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Gene: Ripply3 MGI:2181192

Gene Summary

Name:

ripply transcriptional repressor 3

Synonyms:

Dscr6

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

No results meet the p-value threshold

Select physiological systems to view:

Viewing: all phenotypes

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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	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	Not available
Blood vessel	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	0.0% (0 of 2)
Brainstem	N/A	heterozygote	Not available
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	Not available
Cerebral cortex	N/A	heterozygote	Not available
Eye	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	0.0% (0 of 2)
Hippocampus	N/A	heterozygote	Not available
Hypothalamus	N/A	heterozygote	Not available
Kidney	N/A	heterozygote	0.0% (0 of 2)
Large intestine	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	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)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	Not available
Ovary	N/A	heterozygote	0.0% (0 of 2)
Oviduct	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle tissue	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	Not available
Testis	N/A	heterozygote	Not available
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

No Embryo expression data was found for this gene.

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%
blood vessel
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%
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%
oesophagus
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyer's patch
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle tissue
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%
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images

Ripply3^{tm1a(EUCOMM)Wtsi}
forearm, HOM, Male, WTSI

Ripply3^{tm1a(EUCOMM)Wtsi}
head, HOM, Female, WTSI

Ripply3^{tm1a(EUCOMM)Wtsi}
head, HOM, Male, WTSI

Ripply3^{tm1a(EUCOMM)Wtsi}
head, HOM, Female, WTSI

View all 73 images

Ripply3^{tm1a(EUCOMM)Wtsi}
abnormal ear rotation, HOM, Female, WTSI

Ripply3^{tm1a(EUCOMM)Wtsi}
back skin, HOM, Female, WTSI

Human diseases caused by Ripply3 mutations

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

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

Human diseases associated with Ripply3 (0 diseases)
Human diseases predicted to be associated with Ripply3 (927 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ripply3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal coronary artery morphology, Maternal diabetes, Cardiomegaly, Abnormal aortic arch morpho...	ORPHA:860
Lambert Syndrome	Ventricular septal defect, Jaundice, Cholestasis, Branchial anomaly, Intrahepatic biliary atresia	ORPHA:1296
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Heterotaxy, Visceral, 7, Autosomal	Atrial septal defect, Cyanosis, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atri...	OMIM:616749
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Cyanosis, Ventricular septal defect, Partial anomalous pulmonary venous return,...	OMIM:617478
Aorta Coarctation	Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy...	ORPHA:1457
Tricuspid Atresia	Atrial septal defect, Cyanosis, Ventricular septal defect, Patent foramen ovale, Hypoplasia of ri...	ORPHA:1209
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Neonatal insulin-dependent diabetes mellitus, Biliary atresia, Aplasia/Hypoplasia of the gallblad...	ORPHA:2255
Velocardiofacial Syndrome	Hypoparathyroidism, Ventricular septal defect, Cryptorchidism, Interrupted aortic arch, Pulmonary...	OMIM:192430
Distal Duplication 14Q	Patent ductus arteriosus, Abnormal aortic morphology	ORPHA:1705
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Hypoplastic tricuspid valve, Diabetes mellitus, Double outlet left ventricle,...	OMIM:600001
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Asplenia, Atrial septal defect, Neonatal death, At...	OMIM:265380
22Q11.2 Duplication Syndrome	Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt...	ORPHA:1727
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Howell-Jolly bodies, Ventricular septal defect, Portal inflammation, Left superior vena cava drai...	OMIM:613759
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
X-Linked Mandibulofacial Dysostosis	Cryptorchidism, Branchial anomaly, Pulmonic stenosis, Webbed neck, Abnormal mitral valve morpholo...	ORPHA:1131
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Interrupted aortic arch, Coarctation of aorta	OMIM:107550
Double Outlet Right Ventricle	Hypoparathyroidism, Cyanosis, Ventricular septal defect, Double outlet right ventricle, Coarctati...	ORPHA:3426
Adams-Oliver Syndrome 4	Ventricular septal defect, Cutis marmorata, Patent ductus arteriosus, Atrial septal defect, Umbil...	OMIM:615297
Cardiac-Urogenital Syndrome	Accessory spleen, Atrial septal defect, Cor triatrium sinister, Unilateral cryptorchidism, Ventri...	OMIM:618280
Progressive Osseous Heteroplasia	Abnormality of the parathyroid gland	ORPHA:2762
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion	Abnormality of the parathyroid gland, Secondary hyperparathyroidism	ORPHA:140286
Pulmonary Atresia-Intact Ventricular Septum Syndrome	Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology, Maternal...	ORPHA:1208
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Overriding aorta, Cyanosis, Cryptorchidism, Patent ductus arteriosus, Pulmonic stenosis, Atrial s...	ORPHA:3304
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Branchial cyst, Cryptorchidism, Pulmonary artery stenosis	ORPHA:435938
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta	ORPHA:228190
Feingold Syndrome 1	Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Asplenia, Patent ductus arterios...	OMIM:164280
Craniofacioskeletal Syndrome	Absent gallbladder, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Interrup...	OMIM:300712
Familial Aortic Dissection	Cutis marmorata, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Muco...	ORPHA:229
Heart And Brain Malformation Syndrome	Ventricular septal defect, Interrupted aortic arch	OMIM:616920
Aortic Aneurysm, Familial Thoracic 4	Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th...	OMIM:132900
Digeorge Syndrome	Parathyroid agenesis, Ventricular septal defect, Decreased circulating parathyroid hormone level,...	OMIM:188400
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal...	OMIM:306955
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Thromboc...	ORPHA:163979
Verheij Syndrome	Branchial cyst, Truncus arteriosus, Ventricular septal defect, Short neck	OMIM:615583
Distal 7Q11.23 Microduplication Syndrome	Cryptorchidism, Patent ductus arteriosus, Frontal encephalocele, Aortic aneurysm	ORPHA:261102
Septopreoptic Holoprosencephaly	Precocious puberty, Perisylvian polymicrogyria, Coarctation of aorta, Anterior hypopituitarism, C...	ORPHA:280195
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta	OMIM:604381
Ciliary Dyskinesia, Primary, 37	Dextrocardia, Situs inversus totalis, Right aortic arch, Hypothyroidism, Goiter	OMIM:617577
1Q21.1 Microdeletion Syndrome	Cryptorchidism, Patent ductus arteriosus, Abnormal cardiac septum morphology, Interrupted aortic ...	ORPHA:250989
Diabetic Embryopathy	Ventricular septal defect, Cryptorchidism, Abnormality of the pancreas, Tetralogy of Fallot, Spin...	ORPHA:1926
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating...	ORPHA:1227
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Increased nuchal translucency, ...	ORPHA:453499
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta	OMIM:601612
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Atrial septal defect, Cyanosis, Ventricular septal defect, Patent ductus arteriosus, Arteria luso...	ORPHA:99050
Methemoglobinemia, Beta Type	Cyanosis, Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis, Methemoglobinemia	OMIM:617973
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A...	OMIM:615779
Mesoaxial Hexadactyly And Cardiac Malformation	Torticollis, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa...	OMIM:249670
Transaldolase Deficiency	Coarctation of aorta, Anemia, Hepatosplenomegaly, Biventricular hypertrophy, Telangiectasia, Cirr...	ORPHA:101028
Congenital Rubella Syndrome	Hepatomegaly, Atrial septal defect, Ventricular septal defect, Splenomegaly, Jaundice, Patent duc...	ORPHA:290
Heart Defects-Limb Shortening Syndrome	Death in infancy, Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morph...	ORPHA:1354
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Pseudohypoparathyroidism, Short neck	OMIM:612463
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Ventricular septal defect, Short neck, Splenomegaly, Micronodular cir...	OMIM:606003
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Death in childhood	OMIM:302000
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Hepatomegaly, Patent foramen ovale, Patent ductus arteriosus, Coarctation of aorta, Hyperhidrosis...	ORPHA:17
Fetal Minoxidil Syndrome	Cryptorchidism, Umbilical hernia, Ventricular septal defect	ORPHA:1918
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Cryptorchidism, Tetralogy of Fallot, Abnormal aortic morphology, Abnor...	ORPHA:1166
Proteus-Like Syndrome	Thymus hyperplasia, Venous insufficiency, Splenomegaly, Abnormality of the parathyroid gland, Pol...	ORPHA:2969
Familial Papillary Or Follicular Thyroid Carcinoma	Follicular thyroid carcinoma, Chronic noninfectious lymphadenopathy, Abnormal lymph node morpholo...	ORPHA:319487
Ciliary Dyskinesia, Primary, 40	Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca...	OMIM:618300
Li-Campeau Syndrome	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Patent foramen ovale, Atrial...	OMIM:619189
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c...	OMIM:300845
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Vascular dilatation, Pa...	OMIM:606519
Meacham Syndrome	Accessory spleen, Death in infancy, Atrial septal defect, Bicuspid aortic valve, Ventricular sept...	OMIM:608978
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Ventricular septal defect, Short neck, Abnormal aortic morphology, Webbed neck, Truncus arteriosus	ORPHA:2516
Cyanosis, Transient Neonatal	Hepatomegaly, Reticulocytosis, Cyanosis, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Feingold Syndrome Type 1	Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular septal defects, Abnor...	ORPHA:391641
Coarctation Of Aorta	Hypoplastic left heart, Coarctation of aorta	OMIM:120000
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Hypoplastic Left Heart Syndrome	Mitral atresia, Maternal diabetes, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic...	ORPHA:2248
Perlman Syndrome	Cryptorchidism, Pancreatic islet-cell hyperplasia, Interrupted aortic arch	OMIM:267000
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Hydrocele t...	OMIM:601927
Verloove Vanhorick-Brubakk Syndrome	Cryptorchidism, Abnormality of the parathyroid gland	ORPHA:3429
Congenital Heart Block	Cyanosis, Pericardial effusion, Patent ductus arteriosus, Hyperhidrosis, Endocardial fibroelastos...	ORPHA:60041
Branchiogenic-Deafness Syndrome	Branchial cyst, Branchial fistula	OMIM:609166
Double Outlet Left Ventricle	Double outlet left ventricle, Cyanosis, Ventricular septal defect, Abnormal coronary artery cours...	ORPHA:3427
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Ventricular septal defect, Splenomegaly, Coarctation of aorta, Leukopenia, Lymphopenia	OMIM:620210
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent...	OMIM:619702
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Death in infancy, Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Anomalous pulmon...	ORPHA:1120
Intellectual Developmental Disorder, Autosomal Recessive 73	Patent ductus arteriosus, Ventricular septal defect	OMIM:619717
Congenital Heart Defects, Multiple Types, 9	Miscarriage, Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet r...	OMIM:620294
Intellectual Developmental Disorder, Autosomal Dominant 21	Atrial septal defect, Cryptorchidism, Patent ductus arteriosus, Coarctation of aorta	OMIM:615502
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Charge Syndrome	Aortic arch aneurysm, Delayed eruption of teeth, Hypogonadotropic hypogonadism, Cryptorchidism, P...	ORPHA:138
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Abnormality of the endocrine system, Cryptorchidism, Pseudohypoparathyroidism, Short neck	ORPHA:464288
Holoprosencephaly	Encephalocele, Diabetes mellitus, Diabetes insipidus, Ventricular septal defect, Abnormal pulmona...	ORPHA:2162
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao...	ORPHA:3400
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Kallmann Syndrome-Heart Disease Syndrome	Cyanosis, Hypogonadotropic hypogonadism, Anomalous origin of left coronary artery from the pulmon...	ORPHA:2326
Branchiootorenal Syndrome 1	Branchial cyst, Branchial fistula, Euthyroid goiter	OMIM:113650
Bardet-Biedl Syndrome 19	Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypog...	OMIM:615996
Perching Syndrome	Cyanosis	OMIM:617055
Genitopalatocardiac Syndrome	Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the...	OMIM:231060
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Ventricular septal defect, Hepatic fibrosis	ORPHA:306550
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Ventricular septal defect, Cutis marmorata, Short neck, Cryptorchidism, Patent ductus arteriosus,...	OMIM:612938
Megabladder, Congenital	Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ...	OMIM:618719
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Neurooculocardiogenitourinary Syndrome	Redundant neck skin, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Patent du...	OMIM:618652
X-Linked Lissencephaly With Abnormal Genitalia	Death in infancy, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hypohidros...	ORPHA:452
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Short neck, Elevated circulating thyroid-stimulating hormone concentra...	OMIM:612462
Igg4-Related Aortitis	Thoracic aortic aneurysm, Hypereosinophilia, Abnormal aortic arch morphology, Ascending tubular a...	ORPHA:449400
Ventricular Septal Defect 3	Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:614432
Classic Glucose Transporter Type 1 Deficiency Syndrome	Abnormal erythrocyte morphology, Cyanosis	ORPHA:71277
Phaver Syndrome	Ventricular septal defect, Myelomeningocele, Hypoplastic aortic arch, Coarctation of aorta, Pulmo...	ORPHA:2876
Hypoparathyroidism, X-Linked	Abnormality of the neck, Congenital hypoparathyroidism	OMIM:307700
Atrial Septal Defect 4	Atrial septal defect, Patent foramen ovale, Coarctation of aorta	OMIM:611363
Noonan Syndrome 9	Ventricular septal defect, Short neck, Cryptorchidism, Coarctation of aorta, Pulmonic stenosis, W...	OMIM:616559
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Increased...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Increased...	ORPHA:352665
Noonan Syndrome 8	Ventricular septal defect, Short neck, Cryptorchidism, Patent ductus arteriosus, Palmoplantar cut...	OMIM:615355
Branchiootic Syndrome 3	Branchial cyst	OMIM:608389
Grange Syndrome	Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis	ORPHA:79094
Encephalocraniocutaneous Lipomatosis	Coarctation of aorta, Abnormal aortic morphology, Tricuspid valve prolapse, Interrupted aortic ar...	ORPHA:2396
16P13.11 Microduplication Syndrome	Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept...	ORPHA:261243
Aortic Aneurysm, Familial Thoracic 6	Thoracic aortic aneurysm, Descending aortic dissection, Livedo reticularis, Premature coronary ar...	OMIM:611788
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Jaundice, Ventricular septal defect, Death in infancy	OMIM:614876
Branchiootic Syndrome 1	Branchial fistula	OMIM:602588
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Low posterior hairline, Pulm...	OMIM:179613
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Diabetes mellitus, Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Patent ductu...	ORPHA:500159
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Short neck, Pseudohypoparathyroidism, Elevated circulating parathyroid...	OMIM:103580
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart, Short neck	ORPHA:2001
Microphthalmia, Syndromic 9	Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Cryptorchidism, Patent ductu...	OMIM:601186
Right Atrial Isomerism	Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera...	OMIM:208530
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Thickened nuchal skin fold, Short neck, Simplified gyral pattern, Lissencephaly, Cyanotic episode	ORPHA:284417
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Hypoplastic Left Heart Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta	OMIM:241550
8P23.1 Microdeletion Syndrome	Short neck, Cryptorchidism, Pulmonary artery stenosis, Patent ductus arteriosus, Hypertrophic car...	ORPHA:251071
Coenzyme Q10 Deficiency, Primary, 7	Hypertrophic cardiomyopathy, Patent ductus arteriosus, Hypoplastic left heart, Ventricular septal...	OMIM:616276
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Mesenteric cyst, Atrial septal defect, Ventricular septal defect, Parachute mitral valve, Cryptor...	OMIM:618316
14Q11.2 Microdeletion Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:261120
Methimazole Embryofetopathy	Ventricular septal defect, Abnormality of the thyroid gland, Coarctation of aorta, Abnormal aorti...	ORPHA:1923
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation	Right aortic arch with mirror image branching	OMIM:107500
Alg3-Cdg	Abnormality of the endocrine system, Neural tube defect, Cardiomyopathy, Coarctation of the desce...	ORPHA:79321
Fanconi Anemia, Complementation Group B	Death in infancy, Hypergonadotropic hypogonadism, Aplastic anemia, Ventricular septal defect, Sho...	OMIM:300514
Aortic Aneurysm, Familial Thoracic 7	Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture	OMIM:613780
Absence Of The Pulmonary Artery	Cyanosis, Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Coarctatio...	ORPHA:980
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Ventricular septal defect, Cryptorchidism, Increased nuchal translucency, Patent foramen ovale, C...	OMIM:618494
Treacher-Collins Syndrome	Encephalocele, Branchial fistula, Cryptorchidism, Patent ductus arteriosus, Abnormality of the ad...	ORPHA:861
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Cyanosis, Splenomegaly, Chylopericardium, Pulmonic stenosis	ORPHA:2414
Distal 22Q11.2 Microdeletion Syndrome	Branchial fistula, Ventricular septal defect, Atrial septal defect, Truncus arteriosus, Aortic an...	ORPHA:261330
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Hydranencephaly, Truncus arteriosus, Ventricular septal defect, Webbed neck	OMIM:601355
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec...	ORPHA:1686
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morphology, Abnormal ...	ORPHA:2306
Phosphoserine Aminotransferase Deficiency	Death in infancy, Cyanotic episode	OMIM:610992
Chiari Malformation Type Ii	Cyanosis, Spina bifida, Myelomeningocele, Gray matter heterotopia, Cervical myelopathy	OMIM:207950
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Hypertrophic cardiomyopathy, Cyanosis	ORPHA:91130
Branchiogenic Deafness Syndrome	Branchial cyst, Branchial fistula	ORPHA:50815
Atrial Septal Defect 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept...	OMIM:607941
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Decreased response to growth hormone stimulation test, Adrenal hypopla...	OMIM:220210
14Q24.1Q24.3 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect, Cryptorchidism, Abnormal heart morphology, Pulmo...	ORPHA:401935
Noonan Syndrome 2	Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Short neck, Cryptorc...	OMIM:605275
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Cryptorchidism, Patent ductus arteriosus, Coarctation of aorta, Normochromic anemia, Neutropenia,...	OMIM:614857
Congenital Fibrinogen Deficiency	Cyanosis, Hemorrhagic ovarian cyst, Splenic rupture, Left ventricular hypertrophy, Bruising susce...	ORPHA:335
Congenital Heart Defects, Multiple Types, 2	Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul...	OMIM:614980
Holt-Oram Syndrome	Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ...	ORPHA:392
Li-Ghorbani-Weisz-Hubshman Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Periventricular hetero...	OMIM:618974
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arterios...	ORPHA:284169
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, Cardiomegaly, Cutis ma...	ORPHA:91387
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology, Anemia	ORPHA:3405
Pseudohypoparathyroidism, Type Ii	Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism	OMIM:203330
Cardiac Valvular Dysplasia 1	Atrial septal defect, Cyanosis, Ventricular septal defect, Left atrial enlargement, Tricuspid ste...	OMIM:212093
Seizures, Benign Familial Infantile, 3	Cyanosis	OMIM:607745
Seizures, Benign Familial Infantile, 1	Cyanosis	OMIM:601764
Noonan Syndrome 10	Ventricular septal defect, Short neck, Cryptorchidism, Increased nuchal translucency, Patent duct...	OMIM:616564
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Abdominal situs inversus,...	OMIM:614779
Breath-Holding Spells	Iron deficiency anemia, Cyanosis	OMIM:607578
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater...	OMIM:617205
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal tricuspid valve morphology, Abnormal left ventricular outflow tr...	ORPHA:216694
De Barsy Syndrome	Delayed eruption of teeth, Ventricular septal defect, Progeroid facial appearance, Cryptorchidism...	ORPHA:2962
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Ventricular septal defect, Persistence of primary teeth, Patent ductus arteriosus, Persistence of...	OMIM:619769
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Primary Pulmonary Hypoplasia	Cyanosis, Dextrocardia, Secundum atrial septal defect, Hypoxemia, Abnormal pulmonary artery morph...	ORPHA:2257
Partial Atrioventricular Septal Defect	Transient ischemic attack, Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventri...	ORPHA:1330
Aortic Arch Interruption	Cyanosis, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valv...	ORPHA:2299
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Redundant neck skin, Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent duct...	ORPHA:2519
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Coarcta...	ORPHA:3092
Aicardi-Goutieres Syndrome 1	Hepatomegaly, Diabetes insipidus, Petechiae, Splenomegaly, Vasculitis, Erythema, Cardiomyopathy, ...	OMIM:225750
8Q24.3 Microdeletion Syndrome	Branchial cyst, Ectopic posterior pituitary, Ventricular septal defect, Short neck, Dysplastic ao...	ORPHA:508488
Adams-Oliver Syndrome 6	Ventricular septal defect, Cutis marmorata, Portal hypertension, Splenomegaly, Hepatic fibrosis, ...	OMIM:616589
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Atrioventricular ...	ORPHA:210122
Pagod Syndrome	Encephalocele, Death in infancy, Spina bifida, Situs inversus totalis, Abnormality of the spleen,...	ORPHA:991
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo...	OMIM:604169
Neuralgic Amyotrophy	Acrocyanosis	ORPHA:2901
Distal 22Q11.2 Microduplication Syndrome	Branchial fistula, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Low poste...	ORPHA:261337
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Thickened nuchal skin fold, Redundant neck skin, Mitral atresia, Patent ductus arteriosus, Coarct...	OMIM:618164
Noonan Syndrome 12	Ventricular septal defect, Decreased response to growth hormone stimulation test, Tetralogy of Fa...	OMIM:618624
Congenital Tracheomalacia	Cyanosis, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pu...	ORPHA:95430
Scimitar Syndrome	Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa...	ORPHA:185
Tetrasomy 15Q26	Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch	OMIM:614846
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Natal tooth, Absent nipple, Aplasia of the thymus, Patent foramen ovale, Congenit...	OMIM:620186
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Patent ductus arteriosus, ...	OMIM:612561
Global Developmental Delay With Or Without Impaired Intellectual Development	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:618330
Buerger Disease	Acrocyanosis, Vasculitis, Hyperhidrosis	ORPHA:36258
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Ventricular septal defect, Short neck, Cryptorchidism, Patent ductus arteriosus, Hypoplastic aort...	OMIM:617506
Pseudohypoparathyroidism, Type Ib	Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism	OMIM:603233
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Thoracic aortic aneurysm, Ventricular septal defect, Dextrocardia, Asplenia, Patent ductus arteri...	OMIM:619657
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:617992
Skraban-Deardorff Syndrome	Right aortic arch, Ventricular septal defect	OMIM:617616
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Premature thelarche, Coar...	ORPHA:371428
Meacham Syndrome	Ventricular septal defect, Situs inversus totalis, Abnormality of the spleen, Patent ductus arter...	ORPHA:3097
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Pancytopenia, Death in infancy, Ventricular septal defect, Abnormal cortical gyrati...	OMIM:614576
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Dextrocardia, Supernumerary nipple, Periventricular heterotopia, Cryptorchidism, Low posterior ha...	OMIM:618929
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran...	OMIM:217095
Ritscher-Schinzel Syndrome 2	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Low posterior hairline, Pulm...	OMIM:300963
Oligomeganephronia	Branchial cyst, Secundum atrial septal defect, Pulmonary venous occlusion	ORPHA:2260
Char Syndrome	Ventricular septal defect, Supernumerary nipple, Persistence of primary teeth, No permanent denti...	ORPHA:46627
Lethal Congenital Contracture Syndrome 10	Torticollis, Stiff neck, Overriding aorta, Ventricular septal defect, Short neck, Cardiomegaly, H...	OMIM:617022
Spinal Muscular Atrophy, Type I	Atrial septal defect, Ventricular septal defect, Death in childhood	OMIM:253300
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ...	OMIM:617021
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Ventricular septal defect, Pulmonary artery stenosis, Abnormality of the anterior pituitary, Post...	ORPHA:75389
Aortic Aneurysm, Familial Thoracic 8	Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor...	OMIM:615436
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Atria...	ORPHA:329224
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Ventricular septal defect, Vascular ring, Atrial septal defect, Pachygyria, Polymicrogyria	OMIM:603387
Branchiootic Syndrome	Branchial fistula	ORPHA:52429
Microsporidiosis	Cholangitis, Abnormality of the spleen, Abnormality of the parathyroid gland, Peritonitis, Biliar...	ORPHA:2552
Aortic Aneurysm, Familial Thoracic 9	Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity, Mitral valve prolapse	OMIM:616166
Hadziselimovic Syndrome	Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Pulmonary artery atresi...	OMIM:612946
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
22Q11.2 Deletion Syndrome	Short neck, Abnormal aortic arch morphology, Hypoplasia of the thymus, Atrial septal defect, Hypo...	ORPHA:567
Thymic Neuroendocrine Tumor	Pancreatic islet cell adenoma, Pituitary null cell adenoma, Chronic noninfectious lymphadenopathy...	ORPHA:97289
Distal Deletion 15Q	Decreased serum insulin-like growth factor 1, Bicuspid aortic valve, Mitral atresia, Double outle...	ORPHA:1596
Hereditary Methemoglobinemia	Cyanosis, Methemoglobinemia	ORPHA:621
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Varicose veins, Patent ductus arteriosus, Peripheral arterial stenosis, Ventricular septal defect	OMIM:126320
Bor Syndrome	Branchial cyst	ORPHA:107
Intellectual Developmental Disorder, Autosomal Dominant 48	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Pol...	OMIM:617751
Fryns Syndrome	Thickened nuchal skin fold, Short neck, Cryptorchidism, Abnormal aortic arch morphology, Abnormal...	ORPHA:2059
Stankiewicz-Isidor Syndrome	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pineal cyst, Truncus arteriosus	OMIM:617516
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Cryptorchidism, ...	OMIM:613834
8P23.1 Duplication Syndrome	Ventricular septal defect, Tetralogy of Fallot, Adrenal insufficiency, Pulmonic stenosis	ORPHA:251076
Familial Cerebral Saccular Aneurysm	Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh...	ORPHA:231160
Pallister-Hall Syndrome	Thyroid dysgenesis, Natal tooth, Decreased circulating cortisol level, Ventricular septal defect,...	OMIM:146510
Cardiac Valvular Dysplasia 2	Bicuspid aortic valve, Ascending tubular aorta aneurysm, Central cyanosis, Pulmonic stenosis, Sub...	OMIM:620067
Sifrim-Hitz-Weiss Syndrome	Hypogonadotropic hypogonadism, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosu...	OMIM:617159
Fibromuscular Dysplasia, Arterial	Arterial fibromuscular dysplasia, Stroke, Aortic dissection	OMIM:135580
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Diabetes mellitus, Ventricular septal defect, Situs inversus totalis, Thiam...	OMIM:249270
Eng-Strom Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:1937
Benign Familial Infantile Epilepsy	Cyanosis	ORPHA:306
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Atrial septal defect, Frontal polymicrogyria, Ventricular septal defect, Cryptorchidism, Patent d...	OMIM:620024
Distal Triplication 15Q	Patent ductus arteriosus, Hypoplastic aortic arch, Abnormal heart morphology, Hydrocele testis, A...	ORPHA:314588
Chondrodysplasia, Blomstrand Type	Stillbirth, Preductal coarctation of the aorta	OMIM:215045
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Atrial septal defect, Hypergonadotropic hypogonadism, Decreased response to growth ...	OMIM:602782
Craniofaciofrontodigital Syndrome	Prominent superficial veins, Anomalous branches of internal carotid artery, Bicuspid aortic valve...	ORPHA:363705
Calciphylaxis	Cutis marmorata, Arterial calcification, Secondary hyperparathyroidism	ORPHA:280062
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology	ORPHA:1110
Pseudotrisomy 13 Syndrome	Encephalocele, Ventricular septal defect, Dextrocardia, Adrenal hypoplasia, Cryptorchidism, Compl...	OMIM:264480
Kapur-Toriello Syndrome	Ventricular septal defect, Short neck, Cryptorchidism, Patent ductus arteriosus, Low posterior ha...	OMIM:244300
Isolated Klippel-Feil Syndrome	Congenital muscular torticollis, Ventricular septal defect, Spina bifida, Short neck, Low posteri...	ORPHA:2345
Zollinger-Ellison Syndrome	Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ...	ORPHA:913
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Atrial septal defect, Pancreatic fibrosis, Malformation of the hepatic ductal plate...	OMIM:208540
Acrocardiofacial Syndrome	Death in infancy, Hyperthyroidism, Mitral stenosis, Ventricular septal defect, Cryptorchidism, Co...	ORPHA:2008
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta	OMIM:212090
Chromosome 5Q12 Deletion Syndrome	Ventricular septal defect, Short neck, Increased nuchal translucency, Patent ductus arteriosus, A...	OMIM:615668
Phosphoribosylpyrophosphate Synthetase Superactivity	Cardiomyopathy, Abnormal aortic morphology	ORPHA:3222
Timothy Syndrome	Ventricular septal defect, Cardiomegaly, Hypothyroidism, Patent ductus arteriosus, Tetralogy of F...	OMIM:601005
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect	OMIM:617044
Chromosome 18Q Deletion Syndrome	Absence of the pulmonary valve, Decreased response to growth hormone stimulation test, Ventricula...	OMIM:601808
Carpenter Syndrome 1	Ventricular septal defect, Short neck, Persistence of primary teeth, Cryptorchidism, Patent ductu...	OMIM:201000
Mmep Syndrome	Cryptorchidism, Ventricular septal defect	ORPHA:3434
Microphthalmia, Syndromic 12	Neonatal death, Cryptorchidism, Hypoplastic left atrium, Ventricular septal defect	OMIM:615524
Mosaic Trisomy 16	Ventricular septal defect, Maternal diabetes, Large placenta, Patent ductus arteriosus, Coarctati...	ORPHA:1708
Malignant Migrating Focal Seizures Of Infancy	Precocious puberty, Aortopulmonary collateral arteries	ORPHA:293181
Congenital Tracheal Stenosis	Cyanosis, Ventricular septal defect, Ascending aorta hypoplasia, Patent ductus arteriosus, Hypopl...	ORPHA:141127
Kapur-Toriello Syndrome	Ventricular septal defect, Short neck, Patent ductus arteriosus, Tetralogy of Fallot, Pachygyria,...	ORPHA:2328
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Ventricular septal defect, Hypoplastic right heart, Patent ductus arteriosus, Lissencephaly, Atri...	OMIM:618142
Meckel Syndrome 14	Occipital encephalocele, Cyanosis, Short neck, Increased nuchal translucency, Hepatic fibrosis, S...	OMIM:619879
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Cryptorchidism, Absent pulmonary artery, Patent ductus arteriosus, Coa...	OMIM:600460
Asbestos Intoxication	Cyanosis, Mediastinal lymphadenopathy, Cor pulmonale, Myocardial fibrosis, Hypoxemia, Oxygen desa...	ORPHA:2302
Heterotaxy, Visceral, 5, Autosomal	Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Asplenia, ...	OMIM:270100
Pseudohypoparathyroidism Type 1B	Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Short neck, Pse...	ORPHA:94089
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Ventricular septal defect, Situs inversus totalis, Meningocele, Anencephaly, Spina...	ORPHA:1908
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diabetes mellitus, Ventricular septal defect, Megaloblastic anemia, Stroke, Atrial septal defect,...	ORPHA:49827
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Peritonitis, Vasculitis, Erythema, Lymphadenopathy, Urticaria, Acrocyanosis, Purpura	ORPHA:343
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Lateral Meningocele Syndrome	Bicuspid aortic valve, Ventricular septal defect, Short neck, Cryptorchidism, Patent ductus arter...	OMIM:130720
Dravet Syndrome	Limited neck range of motion, Cyanotic episode	ORPHA:33069
Hyperparathyroidism 2 With Jaw Tumors	Hyperparathyroidism, Pancreatic adenocarcinoma, Hurthle cell thyroid adenoma, Parathyroid carcino...	OMIM:145001
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Thickened nuchal skin fold, Hepatomegaly, Death in infancy, Redundant neck skin, Ventricular sept...	OMIM:235255
Monosomy 18Q	Absence of the pulmonary valve, Bilateral cryptorchidism, Left aortic arch with right descending ...	ORPHA:1600
Syndromic Diarrhea	Hepatomegaly, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Increased m...	ORPHA:84064
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Death in infancy, Ventricular septal defect, Cryptorchidism, Neonatal death	OMIM:613730
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen...	OMIM:301068
Craniofacial Dyssynostosis With Short Stature	Cryptorchidism, Patent ductus arteriosus, Ventricular septal defect	OMIM:218350
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cyanosis, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Ab...	ORPHA:555874
Catel-Manzke Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:1388
Recombinant 8 Syndrome	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pulmonary artery stenosis, L...	ORPHA:96167
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
2Q37 Microdeletion Syndrome	Umbilical hernia, Abnormal aortic morphology, Supernumerary nipple, Short neck	ORPHA:1001
Mosaic Trisomy 9	Ventricular septal defect, Dextrocardia, Spina bifida, Short neck, Asplenia, Cryptorchidism, Pate...	ORPHA:99776
Prune Belly Syndrome	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Atrial septal defect, Tetral...	ORPHA:2970
Fg Syndrome Type 1	Facial wrinkling, Cryptorchidism, Coarctation of aorta, Mitral valve prolapse, Small pituitary gl...	ORPHA:93932
Chromosome 6Pter-P24 Deletion Syndrome	Ventricular septal defect, Short neck, Patent ductus arteriosus, Telangiectasia, Atrial septal de...	OMIM:612582
Transketolase Deficiency	Hepatomegaly, Atrial septal defect, Ventricular septal defect, Abnormal coronary artery course, P...	ORPHA:488618
3C Syndrome	Death in infancy, Ventricular septal defect, Abnormal mitral valve morphology, Adrenal hypoplasia...	ORPHA:7
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Delayed eruption of permanent teeth, Ventricular septal defect	OMIM:618506
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Ventricular septal defect, Periventricular heterotopia, Increased nuchal translucency, Patent duc...	OMIM:618870
Oculoectodermal Syndrome	Transient ischemic attack, Supernumerary nipple, Short neck, Patent ductus arteriosus, Coarctatio...	OMIM:600268
Emanuel Syndrome	Thickened nuchal skin fold, Torticollis, Ventricular septal defect, Delayed eruption of primary t...	OMIM:609029
Meckel Syndrome, Type 4	Encephalocele, Ventricular septal defect, Meningocele, Anencephaly, Bile duct proliferation, Atri...	OMIM:611134
Maffucci Syndrome	Neoplasm of the adrenal cortex, Neoplasm of the parathyroid gland, Pituitary adenoma, Ovarian neo...	ORPHA:163634
Alagille Syndrome	Hepatomegaly, Ventricular septal defect, Telangiectasia of the skin, Cryptorchidism, Cholestasis,...	ORPHA:52
Hypoadrenocorticism, Familial	Cyanosis, Adrenal insufficiency, Adrenal hypoplasia	OMIM:240200
Methemoglobinemia And Ambiguous Genitalia	Decreased circulating dehydroepiandrosterone-sulfate concentration, Cyanosis, Methemoglobinemia, ...	OMIM:250790
Tuberous Sclerosis Complex	Pancreatic endocrine tumor, Pituitary adenoma, Parathyroid hyperplasia, Cardiac rhabdomyoma, Pulm...	ORPHA:805
Trisomy 13	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Atrial septal defect, Cystic...	ORPHA:3378
Intellectual Developmental Disorder, Autosomal Dominant 47	Cryptorchidism, Increased nuchal translucency, Ventricular septal defect, Supernumerary nipple	OMIM:617635
Pulmonary Arteriovenous Malformation	Liver abscess, Transient ischemic attack, Cyanosis, Pulmonary arteriovenous fistulas, Telangiecta...	ORPHA:2038
Familial Isolated Hypoparathyroidism	Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Dela...	ORPHA:2238
Aortic Valve Disease 2	Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Coarctation of aorta, As...	OMIM:614823
Cardiofaciocutaneous Syndrome 3	Ventricular septal defect, Short neck, Hyperhidrosis, Pulmonic stenosis, Webbed neck, Atrial sept...	OMIM:615279
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Ventricular septal defect, Hypoplastic left heart, Anencephaly, Spina bifida	ORPHA:2476
Hypermethioninemia Due To Adenosine Kinase Deficiency	Secundum atrial septal defect, Cholestasis, Coarctation of aorta, Portal fibrosis, Pulmonic steno...	OMIM:614300
Criss-Cross Heart	Cyanosis, Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pul...	ORPHA:1461
Sonoda Syndrome	Ventricular septal defect	OMIM:270460
Inflammatory Skin And Bowel Disease, Neonatal, 2	Coarctation of aorta	OMIM:616069
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Meckel Syndrome, Type 7	Portal hypertension, Pancreatic cysts, Situs inversus totalis, Patent ductus arteriosus, Biliary ...	OMIM:267010
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Giant cell hepatitis, Death in infancy, Ventricular septal defect, Hepatic melanin-like lysosomal...	OMIM:208085
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Decreased response to growth hormone stimulation test, Short neck, Pat...	OMIM:609053
Atelis Syndrome 1	Ventricular septal defect, Anemia, Leukopenia, Atrial septal defect, Hypothyroidism, Thrombocytop...	OMIM:620184
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Arterial Tortuosity Syndrome	Ventricular hypertrophy, Carotid artery dissection, Progeroid facial appearance, Pulmonary artery...	OMIM:208050
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t...	ORPHA:652
Right Pulmonary Artery, Anomalous Origin Of, Familial	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ...	OMIM:610338
Interstitial Pneumonitis, Desquamative, Familial	Cyanosis, Cor pulmonale	OMIM:263000
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt...	ORPHA:231222
King-Denborough Syndrome	Ventricular septal defect, Short neck, Bilateral cryptorchidism, Cryptorchidism, Webbed neck	OMIM:619542
Myopathy With Extrapyramidal Signs	Hepatomegaly, Ventricular septal defect, Short neck, Splenomegaly, Leukocytosis, Perisylvian poly...	OMIM:615673
Autoimmune Pulmonary Alveolar Proteinosis	Hypoxemia, Foam cells, Cyanosis	ORPHA:747
Joubert Syndrome 18	Occipital encephalocele, Ventricular septal defect, Intrahepatic biliary atresia	OMIM:614815
Microlissencephaly-Micromelia Syndrome	Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Liss...	ORPHA:50810
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Ventricular septal defect, Dextrocardia, Short neck, Cryptorchidism, Coronary ...	OMIM:614294
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cyanosis, Cardiomegaly	ORPHA:391428
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Branchial anomaly	ORPHA:466950
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo...	ORPHA:261183
Loeys-Dietz Syndrome 4	Torticollis, Bicuspid aortic valve, Arterial tortuosity, Mitral valve prolapse, Ascending tubular...	OMIM:614816
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Abnormal parathyroid...	ORPHA:99880
Eisenmenger Syndrome	Hepatomegaly, Cyanosis, Ventricular septal defect, Patent ductus arteriosus, Hypochromic microcyt...	ORPHA:97214
Down Syndrome	Thickened nuchal skin fold, Redundant neck skin, Ventricular septal defect, Atrioventricular cana...	OMIM:190685
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To	Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm	OMIM:617349
Autoimmune Polyendocrinopathy Type 2	Hypoparathyroidism, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hypogonadism...	ORPHA:3143
Pentalogy Of Cantrell	Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, An...	ORPHA:1335
High Altitude Pulmonary Edema	Hypoxemia, Leukocytosis, Cyanosis	ORPHA:330012
Phace Syndrome	Cerebral arteriovenous malformation, Coarctation of aorta, Abnormal heart morphology, Aortic root...	ORPHA:42775
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Hepatomegaly, Redundant neck skin, Ventricular septal defect, Cryptorchidism, Leukopenia, Pulmoni...	OMIM:301056
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Ventricular septal defect, Short neck, Bilateral cryptorchidism, Patent ductus arteriosus, Broad ...	OMIM:300472
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Abnormal parathyroid...	ORPHA:143
Myofibrillar Myopathy 11	Coarctation of aorta	OMIM:619178
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Atrial septal defect, Cryptorchidism, Aortic root aneurysm, Ventricular septal defect	OMIM:301039
Teebi Hypertelorism Syndrome 1	Natal tooth, Ventricular septal defect, Hydrocele testis, Aortic root aneurysm, Atrial septal defect	OMIM:145420
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Ventricular septal defect, Abnormal...	ORPHA:209905
Lowry-Maclean Syndrome	Delayed eruption of primary teeth, Bilateral cryptorchidism, Abnormality of the abdominal organs,...	ORPHA:2409
Contractural Arachnodactyly, Congenital	Bicuspid aortic valve, Ventricular septal defect, Short neck, Patent ductus arteriosus, Mitral va...	OMIM:121050
Opitz Gbbb Syndrome	Natal tooth, Enlarged ovaries, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosu...	ORPHA:2745
Pseudohypoparathyroidism Type 1C	Delayed eruption of teeth, Hypergonadotropic hypogonadism, Decreased response to growth hormone s...	ORPHA:79444
Trisomy 1Q	Ventricular septal defect, Cryptorchidism, Increased nuchal translucency, Patent ductus arteriosu...	ORPHA:261344
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Adrenal hyperplasia, Abnormal cerebral vascular morphology, Primary adrenal i...	ORPHA:3453
Noonan Syndrome 3	Juvenile myelomonocytic leukemia, Ventricular septal defect, Cryptorchidism, Patent ductus arteri...	OMIM:609942
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Leukemia, Polymicrogyria, Ventricular septal defect, Cutis marmorata	OMIM:602501
Nemaline Myopathy 9	Ventricular septal defect	OMIM:615731
Cryptogenic Organizing Pneumonia	Hypoxemia, Leukocytosis, Neutrophilia, Cyanosis	ORPHA:1302
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ventricular septal defect, Short neck, Cryptorchidism, Abnormal heart morphology, Umbilical herni...	ORPHA:369891
Isolated Right Ventricular Hypoplasia	Cyanosis, Cardiomegaly, Muscular ventricular septal defect, Hypoxemia, Atrial septal defect, Pate...	ORPHA:439
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta, Perimembranous ve...	OMIM:600987
Multifocal Atrial Tachycardia	Ventricular septal defect, Cryptorchidism, Hypothyroidism, Pulmonic stenosis, Atrial septal defec...	ORPHA:3282
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Medial calcification of large arteries, Transient ischemic attack, Adren...	ORPHA:51608
Feingold Syndrome Type 2	Ventricular septal defect	ORPHA:391646
Acute Interstitial Pneumonia	Cyanosis, Pericardial effusion, Lymphadenopathy, Hypoxemia, Reduced hematocrit	ORPHA:79126
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Congenital hypoparathyroidism, Parathyroid agenesis	ORPHA:2239
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:613870
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Cryptorchidism, Ventricular septal defect, Hypoplastic left heart, Abnormality of neuronal migration	ORPHA:2772
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Cyanosis, Transient ischemic attack, Pulmonary arteriovenous malform...	OMIM:610655
Mosaic Variegated Aneuploidy Syndrome 2	Ventricular septal defect, Decreased response to growth hormone stimulation test, Coarctation of ...	OMIM:614114
Emanuel Syndrome	Delayed eruption of teeth, Redundant neck skin, Ventricular septal defect, Cryptorchidism, Patent...	ORPHA:96170
Zellweger Syndrome	Thickened nuchal skin fold, Hepatomegaly, Death in infancy, Ventricular septal defect, Cryptorchi...	ORPHA:912
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Torticollis, Spina bifida, Cyst of the ductus choledochus, Patent ductus arteriosus, Coarctation ...	OMIM:619480
Kagami-Ogata Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Pulmonic stenosi...	OMIM:608149
Multiple Endocrine Neoplasia Type 2	Reduced subcutaneous adipose tissue, Paraganglioma of head and neck, Thyroid C cell hyperplasia, ...	ORPHA:653
Sepsis In Premature Infants	Hepatomegaly, Cyanosis, Petechiae, Splenomegaly, Jaundice, Leukocytosis, Thrombocytopenia, Neutro...	ORPHA:90051
Microphthalmia, Syndromic 2	Delayed eruption of teeth, Ventricular septal defect, Dextrocardia, Persistence of primary teeth,...	OMIM:300166
Acquired Methemoglobinemia	Hypoxemia, Cyanosis, Methemoglobinemia	ORPHA:464453
Pelger-Huet Anomaly	Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia...	OMIM:169400
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a...	OMIM:600376
20Q13.33 Microdeletion Syndrome	Atrial septal defect, Dilation of Virchow-Robin spaces, Hypoplastic aortic arch, Abnormal cardiac...	ORPHA:261311
Suleiman-El-Hattab Syndrome	Ventricular septal defect, Cryptorchidism, Webbed neck, Atrial septal defect, Patent foramen ovale	OMIM:618950
Periventricular Nodular Heterotopia 7	Ventricular septal defect, Cryptorchidism, Gray matter heterotopia, Periventricular nodular heter...	OMIM:617201
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,...	ORPHA:231226
Tetrasomy 5P	Redundant neck skin, Cyanosis, Short neck	ORPHA:3309
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Ventricular septal defect, Left ventricular hypertrophy, Secundum atrial septal defect, Subvalvul...	OMIM:108900
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Patent ductus arteriosus, Mitral stenosis, Decreased response to growth hormone stimulation test,...	OMIM:617260
Multiple Endocrine Neoplasia, Type Iib	Pheochromocytoma, Elevated circulating calcitonin concentration, Parathyroid hyperplasia, Nodular...	OMIM:162300
Klippel-Feil Syndrome 2, Autosomal Recessive	Limited neck range of motion, Ventricular septal defect, Low posterior hairline, Short neck	OMIM:214300
Jacobsen Syndrome	Death in infancy, Ventricular septal defect, Spina bifida, Short neck, Cryptorchidism, Coarctatio...	ORPHA:2308
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Natal tooth, Ventricular septal defect, Short neck, Splenomegaly, Patent ductus art...	OMIM:269860
Sotos Syndrome	Atrial septal defect, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Muscul...	OMIM:117550
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Patent foramen ovale, Abnorma...	ORPHA:477817
Ogden Syndrome	Cryptorchidism, Pulmonary artery stenosis, Ventricular septal defect, Torticollis	ORPHA:276432
Pseudohypoparathyroidism Type 2	Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism	ORPHA:94090
Hypotonia, Infantile, With Psychomotor Retardation	Cryptorchidism, Ventricular septal defect	OMIM:616816
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Redundant neck skin, Ventricular septal defect, Ad...	OMIM:214100
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Giant cell hepatitis, Hepatomegaly, Death in infancy, Ventricular septal defect, Nephrogenic diab...	OMIM:613404
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventricular septal defect, Cardiomega...	OMIM:614921
Hypophosphatemic Rickets And Hyperparathyroidism	Parathyroid hyperplasia, Hyperparathyroidism, Elevated circulating parathyroid hormone level	OMIM:612089
Poems Syndrome	Diabetes mellitus, Polycythemia, Abnormality of the endocrine system, Pericardial effusion, Prima...	ORPHA:2905
Congenital Heart Defects And Skeletal Malformations Syndrome	Ventricular septal defect, Cutis marmorata, Cryptorchidism, Coarctation of aorta, Aortic root ane...	OMIM:617602
Postsynaptic Congenital Myasthenic Syndromes	Cyanosis	ORPHA:98913
Oculoauriculofrontonasal Syndrome	Encephalocele, Ventricular septal defect	ORPHA:398156
Cat Eye Syndrome	Ventricular septal defect, Patent ductus arteriosus, Biliary atresia, Hypoplastic left heart, Tot...	OMIM:115470
Inverted Duplicated Chromosome 15 Syndrome	Ventricular septal defect, Precocious puberty, Cryptorchidism, Hypogonadism, Tetralogy of Fallot	ORPHA:3306
Thrombocytopenia-Absent Radius Syndrome	Death in infancy, Ventricular septal defect, Eosinophilia, Spina bifida, Pancreatic cysts, Thromb...	OMIM:274000
Diaphragmatic Hernia 4, With Cardiovascular Defects	Hepatomegaly, Ventricular septal defect, Aortopulmonary collateral arteries, Cryptorchidism, Aort...	OMIM:620025
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Ectodermal dysplasia, Patent ductus arteriosus, Ventricular septal defect, Supernumerary nipple	OMIM:106260
Adams-Oliver Syndrome 1	Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Cutis marm...	OMIM:100300
Esophageal Atresia	Cyanosis, Ventricular septal defect, Maternal diabetes, Coarctation of aorta, Tetralogy of Fallot	ORPHA:1199
Developmental And Epileptic Encephalopathy 66	Ventricular septal defect, Dextrocardia, Cryptorchidism, Neutropenia, Atrial septal defect, Anemia	OMIM:618067
Developmental Delay With Or Without Dysmorphic Facies And Autism	Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Coarct...	OMIM:618454
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect	OMIM:608227
Combined Oxidative Phosphorylation Defect Type 23	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Cyanosis, Right ventricular hypertrophy	ORPHA:444013
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Thickened nuchal skin fold, Atrial septal defect, Patent ductus arteriosus, Ventricular septal de...	OMIM:220500
Kleefstra Syndrome	Delayed eruption of teeth, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple...	ORPHA:261494
Hyperparathyroidism, Transient Neonatal	Hyperparathyroidism, Patent ductus arteriosus, Ovarian cyst, Stroke, Splenic cyst, Umbilical hernia	OMIM:618188
Pulmonary Alveolar Microlithiasis	Hepatomegaly, Mitral valve calcification, Cyanosis, Calcification of the aorta, Hypoxemia, Testic...	ORPHA:60025
Hutchinson-Gilford Progeria Syndrome	Prominent superficial blood vessels, Intracranial hemorrhage, Generalized abnormality of skin, Pe...	ORPHA:740
Hereditary Bullous Dystrophy, Macular Type	Cryptorchidism, Acrocyanosis, Decreased testicular size, Abnormal heart morphology	ORPHA:1867
Fanconi Anemia	Leukopenia, Abnormality of the liver, Atrial septal defect, Abnormality of the hypothalamus-pitui...	ORPHA:84
Pulmonary Capillary Hemangiomatosis	Cyanosis, Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy, Hypoxemia, Abnormal...	ORPHA:199241
Aicardi-Goutières Syndrome	Diabetes mellitus, Cutis marmorata, Neonatal alloimmune thrombocytopenia, Cardiomegaly, Moyamoya ...	ORPHA:51
Noonan Syndrome 4	Ventricular septal defect, Short neck, Cryptorchidism, Pulmonic stenosis, Webbed neck, Atrial sep...	OMIM:610733
Pendred Syndrome	Hypothyroidism, Hyperparathyroidism, Thyroid carcinoma, Goiter	ORPHA:705
Toriello-Carey Syndrome	Short neck, Cryptorchidism, Patent ductus arteriosus, Coarctation of aorta, Cardiomyopathy, Abnor...	ORPHA:3338
Craniofacial Microsomia 1	Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Coarctation of aort...	OMIM:164210
Feingold Syndrome 2	Ventricular septal defect	OMIM:614326
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,...	ORPHA:231214
Fucosidosis	Hepatomegaly, Cardiomegaly, Abnormality of the gallbladder, Vascular skin abnormality, Hyperhidro...	ORPHA:349
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia	OMIM:618107
Pseudohypoparathyroidism Type 1A	Delayed eruption of teeth, Hypergonadotropic hypogonadism, Decreased response to growth hormone s...	ORPHA:79443
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis, Methemoglobinemia, Polycythemia	OMIM:250800
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Right aortic arch, Coarctation of aorta	OMIM:140850
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Complete atrioventricular canal defect, Subvalvular aortic stenosis, Coarctation of aorta	OMIM:217085
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ventricular septal defect, Short neck	ORPHA:93267
X-Linked Intellectual Disability, Nascimento Type	Mitral stenosis, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Patent fora...	ORPHA:163956
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Hypertrophic cardiomyopathy, Ventricular septal defect	OMIM:616277
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Thyroid dysgenesis, Ventricular septal defect, Thyroid agenesis, Cryptorchidism, Patent ductus ar...	ORPHA:3047
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Poor wound healing, Mitral valve prolapse, Aortic dissection, Arterial dissection, Umbilical hern...	ORPHA:1900
Kleefstra Syndrome Due To 9Q34 Microdeletion	Cryptorchidism, Tetralogy of Fallot, Conotruncal defect, Coarctation of aorta, Abnormal cardiac s...	ORPHA:96147
Diamond-Blackfan Anemia 10	Macrocytic anemia, Ventricular septal defect, Patent ductus arteriosus, Reticulocytopenia, Steroi...	OMIM:613309
3P25.3 Microdeletion Syndrome	Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Cor...	ORPHA:435638
Eosinophilic Granulomatosis With Polyangiitis	Transient ischemic attack, Eosinophilia, Abnormal pericardium morphology, Cutis marmorata, Myocar...	ORPHA:183
Myasthenia Gravis	Hemolytic anemia, Hyperthyroidism, Pure red cell aplasia, Primary adrenal insufficiency, Hepatiti...	ORPHA:589
19P13.12 Microdeletion Syndrome	Ventricular septal defect, Short neck, Precocious puberty, Cryptorchidism, Hypothyroidism, Atrial...	ORPHA:254346
Roifman Syndrome	Hepatomegaly, Noncompaction cardiomyopathy, Ventricular septal defect, Eosinophilia, Splenomegaly...	OMIM:616651
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Abnormal circulating ren...	ORPHA:369929
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Ventricular septal defect, Decreased response to growth hormone stimulation test, Elevated circul...	OMIM:610978
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Increased hepatic echogenicity, Hepatic steatosis, Cyanosis	OMIM:261680
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Atrial septal defect, Cryptorchidism, Patent ductus arteriosus, Ventricular septal defect	ORPHA:457193
Chromosome 1P36 Deletion Syndrome, Proximal	Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ...	OMIM:619343
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis, Hyperhidrosis	ORPHA:2400
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Redundant neck skin, Ventricular septal defect, Short neck, Splenomegaly, Pancreati...	ORPHA:1655
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Acrocyanosis, Simplified gyral pattern	OMIM:614407
Pontocerebellar Hypoplasia, Type 17	Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:619909
Cranioacrofacial Syndrome	Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Giant Cell Arteritis	Pericarditis, Mediastinal lymphadenopathy, Vasculitis, Hyperhidrosis, Aortic dissection, Diabetes...	ORPHA:397
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Adrenal gland agenesis, Pulmonary artery stenosis, Ventricular septal defect	OMIM:611812
Parathyroid Carcinoma	Hyperparathyroidism, Parathyroid carcinoma	OMIM:608266
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Diamond-Blackfan Anemia 7	Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteri...	OMIM:612562
Charge Syndrome	Decreased response to growth hormone stimulation test, Secundum atrial septal defect, Gonadotropi...	OMIM:214800
Desbuquois Syndrome	Ventricular septal defect, Short neck	ORPHA:1425
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Prominent superficial blood vessels, Right ventr...	OMIM:619472
Benign Familial Neonatal Epilepsy	Circumoral cyanosis	ORPHA:1949
Gaucher Disease, Type Ii	Hepatomegaly, Death in infancy, Double aortic arch, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230900
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Atrial septal defect, Cryptorchidism, Ventricular septal defect, Short neck	OMIM:617452
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Parathyroid hyperplasia, Elevated circulating parathyroid hormone level	OMIM:617994
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hepatomegaly, Atrial septal defect, Redundant neck skin, Miscarriage, Ventricular septal defect, ...	ORPHA:96334
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Patent ductus arteriosus, Ventricular septal defect, Short neck	ORPHA:52055
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal death, Death in infancy, Cyanosis, Misalignment of the pulmonary veins	OMIM:265120
Chromosome 14Q11-Q22 Deletion Syndrome	Unilateral cryptorchidism, Anterior pituitary hypoplasia, Ventricular septal defect, Bilateral cr...	OMIM:613457
Intellectual Developmental Disorder, Autosomal Recessive 79	Ventricular septal defect	OMIM:620393
Atrial Septal Defect, Ostium Primum Type	Cyanosis, Left atrial enlargement, Right ventricular dilatation, Left ventricular hypertrophy, Pu...	ORPHA:99106
Laubry-Pezzi Syndrome	Aortic valve prolapse, Bicuspid aortic valve, Abnormal coronary artery morphology, Ventricular se...	ORPHA:99094
Chronic Pneumonitis Of Infancy	Hypoxemia, Mediastinal lymphadenopathy, Cyanosis	ORPHA:91359
Mosaic Trisomy 1	Hepatic agenesis, Ventricular septal defect, Increased nuchal translucency, Coarctation of aorta,...	ORPHA:1692
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect, Polymicrogyria	ORPHA:83473
Acquired Purpura Fulminans	Intracranial hemorrhage, Acrocyanosis, Thrombocytopenia, Macular purpura	ORPHA:49566
Tarp Syndrome	Extramedullary hematopoiesis, Cyanosis, Cryptorchidism, Atrial septal defect, Tetralogy of Fallot...	ORPHA:2886
Complete Atrioventricular Septal Defect	Hepatomegaly, Cyanosis, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septa...	ORPHA:1329
Lymphedema-Hypoparathyroidism Syndrome	Hypoparathyroidism, Pulmonary lymphangiectasia, Mitral valve prolapse	OMIM:247410
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular septal defect, Sh...	OMIM:163950
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Delayed eruption of teeth, Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymph...	OMIM:235510
Unilateral Polymicrogyria	Cyanosis, Pulmonary arteriovenous malformation, Perisylvian polymicrogyria, Abnormal heart morpho...	ORPHA:268943
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Aortic valve stenosis, Spina bifida occulta, Coarctation of aorta	ORPHA:2780
Encephalocraniocutaneous Lipomatosis	Ventricular septal defect, Subcutaneous lipoma, Cryptorchidism, Subvalvular aortic stenosis, Atri...	OMIM:613001
Filippi Syndrome	Cryptorchidism, Ventricular septal defect	OMIM:272440
Koolen-De Vries Syndrome	Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Gray ...	OMIM:610443
Meckel Syndrome, Type 1	Accessory spleen, Occipital encephalocele, Natal tooth, Malformation of the hepatic ductal plate,...	OMIM:249000
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Bicuspid aortic valve, Ventricular septal defect, Cutis marmorata, Short neck, Cryptorchidism, Pa...	OMIM:610759
Multiple Endocrine Neoplasia, Type Iv	Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo...	OMIM:610755
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Death in infancy, Autoimmune hemolyti...	OMIM:243150
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Dilation of Virchow-Robin spaces, Ventricular septal defect, Bilateral cryptorchidism, Cryptorchi...	OMIM:300998
Autosomal Recessive Robinow Syndrome	Death in infancy, Ventricular septal defect, Abnormal pulmonary valve morphology, Short neck, Cry...	ORPHA:1507
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Cryptorchidism, Patent ductus arteriosus, Ventricular septal defect	ORPHA:77298
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Atrial septal defect, Cryptorchidism, Ventricular septal defect, Short neck	ORPHA:505237
Robinow Syndrome, Autosomal Dominant 3	Hypoplastic right heart, Ventricular septal defect, Short neck, Cryptorchidism, Patent ductus art...	OMIM:616894
Mosaic Variegated Aneuploidy Syndrome	Increased nuchal translucency, Coarctation of aorta, Acute lymphoblastic leukemia, Abnormal aorti...	ORPHA:1052
Insulin-Like Growth Factor I, Resistance To	Reduced subcutaneous adipose tissue, Diabetes mellitus, Ventricular septal defect, Increased circ...	OMIM:270450
Beckwith-Wiedemann Syndrome	Hepatomegaly, Adrenocortical cytomegaly, Polycythemia, Cardiomegaly, Cryptorchidism, Splenomegaly...	ORPHA:116
Rubinstein-Taybi Syndrome 1	Accessory spleen, Ventricular septal defect, Spina bifida, Premature thelarche, Bilateral cryptor...	OMIM:180849
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega...	ORPHA:96191
Indomethacin Embryofetopathy	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:1909
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Umbilical hernia, Ventricular septal defect, Polycystic ovaries	ORPHA:1770
You-Hoover-Fong Syndrome	Coarctation of aorta, Double aortic arch, Vascular ring	OMIM:616954
Loeys-Dietz Syndrome 2	Aortic arch aneurysm, Atrial septal defect, Bicuspid aortic valve, Arterial tortuosity, Descendin...	OMIM:610168
Laryngeal Abductor Paralysis	Cyanosis	OMIM:150260
Aortic Aneurysm, Familial Thoracic 10	Aortic arch aneurysm, Thoracic aortic aneurysm, Bicuspid aortic valve, Fusiform ascending tubular...	OMIM:617168
Trichohepatoenteric Syndrome 1	Hepatomegaly, Ventricular septal defect, Increased mean platelet volume, Splenomegaly, Abnormalit...	OMIM:222470
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Precocious puberty, Cryptorchidism, Ventricular septal defect, Short neck	OMIM:620073
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hyperparathyroidism, Anemia	ORPHA:2668
Histiocytoid Cardiomyopathy	Hepatomegaly, Cyanosis, Ventricular septal defect, Cardiomegaly, Stroke-like episode, Polycystic ...	ORPHA:137675
Rabson-Mendenhall Syndrome	Increased pineal volume, Atrial septal defect, Enlarged ovaries, Reduced subcutaneous adipose tis...	ORPHA:769
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Short neck, Atrioventricular cana...	ORPHA:508498
Donnai-Barrow Syndrome	Umbilical hernia, Ventricular septal defect	ORPHA:2143
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Laryngotracheal Angioma	Cyanosis	ORPHA:137935
Infant Acute Respiratory Distress Syndrome	Hypoxemia, Cyanosis	ORPHA:70587
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Cryptorchidism, Abnormal mesentery morphology, Ventricular septal defect	ORPHA:2256
Gm1 Gangliosidosis	Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Abnormal heart morphology, Hep...	ORPHA:354
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ...	OMIM:619534
Mccune-Albright Syndrome	Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio...	OMIM:174800
Spondylo-Ocular Syndrome	Webbed neck, Ventricular septal defect, Low posterior hairline, Short neck	ORPHA:85194
Costello Syndrome	Thickened nuchal skin fold, Ventricular septal defect, Short neck, Cryptorchidism, Mitral valve p...	ORPHA:3071
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Macroorchidism, Ascending tubular aorta aneurysm, Atrial septal defect, Ventricular septal defect	OMIM:309520
Encephalopathy, Ethylmalonic	Death in infancy, Acrocyanosis, Petechiae	OMIM:602473
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Ventricular septal defect, Anterior encephalocele	OMIM:601357
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital muscular torticollis, Bicuspid aortic valve, Ventricular septal defect, Supernumerary ...	ORPHA:457279
Arterial Tortuosity Syndrome	Prematurely aged appearance, Telangiectasia of the skin, Myocarditis, Pulmonary artery stenosis, ...	ORPHA:3342
Meester-Loeys Syndrome	Poor wound healing, Mitral valve prolapse, Ascending tubular aorta aneurysm, Aortic root aneurysm...	OMIM:300989
Keutel Syndrome	Pulmonary artery stenosis, Ventricular septal defect	ORPHA:85202
3Mc Syndrome 1	Conjunctival telangiectasia, Ventricular septal defect, Supernumerary nipple, Patent ductus arter...	OMIM:257920
Diamond-Blackfan Anemia	Acute myeloid leukemia, Radial artery aplasia, Ventricular septal defect, Pure red cell aplasia, ...	ORPHA:124
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Cyanosis, Cardiomyopathy	ORPHA:159
Eosinophilic Fasciitis	Acrocyanosis, Abnormal eosinophil morphology, Eosinophilia	ORPHA:3165
Neu-Laxova Syndrome 1	Ventricular septal defect, Spina bifida, Short neck, Cryptorchidism, Patent ductus arteriosus, Pa...	OMIM:256520
Beaulieu-Boycott-Innes Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:613680
Fetal Trimethadione Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ...	ORPHA:1913
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Pulmonary artery atresia, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:620113
Chops Syndrome	Ventricular septal defect, Splenomegaly, Cryptorchidism, Patent ductus arteriosus, Anomalous pulm...	OMIM:616368
Woods Syndrome	Ventricular septal defect, Supernumerary nipple	OMIM:615236
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Ventricular septal defect, Splenomegaly, Cholestasis, Hepatic fibrosis	OMIM:615630
Multiple Endocrine Neoplasia, Type Iia	Hyperparathyroidism, Thyroid C cell hyperplasia, Increased circulating cortisol level, Pheochromo...	OMIM:171400
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Ventricular septal defect, Death in infancy, Death in childhood	OMIM:616901
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Cyanosis, Transient ischemic attack, Anomalous pulmonary venous return, ...	ORPHA:99104
Coffin-Siris Syndrome	Delayed eruption of teeth, Atrial septal defect, Ventricular septal defect, Cryptorchidism, Paten...	ORPHA:1465
Neurodevelopmental Disorder With Language Delay And Seizures	Cryptorchidism, Ventricular septal defect, Hypothyroidism	OMIM:619908
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Varicose veins, Pulmonic stenosis, Aortic dissection, Bruising susceptibility, Polymicrogyria, Va...	OMIM:618343
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Ventricular septal defect, Pericardial effusion, Normochromic anemia, Cholelithiasis, Hypertrophi...	OMIM:618775
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys...	OMIM:613795
Chromosome 9P Deletion Syndrome	Ventricular septal defect, Short neck, Patent ductus arteriosus, Perimembranous ventricular septa...	OMIM:158170
Obesity-Hypoventilation Syndrome	Cyanosis	OMIM:257500
7Q11.23 Microduplication Syndrome	Ventricular septal defect, Cutis marmorata, Short neck, Cryptorchidism, Patent ductus arteriosus,...	ORPHA:96121
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Ascending aorta hypoplasia, Facial erythem...	OMIM:619503
C Syndrome	Hepatomegaly, Patent ductus arteriosus, Ventricular septal defect, Cryptorchidism	OMIM:211750
Alagille Syndrome 1	Atrial septal defect, Ventricular septal defect, Hepatocellular carcinoma, Cholestasis, Coarctati...	OMIM:118450
Codas Syndrome	Delayed eruption of teeth, Extrahepatic biliary duct atresia, Ventricular septal defect	ORPHA:1458
Multiple Endocrine Neoplasia, Type I	Subcutaneous lipoma, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentra...	OMIM:131100
Branchiooculofacial Syndrome	Supernumerary nipple, Short neck, Cryptorchidism, Low posterior hairline, Premature graying of ha...	OMIM:113620
Ogden Syndrome	Redundant neck skin, Bicuspid aortic valve, Maternal diabetes, Short neck, Cardiomegaly, Microves...	OMIM:300855
Dahlberg-Borer-Newcomer Syndrome	Hypoparathyroidism, Mitral valve prolapse, Hypothyroidism, Hypohidrosis	ORPHA:1563
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Chronic active hepatitis, Female hypogonadism, Decreased circulating parathyr...	OMIM:240300
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:617061
Lateral Meningocele Syndrome	Ventricular septal defect, Short neck, Cryptorchidism, Meningocele, Low posterior hairline, Umbil...	ORPHA:2789
Lymphedema-Distichiasis Syndrome	Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Varicose veins, Webbed ...	OMIM:153400
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Ventricular septal defect, Abnormalit...	ORPHA:79329
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect, Short neck	OMIM:609654
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy, Cyanosis	OMIM:610773
Brachytelephalangic Chondrodysplasia Punctata	Ventricular septal defect, Pulmonary artery stenosis, Increased nuchal translucency, Patent ductu...	ORPHA:79345
Diamond-Blackfan Anemia 1	Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Short neck, Congenital hypoplas...	OMIM:105650
Cardiomyopathy, Dilated, 1S	Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio...	OMIM:613426
Tyshchenko Syndrome	Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Pulmonic stenosis, Atrial septal...	OMIM:615102
Catel-Manzke Syndrome	Overriding aorta, Ventricular septal defect, Dextrocardia, Short neck, Cryptorchidism, Coarctatio...	OMIM:616145
Yuan-Harel-Lupski Syndrome	Ventricular septal defect, Aortic root aneurysm, Bicuspid aortic valve, Double outlet right ventr...	OMIM:616652
Mucopolysaccharidosis Type 2	Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly,...	ORPHA:580
Kabuki Syndrome 2	Natal tooth, Coarctation of aorta, Pulmonic stenosis, Atrial septal defect, Atrioventricular cana...	OMIM:300867
Joubert Syndrome 14	Encephalocele, Meningocele, Ventricular septal defect, Intracranial hemorrhage	OMIM:614424
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Mitral valve prolapse,...	OMIM:175050
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Recurrent pancre...	OMIM:618268
Aneurysm-Osteoarthritis Syndrome	Arterial tortuosity, Patent ductus arteriosus, Bruising susceptibility, Abnormal heart morphology...	ORPHA:284984
Tatton-Brown-Rahman Syndrome	Atrial septal defect, Umbilical hernia, Ventricular septal defect	OMIM:615879
Restrictive Dermopathy 2	Cyanosis	OMIM:619793
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hepatomegaly, Death in infancy, Cyanosis, Splenomegaly, Concentric hypertrophic cardiomyopathy, H...	OMIM:252010
Xk Aprosencephaly Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:3469
Waardenburg Syndrome Type 3	Atrial septal defect, Acrocyanosis	ORPHA:896
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Hypoplastic left heart, Tetralog...	OMIM:618748
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Natal tooth, Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Patent ductus arte...	ORPHA:353281
8Q12 Microduplication Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:228399
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Cardiomegaly, Short neck, Webbed neck, Hypertrophic cardiomyopathy	OMIM:616897
Kearns-Sayre Syndrome	Hypoparathyroidism, Sideroblastic anemia, Diabetes mellitus, Primary adrenal insufficiency, Cardi...	OMIM:530000
Seckel Syndrome 9	Atrial septal defect, Pulmonary artery hypoplasia, Ventricular septal defect, Simplified gyral pa...	OMIM:616777
Hypoparathyroidism, Familial Isolated, 1	Hypoparathyroidism, Decreased circulating parathyroid hormone level	OMIM:146200
Mucopolysaccharidosis Type 2, Severe Form	Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly, Peripheral ar...	ORPHA:217085
Robinow Syndrome	Ventricular septal defect, Persistence of primary teeth, Cryptorchidism, Marked delay in eruption...	ORPHA:97360
Brachydactyly, Type B1	Delayed eruption of permanent teeth, Ventricular septal defect	OMIM:113000
Familial Visceral Myopathy	Umbilical hernia, Hyperparathyroidism, Abdominal situs inversus	ORPHA:2604
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron concentration...	OMIM:619991
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Large placenta, Umbilical hernia, Ventricular septal defect, Abnormal heart morphology	ORPHA:254534
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly, Peripheral ar...	ORPHA:217093
X Small Rings	Bicuspid aortic valve, Ventricular septal defect, Short neck, Low posterior hairline, Aortic root...	ORPHA:96201
Cooper-Jabs Syndrome	Umbilical hernia, Ventricular septal defect	ORPHA:1488
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Umbilical hernia, Patent ductus arteriosus, Bruising susceptibility, Aortic rupture	OMIM:614557
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hyperparathyroidism	OMIM:239199
Orofaciodigital Syndrome Vi	Coarctation of aorta, Hypoplastic left heart, Occipital meningocele, Periventricular nodular hete...	OMIM:277170
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Delayed eruption of teeth, Hepatomegaly, Ventricular septal defect, Pulmonary artery stenosis, Su...	OMIM:280000
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Hamamy Syndrome	Hypoparathyroidism, Microcytic anemia, Cryptorchidism, Complete atrioventricular canal defect, Lo...	OMIM:611174
Tetrasomy 9P	Absent gallbladder, Juxtaductal coarctation of the aorta, Pericarditis, Dextrocardia, Short neck,...	ORPHA:3310
Weill-Marchesani Syndrome 2	Ventricular septal defect, Patent ductus arteriosus, Ascending aortic dissection, Pulmonic stenos...	OMIM:608328
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Death in infancy, Ventricular septal defect, Abnormal cortical gyration, Short neck, Pachygyria, ...	OMIM:210710
Classical Ehlers-Danlos Syndrome	Prematurely aged appearance, Poor wound healing, Mitral valve prolapse, Aortic root aneurysm, Dil...	ORPHA:287
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Redundant neck skin, Ventricular septal defect, Low posterior hairline, Atrial septal defect, Spi...	OMIM:617360
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cyanosis	OMIM:619580
Melas	Hypoparathyroidism, Diabetes mellitus, Hypogonadotropic hypogonadism, Dilated cardiomyopathy, Ery...	ORPHA:550
Cerebellar-Facial-Dental Syndrome	Ventricular septal defect, Short neck, Cryptorchidism, Mitral valve prolapse, Ascending tubular a...	ORPHA:444072
45,X/46,Xy Mixed Gonadal Dysgenesis	Streak ovary, Unilateral cryptorchidism, Bicuspid aortic valve, Bilateral cryptorchidism, Cryptor...	ORPHA:1772
Witteveen-Kolk Syndrome	Branchial fistula, Unilateral cryptorchidism, Decreased response to growth hormone stimulation te...	OMIM:613406
Turner Syndrome Due To Structural X Chromosome Anomalies	Bicuspid aortic valve, Short neck, Webbed neck, Hepatic fibrosis, Atrial septal defect, Hepatic s...	ORPHA:99413
Mosaic Monosomy X	Bicuspid aortic valve, Short neck, Webbed neck, Hepatic fibrosis, Atrial septal defect, Hepatic s...	ORPHA:99228
Monosomy X	Bicuspid aortic valve, Short neck, Webbed neck, Hepatic fibrosis, Atrial septal defect, Hepatic s...	ORPHA:99226
Turner Syndrome	Bicuspid aortic valve, Short neck, Webbed neck, Hepatic fibrosis, Atrial septal defect, Hepatic s...	ORPHA:881
Kury-Isidor Syndrome	Ventricular septal defect, Short neck	OMIM:619762
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Precocious puberty, Patent ductus arteriosus, Abnormal heart morphology, Atri...	ORPHA:369837
Osteopetrosis, Autosomal Recessive 9	Hyperparathyroidism, Anemia	OMIM:620366
Familial Bicuspid Aortic Valve	Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, As...	ORPHA:402075
19P13.3 Microduplication Syndrome	Precocious puberty, Ventricular septal defect, Unilateral cryptorchidism	ORPHA:447980
Peroxisome Biogenesis Disorder 5A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Death in infancy, Ventricular septal defect, Crypt...	OMIM:614866
Igg4-Related Kidney Disease	Pericarditis, Eosinophilia, Retroperitoneal fibrosis, Lymphadenitis, Abnormal mesentery morpholog...	ORPHA:449395
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Abnormality of the endocrine system, Cryptorchidism, Ventricular septal defect, Abnormal vena cav...	ORPHA:166035
Mckusick-Kaufman Syndrome	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hypoplastic left heart, Atri...	ORPHA:2473
Congenital Myasthenic Syndrome	Cyanosis	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Cyanosis	ORPHA:98914
Koolen-De Vries Syndrome Due To A Point Mutation	Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Testicular neoplasm...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Testicular neoplasm...	ORPHA:363958
Maternal Phenylketonuria	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear...	ORPHA:2209
Myhre Syndrome	Ventricular septal defect, Short neck, Pericardial effusion, Cryptorchidism, Patent ductus arteri...	OMIM:139210
Focal Dermal Hypoplasia	Ventricular septal defect, Telangiectasia of the skin, Spina bifida, Patent ductus arteriosus, Er...	ORPHA:2092
Pitt-Hopkins Syndrome	Supernumerary nipple, Short neck, Cryptorchidism, Failure of eruption of permanent teeth, Acrocya...	ORPHA:2896
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Ventricular septal defect	ORPHA:94066
Specc1L-Related Hypertelorism Syndrome	Atrial septal defect, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Advanc...	ORPHA:1519
Late-Onset Isolated Acth Deficiency	Hypoparathyroidism, Normocytic anemia, Decreased circulating cortisol level, Macrocytic anemia, E...	ORPHA:199299
Ethylmalonic Encephalopathy	Acrocyanosis, Petechiae	ORPHA:51188
Microcephaly-Capillary Malformation Syndrome	Ventricular septal defect, Simplified gyral pattern, Atrial septal defect, Patent foramen ovale, ...	OMIM:614261
Alg9-Cdg	Thickened nuchal skin fold, Hepatomegaly, Torticollis, Ventricular septal defect, Short neck, Per...	ORPHA:79328
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Cyanosis, Decreased response to growth hormone stimulation test, Central diabetes insipidus, Adre...	ORPHA:293987
Schimmelpenning-Feuerstein-Mims Syndrome	Precocious puberty, Coarctation of aorta	OMIM:163200
Pallister-Hall Syndrome	Adrenal hypoplasia, Gonadotropin deficiency, Atrial septal defect, Atrioventricular canal defect,...	ORPHA:672
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hyp...	ORPHA:699
Bohring-Opitz Syndrome	Ventricular septal defect, Supernumerary nipple, Gray matter heterotopia, Hyperechogenic pancreas...	OMIM:605039
Polysyndactyly With Cardiac Malformation	Atrial septal defect, Stillbirth, Ventricular septal defect, Hepatic cysts	OMIM:263630
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome	Hypoparathyroidism	ORPHA:496756
Hydrolethalus Syndrome 1	Accessory spleen, Ventricular septal defect, Abnormal cortical gyration, Complete atrioventricula...	OMIM:236680
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Right aortic arch, Pachygyria, Ventricular septal defect, Pineal cyst	ORPHA:513456
Trigonocephaly With Short Stature And Developmental Delay	Ventricular septal defect	OMIM:314320
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Abnormality of neuronal migr...	ORPHA:464311
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Ventricular septal defect	ORPHA:3369
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Redundant neck skin, Pseudohypoparathyroidism, Short neck	OMIM:617157
Tbck-Related Intellectual Disability Syndrome	Hyperthyroidism, Ventricular septal defect, Decreased response to growth hormone stimulation test...	ORPHA:488632
Cleft Larynx, Posterior	Cyanosis	OMIM:215800
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:616898
Pyruvate Dehydrogenase E1-Alpha Deficiency	Polymicrogyria, Ventricular septal defect	ORPHA:79243
Cardiospondylocarpofacial Syndrome	Ventricular septal defect, Muscular ventricular septal defect, Hypoplastic aortic arch, Dysplasti...	OMIM:157800
Surfactant Metabolism Dysfunction, Pulmonary, 3	Neonatal death, Death in infancy, Cyanosis, Hypoxemia	OMIM:610921
Hajdu-Cheney Syndrome	Hepatomegaly, Mitral stenosis, Ventricular septal defect, Short neck, Splenomegaly, Patent ductus...	ORPHA:955
Loeys-Dietz Syndrome 5	Reduced subcutaneous adipose tissue, Ventricular septal defect, Aortic root aneurysm, Ascending a...	OMIM:615582
Gabriele-De Vries Syndrome	Cryptorchidism, Patent foramen ovale, Aortopulmonary collateral arteries	OMIM:617557
Fanconi Anemia, Complementation Group N	Ventricular septal defect, Aplastic anemia, Short neck	OMIM:610832
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch...	OMIM:300967
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis	ORPHA:488627
Postinfectious Vasculitis	Cerebral vasculitis, Viral hepatitis, Palpable purpura, Cutis marmorata, Orchitis, Cardiomyopathy...	ORPHA:48435
Marfan Syndrome	Mitral valve calcification, Descending aortic dissection, Meningocele, Dilatation of an abdominal...	ORPHA:558
Rere-Related Neurodevelopmental Syndrome	Cryptorchidism, Ventricular septal defect, Abnormal heart morphology	ORPHA:494344
Weill-Marchesani Syndrome	Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis	ORPHA:3449
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Coarctation of aorta, Atrioventricular cana...	OMIM:617088
Larsen Syndrome	Ventricular septal defect, Cryptorchidism, Atrial septal defect, Spina bifida occulta, Aortic ane...	OMIM:150250
Filippi Syndrome	Cryptorchidism, Ventricular septal defect, Supernumerary nipple	ORPHA:3255
Hyperoxaluria, Primary, Type I	Acrocyanosis, Peripheral arterial stenosis, Cutis marmorata	OMIM:259900
Smith-Lemli-Opitz Syndrome	Hepatomegaly, Death in infancy, Ventricular septal defect, Periventricular heterotopia, Precociou...	OMIM:270400
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Ventricular septal defect, Microvesicular hepatic steatosis, Sple...	OMIM:619418
Laryngotracheoesophageal Cleft	Cyanosis	ORPHA:2004
46,Xx Sex Reversal 5	Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Increased serum...	OMIM:618901
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:614262
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Cholestasis, Cardiomyopathy, Left ventricular hypertrophy, Diffuse hepatic st...	ORPHA:746
Van Esch-O'Driscoll Syndrome	Ventricular septal defect, Hypogonadotropic hypogonadism, Pulmonary artery stenosis, Pulmonary va...	OMIM:301030
Microphthalmia, Syndromic 3	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Ventricular septal defect, Cryptorc...	OMIM:206900
Jacobsen Syndrome	Ventricular septal defect, Short neck, Cryptorchidism, Atrial septal defect, Annular pancreas, Th...	OMIM:147791
Intellectual Developmental Disorder, Autosomal Recessive 71	Cryptorchidism, Ventricular septal defect	OMIM:618504
Dubowitz Syndrome	Hypoparathyroidism, Delayed eruption of teeth, Cutis marmorata, Abnormality of neutrophils, Crypt...	ORPHA:235
Simpson-Golabi-Behmel Syndrome	Hepatomegaly, Death in infancy, Atrial septal defect, Ventricular septal defect, Supernumerary ni...	ORPHA:373
Thakker-Donnai Syndrome	Ventricular septal defect, Short neck, Transposition of the great arteries, Webbed neck, Tetralog...	ORPHA:1780
Omodysplasia 1	Ventricular septal defect, Short neck, Cryptorchidism, Pulmonary artery stenosis, Atrial septal d...	OMIM:258315
Glycogen Storage Disease Of Heart, Lethal Congenital	Cyanosis, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricula...	OMIM:261740
Weiss-Kruszka Syndrome	Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi...	OMIM:618619
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Natal tooth, Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Patent ductus arte...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Natal tooth, Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Patent ductus arte...	ORPHA:353277
Apert Syndrome	Delayed eruption of teeth, Overriding aorta, Ventricular septal defect, Cryptorchidism, Hyperhidr...	OMIM:101200
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Ventricular septal defect, Cryptorchidism, Reduced alpha/beta synthesis ratio, Hypochromic microc...	OMIM:301040
Radio-Tartaglia Syndrome	Precocious puberty, Gray matter heterotopia, Ventricular septal defect	OMIM:619312
Marshall-Smith Syndrome	Ventricular septal defect, Bilateral cryptorchidism, Cryptorchidism, Patent ductus arteriosus, Ma...	OMIM:602535
Hajdu-Cheney Syndrome	Ventricular septal defect, Short neck, Cryptorchidism, Patent ductus arteriosus, Umbilical hernia	OMIM:102500
Nicolaides-Baraitser Syndrome	Cryptorchidism, Low posterior hairline, Coarctation of aorta, Excessive wrinkled skin, Periorbita...	OMIM:601358
Loeys-Dietz Syndrome	Arterial tortuosity, Patent ductus arteriosus, Aortic dissection, Arterial dissection, Bruising s...	ORPHA:60030
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Annular pancreas, Patent for...	OMIM:616975
Cardiofacioneurodevelopmental Syndrome	Ventricular septal defect, Asplenia, Cryptorchidism, Abdominal situs inversus, Pulmonic stenosis,...	OMIM:619123
Galloway-Mowat Syndrome 3	Pachygyria, Lissencephaly, Simplified gyral pattern, Coarctation of aorta	OMIM:617729
Jansen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve	OMIM:617450
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Cryptorchidism, Ventricular septal defect, Abnormal heart morphology	ORPHA:404440
Coffin-Siris Syndrome 7	Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve	OMIM:618027
Braddock-Carey Syndrome 1	Aortic valve prolapse, Ventricular septal defect, Thrombocytopenia	OMIM:619980
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Cryptorchidism, Ventricular septal defect, Dysplastic pulmonary valve, Focal polymicrogyria	OMIM:619103
Fryns Syndrome	Ectopic pancreatic tissue, Ventricular septal defect, Short neck, Cryptorchidism, Stillbirth, Pol...	OMIM:229850
Congenital Gerbode Defect	Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Ba...	ORPHA:99095
Atrial Septal Defect, Ostium Secundum Type	Cyanosis, Transient ischemic attack, Right ventricular dilatation, Stroke, Abnormal mitral valve ...	ORPHA:99103
Cerebrocostomandibular Syndrome	Death in infancy, Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Webbed ...	ORPHA:1393
Phelan-Mcdermid Syndrome	Patent ductus arteriosus, Ventricular septal defect, Hypohidrosis	OMIM:606232
Cerebellofaciodental Syndrome	Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Short neck	OMIM:616202
Hypocalciuric Hypercalcemia, Familial, Type I	Parathyroid adenoma, Hyperparathyroidism, Pancreatitis	OMIM:145980
Tetraamelia Syndrome 2	Absent nipple, Ventricular septal defect, Hypoplastic pulmonary veins	OMIM:618021
Williams Syndrome	Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Abnormality of the ne...	ORPHA:904
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Natal tooth, Ventricular septal defect, Periventricular heterotopia, Cry...	OMIM:615948
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Decreased response to growth hormone stimulation test, Hypothyroidism,...	ORPHA:444077
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Ventricular septal defect, Anterior pituitary hypoplasia, Supernumerary nipple, Bilateral cryptor...	ORPHA:466791
Dyrk1A-Related Intellectual Disability Syndrome	Ventricular septal defect, Anterior pituitary hypoplasia, Cryptorchidism, Patent ductus arteriosu...	ORPHA:464306
Fanconi Anemia, Complementation Group C	Pancytopenia, Hypergonadotropic hypogonadism, Ventricular septal defect, Cryptorchidism, Thromboc...	OMIM:227645
Pulmonary Alveolar Proteinosis, Acquired	Hypoxemia, Cyanosis	OMIM:610910
Coffin-Siris Syndrome 4	Atrial septal defect, Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Pulmon...	OMIM:614609
16Q24.3 Microdeletion Syndrome	Ventricular septal defect, Periventricular heterotopia, Cryptorchidism, Dilated cardiomyopathy, I...	ORPHA:261250
Sanjad-Sakati Syndrome	Hypoparathyroidism, Cryptorchidism, Congenital hypoparathyroidism	ORPHA:2323
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Cryptorchidism, Ventricular septal defect, Decreased testicular size, Short neck	ORPHA:251028
Burn-Mckeown Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:608572
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect	OMIM:235750
Ethylene Glycol Poisoning	Cyanosis, Renal tubular epithelial necrosis	ORPHA:31826
Trichothiodystrophy	Ventricular septal defect, Prematurely aged appearance, Cryptorchidism, Increased mean corpuscula...	ORPHA:33364
Trisomy 18	Ventricular septal defect, Spina bifida, Cryptorchidism, Anencephaly, Webbed neck, Atrial septal ...	ORPHA:3380
Alport Syndrome	Renal glomerular foam cells, Aortic aneurysm, Abnormal aortic morphology	ORPHA:63
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormality of the endocrine system, Cryptorchi...	ORPHA:438213
Osteopathia Striata With Cranial Sclerosis	Natal tooth, Ventricular septal defect, Patent ductus arteriosus, Webbed neck, Atrial septal defe...	OMIM:300373
17Q11 Microdeletion Syndrome	Cerebral artery stenosis, Telangiectasia of the skin, Precocious puberty, Abnormal internal carot...	ORPHA:97685
19Q13.11 Microdeletion Syndrome	Cryptorchidism, Ventricular septal defect, Supernumerary nipple	ORPHA:217346
Lissencephaly 9 With Complex Brainstem Malformation	Pachygyria, Ventricular septal defect, Lissencephaly	OMIM:618325
Kaufman Oculocerebrofacial Syndrome	Atrial septal defect, Ventricular septal defect, Coarctation of aorta	OMIM:244450
Warsaw Breakage Syndrome	Tetralogy of Fallot, Ventricular septal defect, Cutis marmorata	OMIM:613398
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Ventricular septal defect, Dextrocardia, Abnormal heart valve morpholo...	ORPHA:289
2Q31.1 Microdeletion Syndrome	Ventricular septal defect, Short neck, Cryptorchidism, Atrial septal defect, Abnormality of the h...	ORPHA:251014
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bicuspid aortic valve, Short neck, Patent ductus arteriosus, Muscular ventricular septal defect, ...	OMIM:612474
Smith-Lemli-Opitz Syndrome	Atrial septal defect, Ventricular septal defect, Cutis marmorata, Short neck, Cryptorchidism, Pat...	ORPHA:818
Holt-Oram Syndrome	Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic l...	OMIM:142900
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral stenosis, Mitral atresia, Aortic valve c...	OMIM:109730
Dysosteosclerosis	Delayed eruption of teeth, Ventricular septal defect	ORPHA:1782
Degcags Syndrome	Hepatomegaly, Pancytopenia, Ventricular septal defect, Congenital hypoplastic anemia, Cryptorchid...	OMIM:619488
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Ventricular septal defect, Pancreatic fibrosis	OMIM:615503
Orofaciodigital Syndrome Type 14	Ventricular septal defect, Short neck, Bilateral cryptorchidism, Periventricular heterotopia, Pat...	ORPHA:434179
Chromosome 1Q41-Q42 Deletion Syndrome	Cryptorchidism, Ventricular septal defect, Supernumerary nipple	OMIM:612530
Distal Duplication 5Q	Cryptorchidism, Dextrocardia, Ventricular septal defect, Aplasia/Hypoplasia of the gallbladder	ORPHA:96097
Weill-Marchesani Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis	OMIM:277600
Pontocerebellar Hypoplasia, Type 8	Ventricular septal defect, Patent foramen ovale	OMIM:614961
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Thickened nuchal skin fold, Death in infancy, Bicuspid aortic valve, Mitral atresia, Microvesicul...	OMIM:220111
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Ventricular septal defect, Hepatitis, Hypoplasia of the thymus, Type...	ORPHA:436252
Hypocalcemic Vitamin D-Resistant Rickets	Hyperparathyroidism	ORPHA:93160
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Ventricular septal defect, Pericardial effusion, Jaundice, Dilated cardiomyopathy, ...	ORPHA:26793
Cutis Laxa, Autosomal Dominant 1	Prematurely aged appearance, Ventricular septal defect, Poor wound healing, Progeroid facial appe...	OMIM:123700
Choanal Atresia	Cyanosis	ORPHA:137914
Opitz Gbbb Syndrome	Cryptorchidism, Umbilical hernia, Ventricular septal defect	OMIM:300000
Short Stature-Micrognathia Syndrome	Cryptorchidism, Ventricular septal defect	OMIM:617164
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec...	OMIM:108800
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Cholelithiasis, Ventricular septal defect, Left superior vena cava draining...	ORPHA:464738
Donnai-Barrow Syndrome	Umbilical hernia, Ventricular septal defect	OMIM:222448
Mowat-Wilson Syndrome	Delayed eruption of teeth, Ventricular septal defect, Pulmonary artery sling, Supernumerary nippl...	OMIM:235730
Addison Disease	Hypoparathyroidism, Normocytic anemia, Decreased circulating cortisol level, Primary testicular f...	ORPHA:85138
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Coarctation of aorta	ORPHA:268249
Duane-Radial Ray Syndrome	Atrial septal defect, Spina bifida occulta, Ventricular septal defect, Vascular dilatation	OMIM:607323
Diamond-Blackfan Anemia 5	Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia, Leukopenia	OMIM:612528
Diets-Jongmans Syndrome	Cryptorchidism, Interrupted inferior vena cava with azygous continuation, Umbilical hernia, Ventr...	OMIM:618846
Floating-Harbor Syndrome	Short neck, Cryptorchidism, Low posterior hairline, Coarctation of aorta, Atrial septal defect, U...	OMIM:136140
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
Ctcf-Related Neurodevelopmental Disorder	Cryptorchidism, Patent ductus arteriosus, Coarctation of aorta, Prolonged neonatal jaundice, Atri...	ORPHA:363611
Serkal Syndrome	Abnormality of the adrenal glands, Ventricular septal defect, Pulmonic stenosis	ORPHA:139466
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Ventricular septal defect, Short neck, Cryptorchidism, Pulmonic stenosis, Webbed neck, Atrial sep...	OMIM:607721
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Pachygyria, Crypt...	OMIM:607872
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Ventricular septal defect, Cerebral hemorrhage, Precocious puberty, Cryptorchidism, Patent ductus...	OMIM:616682
Mosaic Trisomy 20	Ventricular septal defect, Long neck, Cryptorchidism, Dysplastic tricuspid valve, Abnormal mitral...	ORPHA:1724
Cornelia De Lange Syndrome 1	Delayed eruption of teeth, Ventricular septal defect, Cutis marmorata, Short neck, Cryptorchidism...	OMIM:122470
Autosomal Dominant Cutis Laxa	Redundant neck skin, Prematurely aged appearance, Dilatation of the ventricular cavity, Coarctati...	ORPHA:90348
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Ventricular septal defect, Death in adolescence	OMIM:619229
16P13.11 Microdeletion Syndrome	Atrial septal defect, Cryptorchidism, Ventricular septal defect, Abnormality of neuronal migration	ORPHA:261236
Familial Dysautonomia	Abnormal peritoneum morphology, Acrocyanosis, Hypohidrosis, Hyperhidrosis	ORPHA:1764
Metaphyseal Chondrodysplasia, Jansen Type	Hypoparathyroidism	OMIM:156400
Dermatomyositis	Pericarditis, Abnormal eosinophil morphology, Telangiectasia of the skin, Myocarditis, Vasculitis...	ORPHA:221
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Ventricular septal defect, Dextrotransposition of the great arteries	OMIM:619995
Kabuki Syndrome	Precocious puberty, Cryptorchidism, Abnormal cardiac septum morphology, Coarctation of aorta	ORPHA:2322
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pancreatic fibrosis, Ventricular septal defect, Hepatic fibrosis, Atrial septal defect, Pachygyria	OMIM:263520
Osteogenesis Imperfecta	Delayed eruption of teeth, Abnormal endocardium morphology, Cerebral hemorrhage, Hyperhidrosis, M...	ORPHA:666
Codas Syndrome	Delayed eruption of teeth, Ventricular septal defect, Cryptorchidism, Atrial septal defect, Atrio...	OMIM:600373
Hypermobile Ehlers-Danlos Syndrome	Venous insufficiency, Ascending tubular aorta aneurysm, Arterial dissection, Umbilical hernia, Ac...	ORPHA:285
Surfactant Metabolism Dysfunction, Pulmonary, 2	Hypoxemia, Cyanosis	OMIM:610913
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hypoplastic aortic arch	ORPHA:457284
Wilson Disease	Hypoparathyroidism, Hepatomegaly, Hemolytic anemia, Splenomegaly, Atypical or prolonged hepatitis...	OMIM:277900
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Biventricular hypertrophy, Primary hyperaldosteronism, Left ventricula...	OMIM:615474
Limb Body Wall Complex	Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Anencephaly, Abnormal h...	ORPHA:2369
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary...	OMIM:615067
Goldberg-Shprintzen Syndrome	Pachygyria, Ventricular septal defect, Polymicrogyria, Short neck	OMIM:609460
Distal Deletion 19P	Umbilical hernia, Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse	ORPHA:96129
Frank-Ter Haar Syndrome	Redundant neck skin, Ventricular septal defect, Secundum atrial septal defect, Mitral valve prola...	OMIM:249420
Congenital Disorder Of Glycosylation, Type Iia	Ventricular septal defect, Short neck	OMIM:212066
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Abnormal heart morphology, Diabetes mellitus, Parathyroid hypoplasia	ORPHA:2237
Diamond-Blackfan Anemia 12	Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia	OMIM:615550
Vascular Ehlers-Danlos Syndrome	Peripheral arteriovenous fistula, Arterial dissection, Transient ischemic attack, Abnormal heart ...	ORPHA:286
Delpire-Mcneill Syndrome	Ventricular septal defect	OMIM:619083
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Webbed neck, Ventricular septal defect, Short neck	OMIM:178110
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia, Ventricular septal defect, Vascular dilatation	OMIM:219730
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Atrial septal defect, Ventricular septal defect, Supernumerary nipple, Splenomegaly...	OMIM:312870
Cohen Syndrome	Ventricular septal defect, Cryptorchidism, Mitral valve prolapse, Neutropenia, Delayed puberty	ORPHA:193
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Ventricular septal defect, Supernumerary nipple, Hypohidrosis	ORPHA:1071
Orofaciodigital Syndrome V	Ventricular septal defect, Tetralogy of Fallot, Unilateral cryptorchidism	OMIM:174300
Lambotte Syndrome	Ventricular septal defect	OMIM:245552
3Q29 Microduplication Syndrome	Ventricular septal defect, Short neck	ORPHA:251038
Chromosome 16P13.3 Duplication Syndrome	Ventricular septal defect, Short neck, Cryptorchidism, Webbed neck, Atrial septal defect, Tetralo...	OMIM:613458
Vater/Vacterl Association	Occipital encephalocele, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Trans...	OMIM:192350
Floating-Harbor Syndrome	Persistence of primary teeth, Precocious puberty, Cryptorchidism, Short neck, Mesocardia, Coarcta...	ORPHA:2044
Sotos Syndrome	Ventricular septal defect, Cryptorchidism, No permanent dentition, Patent ductus arteriosus, Abno...	ORPHA:821
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Ventricular septal defect, Dextrocardia	OMIM:616037
Blomstrand Lethal Chondrodysplasia	Natal tooth, Coarctation of aorta	ORPHA:50945
Arboleda-Tham Syndrome	Ventricular septal defect, Bilateral cryptorchidism, Secundum atrial septal defect, Patent ductus...	OMIM:616268
Acrofacial Dysostosis 1, Nager Type	Ventricular septal defect, Patent ductus arteriosus, Urticaria, Tetralogy of Fallot, Polymicrogyria	OMIM:154400
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Ventricular septal defect, Microcytic anemia, Splenomegaly, Thrombocytopenia, Incre...	OMIM:619525
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Transient neutropenia, Ventricular septal defect, Chronic neutropenia, Abnormal right ventricle m...	ORPHA:500095
Severe X-Linked Intellectual Disability, Gustavson Type	Ventricular septal defect	ORPHA:3078
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Death in infancy, Cyanosis, Death in childhood	OMIM:618426
Linear Skin Defects With Multiple Congenital Anomalies 1	Atrial septal defect, Overriding aorta, Ventricular septal defect, Histiocytoid cardiomyopathy	OMIM:309801
Aase-Smith Syndrome I	Death in infancy, Ventricular septal defect	OMIM:147800
Helix Syndrome	Anhidrosis, Hyperparathyroidism, Xerostomia, Hypohidrosis	OMIM:617671
Kabuki Syndrome 1	Hemolytic anemia, Ventricular septal defect, Premature thelarche, Autoimmune thrombocytopenia, Cr...	OMIM:147920
Williams-Beuren Syndrome	Diabetes mellitus, Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Retinal...	OMIM:194050
Zttk Syndrome	Atrial septal defect, Absent gallbladder, Patent ductus arteriosus, Ventricular septal defect	OMIM:617140
Orotic Aciduria	Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res...	OMIM:258900
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Ventricular septal defect, Cryptorchidism, Pulmonary artery stenosis, Dilatation of the ventricul...	ORPHA:459070
Marfan Syndrome	Reduced subcutaneous adipose tissue, Bicuspid aortic valve, Mitral annular calcification, Mitral ...	OMIM:154700
Holoprosencephaly 13, X-Linked	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ...	OMIM:301043
Yunis-Varon Syndrome	Redundant neck skin, Ventricular septal defect, Cardiomegaly, Pachygyria, Cryptorchidism, Increas...	ORPHA:3472
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Ventricular septal defect, Short neck, Cryptorchidism, Patent ductus arteriosus...	OMIM:268300
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Ventricular septal defect	OMIM:616730
Chromosome 13Q14 Deletion Syndrome	Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Umbilical hernia, Patent foramen...	OMIM:613884
Oculocerebrorenal Syndrome Of Lowe	Delayed eruption of teeth, Death in infancy, Hyperparathyroidism, Cryptorchidism, Anemia, Abnorma...	ORPHA:534
Ulnar-Mammary Syndrome	Ventricular septal defect, Cryptorchidism, Breast aplasia, Hypoplastic nipples, Delayed puberty	ORPHA:3138
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Episodic hyperhidrosis, Acrocyanosis	OMIM:223900
Coffin-Siris Syndrome 1	Delayed eruption of teeth, Ventricular septal defect, Cutis marmorata, Cryptorchidism, Patent duc...	OMIM:135900
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Ventricular septal defect	OMIM:607598
Cerebrocostomandibular Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Webbed neck	OMIM:117650
15Q14 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:261190
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Ventricular septal defect	OMIM:617895
Mullegama-Klein-Martinez Syndrome	Hypoplastic left heart, Apical muscular ventricular septal defect, Coarctation of aorta	OMIM:301022
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Ventricular septal defect	OMIM:618348
Cocaine Intoxication	Subarachnoid hemorrhage, Cerebral hemorrhage, Hyperhidrosis, Ischemic stroke, Aortic dissection	ORPHA:90068
Oculodentodigital Dysplasia	Umbilical hernia, Ventricular septal defect	ORPHA:2710
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Torticollis, Bicuspid aortic valve, Ventricular septal defect, Jaundice, Dilatation of the cerebr...	OMIM:619475
Intellectual Developmental Disorder, Autosomal Dominant 53	Cryptorchidism, Ventricular septal defect	OMIM:617798
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:616449
Alport Syndrome 1, X-Linked	Hypoparathyroidism, Thrombocytopenia	OMIM:301050
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:619575
Peters-Plus Syndrome	Ventricular septal defect, Bilobate gallbladder, Short neck, Cryptorchidism, Patent ductus arteri...	OMIM:261540
Okamoto Syndrome	Redundant neck skin, Ventricular septal defect, Splenomegaly, Abnormal left ventricle morphology,...	ORPHA:2729
Leigh Syndrome	Hypertrophic cardiomyopathy, Ventricular septal defect, Anemia, Neutropenia	ORPHA:506
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Accessory spleen, Ventricular septal defect	OMIM:619306
Alzahrani-Kuwahara Syndrome	Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su...	OMIM:619268
Meier-Gorlin Syndrome 7	Ventricular septal defect, Cryptorchidism, Complete atrioventricular canal defect, Breast aplasia...	OMIM:617063
Chime Syndrome	Ventricular septal defect, Erythema, Tetralogy of Fallot, Acute leukemia, Transposition of the gr...	ORPHA:3474
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Ventricular septal defect, Decreased response to growth hormone stimulation test, Premature thela...	ORPHA:268261
Femoral-Facial Syndrome	Ventricular septal defect, Maternal diabetes, Cryptorchidism, Pulmonic stenosis, Truncus arteriosus	OMIM:134780
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocele testis, Atrial sep...	OMIM:619522
Keutel Syndrome	Ventricular septal defect, Miscarriage, Pulmonary artery hypoplasia, Pulmonic stenosis, Periphera...	OMIM:245150
Early Infantile Epileptic Encephalopathy	Precocious puberty, Umbilical hernia, Pachygyria, Ventricular septal defect	ORPHA:1934
Wolf-Hirschhorn Syndrome	Accessory spleen, Ventricular septal defect, Precocious puberty, Cryptorchidism, Biliary tract ab...	OMIM:194190
Costello Syndrome	Redundant neck skin, Ventricular septal defect, Short neck, Mitral valve prolapse, Pulmonic steno...	OMIM:218040
Mandibulofacial Dysostosis, Guion-Almeida Type	Atrial septal defect, Ventricular septal defect	OMIM:610536
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Delayed eruption of teeth, Bicuspid aortic valve, Pulmonary artery sling, Ventricular septal defe...	ORPHA:261552
Johanson-Blizzard Syndrome	Hepatomegaly, Diabetes mellitus, Ventricular septal defect, Portal hypertension, Situs inversus t...	OMIM:243800
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism	OMIM:146255
Myasthenic Syndrome, Congenital, 21, Presynaptic	Cyanosis	OMIM:617239
Pallister-Killian Syndrome	Delayed eruption of teeth, Anhidrosis, Ventricular septal defect, Supernumerary nipple, Short nec...	OMIM:601803
Mowat-Wilson Syndrome	Delayed eruption of teeth, Bicuspid aortic valve, Pulmonary artery sling, Periventricular heterot...	ORPHA:2152
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Ventricular septal defect, Bicuspid aortic valve, Short neck, Atrial septal defect, Fragile skin	OMIM:271640
Hand-Foot-Genital Syndrome	Ventricular septal defect, Miscarriage	ORPHA:2438
Trichothiodystrophy 4, Nonphotosensitive	Ventricular septal defect	OMIM:234050
Primary Hyperoxaluria	Cardiomyopathy, Acrocyanosis, Cutis marmorata	ORPHA:416
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Anemia	OMIM:127000
Cornelia De Lange Syndrome	Delayed eruption of teeth, Ventricular septal defect, Cutis marmorata, Short neck, Cryptorchidism...	ORPHA:199
Genitopatellar Syndrome	Delayed eruption of teeth, Ventricular septal defect, Periventricular heterotopia, Cryptorchidism...	OMIM:606170
Holoprosencephaly 14	Ventricular septal defect, Periventricular heterotopia, Aortic valve atresia, Gray matter heterot...	OMIM:619895
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Delayed eruption of teeth, Bicuspid aortic valve, Pulmonary artery sling, Abnormal pulmonary valv...	ORPHA:261537
Renpenning Syndrome 1	Ventricular septal defect, Situs inversus totalis, Death in childhood, Atrial septal defect, Tetr...	OMIM:309500
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Erythema, Ventricular septal defect, Hyperhidrosis	OMIM:614653
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Delayed eruption of teeth, Ventricular hypertrophy, Mitral stenosis, Ventricular septal defect, T...	OMIM:143095
Townes-Brocks Syndrome 1	Ventricular septal defect, Cryptorchidism, Atrial septal defect, Umbilical hernia, Tetralogy of F...	OMIM:107480
Thauvin-Robinet-Faivre Syndrome	Varicose veins, Transient neutropenia, Ventricular septal defect, Mitral valve prolapse	OMIM:617107
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Broad neck, Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Pulmonic...	ORPHA:363700
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Bartter Syndrome, Type 1, Antenatal	Hyperparathyroidism, Hyperactive renin-angiotensin system, Increased circulating renin level, Hyp...	OMIM:601678
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Ventricular septal defect, Anterior pituitary hypoplasia, Axillary a...	OMIM:181450
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Ventricular septal defect	OMIM:250410
Teebi-Shaltout Syndrome	Aortic valve stenosis, Ventricular septal defect	OMIM:272950
Proboscis Lateralis	Patent ductus arteriosus, Ventricular septal defect	ORPHA:141099
Combined Oxidative Phosphorylation Deficiency 15	Ventricular septal defect, Ventricular septal hypertrophy	OMIM:614947
Goodpasture Syndrome	Cyanosis, Anemia	OMIM:233450
Marden-Walker Syndrome	Situs inversus totalis, Ventricular septal defect, Dextrocardia, Abnormal anatomic location of th...	ORPHA:2461
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Umbilical hernia, Ventricular septal defect, Short neck	OMIM:620330
Coffin-Lowry Syndrome	Acrocyanosis, Cutis marmorata	OMIM:303600
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Atrial septal defect, Partial anomalous pulmonary venous return, Ventricular septal defect	OMIM:301044
Yunis-Varon Syndrome	Redundant neck skin, Absent nipple, Ventricular septal defect, Pachygyria, Cryptorchidism, Cardio...	OMIM:216340
Penile Agenesis	Atrial septal defect, Cryptorchidism, Ventricular septal defect, Maternal diabetes	ORPHA:49
Renal Agenesis	Ventricular septal defect	ORPHA:411709
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Ventricular septal defect, Ventricular septal hypertrophy	OMIM:608670
Craniotubular Dysplasia, Ikegawa Type	Ventricular septal defect	OMIM:619727
Osteoporosis-Pseudoglioma Syndrome	Ventricular septal defect	OMIM:259770

Histopathology

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

There is no histopathology data for Ripply3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ripply3.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Ripply3^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Ripply3^{tm1a(EUCOMM)Wtsi}	PMC6459510

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Ripply3^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Ripply3^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Ripply3^{tm44442(pL1L2_GT2_DelLacZ_bsd)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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