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
preweaning lethality, incomplete penetrance Otud6btm1b(EUCOMM)Wtsi HOM   Early adult 0.00
increased basophil cell number Otud6btm1b(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

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Echo

M-Mode Images

32 Images

Embryo LacZ

LacZ images wholemount

8 Images

MicroCT E14.5-E15.5

Embryo reconstruction

4 Images

Adult LacZ

LacZ Images Wholemount

19 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 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
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 Similarity of
phenotypes
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