Gene Summary

Name:
OTU domain containing 6B
Synonyms:
2600013N14Rik

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Otud6btm1b(EUCOMM)Wtsi HET Early adult 1.71×10-19
preweaning lethality, incomplete penetrance Otud6btm1b(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 0.69% (4 of 577)
aorta 0.17% (1 of 582)
bone 0.0%
brain 0.86% (5 of 583)
brainstem 0.35% (2 of 578)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 581)
cerebellum 0.52% (3 of 582)
cerebral cortex 0.34% (2 of 581)
esophagus 1.73% (7 of 404)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 581)
hippocampus 0.34% (2 of 585)
hypothalamus 0.34% (2 of 583)
kidney 4.45% (26 of 584)
large intestine 5.34% (31 of 581)
liver 0.0%
lower urinary tract 0.17% (1 of 579)
lung 0.35% (2 of 573)
lymph node 0.18% (1 of 570)
mammary gland 0.0%
olfactory lobe 0.35% (2 of 574)
oral epithelium 0.0%
ovary 0.17% (1 of 577)
oviduct 0.0%
pancreas 0.86% (5 of 581)
parathyroid gland 0.18% (1 of 561)
peripheral nervous system 0.35% (2 of 579)
peyers patch 0.0%
pituitary gland 0.17% (1 of 572)
prostate gland 2.08% (12 of 577)
skeletal muscle 0.0%
skin 0.17% (1 of 580)
small intestine 5.51% (32 of 581)
spinal cord 0.35% (2 of 578)
spleen 0.52% (3 of 580)
stomach 3.79% (22 of 580)
striatum 0.52% (3 of 578)
testis 0.86% (5 of 581)
thymus 0.17% (1 of 579)
thyroid gland 2.94% (17 of 579)
trachea 0.52% (3 of 579)
uterus 0.35% (2 of 579)
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 1.18% (6 of 510)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
oral cavity 0.2% (1 of 505)
skin 0.2% (1 of 510)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)

Associated Images

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

Echo

M-Mode Images

32 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

Adult LacZ

LacZ Images Wholemount

19 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

MicroCT E14.5-E15.5

Embryo reconstruction

4 Images

MicroCT E18.5

Embryo reconstruction

2 Images

Auditory Brain Stem Response

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

4 Images

Legacy Phenotype Associated Images

View all 106 images

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.

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
Ventricular septal defect, Intrauterine growth retardation, Atrial septal defect OMIM:617452
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Ventricular septal defect, Intrauterine growth retardation, Atrial septal defect ORPHA:505237

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect OMIM:614429
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot OMIM:125520
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Tetralogy of Fallot... OMIM:615779
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Intrauterine growth retardation ORPHA:1937
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot OMIM:601348
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Death in childhood, Atrial septal defect OMIM:253300
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Death in infan... ORPHA:1354
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Hypoplasia of right ventricle... ORPHA:1209
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... OMIM:607941
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect, Death in infancy OMIM:614876
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... OMIM:614980
Megabladder, Congenital
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, ... OMIM:618719
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
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
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... ORPHA:98849
Microcephaly-Cardiomyopathy Syndrome
Ventricular septal defect, Dilated cardiomyopathy, Intrauterine growth retardation ORPHA:2515
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Death in childhood OMIM:613759
Mesoaxial Hexadactyly And Cardiac Malformation
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect OMIM:249670
Hypoplastic Left Heart Syndrome 2
Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia, Mitral atresia OMIM:614435
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Ventricular septal defect, Atrial septal defect OMIM:614249
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Ventricular septal defect, Neonatal death, Truncus arteriosus OMIM:228940
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Tetralogy of Fallot OMIM:617992
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Ventricular septal hypertrophy OMIM:614947
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Aortic Valve Disease 1
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... OMIM:109730
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal de... OMIM:619371
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Adams-Oliver Syndrome 4
Ventricular septal defect, Atrial septal defect OMIM:615297
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Ventricular sep... OMIM:108900
Joubert Syndrome 18
Ventricular septal defect, Intrauterine growth retardation OMIM:614815
Indomethacin Embryofetopathy
Ventricular septal defect, Atrial septal defect, Cardiomyopathy ORPHA:1909
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect OMIM:616816
Atrial Septal Defect 1
Bicuspid aortic valve, Aortic valve stenosis, Secundum atrial septal defect, Atrial septal defect... OMIM:108800
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect OMIM:614262
Catel-Manzke Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:1388
46,Xx Sex Reversal 5
Ventricular septal defect, Secundum atrial septal defect, Hypoplastic left heart OMIM:618901
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... 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
Ventricular septal defect, Hypertrophic cardiomyopathy, Death in infancy OMIM:616277
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... OMIM:613854
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot ORPHA:251076
Fadd-Related Immunodeficiency
Ventricular septal defect ORPHA:306550
16P13.11 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect, Transposition of the great arteries, Tetralogy o... ORPHA:261243
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Ventricular septal defect, Intrauterine growth retardation OMIM:617021
Coffin-Siris Syndrome 10
Ventricular septal defect OMIM:618506
Polysyndactyly With Cardiac Malformation
Ventricular septal defect, Stillbirth, Atrial septal defect OMIM:263630
Xk Aprosencephaly Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:3469
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect OMIM:619717
Lambert Syndrome
Ventricular septal defect, Intrauterine growth retardation ORPHA:1296
Primary Non-Essential Cutis Verticis Gyrata
Ventricular septal defect, Atrial septal defect ORPHA:357225
Genitopalatocardiac Syndrome
Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries OMIM:231060
Microphthalmia, Syndromic 12
Ventricular septal defect, Hypoplastic left atrium OMIM:615524
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Short Stature, Developmental Delay, And Congenital Heart Defects
Ventricular septal defect, Atrial septal defect, Patent foramen ovale OMIM:617044
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Ventricular septal defe... OMIM:613751
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Hypoplastic left heart ORPHA:2476
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Atrial septal defect OMIM:613458
Fetal Trimethadione Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... ORPHA:1913
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:83473
14Q11.2 Microdeletion Syndrome
Ventricular septal defect ORPHA:261120
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Truncus arteriosus OMIM:601355
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Ventricular septal defect OMIM:616901
Chromosome 15Q14 Deletion Syndrome
Ventricular septal defect, Atrial septal defect OMIM:616898
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Atrial septal defect, Aortic valve stenosis, Hypoplastic left hear... OMIM:220210
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Hypoplastic left heart ORPHA:1455
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Intrauterine growth retardation, Hypoplastic left heart ORPHA:2772
Hadziselimovic Syndrome
Ventricular septal defect, Ventricular hypertrophy, Atrial septal defect, Tetralogy of Fallot OMIM:612946
Weill-Marchesani Syndrome
Pulmonic stenosis, Ventricular septal defect, Aortic valve stenosis ORPHA:3449
8Q12 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:228399
Li-Campeau Syndrome
Ventricular septal defect, Atrial septal defect, Patent foramen ovale OMIM:619189
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Aase-Smith Syndrome I
Ventricular septal defect, Death in infancy OMIM:147800
Grange Syndrome
Ventricular septal defect ORPHA:79094
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Ventric... ORPHA:1461
Cardiofaciocutaneous Syndrome 3
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:615279
Lambotte Syndrome
Ventricular septal defect, Intrauterine growth retardation OMIM:245552
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Intrauterine growth retardation, Truncus arteriosus ORPHA:2516
Filippi Syndrome
Ventricular septal defect, Intrauterine growth retardation OMIM:272440
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventricular septal defect, Atrial septal defect OMIM:618974
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Timothy Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly OMIM:601005
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Ventricular septal defect, Intrauterine growth retardation, Atrial septal defect OMIM:608406
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Atrial septal defect, Cardiomyopathy, Situs inversus totalis OMIM:249270
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Atrial septal defect, Truncus arteriosus, Abnormal heart morphology ORPHA:401935
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Cardiomegaly OMIM:618652
Diamond-Blackfan Anemia 6
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Mitral valve prolapse, Vent... OMIM:612561
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:49827
Noonan Syndrome 12
Ventricular septal defect, Tetralogy of Fallot OMIM:618624
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... ORPHA:3092
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ventricular septal defect, Hypoplastic right heart, Intrauterine growth retardation, Atrial septa... OMIM:618142
Aphalangy With Hemivertebrae
Ventricular septal defect OMIM:207620
Mcdonough Syndrome
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Aortic valve stenosis OMIM:248950
Leigh Syndrome With Leukodystrophy
Ventricular septal defect, Hypertrophic cardiomyopathy ORPHA:255241
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Vent... OMIM:179613
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defe... OMIM:618316
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Atrial septal defect, Atrioventricular canal defect, Tetralogy of Fallot, Ventricular septal defe... OMIM:600123
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect OMIM:314320
Congenital Rubella Syndrome
Ventricular septal defect, Intrauterine growth retardation, Atrial septal defect ORPHA:290
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal tricuspid valve morphology ORPHA:3405
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect ORPHA:3369
Tyshchenko Syndrome
Ventricular septal defect, Pulmonic stenosis, Intrauterine growth retardation, Atrial septal defect OMIM:615102
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Tetralogy of Fallot ORPHA:1166
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
3C Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Aortic valve stenosis, Hypoplastic left h... ORPHA:7
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Bicuspid aortic valve, Pulmonic stenosis, Ventricular septal defect, Ventricular hypertrophy, Abn... ORPHA:284169
Noonan Syndrome 8
Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Ventricular septal defect,... OMIM:615355
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Right ventricular hypertrophy OMIM:614261
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent foramen ovale OMIM:610338
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Roifman Syndrome
Ventricular septal defect, Noncompaction cardiomyopathy, Intrauterine growth retardation OMIM:616651
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect OMIM:602501
Methimazole Embryofetopathy
Ventricular septal defect, Intrauterine growth retardation ORPHA:1923
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Total anomalous pulmonary v... ORPHA:261183
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect, Intrauterine growth retardation OMIM:617635
Heterotaxy, Visceral, 12, Autosomal
Double outlet right ventricle, Double inlet right ventricle, Atrial septal defect, Hypoplastic le... OMIM:619702
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Death in childhood, Hypertrophic cardiomyopathy, Intrauterine growth r... OMIM:612938
Woods Syndrome
Ventricular septal defect OMIM:615236
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect ORPHA:93267
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Ventricular septal defect, Intrauterine growth retardation, Atrial septal defect ORPHA:75389
Emanuel Syndrome
Aortic valve stenosis, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Intrau... OMIM:609029
Intellectual Developmental Disorder, Autosomal Dominant 48
Ventricular septal defect, Bicuspid aortic valve, Intrauterine growth retardation OMIM:617751
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Left ventricular hypertrophy, Biventricular hypertrophy, Patent forame... OMIM:615474
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Ventricular septal defect, Atrial septal defect OMIM:613870
Catel-Manzke Syndrome
Ventricular septal defect, Dextrocardia, Overriding aorta, Intrauterine growth retardation OMIM:616145
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Ventricular septal defect, Bicuspid aortic valve, Patent foramen ovale, Abnormal heart morphology ORPHA:500159
Lethal Congenital Contracture Syndrome 2
Ventricular septal defect, Dilated cardiomyopathy OMIM:607598
Adams-Oliver Syndrome 6
Ventricular septal defect, Truncus arteriosus OMIM:616589
Congenital Disorder Of Glycosylation, Type Iil
Ventricular septal defect, Intrauterine growth retardation, Death in infancy, Atrial septal defect OMIM:614576
X-Linked Lissencephaly With Abnormal Genitalia
Ventricular septal defect, Death in infancy ORPHA:452
Warsaw Breakage Syndrome
Ventricular septal defect, Intrauterine growth retardation, Tetralogy of Fallot OMIM:613398
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect OMIM:126320
Pontocerebellar Hypoplasia, Type 17
Ventricular septal defect, Intrauterine growth retardation, Secundum atrial septal defect OMIM:619909
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Atrial septal defect, Right ventricular hypertrophy, Ventricular septal defect, Patent foramen ov... OMIM:208085
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Hypo... ORPHA:210122
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic left heart, Atrioventricular... ORPHA:392
Oculoauriculofrontonasal Syndrome
Ventricular septal defect ORPHA:398156
Desbuquois Syndrome
Ventricular septal defect ORPHA:1425
Chromosome 14Q11-Q22 Deletion Syndrome
Ventricular septal defect, Patent foramen ovale OMIM:613457
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Partial ... OMIM:617478
Congenital Gerbode Defect
Bacterial endocarditis, Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosi... ORPHA:99095
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Ventricular septal defect ORPHA:2256
Meckel Syndrome, Type 4
Ventricular septal defect, Intrauterine growth retardation, Atrial septal defect OMIM:611134
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Patent foramen ovale ORPHA:329224
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Ventricular septal defect, Death in infancy, Right ventricular hypertrophy OMIM:613404
Burn-Mckeown Syndrome
Ventricular septal defect, Atrial septal defect OMIM:608572
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Acrocardiofacial Syndrome
Mitral stenosis, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Death in i... ORPHA:2008
Suleiman-El-Hattab Syndrome
Ventricular septal defect, Atrial septal defect, Patent foramen ovale OMIM:618950
Coffin-Siris Syndrome 7
Ventricular septal defect, Bicuspid aortic valve, Patent foramen ovale OMIM:618027
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Intrauterine growth retardation, Patent foramen ovale, Atrial septal d... OMIM:609053
Transaldolase Deficiency
Ventricular septal defect, Intrauterine growth retardation, Patent foramen ovale, Atrial septal d... OMIM:606003
Noonan Syndrome 9
Pulmonic stenosis, Ventricular septal defect OMIM:616559
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Partia... OMIM:619343
Cleft Palate, Cardiac Defects, And Mental Retardation
Ventricular septal defect, Atrial septal defect, Perimembranous ventricular septal defect, Secund... OMIM:600987
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Ventricular septal defect, Intrauterine growth retardation, Atrial septal defect OMIM:617452
Serkal Syndrome
Pulmonic stenosis, Ventricular septal defect ORPHA:139466
Isolated Klippel-Feil Syndrome
Ventricular septal defect ORPHA:2345
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect OMIM:609654
Short Stature-Micrognathia Syndrome
Ventricular septal defect, Intrauterine growth retardation OMIM:617164
Insulin-Like Growth Factor I, Resistance To
Ventricular septal defect, Intrauterine growth retardation, Patent foramen ovale, Atrial septal d... OMIM:270450
Weiss-Kruszka Syndrome
Ventricular septal defect, Left ventricular hypertrophy, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, Tetralogy of Fallot ORPHA:3306
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect OMIM:601357
Trisomy 13
Ventricular septal defect, Intrauterine growth retardation, Atrial septal defect ORPHA:3378
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Overriding aorta, Intrauterine growth retardation, Cardiomegaly OMIM:617022
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Ventricular septal defect, Overriding aorta, Atrial septal defect OMIM:601927
Tetraamelia Syndrome 2
Ventricular septal defect OMIM:618021
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Ventricular septal de... ORPHA:477817
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Intrauterine growth retardation, Abnormal heart morphology ORPHA:494344
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Pulmonic ... OMIM:619657
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Cardiome... OMIM:616897
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology ORPHA:369891
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Pericard... OMIM:618775
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Ventricular septal defect, Intrauterine growth retardation, Atrial septal defect ORPHA:505237
Brachydactyly, Type B1
Ventricular septal defect OMIM:113000
19P13.3 Microduplication Syndrome
Ventricular septal defect, Intrauterine growth retardation ORPHA:447980
Prune Belly Syndrome
Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot ORPHA:2970
Aminopterin/Methotrexate Embryofetopathy
Ventricular septal defect, Intrauterine growth retardation, Tetralogy of Fallot, Situs inversus t... ORPHA:1908
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Atrial septal defect OMIM:300963
Congenitally Corrected Transposition Of The Great Arteries
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... ORPHA:216694
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
Cardiac Diverticulum
Tricuspid atresia, Mitral stenosis, Bicuspid aortic valve, Atrial septal defect, Aortic valve ste... ORPHA:1686
22Q11.2 Duplication Syndrome
Ventricular septal defect, Transposition of the great arteries, Tetralogy of Fallot, Hypoplastic ... ORPHA:1727
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Tetralogy of Fallot, Ve... ORPHA:3426
Donnai-Barrow Syndrome
Ventricular septal defect ORPHA:2143
Filippi Syndrome
Ventricular septal defect, Intrauterine growth retardation ORPHA:3255
Braddock-Carey Syndrome 1
Ventricular septal defect, Aortic valve prolapse OMIM:619980
15Q14 Microdeletion Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:261190
Emanuel Syndrome
Aortic valve stenosis, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Intrau... ORPHA:96170
Microphthalmia, Syndromic 9
Atrial septal defect, Pulmonic stenosis, Single ventricle, Tetralogy of Fallot, Hypoplastic left ... OMIM:601186
King-Denborough Syndrome
Ventricular septal defect OMIM:619542
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ventricular septal defect, Death in childhood, Intrauterine growth retardation, Death in infancy OMIM:243150
Transketolase Deficiency
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Abnormal heart morphology ORPHA:488618
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventricular septal defect, Atrial septal defect OMIM:603387
Nephrotic Syndrome, Type 11
Ventricular septal defect, Dilated cardiomyopathy OMIM:616730
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Intrauterine growth retardation, Death in infancy OMIM:300514
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect OMIM:218350
Scimitar Syndrome
Tricuspid atresia, Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septa... ORPHA:185
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Ventricular septal defect, Atrial septal defect, Patent foramen ovale OMIM:618870
Spondylo-Ocular Syndrome
Ventricular septal defect ORPHA:85194
Diamond-Blackfan Anemia 7
Ventricular septal defect, Intrauterine growth retardation, Tetralogy of Fallot, Secundum atrial ... OMIM:612562
Tatton-Brown-Rahman Syndrome
Ventricular septal defect, Atrial septal defect OMIM:615879
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ov... ORPHA:99094
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Tetralogy of Fallot OMIM:612582
Atrioventricular Septal Defect 3
Atrioventricular canal defect, Primum atrial septal defect, Inlet ventricular septal defect OMIM:600309
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Abnormal heart morphology ORPHA:254534
Heterotaxy, Visceral, 1, X-Linked
Double outlet right ventricle, Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Atr... OMIM:306955
Diabetic Embryopathy
Ventricular septal defect, Transposition of the great arteries, Tetralogy of Fallot ORPHA:1926
19P13.12 Microdeletion Syndrome
Ventricular septal defect, Intrauterine growth retardation, Atrial septal defect ORPHA:254346
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect OMIM:615630
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Ventricular septal defect, Ab... ORPHA:363705
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Ventricular septal defect, Dextrotransposition of the great arteries OMIM:619995
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventricular septal defect, Intrauterine growth retardation ORPHA:79243
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Ventricular septal defect, Atrial septal defect OMIM:301039
Heterotaxy, Visceral, 5, Autosomal
Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula... OMIM:270100
Meacham Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Aortic valve stenosis, Hypoplastic left ... ORPHA:3097
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Intrauterine growth retardation, Atrial septal defect OMIM:617602
Stankiewicz-Isidor Syndrome
Ventricular septal defect, Truncus arteriosus OMIM:617516
Noonan Syndrome 4
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:610733
Seckel Syndrome 9
Ventricular septal defect, Intrauterine growth retardation, Atrial septal defect OMIM:616777
Keutel Syndrome
Ventricular septal defect ORPHA:85202
Phaver Syndrome
Ventricular septal defect, Intrauterine growth retardation ORPHA:2876
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Ventricular septal defect, Intrauterine growth retardation, Atrial septal defect OMIM:617360
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Bicuspid aortic valve, Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Abn... ORPHA:457279
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Ventricular septal defect, Pulmonic stenosis, Intrauterine growth retardation, Double outlet righ... OMIM:301056
Pelger-Huet Anomaly
Ventricular septal defect OMIM:169400
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Atrial septal defect OMIM:619769
Codas Syndrome
Ventricular septal defect ORPHA:1458
3P25.3 Microdeletion Syndrome
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect ORPHA:435638
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Atrial septal defect, Pulmonic stenosis, Total absence of the perica... OMIM:600001
Cooper-Jabs Syndrome
Ventricular septal defect ORPHA:1488
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Ventricular septal defect, Atrial septal defect OMIM:617061
19Q13.11 Microdeletion Syndrome
Ventricular septal defect, Intrauterine growth retardation ORPHA:217346
Costello Syndrome
Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic cardiomyopathy ORPHA:3071
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect OMIM:617895
Myopathy With Extrapyramidal Signs
Ventricular septal defect OMIM:615673
Thakker-Donnai Syndrome
Ventricular septal defect, Intrauterine growth retardation, Transposition of the great arteries, ... ORPHA:1780
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Ventricular septal de... ORPHA:371428
Kapur-Toriello Syndrome
Ventricular septal defect, Intrauterine growth retardation, Atrial septal defect OMIM:244300
Maternal Phenylketonuria
Double outlet right ventricle, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal de... ORPHA:2209
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Abnormal heart morphology ORPHA:404440
Mosaic Variegated Aneuploidy Syndrome 2
Severe intrauterine growth retardation, Atrial septal defect, Ventricular septal defect, Subvalvu... OMIM:614114
Severe X-Linked Intellectual Disability, Gustavson Type
Ventricular septal defect ORPHA:3078
Kagami-Ogata Syndrome
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect OMIM:608149
Galloway-Mowat Syndrome 7
Ventricular septal defect, Dilated cardiomyopathy OMIM:618348
Beaulieu-Boycott-Innes Syndrome
Ventricular septal defect OMIM:613680
Carpenter Syndrome 1
Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect, Transpos... OMIM:201000
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Char Syndrome
Ventricular septal defect ORPHA:46627
Chromosome 18Q Deletion Syndrome
Absence of the pulmonary valve, Atrial septal defect, Aortic valve stenosis, Dysplastic pulmonary... OMIM:601808
Chromosome 15Q25 Deletion Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect, Dextrocardia, Coronary artery fist... OMIM:614294
Radio-Tartaglia Syndrome
Ventricular septal defect OMIM:619312
Noonan Syndrome 10
Mitral stenosis, Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Ventricul... OMIM:616564
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
Ventricular septal defect, Atrial septal defect OMIM:220500
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular septal defect, Ventricular hypertrophy ORPHA:369929
Hand-Foot-Genital Syndrome
Ventricular septal defect, Miscarriage ORPHA:2438
Johnson Neuroectodermal Syndrome
Ventricular septal defect OMIM:147770
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Pulmonic stenosis, Ventricular septal defect OMIM:615508
Kapur-Toriello Syndrome
Ventricular septal defect, Tetralogy of Fallot ORPHA:2328
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Ventricular septal defect, Intrauterine growth retardation ORPHA:166035
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Ventricular septal defect, Dilated cardiomyopathy, Patent foramen ovale, Pe... ORPHA:26793
Kury-Isidor Syndrome
Ventricular septal defect OMIM:619762
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Dextrocardia, Complete atriov... OMIM:264480
Mosaic Trisomy 9
Atrial septal defect, Endocardial fibroelastosis, Ventricular septal defect, Dextrocardia, Abnorm... ORPHA:99776
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:2519
Zellweger Syndrome
Ventricular septal defect, Death in infancy ORPHA:912
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Pulmonic stenosis, Atrioventricular canal defect OMIM:619123
Noonan Syndrome 2
Mitral stenosis, Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricu... OMIM:605275
Contractural Arachnodactyly, Congenital
Ventricular septal defect, Mitral valve prolapse, Bicuspid aortic valve, Atrial septal defect OMIM:121050
Dysosteosclerosis
Ventricular septal defect ORPHA:1782
Orotic Aciduria
Ventricular septal defect, Atrial septal defect OMIM:258900
Alagille Syndrome
Ventricular septal defect, Intrauterine growth retardation, Atrial septal defect ORPHA:52
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Ventricular septal defect, Coronary artery fistula, Atrial septal defect, Neonatal death OMIM:620024
Aortic Arch Interruption
Double outlet right ventricle, Bicuspid aortic valve, Aortic valve atresia, Left ventricular hype... ORPHA:2299
Cat Eye Syndrome
Tricuspid atresia, Atrial septal defect, Hypoplastic left heart, Pulmonic stenosis, Tetralogy of ... OMIM:115470
Sifrim-Hitz-Weiss Syndrome
Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot OMIM:617159
Chromosome 9P Deletion Syndrome
Ventricular septal defect, Atrial septal defect, Perimembranous ventricular septal defect OMIM:158170
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Ventricular septal defect ORPHA:1770
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:457193
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Subvalvular aortic stenosis, Atrial septal defect OMIM:613001
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Dysplastic pulmonary valve OMIM:619103
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Ventricular septal defect, Intrauterine growth retardation, Atrial septal defect OMIM:300998
Sotos Syndrome
Ventricular septal defect, Atrial septal defect, Muscular ventricular septal defect OMIM:117550
Fanconi Anemia, Complementation Group N
Ventricular septal defect OMIM:610832
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Bicuspid aortic valve, Atrial septal defect, Secundum atri... OMIM:620066
Gm1 Gangliosidosis
Ventricular septal defect, Cardiomyopathy, Abnormal heart morphology ORPHA:354
Bohring-Opitz Syndrome
Ventricular septal defect, Intrauterine growth retardation, Atrial septal defect OMIM:605039
Pentalogy Of Cantrell
Ventricular septal defect, Abnormal pericardium morphology, Atrial septal defect, Tetralogy of Fa... ORPHA:1335
Heart And Brain Malformation Syndrome
Ventricular septal defect OMIM:616920
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Tetralogy of Fallot OMIM:153400
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect OMIM:219730
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Ventricular septal defect, Death in infancy OMIM:235255
Kohlschutter-Tonz Syndrome-Like
Ventricular septal defect, Intrauterine growth retardation, Death in adolescence OMIM:619229
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Ventricular septal defect, Atrial septal defect OMIM:610978
Ogden Syndrome
Ventricular septal defect ORPHA:276432
Mandibulofacial Dysostosis, Guion-Almeida Type
Ventricular septal defect, Atrial septal defect OMIM:610536
Ellis Van Creveld Syndrome
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect, Situs inversus to... ORPHA:289
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Intrauterine growth retardation OMIM:611812
Teebi Hypertelorism Syndrome 1
Ventricular septal defect, Atrial septal defect OMIM:145420
Trisomy 1Q
Ventricular septal defect ORPHA:261344
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Atrial septal defect, Atrioventricular canal defect, Ventricular septal de... ORPHA:453499
Noonan Syndrome 3
Tricuspid valve prolapse, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Mit... OMIM:609942
Koolen-De Vries Syndrome
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Intrau... OMIM:610443
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Ventricular septal defect, Atrial septal defect OMIM:309520
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect OMIM:234050
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal defect, Hypoplastic left heart, Atr... OMIM:265380
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect OMIM:612530
Cerebrocostomandibular Syndrome
Ventricular septal defect, Intrauterine growth retardation, Death in infancy ORPHA:1393
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Double... ORPHA:2255
Distal Monosomy 19P13.3
Tricuspid valve prolapse, Ventricular septal defect, Pulmonary valve atresia ORPHA:96129
Distal Trisomy 5Q
Ventricular septal defect, Dextrocardia ORPHA:96097
Short-Rib Thoracic Dysplasia 12
Ventricular septal defect, Patent foramen ovale, Intrauterine growth retardation, Neonatal death OMIM:269860
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect ORPHA:77298
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Ventricular septal defect ORPHA:52055
Truncus Arteriosus
Atrial septal defect, Right ventricular hypertrophy, Pulmonic stenosis, Tetralogy of Fallot, Vent... ORPHA:3384
Meier-Gorlin Syndrome 7
Ventricular septal defect, Complete atrioventricular canal defect, Atrial septal defect OMIM:617063
Brain-Lung-Thyroid Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Atrial septal defect, Patent foram... ORPHA:209905
Cardiac-Urogenital Syndrome
Atrial septal defect, Hypoplastic left heart, Scimitar anomaly, Tetralogy of Fallot, Ventricular ... OMIM:618280
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ventricular septal defect OMIM:106260
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ventricular septal defect, Pericardial effusion, Atrial septal defect, Pericardial lymphangiectasia OMIM:235510
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Death in childhood, Tetralogy of Fallot OMIM:600460
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Ventricular septal defect, Bicuspid aortic valve, Pulmonic stenosis, Atrial septal defect OMIM:610759
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Dilated cardiomyopathy ORPHA:261250
Down Syndrome
Double outlet right ventricle, Atrial septal defect, Atrioventricular canal defect, Tetralogy of ... OMIM:190685
16P13.11 Microdeletion Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:261236
Leigh Syndrome
Ventricular septal defect, Hypertrophic cardiomyopathy, Intrauterine growth retardation ORPHA:506
Kleefstra Syndrome
Ventricular septal defect, Bicuspid aortic valve, Tetralogy of Fallot ORPHA:261494
Cohen Syndrome
Ventricular septal defect, Mitral valve prolapse, Intrauterine growth retardation ORPHA:193
Holt-Oram Syndrome
Ventricular septal defect, Secundum atrial septal defect, Hypoplastic left heart OMIM:142900
Donnai-Barrow Syndrome
Ventricular septal defect OMIM:222448
Peroxisome Biogenesis Disorder 1A (Zellweger)
Ventricular septal defect, Death in childhood OMIM:214100
Recombinant 8 Syndrome
Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot ORPHA:96167
Chops Syndrome
Ventricular septal defect, Anomalous pulmonary venous return, Patent foramen ovale OMIM:616368
Congenital Disorder Of Glycosylation, Type Iia
Ventricular septal defect OMIM:212066
Congenital Tracheomalacia
Atrial septal defect, Single ventricle, Tetralogy of Fallot, Ventricular septal defect, Partial a... ORPHA:95430
Syndromic Diarrhea
Bicuspid aortic valve, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Intr... ORPHA:84064
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Ventricular septal defect ORPHA:251028
Rabson-Mendenhall Syndrome
Ventricular septal defect, Intrauterine growth retardation, Cardiomyopathy, Atrial septal defect ORPHA:769
Congenital Disorder Of Glycosylation, Type It
Ventricular septal defect, Dilated cardiomyopathy, Cardiomegaly OMIM:614921
Phelan-Mcdermid Syndrome
Ventricular septal defect OMIM:606232
X Small Rings
Ventricular septal defect, Bicuspid aortic valve, Mitral stenosis ORPHA:96201
C Syndrome
Ventricular septal defect OMIM:211750
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Tra... ORPHA:99050
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Ventricular septal defect OMIM:300472
Distal 22Q11.2 Microdeletion Syndrome
Ventricular septal defect, Intrauterine growth retardation, Truncus arteriosus, Atrial septal defect ORPHA:261330
Pallister-Hall Syndrome
Ventricular septal defect, Intrauterine growth retardation, Neonatal death OMIM:146510
Lateral Meningocele Syndrome
Ventricular septal defect ORPHA:2789
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Ventricular septal defect, Perimembranous ventricular septal defect OMIM:301040
Brachytelephalangic Chondrodysplasia Punctata
Ventricular septal defect, Atrial septal defect ORPHA:79345
Weill-Marchesani Syndrome 1
Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis OMIM:277600
Frank-Ter Haar Syndrome
Double outlet right ventricle, Atrial septal defect, Secundum atrial septal defect, Ventricular s... OMIM:249420
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect, Hypoplastic left heart, Pulmo... OMIM:100300
3Q29 Microduplication Syndrome
Ventricular septal defect ORPHA:251038
Craniofacioskeletal Syndrome
Ventricular septal defect, Intrauterine growth retardation, Atrial septal defect OMIM:300712
Trisomy 18
Ventricular septal defect, Intrauterine growth retardation, Atrial septal defect ORPHA:3380
Alg9-Cdg
Atrial septal defect, Ventricular septal defect, Pericardial effusion, Abnormal left ventricular ... ORPHA:79328
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Patent foramen ovale, Tetralogy of Fallot, Hypoplastic left heart OMIM:618748
Intellectual Developmental Disorder, Autosomal Dominant 53
Ventricular septal defect OMIM:617798
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Ventricular septal defect, Intrauterine growth retardation OMIM:614653
Loeys-Dietz Syndrome 5
Ventricular septal defect, Atrial septal defect, Patent foramen ovale OMIM:615582
Cerebellofaciodental Syndrome
Ventricular septal defect, Mitral valve prolapse OMIM:616202
Trichothiodystrophy
Ventricular septal defect, Intrauterine growth retardation, Cardiomyopathy ORPHA:33364
Mckusick-Kaufman Syndrome
Ventricular septal defect, Atrial septal defect, Hypoplastic left heart, Tetralogy of Fallot ORPHA:2473
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Pulmonary valve atresia, Intrauterine growth retardation, Atrial septa... OMIM:301030
Autosomal Recessive Robinow Syndrome
Abnormal pulmonary valve morphology, Atrial septal defect, Tetralogy of Fallot, Ventricular septa... ORPHA:1507
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:464738
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Mitral valve prolapse, Cardio... OMIM:602782
Facial Dysmorphism With Multiple Malformations
Ventricular septal defect, Intrauterine growth retardation, Transposition of the great arteries, ... OMIM:227255
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Atrioventricular canal defect, Tetralogy of Fallot, Ventricular septal def... ORPHA:508498
Mosaic Trisomy 16
Ventricular septal defect, Atrial septal defect, Intrauterine growth retardation, Abnormal heart ... ORPHA:1708
Mosaic Trisomy 1
Ventricular septal defect ORPHA:1692
Mgat2-Cdg
Ventricular septal defect, Abnormal heart morphology ORPHA:79329
X-Linked Intellectual Disability, Nascimento Type
Mitral stenosis, Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, P... ORPHA:163956
Trichohepatoenteric Syndrome 1
Ventricular septal defect, Pulmonic stenosis, Intrauterine growth retardation, Tetralogy of Fallot OMIM:222470
Orofaciodigital Syndrome V
Ventricular septal defect, Tetralogy of Fallot OMIM:174300
Jacobsen Syndrome
Aortic valve stenosis, Hypoplastic left heart, Ventricular septal defect, Death in infancy, Intra... ORPHA:2308
7Q11.23 Microduplication Syndrome
Ventricular septal defect, Aortic valve stenosis, Atrial septal defect ORPHA:96121
Kaufman Oculocerebrofacial Syndrome
Ventricular septal defect, Atrial septal defect OMIM:244450
Codas Syndrome