720
Holt-Oram Syndrome	Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect	OMIM:142900
Congenital Disorder Of Glycosylation, Type Iia	Ventricular septal defect	OMIM:212066
Congenital Tracheomalacia	Ventricular septal defect, Single ventricle, Atrial septal defect, Abnormal heart morphology, Par...	ORPHA:95430
Pallister-Hall Syndrome	Neonatal death, Intrauterine growth retardation, Ventricular septal defect	OMIM:146510
Congenital Disorder Of Glycosylation, Type It	Cardiomegaly, Ventricular septal defect, Dilated cardiomyopathy	OMIM:614921
Lateral Meningocele Syndrome	Ventricular septal defect	ORPHA:2789
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Ventricular septal defect	OMIM:300472
Syndromic Diarrhea	Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Abnormal heart morphology...	ORPHA:84064
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Ventricular septal defect	ORPHA:251028
Phelan-Mcdermid Syndrome	Ventricular septal defect	OMIM:606232
Rabson-Mendenhall Syndrome	Cardiomyopathy, Intrauterine growth retardation, Atrial septal defect, Ventricular septal defect	ORPHA:769
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Aortopulmonary window, Ventricular septal defect, Atrial septal defect, Hypoplastic left heart, T...	ORPHA:99050
C Syndrome	Ventricular septal defect	OMIM:211750
X Small Rings	Mitral stenosis, Bicuspid aortic valve, Ventricular septal defect	ORPHA:96201
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Ventricular septal defect, Perimembranous ventricular septal defect	OMIM:301040
Distal 22Q11.2 Microdeletion Syndrome	Atrial septal defect, Intrauterine growth retardation, Truncus arteriosus, Ventricular septal defect	ORPHA:261330
Frank-Ter Haar Syndrome	Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Secundum atrial s...	OMIM:249420
Van Esch-O'Driscoll Syndrome	Pulmonary valve atresia, Intrauterine growth retardation, Atrial septal defect, Ventricular septa...	OMIM:301030
Loeys-Dietz Syndrome 5	Patent foramen ovale, Ventricular septal defect, Atrial septal defect	OMIM:615582
Weill-Marchesani Syndrome 1	Aortic valve stenosis, Pulmonic stenosis, Ventricular septal defect	OMIM:277600
Mckusick-Kaufman Syndrome	Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect	ORPHA:2473
Brachytelephalangic Chondrodysplasia Punctata	Ventricular septal defect, Atrial septal defect	ORPHA:79345
Alg9-Cdg	Ventricular septal defect, Pericardial effusion, Abnormal left ventricular outflow tract morpholo...	ORPHA:79328
3Q29 Microduplication Syndrome	Ventricular septal defect	ORPHA:251038
Craniofacioskeletal Syndrome	Intrauterine growth retardation, Atrial septal defect, Ventricular septal defect	OMIM:300712
Trisomy 18	Intrauterine growth retardation, Atrial septal defect, Ventricular septal defect	ORPHA:3380
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Patent foramen ovale, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect	OMIM:617506
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Intrauterine growth retardation, Ventricular septal defect	OMIM:614653
Autosomal Recessive Robinow Syndrome	Ventricular septal defect, Death in infancy, Atrial septal defect, Abnormal pulmonary valve morph...	ORPHA:1507
Intellectual Developmental Disorder, Autosomal Dominant 53	Ventricular septal defect	OMIM:617798
Trichothiodystrophy	Cardiomyopathy, Intrauterine growth retardation, Ventricular septal defect	ORPHA:33364
Coffin-Siris Syndrome 4	Mitral atresia, Ventricular septal defect, Atrial septal defect, Intrauterine growth retardation,...	OMIM:614609
Mosaic Trisomy 16	Abnormal heart morphology, Intrauterine growth retardation, Atrial septal defect, Ventricular sep...	ORPHA:1708
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventricular septal defect, Atrial septal defect	ORPHA:464738
Histiocytosis-Lymphadenopathy Plus Syndrome	Ventricular septal defect, Mitral valve prolapse, Atrial septal defect, Cardiomegaly, Pulmonic st...	OMIM:602782
Cerebellofaciodental Syndrome	Mitral valve prolapse, Ventricular septal defect	OMIM:616202
De Barsy Syndrome	Intrauterine growth retardation, Ventricular septal defect	ORPHA:2962
Orofaciodigital Syndrome V	Tetralogy of Fallot, Ventricular septal defect	OMIM:174300
Chromosome 14Q11-Q22 Deletion Syndrome	Patent foramen ovale, Ventricular septal defect	OMIM:613457
Adams-Oliver Syndrome 1	Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Hypoplastic left heart, A...	OMIM:100300
Trichohepatoenteric Syndrome 1	Pulmonic stenosis, Tetralogy of Fallot, Intrauterine growth retardation, Ventricular septal defect	OMIM:222470
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Ventricular septal defect	OMIM:178110
Mosaic Trisomy 1	Ventricular septal defect	ORPHA:1692
Mgat2-Cdg	Abnormal heart morphology, Ventricular septal defect	ORPHA:79329
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Atrioventricular canal defect, Truncus arteriosus, Ventricular septal defect, Perimembranous vent...	ORPHA:508498
Mosaic Trisomy 20	Dysplastic tricuspid valve, Intrauterine growth retardation, Abnormal mitral valve morphology, Ve...	ORPHA:1724
Tbck-Related Intellectual Disability Syndrome	Pulmonic stenosis, Ventricular septal defect	ORPHA:488632
Codas Syndrome	Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect	OMIM:600373
Jacobsen Syndrome	Ventricular septal defect, Death in infancy, Hypoplastic left heart, Aortic valve stenosis, Intra...	ORPHA:2308
Kaufman Oculocerebrofacial Syndrome	Ventricular septal defect, Atrial septal defect	OMIM:244450
7Q11.23 Microduplication Syndrome	Aortic valve stenosis, Ventricular septal defect, Atrial septal defect	ORPHA:96121
Marshall-Smith Syndrome	Dysplastic aortic valve, Death in childhood, Ventricular septal defect, Atrial septal defect	OMIM:602535
Jacobsen Syndrome	Intrauterine growth retardation, Atrial septal defect, Ventricular septal defect	OMIM:147791
Fanconi Anemia, Complementation Group C	Intrauterine growth retardation, Ventricular septal defect	OMIM:227645
Combined Oxidative Phosphorylation Deficiency 15	Ventricular septal defect, Ventricular septal hypertrophy	OMIM:614947
Duane-Radial Ray Syndrome	Ventricular septal defect, Atrial septal defect	OMIM:607323
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Hypoplastic left heart, Patent foramen ovale, Tetralogy of Fallot, Ventricular septal defect	OMIM:618748
X-Linked Intellectual Disability, Nascimento Type	Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Mitral stenosis, ...	ORPHA:163956
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Ventricular septal defect	OMIM:615503
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Tetralogy of Fallot, Transposition of the great arteries, Ventricular septal defect	OMIM:280000
Marden-Walker Syndrome	Ventricular septal defect, Situs inversus totalis, Dextrocardia, Abnormal anatomic location of th...	ORPHA:2461
Robinow Syndrome, Autosomal Dominant 3	Hypoplastic right heart, Patent foramen ovale, Ventricular septal defect	OMIM:616894
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Ventricular septal defect	OMIM:250410
Coffin-Siris Syndrome	Ventricular septal defect, Atrial septal defect, Abnormal heart morphology, Tetralogy of Fallot, ...	ORPHA:1465
2Q31.1 Microdeletion Syndrome	Ventricular septal defect, Atrial septal defect	ORPHA:251014
Oculodentodigital Dysplasia	Ventricular septal defect	ORPHA:2710
Teebi-Shaltout Syndrome	Aortic valve stenosis, Ventricular septal defect	OMIM:272950
Ogden Syndrome	Patent foramen ovale, Ventricular septal defect, Perimembranous ventricular septal defect, Bicusp...	OMIM:300855
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Ventricular septal defect	ORPHA:1655
Diamond-Blackfan Anemia 10	Ventricular septal defect	OMIM:613309
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Hypertrophic cardiomyopathy, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect	OMIM:607721
Focal Dermal Hypoplasia	Ventricular septal defect, Abnormal cardiac septum morphology	ORPHA:2092
Opitz Gbbb Syndrome	Patent foramen ovale, Abnormal heart morphology, Ventricular septal defect, Atrial septal defect	ORPHA:2745
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Histiocytoid cardiomyopathy, Ventricular septal defect, Atrial septal defect	OMIM:309801
Thrombocytopenia-Absent Radius Syndrome	Atrioventricular canal defect, Ventricular septal defect, Death in infancy, Atrial septal defect,...	OMIM:274000
Lymphedema-Distichiasis Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:153400
Developmental Delay With Or Without Dysmorphic Facies And Autism	Patent foramen ovale, Ventricular septal defect	OMIM:618454
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Patent foramen ovale, Ventricular septal defect, Death in infancy, Atrial septal defect, Muscular...	OMIM:210710
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic valve stenosis, Intrauterine growth retardation, Ventricular septal defect	ORPHA:464311
Trichohepatoneurodevelopmental Syndrome	Ventricular septal defect	OMIM:618268
Meier-Gorlin Syndrome 7	Complete atrioventricular canal defect, Ventricular septal defect, Atrial septal defect	OMIM:617063
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Ventricular septal defect	OMIM:619306
Opitz Gbbb Syndrome	Ventricular septal defect	OMIM:300000
Paternal Uniparental Disomy Of Chromosome 6	Cardiomegaly, Intrauterine growth retardation, Ventricular septal defect	ORPHA:96191
Renal Agenesis	Ventricular septal defect	ORPHA:411709
Cornelia De Lange Syndrome 1	Intrauterine growth retardation, Ventricular septal defect	OMIM:122470
Cerebellar-Facial-Dental Syndrome	Mitral valve prolapse, Ventricular septal defect	ORPHA:444072
Larsen Syndrome	Intrauterine growth retardation, Atrial septal defect, Ventricular septal defect	OMIM:150250
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Left ventricular noncompac...	OMIM:300967
Dyrk1A-Related Intellectual Disability Syndrome	Aortic valve stenosis, Intrauterine growth retardation, Ventricular septal defect	ORPHA:464306
Diamond-Blackfan Anemia 1	Tricuspid stenosis, Intrauterine growth retardation, Atrial septal defect, Ventricular septal defect	OMIM:105650
Apert Syndrome	Overriding aorta, Ventricular septal defect	OMIM:101200
Goldberg-Shprintzen Syndrome	Ventricular septal defect	OMIM:609460
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Patent foramen ovale, Intrauterine growth retardation, Ventricular septal defect	OMIM:616975
Myhre Syndrome	Ventricular septal defect, Pericardial effusion, Atrial septal defect, Aortic valve stenosis, Int...	OMIM:139210
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Bicuspid aortic valve, Abnormal heart morphology, Ventricular septal defect, Atrial septal defect	ORPHA:453504
Holoprosencephaly 13, X-Linked	Hypoplastic left heart, Patent foramen ovale, Ventricular septal defect, Double outlet right vent...	OMIM:301043
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Bicuspid aortic valve, Abnormal heart morphology, Ventricular septal defect, Atrial septal defect	ORPHA:352665
Velocardiofacial Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:192430
Weill-Marchesani Syndrome 2	Aortic valve stenosis, Pulmonic stenosis, Ventricular septal defect	OMIM:608328
Neu-Laxova Syndrome 1	Patent foramen ovale, Ventricular septal defect, Stillbirth, Neonatal death, Transposition of the...	OMIM:256520
Holoprosencephaly	Tetralogy of Fallot, Ventricular septal defect, Abnormal pulmonary valve morphology	ORPHA:2162
Chime Syndrome	Pulmonary valve atresia, Tetralogy of Fallot, Transposition of the great arteries, Ventricular se...	ORPHA:3474
Arboleda-Tham Syndrome	Ventricular septal defect, Secundum atrial septal defect, Atrial septal defect, Intrauterine grow...	OMIM:616268
Robinow Syndrome	Pulmonary valve atresia, Ventricular septal defect, Atrial septal defect, Abnormal heart morpholo...	ORPHA:97360
22Q11.2 Deletion Syndrome	Truncus arteriosus, Ventricular septal defect, Abnormal aortic valve morphology, Atrial septal de...	ORPHA:567
Ulnar-Mammary Syndrome	Ventricular septal defect	ORPHA:3138
Osteopathia Striata With Cranial Sclerosis	Ventricular septal defect, Atrial septal defect	OMIM:300373
Congenital Total Pulmonary Venous Return Anomaly	Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Cardiac total anomalous...	ORPHA:99125
Smith-Lemli-Opitz Syndrome	Atrioventricular canal defect, Intrauterine growth retardation, Atrial septal defect, Ventricular...	ORPHA:818
Fryns Syndrome	Atrial septal defect, Ventricular septal defect, Stillbirth	OMIM:229850
Phace Association	Ventricular septal defect	OMIM:606519
Koolen-De Vries Syndrome Due To A Point Mutation	Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Abnormal heart morphology...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Abnormal heart morphology...	ORPHA:363958
3Mc Syndrome 1	Ventricular septal defect, Atrial septal defect	OMIM:257920
Combined Immunodeficiency-Enteropathy Spectrum	Intrauterine growth retardation, Ventricular septal defect	ORPHA:436252
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Ventricular septal defect, Atrial septal defect	OMIM:263520
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal heart morphology, Aortic...	ORPHA:268261
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Intrauterine growth retardation, Ventricular septal hypertrophy, Ventricular septal defect	OMIM:608670
Mycophenolate Mofetil Embryopathy	Ventricular septal defect	ORPHA:268249
Holoprosencephaly 14	Double outlet right ventricle, Aortic valve atresia, Ventricular septal defect	OMIM:619895
Simpson-Golabi-Behmel Syndrome	Cardiomyopathy, Ventricular septal defect, Atrial septal defect, Death in infancy	ORPHA:373
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Ventricular hypertrophy, Ventricular septal defect, Mitral stenosis, Tricuspid stenosis, Aortic v...	OMIM:143095
Catel-Manzke Syndrome	Overriding aorta, Dextrocardia, Intrauterine growth retardation, Ventricular septal defect	OMIM:616145
Hydrolethalus Syndrome 1	Complete atrioventricular canal defect, Intrauterine growth retardation, Stillbirth, Ventricular ...	OMIM:236680
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Patent foramen ovale, Ventricular septal defect, Ebstein anomaly of the tricuspid valve, Left ven...	ORPHA:466791
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Ventricular septal defect	OMIM:619575
Renpenning Syndrome 1	Ventricular septal defect, Atrial septal defect, Situs inversus totalis, Tetralogy of Fallot, Dea...	OMIM:309500
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Partial anomalous pulmonary venous return, Intrauterine growth retardation, Atrial septal defect,...	OMIM:301044
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Ventricular septal defect, Atrial septal defect	ORPHA:163979
Hajdu-Cheney Syndrome	Mitral stenosis, Aortic valve stenosis, Ventricular septal defect	ORPHA:955
Smith-Lemli-Opitz Syndrome	Ventricular septal defect, Death in infancy, Atrial septal defect, Hypertrophic cardiomyopathy, I...	OMIM:270400
Biliary, Renal, Neurologic, And Skeletal Syndrome	Atrioventricular canal defect, Patent foramen ovale, Unbalanced atrioventricular canal defect, Ve...	OMIM:619534
Degcags Syndrome	Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Dysplastic pulmonary valve...	OMIM:619488
Feingold Syndrome 1	Tricuspid atresia, Ventricular septal defect, Tricuspid stenosis	OMIM:164280
Cardiospondylocarpofacial Syndrome	Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Dysplastic tricuspid valve...	OMIM:157800
Zttk Syndrome	Intrauterine growth retardation, Atrial septal defect, Ventricular septal defect	OMIM:617140
Rubinstein-Taybi Syndrome 1	Patent foramen ovale, Ventricular septal defect, Perimembranous ventricular septal defect, Mitral...	OMIM:180849
Cutis Laxa, Autosomal Dominant 1	Ventricular septal defect	OMIM:123700
Histiocytoid Cardiomyopathy	Cardiomegaly, Ventricular septal defect	ORPHA:137675
Chromosome 16P13.3 Duplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect	OMIM:613458
Okamoto Syndrome	Ventricular septal defect, Abnormal mitral valve morphology, Abnormal left ventricle morphology, ...	ORPHA:2729
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Ventricular septal defect	OMIM:619418
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Bicuspid aortic valve, Ventricular septal defect, Atrial septal defect	OMIM:271640
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Ventricular septal defect, Atrial septal defect, Miscarriage, Hypertrophic cardiomyopathy, Intrau...	ORPHA:96334
Alzahrani-Kuwahara Syndrome	Patent foramen ovale, Coronary sinus enlargement, Ventricular septal defect, Atrial septal defect	OMIM:619268
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bicuspid aortic valve, Intrauterine growth retardation, Ventricular septal defect	OMIM:619475
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Patent foramen ovale, Ventricular septal defect, Mitral valve prolapse, Atrial septal defect, Hyp...	ORPHA:363700
Keutel Syndrome	Pulmonic stenosis, Ventricular septal defect, Miscarriage	OMIM:245150
Esophageal Atresia	Tetralogy of Fallot, Ventricular septal defect	ORPHA:1199
Microphthalmia, Syndromic 2	Double outlet right ventricle, Ventricular septal defect, Mitral valve prolapse, Atrial septal de...	OMIM:300166
8Q24.3 Microdeletion Syndrome	Atrioventricular canal defect, Ventricular septal defect, Truncus arteriosus, Dysplastic aortic v...	ORPHA:508488
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Mitral valve prolapse, Abnormal right ventricle morphology, Ventricular septal defect	ORPHA:500095
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Patent foramen ovale, Abnormal heart morphology, Ventricular septal defect	ORPHA:444077
Thauvin-Robinet-Faivre Syndrome	Mitral valve prolapse, Ventricular septal defect	OMIM:617107
Costello Syndrome	Ventricular septal defect, Mitral valve prolapse, Atrial septal defect, Hypertrophic cardiomyopat...	OMIM:218040
Acrofacial Dysostosis 1, Nager Type	Tetralogy of Fallot, Ventricular septal defect	OMIM:154400
Microphthalmia, Syndromic 3	Ventricular septal defect	OMIM:206900
Hardikar Syndrome	Partial anomalous pulmonary venous return, Patent foramen ovale, Ventricular septal defect, Atria...	OMIM:301068
Distal 22Q11.2 Microduplication Syndrome	Ventricular septal defect, Tricuspid valve prolapse	ORPHA:261337
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect	ORPHA:3047
Liver Disease, Severe Congenital	Subvalvular aortic stenosis, Patent foramen ovale, Dilatation of the ventricular cavity, Ventricu...	OMIM:619991
Limb Body Wall Complex	Abnormal heart morphology, Ectopia cordis, Ventricular septal defect, Atrial septal defect	ORPHA:2369
Specc1L-Related Hypertelorism Syndrome	Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect	ORPHA:1519
Hajdu-Cheney Syndrome	Ventricular septal defect	OMIM:102500
Williams Syndrome	Ventricular septal defect, Abnormal cardiac septum morphology, Bicuspid aortic valve, Mitral valv...	ORPHA:904
Alagille Syndrome 1	Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect	OMIM:118450
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Ventricular septal defect	ORPHA:1071
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Dilatation of the ventricular cavity, Ventricular septal defect, Atrial septal defect	ORPHA:459070
Blackfan-Diamond Anemia	Abnormal heart morphology, Ventricular septal defect, Atrial septal defect	ORPHA:124
Eisenmenger Syndrome	Atrioventricular canal defect, Bacterial endocarditis, Aortopulmonary window, Ventricular septal ...	ORPHA:97214
Chromosome 1P36 Deletion Syndrome, Distal	Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Ebstein anomaly of the tr...	OMIM:607872
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Abnormal heart morphology...	ORPHA:353281
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Pulmonic stenosis, Atrial...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Pulmonic stenosis, Atrial...	ORPHA:353277
Yunis-Varon Syndrome	Ventricular septal defect, Atrial septal defect, Cardiomegaly, Tetralogy of Fallot, Cardiomyopathy	ORPHA:3472
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Abn...	ORPHA:438213
Cerebrocostomandibular Syndrome	Ventricular septal defect, Atrial septal defect	OMIM:117650
Chromosome 13Q14 Deletion Syndrome	Patent foramen ovale, Ventricular septal defect	OMIM:613884
Diaphragmatic Hernia 4, With Cardiovascular Defects	Aortopulmonary window, Ventricular septal defect	OMIM:620025
Omodysplasia 1	Ventricular septal defect, Atrial septal defect	OMIM:258315
Johanson-Blizzard Syndrome	Ventricular septal defect, Dilated cardiomyopathy, Atrial septal defect, Situs inversus totalis, ...	OMIM:243800
Early Infantile Epileptic Encephalopathy	Ventricular septal defect	ORPHA:1934
Noonan Syndrome 1	Hypertrophic cardiomyopathy, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect	OMIM:163950
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Subvalvular aortic stenosis, Double outlet right ventricle, Mitral atresia, Ventricular septal de...	OMIM:619503
Coffin-Siris Syndrome 1	Tetralogy of Fallot, Intrauterine growth retardation, Atrial septal defect, Ventricular septal de...	OMIM:135900
Craniotubular Dysplasia, Ikegawa Type	Ventricular septal defect	OMIM:619727
Wolf-Hirschhorn Syndrome	Intrauterine growth retardation, Atrial septal defect, Ventricular septal defect	OMIM:194190
Femoral-Facial Syndrome	Pulmonic stenosis, Truncus arteriosus, Ventricular septal defect	OMIM:134780
Diets-Jongmans Syndrome	Ventricular septal defect	OMIM:618846
Williams-Beuren Syndrome	Coronary artery stenosis, Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse...	OMIM:194050
Congenital Tracheal Stenosis	Hypoplastic left heart, Ventricular septal defect	ORPHA:141127
Congenital Disorder Of Glycosylation, Type Iiw	Tetralogy of Fallot, Ventricular septal defect	OMIM:619525
Osteoporosis-Pseudoglioma Syndrome	Ventricular septal defect	OMIM:259770
Cornelia De Lange Syndrome	Intrauterine growth retardation, Atrial septal defect, Ventricular septal defect	ORPHA:199
Vater/Vacterl Association	Tetralogy of Fallot, Transposition of the great arteries, Intrauterine growth retardation, Ventri...	OMIM:192350
Charge Syndrome	Double outlet right ventricle, Ventricular septal defect, Secundum atrial septal defect, Atrial s...	OMIM:214800
Simpson-Golabi-Behmel Syndrome, Type 1	Ventricular septal defect, Transposition of the great arteries, Atrial septal defect, Total anoma...	OMIM:312870
Viss Syndrome	Patent foramen ovale, Double outlet right ventricle, Coronary sinus enlargement, Ventricular sept...	OMIM:619472
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Intrauterine growth retardation, Atrial septal defect, Ventricular septal defect	OMIM:619522
Pallister-Hall Syndrome	Atrioventricular canal defect, Intrauterine growth retardation, Atrial septal defect, Ventricular...	ORPHA:672
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Ventricular septal defect	ORPHA:513456
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Ventricular septal defect	OMIM:616682
Roberts-Sc Phocomelia Syndrome	Atrial septal defect, Ventricular septal defect, Stillbirth, Severe intrauterine growth retardation	OMIM:268300
Peters-Plus Syndrome	Pulmonic stenosis, Intrauterine growth retardation, Atrial septal defect, Ventricular septal defect	OMIM:261540
Orofaciodigital Syndrome Xiv	Ventricular septal defect, Atrial septal defect	OMIM:615948
Penile Agenesis	Ventricular septal defect, Atrial septal defect	ORPHA:49
Proboscis Lateralis	Ventricular septal defect	ORPHA:141099
Mowat-Wilson Syndrome	Abnormal heart morphology, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect	OMIM:235730
Kabuki Syndrome 1	Ventricular septal defect, Atrial septal defect	OMIM:147920
Digeorge Syndrome	Tetralogy of Fallot, Truncus arteriosus, Ventricular septal defect	OMIM:188400
Orofaciodigital Syndrome Type 14	Ventricular septal defect	ORPHA:434179
Ulnar-Mammary Syndrome	Ventricular septal defect	OMIM:181450
Townes-Brocks Syndrome 1	Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect	OMIM:107480
Genitopatellar Syndrome	Ventricular septal defect, Atrial septal defect	OMIM:606170
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Ventricular septal defect, Bicuspid aortic valve, Abnormal pulmonary valve morphology, Abnormal h...	ORPHA:261552
Yunis-Varon Syndrome	Patent foramen ovale, Ventricular septal defect, Tetralogy of Fallot, Intrauterine growth retarda...	OMIM:216340
Sotos Syndrome	Abnormal heart morphology, Ventricular septal defect, Atrial septal defect	ORPHA:821
Pallister-Killian Syndrome	Ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopathy, Stillbirth, Aortic ...	OMIM:601803
Craniofacial Microsomia	Tetralogy of Fallot, Ventricular septal defect	OMIM:164210

Histopathology

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.

There is no histopathology data for Otud6b

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 Otud6b.

There are 3 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Otud6b^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Otud6b^{tm1a(EUCOMM)Wtsi}	PMC6459510
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features.	American journal of human genetics (March 2017)	Otud6b^{tm1b(EUCOMM)Wtsi}	PMC5384096

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MGI Allele	Allele Type	Produced
Otud6b^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Otud6b^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Otud6b^{tm35854(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Otud6b^{tm1b(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Otud6b^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

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Gene: Otud6b MGI:1919451

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Adult LacZ

Echo

X-ray

Embryo LacZ

X-ray

MicroCT E14.5-E15.5

MicroCT E18.5

Auditory Brain Stem Response

Legacy Phenotype Associated Images

Human diseases caused by Otud6b mutations

Histopathology

IMPC related publications

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Access Data Release 19.0 Data