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Gene: Osr1 MGI:1344424

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
odd-skipped related transcription factor 1
Synonyms:
Odd1

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • 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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Osr1 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.

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

The table below shows human diseases predicted to be associated to Osr1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Indomethacin Embryofetopathy
Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Premature birth, Hy... ORPHA:1909
Meacham Syndrome
Bicuspid aortic valve, Blind vagina, Scimitar anomaly, Atrial septal defect, Neonatal death, Cong... OMIM:608978
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... ORPHA:1330
Congenital Heart Block
Premature birth, First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Conges... ORPHA:60041
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypospadias, Fetal akinesia sequence, Cryptorchidism, Dilated cardiomyopathy, Hydrops fetalis, Mi... OMIM:618815
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Edema, Abnormality of the menstrua... ORPHA:90308
Heterotaxy, Visceral, 1, X-Linked
Polyhydramnios, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, At... OMIM:306955
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Leopard Syndrome 1
Bundle branch block, Hypospadias, Unilateral renal agenesis, Delayed menarche, Complete atriovent... OMIM:151100
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Transaldolase Deficiency
Abnormality of the kidney, Edema, Hydrops fetalis, Coarctation of aorta, Biventricular hypertroph... ORPHA:101028
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... OMIM:616749
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus... OMIM:601927
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated urinary 4-hydroxybutyric acid, Nonimmune hydrops fetalis, Lacticaciduria, Cardiomyopathy... OMIM:619003
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... OMIM:614779
Diffuse Neonatal Hemangiomatosis
Renal insufficiency, Premature birth, Polyhydramnios, Renal hypoplasia/aplasia, Patent ductus art... ORPHA:2123
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... OMIM:619702
Congenital Disorder Of Glycosylation, Type Ik
Cardiomyopathy, Abnormality of the amniotic fluid, Hypogonadism, Nonimmune hydrops fetalis OMIM:608540
Mosaic Trisomy 9
Hypoplasia of penis, Polyhydramnios, Abnormal lung lobation, Hydrops fetalis, Abnormality of the ... ORPHA:99776
Trisomy 13
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Abnormality of the ureter, A... ORPHA:3378
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
Infantile Sialic Acid Storage Disease
Premature birth, Cardiomegaly, Congestive heart failure, Hydrops fetalis, Nephrotic syndrome, Asc... OMIM:269920
Fetal Parvovirus Syndrome
Increased nuchal translucency, Hypertrophic cardiomyopathy, Ascites, Hydrops fetalis ORPHA:295
Hydrops Fetalis
Abnormality of the kidney, Polyhydramnios, Lymphedema, Pericardial effusion, Nonimmune hydrops fe... ORPHA:1041
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Nonimmune hydrops fetalis, Polyhydramnios, Adrenal hypoplasia, Hydrops fetalis, Pulmonary hypoplasia OMIM:613124
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cells, Cardiomega... OMIM:256550
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hypospadias, Polyhydramnios, Cardiomegaly, Hydrops fetalis, Micropenis... OMIM:616897
Ellis-Van Creveld Syndrome
Hypospadias, Epispadias, Cryptorchidism, Atrial septal defect, Common atrium OMIM:225500
Trisomy 1Q
Multicystic kidney dysplasia, Small scrotum, Ventricular septal defect, Polyhydramnios, Cryptorch... ORPHA:261344
Ovarian Dysgenesis 3
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... OMIM:614324
Monosomy 13Q34
Metrorrhagia, Epistaxis, Fetal pyelectasis, Hematochezia, Pulmonic stenosis, Common atrium ORPHA:96168
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Nonimmune hydrops fetalis, Cardiac arrest, Cardio... OMIM:618052
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Edema, Polyhydramnios, Secundum atrial septal defect, Primum atria... OMIM:619534
Congenital Pulmonary Lymphangiectasia
Tricuspid regurgitation, Congestive heart failure, Hydrops fetalis, Chylopericardium, Pulmonic st... ORPHA:2414
Cardioacrofacial Dysplasia 2
Common atrium, Atrioventricular canal defect, Left superior vena cava draining to coronary sinus OMIM:619143
Glycogen Storage Disease Iv
Decreased fetal movement, Polyhydramnios, Edema, Portal hypertension, Hydrops fetalis, Cardiomyop... OMIM:232500
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Abnormal lung lobation, Atrial sep... OMIM:265380
Mulibrey Nanism
Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Hydrops fetalis, Pericardial constri... OMIM:253250
Megabladder, Congenital
Multiple glomerular cysts, Ventricular septal defect, Bicuspid aortic valve, Left ventricular non... OMIM:618719
Sialidosis Type 2
Hydrops fetalis, Pedal edema, Umbilical hernia, Nephropathy, Ascites ORPHA:87876
Cardiac Valvular Dysplasia 1
Edema, Arteria lusoria, Hydrops fetalis, Pulmonary artery atresia, Atrial septal defect, Patent f... OMIM:212093
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Fetal ascites, Pleural thickening, Fetal p... OMIM:620014
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Abnormal circ... ORPHA:369929
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo... OMIM:115197
Prune Belly Syndrome
Recurrent respiratory infections, Multicystic kidney dysplasia, Renal insufficiency, Ventricular ... ORPHA:2970
Congenital Gerbode Defect
Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpho... ORPHA:99095
Nuchal Bleb, Familial
Stillbirth, Fetal cystic hygroma, Hydrops fetalis OMIM:257350
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypoplasia of the bladder, Ventricular septal defect, Hypospadias, Renal agenesis, Ovotestis, Pul... OMIM:611812
Bardet-Biedl Syndrome 19
Renal insufficiency, Ventricular septal defect, External genital hypoplasia, Partial atrioventric... OMIM:615996
Cardiomyopathy, Familial Restrictive, 6
Pulmonary insufficiency, Tricuspid regurgitation, Hydrops fetalis, Pulmonic stenosis, Restrictive... OMIM:619433
Lymphatic Malformation 1
Urethral stricture, Prominent superficial veins, Predominantly lower limb lymphedema, Nonimmune h... OMIM:153100
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Patent ductus arteriosus,... OMIM:617021
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Hydrops fetalis, Abnormal ... ORPHA:45452
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Coronary artery calcification, Cardiomegaly, Myocardial infarction, Cong... OMIM:614473
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Polyhydramnios, Hydrops fetalis, Fetal pericardial effusion, Fetal pleural effusion OMIM:619462
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pleural lymphangiectasia, Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydr... OMIM:235510
Lymphatic Malformation 13
Nonimmune hydrops fetalis, Lymphedema, Patent ductus arteriosus, Fetal pericardial effusion, Hydr... OMIM:620244
Familial Isolated Restrictive Cardiomyopathy
Recurrent respiratory infections, Pulmonary edema, Atrial fibrillation, Left atrial enlargement, ... ORPHA:75249
Achondrogenesis, Type Ib
Polyhydramnios, Edema, Breech presentation, Hydrops fetalis, Stillbirth, Umbilical hernia OMIM:600972
Scimitar Syndrome
Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ... ORPHA:185
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Single umbilical artery, Abnormal aor... ORPHA:3405
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... OMIM:617300
Li-Campeau Syndrome
Ventricular septal defect, Patent foramen ovale, Cryptorchidism, Patent ductus arteriosus, Atrial... OMIM:619189
Boomerang Dysplasia
Decreased response to growth hormone stimulation test, Polyhydramnios, Cryptorchidism, Hydrops fe... ORPHA:1263
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Polyhydramnios, Perior... OMIM:616843
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... ORPHA:439
Hydrops Fetalis, Nonimmune
Congestive heart failure, Nonimmune hydrops fetalis, Hydrops fetalis OMIM:236750
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, External genital hypoplasia, Patent ductus arteriosus, Pulmonic stenos... OMIM:249670
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Cardiac shunt, Maternal diabetes, Cardiomegaly, Abnormal aor... ORPHA:860
Achondrogenesis
Thickened nuchal skin fold, Polyhydramnios, Hydrops fetalis, Aplasia/Hypoplasia of the lungs, Umb... ORPHA:932
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila... ORPHA:2041
Spinal Muscular Atrophy, Type I
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect, Decreased feta... OMIM:253300
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Aplasia/Hypoplasia of the lungs, Abnormality of the urinary system, Hydrops fetalis, Polyhydramnios ORPHA:2204
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Hypothyroidism, Cryp... ORPHA:3282
Adams-Oliver Syndrome 4
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Chondrodysplasia, Blomstrand Type
Premature birth, Fetal ascites, Polyhydramnios, Hydrops fetalis, Stillbirth, Preductal coarctatio... OMIM:215045
Achondrogenesis Type 1B
Thickened nuchal skin fold, Polyhydramnios, Hydrops fetalis, Aplasia/Hypoplasia of the lungs, Umb... ORPHA:93298
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... OMIM:619371
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Meacham Syndrome
Hypoplasia of penis, Abnormal lung lobation, Conotruncal defect, Abnormal fallopian tube morpholo... ORPHA:3097
Achondrogenesis Type 1A
Thickened nuchal skin fold, Polyhydramnios, Hydrops fetalis, Aplasia/Hypoplasia of the lungs, Umb... ORPHA:93299
Global Developmental Delay With Or Without Impaired Intellectual Development
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Pulmonary sequestration, Atrial... OMIM:618330
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk OMIM:277740
Alg9-Cdg
Abnormal lung lobation, Hydrops fetalis, Right ventricular dilatation, Abnormal left ventricular ... ORPHA:79328
Capillary Malformation-Arteriovenous Malformation
Neurogenic bladder, Peripheral arteriovenous fistula, Nonimmune hydrops fetalis, Cerebral arterio... ORPHA:137667
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Cryptorchidism, Hydrops fetalis, Abnormal heart morphology, Single umbilical arter... ORPHA:1865
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... ORPHA:251274
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Ectopic kidney, Cryptorchidism, Abnormal heart morphology, Atrial sept... ORPHA:401935
8p23.1 deletion syndrome
Atrial septal defect, Cryptorchidism, Atrioventricular canal defect, Abnormal heart morphology DECIPHER:39
Cirrhotic Cardiomyopathy
Prolonged QT interval, Elevated jugular venous pressure, Left atrial enlargement, Cardiomegaly, L... ORPHA:57777
Gm1 Gangliosidosis
Recurrent respiratory infections, Ventricular septal defect, Premature birth, Congestive heart fa... ORPHA:354
Combined Oxidative Phosphorylation Deficiency 57
Left ventricular noncompaction cardiomyopathy, Nonimmune hydrops fetalis, Cardiac arrest, Nephrog... OMIM:620167
Free Sialic Acid Storage Disease
Recurrent respiratory infections, Proteinuria, Hydrops fetalis, Nephrotic syndrome, Ascites ORPHA:834
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... ORPHA:1209
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... ORPHA:99106
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Transient ischemic attack, Pne... ORPHA:99104
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polyhydramnios, Anencephaly, Hydrops fetalis, Pulmonary hypoplasia, Polycystic kidney dysplasia, ... OMIM:616546
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia, female, Dehydratio... ORPHA:90791
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding, Venous malformation OMIM:600195
Congenital Enterovirus Infection
Decreased fetal movement, Premature birth, Polyhydramnios, Fetal ascites, Pericardial effusion, M... ORPHA:292
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Pulmonary artery atresia, Atrial septal defect, Neonatal death, Pe... OMIM:601186
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Hypospadias, Decreased response to growth hormone stimulation test, Ad... OMIM:220210
Frasier Syndrome
Glomerulopathy, Renal insufficiency, Streak ovary, Proteinuria, Hypergonadotropic hypogonadism, I... ORPHA:347
Hb Bart'S Hydrops Fetalis
Pericarditis, Polyhydramnios, Congestive heart failure, Hydrops fetalis, Oligohydramnios ORPHA:163596
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Sudden cardiac death, Cryptorch... OMIM:610198
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Ventricular septal defect, Situs inversus totalis, Cryptorchidism, Cardiomyopa... OMIM:249270
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Pedal edema, Right ventricular dilatati... ORPHA:99103
Pmm2-Cdg
Pericarditis, Proteinuria, Hypogonadotropic hypogonadism, Elevated circulating growth hormone con... ORPHA:79318
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly, Fetal akinesia sequence, Hydrops fetal... OMIM:617022
Limb-Mammary Syndrome
Absent nipple, Primary amenorrhea, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic nippl... ORPHA:69085
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Abnormal jugular vein morp... ORPHA:1677
Congenital Myopathy 11
Decreased fetal movement, Polyhydramnios, Breech presentation, Patent ductus arteriosus, Atrial s... OMIM:619967
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Nonimmune hydrops fetalis, Pericardial effusion, Hypoplasia of the thymus, Endocardial fibroelast... OMIM:619313
Mucopolysaccharidosis Type 7
Recurrent respiratory infections, Abnormal pleura morphology, Lymphedema, Hydrops fetalis, Mucopo... ORPHA:584
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... OMIM:614954
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... OMIM:617047
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Dilated cardiomyopathy, Hydrops fetalis, Abnormality of the amniotic fl... OMIM:609015
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Hy... ORPHA:69735
Gaucher Disease Type 3
Recurrent respiratory infections, Mitral valve calcification, Abnormal heart valve morphology, Pr... ORPHA:77261
Congenital Disorder Of Glycosylation, Type Ia
Pericarditis, Premature ovarian insufficiency, Proteinuria, Hypergonadotropic hypogonadism, Edema... OMIM:212065
Bardet-Biedl Syndrome 2
Diabetes mellitus, Bicuspid aortic valve, External genital hypoplasia, Dilated cardiomyopathy, Hy... OMIM:615981
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi... ORPHA:1354
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Right atrial enlargement, Reduced left ventr... OMIM:612422
Mucopolysaccharidosis, Type Vii
Abnormal heart valve morphology, Heparan sulfate excretion in urine, Recurrent upper respiratory ... OMIM:253220
Congenital Myopathy 1B, Autosomal Recessive
Decreased fetal movement, Recurrent respiratory infections, Polyhydramnios, Hydrops fetalis, Pulm... OMIM:255320
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Increased nuchal translucen... OMIM:618494
Long Qt Syndrome 3
Ventricular flutter, Nonimmune hydrops fetalis, Sudden cardiac death, Ventricular tachycardia, Hy... OMIM:603830
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypospadias, Renal salt wasting, Adrenogenital syndrome, Hypertension OMIM:201910
Gm1-Gangliosidosis, Type I
Abnormal heart valve morphology, Congestive heart failure, Dilated cardiomyopathy, Hydrops fetali... OMIM:230500
Atrial Septal Defect 2
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... OMIM:607941
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Edema, Pulmonary edema OMIM:178400
Mgat2-Cdg
Ventricular septal defect, Abnormality of the endocrine system, Patent ductus arteriosus, Hydrops... ORPHA:79329
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Fetal Gaucher Disease
Decreased fetal movement, Fetal akinesia sequence, Hydrops fetalis, Intracranial hemorrhage, Stil... ORPHA:85212
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit... OMIM:137940
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pulmonic stenosis, Atrial se... OMIM:179613
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting OMIM:201710
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ambiguous genitalia, Tricuspid regurgitation, Ventricular septal defect, Pancreatic fibrosis, Hyd... OMIM:263520
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Renal hypoplasia, Atrial septal defect, Tetra... OMIM:612946
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Decreased circulat... OMIM:614841
Noonan Syndrome 8
Ventricular septal defect, Polyhydramnios, Cryptorchidism, Patent ductus arteriosus, Pleural effu... OMIM:615355
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Megalencephaly
Atrial septal defect, Long penis, Macroorchidism ORPHA:2477
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... ORPHA:1686
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Paten... OMIM:618652
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bicuspid aortic valve, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, ... ORPHA:1772
Generalized Arterial Calcification Of Infancy
Medial calcification of large arteries, Adrenal calcification, Edema, Cardiomegaly, Polyhydramnio... ORPHA:51608
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Premature birth, Cardiomegaly, Pericardial effusion, Anomalous pulmonary... ORPHA:555874
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Left atrial enlargement, Left ventricular noncompaction cardiomyopathy, Cardiogenic shock, Myofib... OMIM:619424
Oligomeganephronia
Branchial cyst, Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Premature birth, Un... ORPHA:2260
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent for... OMIM:601005
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Premature birth, Nonimmune hydrops fetalis, Cardiomyopathy,... OMIM:618839
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Crossed fused renal ectopia, Ambiguous genitalia, Ventricular septal defect, Hypoplastic right he... OMIM:618142
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Atrial septal def... OMIM:613870
Xk Aprosencephaly Syndrome
Atrial septal defect, Abnormal external genitalia, Ventricular septal defect, Polyhydramnios ORPHA:3469
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphe... OMIM:153400
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Tricuspid regurgitation, Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Abnormal ... ORPHA:1120
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Nonimmune hydrops fetalis, Polyhydramnios, Fetal akinesia sequence, Portal hypertension, Congesti... ORPHA:367
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Premature birth, Nonimmune hydrops fetalis, Neonatal death,... OMIM:618835
Cardiac-Urogenital Syndrome
Bifid scrotum, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Pe... OMIM:618280
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... OMIM:617912
Hydrolethalus Syndrome 1
Ventricular septal defect, Hypospadias, Polyhydramnios, Bifid uterus, Complete atrioventricular c... OMIM:236680
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hydrops fetalis, Endocardial fibroelastosis OMIM:276822
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Diabetes mellitus, Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Cryptorchidism,... ORPHA:500159
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... OMIM:610205
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Cardiomegaly, Pedal edema, Atrial septal defect, Patent fora... ORPHA:980
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Ventricular septal defect, Partial anomalous pulmonary venous return, Renal ... OMIM:617478
Emanuel Syndrome
Thickened nuchal skin fold, Recurrent respiratory infections, Recurrent urinary tract infections,... OMIM:609029
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cryptorchidism, Patent ductus arteriosus, Methylmalonic aciduria, Coarctation of aorta, Atrial se... OMIM:614857
Gm1 Gangliosidosis Type 1
Hydrops fetalis, Cardiomyopathy, Abnormal placenta morphology, Urinary glycosaminoglycan excretio... ORPHA:79255
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Combined Oxidative Phosphorylation Defect Type 27
Nonimmune hydrops fetalis ORPHA:477774
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal hypoplasia, Renal cyst, Hydrops fetalis, Pulmonary hypoplasia, Polycystic kidn... OMIM:614091
Normosmic Congenital Hypogonadotropic Hypogonadism
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... ORPHA:432
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... ORPHA:403
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Recurrent respiratory infections, Ventricular septal defect, Hypospadias, Parachute mitral valve,... OMIM:618316
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Glomerulopathy, Renal insufficiency, Ketonuria, Pulmonary embolism, Hemolytic-uremic syndrome, Di... ORPHA:79282
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonado... OMIM:194072
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Recurrent urinary tract infections, Premature ovarian insufficiency, Hypospadias, Abnormality of ... ORPHA:363444
Abruzzo-Erickson Syndrome
Hypospadias, Coronal hypospadias, Cryptorchidism, Abnormal localization of kidney, Atrial septal ... ORPHA:921
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Polyhydramnios, Congestive heart failure, Nephrocalcinosis, Atrial septal defect, Diabetes insipidus ORPHA:500533
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Fraser Syndrome 3
Sonographic non-visualized fetal bladder, Hypoplasia of the bladder, Hypoplasia of penis, Small s... OMIM:617667
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:1388
Fetal Trimethadione Syndrome
Ambiguous genitalia, Ventricular septal defect, Hypospadias, Transposition of the great arteries,... ORPHA:1913
46,Xx Sex Reversal 5
Ventricular septal defect, Secundum atrial septal defect, Hypoplastic left heart, Increased serum... OMIM:618901
Mosaic Trisomy 16
Ventricular septal defect, Hypospadias, Maternal diabetes, Premature birth, Large placenta, Abnor... ORPHA:1708
Campomelia, Cumming Type
Multicystic kidney dysplasia, Lymphedema, Pancreatic cysts, Hydrops fetalis, Multiple renal cysts... ORPHA:1318
Seizures-Scoliosis-Macrocephaly Syndrome
Atrial septal defect, Cryptorchidism, Abnormality of the kidney, Polyhydramnios ORPHA:466926
Autism Spectrum Disorder Due To Auts2 Deficiency
Atrial septal defect, Cryptorchidism, Umbilical hernia, Abnormal heart morphology ORPHA:352490
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Premature birth, Nonimmune hydrops fetalis, Cardiomegaly OMIM:618838
Intellectual Developmental Disorder, Autosomal Dominant 21
Atrial septal defect, Cryptorchidism, Patent ductus arteriosus, Coarctation of aorta OMIM:615502
Bardet-Biedl Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Nephrotic syndrome, Hypertensi... ORPHA:110
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Absent outer dynein arms, Patent ductus arteriosus, Right aortic arch, Az... OMIM:618300
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Edema, Polyhydramnios... ORPHA:363705
Polysyndactyly With Cardiac Malformation
Ventricular septal defect, Polyhydramnios, Renal cyst, Stillbirth, Atrial septal defect OMIM:263630
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, S... OMIM:126320
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu... ORPHA:99050
Pearson Syndrome
Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Proteinuria, Decreased response to gr... ORPHA:699
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysma... ORPHA:49827
Beta-Mercaptolactate Cysteine Disulfiduria
Atrial septal defect, Umbilical hernia, Abnormality of the ureter ORPHA:1035
Thanatophoric Dysplasia Type 2
Encephalocele, Abnormality of the kidney, Polyhydramnios, Patent ductus arteriosus, Increased nuc... ORPHA:93274
Adams-Oliver Syndrome 5
Right atrial enlargement, Pulmonary arterial hypertension, Pulmonic stenosis, Umbilical hernia, P... OMIM:616028
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... ORPHA:404
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, P... ORPHA:210122
Pseudotrisomy 13 Syndrome
Encephalocele, Ventricular septal defect, Dextrocardia, Adrenal hypoplasia, Renal agenesis, Compl... OMIM:264480
3C Syndrome
Recurrent respiratory infections, Hypoplasia of penis, Ventricular septal defect, Abnormal mitral... ORPHA:7
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Patent ductus arteriosus, Abnor... ORPHA:329224
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Duplicated collecting system, Bilateral fetal pyelectasis, Polyhydramnios, Breech presentation, P... OMIM:300868
Hennekam Syndrome
Recurrent respiratory infections, Ectopic kidney, Pericardial effusion, Lymphedema, Pulmonary lym... ORPHA:2136
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Cryptorchidism, ... OMIM:613834
Even-Plus Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Renal hypoplasia, Atrial septal defect... OMIM:616854
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Vesicoureteral reflux ORPHA:228399
Cranioectodermal Dysplasia 2
Renal insufficiency, Polyhydramnios, Patent ductus arteriosus, Recurrent pneumonia, Hydrops fetal... OMIM:613610
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Premature birth, Polyuria, Edem... OMIM:602522
Von Willebrand Disease
Abnormal mitral valve morphology, Venous insufficiency ORPHA:903
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Premature birth, Polyhydramnios, Nephrocalcinosis, Atrial septal defect, Diabetes insipidus OMIM:611087
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Primary amenorrhea, Micro... OMIM:618841
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Ventricular septal defect, Abnormality of the endocrine system, Cryptorchidism, Renal cyst, Horse... ORPHA:166035
Anemia, Congenital Dyserythropoietic, Type Iv
Hypospadias, Hydrops fetalis, Micropenis, Hypertrophic cardiomyopathy, Hypothyroidism OMIM:613673
Sifrim-Hitz-Weiss Syndrome
Renal insufficiency, Ambiguous genitalia, Ventricular septal defect, Hypogonadotropic hypogonadis... OMIM:617159
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Meningocele, Anencephaly, Renal cyst, Bile duct prolife... OMIM:611134
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrocele testis, Hydrops fetalis OMIM:616738
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Hydrops fetalis, Coarctation of aorta, Ectopic kidney ORPHA:268249
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... OMIM:201810
Fibrochondrogenesis 1
Stillbirth, Patent foramen ovale, Hydrops fetalis OMIM:228520
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Congen... ORPHA:2519
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Gaucher Disease, Perinatal Lethal
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegal... OMIM:608013
Emanuel Syndrome
Recurrent respiratory infections, Decreased fetal movement, Ventricular septal defect, Truncus ar... ORPHA:96170
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Abnormality of the anterior pituitary, Rena... ORPHA:75389
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Transketolase Deficiency
Increased level of ribose in urine, Ventricular septal defect, Abnormal coronary artery course, P... ORPHA:488618
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Ventricular septal defect, Vesicoureteral reflux, Mitral regurgitation, ... OMIM:615879
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Alg8-Cdg
Premature birth, Edema, Hydrops fetalis, Ascites, Oligohydramnios ORPHA:79325
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, M... ORPHA:555877
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Male pseudohermaphroditism, Primary amenorrhea, Adrenogenital syndrome, Hype... OMIM:202110
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent respiratory infections, Recurrent urinary tract infections, Cor triatriatum, Prominent ... OMIM:612541
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Situs inversus tota... OMIM:267010
Distal Triplication 15Q
Abnormal external genitalia, Abnormality of the kidney, Patent ductus arteriosus, Hypoplastic aor... ORPHA:314588
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Premature birth, Sudden cardiac death, Cong... ORPHA:1880
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Ventricular septal defect, Nephrogenic diabetes insipidus, Oligohydramnios, Dehydration, Nephroca... OMIM:208085
Yunis-Varon Syndrome
Ventricular septal defect, Hypospadias, Polyhydramnios, Cardiomegaly, Cryptorchidism, Increased n... ORPHA:3472
Pentalogy Of Cantrell
Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Hy... ORPHA:1335
Alagille Syndrome
Ventricular septal defect, Telangiectasia of the skin, Renal hypoplasia/aplasia, Cryptorchidism, ... ORPHA:52
Renal-Hepatic-Pancreatic Dysplasia 1
Renal insufficiency, Pancreatic fibrosis, Portal hypertension, Situs inversus totalis, Pancreatic... OMIM:208540
Suleiman-El-Hattab Syndrome
Recurrent respiratory infections, Ventricular septal defect, Cryptorchidism, Atrial septal defect... OMIM:618950
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Cryptorchidism, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defe... ORPHA:3304
Alpha-Thalassemia
Cholelithiasis, Hydrops fetalis ORPHA:846
Hemochromatosis, Neonatal
Oligohydramnios, Nonimmune hydrops fetalis, Hepatocellular necrosis OMIM:231100
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Polyhydramnios, Urethral atresia, Transposition of the great arteries, Pulmonary hy... OMIM:314390
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Pneumonia, Polyhydramnios, Placental abrup... OMIM:603467
Milroy Disease
Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Hydrocele testis, Varicose veins, A... ORPHA:79452
Gaucher Disease
Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium morphology, Pro... ORPHA:355
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Ventricular septal defect, Renal hypoplasia/aplasia, Abnormality of the ureter, Polycystic ovarie... ORPHA:1770
Tyshchenko Syndrome
Ventricular septal defect, Premature birth, Supernumerary nipple, Polyhydramnios, Cryptorchidism,... OMIM:615102
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Atrial septal defect, Urinary incontinence OMIM:620094
Histiocytosis-Lymphadenopathy Plus Syndrome
Ventricular septal defect, Decreased response to growth hormone stimulation test, Hypergonadotrop... OMIM:602782
Primary Ciliary Dyskinesia
Male infertility, Recurrent sinopulmonary infections, Abnormal atrial arrangement, Atrial situs a... ORPHA:244
S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Hydrops fetalis ORPHA:88618
Multiple Pterygium Syndrome, Escobar Variant
Decreased fetal movement, Hypospadias, Cryptorchidism, Absence of labia majora, Hydrops fetalis, ... OMIM:265000
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Vesicoureteral reflux, Nonimmune hydrops fetalis, Hydronephrosis OMIM:618265
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Abnormal cerebral vascular morphology, Primary adrenal i... ORPHA:3453
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... ORPHA:243
Formiminoglutamic Aciduria
Atrial septal defect, Abnormal concentration of acylcarnitine in the urine ORPHA:51208
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... ORPHA:404443
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P... ORPHA:392
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of ... ORPHA:97289
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Congenital adrenal hyperplasia, Long penis, Decre... OMIM:202010
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ureteral duplication, Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the gal... ORPHA:2255
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morphology, Pulmonary hypoplasia,... ORPHA:2847
Parkes Weber Syndrome
Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V... ORPHA:90307
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Recurrent respiratory infections, V... ORPHA:209905
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618974
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cryptorchidism, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Hydronephrosis OMIM:620327
Lymphangiectasia, Pulmonary, Congenital
Recurrent respiratory infections, Palpebral edema, Nonimmune hydrops fetalis, Edema, Polyhydramni... OMIM:265300
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
X-Linked Intellectual Disability, Nascimento Type
Recurrent respiratory infections, Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ... ORPHA:163956
Faciocardiomelic Syndrome
Common atrium OMIM:612731
Chromosome 5Q12 Deletion Syndrome
Ventricular septal defect, Increased nuchal translucency, Patent ductus arteriosus, Hypotension, ... OMIM:615668
Thanatophoric Dysplasia
Abnormality of the kidney, Polyhydramnios, Patent ductus arteriosus, Increased nuchal translucenc... ORPHA:2655
Farber Disease
CNS foam cells, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory tract... ORPHA:333
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary h... ORPHA:231580
Seckel Syndrome 9
Recurrent respiratory infections, Ambiguous genitalia, Recurrent urinary tract infections, Ventri... OMIM:616777
Peroxisome Biogenesis Disorder 12A (Zellweger)
Decreased fetal movement, Abnormality of the male genitalia, Patent ductus arteriosus, Renal tubu... OMIM:614886
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Ventricular septal defect, Renal hypoplasia/apl... ORPHA:2473
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypertension, Hyperaldosteronism, Decreased circul... OMIM:613677
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Abnormality of the urinary system, Hyp... OMIM:103900
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Atrial septal defect, Pancreatic hypoplasia, Patent foramen ovale, Hypoplas... OMIM:600001
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hypoplasia of the bladder, Clitoral hypertrophy, Hydroureter, Bicuspid aortic valve, Septate vagi... OMIM:300707
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Congestive heart failure, Recurrent pneumonia, Arterial rupture, Mitral valve prolapse, Aortic di... ORPHA:1900
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... ORPHA:1457
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Carpenter Syndrome 1
Hydroureter, Ventricular septal defect, External genital hypoplasia, Precocious puberty, Cryptorc... OMIM:201000
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Ketonuria, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopathy... OMIM:619167
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral edema, Abnormal sweat g... OMIM:607823
Greenberg Dysplasia
Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, Increased nucha... OMIM:215140
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Tricuspid regurgitation, Atelectasis, Bronchiectasis, Abnormal pulmonary interstitial morphology,... OMIM:620233
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Proteinuria, Cryptorchidism, Heart murmur, Multiple bladder diverticula, Atrial se... ORPHA:2728
Linear Skin Defects With Multiple Congenital Anomalies 2
Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arterial hypertension OMIM:300887
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Chromosome 18Q Deletion Syndrome
Recurrent respiratory infections, Absence of the pulmonary valve, Ventricular septal defect, Hypo... OMIM:601808
Phocomelia, Schinzel Type
Hypoplasia of penis, Cryptorchidism, Meningocele, Hydrops fetalis, Aplasia of the uterus ORPHA:2879
Noonan Syndrome 4
Ureteral duplication, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Pulmonic stenosi... OMIM:610733
Gjc2-Related Late-Onset Primary Lymphedema
Genital edema, Predominantly lower limb lymphedema, Edema of the dorsum of hands, Venous insuffic... ORPHA:568051
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Decreased fetal movement, Urinary incontinence, Polyhydramnios, Pericardial effusion, Multiple mu... OMIM:620070
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Ventricular septal defect, Bicuspid aortic valve, Abnormal bladder morphology, Cryptorchidism, In... ORPHA:453499
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... OMIM:300510
Noonan Syndrome 11
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:618499
Congenital Rubella Syndrome
Ventricular septal defect, Patent ductus arteriosus, Type I diabetes mellitus, Atrial septal defe... ORPHA:290
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Abnormal renal cort... OMIM:617397
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Vesicoureteral reflux, Renal hypoplasia, Spinal dysraphism, Hypoplastic left heart, Aortic valve ... OMIM:617660
Schneckenbecken Dysplasia
Umbilical hernia, Stillbirth, Nonimmune hydrops fetalis, Polyhydramnios OMIM:269250
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap... OMIM:612561
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... OMIM:620203
Opitz Gbbb Syndrome
Bifid scrotum, Enlarged ovaries, Ventricular septal defect, Hypospadias, Cryptorchidism, Patent d... ORPHA:2745
Platyspondylic Dysplasia, Torrance Type
Hydrops fetalis, Pulmonary hypoplasia, Polyhydramnios ORPHA:85166
Eisenmenger Syndrome
Ventricular tachycardia, Pedal edema, Aortopulmonary window, Bacterial endocarditis, Supraventric... ORPHA:97214
Developmental And Epileptic Encephalopathy 90
Atrial septal defect, Fetal pyelectasis, Hypothyroidism OMIM:301058
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Increased n... OMIM:616564
Cat Eye Syndrome
Ventricular septal defect, Renal agenesis, Patent ductus arteriosus, Vesicoureteral reflux, Horse... OMIM:115470
Rudiger Syndrome
Ovarian cyst, Micropenis, Bicornuate uterus, Ureterovesical stenosis OMIM:268650
Teebi Hypertelorism Syndrome 1
Ventricular septal defect, Hydrocele testis, Aortic root aneurysm, Bicornuate uterus, Single umbi... OMIM:145420
Achondrogenesis, Type Ii
Polyhydramnios, Stillbirth, Hydrops fetalis, Edema OMIM:200610
Transaldolase Deficiency
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Telangiectasia, Atrial... OMIM:606003
Lessel-Kreienkamp Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Patent ... OMIM:619149
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:228300
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect ORPHA:52056
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Hypertension, Increased circulatin... OMIM:219080
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Recurrent viral upper respiratory tract infections, Ventricular septal defect OMIM:616898
Diamond-Blackfan Anemia
Radial artery aplasia, Ventricular septal defect, Hypospadias, Renal agenesis, Nonimmune hydrops ... ORPHA:124
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Cryptorchidism, Ventricular septal defect, Dextrocardia OMIM:618067
Buratti-Harel Syndrome
Dilation of Virchow-Robin spaces, Hypospadias, Cryptorchidism, Recurrent pneumonia, Atrial septal... OMIM:619314
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Venous insufficiency, Congestive heart failure, Ovarian neoplasm, Arteriovenous malformation, Neo... ORPHA:137608
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Hydrops fetalis ORPHA:766
Achondrogenesis, Type Ia
Polyhydramnios, Increased nuchal translucency, Hydrops fetalis, Stillbirth, Pulmonary hypoplasia,... OMIM:200600
20Q13.33 Microdeletion Syndrome
Dilation of Virchow-Robin spaces, Hypospadias, Decreased scrotal rugation, Abnormal cardiac ventr... ORPHA:261311
Intellectual Disability-Strabismus Syndrome
Decreased serum insulin-like growth factor 1, Hypospadias, Decreased response to growth hormone s... ORPHA:363528
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Atrial septal defect, Hydron... ORPHA:457193
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Bicuspid aortic valve, Premature thelarche, Atrioventricular block, Mi... ORPHA:371428
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Cryptorchidism, Subvalvular aortic stenosis, Atrial septal defect, Pel... OMIM:613001
Foix-Alajouanine Syndrome
Neurogenic bladder, Urinary incontinence, Myelopathy, Functional abnormality of the bladder, Cerv... ORPHA:79093
Kapur-Toriello Syndrome
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hypoplastic labia majora, Ab... OMIM:244300
Noonan Syndrome 2
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Polyhydramnios, Cryp... OMIM:605275
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Patent ductus arteriosus, Recurrent upper respiratory tract infections... OMIM:619769
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Recurrent respiratory infections, Ventricular septal defect, Decreased response to growth hormone... OMIM:610978
Atrial Septal Defect 6
Atrial septal defect, Atrial fibrillation, Bradycardia OMIM:613087
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Edema, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular... ORPHA:70591
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Dilation of Virchow-Robin spaces, Ventricular septal defect, Hypospadias, Polyhydramnios, Prematu... OMIM:300998
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Ventricular septal defect, Hypospadias, Precocious puberty, Cryptorchidism,... ORPHA:254346
Noonan Syndrome 5
Polyhydramnios, Cryptorchidism, Pulmonic stenosis, Arrhythmia, Atrial septal defect, Hypertrophic... OMIM:611553
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Thickened nuchal skin fold, Ventricular septal... OMIM:220500
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Decreased response to growth hormone stimulation test, Hypothyroidism,... OMIM:609053
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Pneumonia, Male... ORPHA:90790
Proteus Syndrome
Venous malformation OMIM:176920
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... OMIM:611548
Developmental And Epileptic Encephalopathy 18
Atrial septal defect, Aortic regurgitation, Polyhydramnios, Oligohydramnios OMIM:615476
Acrocardiofacial Syndrome
Hypoplasia of penis, Hyperthyroidism, Ventricular septal defect, Mitral stenosis, Hypospadias, Cr... ORPHA:2008
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Recurrent lower respiratory tract infections, Bicuspid aortic valve OMIM:617744
Intellectual Developmental Disorder, Autosomal Recessive 65
Hypospadias, Supernumerary nipple, Secundum atrial septal defect, Cryptorchidism, Atrial septal d... OMIM:618109
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Hypertension, Increas... OMIM:615954
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
8P11.2 Deletion Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Cryptorchidism, Patent ductus arteriosus, Mit... ORPHA:251066
Tetrasomy 15Q26
Patent ductus arteriosus, Hypoplastic aortic arch, Horseshoe kidney, Atrial septal defect, Hydron... OMIM:614846
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Adrenal hyperplasia, Hypertension, Increased circulating cortisol level, Prima... OMIM:615830
Congenital Disorder Of Glycosylation, Type Iil
Peau d'orange, Ventricular septal defect, Unilateral renal agenesis, Patent ductus arteriosus, Pr... OMIM:614576
Nestor-Guillermo Progeria Syndrome
Prominent superficial veins, Left atrial enlargement, Decreased serum leptin, Right atrial enlarg... OMIM:614008
Hypoplastic Left Heart Syndrome
Mitral atresia, Maternal diabetes, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic... ORPHA:2248
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Atelis Syndrome 1
Atrial septal defect, Hypothyroidism, Ventricular septal defect, Bronchiectasis OMIM:620184
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Diabetes mellitus, Proteinuria, Predominantly... ORPHA:33001
22Q11.2 Deletion Syndrome
Polyhydramnios, Abnormal lung lobation, Abnormal aortic arch morphology, Hypoplasia of the thymus... ORPHA:567
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Ureteral duplication, Right atrial isomerism, Ureteral stenosis, Vent... OMIM:270100
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Atrial septal defect... ORPHA:398069
Gitelman Syndrome
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubulointerstitial nephriti... ORPHA:358
Cystic Echinococcosis
Multiple pulmonary cysts, Pulmonary cyst, Abnormality of the testis size, Renal cyst, Abnormal he... ORPHA:400
Familial Multiple Nevi Flammei
Edema, Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformat... ORPHA:624
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Ventricular septal defect, Cryptorchidism, Aortic root aneurysm, Mitral regurgitation, Atrial sep... OMIM:301039
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:614262
Hemihyperplasia-Multiple Lipomatosis Syndrome
Abnormal venous morphology, Telangiectasia of the skin, Abnormal cerebral vascular morphology, Hy... ORPHA:276280
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Patent ductus arteriosus, C... OMIM:620024
Burn-Mckeown Syndrome
Atrial septal defect, Ventricular septal defect, Renal hypoplasia, Unilateral renal agenesis OMIM:608572
Ellis Van Creveld Syndrome
Hydroureter, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Hypospadia... ORPHA:289
Premature Ovarian Failure 8
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Congenital Fibrinogen Deficiency
Tachycardia, Hemorrhagic ovarian cyst, Internal hemorrhage, Left ventricular hypertrophy, Micrope... ORPHA:335
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... OMIM:612310
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature thelarche, Renal salt wasting, Ambiguous genitali... ORPHA:90795
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Hypertension, Second degre... OMIM:615474
Bone Dysplasia, Lethal Holmgren Type
Atrial septal defect, Recurrent respiratory infections, Hypertrophic cardiomyopathy, Patent ductu... ORPHA:1842
Osteogenesis Imperfecta, Type Ii
Congestive heart failure, Pulmonary insufficiency, Premature birth, Nonimmune hydrops fetalis OMIM:166210
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Tricuspid regurgitation, Ventricular septal defect, Increased nuchal translucency, Patent ductus ... OMIM:618870
Kagami-Ogata Syndrome
Ventricular septal defect, Premature birth, Polyhydramnios, Patent ductus arteriosus, Pulmonary h... OMIM:608149
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... OMIM:615300
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Polyhydramnios, Bladder trabeculation... OMIM:614080
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Polyhydramnios, Patent ductus arteriosus, Nephrocalcinosis, Atrial septal defect, Recurrent lower... OMIM:618005
Mucopolysaccharidosis-Plus Syndrome
Recurrent respiratory infections, Proteinuria, Recurrent bronchopulmonary infections, Patent duct... OMIM:617303
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Unilateral renal atrophy, Cryptorchidism, Oligozoospermia, Pyelonephritis, Varicose veins, Nephri... OMIM:314300
Fanconi Anemia
Abnormality of the uterus, Atrial septal defect, Abnormality of the hypothalamus-pituitary axis, ... ORPHA:84
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
H Syndrome
Diabetes mellitus, Abnormality of the kidney, Recurrent pharyngitis, Abnormal cardiovascular syst... ORPHA:168569
Renal Nutcracker Syndrome
Dyspareunia, Orthostatic hypotension, Tachycardia, Proteinuria, Dysmenorrhea, Vulval varicose vei... ORPHA:71273
Joubert Syndrome 3
Atrial septal defect, Stage 5 chronic kidney disease, Nephronophthisis OMIM:608629
16P12.1P12.3 Triplication Syndrome
Tachycardia, Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Abn... ORPHA:485405
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Vesicoureteral reflux, Atrial septal defect, Patent foramen ovale, Rig... OMIM:614261
Hyperinsulinemic Hypoglycemia, Familial, 8
Atrial septal defect, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentrat... OMIM:620211
Fetal Akinesia Deformation Sequence 1
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akine... OMIM:208150
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect, Precocious puberty OMIM:619356
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... OMIM:617565
Diamond-Blackfan Anemia 7
Ventricular septal defect, Polyhydramnios, Secundum atrial septal defect, Patent ductus arteriosu... OMIM:612562
Cutis Laxa, Autosomal Recessive, Type Ic
Adrenal hypoplasia, Vascular dilatation, Atelectasis, Periorbital edema, Recurrent pneumonia, Bre... OMIM:613177
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... OMIM:108900
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Pearson Marrow-Pancreas Syndrome
Pancreatic fibrosis, Hypercalciuria, Hydrops fetalis, Dehydration, 3-Methylglutaric aciduria, Ren... OMIM:557000
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Fg Syndrome Type 1
Hypospadias, Premature birth, Cryptorchidism, Mitral valve prolapse, Coarctation of aorta, Pulmon... ORPHA:93932
Short-Rib Thoracic Dysplasia 12
Ventricular septal defect, Edema, Polyhydramnios, Atelectasis, Patent ductus arteriosus, Anenceph... OMIM:269860
Penile Agenesis
Ambiguous genitalia, Urethral atresia, male, Ventricular septal defect, Hydroureter, Maternal dia... ORPHA:49
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Secondary amenorrhea, Primary amenorrhea, Decreased ... OMIM:620311
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal renal morphology, Ab... ORPHA:477817
Temple-Baraitser Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:611816
Satoyoshi Syndrome
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... ORPHA:3130
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Angioosteohypotrophic Syndrome
Prominent superficial veins, Telangiectasia of the skin, Venous malformation, Edema ORPHA:75508
Congenital Tracheomalacia
Ventricular septal defect, Pneumonia, Premature birth, Cardiomegaly, Patent ductus arteriosus, Pa... ORPHA:95430
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Autoimmune Lymphoproliferative Syndrome
Renal insufficiency, Premature ovarian insufficiency, Glomerulonephritis, Vasculitis, Thyroiditis... ORPHA:3261
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus arteriosus, Part... OMIM:619657
20P12.3 Microdeletion Syndrome
Atrial septal defect, Wolff-Parkinson-White syndrome ORPHA:261295
Tarp Syndrome
Subdural hemorrhage, Horseshoe kidney, Premature rupture of membranes, Neonatal death, Atrial sep... OMIM:311900
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Repeated pneumothoraces, Hypospadias, Cryptorchidism, Coarctation of a... OMIM:617602
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... ORPHA:99094
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Hypospadias, Recurrent pneumonia, Atrial septal defect, Pulmonary arte... OMIM:616449
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Thickened nuchal skin fold, Adrenal hyperplasi... ORPHA:79500
Tetraamelia Syndrome 1
Hypoplasia of the fallopian tube, Renal agenesis, Absent external genitalia, Peripheral pulmonary... OMIM:273395
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi... ORPHA:137675
Shashi-Pena Syndrome
Dilation of Virchow-Robin spaces, Unilateral renal agenesis, Patent ductus arteriosus, Mild fetal... OMIM:617190
Genitopatellar Syndrome
Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Pulmonary hypoplasia, Atrial septal ... ORPHA:85201
Lujan-Fryns Syndrome
Atrial septal defect, Macroorchidism ORPHA:776
Potocki-Lupski Syndrome
Atrial septal defect, Hypothyroidism, Abnormal renal morphology, Patent foramen ovale OMIM:610883
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Multicystic kidney dysplasia, Ambiguous genitalia, Vaginal neoplasm, Polyhy... ORPHA:1052
Ehlers-Danlos Syndrome, Vascular Type
Premature delivery because of cervical insufficiency or membrane fragility, Nodular pattern on pu... OMIM:130050
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure ORPHA:53296
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... ORPHA:261183
Hypomandibular Faciocranial Dysostosis
Recurrent respiratory infections, Polyhydramnios, Patent ductus arteriosus, Atrial septal defect,... ORPHA:1790
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Atrial septal defect, Frontal encephalocele ORPHA:521308
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:615279
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Wolcott-Rallison Syndrome
Renal insufficiency, Neonatal insulin-dependent diabetes mellitus, Chronic kidney disease, Dehydr... ORPHA:1667
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Secundum atrial septal defect, Congenital lobar overinflation, Coarcta... OMIM:600987
Snijders Blok-Campeau Syndrome
Atrial septal defect, Umbilical hernia, Perimembranous ventricular septal defect, Pulmonic stenosis OMIM:618205
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pulmonary artery hypoplasia,... OMIM:300963
Thanatophoric Dysplasia Type 1
Abnormality of the kidney, Polyhydramnios, Patent ductus arteriosus, Increased nuchal translucenc... ORPHA:1860
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Clitoral hypertrophy, Increased serum testoster... ORPHA:96181
White Forelock With Malformations
Atrial septal defect, Spina bifida occulta ORPHA:2475
Frontoocular Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:605321
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Telangiectasia, Atrial septal defect, Umbili... OMIM:612582
Kaposi Sarcoma
Venous insufficiency, Abnormal lung morphology, Lymphedema ORPHA:33276
Chromosome 9P Deletion Syndrome
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Heart murmur, Perimembranous ve... OMIM:158170
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect OMIM:113301
Recombinant 8 Syndrome
Small scrotum, Ventricular septal defect, Abnormality of the kidney, Cryptorchidism, Pulmonary ar... ORPHA:96167
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Tachycardia, Ventricular septal defect, Pneumonia, Pericardial effusion, D... ORPHA:26793
Specc1L-Related Hypertelorism Syndrome
Ventricular septal defect, Ectopic kidney, Cryptorchidism, Patent ductus arteriosus, Shawl scrotu... ORPHA:1519
Rabson-Mendenhall Syndrome
Increased pineal volume, Enlarged ovaries, Ventricular septal defect, Precocious puberty, Insulin... ORPHA:769
Mogs-Cdg
Generalized edema, External genital hypoplasia, Edema, Cardiomegaly, Polyhydramnios, Hydrocele te... ORPHA:79330
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Proteinuria, Heparan sulf... ORPHA:505248
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Recurrent respiratory infections, Abnormal cerebral vascular morphology, Precocious puberty, Pate... ORPHA:2637
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... OMIM:619343
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Noonan Syndrome 13
Duplicated collecting system, Lymphedema, Cryptorchidism, Mitral valve prolapse, Mitral regurgita... OMIM:619087
Chromosome 10Q26 Deletion Syndrome
Small scrotum, Cryptorchidism, Patent ductus arteriosus, Vesicoureteral reflux, Atrial septal def... OMIM:609625
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Venous insufficiency, Abnormal cerebral vascular morphology, Pulmonary embolism ORPHA:745
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Precocious puberty, Patent ductus arteriosus, Abnormal lung lobation, Hyperca... ORPHA:369837
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Supernumerary nipple, Cryptorchidism, Arteria lusoria, Heart murmur, Single umbilical artery, Ves... OMIM:618653
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Multicystic kidney dysplasia, Ambiguous genitalia, Hypospadias, Nephroblastoma, Cr... OMIM:257300
Enlarged Parietal Foramina
Occipital encephalocele, Myelomeningocele, Abnormal cerebral vein morphology, Venous malformation ORPHA:60015
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Hydrocele testis, Patent foramen ovale OMIM:618832
Ovarian Hyperstimulation Syndrome
Generalized edema, Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating g... ORPHA:64739
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arterio... ORPHA:163979
Hardikar Syndrome
Premature rupture of membranes, Vesicoureteral reflux, Atrial septal defect, Bladder exstrophy, P... OMIM:301068
Restrictive Dermopathy 1
Ureteral duplication, Spontaneous chorioamniotic separation, Decreased fetal movement, Hypospadia... OMIM:275210
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... OMIM:613795
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Hypospadias, Ovotestis, Junctional ectopic tachycard... OMIM:309801
Robinow Syndrome
Decreased serum testosterone concentration, Multicystic kidney dysplasia, Small scrotum, Ventricu... ORPHA:97360
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Atrial septal defect, Right atrial enlargement OMIM:615219
Schinzel-Giedion Syndrome
Streak ovary, Hypospadias, Nephroblastoma, Recurrent pneumonia, Abnormality of the ureter, Nephro... ORPHA:798
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Tricuspid regurgitation, Patent ductus arteriosus, Dysplastic tricu... OMIM:612863
Koolen-De Vries Syndrome
Recurrent urinary tract infections, Ventricular septal defect, Bicuspid aortic valve, Cryptorchid... OMIM:610443
Houge-Janssens Syndrome 3
Atrial septal defect, Umbilical hernia, Muscular ventricular septal defect OMIM:618354
Congenital Myopathy 22B, Severe Fetal
Decreased fetal movement, Nonimmune hydrops fetalis, Polyhydramnios, Breech presentation, Pulmona... OMIM:620369
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Atrial septal defect, Cryptorchidism, Ventricular septal defect OMIM:617452
Ogden Syndrome
Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Lymphedema... OMIM:300855
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Venous insufficiency, Abnormal cerebral vascular morphology, Pulmonary embolism ORPHA:743
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Pulmonic stenosis, Recurre... OMIM:618282
Coffin-Siris Syndrome 5
Atrial septal defect OMIM:616938
Noonan Syndrome 3
Ventricular septal defect, Polyhydramnios, Cryptorchidism, Patent ductus arteriosus, Mitral valve... OMIM:609942
Meier-Gorlin Syndrome 7
Urethral stricture, Ventricular septal defect, Hypospadias, Heart block, Complete atrioventricula... OMIM:617063
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Trisomy 18
Ventricular septal defect, Spina bifida, Abnormality of the upper urinary tract, Cryptorchidism, ... ORPHA:3380
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Peripheral pulmonary artery stenosis, Hydroureter, Patent ductus arteriosus, Increased nuchal tra... ORPHA:280633
Classical-Like Ehlers-Danlos Syndrome Type 2
Diabetes mellitus, Carotid artery stenosis, Pericardial effusion, Cryptorchidism, Prominent veins... ORPHA:536532
Distal Deletion 10Q
Premature birth, Patent ductus arteriosus, Functional abnormality of the bladder, Spina bifida oc... ORPHA:96148
Proteus-Like Syndrome
Thymus hyperplasia, Venous insufficiency, Abnormality of the parathyroid gland, Polycystic ovarie... ORPHA:2969
Cholestasis, Progressive Familial Intrahepatic, 5
Pleural effusion, Ascites, Nonimmune hydrops fetalis OMIM:617049
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian tube, Decre... ORPHA:3464
Craniofacioskeletal Syndrome
Absent gallbladder, Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arterio... OMIM:300712
Oculoectodermal Syndrome
Transient ischemic attack, Supernumerary nipple, Lymphedema, Patent ductus arteriosus, Pineal cys... OMIM:600268
17Q12 Microduplication Syndrome
Atrial septal defect, Polyhydramnios ORPHA:261272
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Tricuspid regurgitation, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Patent ductus... OMIM:617506
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Ectopic kidney, Gonadotropin deficiency, Abnormal lung lobatio... ORPHA:672
Sotos Syndrome
Decreased fetal movement, Ventricular septal defect, Abnormality of the kidney, Cryptorchidism, M... OMIM:117550
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Patent foramen ovale ORPHA:89844
Developmental And Epileptic Encephalopathy 102
Atrial septal defect, Situs inversus totalis OMIM:619881
Blomstrand Lethal Chondrodysplasia
Premature birth, Polyhydramnios, Hydrops fetalis, Coarctation of aorta, Pulmonary hypoplasia ORPHA:50945
Meige Disease
Predominantly lower limb lymphedema, Lymphedema, Facial edema, Edema of the dorsum of hands, Peri... ORPHA:90186
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Abnormality of the kidney, Tubulointerstitial nephritis, Enuresis, Atrial septal defect, Aortic v... ORPHA:459061
Diphallia
Bifid scrotum, Ureteral duplication, Renal malrotation, Rectoperineal fistula, Hypospadias, Dista... ORPHA:227
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Hypospadias, Recurrent pneumonia, Pulmonary arterial hypertension, Mal... ORPHA:464738
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Atrial septal defect, Cryptorchidism, Ventricular septal defect ORPHA:505237
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Hydroureter, Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Patent ductus arte... OMIM:610759
Duane-Radial Ray Syndrome
Renal malrotation, Ventricular septal defect, Renal agenesis, Vesicoureteral reflux, Renal hypopl... OMIM:607323
Syndromic Diarrhea
Aortic regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,... ORPHA:84064
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Prominent superficial veins, Tricuspid regurgitation, Bilateral cryptorchid... OMIM:617402
Diets-Jongmans Syndrome
Ventricular septal defect, Hypospadias, Polyhydramnios, Cryptorchidism, Breech presentation, Inte... OMIM:618846
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dil... OMIM:619656
Adams-Oliver Syndrome 1
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Pulmonary ... OMIM:100300
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Tricuspid regurgitation, Hypospadias, Ventricular septal defect, Palpebral ... OMIM:614866
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Mitral regurgitation, Ventricular septal defect, Vascular ring OMIM:603387
Yunis-Varon Syndrome
Absent nipple, Ventricular septal defect, Hypospadias, Premature birth, Polyhydramnios, Cryptorch... OMIM:216340
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Edema, Congestive heart failure, Heart murmur, Bacterial endocarditis ORPHA:1054
Aortic Valve Disease 2
Aortic regurgitation, Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarc... OMIM:614823
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Recurrent respiratory infections, Ventricular septal defect, Polyhydramnios, ... ORPHA:3047
Fryns Syndrome
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Ventricular septal d... OMIM:229850
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Fetal pyelectasis, ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Fetal pyelectasis, ... ORPHA:363958
Coffin-Siris Syndrome
Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Recurrent upper... ORPHA:1465
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Ventricular septal defect, Decreased response to growth hormone stimulation... OMIM:614114
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Renal malrotation, Edema of the dorsum of feet, Ventricular septal defect, ... OMIM:274000
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Renal dysplasia, Recurrent respiratory infections, Abnormality of thyroid physiology, Patent duct... OMIM:300968
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Atrial septal defect OMIM:615160
Stevenson-Carey Syndrome
Atrial septal defect, Recurrent urinary tract infections, Left superior vena cava draining to cor... OMIM:611961
7Q31 Microdeletion Syndrome
Recurrent respiratory infections, Patent ductus arteriosus after birth at term, Enuresis nocturna... ORPHA:251061
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Atrial septal defect, Arrhythmia, Patent foramen ovale, Hypospadias OMIM:619184
Neurooculorenal Syndrome
Hypoplasia of the bladder, Decreased circulating cortisol level, Ectopic posterior pituitary, Dex... OMIM:620305
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Renal hypoplasia, Renal cyst, Uterus... ORPHA:93271
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Patent ductus arteriosus OMIM:241310
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Decreased serum estradiol, Decreased circulating androgen... ORPHA:90796
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, ... ORPHA:904
3Mc Syndrome 1
Conjunctival telangiectasia, Ventricular septal defect, Supernumerary nipple, Patent ductus arter... OMIM:257920
3P25.3 Microdeletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Cor... ORPHA:435638
Down Syndrome
Thickened nuchal skin fold, Prenatal double bubble sign, Ventricular septal defect, Complete atri... OMIM:190685
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Atrial septal defect, Patent ductus arteriosus, Palpebral edema, Oligosacchariduria ORPHA:397709
Al-Raqad Syndrome
Atrial septal defect OMIM:616459
Restrictive Dermopathy
Ureteral duplication, Decreased fetal movement, Hypospadias, Dextrocardia, Premature delivery bec... ORPHA:1662
Livedoid Vasculopathy
Diabetes mellitus, Abnormal capillary morphology, Telangiectasia of the skin, Venous insufficienc... ORPHA:542643
Contractures-Developmental Delay-Pierre Robin Syndrome
Atrial septal defect, Hypospadias, Peripheral pulmonary artery stenosis ORPHA:436003
17Q23.1Q23.2 Microdeletion Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Shawl scrotum ORPHA:261279
Fontaine Progeroid Syndrome
Small scrotum, Bicuspid aortic valve, Atrial septal defect, Neonatal death, Micropenis, Recurrent... OMIM:612289
Galactosialidosis
Conjunctival telangiectasia, Cherry red spot of the macula, Nonimmune hydrops fetalis OMIM:256540
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Pulmonic stenosis OMIM:619239
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Nephroblastoma, Renal hypoplasia, Venous malformation, Spinal dysraphism OMIM:612918
Autosomal Recessive Robinow Syndrome
Recurrent respiratory infections, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular ... ORPHA:1507
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Dextrocardia, Abnormal heart morphology, Abnormal aortic valve morp... ORPHA:261197
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperphosphaturia, Hyperthyroidism, Macroorchidism, Elevated cir... ORPHA:562
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Unilateral renal agenesis, Polyhydramnios, Patent ductus arteriosus, Ovarian... OMIM:618188
Contractural Arachnodactyly, Congenital
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse... OMIM:121050
Zechi-Ceide Syndrome
Atrial septal defect, Abnormal heart morphology ORPHA:217017
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Nonimmune hydrops fetalis OMIM:266200
Tarp Syndrome
Cryptorchidism, Horseshoe kidney, Pulmonary hypoplasia, Atrial septal defect, Tetralogy of Fallot... ORPHA:2886
Orotic Aciduria
Orotic acid crystalluria, Ventricular septal defect, Hematuria, Atrial septal defect, Oroticaciduria OMIM:258900
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Ventricular septal defect, Renal cyst, Mitral valve prolapse, Pedal edema, Var... OMIM:617107
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Abnormal lung lobation, Renal cyst, Atrial septal defect, Micropeni... OMIM:270400
Neu-Laxova Syndrome 1
Decreased fetal movement, Hydranencephaly, Ventricular septal defect, Renal agenesis, Spina bifid... OMIM:256520
Cutis Laxa, Autosomal Recessive, Type Iid
Hypoplastic right heart, Bilateral cryptorchidism, Congestive heart failure, Pneumothorax, Microp... OMIM:617403
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Bohring-Opitz Syndrome
Ventricular septal defect, Supernumerary nipple, Polyhydramnios, Vesicoureteral reflux, Hyperecho... OMIM:605039
Fowler Urethral Sphincter Dysfunction Syndrome
Dysuria, Urinary incontinence, Abnormality of the urethra, Polycystic ovaries, Urinary retention,... ORPHA:2795
Hamel Cerebro-Palato-Cardiac Syndrome
Atrial septal defect ORPHA:93946
Waardenburg Syndrome Type 3
Atrial septal defect, Atelectasis ORPHA:896
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Atrial septal defect, Vesicoureteral reflux, Peripheral pulmonary artery stenosis OMIM:614749
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Ventricular septal defect, Bicuspid aortic valve, Supernumerary nipple, Cryptorchidism, Increased... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Ventricular septal defect, Bicuspid aortic valve, Supernumerary nipple, Cryptorchidism, Increased... ORPHA:352665
Carney Complex
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ovarian serous cystadenoma... ORPHA:1359
Cardiofaciocutaneous Syndrome
Abnormal heart valve morphology, Premature birth, Lymphedema, Cryptorchidism, Pulmonic stenosis, ... ORPHA:1340
Bardet-Biedl Syndrome 20
Proteinuria, Bilateral cryptorchidism, Atrial septal defect, Male hypogonadism, Micropenis OMIM:619471
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Recurrent respiratory infections, Branchial fistula, Recurrent urinary trac... ORPHA:261330
Thymic Carcinoma
Neoplasm of the thymus, Abnormal vena cava morphology, Palpebral edema, Edema ORPHA:99868
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Ascending tubular aorta aneurysm, Macroorchidism, Ventricular septal defect OMIM:309520
Kabuki Syndrome 2
Horseshoe kidney, Coarctation of aorta, Pulmonic stenosis, Atrial septal defect, Atrioventricular... OMIM:300867
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Dextrocardia, Cystathioninuria, Patent ductus arteriosus, Methylmalonic aciduria, Atrial septal d... OMIM:277380
Hereditary Elliptocytosis
Cholelithiasis, Hydrops fetalis ORPHA:288
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Atrial septal defect, Hypoplastic left heart, Bicuspid aortic valve OMIM:619721
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:617061
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Pulmonary insufficiency, Tricuspid regurgitation, Abnormal heart valve morp... ORPHA:230851
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Uterine prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormality of the endocrine ... ORPHA:438213
Charge Syndrome
Decreased response to growth hormone stimulation test, External genital hypoplasia, Polyhydramnio... OMIM:214800
Wiedemann-Steiner Syndrome
Atrial septal defect, Cryptorchidism, Patent ductus arteriosus OMIM:605130
Microgastria-Limb Reduction Defect Syndrome
Crossed fused renal ectopia, Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplas... ORPHA:2538
7Q11.23 Microduplication Syndrome
Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Cryptorchidism, Patent ductus ... ORPHA:96121
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Atrial septal defect, Spina bifida occulta, Ventricular septal defect, Polyhydramnios OMIM:617360
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal right ventri... ORPHA:500095
Digeorge Syndrome
Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypothyroidism, Par... OMIM:188400
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, V... ORPHA:373
Vascular Ehlers-Danlos Syndrome
Uterine rupture, Internal hemorrhage, Peripheral arteriovenous fistula, Hypospadias, Premature bi... ORPHA:286
Hypothyroidism, Congenital, Nongoitrous, 5
Thyroid agenesis, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration,... OMIM:225250
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Urinary incontinence, Vascular granular osmiophilic material deposition, Lacunar stroke, Varicose... OMIM:125310
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Recurrent urinary tract infections, Bicuspid aortic valve, Vent... ORPHA:353281
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ventricular septal defect, Bicuspid aortic valve, Supernumerary nipple, Abnormal heart morphology... ORPHA:457279
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Atrial septal defect, Recurrent respiratory infections, Hypertrophic cardiomyopathy OMIM:619383
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, ... OMIM:253800
Rubinstein-Taybi Syndrome 1
Premature thelarche, Polyhydramnios, Bilateral cryptorchidism, Papillary cystadenoma of the epidi... OMIM:180849
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... OMIM:224700
Lipodystrophy, Congenital Generalized, Type 2
Decreased serum leptin, Decreased fertility in females, Labial hypertrophy, Hyperinsulinemia, Nep... OMIM:269700
Niemann-Pick Disease Type C
Fetal ascites, Bone-marrow foam cells, Abnormal lung morphology, Hydrops fetalis, Aspiration pneu... ORPHA:646
Degcags Syndrome
Polyhydramnios, Bilateral renal hypoplasia, Atrial septal defect, Patent foramen ovale, Hypospadi... OMIM:619488
Noonan Syndrome 1
Male infertility, Hypospadias, Ventricular septal defect, Lymphedema, Cryptorchidism, Patent duct... OMIM:163950
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Abnormality of the umbilical cord, Intracranial hemorrhag... ORPHA:327
Jacobsen Syndrome
Recurrent respiratory infections, Ventricular septal defect, Hypospadias, Cryptorchidism, Clitora... OMIM:147791
Menkes Disease
Gastrointestinal hemorrhage, Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Bl... ORPHA:565
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Multicystic kidney dysplasia, Hypoplasia of penis, Ventricula... ORPHA:818
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Hypospadias, Aortic root aneurysm, Chordee, Type II diabetes mellitus, Delayed puberty, Atrial se... OMIM:618891
Brachytelephalangic Chondrodysplasia Punctata
Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Patent du... ORPHA:79345
Noonan Syndrome 7
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:613706
Insulin-Like Growth Factor I, Resistance To
Diabetes mellitus, Ventricular septal defect, Increased circulating insulin-like growth factor 1 ... OMIM:270450
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Atrial septal defect, Umbilical hernia, Abnormal mitral valve morphology ORPHA:1292
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Abnormality of the uterus, Vesicoureteral ref... ORPHA:857
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Aminoaciduria, Atrial sept... OMIM:619991
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Atrial septal defect, Patent foramen ovale OMIM:620075
Orofaciodigital Syndrome I
Proteinuria, Pancreatic cysts, Myelomeningocele, Abnormal heart morphology, Ovarian cyst, Hyperte... OMIM:311200
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Portal hypertension, Patent foramen ovale, Cryptorchidism, Patent ductus arteriosus, Renal hypopl... OMIM:620005
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Recurrent respiratory infections, Absent nipple, Aplasia of the thymus, Polyhydra... OMIM:620186
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Anemia, Congenital Dyserythropoietic, Type Ia
Hydrops fetalis OMIM:224120
Microphthalmia, Syndromic 2
Ventricular septal defect, Dextrocardia, Hypospadias, Septate vagina, Cryptorchidism, Patent duct... OMIM:300166
Alagille Syndrome 1
Duplicated collecting system, Ventricular septal defect, Multiple small medullary renal cysts, Ve... OMIM:118450
Cardiospondylocarpofacial Syndrome
Decreased fetal movement, Ventricular septal defect, Muscular ventricular septal defect, Dysplast... OMIM:157800
Lipodystrophy, Congenital Generalized, Type 1
Diabetes mellitus, Decreased serum leptin, Decreased fertility in females, Labial hypertrophy, Hy... OMIM:608594
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Decreased fetal movement, Decreased response to growth hormone stimulation test, Supernumerary ni... OMIM:213980
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Atrial septal defect, Arterial rupture OMIM:619115
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... OMIM:610168
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Hypogonadotropic hypogonadism, Pulmonary artery stenosis, Spina bifida... OMIM:301030
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Aortic regurgitation, Tricuspid regurgitation, Cryptorchidism, Pneumothorax, Mitral valve prolaps... OMIM:601776
15Q14 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:261190
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Varicose veins, Premature rupture of membranes, Pulmonic stenosis, Aortic dissection, Vascular di... OMIM:618343
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Abnormal renal morphology, Hypoplastic labia majora, Atrial septal defect, Vaginal atresia, Fused... OMIM:207410
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Patent ductus arteriosus, Abnormal heart morphology, Hematochezia, M... ORPHA:79076
Williams-Beuren Syndrome
Bicuspid aortic valve, Nephrocalcinosis, Early onset of sexual maturation, Vesicoureteral reflux,... OMIM:194050
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Lymphedema, Atrial septal defect, H... ORPHA:99413
Mosaic Monosomy X
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Lymphedema, Atrial septal defect, H... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Lymphedema, Atrial septal defect, H... ORPHA:99226
Turner Syndrome
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Lymphedema, Atrial septal defect, H... ORPHA:881
Poland Syndrome
Encephalocele, Duplicated collecting system, Diabetes mellitus, Hypospadias, Dextrocardia, Renal ... ORPHA:2911
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension, Elevat... OMIM:263400
Floating-Harbor Syndrome
Hypospadias, Cryptorchidism, Glandular hypospadias, Varicocele, Coarctation of aorta, Nephrocalci... OMIM:136140
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Polyhydramnios, Vesicoureteral reflux, Atrial septal defect, Patent forame... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Polyhydramnios, Vesicoureteral reflux, Atrial septal defect, Patent forame... ORPHA:353277
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Duplicated collecting system, Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Cr... OMIM:607721
Genitourinary And/Or Brain Malformation Syndrome
Clitoral hypertrophy, Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgen... OMIM:618820
Hepatoerythropoietic Porphyria
Nonimmune hydrops fetalis, Edema, Red urine, Red-brown urine, Abnormality of the amniotic fluid, ... ORPHA:95159
Lethal Kniest-Like Dysplasia
Atrial septal defect, Breech presentation, Polyhydramnios, Edema ORPHA:2347
Ctcf-Related Neurodevelopmental Disorder
Phimosis, Cryptorchidism, Patent ductus arteriosus, Coarctation of aorta, Hypoplastic labia major... ORPHA:363611
Alazami Syndrome
Atrial septal defect ORPHA:319671
Hamamy Syndrome
Hypoparathyroidism, Prolonged QRS complex, Complete atrioventricular canal defect, Cryptorchidism... OMIM:611174
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Townes-Brocks Syndrome 1
Bifid scrotum, Multicystic kidney dysplasia, Renal insufficiency, Ventricular septal defect, Hypo... OMIM:107480
Marshall-Smith Syndrome
Ventricular septal defect, Bilateral cryptorchidism, Cryptorchidism, Patent ductus arteriosus, Re... OMIM:602535
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... OMIM:300967
Codas Syndrome
Ventricular septal defect, Polyhydramnios, Cryptorchidism, Rectovaginal fistula, Atrial septal de... OMIM:600373
Alzahrani-Kuwahara Syndrome
Ventricular septal defect, Hypospadias, Coronary sinus enlargement, Pulmonary artery sling, Persi... OMIM:619268
Osteopathia Striata With Cranial Sclerosis
Multicystic kidney dysplasia, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus... OMIM:300373
Thoracic Outlet Syndrome
Varicose veins, Edema ORPHA:97330
Proximal Spinal Muscular Atrophy
Decreased fetal movement, Recurrent infections due to aspiration, Bradycardia, Atrial septal defe... ORPHA:70
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Anteri... ORPHA:466791
Floating-Harbor Syndrome
Hypospadias, Renal agenesis, Precocious puberty, Cryptorchidism, Dilatation of the renal pelvis, ... ORPHA:2044
Zttk Syndrome
Aortic regurgitation, Absent gallbladder, Unilateral lung agenesis, Ventricular septal defect, Po... OMIM:617140
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Ventricular septal defect, Hypospadias, Polyhydramnios, Cryptorchidism, Dilatation of the ventric... ORPHA:459070
Limb Body Wall Complex
Encephalocele, Ventricular septal defect, Abnormality of the kidney, Spina bifida, Myelomeningoce... ORPHA:2369
16P13.11 Microdeletion Syndrome
Atrial septal defect, Cryptorchidism, Ventricular septal defect ORPHA:261236
Spondyloepimetaphyseal Dysplasia, Krakow Type
Atrial septal defect, Decreased serum insulin-like growth factor 1, Annular pancreas, Patent duct... OMIM:618162
Autosomal Dominant Spastic Paraplegia Type 10
Urinary urgency, Varicose veins, Spastic/hyperactive bladder ORPHA:100991
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agenesis, Cryptorchid... OMIM:308205
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Polyhydramnios, Right ventricular dilatation, At... OMIM:619472
Helsmoortel-Van Der Aa Syndrome
Recurrent respiratory infections, Recurrent urinary tract infections, Decreased response to growt... OMIM:615873
Mandibulofacial Dysostosis-Microcephaly Syndrome
Atrial septal defect ORPHA:79113
Vici Syndrome
Recurrent respiratory infections, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopath... OMIM:242840
Congenital Erythropoietic Porphyria
Nonimmune hydrops fetalis, Edema, Red-brown urine, Porphyrinuria, Increased urinary porphobilinog... ORPHA:79277
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Mitral valve calcification, Aortic valve calcification, Abnorma... ORPHA:2072
Cardiofaciocutaneous Syndrome 1
Premature birth, Polyhydramnios, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyop... OMIM:115150
Diamond-Blackfan Anemia 1
Ventricular septal defect, Tricuspid stenosis, Premature birth, Congestive heart failure, Renal h... OMIM:105650
Bent Bone Dysplasia Syndrome 2
Atrial septal defect, Micropenis, Thickened nuchal skin fold, Shawl scrotum OMIM:620076
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Ventricular septal defect, Urinary incontinence, Hypospadias, Renal agenesis,... OMIM:619522
Spondylodysplastic Ehlers-Danlos Syndrome
Prominent scalp veins, Agenesis of pineal gland, Abnormal heart valve morphology, Lymphedema, Cry... ORPHA:536471
Wolf-Hirschhorn Syndrome
Recurrent respiratory infections, Decreased fetal movement, Abnormal heart valve morphology, Hypo... ORPHA:280
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Ventricular septal defect, Cryptorchidism, Muscular ventricular septal defect, Breech presentatio... OMIM:210710
Genitopatellar Syndrome
Multicystic kidney dysplasia, Small scrotum, Ventricular septal defect, Enlarged labia minora, Po... OMIM:606170
Schinzel-Giedion Midface Retraction Syndrome
Ureteral stenosis, Hypospadias, Hydroureter, Small scrotum, Hypoplastic labia minora, Splenopancr... OMIM:269150
Carpenter Syndrome 2
Tricuspid regurgitation, Dextrocardia, Supernumerary nipple, Situs inversus totalis, Bilateral cr... OMIM:614976
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Simpson-Golabi-Behmel Syndrome, Type 1
Polyhydramnios, Abnormal lung lobation, Renal cyst, Atrial septal defect, Hypospadias, Cryptorchi... OMIM:312870
Johanson-Blizzard Syndrome
Atrial septal defect, Micropenis, Hypothyroidism, Hypospadias, Urethrovaginal fistula, Septate va... OMIM:243800
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Ventricular septal defect, Epispadias, Cryptorchidism, Patent ductus art... OMIM:615948
Arboleda-Tham Syndrome
Recurrent respiratory infections, Recurrent urinary tract infections, Ventricular septal defect, ... OMIM:616268
Omodysplasia 1
Ventricular septal defect, Cryptorchidism, Pulmonary artery stenosis, Atrial septal defect, Umbil... OMIM:258315
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... OMIM:201750
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus art... OMIM:609192
Larsen Syndrome
Ventricular septal defect, Cryptorchidism, Atrial septal defect, Spina bifida occulta, Aortic ane... OMIM:150250
Myhre Syndrome
Ventricular septal defect, Pericardial effusion, Cryptorchidism, Patent ductus arteriosus, Coarct... OMIM:139210
Axenfeld-Rieger Syndrome, Type 3
Atrial septal defect, Patent ductus arteriosus OMIM:602482
Diamond-Blackfan Anemia 4
Atrial septal defect OMIM:612527
Spondyloocular Syndrome
Unilateral cryptorchidism, Lymphedema, Mitral valve prolapse, Atrial septal defect, Dysplastic ao... OMIM:605822
Kaufman Oculocerebrofacial Syndrome
Ventricular septal defect, Coarctation of aorta, Hypoplastic labia majora, Atrial septal defect, ... OMIM:244450
Sotos Syndrome
Ureteral duplication, Pedal edema, Vesicoureteral reflux, Atrial septal defect, Hypothyroidism, H... ORPHA:821
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Abnormality of the ureter, Ovarian cyst, Intestinal bleeding, Bladder p... OMIM:175200
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect OMIM:614526
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... OMIM:614527
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Biventricular hypertrophy, Premature rupture of membranes, Ascites, Anasa... OMIM:619573
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Hypospadias, Cryptorchidism, Horseshoe kidney, Clitoral hypoplasia, Total anomalou... OMIM:609945
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Decreased testicular size, Micropenis, Hypoplasia of the ovary, Renal hypoplasia OMIM:619321
Cerebrocostomandibular Syndrome
Ventricular septal defect, Polyhydramnios, Ectopic kidney, Patent ductus arteriosus, Horseshoe ki... OMIM:117650
Loeys-Dietz Syndrome 5
Ventricular septal defect, Aortic root aneurysm, Mitral regurgitation, Ascending aortic dissectio... OMIM:615582
Costello Syndrome
Renal insufficiency, Ventricular septal defect, Premature birth, Polyhydramnios, Pneumothorax, Mi... OMIM:218040
Kabuki Syndrome 1
Crossed fused renal ectopia, Ventricular septal defect, Premature thelarche, Cryptorchidism, Micr... OMIM:147920
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Hypospadias, Ecto... OMIM:607872
Coffin-Siris Syndrome 1
Recurrent respiratory infections, Hydroureter, Ventricular septal defect, Hypospadias, Ectopic ki... OMIM:135900
Fetal Alcohol Syndrome
Atrial septal defect ORPHA:1915
Coffin-Siris Syndrome 4
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Pulmonic stenosis, Atrial se... OMIM:614609
Neurocardiofaciodigital Syndrome
Patent ductus arteriosus, Vesicoureteral reflux, Double inlet left ventricle, Atrial septal defec... OMIM:619869
2Q31.1 Microdeletion Syndrome
Atrial septal defect, Cryptorchidism, Abnormality of the hypothalamus-pituitary axis, Ventricular... ORPHA:251014
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Ventricular septal defect OMIM:610536
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Pulmona... OMIM:610655
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma, Thyroid adenoma, Renal cyst OMIM:617100
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... ORPHA:572333
Renpenning Syndrome 1
Ventricular septal defect, Hypospadias, Phimosis, Situs inversus totalis, Renal hypoplasia, Atria... OMIM:309500
Roberts-Sc Phocomelia Syndrome
Ventricular septal defect, Hypospadias, Enlarged labia minora, Polyhydramnios, Cryptorchidism, Pa... OMIM:268300
Liposarcoma
Varicose veins, Abnormality of the kidney ORPHA:69078
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Atrial septal defect, Decreased fetal movement OMIM:614207
Mowat-Wilson Syndrome
Bifid scrotum, Hypospadias, Ventricular septal defect, Supernumerary nipple, Pulmonary artery sli... OMIM:235730
Ramos-Arroyo Syndrome
Atrial septal defect, Patent ductus arteriosus, Xerostomia ORPHA:1051
Microphthalmia With Limb Anomalies
Venous insufficiency, Cryptorchidism, Horseshoe kidney ORPHA:1106
Cornelia De Lange Syndrome
Multicystic kidney dysplasia, Hypoplasia of penis, Ventricular septal defect, Hypospadias, Renal ... ORPHA:199
Congenital Disorder Of Glycosylation, Type Iim
Vesicovaginal fistula, Hypertension, Atrial septal defect, Ureteropelvic junction obstruction, Ol... OMIM:300896
Peters-Plus Syndrome
Ureteral duplication, Hypoplasia of the vagina, Hypospadias, Ventricular septal defect, Bilobate ... OMIM:261540
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Ventricular septal defect, External genital hypoplasia, Premature birth, Polyhydramnios, Cryptorc... ORPHA:96334
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Varicose veins, Venous malformation, Lymphedema OMIM:613089
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Atrial septal defect, Cryptorchidism, Fetal pyelectasis, Dilation of Virchow-Robin spaces OMIM:619512
Clapo Syndrome
Varicose veins, Venous malformation, Lymphedema ORPHA:168984
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Unilateral lung agenesis, Transient ischemic attack, Unilateral renal agenesi... ORPHA:500150
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Renal hypoplasia/aplasia, Abnormal renal morphology, Abnormal heart mo... ORPHA:363700
Hypermobile Ehlers-Danlos Syndrome
Abnormality of the menstrual cycle, Venous insufficiency, Cystocele, Decreased fertility, Ascendi... ORPHA:285
Otopalatodigital Syndrome, Type Ii
Hypospadias, Spina bifida, Cryptorchidism, Stillbirth, Atrial septal defect, Umbilical hernia, Di... OMIM:304120
Frank-Ter Haar Syndrome
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Atrial septal de... OMIM:249420
Turnpenny-Fry Syndrome
Aortic regurgitation, Recurrent respiratory infections, Polyhydramnios, Patent ductus arteriosus,... OMIM:618371
Oculodentodigital Dysplasia
Atrial septal defect, Neurogenic bladder, Arrhythmia OMIM:164200
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Atrial septal defect ORPHA:93947
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Renal dysplasia, 1-minute APGAR score of 1, Abnormal circulating thyroid hormone concentration, C... ORPHA:480880
Chromosome 16P13.3 Duplication Syndrome
Atrial septal defect, Cryptorchidism, Tetralogy of Fallot, Ventricular septal defect OMIM:613458
Occipital Horn Syndrome
Venous insufficiency, Bladder diverticulum, Recurrent urinary tract infections, Vascular dilatation ORPHA:198
Pallister-Killian Syndrome
Small scrotum, Edema of the dorsum of feet, Polyhydramnios, Renal cyst, Premature rupture of memb... OMIM:601803
Varicose Veins
Varicose veins OMIM:192200
Wolf-Hirschhorn Syndrome
Decreased fetal movement, Ventricular septal defect, Hypospadias, Precocious puberty, Cryptorchid... OMIM:194190
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Edema, Lymphedema, Chylothorax, Atrial septal defect, Pleural effusion ORPHA:2526
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus ar... OMIM:612474
Glomuvenous Malformation
Gastrointestinal arteriovenous malformation, Abnormal renal morphology, Arteriovenous malformatio... ORPHA:83454
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Atrial septal defect, Partial anomalous pulmonary venous return, Ventricular septal defect OMIM:301044
Norrie Disease
Diabetes mellitus, Venous insufficiency, Cryptorchidism, Erectile dysfunction, Uterine rupture, D... ORPHA:649
Spondylometaphyseal Dysplasia, Sedaghatian Type
Atrial septal defect, Myocarditis, Arrhythmia OMIM:250220
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061

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 Osr1

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 Osr1.

No publications found that use IMPC mice or data for Osr1.

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MGI Allele Allele Type Produced
Osr1em1(IMPC)Ccpcz Intra-exon deletion Mice

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