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

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	0.0%
aorta	0.0%
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
olfactory lobe	0.0%
oral epithelium	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
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	0.0%
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
oral cavity	0.0%
skin	0.0%
tail	0.0%
tail somite group	0.0%

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 Skull Dorso Ventral Orientation

11 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

View images

Echo

M-Mode Images

32 Images

View images

Embryo LacZ

LacZ images wholemount

8 Images

View images

MicroCT E14.5-E15.5

Embryo reconstruction

4 Images

View images

Adult LacZ

LacZ Images Wholemount

19 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

11 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 (593 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		Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect	OMIM:617452
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome		Atrial septal defect, Intrauterine growth retardation, 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	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	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	Eosinophilia, Neutropenia	OMIM:257100
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Atrioventricular Septal Defect 5	Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart	OMIM:614474
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	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
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Hypoplastic left heart, Aortic valve stenosis, Atrioventricular canal ...	OMIM:615779
Cranioacrofacial Syndrome	Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Spinal Muscular Atrophy, Type I	Atrial septal defect, Ventricular septal defect, Death in childhood	OMIM:253300
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Heart Defects-Limb Shortening Syndrome	Death in infancy, Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morph...	ORPHA:1354
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Sonoda Syndrome	Ventricular septal defect	OMIM:270460
Tricuspid Atresia	Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At...	ORPHA:1209
Cardiomyopathy, Dilated, 2H	Neonatal death, Secundum atrial septal defect, Muscular ventricular septal defect	OMIM:620203
Atrial Septal Defect 2	Ventricular septal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Atrioventricula...	OMIM:607941
Peroxisome Biogenesis Disorder 8A (Zellweger)	Death in infancy, Ventricular septal defect	OMIM:614876
Immunodeficiency 60 And Autoimmunity	Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count	OMIM:618394
Megabladder, Congenital	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa...	OMIM:618719
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Ventricular Septal Defect 3	Atrial septal defect, Ventricular septal defect	OMIM:614432
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Microcephaly-Cardiomyopathy Syndrome	Intrauterine growth retardation, Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Ventricular septal defect, Death in childhood	OMIM:613759
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Mesoaxial Hexadactyly And Cardiac Malformation	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:249670
Congenital Heart Defects, Multiple Types, 2	Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul...	OMIM:614980
Fetal Minoxidil Syndrome	Ventricular septal defect	ORPHA:1918
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect	OMIM:617992
Microphthalmia, Syndromic 12	Neonatal death, Hypoplastic left atrium, Ventricular septal defect	OMIM:615524
Feingold Syndrome Type 2	Ventricular septal defect	ORPHA:391646
Coenzyme Q10 Deficiency, Primary, 7	Intrauterine growth retardation, Hypertrophic cardiomyopathy, Hypoplastic left heart, Ventricular...	OMIM:616276
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect	OMIM:235750
Adams-Oliver Syndrome 4	Atrial septal defect, Ventricular septal defect	OMIM:615297
Indomethacin Embryofetopathy	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:1909
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr...	OMIM:108900
Feingold Syndrome 2	Ventricular septal defect	OMIM:614326
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Death in infancy, Muscular ventricular septal defect, Di...	OMIM:619371
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect	OMIM:212090
Nemaline Myopathy 9	Ventricular septal defect	OMIM:615731
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Death in infancy, Ventricular septal defect	OMIM:613730
46,Xx Sex Reversal 5	Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect	OMIM:618901
Catel-Manzke Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:1388
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo...	OMIM:604169
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect	OMIM:608227
Mmep Syndrome	Ventricular septal defect	ORPHA:3434
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Hypertrophic cardiomyopathy, Ventricular septal defect	OMIM:616277
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,...	OMIM:613854
8P23.1 Duplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	ORPHA:251076
Fadd-Related Immunodeficiency	Ventricular septal defect	ORPHA:306550
16P13.11 Microduplication Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ...	ORPHA:261243
Polysyndactyly With Cardiac Malformation	Atrial septal defect, Stillbirth, Ventricular septal defect	OMIM:263630
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:614262
Intellectual Developmental Disorder, Autosomal Recessive 73	Ventricular septal defect	OMIM:619717
Xk Aprosencephaly Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:3469
Lambert Syndrome	Intrauterine growth retardation, Ventricular septal defect	ORPHA:1296
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Genitopalatocardiac Syndrome	Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries	OMIM:231060
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete...	OMIM:208530
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:83473
Bardet-Biedl Syndrome 19	Atrial septal defect, Ventricular septal defect, Hypoplastic left heart, Partial atrioventricular...	OMIM:615996
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:616898
14Q11.2 Microdeletion Syndrome	Ventricular septal defect	ORPHA:261120
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:617044
Fetal Trimethadione Syndrome	Ventricular septal defect, Transposition of the great arteries, Atrial septal defect, Intrauterin...	ORPHA:1913
Weill-Marchesani Syndrome	Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis	ORPHA:3449
Autosomal Dominant Coarctation Of Aorta	Hypoplastic left heart, Ventricular septal defect	ORPHA:1455
Intellectual Developmental Disorder, Autosomal Recessive 79	Ventricular septal defect	OMIM:620393
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos...	OMIM:220210
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Intrauterine growth retardation, Ventricular septal defect, Hypoplastic left heart	ORPHA:2772
Li-Campeau Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:619189
Hadziselimovic Syndrome	Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect	OMIM:612946
Hypotonia, Infantile, With Psychomotor Retardation	Ventricular septal defect	OMIM:616816
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast...	OMIM:617205
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Hypoplastic left heart, Ventricular septal defect	ORPHA:2476
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Truncus arteriosus, Ventricular septal defect	OMIM:601355
8Q12 Microduplication Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:228399
Global Developmental Delay With Or Without Impaired Intellectual Development	Atrial septal defect, Ventricular septal defect	OMIM:618330
Multifocal Atrial Tachycardia	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ...	ORPHA:3282
Grange Syndrome	Ventricular septal defect	ORPHA:79094
Aase-Smith Syndrome I	Death in infancy, Ventricular septal defect	OMIM:147800
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Meacham Syndrome	Death in infancy, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextroc...	OMIM:608978
Cardiofaciocutaneous Syndrome 3	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	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
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp...	ORPHA:860
Filippi Syndrome	Intrauterine growth retardation, Ventricular septal defect	OMIM:272440
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Intrauterine growth retardation, Truncus arteriosus, Ventricular septal defect	ORPHA:2516
Li-Ghorbani-Weisz-Hubshman Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:618974
Neurooculocardiogenitourinary Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly	OMIM:618652
Noonan Syndrome 12	Tetralogy of Fallot, Ventricular septal defect	OMIM:618624
Thiamine-Responsive Megaloblastic Anemia Syndrome	Atrial septal defect, Cardiomyopathy, Ventricular septal defect, Situs inversus totalis	OMIM:249270
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolapse, Atrial septal defect, ...	OMIM:612561
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Hypoplastic rig...	OMIM:618142
14Q24.1Q24.3 Microdeletion Syndrome	Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Abnormal heart morphology	ORPHA:401935
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Double outlet right ventricle...	OMIM:179613
Thiamine-Responsive Megaloblastic Anemia Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:49827
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Diamond-Blackfan Anemia 12	Ventricular septal defect	OMIM:615550
Delpire-Mcneill Syndrome	Ventricular septal defect	OMIM:619083
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Abnormal tricuspid valve morphology	ORPHA:3405
Joubert Syndrome 18	Intrauterine growth retardation, Ventricular septal defect	OMIM:614815
Trigonocephaly With Short Stature And Developmental Delay	Ventricular septal defect	OMIM:314320
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tetralogy of Fallot, Ventricular septal defect	ORPHA:1166
Congenital Rubella Syndrome	Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect	ORPHA:290
Tyshchenko Syndrome	Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Pulmonic stenosis	OMIM:615102
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Ventricular septal defect	ORPHA:3369
Cardiac Valvular Dysplasia 1	Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos...	OMIM:212093
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
Developmental And Epileptic Encephalopathy 66	Atrial septal defect, Ventricular septal defect, Dextrocardia	OMIM:618067
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Death in infancy, Ventricular septal defect, Death in childhood	OMIM:616901
Noonan Syndrome 8	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ...	OMIM:615355
3C Syndrome	Death in infancy, Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid...	ORPHA:7
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Ventricular septal defect	OMIM:610338
Atelis Syndrome 1	Atrial septal defect, Ventricular septal defect	OMIM:620184
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect	OMIM:214300
Methimazole Embryofetopathy	Intrauterine growth retardation, Ventricular septal defect	ORPHA:1923
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventricular septal defect	OMIM:602501
Roifman Syndrome	Noncompaction cardiomyopathy, Intrauterine growth retardation, Ventricular septal defect	OMIM:616651
Heterotaxy, Visceral, 12, Autosomal	Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven...	OMIM:619702
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Intrauterine growth retardation, Hypertrophic cardiomyopathy, Ventricular septal defect, Death in...	OMIM:612938
Pontocerebellar Hypoplasia, Type 17	Secundum atrial septal defect, Intrauterine growth retardation, Ventricular septal defect	OMIM:619909
Intellectual Developmental Disorder, Autosomal Dominant 47	Intrauterine growth retardation, Ventricular septal defect	OMIM:617635
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At...	ORPHA:261183
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect	ORPHA:75389
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Ventricular septal defect, Parachute mitral valve, Atrial septal defect, Double outlet right vent...	OMIM:618316
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ventricular septal defect	ORPHA:93267
Intellectual Developmental Disorder, Autosomal Dominant 48	Intrauterine growth retardation, Ventricular septal defect, Bicuspid aortic valve	OMIM:617751
Woods Syndrome	Ventricular septal defect	OMIM:615236
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Ventricular septal defect	OMIM:620210
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology	ORPHA:500159
X-Linked Lissencephaly With Abnormal Genitalia	Death in infancy, Ventricular septal defect	ORPHA:452
Congenital Gerbode Defect	Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu...	ORPHA:99095
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Ventricular septal defect, Dextrocardia	OMIM:616037
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Atrial septal defect, Ventricular septal defect	OMIM:613870
Jansen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve	OMIM:617450
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect	OMIM:126320
Microcephaly-Capillary Malformation Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy	OMIM:614261
Adams-Oliver Syndrome 6	Truncus arteriosus, Ventricular septal defect	OMIM:616589
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Ventricular septal defect	OMIM:607598
Congenital Alveolar Capillary Dysplasia	Bicuspid aortic valve, Ventricular septal defect, Pulmonary valve atresia, Aortic valve stenosis,...	ORPHA:210122
Chromosome 5Q12 Deletion Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:615668
Congenital Disorder Of Glycosylation, Type Iil	Atrial septal defect, Death in infancy, Ventricular septal defect, Intrauterine growth retardation	OMIM:614576
Timothy Syndrome	Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly	OMIM:601005
Holt-Oram Syndrome	Ventricular septal defect, Anomalous pulmonary venous return, Hypoplastic left heart, Atrial sept...	ORPHA:392
Microphthalmia, Syndromic 9	Atrial septal defect, Ventricular septal defect, Hypoplastic left atrium, Pulmonic stenosis, Neon...	OMIM:601186
Meckel Syndrome, Type 4	Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect	OMIM:611134
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Secundum atrial septal defect, Atrial septal defect, Perimembranous ventricular septal defect, Ve...	OMIM:600987
Desbuquois Syndrome	Ventricular septal defect	ORPHA:1425
Oculoauriculofrontonasal Syndrome	Ventricular septal defect	ORPHA:398156
Pyruvate Dehydrogenase E1-Alpha Deficiency	Intrauterine growth retardation, Ventricular septal defect	ORPHA:79243
Periventricular Nodular Heterotopia 7	Ventricular septal defect	OMIM:617201
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve	ORPHA:329224
Suleiman-El-Hattab Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:618950
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Death in infancy, Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Right ve...	OMIM:208085
Warsaw Breakage Syndrome	Intrauterine growth retardation, Tetralogy of Fallot, Ventricular septal defect	OMIM:613398
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology	OMIM:618494
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Ventricular septal defect, Partial anomalous pulmonary venous return, Atrial se...	OMIM:617478
Verheij Syndrome	Intrauterine growth retardation, Truncus arteriosus, Ventricular septal defect	OMIM:615583
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Death in infancy, Ventricular septal defect, Right ventricular hypertrophy	OMIM:613404
Burn-Mckeown Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:608572
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect	OMIM:617452
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Ventricular septal defect	ORPHA:2256
Noonan Syndrome 9	Ventricular septal defect, Pulmonic stenosis	OMIM:616559
Coffin-Siris Syndrome 7	Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve	OMIM:618027
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Atrial septal defect, Overriding aorta, Ventricular septal defect	OMIM:601927
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect	OMIM:609654
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology	ORPHA:369891
Transaldolase Deficiency	Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Patent foramen ...	OMIM:606003
Acrocardiofacial Syndrome	Death in infancy, Mitral stenosis, Ventricular septal defect, Atrial septal defect, Intrauterine ...	ORPHA:2008
Inverted Duplicated Chromosome 15 Syndrome	Tetralogy of Fallot, Ventricular septal defect	ORPHA:3306
Weiss-Kruszka Syndrome	Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi...	OMIM:618619
Serkal Syndrome	Ventricular septal defect, Pulmonic stenosis	ORPHA:139466
Emanuel Syndrome	Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Intrauter...	OMIM:609029
Isolated Klippel-Feil Syndrome	Ventricular septal defect	ORPHA:2345
Neurodevelopmental Disorder With Language Delay And Seizures	Ventricular septal defect	OMIM:619908
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, At...	ORPHA:477817
Fanconi Anemia, Complementation Group I	Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Patent foramen ...	OMIM:609053
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Intrauterine growth retardation, Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiome...	OMIM:616897
Rere-Related Neurodevelopmental Syndrome	Intrauterine growth retardation, Ventricular septal defect, Abnormal heart morphology	ORPHA:494344
Skraban-Deardorff Syndrome	Ventricular septal defect	OMIM:617616
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Intrauterine growth retardation, Overriding aorta, Ventricular septal defect	OMIM:617021
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va...	ORPHA:216694
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect	ORPHA:505237
Chromosome 1P36 Deletion Syndrome, Proximal	Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Partial...	OMIM:619343
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect	OMIM:618504
19P13.3 Microduplication Syndrome	Intrauterine growth retardation, Ventricular septal defect	ORPHA:447980
Trisomy 13	Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect	ORPHA:3378
22Q11.2 Duplication Syndrome	Ventricular septal defect, Tetralogy of Fallot, Hypoplastic left heart, Transposition of the grea...	ORPHA:1727
Cardiac Diverticulum	Bicuspid aortic valve, Mitral stenosis, Left ventricular hypertrophy, Ventricular septal defect, ...	ORPHA:1686
Scimitar Syndrome	Ventricular septal defect, Dextrocardia, Mitral atresia, Partial anomalous pulmonary venous retur...	ORPHA:185
Donnai-Barrow Syndrome	Ventricular septal defect	ORPHA:2143
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Ventricular septal defect	OMIM:601357
Aminopterin/Methotrexate Embryofetopathy	Situs inversus totalis, Intrauterine growth retardation, Tetralogy of Fallot, Ventricular septal ...	ORPHA:1908
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Pericardial effusion, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Ventricular s...	OMIM:618775
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype...	OMIM:615474
King-Denborough Syndrome	Ventricular septal defect	OMIM:619542
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary venous return, Anomalous pul...	OMIM:619657
Double Outlet Right Ventricle	Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos...	ORPHA:3426
Prune Belly Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect	ORPHA:2970
Brachydactyly, Type B1	Ventricular septal defect	OMIM:113000
Diamond-Blackfan Anemia 5	Ventricular septal defect	OMIM:612528
Heterotaxy, Visceral, 1, X-Linked	Right atrial isomerism, Mitral stenosis, Ventricular septal defect, Dextrocardia, Cardiomegaly, M...	OMIM:306955
Pontocerebellar Hypoplasia, Type 8	Ventricular septal defect, Patent foramen ovale	OMIM:614961
Braddock-Carey Syndrome 1	Aortic valve prolapse, Ventricular septal defect	OMIM:619980
Insulin-Like Growth Factor I, Resistance To	Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Patent foramen ...	OMIM:270450
Emanuel Syndrome	Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Intrauter...	ORPHA:96170
15Q14 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:261190
Filippi Syndrome	Intrauterine growth retardation, Ventricular septal defect	ORPHA:3255
Chromosome 6Pter-P24 Deletion Syndrome	Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale	OMIM:612582
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Death in infancy, Intrauterine growth retardation, Ventricular septal defect, Death in childhood	OMIM:243150
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:618870
Tatton-Brown-Rahman Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:615879
Fanconi Anemia, Complementation Group B	Death in infancy, Ventricular septal defect, Intrauterine growth retardation	OMIM:300514
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Ventricular septal defect, Abnormal heart morphology	ORPHA:254534
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Ventricular septal defect	OMIM:616730
Diamond-Blackfan Anemia 7	Secundum atrial septal defect, Intrauterine growth retardation, Tetralogy of Fallot, Ventricular ...	OMIM:612562
Craniofacial Dyssynostosis With Short Stature	Ventricular septal defect	OMIM:218350
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Atrial septal defect, Ventricular septal defect	OMIM:301039
19P13.12 Microdeletion Syndrome	Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect	ORPHA:254346
Laubry-Pezzi Syndrome	Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu...	ORPHA:99094
Transketolase Deficiency	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology	ORPHA:488618
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Ventricular septal defect	OMIM:615630
Diabetic Embryopathy	Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries	ORPHA:1926
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Atrial septal defect, Ventricular septal defect	OMIM:603387
Spondylo-Ocular Syndrome	Ventricular septal defect	ORPHA:85194
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Intrauterine growth retardation, Double outlet right ventricle, Ventricular septal defect, Pulmon...	OMIM:301056
Meacham Syndrome	Ventricular septal defect, Situs inversus totalis, Anomalous pulmonary venous return, Conotruncal...	ORPHA:3097
Heterotaxy, Visceral, 5, Autosomal	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary veno...	OMIM:270100
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ...	ORPHA:3427
Phaver Syndrome	Intrauterine growth retardation, Ventricular septal defect	ORPHA:2876
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ...	ORPHA:363705
Chromosome 18Q Deletion Syndrome	Absence of the pulmonary valve, Ventricular septal defect, Atrial septal defect, Intrauterine gro...	OMIM:601808
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Atrial septal defect, Ventricular septal defect	OMIM:619769
Keutel Syndrome	Ventricular septal defect	ORPHA:85202
Stankiewicz-Isidor Syndrome	Truncus arteriosus, Ventricular septal defect	OMIM:617516
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:220500
Noonan Syndrome 4	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:610733
Heart Defects, Congenital, And Other Congenital Anomalies	Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Total absence of t...	OMIM:600001
Seckel Syndrome 9	Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect	OMIM:616777
Pelger-Huet Anomaly	Ventricular septal defect	OMIM:169400
Myopathy With Extrapyramidal Signs	Ventricular septal defect	OMIM:615673
Short Stature-Micrognathia Syndrome	Intrauterine growth retardation, Ventricular septal defect	OMIM:617164
Kury-Isidor Syndrome	Ventricular septal defect	OMIM:619762
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Ventricular septal defect, Dextrotransposition of the great arteries	OMIM:619995
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect	OMIM:617360
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Atrial septal defect, Do...	ORPHA:371428
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect...	ORPHA:457279
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Atrial septal defect, Ventricular septal defect	OMIM:617061
Codas Syndrome	Ventricular septal defect	ORPHA:1458
Cooper-Jabs Syndrome	Ventricular septal defect	ORPHA:1488
3P25.3 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	ORPHA:435638
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Ventricular septal defect, Abnormal heart morphology	ORPHA:404440
Costello Syndrome	Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis, Mitral valve prolapse	ORPHA:3071
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Mosaic Variegated Aneuploidy Syndrome 2	Ventricular septal defect, Severe intrauterine growth retardation, Subvalvular aortic stenosis, A...	OMIM:614114
Severe X-Linked Intellectual Disability, Gustavson Type	Ventricular septal defect	ORPHA:3078
19Q13.11 Microdeletion Syndrome	Intrauterine growth retardation, Ventricular septal defect	ORPHA:217346
Lethal Congenital Contracture Syndrome 10	Intrauterine growth retardation, Overriding aorta, Ventricular septal defect, Cardiomegaly	OMIM:617022
Lissencephaly 9 With Complex Brainstem Malformation	Ventricular septal defect	OMIM:618325
Kapur-Toriello Syndrome	Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect	OMIM:244300
Carpenter Syndrome 1	Ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis, Atrial septal ...	OMIM:201000
Kagami-Ogata Syndrome	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:608149
Hand-Foot-Genital Syndrome	Ventricular septal defect, Miscarriage	ORPHA:2438
Maternal Phenylketonuria	Ventricular septal defect, Abnormal heart morphology, Hypoplastic left heart, Intrauterine growth...	ORPHA:2209
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Ventricular septal defect	OMIM:618348
Radio-Tartaglia Syndrome	Ventricular septal defect	OMIM:619312
Beaulieu-Boycott-Innes Syndrome	Ventricular septal defect	OMIM:613680
Thakker-Donnai Syndrome	Intrauterine growth retardation, Tetralogy of Fallot, Ventricular septal defect, Transposition of...	ORPHA:1780
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Ventricular septal defect	OMIM:617895
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, Atrial septal defect, Pa...	ORPHA:26793
Chromosome 15Q25 Deletion Syndrome	Ventricular septal defect, Dextrocardia, Coronary artery fistula, Abnormal cardiac septum morphol...	OMIM:614294
Yuan-Harel-Lupski Syndrome	Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve	OMIM:616652
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Intrauterine growth retardation, Ventricular septal defect, Patent foramen ovale	OMIM:620113
Contractural Arachnodactyly, Congenital	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse	OMIM:121050
Char Syndrome	Ventricular septal defect	ORPHA:46627
Orotic Aciduria	Atrial septal defect, Ventricular septal defect	OMIM:258900
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Ventricular septal defect	OMIM:620073
Noonan Syndrome 10	Mitral stenosis, Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Atrial sept...	OMIM:616564
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Intrauterine growth retardation, Ventricular septal defect	ORPHA:166035
Kapur-Toriello Syndrome	Tetralogy of Fallot, Ventricular septal defect	ORPHA:2328
Pseudotrisomy 13 Syndrome	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Atrial septal de...	OMIM:264480
Mosaic Trisomy 9	Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Endocardial fibroelasto...	ORPHA:99776
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Ventricular septal defect	ORPHA:369929
Zellweger Syndrome	Death in infancy, Ventricular septal defect	ORPHA:912
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:619123
Cat Eye Syndrome	Ventricular septal defect, Hypoplastic left heart, Total anomalous pulmonary venous return, Pulmo...	OMIM:115470
Alagille Syndrome	Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect	ORPHA:52
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:457193
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Neonatal death, Atrial septal defect, Ventricular septal defect, Coronary artery fistula	OMIM:620024
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:2519
Congenital Heart Defects And Skeletal Malformations Syndrome	Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect	OMIM:617602
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect	OMIM:300998
Sotos Syndrome	Atrial septal defect, Muscular ventricular septal defect, Ventricular septal defect	OMIM:117550
Noonan Syndrome 2	Mitral stenosis, Ventricular septal defect, Cardiomyopathy, Hypertrophic cardiomyopathy, Pulmonic...	OMIM:605275
Aortic Arch Interruption	Bicuspid aortic valve, Ventricular septal defect, Aortic valve atresia, Double outlet right ventr...	ORPHA:2299
Chromosome 9P Deletion Syndrome	Atrial septal defect, Perimembranous ventricular septal defect, Ventricular septal defect	OMIM:158170
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Sifrim-Hitz-Weiss Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect	OMIM:617159
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Ventricular septal defect, Dysplastic pulmonary valve	OMIM:619103
Fanconi Anemia, Complementation Group N	Ventricular septal defect	OMIM:610832
Teebi Hypertelorism Syndrome 1	Atrial septal defect, Ventricular septal defect	OMIM:145420
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Ventricular septal defect	ORPHA:1770
Den Hoed-De Boer-Voisin Syndrome	Intrauterine growth retardation, Ventricular septal defect, Death in adolescence	OMIM:619229
Gm1 Gangliosidosis	Cardiomyopathy, Ventricular septal defect, Abnormal heart morphology	ORPHA:354
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atrial septal defect, Ventricular septal defect	OMIM:610978
Heart And Brain Malformation Syndrome	Ventricular septal defect	OMIM:616920
Encephalocraniocutaneous Lipomatosis	Atrial septal defect, Ventricular septal defect, Subvalvular aortic stenosis	OMIM:613001
Dysosteosclerosis	Ventricular septal defect	ORPHA:1782
Bohring-Opitz Syndrome	Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect	OMIM:605039
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:616449
Koolen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Pulmonic stenosis, Atrial septal defect, Intrau...	OMIM:610443
Pentalogy Of Cantrell	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Abnormal pericardium morpho...	ORPHA:1335
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Atrial septal defect...	ORPHA:453499
Ogden Syndrome	Ventricular septal defect	ORPHA:276432
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Death in infancy, Ventricular septal defect	OMIM:235255
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Intrauterine growth retardation, Ventricular septal defect	OMIM:611812
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Congenital defect ...	ORPHA:2255
Mandibulofacial Dysostosis, Guion-Almeida Type	Atrial septal defect, Ventricular septal defect	OMIM:610536
Ellis Van Creveld Syndrome	Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,...	ORPHA:289
Cardiac-Urogenital Syndrome	Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Peri...	OMIM:618280
Trisomy 1Q	Ventricular septal defect	ORPHA:261344
Short-Rib Thoracic Dysplasia 12	Neonatal death, Intrauterine growth retardation, Ventricular septal defect, Patent foramen ovale	OMIM:269860
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Atrial septal defect, Ventricular septal defect	OMIM:309520
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Ventricular septal defect	ORPHA:52055
Joubert Syndrome 14	Ventricular septal defect	OMIM:614424
Peroxisome Biogenesis Disorder 5A (Zellweger)	Death in infancy, Ventricular septal defect, Death in adolescence, Atrial septal defect, Intraute...	OMIM:614866
Noonan Syndrome 3	Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Tricuspid valve prolapse, At...	OMIM:609942
Cerebrocostomandibular Syndrome	Death in infancy, Ventricular septal defect, Intrauterine growth retardation	ORPHA:1393
Distal Duplication 5Q	Ventricular septal defect, Dextrocardia	ORPHA:96097
Chromosome 1Q41-Q42 Deletion Syndrome	Ventricular septal defect	OMIM:612530
Trichothiodystrophy 4, Nonphotosensitive	Ventricular septal defect	OMIM:234050
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve, P...	OMIM:265380
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Ventricular septal defect	ORPHA:77298
Distal Deletion 19P	Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse	ORPHA:96129
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo...	ORPHA:3384
Ventriculomegaly With Cystic Kidney Disease	Ventricular septal defect	OMIM:219730
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Ventricular septal defect	OMIM:106260
Tetraamelia Syndrome 2	Ventricular septal defect	OMIM:618021
Ritscher-Schinzel Syndrome 2	Atrial septal defect, Ventricular septal defect	OMIM:300963
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Pulmonic stenosis	OMIM:610759
Cohen Syndrome	Intrauterine growth retardation, Ventricular septal defect, Mitral valve prolapse	ORPHA:193
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Atrial septal defect, Pericardial effusion, Pericardial lymphangiectasia, Ventricular septal defect	OMIM:235510
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Tetralogy of Fallot, Ventricular septal defect, Death in childhood	OMIM:600460
Brain-Lung-Thyroid Syndrome	Atrial septal defect, Ventricular septal defect, Abnormal cardiac septum morphology, Patent foram...	ORPHA:209905
Kleefstra Syndrome	Ventricular septal defect, Tetralogy of Fallot, Bicuspid aortic valve	ORPHA:261494
16Q24.3 Microdeletion Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:261250
Down Syndrome	Ventricular septal defect, Complete atrioventricular canal defect, Partial anomalous pulmonary ve...	OMIM:190685
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou...	OMIM:615067
Recombinant 8 Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect	ORPHA:96167
Leigh Syndrome	Intrauterine growth retardation, Hypertrophic cardiomyopathy, Ventricular septal defect	ORPHA:506
Peroxisome Biogenesis Disorder 1A (Zellweger)	Ventricular septal defect, Death in childhood	OMIM:214100
16P13.11 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:261236
Donnai-Barrow Syndrome	Ventricular septal defect	OMIM:222448
Congenital Disorder Of Glycosylation, Type It	Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly	OMIM:614921
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Ventricular septal defect	OMIM:300472
Lateral Meningocele Syndrome	Ventricular septal defect, Bicuspid aortic valve	OMIM:130720
Holt-Oram Syndrome	Secundum atrial septal defect, Ventricular septal defect, Hypoplastic left heart	OMIM:142900
Chops Syndrome	Ventricular septal defect, Patent foramen ovale, Anomalous pulmonary venous return	OMIM:616368
Pallister-Hall Syndrome	Neonatal death, Intrauterine growth retardation, Ventricular septal defect	OMIM:146510
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Ventricular septal defect	ORPHA:251028
Lateral Meningocele Syndrome	Ventricular septal defect	ORPHA:2789
Syndromic Diarrhea	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Atrial septal defect...	ORPHA:84064
Rabson-Mendenhall Syndrome	Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Cardiomyopathy	ORPHA:769
Distal 22Q11.2 Microdeletion Syndrome	Atrial septal defect, Intrauterine growth retardation, Truncus arteriosus, Ventricular septal defect	ORPHA:261330
Congenital Disorder Of Glycosylation, Type Iia	Ventricular septal defect	OMIM:212066
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Ventricular septal defect, Aortopulmonary window, Hypoplastic left heart, Transposition of the gr...	ORPHA:99050
Phelan-Mcdermid Syndrome	Ventricular septal defect	OMIM:606232
C Syndrome	Ventricular septal defect	OMIM:211750
Frank-Ter Haar Syndrome	Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Atrial septal de...	OMIM:249420
X Small Rings	Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve	ORPHA:96201
Weill-Marchesani Syndrome 1	Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis	OMIM:277600
Brachytelephalangic Chondrodysplasia Punctata	Atrial septal defect, Ventricular septal defect	ORPHA:79345
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Perimembranous ventricular septal defect, Ventricular septal defect	OMIM:301040
Coffin-Siris Syndrome 4	Ventricular septal defect, Mitral atresia, Pulmonic stenosis, Atrial septal defect, Intrauterine ...	OMIM:614609
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Intrauterine growth retardation, Ventricular septal defect	OMIM:614653
Mosaic Trisomy 16	Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Abnormal heart ...	ORPHA:1708
Loeys-Dietz Syndrome 5	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:615582
3Q29 Microduplication Syndrome	Ventricular septal defect	ORPHA:251038
Van Esch-O'Driscoll Syndrome	Atrial septal defect, Intrauterine growth retardation, Pulmonary valve atresia, Ventricular septa...	OMIM:301030
Mckusick-Kaufman Syndrome	Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Hypoplastic left heart	ORPHA:2473
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Pulmonic stenosis	OMIM:617506
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:464738
Autosomal Recessive Robinow Syndrome	Death in infancy, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal tricus...	ORPHA:1507
Intellectual Developmental Disorder, Autosomal Dominant 53	Ventricular septal defect	OMIM:617798
Craniofacioskeletal Syndrome	Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect	OMIM:300712
Chromosome 14Q11-Q22 Deletion Syndrome	Ventricular septal defect, Patent foramen ovale	OMIM:613457
Alg9-Cdg	Ventricular septal defect, Pericardial effusion, Abnormal heart morphology, Right ventricular dil...	ORPHA:79328
Trisomy 18	Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect	ORPHA:3380
Trichothiodystrophy	Intrauterine growth retardation, Ventricular septal defect, Cardiomyopathy	ORPHA:33364
Cerebellofaciodental Syndrome	Ventricular septal defect, Mitral valve prolapse	OMIM:616202
De Barsy Syndrome	Intrauterine growth retardation, Ventricular septal defect	ORPHA:2962
Trichohepatoenteric Syndrome 1	Intrauterine growth retardation, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:222470
Orofaciodigital Syndrome V	Tetralogy of Fallot, Ventricular septal defect	OMIM:174300
Histiocytosis-Lymphadenopathy Plus Syndrome	Ventricular septal defect, Cardiomegaly, Mitral valve prolapse, Pulmonic stenosis, Atrial septal ...	OMIM:602782
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Perimembranous ventricular ...	ORPHA:508498
Mosaic Trisomy 20	Abnormal mitral valve morphology, Intrauterine growth retardation, Dysplastic tricuspid valve, Ve...	ORPHA:1724
Adams-Oliver Syndrome 1	Bicuspid aortic valve, Ventricular septal defect, Hypoplastic left heart, Pulmonic stenosis, Atri...	OMIM:100300
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Ventricular septal defect	OMIM:178110
Combined Oxidative Phosphorylation Deficiency 15	Ventricular septal defect, Ventricular septal hypertrophy	OMIM:614947
Mosaic Trisomy 1	Ventricular septal defect	ORPHA:1692
Jacobsen Syndrome	Death in infancy, Ventricular septal defect, Hypoplastic left heart, Intrauterine growth retardat...	ORPHA:2308
Kaufman Oculocerebrofacial Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:244450
Codas Syndrome	Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect	OMIM:600373
Duane-Radial Ray Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:607323
Mgat2-Cdg	Ventricular septal defect, Abnormal heart morphology	ORPHA:79329
X-Linked Intellectual Disability, Nascimento Type	Ventricular septal defect, Double outlet right ventricle, Mitral stenosis, Tetralogy of Fallot, P...	ORPHA:163956
Marshall-Smith Syndrome	Atrial septal defect, Dysplastic aortic valve, Ventricular septal defect, Death in childhood	OMIM:602535
Fanconi Anemia, Complementation Group C	Intrauterine growth retardation, Ventricular septal defect	OMIM:227645
2Q31.1 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:251014
Jacobsen Syndrome	Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect	OMIM:147791
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Ventricular septal defect, Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale	OMIM:618748
Tbck-Related Intellectual Disability Syndrome	Ventricular septal defect, Pulmonic stenosis	ORPHA:488632
Marden-Walker Syndrome	Ventricular septal defect, Dextrocardia, Situs inversus totalis, Abnormal anatomic location of th...	ORPHA:2461
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Ventricular septal defect	OMIM:250410
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Ventricular septal defect	OMIM:615503
Coffin-Siris Syndrome	Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Intrauterine growth r...	ORPHA:1465
Robinow Syndrome, Autosomal Dominant 3	Patent foramen ovale, Ventricular septal defect, Hypoplastic right heart	OMIM:616894
Ogden Syndrome	Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum...	OMIM:300855
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Ventricular septal defect	ORPHA:1655
Diamond-Blackfan Anemia 10	Ventricular septal defect	OMIM:613309
7Q11.23 Microduplication Syndrome	Atrial septal defect, Aortic valve stenosis, Ventricular septal defect	ORPHA:96121
Opitz Gbbb Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology	ORPHA:2745
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:607721
Oculodentodigital Dysplasia	Ventricular septal defect	ORPHA:2710
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Intrauterine growth retardation, Aortic valve stenosis, Ventricular septal defect	ORPHA:464311
Developmental Delay With Or Without Dysmorphic Facies And Autism	Ventricular septal defect, Patent foramen ovale	OMIM:618454
Focal Dermal Hypoplasia	Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:2092
Lymphedema-Distichiasis Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:153400
Teebi-Shaltout Syndrome	Aortic valve stenosis, Ventricular septal defect	OMIM:272950
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Death in infancy, Ventricular septal defect, Muscular ventricular septal defect, Stillbirth, Deat...	OMIM:210710
Linear Skin Defects With Multiple Congenital Anomalies 1	Atrial septal defect, Overriding aorta, Ventricular septal defect, Histiocytoid cardiomyopathy	OMIM:309801
Thrombocytopenia-Absent Radius Syndrome	Death in infancy, Ventricular septal defect, Atrial septal defect, Atrioventricular canal defect,...	OMIM:274000
Trichohepatoneurodevelopmental Syndrome	Ventricular septal defect	OMIM:618268
Opitz Gbbb Syndrome	Ventricular septal defect	OMIM:300000
Larsen Syndrome	Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect	OMIM:150250
Dyrk1A-Related Intellectual Disability Syndrome	Intrauterine growth retardation, Aortic valve stenosis, Ventricular septal defect	ORPHA:464306
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent...	OMIM:300967
Meier-Gorlin Syndrome 7	Atrial septal defect, Complete atrioventricular canal defect, Ventricular septal defect	OMIM:617063
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Ventricular septal defect	OMIM:619306
Cornelia De Lange Syndrome 1	Intrauterine growth retardation, Ventricular septal defect	OMIM:122470
Paternal Uniparental Disomy Of Chromosome 6	Intrauterine growth retardation, Ventricular septal defect, Cardiomegaly	ORPHA:96191
Renal Agenesis	Ventricular septal defect	ORPHA:411709
Cerebellar-Facial-Dental Syndrome	Ventricular septal defect, Mitral valve prolapse	ORPHA:444072
Neu-Laxova Syndrome 1	Ventricular septal defect, Stillbirth, Transposition of the great arteries, Neonatal death, Intra...	OMIM:256520
Apert Syndrome	Overriding aorta, Ventricular septal defect	OMIM:101200
Goldberg-Shprintzen Syndrome	Ventricular septal defect	OMIM:609460
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Ventricular septal defect, Transposition of the great arteries, Subvalvular aortic stenosis, Doub...	OMIM:280000
Robinow Syndrome	Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, Atrial septal defect, Pu...	ORPHA:97360
Velocardiofacial Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:192430
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Intrauterine growth retardation, Ventricular septal defect, Patent foramen ovale	OMIM:616975
Myhre Syndrome	Ventricular septal defect, Pericardial effusion, Atrial septal defect, Intrauterine growth retard...	OMIM:139210
Holoprosencephaly 13, X-Linked	Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Patent foramen ...	OMIM:301043
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology	ORPHA:453504
Weill-Marchesani Syndrome 2	Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis	OMIM:608328
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology	ORPHA:352665
22Q11.2 Deletion Syndrome	Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal aortic valve morphology,...	ORPHA:567
Holoprosencephaly	Tetralogy of Fallot, Ventricular septal defect, Abnormal pulmonary valve morphology	ORPHA:2162
Chime Syndrome	Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre...	ORPHA:3474
Fryns Syndrome	Atrial septal defect, Stillbirth, Ventricular septal defect	OMIM:229850
Arboleda-Tham Syndrome	Ventricular septal defect, Secundum atrial septal defect, Pulmonic stenosis, Atrial septal defect...	OMIM:616268
Ulnar-Mammary Syndrome	Ventricular septal defect	ORPHA:3138
Koolen-De Vries Syndrome Due To A Point Mutation	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Cardiomyopathy, Pulm...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Cardiomyopathy, Pulm...	ORPHA:363958
Osteopathia Striata With Cranial Sclerosis	Atrial septal defect, Ventricular septal defect	OMIM:300373
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Su...	ORPHA:99125
Smith-Lemli-Opitz Syndrome	Atrial septal defect, Intrauterine growth retardation, Atrioventricular canal defect, Ventricular...	ORPHA:818
Phace Association	Ventricular septal defect	OMIM:606519
3Mc Syndrome 1	Atrial septal defect, Ventricular septal defect	OMIM:257920
Combined Immunodeficiency-Enteropathy Spectrum	Intrauterine growth retardation, Ventricular septal defect	ORPHA:436252
Mycophenolate Mofetil Embryopathy	Ventricular septal defect	ORPHA:268249
Hydrolethalus Syndrome 1	Intrauterine growth retardation, Complete atrioventricular canal defect, Stillbirth, Ventricular ...	OMIM:236680
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal heart morphology, Intrau...	ORPHA:268261
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Atrial septal defect, Ventricular septal defect	OMIM:263520
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Ventricular septal defect, Abnormal left ventricle morphology, Ebstein anomaly of the tricuspid v...	ORPHA:466791
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Intrauterine growth retardation, Ventricular septal defect, Ventricular septal hypertrophy	OMIM:608670
Holoprosencephaly 14	Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia	OMIM:619895
Renpenning Syndrome 1	Ventricular septal defect, Situs inversus totalis, Death in childhood, Atrial septal defect, Tetr...	OMIM:309500
Simpson-Golabi-Behmel Syndrome	Atrial septal defect, Death in infancy, Ventricular septal defect, Cardiomyopathy	ORPHA:373
Catel-Manzke Syndrome	Intrauterine growth retardation, Overriding aorta, Ventricular septal defect, Dextrocardia	OMIM:616145
Diamond-Blackfan Anemia 1	Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Tricuspid stenosis	OMIM:105650
Hajdu-Cheney Syndrome	Ventricular septal defect, Aortic valve stenosis, Mitral stenosis	ORPHA:955
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:163979
Smith-Lemli-Opitz Syndrome	Death in infancy, Ventricular septal defect, Atrial septal defect, Intrauterine growth retardatio...	OMIM:270400
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Ventricular septal defect	OMIM:619575
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Atrial septal defect, Intrauterine growth retardation, Partial anomalous pulmonary venous return,...	OMIM:301044
Degcags Syndrome	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Intrauterine growth retardati...	OMIM:619488
8Q24.3 Microdeletion Syndrome	Ventricular septal defect, Complete atrioventricular canal defect, Abnormal heart morphology, Int...	ORPHA:508488
Cardiospondylocarpofacial Syndrome	Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Atrial...	OMIM:157800
Zttk Syndrome	Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect	OMIM:617140
Rubinstein-Taybi Syndrome 1	Ventricular septal defect, Mitral valve prolapse, Perimembranous ventricular septal defect, Hypop...	OMIM:180849
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Ventricular hypertrophy, Ventricular septal defect, Mitral stenosis, Tricuspid stenosis, Pulmonic...	OMIM:143095
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve	OMIM:271640
Cutis Laxa, Autosomal Dominant 1	Ventricular septal defect	OMIM:123700
Histiocytoid Cardiomyopathy	Ventricular septal defect, Cardiomegaly	ORPHA:137675
Okamoto Syndrome	Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial septal defect, Abnor...	ORPHA:2729
Biliary, Renal, Neurologic, And Skeletal Syndrome	Cor triatriatum, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Secundum atrial...	OMIM:619534
Chromosome 16P13.3 Duplication Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect	OMIM:613458
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Ventricular septal defect	OMIM:619418
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Intrauterine growth retardation, Ventricular septal defect, Bicuspid aortic valve	OMIM:619475
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Miscarriage, Ventricular septal defect, Atrial septal defect, Intrauterine growth retardation, Hy...	ORPHA:96334
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Pulmonic stenosis, A...	ORPHA:363700
Alzahrani-Kuwahara Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Coronary sinus enlargement	OMIM:619268
Esophageal Atresia	Tetralogy of Fallot, Ventricular septal defect	ORPHA:1199
Feingold Syndrome 1	Ventricular septal defect, Tricuspid atresia, Tricuspid stenosis	OMIM:164280
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology	ORPHA:444077
Keutel Syndrome	Ventricular septal defect, Miscarriage, Pulmonic stenosis	OMIM:245150
Microphthalmia, Syndromic 2	Ventricular septal defect, Dextrocardia, Double outlet right ventricle, Mitral valve prolapse, Pu...	OMIM:300166
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Abnormal right ventricle morphology, Ventricular septal defect, Mitral valve prolapse	ORPHA:500095
Acrofacial Dysostosis 1, Nager Type	Tetralogy of Fallot, Ventricular septal defect	OMIM:154400
Thauvin-Robinet-Faivre Syndrome	Ventricular septal defect, Mitral valve prolapse	OMIM:617107
Costello Syndrome	Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Atrial septal defect, Hypert...	OMIM:218040
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, A...	ORPHA:353281
Microphthalmia, Syndromic 3	Ventricular septal defect	OMIM:206900
Liver Disease, Severe Congenital	Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Dilatation of the ventricular c...	OMIM:619991
Hajdu-Cheney Syndrome	Ventricular septal defect	OMIM:102500
Hardikar Syndrome	Atrial septal defect, Ventricular septal defect, Partial anomalous pulmonary venous return, Paten...	OMIM:301068
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect	ORPHA:3047
Diamond-Blackfan Anemia	Atrial septal defect, Ventricular septal defect, Abnormal heart morphology	ORPHA:124
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, A...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, A...	ORPHA:353277
Limb Body Wall Complex	Atrial septal defect, Ectopia cordis, Ventricular septal defect, Abnormal heart morphology	ORPHA:2369
Specc1L-Related Hypertelorism Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect	ORPHA:1519
Distal 22Q11.2 Microduplication Syndrome	Ventricular septal defect, Tricuspid valve prolapse	ORPHA:261337
Alagille Syndrome 1	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect	OMIM:118450
Williams Syndrome	Abnormal endocardium morphology, Death in early adulthood, Overriding aorta, Bicuspid aortic valv...	ORPHA:904
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Ventricular septal defect	ORPHA:1071
Eisenmenger Syndrome	Ventricular septal defect, Aortopulmonary window, Abnormal heart morphology, Bacterial endocardit...	ORPHA:97214
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyo...	OMIM:607872
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Atrial septal defect, Dilatation of the ventricular cavity, Ventricular septal defect	ORPHA:459070
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, A...	ORPHA:438213
Yunis-Varon Syndrome	Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Atrial septal defect, Tetralogy of Fallot	ORPHA:3472
Chromosome 13Q14 Deletion Syndrome	Ventricular septal defect, Patent foramen ovale	OMIM:613884
Cerebrocostomandibular Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:117650
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Ventricular septal defect, Mitral atresia, Muscular ventricular septal defect, Hypoplastic left h...	OMIM:619503
Diaphragmatic Hernia 4, With Cardiovascular Defects	Ventricular septal defect, Aortopulmonary window	OMIM:620025
Omodysplasia 1	Atrial septal defect, Ventricular septal defect	OMIM:258315
Early Infantile Epileptic Encephalopathy	Ventricular septal defect	ORPHA:1934
Vater/Vacterl Association	Intrauterine growth retardation, Tetralogy of Fallot, Ventricular septal defect, Transposition of...	OMIM:192350
Coffin-Siris Syndrome 1	Atrial septal defect, Intrauterine growth retardation, Tetralogy of Fallot, Ventricular septal de...	OMIM:135900
Noonan Syndrome 1	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:163950
Craniotubular Dysplasia, Ikegawa Type	Ventricular septal defect	OMIM:619727
Diets-Jongmans Syndrome	Ventricular septal defect	OMIM:618846
Femoral-Facial Syndrome	Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis	OMIM:134780
Wolf-Hirschhorn Syndrome	Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect	OMIM:194190
Williams-Beuren Syndrome	Bicuspid aortic valve, Ventricular septal defect, Mitral valve prolapse, Myxomatous mitral valve ...	OMIM:194050
Congenital Tracheal Stenosis	Ventricular septal defect, Hypoplastic left heart	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	Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect	ORPHA:199
Charge Syndrome	Overriding aorta, Ventricular septal defect, Secundum atrial septal defect, Dysplastic tricuspid ...	OMIM:214800
Simpson-Golabi-Behmel Syndrome, Type 1	Ventricular septal defect, Cardiomyopathy, Total anomalous pulmonary venous return, Transposition...	OMIM:312870
Viss Syndrome	Ventricular septal defect, Coronary sinus enlargement, Mitral valve prolapse, Right ventricular d...	OMIM:619472
Johanson-Blizzard Syndrome	Ventricular septal defect, Situs inversus totalis, Dilated cardiomyopathy, Severe intrauterine gr...	OMIM:243800
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Ventricular septal defect	ORPHA:513456
Pallister-Hall Syndrome	Atrial septal defect, Intrauterine growth retardation, Atrioventricular canal defect, Ventricular...	ORPHA:672
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect	OMIM:619522
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Ventricular septal defect	OMIM:616682
Roberts-Sc Phocomelia Syndrome	Atrial septal defect, Stillbirth, Ventricular septal defect, Severe intrauterine growth retardation	OMIM:268300
Peters-Plus Syndrome	Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Pulmonic stenosis	OMIM:261540
Orofaciodigital Syndrome Xiv	Atrial septal defect, Ventricular septal defect	OMIM:615948
Mowat-Wilson Syndrome	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Abnormal heart morphology	OMIM:235730
Penile Agenesis	Atrial septal defect, Ventricular septal defect	ORPHA:49
Proboscis Lateralis	Ventricular septal defect	ORPHA:141099
Kabuki Syndrome 1	Atrial septal defect, Ventricular septal defect	OMIM:147920
Digeorge Syndrome	Truncus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:188400
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Ventricular septal defect	OMIM:620330
Orofaciodigital Syndrome Type 14	Ventricular septal defect	ORPHA:434179
Ulnar-Mammary Syndrome	Ventricular septal defect	OMIM:181450
Townes-Brocks Syndrome 1	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect	OMIM:107480
Genitopatellar Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:606170
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal h...	ORPHA:261552
Yunis-Varon Syndrome	Ventricular septal defect, Cardiomyopathy, Intrauterine growth retardation, Tetralogy of Fallot, ...	OMIM:216340
Sotos Syndrome	Atrial septal defect, Ventricular septal defect, Abnormal heart morphology	ORPHA:821
Pallister-Killian Syndrome	Ventricular septal defect, Stillbirth, Aortic valve stenosis, Atrial septal defect, Hypertrophic ...	OMIM:601803
Craniofacial Microsomia 1	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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Otud6b MGI:1919451

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Echo

Embryo LacZ

MicroCT E14.5-E15.5

Adult LacZ

X-ray

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 20.1 Data