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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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
Ventricular septal defect, Atrial septal defect, Hydrops fetalis, Renal insufficiency, Cardiomyop... ORPHA:1909
Meacham Syndrome
Hypoplastic left heart, Enlarged kidney, Ventricular septal defect, Horseshoe kidney, Atrial sept... OMIM:608978
Partial Atrioventricular Septal Defect
Hypoplastic left heart, Tetralogy of Fallot, Bacterial endocarditis, Transient ischemic attack, A... ORPHA:1330
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Cryptorchidism, Fetal akinesia sequence, Micropenis, Hydrops fetalis, Dilated cardiomyopathy, Hyp... OMIM:618815
Klippel-Trénaunay Syndrome
Peripheral arteriovenous fistula, Venous insufficiency, Edema, Atrial septal defect, Hydrops feta... ORPHA:90308
Leopard Syndrome 1
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Micropenis, Pulmonic stenosis, Unilater... OMIM:151100
Heterotaxy, Visceral, 1, X-Linked
Mitral stenosis, Hypoplastic left heart, Enlarged kidney, Ventricular septal defect, Horseshoe ki... OMIM:306955
Heterotaxy, Visceral, 4, Autosomal
Pulmonary artery atresia, Dextrocardia, Right aortic arch, Ventricular septal defect, Total anoma... OMIM:613751
Transaldolase Deficiency
Abnormality of the kidney, Coarctation of aorta, Edema, Atrial septal defect, Hydrops fetalis, Bi... ORPHA:101028
Partial Androgen Insensitivity Syndrome
Perineal hypospadias, Increased serum testosterone level, Abnormal circulating estrogen level, Ap... ORPHA:90797
Right Atrial Isomerism
Situs inversus totalis, Pulmonary artery atresia, Dextrocardia, Pulmonic stenosis, Ventricular se... OMIM:208530
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Ventricular septal defect, Atrial septal defect, Hydrops fetalis, Overriding aorta, Atrial flutte... OMIM:601927
Heterotaxy, Visceral, 7, Autosomal
Situs inversus totalis, Pulmonary artery atresia, Dextrocardia, Hypoplasia of right ventricle, Ri... OMIM:616749
Mitochondrial Complex I Deficiency, Nuclear Type 35
Nonimmune hydrops fetalis, Pulmonary arterial hypertension, Cardiomyopathy, Pulmonary hypoplasia,... OMIM:619003
Diffuse Neonatal Hemangiomatosis
Hydrops fetalis, Polyhydramnios, Renal insufficiency, Renal hypoplasia/aplasia, Patent ductus art... ORPHA:2123
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Dextrocardia, Hypoplastic left heart, Right aortic arch, Total anomalous ... OMIM:614779
Heterotaxy, Visceral, 12, Autosomal
Situs inversus totalis, Hypoplastic left heart, Right aortic arch, Atrial septal defect, Ventricu... OMIM:619702
Congenital Disorder Of Glycosylation, Type Ik
Abnormality of the amniotic fluid, Cardiomyopathy, Nonimmune hydrops fetalis, Hypogonadism OMIM:608540
Mosaic Trisomy 9
Ventricular septal defect, Horseshoe kidney, Atrial septal defect, Multiple renal cysts, Hydronep... ORPHA:99776
Trisomy 13
Hydronephrosis, Cryptorchidism, Abnormal morphology of female internal genitalia, Ventricular sep... ORPHA:3378
Infantile Sialic Acid Storage Disease
Hydrops fetalis, Nephrotic syndrome, Congestive heart failure, Premature birth, Cardiomegaly, Asc... OMIM:269920
Fetal Parvovirus Syndrome
Ascites, Increased nuchal translucency, Hydrops fetalis, Hypertrophic cardiomyopathy ORPHA:295
Bardet-Biedl Syndrome 19
Hydronephrosis, Hypoplastic left heart, Hypogonadism, External genital hypoplasia, Ventricular se... OMIM:615996
Hydrops Fetalis
Nonimmune hydrops fetalis, Abnormality of the kidney, Arrhythmia, Polyhydramnios, Capillary leak,... ORPHA:1041
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Nonimmune hydrops fetalis, Adrenal hypoplasia, Hydrops fetalis, Polyhydramnios, Pulmonary hypoplasia OMIM:613124
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Cryptorchidism, Agonadism, Breast hypoplasia, Primary gonadal insufficiency, Sma... ORPHA:2232
Neuraminidase Deficiency
Proteinuria, Bone-marrow foam cells, Hydrops fetalis, Cardiomyopathy, Facial edema, Cherry red sp... OMIM:256550
Ellis-Van Creveld Syndrome
Cryptorchidism, Atrial septal defect, Epispadias, Common atrium, Hypospadias OMIM:225500
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hydronephrosis, Micropenis, Ventricular septal defect, Hydrops fetalis, Polyhydramnios, Pulmonary... OMIM:616897
Trisomy 1Q
Hydronephrosis, Increased nuchal translucency, Cryptorchidism, Ambiguous genitalia, Ventricular s... ORPHA:261344
Cardiomyopathy, Familial Hypertrophic, 27
Cardiac arrest, Left ventricular diastolic dysfunction, Cardiomyocyte hypertrophy, Concentric hyp... OMIM:618052
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypoplastic left heart, Ventricular septal defect, Atrial septal defect, Hydroureter, Tetralogy o... OMIM:265380
Biliary, Renal, Neurologic, And Skeletal Syndrome
Cardiac arrest, Secundum atrial septal defect, Situs inversus totalis, Right aortic arch, Ventric... OMIM:619534
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Recurrent upper and lower respiratory tract infections, Polyhydramnios... OMIM:620014
Glycogen Storage Disease Iv
Decreased fetal movement, Edema, Hydrops fetalis, Polyhydramnios, Cardiomyopathy, Portal hyperten... OMIM:232500
Cardioacrofacial Dysplasia 2
Atrioventricular canal defect, Left superior vena cava draining to coronary sinus, Common atrium OMIM:619143
Mulibrey Nanism
Hydrops fetalis, Recurrent lower respiratory tract infections, Congestive heart failure, Pericard... OMIM:253250
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Pulmonic stenosis, Hydrops fetalis, Chylopericardium, Tricuspid ... ORPHA:2414
Cardiac Valvular Dysplasia 1
Double inlet left ventricle, Ventricular septal defect, Atrial septal defect, Hydroureter, Tricus... OMIM:212093
Megabladder, Congenital
Multiple glomerular cysts, Left ventricular noncompaction cardiomyopathy, Stage 5 chronic kidney ... OMIM:618719
Sialidosis Type 2
Hydrops fetalis, Umbilical hernia, Nephropathy, Pedal edema, Ascites ORPHA:87876
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Pulmonary arterial hypertension, Hyperaldosteronism, Abnormal circulating re... ORPHA:369929
Lymphatic Malformation 1
Nonimmune hydrops fetalis, Hyperkeratosis over edematous areas, Predominantly lower limb lymphede... OMIM:153100
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital pulmonary airway malformation, Hypoplasia of the bladder, Ventricular septal defect, P... OMIM:611812
Cardiomyopathy, Familial Hypertrophic, 4
Cardiac arrest, Stroke, Reduced left ventricular ejection fraction, Ventricular hypertrophy, Tran... OMIM:115197
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:614324
Monosomy 13Q34
Hematochezia, Pulmonic stenosis, Fetal pyelectasis, Epistaxis, Common atrium ORPHA:96168
Congenital Gerbode Defect
Elevated right atrial pressure, Ventricular septal defect, Bacterial endocarditis, Perimembranous... ORPHA:99095
Nuchal Bleb, Familial
Stillbirth, Fetal cystic hygroma, Hydrops fetalis OMIM:257350
Prune Belly Syndrome
Recurrent urinary tract infections, Recurrent respiratory infections, Decreased testicular size, ... ORPHA:2970
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Nonimmune hydrops fetalis, Pulmonary arterial hypertension, Ventricular septal defect, Hypertensi... OMIM:617021
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Maternal diabetes, Reduced left ventricular ejection fraction, Hydrops fetalis, Arr... ORPHA:45452
Cardiomyopathy, Familial Restrictive, 6
Pulmonic stenosis, Hydrops fetalis, Tricuspid regurgitation, Pulmonary insufficiency, Restrictive... OMIM:619433
Arterial Calcification, Generalized, Of Infancy, 2
Coronary artery calcification, Mitral regurgitation, Nephrocalcinosis, Reduced left ventricular e... OMIM:614473
Lymphatic Malformation 13
Nonimmune hydrops fetalis, Pulmonary arterial hypertension, Mitral regurgitation, Atrial septal d... OMIM:620244
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hydronephrosis, Nonimmune hydrops fetalis, Cryptorchidism, Pleural effusion, Ventricular septal d... OMIM:235510
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hydrops fetalis, Polyhydramnios, Fetal ascites, Fetal pleural effusion, Fetal pericardial effusion OMIM:619462
Familial Isolated Restrictive Cardiomyopathy
Interstitial cardiac fibrosis, Stroke, Recurrent respiratory infections, Mitral regurgitation, Le... ORPHA:75249
Achondrogenesis, Type Ib
Breech presentation, Edema, Hydrops fetalis, Umbilical hernia, Polyhydramnios, Stillbirth OMIM:600972
Boomerang Dysplasia
Aplasia/Hypoplasia of the lungs, Cryptorchidism, Hydrops fetalis, Polyhydramnios, Decreased respo... ORPHA:1263
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Hydrops fetalis, Ventricular septal defect, Polyhydramnios, Abnormal tricuspid valve morphology, ... ORPHA:3405
Li-Campeau Syndrome
Cryptorchidism, Micropenis, Atrial septal defect, Ventricular septal defect, Patent foramen ovale... OMIM:619189
Distal 7Q11.23 Microdeletion Syndrome
Patent ductus arteriosus, Atrial septal defect ORPHA:254351
Scimitar Syndrome
Hypoplastic left heart, Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Lef... ORPHA:185
Mesoaxial Hexadactyly And Cardiac Malformation
Pulmonic stenosis, External genital hypoplasia, Atrial septal defect, Ventricular septal defect, ... OMIM:249670
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Increased nuchal translucency, Edema, Atrial septal defect, Facial ede... OMIM:617300
Lymphatic Malformation 6
Nonimmune hydrops fetalis, Edema, Atrial septal defect, Polyhydramnios, Periorbital edema, Facial... OMIM:616843
Isolated Right Ventricular Hypoplasia
Systolic heart murmur, Right ventricular failure, Atrial septal defect, Right-to-left shunt, Card... ORPHA:439
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cryptorchidism, Atrial septal defect, Perimembranous ventricular septal defect, Oligohydramnios, ... OMIM:620135
Hydrops Fetalis, Nonimmune
Nonimmune hydrops fetalis, Congestive heart failure, Hydrops fetalis OMIM:236750
Achondrogenesis
Aplasia/Hypoplasia of the lungs, Hydrops fetalis, Polyhydramnios, Umbilical hernia, Thickened nuc... ORPHA:932
Coronary Arterial Fistula
Atrial septal defect, Bacterial endocarditis, Abnormal heart morphology, Angina pectoris, Patent ... ORPHA:2041
Congenitally Uncorrected Transposition Of The Great Arteries
Maternal diabetes, Abnormal pulmonary valve morphology, Ventricular septal defect, Atrial septal ... ORPHA:860
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Polyhydramnios, Aplasia/Hypoplasia of the lungs, Abnormality of the urinary system, Hydrops fetalis ORPHA:2204
Spinal Muscular Atrophy, Type I
Atrial septal defect, Recurrent respiratory infections, Decreased fetal movement, Ventricular sep... OMIM:253300
Chondrodysplasia, Blomstrand Type
Preductal coarctation of the aorta, Hydrops fetalis, Polyhydramnios, Fetal ascites, Stillbirth, P... OMIM:215045
Adams-Oliver Syndrome 4
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Achondrogenesis Type 1B
Aplasia/Hypoplasia of the lungs, Hydrops fetalis, Polyhydramnios, Umbilical hernia, Thickened nuc... ORPHA:93298
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Stillbirth, Pericardial effusion, Pleural effusion, Ge... OMIM:618773
Meacham Syndrome
Situs inversus totalis, Aplasia/Hypoplasia of the lungs, Hypoplastic left heart, Ambiguous genita... ORPHA:3097
Cardiomyopathy, Dilated, 2D
Interstitial cardiac fibrosis, Pulmonary arterial hypertension, Mitral regurgitation, Reduced lef... OMIM:619371
Achondrogenesis Type 1A
Aplasia/Hypoplasia of the lungs, Hydrops fetalis, Polyhydramnios, Umbilical hernia, Thickened nuc... ORPHA:93299
Combined Oxidative Phosphorylation Deficiency 57
Cardiac arrest, Nonimmune hydrops fetalis, Left ventricular noncompaction cardiomyopathy, Diabete... OMIM:620167
Global Developmental Delay With Or Without Impaired Intellectual Development
Ventricular septal defect, Atrial septal defect, Pulmonary sequestration, Patent ductus arteriosu... OMIM:618330
Alg9-Cdg
Enlarged kidney, Ventricular septal defect, Atrial septal defect, Hypoplastic nipples, Abnormal h... ORPHA:79328
Capillary Malformation-Arteriovenous Malformation
Peripheral arteriovenous fistula, Nonimmune hydrops fetalis, High-output congestive heart failure... ORPHA:137667
8p23.1 deletion syndrome
Atrioventricular canal defect, Cryptorchidism, Abnormal heart morphology, Atrial septal defect DECIPHER:39
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Cryptorchidism, Hydrops fetalis, Pulmonary hypoplasia, Abnormal heart morphology, ... ORPHA:1865
14Q24.1Q24.3 Microdeletion Syndrome
Pulmonary artery atresia, Cryptorchidism, Atrial septal defect, Ectopic kidney, Ventricular septa... ORPHA:401935
Ring Chromosome Y Syndrome
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, m... ORPHA:261529
Cirrhotic Cardiomyopathy
Left ventricular diastolic dysfunction, Third heart sound, Global systolic dysfunction, Reduced l... ORPHA:57777
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Abnormal circulating renin, Left ventricular hypertrophy, Hypertension, Intr... ORPHA:251274
Gm1 Gangliosidosis
Recurrent respiratory infections, Aspiration pneumonia, Ventricular septal defect, Hydrops fetali... ORPHA:354
White Forelock With Malformations
Prominent veins on trunk, Atrial septal defect OMIM:277740
Free Sialic Acid Storage Disease
Recurrent respiratory infections, Proteinuria, Hydrops fetalis, Nephrotic syndrome, Ascites ORPHA:834
Tricuspid Atresia
Pulmonary artery atresia, Hypoplasia of right ventricle, Coarctation of aorta, Ventricular septal... ORPHA:1209
Ventricular Septal Defect 1
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Atrioventricular canal defect,... OMIM:614429
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polycystic kidney dysplasia, Micropenis, Atrial septal defect, Hydrops fetalis, Polyhydramnios, P... OMIM:616546
Atrial Septal Defect, Ostium Primum Type
Tricuspid regurgitation, Atrial fibrillation, Pulmonary artery dilatation, Recurrent respiratory ... ORPHA:99106
Congenital Enterovirus Infection
Myocarditis, Decreased fetal movement, Pleural effusion, Hypotension, Hydrops fetalis, Polyhydram... ORPHA:292
Mucopolysaccharidosis, Type Vii
Heparan sulfate excretion in urine, Hydrops fetalis, Umbilical hernia, Cardiomyopathy, Chronic br... OMIM:253220
Atrial Septal Defect, Coronary Sinus Type
Stroke, Pulmonary arterial hypertension, Systolic heart murmur, Unroofed coronary sinus, Syncope,... ORPHA:99104
Ritscher-Schinzel Syndrome 1
Hydronephrosis, Adrenal hypoplasia, Hypoplastic left heart, Pulmonic stenosis, Ventricular septal... OMIM:220210
Microphthalmia, Syndromic 9
Ventricular septal defect, Horseshoe kidney, Atrial septal defect, Tetralogy of Fallot, Right aor... OMIM:601186
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation, Intestinal bleeding OMIM:600195
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Stroke, Cryptorchidism, Ventricular septal defect, Atrial septal defect, ... OMIM:249270
Hb Bart'S Hydrops Fetalis
Hydrops fetalis, Polyhydramnios, Congestive heart failure, Oligohydramnios, Pericarditis ORPHA:163596
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Decreased testicular size, Cryptorchidism, Atrial septal defect, Su... OMIM:610198
Frasier Syndrome
Proteinuria, Glomerulopathy, Gonadoblastoma, Ambiguous genitalia, male, Gonadal dysgenesis with f... ORPHA:347
Pmm2-Cdg
Proteinuria, Elevated circulating growth hormone concentration, Decreased testicular size, Aspira... ORPHA:79318
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Elevated circulating follicle stimulating hormone level, Increased circulating p... ORPHA:90793
Atrial Septal Defect, Ostium Secundum Type
Stroke, Abnormal mitral valve morphology, Tricuspid regurgitation, Transient ischemic attack, Sup... ORPHA:99103
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, Nonimmune hydrops fetalis, Right atrial enlargement, Restrictive cardio... OMIM:619313
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus, Fetal akinesia sequence, Ventricular septal defect, Hydrops fetalis, Pu... OMIM:617022
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Reduced left ventricular ejection fraction, Abnormal jugular vein... ORPHA:1677
Congenital Myopathy 11
Breech presentation, Decreased fetal movement, Atrial septal defect, Polyhydramnios, Patent foram... OMIM:619967
Limb-Mammary Syndrome
Hypoplastic nipples, Breast aplasia, Aplasia of the ovary, Absent nipple, Bilateral breast hypopl... ORPHA:69085
Mucopolysaccharidosis Type 7
Mucopolysacchariduria, Recurrent respiratory infections, Hydrops fetalis, Arteriovenous malformat... ORPHA:584
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Hydrops fetalis, Palpebral edema, Hydrocele testis, Pleural effusion, Plantar telangiectasia, Pre... ORPHA:69735
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Tetralogy of Fallot, Atrial septal defect, Abnormal heart morphology, ... OMIM:614954
Cardiomyopathy, Familial Hypertrophic, 26
Prolonged QTc interval, Stroke, Left anterior fascicular block, Mitral regurgitation, Left atrial... OMIM:617047
Mitochondrial Trifunctional Protein Deficiency 1
Abnormality of the amniotic fluid, Hydrops fetalis, Arrhythmia, Myoglobinuria, Congestive heart f... OMIM:609015
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Premature adrenarche, Abnormal labia majora ... ORPHA:90791
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypertension, Renal salt wasting, Adrenogenital syndrome, Hypospadias OMIM:201910
Bardet-Biedl Syndrome 2
Hypogonadism, External genital hypoplasia, Atrial septal defect, Diabetes mellitus, Bicuspid aort... OMIM:615981
Gaucher Disease Type 3
Delayed puberty, Proteinuria, Pulmonary arterial hypertension, Recurrent respiratory infections, ... ORPHA:77261
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Hydronephrosis, Increased nuchal translucency, Cryptorchidism, Coarctation of aorta, Ventricular ... OMIM:618494
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricu... ORPHA:1354
Gm1-Gangliosidosis, Type I
Hydrops fetalis, Abnormal heart valve morphology, Cherry red spot of the macula, Congestive heart... OMIM:230500
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Renal salt wasting, Adrenogenital syndrome, Hypospadias OMIM:201710
Long Qt Syndrome 3
Prolonged QTc interval, Nonimmune hydrops fetalis, Ventricular tachycardia, Hydrops fetalis, Tors... OMIM:603830
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Facial telangiectasia in butterfly midface distribution, Nonimmune hydrops fetalis, Telangiectasi... OMIM:137940
Mgat2-Cdg
Ventricular septal defect, Reflex asystolic syncope, Arrhythmia, Hypoplastic nipples, Hydrops fet... ORPHA:79329
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Reduced left ventricular ejection fraction, Aortic aneurysm, Right atrial enlargemen... OMIM:612422
Congenital Disorder Of Glycosylation, Type Ia
Abnormality of the amniotic fluid, Proteinuria, Nonimmune hydrops fetalis, Edema, Renal cyst, Car... OMIM:212065
Atrial Septal Defect 2
Dextrocardia, Mitral regurgitation, Pulmonic stenosis, Atrial septal defect, Ventricular septal d... OMIM:607941
Recombinant Chromosome 8 Syndrome
Hydronephrosis, Cryptorchidism, Pulmonic stenosis, Ventricular septal defect, Atrial septal defec... OMIM:179613
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, Decreased fetal movement, Hydrops fetalis, Polyhydramnios, Pulm... OMIM:255320
Fetal Gaucher Disease
Fetal akinesia sequence, Decreased fetal movement, Hydrops fetalis, Intracranial hemorrhage, Neon... ORPHA:85212
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polycystic kidney dysplasia, Micropenis, Ambiguous genitalia, Ventricular septal defect, Atrial s... OMIM:263520
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Pulmonary edema, Edema OMIM:178400
Truncus Arteriosus
Right aortic arch, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Abnormal... ORPHA:3384
Megalencephaly
Long penis, Macroorchidism, Atrial septal defect ORPHA:2477
Noonan Syndrome 8
Cryptorchidism, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect, Atrial septal... OMIM:615355
Hadziselimovic Syndrome
Pulmonary artery atresia, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, V... OMIM:612946
Obsolete: Primary Pigmented Nodular Adrenocortical Disease
Adrenal hyperplasia, Diabetes mellitus, Increased circulating cortisol level, Hypertension, Decre... ORPHA:189439
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Atrial septal defect, Tricuspid regurgitation, Bilateral cryptorchidis... OMIM:618652
Congenital Tricuspid Valve Dysplasia
Systolic heart murmur, Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse, Tri... ORPHA:555874
Generalized Arterial Calcification Of Infancy
Stroke, Pancreatic calcification, Nephrocalcinosis, Ventricular hypertrophy, Transient ischemic a... ORPHA:51608
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Micropenis, Ambiguous genitalia, Ventricular septal defect, Atrial septal defect, Unilateral rena... OMIM:618142
Xk Aprosencephaly Syndrome
Atrial septal defect, Polyhydramnios, Abnormal external genitalia, Ventricular septal defect ORPHA:3469
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Micropenis, Ventricular septal defect, Atrial septal defect, Hypertension, Patent ductus arterios... OMIM:613870
Timothy Syndrome
Bronchitis, Pulmonary arterial hypertension, Ventricular tachycardia, Ventricular septal defect, ... OMIM:601005
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Enlarged kidney, Ambiguous genitalia, Ventricular septal defect, Atrial s... OMIM:618280
Oligomeganephronia
Secundum atrial septal defect, Proteinuria, Renal tubular atrophy, Dehydration, Stage 5 chronic k... ORPHA:2260
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Left atrial enlargement, Biv... OMIM:619424
Cardiac Diverticulum
Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Abnormal heart morphology, ... ORPHA:1686
Combined Oxidative Phosphorylation Deficiency 42
Nonimmune hydrops fetalis, Cardiomyopathy, Neonatal death, Premature birth, Decreased circulating... OMIM:618839
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Nonimmune hydrops fetalis, Fetal akinesia sequence, Polyhydramnios, Portal hypertension, Congesti... ORPHA:367
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, ... OMIM:614841
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Aplasia/Hypoplasia of the lungs, Abnormal lung lobation, Coarctation of aorta, Atrial septal defe... ORPHA:1120
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, Elevated circulating follicle stimulating hormone level, Ab... ORPHA:251510
Hydrolethalus Syndrome 1
Hydronephrosis, Ventricular septal defect, Arrhinencephaly, Polyhydramnios, Complete atrioventric... OMIM:236680
Bdv Syndrome
Delayed puberty, Cryptorchidism, Reduced TSH response to thyrotrophin-releasing hormone stimulati... OMIM:619326
Combined Oxidative Phosphorylation Deficiency 40
Nonimmune hydrops fetalis, Premature birth, Neonatal death, Hypertrophic cardiomyopathy, Decrease... OMIM:618835
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Cryptorchidism, Ventricular septal defect, Diabetes mellitus, Umbilical hernia, Abnormal heart mo... ORPHA:500159
Congenital Heart Defects, Multiple Types, 5
Tetralogy of Fallot, Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Doub... OMIM:617912
Lymphedema-Distichiasis Syndrome
Nonimmune hydrops fetalis, Tetralogy of Fallot, Ventricular septal defect, Arrhythmia, Predominan... OMIM:153400
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Abnormality of the kidney, Ambiguous genitalia, Horseshoe kidney, Abnormal inter... ORPHA:1772
Structural Heart Defects And Renal Anomalies Syndrome
Systolic heart murmur, Right aortic arch, Ventricular septal defect, Atrial septal defect, Renal ... OMIM:617478
Ulnar Agenesis And Endocardial Fibroelastosis
Endocardial fibroelastosis, Hydrops fetalis, Neonatal death OMIM:276822
Emanuel Syndrome
Recurrent urinary tract infections, Recurrent respiratory infections, Cryptorchidism, Decreased f... OMIM:609029
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polycystic kidney dysplasia, Hydrops fetalis, Renal cyst, Pulmonary hypoplasia, Ascites, Renal hy... OMIM:614091
Alagille Syndrome 2
Proteinuria, Pulmonic stenosis, Renal cyst, Atrial septal defect, Tetralogy of Fallot, Renal insu... OMIM:610205
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Cryptorchidism, Coarctation of aorta, Atrial septal defect, Meth... OMIM:614857
Abruzzo-Erickson Syndrome
Cryptorchidism, Atrial septal defect, Coronal hypospadias, Abnormal localization of kidney, Hypos... ORPHA:921
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Recurrent respiratory infections, Pulmonary artery atresia, Cryptorchidism, Ventricular septal de... OMIM:618316
Absence Of The Pulmonary Artery
Reduced left ventricular ejection fraction, Atrial septal defect, Tetralogy of Fallot, Right aort... ORPHA:980
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Hypertension, Intracranial hemorrhage, Secretory... ORPHA:403
Combined Oxidative Phosphorylation Defect Type 27
Nonimmune hydrops fetalis ORPHA:477774
Gm1 Gangliosidosis Type 1
Aspiration pneumonia, Abnormal placenta morphology, Hydrops fetalis, Cardiomyopathy, Increased ur... ORPHA:79255
Fraser Syndrome 3
Nonimmune hydrops fetalis, Hypoplasia of the bladder, Hypoplasia of penis, Stillbirth, Sonographi... OMIM:617667
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Stroke, Pulmonary arterial hypertension, Dehydration, Glomerulopathy, Hemolytic-uremic syndrome, ... ORPHA:79282
Congenitally Corrected Transposition Of The Great Arteries
Situs inversus totalis, Atrial situs ambiguous, Wolff-Parkinson-White syndrome, Ventricular septa... ORPHA:216694
Fetal Trimethadione Syndrome
Ambiguous genitalia, Ventricular septal defect, Tetralogy of Fallot, Atrial septal defect, Transp... ORPHA:1913
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Cryptorchidism, Gonadoblastoma, Renal insufficiency, Nephropathy, Streak ovary, Abnormality of th... OMIM:194072
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Recurrent urinary tract infections, Abnormality of the kidney, Micropenis, Atrial septal defect, ... ORPHA:363444
Seizures-Scoliosis-Macrocephaly Syndrome
Polyhydramnios, Abnormality of the kidney, Cryptorchidism, Atrial septal defect ORPHA:466926
46,Xx Sex Reversal 5
Secundum atrial septal defect, Increased serum testosterone level, Hypoplastic left heart, Ambigu... OMIM:618901
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Nephrocalcinosis, Atrial septal defect, Polyhydramnios, Diabetes insipidus, Congestive heart failure ORPHA:500533
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:1388
Mosaic Trisomy 16
Maternal diabetes, Coarctation of aorta, Ventricular septal defect, Horseshoe kidney, Atrial sept... ORPHA:1708
Autism Spectrum Disorder Due To Auts2 Deficiency
Umbilical hernia, Cryptorchidism, Abnormal heart morphology, Atrial septal defect ORPHA:352490
Campomelia, Cumming Type
Hydrops fetalis, Multiple renal cysts, Lymphedema, Oligohydramnios, Pancreatic cysts, Multicystic... ORPHA:1318
Intellectual Developmental Disorder, Autosomal Dominant 21
Cryptorchidism, Coarctation of aorta, Patent ductus arteriosus, Atrial septal defect OMIM:615502
Craniofaciofrontodigital Syndrome
Stroke, Ventricular septal defect, Atrial septal defect, Persistent fetal circulation, Pulmonary ... ORPHA:363705
Combined Oxidative Phosphorylation Deficiency 41
Nonimmune hydrops fetalis, Cardiomegaly, Decreased circulating cortisol level, Premature birth OMIM:618838
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Stroke, Ventricular septal defect, Atrial septal defect, Diabetes mellitus, Conge... ORPHA:49827
Polysyndactyly With Cardiac Malformation
Ventricular septal defect, Atrial septal defect, Polyhydramnios, Renal cyst, Stillbirth OMIM:263630
Bardet-Biedl Syndrome
Hypoplasia of the ovary, Cryptorchidism, Hypogonadism, Hypertension, Nephrotic syndrome, Hypoplas... ORPHA:110
Yunis-Varon Syndrome
Increased nuchal translucency, Pulmonary arterial hypertension, Cryptorchidism, Micropenis, Tetra... ORPHA:3472
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Increased size of the clitoris, Ambiguous genitalia, Fused labia majora, Elevate... ORPHA:95699
Pearson Syndrome
Proteinuria, Dehydration, Glycosuria, Renal cyst, Diabetes mellitus, Hypoparathyroidism, Renal in... ORPHA:699
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Hypoplastic left heart, Right aor... ORPHA:99050
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Abnormal renal morphology, Cryptorchidism, Atrial septal defect, Ventricular septal defect, Umbil... ORPHA:329224
Beta-Mercaptolactate Cysteine Disulfiduria
Umbilical hernia, Abnormality of the ureter, Atrial septal defect ORPHA:1035
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Abnormal circulating renin, Hypertension, Intracranial hemorrhage, Glucocort... ORPHA:404
Multisystemic Smooth Muscle Dysfunction Syndrome
Pulmonary artery dilatation, Pulmonary arterial hypertension, Cryptorchidism, Atrial septal defec... OMIM:613834
Thanatophoric Dysplasia Type 2
Encephalocele, Increased nuchal translucency, Aplasia/Hypoplasia of the lungs, Abnormality of the... ORPHA:93274
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Varicose veins, Sinus bradycardia, Patent ductus arteriosus, Pedal ede... OMIM:126320
3C Syndrome
Hydronephrosis, Adrenal hypoplasia, Recurrent respiratory infections, Hypoplastic left heart, Pul... ORPHA:7
Adams-Oliver Syndrome 5
Pulmonary arterial hypertension, Pulmonic stenosis, Umbilical hernia, Right atrial enlargement, R... OMIM:616028
Pseudotrisomy 13 Syndrome
Encephalocele, Adrenal hypoplasia, Cryptorchidism, Tricuspid atresia, Micropenis, Dextrocardia, V... OMIM:264480
Ventricular Septal Defect 3
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect OMIM:614432
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis, Hydrocele testis OMIM:616738
Immunodeficiency 110 With Lymphoproliferation
Atrial septal defect OMIM:614868
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Breech presentation, Micropenis, Atrial septal defect, Hydrops fetalis, Polyhydramnios, Duplicate... OMIM:300868
Congenital Alveolar Capillary Dysplasia
Hydronephrosis, Pulmonary arterial hypertension, Hypoplastic left heart, Ventricular septal defec... ORPHA:210122
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Perineal hypospadias, Adrenal hyperplasia, Impaired cortisol response to corticotropin releasing ... OMIM:201810
Anemia, Congenital Dyserythropoietic, Type Iv
Micropenis, Hydrops fetalis, Hypothyroidism, Hypertrophic cardiomyopathy, Hypospadias OMIM:613673
Von Willebrand Disease
Venous insufficiency, Abnormal mitral valve morphology ORPHA:903
8Q12 Microduplication Syndrome
Atrial septal defect, Vesicoureteral reflux, Ventricular septal defect ORPHA:228399
Cranioectodermal Dysplasia 2
Renal cyst, Atrial septal defect, Left ventricular hypertrophy, Bile duct proliferation, Renal in... OMIM:613610
Atrial Septal Defect 4
Coarctation of aorta, Patent foramen ovale, Atrial septal defect OMIM:611363
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Global glomerulosclerosis, Hyperaldosteronism, Hyperchloriduria, Hypernatriuria, Decreased glomer... OMIM:602522
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Atrial septal defect, Renal cyst, Bile duct proliferati... OMIM:611134
Even-Plus Syndrome
Recurrent urinary tract infections, Atrial septal defect, Patent foramen ovale, Oligohydramnios, ... OMIM:616854
Hennekam Syndrome
Recurrent respiratory infections, Arteriovenous malformation, Horseshoe kidney, Ectopic kidney, H... ORPHA:2136
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Cryptorchidism, Ventricular septal defect, Horseshoe kidney, Renal cyst, Abnormal vena cava morph... ORPHA:166035
Fibrochondrogenesis 1
Stillbirth, Patent foramen ovale, Hydrops fetalis OMIM:228520
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Nephrocalcinosis, Atrial septal defect, Polyhydramnios, Diabetes insipidus, Premature birth OMIM:611087
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Pulmonary arterial hypertension, Cryptorchidism, Micropenis, Ventricular septal defect, Supernume... ORPHA:2519
Sifrim-Hitz-Weiss Syndrome
Cryptorchidism, Coarctation of aorta, Micropenis, Ambiguous genitalia, Ventricular septal defect,... OMIM:617159
Gaucher Disease, Perinatal Lethal
Nonimmune hydrops fetalis, Decreased fetal movement, Polyhydramnios, Pulmonary hypoplasia, Neonat... OMIM:608013
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Atrial septal defect OMIM:617408
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Polycystic ovaries, Precocious puberty, Dilated cardiomyopathy, Hypergonadotropic hypogonadism ORPHA:2229
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Abnormality of the anterior pituitary, Atrial septal defect, Ventricular septal defect, Pulmonary... ORPHA:75389
Mycophenolate Mofetil Embryopathy
Ectopic kidney, Coarctation of aorta, Hydrops fetalis, Ventricular septal defect ORPHA:268249
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cryptorchidism, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Overriding aorta, D... ORPHA:3304
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Decreased testicular size, Hyperinsulinemia, Hypergonadotropic hypogonad... ORPHA:66628
Distal Triplication 15Q
Polycystic kidney dysplasia, Hydronephrosis, Abnormality of the kidney, Dilatation of the renal p... ORPHA:314588
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent urinary tract infections, Hydronephrosis, Pulmonary arterial hypertension, Cryptorchidi... OMIM:612541
Cardiomyopathy, Familial Hypertrophic, 11
Cardiac arrest, Left anterior fascicular block, Ventricular tachycardia, Atrial septal defect, Le... OMIM:612098
Alg8-Cdg
Edema, Hydrops fetalis, Oligohydramnios, Premature birth, Ascites ORPHA:79325
Pentalogy Of Cantrell
Encephalocele, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Pulmonary hy... ORPHA:1335
Meckel Syndrome, Type 7
Situs inversus totalis, Multiple glomerular cysts, Stage 5 chronic kidney disease, Atrial septal ... OMIM:267010
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Renal tubular atrophy, Dehydration, Nephrocalcinosis, Ventricular septal defect, Atrial septal de... OMIM:208085
Alagille Syndrome
Delayed puberty, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Abnormality of ... ORPHA:52
Tatton-Brown-Rahman Syndrome
Mitral regurgitation, Ventricular septal defect, Atrial septal defect, Umbilical hernia, Tricuspi... OMIM:615879
Emanuel Syndrome
Recurrent respiratory infections, Cryptorchidism, Breech presentation, Micropenis, Pulmonic steno... ORPHA:96170
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Mitral regurgitation, Aortic regurgitation, Tricuspid regurgitation, Pulmonary insufficiency, Rig... ORPHA:555877
Alpha-Thalassemia
Cholelithiasis, Hydrops fetalis ORPHA:846
Renal-Hepatic-Pancreatic Dysplasia 1
Situs inversus totalis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kid... OMIM:208540
Hemochromatosis, Neonatal
Hepatocellular necrosis, Nonimmune hydrops fetalis, Oligohydramnios OMIM:231100
Suleiman-El-Hattab Syndrome
Hydronephrosis, Recurrent respiratory infections, Cryptorchidism, Atrial septal defect, Ventricul... OMIM:618950
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Decreased testicular size, Hyperinsulinemia, Hypergonadotropic hypogonad... ORPHA:179494
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Cryptorchidism, Micropenis, Decreased serum estradiol, Hypothalamic gona... OMIM:618841
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum testosterone concentration, Gonadal dysgenesis with female appearance, male, Gona... ORPHA:168563
Fanconi Anemia, Complementation Group F
Cryptorchidism, Vesicoureteral reflux, Microphallus, Atrial septal defect, Polyhydramnios, Decrea... OMIM:603467
Ebstein Malformation Of The Tricuspid Valve
Right bundle branch block, Abnormal endocardium morphology, Atrial septal defect, Arrhythmia, Imp... ORPHA:1880
Milroy Disease
Varicose veins, Lymphedema, Abnormal venous morphology, Hydrocele testis, Predominantly lower lim... ORPHA:79452
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Ambiguous genitalia, Hypertension, Adrenogenital syndrome, Male pseudohermap... OMIM:202110
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Dextrocardia, Enlarged kidney, Atrioventricular canal defect, Polyhydramnios, Pul... OMIM:314390
Tyshchenko Syndrome
Cryptorchidism, Pulmonic stenosis, Atrial septal defect, Supernumerary nipple, Ventricular septal... OMIM:615102
Gaucher Disease
Delayed puberty, Proteinuria, Pulmonary arterial hypertension, Hydrops fetalis, Abnormal heart va... ORPHA:355
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Ventricular septal defect, Polycystic ovaries, Abnormality of the ureter, Umbilical hernia, Renal... ORPHA:1770
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, ... ORPHA:432
S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Hydrops fetalis ORPHA:88618
16P13.11 Microduplication Syndrome
Coarctation of aorta, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Trans... ORPHA:261243
Congenital Heart Defects, Multiple Types, 6
Secundum atrial septal defect, Pulmonary artery atresia, Coarctation of aorta, Pulmonic stenosis,... OMIM:613854
Multiple Pterygium Syndrome, Escobar Variant
Absence of labia majora, Cryptorchidism, Decreased fetal movement, Hydrops fetalis, Hypoplastic n... OMIM:265000
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Congenitally corrected transposition of the great arteries, Right aortic ... OMIM:618300
Autoimmune Polyendocrinopathy Type 1
Adrenal hyperplasia, Abnormal cerebral vascular morphology, Hypoparathyroidism, Decreased circula... ORPHA:3453
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Urinary incontinence, Atrial septal defect OMIM:620094
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Hydronephrosis, Nonimmune hydrops fetalis, Vesicoureteral reflux OMIM:618265
Formiminoglutamic Aciduria
Atrial septal defect, Abnormal concentration of acylcarnitine in the urine ORPHA:51208
Brain-Lung-Thyroid Syndrome
Recurrent respiratory infections, Pulmonary arterial hypertension, Thyroid dysgenesis, Abnormalit... ORPHA:209905
Thymic Neuroendocrine Tumor
Pituitary prolactin cell adenoma, Increased circulating ACTH level, Increased circulating prolact... ORPHA:97289
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Hypoplastic left heart, Ventricular septal defect, Atrial septal ... ORPHA:392
Transketolase Deficiency
Ventricular septal defect, Atrial septal defect, Renal cyst, Abnormal heart morphology, Increased... ORPHA:488618
Pericardial And Diaphragmatic Defect
Tetralogy of Fallot, Atrial septal defect, Palpitations, Pulmonary hypoplasia, Pulmonary sequestr... ORPHA:2847
X-Linked Intellectual Disability, Nascimento Type
Recurrent respiratory infections, Pulmonary arterial hypertension, Cryptorchidism, Micropenis, Ve... ORPHA:163956
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Pulmonary arterial hypertension, Micropenis, Pulmonic stenosis, Ventricula... OMIM:602782
Peroxisome Biogenesis Disorder 12A (Zellweger)
Decreased fetal movement, Atrial septal defect, Renal tubular dysfunction, Abnormality of the mal... OMIM:614886
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Decreased testicular size, Increased serum t... OMIM:202010
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618974
Seckel Syndrome 9
Recurrent urinary tract infections, Recurrent respiratory infections, Decreased fetal movement, A... OMIM:616777
Parkes Weber Syndrome
Subarachnoid hemorrhage, Peripheral arteriovenous fistula, High-output congestive heart failure, ... ORPHA:90307
Mckusick-Kaufman Syndrome
Hydronephrosis, Cryptorchidism, Hypoplastic left heart, Hydrometrocolpos, Ventricular septal defe... ORPHA:2473
Farber Disease
CNS foam cells, Joint swelling, Atelectasis, Hydrops fetalis, Cherry red spot of the macula, Recu... ORPHA:333
Thanatophoric Dysplasia
Increased nuchal translucency, Abnormality of the kidney, Atrial septal defect, Polyhydramnios, P... ORPHA:2655
Tatton-Brown-Rahman Syndrome
Cryptorchidism, Mitral regurgitation, Aortic root aneurysm, Atrial septal defect, Umbilical herni... ORPHA:404443
Faciocardiomelic Syndrome
Common atrium OMIM:612731
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Ambiguous genitalia, Congenital adrenal hyperplasia OMIM:613571
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Cryptorchidism, Atrial septal defect, Small scrotum, Heart murmur, Multiple bladder ... ORPHA:2728
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hydronephrosis, Hypoplasia of the bladder, Pelvic kidney, Atrial septal defect, Hydroureter, Clit... OMIM:300707
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Increased urinary potassium, Palpitations, Hypertension, Glucocortocoid-inse... ORPHA:231580
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Nonimmune hydrops fetalis, Abnormal sweat gland morphology, Palpebral edema, Hydrocele testis, Pr... OMIM:607823
Lymphangiectasia, Pulmonary, Congenital
Nonimmune hydrops fetalis, Recurrent respiratory infections, Chylous ascites, Edema, Polyhydramni... OMIM:265300
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Hyperaldosteronism, Hypertension, Abnormality of the urinary system, Adrenog... OMIM:103900
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hyperaldosteronism, Hypertension, Hypercalciuria, Polyuria, Decreased circul... OMIM:613677
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Interrupted aortic arch, Pa... ORPHA:2255
Chromosome 5Q12 Deletion Syndrome
Increased nuchal translucency, Hypotension, Atrial septal defect, Ventricular septal defect, Pate... OMIM:615668
Noonan Syndrome 4
Hydronephrosis, Cryptorchidism, Pulmonic stenosis, Ventricular septal defect, Atrial septal defec... OMIM:610733
Chromosome 18Q Deletion Syndrome
Recurrent respiratory infections, Cryptorchidism, Micropenis, Dysplastic pulmonary valve, Ventric... OMIM:601808
Phocomelia, Schinzel Type
Cryptorchidism, Hydrops fetalis, Meningocele, Hypoplasia of penis, Aplasia of the uterus ORPHA:2879
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Aspiration pneumonia, Mitral regurgitation, Left ventricular systolic dysfunction, Left ventricul... OMIM:619167
Greenberg Dysplasia
Nonimmune hydrops fetalis, Increased nuchal translucency, Hydrops fetalis, Pancreatic islet-cell ... OMIM:215140
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Aortic aneurysm, Umbilical hernia, Arterial dissection, Recurrent pneumonia, Vascular dilatation,... ORPHA:1900
Aorta Coarctation
Stroke, Pulmonary arterial hypertension, Hypoplastic left heart, Coarctation of the descending ao... ORPHA:1457
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Pulmonary arterial hypertension, Tetralogy of Fallot, Atrial septal defect OMIM:300887
Carpenter Syndrome 1
Hydronephrosis, Cryptorchidism, Pulmonic stenosis, External genital hypoplasia, Ventricular septa... OMIM:201000
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Hydronephrosis, Increased nuchal translucency, Cryptorchidism, Pleural effusion, Ventricular sept... ORPHA:453499
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Pulmonary arterial hypertension, Pleural effusion, Atelectasis, Recurrent lower respiratory tract... OMIM:620233
Rudiger Syndrome
Ovarian cyst, Micropenis, Ureterovesical stenosis, Bicornuate uterus OMIM:268650
Opitz Gbbb Syndrome
Hydronephrosis, Cryptorchidism, Shawl scrotum, Persistent left superior vena cava, Aortic root an... ORPHA:2745
Noonan Syndrome 10
Increased nuchal translucency, Cryptorchidism, Mitral regurgitation, Coarctation of aorta, Pulmon... OMIM:616564
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Gjc2-Related Late-Onset Primary Lymphedema
Venous insufficiency, Predominantly lower limb lymphedema, Facial edema, Genital edema, Abnormal ... ORPHA:568051
Heart Defects, Congenital, And Other Congenital Anomalies
Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Diabetes mellitus, Perimemb... OMIM:600001
Congenital Rubella Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Abnormality of the pul... ORPHA:290
Schneckenbecken Dysplasia
Stillbirth, Umbilical hernia, Nonimmune hydrops fetalis, Polyhydramnios OMIM:269250
Noonan Syndrome 11
Atrial septal defect, Pulmonic stenosis, Hypertrophic cardiomyopathy OMIM:618499
Platyspondylic Dysplasia, Torrance Type
Polyhydramnios, Pulmonary hypoplasia, Hydrops fetalis ORPHA:85166
Diamond-Blackfan Anemia 6
Mitral regurgitation, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Ventr... OMIM:612561
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Spinal dysraphism, Hypoplastic left heart, Atrial septal defect, Aortic valve stenosis, Vesicoure... OMIM:617660
Buratti-Harel Syndrome
Cryptorchidism, Atrial septal defect, Recurrent pneumonia, Dilation of Virchow-Robin spaces, Hypo... OMIM:619314
Transaldolase Deficiency
Coarctation of aorta, Atrial septal defect, Ventricular septal defect, Clitoral hypertrophy, Tela... OMIM:606003
Eisenmenger Syndrome
Stroke, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Bacterial endocardi... ORPHA:97214
Achondrogenesis, Type Ii
Stillbirth, Polyhydramnios, Edema, Hydrops fetalis OMIM:200610
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Dextrocardia, Cryptorchidism, Ventricular septal defect OMIM:618067
Developmental And Epileptic Encephalopathy 90
Atrial septal defect, Hypothyroidism, Fetal pyelectasis OMIM:301058
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Decreased fetal movement, Atrial septal defect, Aortic aneurysm, Polyhydramnios, Urinary incontin... OMIM:620070
Generalized Glucocorticoid Resistance Syndrome
Adrenal hyperplasia, Stroke, Increased circulating ACTH level, Ambiguous genitalia, Increased cir... ORPHA:786
Pseudo-Torch Syndrome 2
Secundum atrial septal defect, Abnormal renal corticomedullary differentiation, Pleural effusion,... OMIM:617397
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect ORPHA:52056
Cat Eye Syndrome
Hydronephrosis, Hypoplastic left heart, Pulmonic stenosis, Ventricular septal defect, Horseshoe k... OMIM:115470
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... OMIM:620203
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Hyperinsulinemia,... OMIM:620211
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Neoplasm of the thyroid gland, Venous insufficiency, Arteriovenous malformation, Congestive heart... ORPHA:137608
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Recurrent viral upper respiratory tract infections, Ventricular septal defect OMIM:616898
20Q13.33 Microdeletion Syndrome
Hematochezia, Atrial septal defect, Hypoplastic aortic arch, Decreased scrotal rugation, Oligohyd... ORPHA:261311
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Hydronephrosis, Cryptorchidism, Atrial septal defect, Ventricular septal defect, Patent ductus ar... ORPHA:457193
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Hyperaldosteronism, Renal cell carcinoma, Abnormal response to corticotropin releasing hormone st... ORPHA:189427
Lessel-Kreienkamp Syndrome
Pulmonic stenosis, Atrial septal defect, Bicuspid aortic valve, Patent foramen ovale, Patent duct... OMIM:619149
Intellectual Disability-Strabismus Syndrome
Cryptorchidism, Micropenis, Atrial septal defect, Polyhydramnios, Decreased response to growth ho... ORPHA:363528
Encephalocraniocutaneous Lipomatosis
Hydronephrosis, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Subvalvular aort... OMIM:613001
Cardiomyopathy, Dilated, 1Oo
Reduced left ventricular ejection fraction, Atrial septal defect, Second degree atrioventricular ... OMIM:620247
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Increased circulating cortisol level, Hypertension, Primary hypercortisolism... OMIM:219080
Primary Ciliary Dyskinesia
Situs inversus totalis, Recurrent sinopulmonary infections, Atrial situs ambiguous, Atelectasis, ... ORPHA:244
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Hydrops fetalis ORPHA:766
Diamond-Blackfan Anemia
Radial artery aplasia, Nonimmune hydrops fetalis, Coarctation of aorta, Ventricular septal defect... ORPHA:124
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Coarctation of aorta, Nodular goiter, Atrial septal defect, Polycystic ovaries, Ventricular septa... ORPHA:371428
Noonan Syndrome 2
Increased nuchal translucency, Cryptorchidism, Coarctation of aorta, Pulmonic stenosis, Ventricul... OMIM:605275
Kapur-Toriello Syndrome
Cryptorchidism, Micropenis, Ventricular septal defect, Atrial septal defect, Hypoplastic labia ma... OMIM:244300
Teebi Hypertelorism Syndrome 1
Shawl scrotum, Aortic root aneurysm, Ventricular septal defect, Atrial septal defect, Pulmonary h... OMIM:145420
Achondrogenesis, Type Ia
Increased nuchal translucency, Hydrops fetalis, Polyhydramnios, Pulmonary hypoplasia, Stillbirth,... OMIM:200600
Noonan Syndrome 5
Cryptorchidism, Pulmonic stenosis, Atrial septal defect, Arrhythmia, Polyhydramnios, Hypertrophic... OMIM:611553
Acrocardiofacial Syndrome
Cryptorchidism, Coarctation of aorta, Ventricular septal defect, Atrial septal defect, Tetralogy ... ORPHA:2008
46,Xx Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, Pulmonary fibrosis, Decreased serum estradiol, Streak ovary... ORPHA:243
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Decreased testicular size, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dilat... OMIM:300998
Fanconi Anemia, Complementation Group I
Abnormal renal morphology, Ventricular septal defect, Horseshoe kidney, Atrial septal defect, Dec... OMIM:609053
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation, Atrial septal defect OMIM:613087
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Ventricular septal defect, Cystic renal dysplasia, Atrial septal defect, Thickened nuchal skin fo... OMIM:220500
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Recurrent respiratory infections, Atelectasis, Atrial septal defect, Ventricular septal defect, C... OMIM:610978
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Adrenal hyperplasia, Increased circulating ACTH level, Female external genitalia in individual wi... ORPHA:90790
19P13.12 Microdeletion Syndrome
Cryptorchidism, Mitral regurgitation, Precocious puberty, Ventricular septal defect, Atrial septa... ORPHA:254346
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Atrial septal defect, Ventricular septal defect, Umbilical hernia, Recurrent pneumonia, Patent du... OMIM:619769
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Hypertension, Decreased circulating ACTH level, Macronodula... OMIM:615954
Ovarian Dysgenesis 10
Delayed puberty, Hypoplasia of the ovary, Elevated circulating follicle stimulating hormone level... OMIM:619834
Ovarian Dysgenesis 9
Delayed puberty, Hypoplasia of the ovary, Decreased cirrculating antimullerian hormone circulatio... OMIM:619665
Chronic Thromboembolic Pulmonary Hypertension
Pulmonary arterial hypertension, Abnormal T-wave, Edema, Syncope, Palpitations, Pulmonary embolis... ORPHA:70591
Developmental And Epileptic Encephalopathy 18
Polyhydramnios, Oligohydramnios, Aortic regurgitation, Atrial septal defect OMIM:615476
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Proteus Syndrome
Venous malformation OMIM:176920
Intellectual Developmental Disorder, Autosomal Recessive 65
Secundum atrial septal defect, Cryptorchidism, Atrial septal defect, Supernumerary nipple, Hyposp... OMIM:618109
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Diabetes mellitus, Increased circulating cortisol level, Hypertension, Prima... OMIM:615830
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Bicuspid aortic valve, Recurrent lower respiratory tract infections, Atrial septal defect OMIM:617744
Congenital Disorder Of Glycosylation, Type Iil
Ventricular septal defect, Atrial septal defect, Unilateral renal agenesis, Proximal tubulopathy,... OMIM:614576
Nestor-Guillermo Progeria Syndrome
Pulmonary arterial hypertension, Mitral regurgitation, Prominent superficial veins, Left atrial e... OMIM:614008
Heterotaxy, Visceral, 5, Autosomal
Pulmonary artery atresia, Ureteral stenosis, Dextrocardia, Double inlet left ventricle, Atrial re... OMIM:270100
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Cryptorchidism, Ventricular septal defect, Atrial septal defect, Unilateral renal agenesis, Neona... OMIM:620024
Hemihyperplasia-Multiple Lipomatosis Syndrome
Abnormal cerebral vascular morphology, Enlarged kidney, Telangiectasia of the skin, Ovarian serou... ORPHA:276280
Ellis Van Creveld Syndrome
Situs inversus totalis, Aplasia/Hypoplasia of the lungs, Abnormality of the kidney, Cryptorchidis... ORPHA:289
Lymphedema-Distichiasis Syndrome
Recurrent urinary tract infections, Proteinuria, Glomerulopathy, Renal duplication, Tubulointerst... ORPHA:33001
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Cryptorchidism, Mitral regurgitation, Aortic root aneurysm, Atrial septal defect, Ventricular sep... OMIM:301039
Gitelman Syndrome
Delayed puberty, Maternal diabetes, Decreased urinary potassium, Renal potassium wasting, Protein... ORPHA:358
22Q11.2 Deletion Syndrome
Polycystic kidney dysplasia, Abnormal pulmonary valve morphology, Atelectasis, Tetralogy of Fallo... ORPHA:567
Hypoplastic Left Heart Syndrome
Maternal diabetes, Hypoplastic left heart, Atrial septal defect, Mitral atresia, Hypoplastic aort... ORPHA:2248
Atelis Syndrome 1
Atrial septal defect, Hypothyroidism, Bronchiectasis, Ventricular septal defect OMIM:620184
Familial Multiple Nevi Flammei
Venous insufficiency, Edema, Arteriovenous malformation, Arrhythmia, Intracranial hemorrhage, Pul... ORPHA:624
Cystic Echinococcosis
Renal cyst, Abnormal heart morphology, Abnormality of the testis size, Pulmonary cyst, Membranous... ORPHA:400
Premature Ovarian Failure 10
Hypoplasia of the ovary, Decreased testicular size, Elevated circulating follicle stimulating hor... OMIM:612885
Burn-Mckeown Syndrome
Atrial septal defect, Unilateral renal agenesis, Renal hypoplasia, Ventricular septal defect OMIM:608572
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect OMIM:614262
8P11.2 Deletion Syndrome
Cryptorchidism, Hypogonadism, Atrial septal defect, Hypoplasia of penis, Azoospermia, Patent duct... ORPHA:251066
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Hydronephrosis, Atrial septal defect, Polyhydramnios, Pulmonary hypoplasia, Bladder trabeculation... OMIM:614080
Bone Dysplasia, Lethal Holmgren Type
Atrial septal defect, Recurrent respiratory infections, Patent ductus arteriosus, Hypertrophic ca... ORPHA:1842
Ovarian Dysgenesis 2
Delayed puberty, Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:300510
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Pulmonary arterial hypertension, Ventricular septal defect, Left ventricular hypertrophy, Hyperte... OMIM:615474
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Nephrocalcinosis, Atrial septal defect, Polyhydramnios, Recurrent lower respiratory tract infecti... OMIM:618005
Osteogenesis Imperfecta, Type Ii
Pulmonary insufficiency, Nonimmune hydrops fetalis, Congestive heart failure, Premature birth OMIM:166210
Magel2-Related Prader-Willi-Like Syndrome
Recurrent respiratory infections, Decreased testicular size, Cryptorchidism, Decreased fetal move... ORPHA:398069
Kagami-Ogata Syndrome
Pulmonary arterial hypertension, Pulmonic stenosis, Atrial septal defect, Ventricular septal defe... OMIM:608149
Fetal Akinesia Deformation Sequence 1
Short umbilical cord, Nonimmune hydrops fetalis, Cryptorchidism, Fetal akinesia sequence, Increas... OMIM:208150
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect, Precocious puberty OMIM:619356
Mucopolysaccharidosis-Plus Syndrome
Recurrent respiratory infections, Renal tubular atrophy, Proteinuria, Enlarged kidney, Atrial sep... OMIM:617303
Aortic Valve Disease 3
Aortic root aneurysm, Atrial septal defect, Bicuspid aortic valve, Aortic valve stenosis, Ascendi... OMIM:618496
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Increased nuchal translucency, Ventricular septal defect, Atrial septal defect, Tricuspid regurgi... OMIM:618870
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Ventricular septal defect, Right ventricular hypertrophy, Patent foramen ov... OMIM:614261
Joubert Syndrome 3
Stage 5 chronic kidney disease, Nephronophthisis, Atrial septal defect OMIM:608629
Perrault Syndrome 3
Elevated circulating follicle stimulating hormone level, Hypoplasia of the uterus, Hypergonadotro... OMIM:614129
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Pyelonephritis, Varicose veins, Renal dysplasia, Unilateral renal atrophy, Nephri... OMIM:314300
Pearson Marrow-Pancreas Syndrome
Dehydration, Complex organic aciduria, Hydrops fetalis, Renal Fanconi syndrome, Hypercalciuria, P... OMIM:557000
Penile Agenesis
Hydronephrosis, Maternal diabetes, Cryptorchidism, Ambiguous genitalia, Fetal pyelectasis, Ventri... ORPHA:49
Fg Syndrome Type 1
Pulmonary arterial hypertension, Cryptorchidism, Coarctation of aorta, Atrial septal defect, Umbi... ORPHA:93932
Cutis Laxa, Autosomal Recessive, Type Ic
Hypoplasia of the thymus, Hydronephrosis, Adrenal hypoplasia, Breech presentation, Atelectasis, U... OMIM:613177
Diamond-Blackfan Anemia 7
Secundum atrial septal defect, Ventricular septal defect, Horseshoe kidney, Tetralogy of Fallot, ... OMIM:612562
16P12.1P12.3 Triplication Syndrome
Atrial septal defect, Decreased response to growth hormone stimulation test, Abnormal heart morph... ORPHA:485405
Atrial Septal Defect 8
Anomalous pulmonary venous return, Atrial septal defect OMIM:614433
Short-Rib Thoracic Dysplasia 12
Ambiguous genitalia, Ventricular septal defect, Edema, Hypoplastic nipples, Polyhydramnios, Atele... OMIM:269860
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Pulmonary artery atresia, Ventricular septal defect, Tetralogy of ... OMIM:108900
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Ambiguous genitalia, Isosexual precocious pu... ORPHA:90795
Foix-Alajouanine Syndrome
Cervical myelopathy, Urinary retention, Neurogenic bladder, Functional abnormality of the bladder... ORPHA:79093
Congenital Tracheomalacia
Pulmonary arterial hypertension, Right aortic arch, Atrial septal defect, Tetralogy of Fallot, Ve... ORPHA:95430
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Abnormal renal morphology, Atrial septal defect, Ventricular septal defect, Aortic aneurysm, Abno... ORPHA:477817
Fanconi Anemia
Abnormal renal morphology, Tetralogy of Fallot, Atrial septal defect, Hydroureter, Abnormal aorti... ORPHA:84
Congenital Heart Defects And Skeletal Malformations Syndrome
Repeated pneumothoraces, Cryptorchidism, Coarctation of aorta, Aortic root aneurysm, Ventricular ... OMIM:617602
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Dextrocardia, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Thoracic aortic... OMIM:619657
Temple-Baraitser Syndrome
Pulmonic stenosis, Atrial septal defect OMIM:611816
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Abnormality of the Leydig cells, Micropenis, Elevated circulating follicle stimu... OMIM:228300
Lujan-Fryns Syndrome
Macroorchidism, Atrial septal defect ORPHA:776
Doors Syndrome
Hydronephrosis, Adrenal hyperplasia, Sirenomelia, Aspiration pneumonia, Nephrocalcinosis, Ambiguo... ORPHA:79500
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Secundum atrial septal defect, Increased nuchal translucency, Mitral regurgitation, Coarctation o... OMIM:620066
Basel-Vanagaite-Smirin-Yosef Syndrome
Hydronephrosis, Pulmonary arterial hypertension, Ventricular septal defect, Atrial septal defect,... OMIM:616449
Genitopatellar Syndrome
Hydronephrosis, Cryptorchidism, Atrial septal defect, Clitoral hypertrophy, Pulmonary hypoplasia,... ORPHA:85201
Angioosteohypotrophic Syndrome
Prominent superficial veins, Venous malformation, Edema, Telangiectasia of the skin ORPHA:75508
Tarp Syndrome
Premature rupture of membranes, Hydronephrosis, Atrial septal defect, Horseshoe kidney, Subdural ... OMIM:311900
Premature Ovarian Failure 8
Elevated circulating follicle stimulating hormone level, Decreased serum estradiol, Streak ovary,... OMIM:615723
20P12.3 Microdeletion Syndrome
Wolff-Parkinson-White syndrome, Atrial septal defect ORPHA:261295
Laubry-Pezzi Syndrome
Dilatation of the sinus of Valsalva, Right ventricular outlet tract obstruction, Abnormal coronar... ORPHA:99094
Tetraamelia Syndrome 1
Peripheral pulmonary vessel aplasia, Hypoplasia of the fallopian tube, Absent external genitalia,... OMIM:273395
Histiocytoid Cardiomyopathy
Right bundle branch block, Ventricular tachycardia, Wolff-Parkinson-White syndrome, Renal cyst, V... ORPHA:137675
Autoimmune Lymphoproliferative Syndrome
Vasculitis, Glomerulonephritis, Hydrops fetalis, Renal insufficiency, Pulmonary fibrosis, Thyroid... ORPHA:3261
H Syndrome
Delayed puberty, Decreased testicular size, Abnormality of the kidney, Micropenis, Enlarged kidne... ORPHA:168569
Premature Ovarian Failure 18
Hypoplasia of the ovary, Decreased cirrculating antimullerian hormone circulation, Elevated circu... OMIM:619203
Shashi-Pena Syndrome
Atrial septal defect, Unilateral renal agenesis, Mild fetal ventriculomegaly, Patent ductus arter... OMIM:617190
Mosaic Variegated Aneuploidy Syndrome
Increased nuchal translucency, Coarctation of aorta, Ambiguous genitalia, Atrial septal defect, H... ORPHA:1052
Familial Cutaneous Collagenoma
Cardiomyopathy, Angina pectoris, Congestive heart failure, Atrial septal defect ORPHA:53296
Satoyoshi Syndrome
Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Hypoplasia of ... ORPHA:3130
Hypomandibular Faciocranial Dysostosis
Recurrent respiratory infections, Abnormal morphology of female internal genitalia, Atrial septal... ORPHA:1790
15Q11.2 Microdeletion Syndrome
Coarctation of aorta, Atrial septal defect, Total anomalous pulmonary venous return, Tetralogy of... ORPHA:261183
Ehlers-Danlos Syndrome, Vascular Type
Repeated pneumothoraces, Carotid cavernous fistula, Cystocele, Pneumothorax, Pulmonary bleb, Mitr... OMIM:130050
Ritscher-Schinzel Syndrome 2
Cryptorchidism, Atrial septal defect, Ventricular septal defect, Pulmonary artery hypoplasia, Pat... OMIM:300963
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Frontal encephalocele, Atrial septal defect ORPHA:521308
Recombinant 8 Syndrome
Abnormality of the kidney, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Tetra... ORPHA:96167
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Cardiofaciocutaneous Syndrome 3
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis, Hypertrophic cardiomyopathy OMIM:615279
Chromosome 9P Deletion Syndrome
Micropenis, Ventricular septal defect, Atrial septal defect, Perimembranous ventricular septal de... OMIM:158170
Wolcott-Rallison Syndrome
Dehydration, Neonatal insulin-dependent diabetes mellitus, Chronic kidney disease, Central hypoth... ORPHA:1667
Potocki-Lupski Syndrome
Hypothyroidism, Abnormal renal morphology, Patent foramen ovale, Atrial septal defect OMIM:610883
Snijders Blok-Campeau Syndrome
Umbilical hernia, Perimembranous ventricular septal defect, Pulmonic stenosis, Atrial septal defect OMIM:618205
Kaposi Sarcoma
Venous insufficiency, Abnormal lung morphology, Lymphedema ORPHA:33276
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect OMIM:113301
Thanatophoric Dysplasia Type 1
Increased nuchal translucency, Aplasia/Hypoplasia of the lungs, Abnormality of the kidney, Atrial... ORPHA:1860
White Forelock With Malformations
Spina bifida occulta, Atrial septal defect ORPHA:2475
Frontoocular Syndrome
Pulmonic stenosis, Atrial septal defect OMIM:605321
Renal Nutcracker Syndrome
Microscopic hematuria, Proteinuria, Dilatation of mesenteric artery, Syncope, Renal artery stenos... ORPHA:71273
Mogs-Cdg
Inappropriate antidiuretic hormone secretion, External genital hypoplasia, Atrial septal defect, ... ORPHA:79330
Maternal Uniparental Disomy Of Chromosome 6
Clitoral hypertrophy, Hydrocele testis, Increased serum testosterone level, Congenital adrenal hy... ORPHA:96181
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Delayed puberty, Hypoplasia of the ovary, Breast hypoplasia, Hypothalamic gonadotropin-releasing ... ORPHA:2235
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Secundum atrial septal defect, Coarctation of aorta, Atrial septal defect, Ventricular septal def... OMIM:600987
Premature Ovarian Failure 5
Hypoplasia of the ovary, Streak ovary OMIM:611548
Chromosome 10Q26 Deletion Syndrome
Cryptorchidism, Micropenis, Atrial septal defect, Small scrotum, Patent ductus arteriosus, Vesico... OMIM:609625
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Nephrocalcinosis, Increased pineal volume, Ventricular septal... ORPHA:769
Epilepsy, Early-Onset, With Or Without Developmental Delay
Patent foramen ovale, Hydrocele testis OMIM:618832
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Pulmonic stenosis, Ventricular septal defect, Atrial septal defec... OMIM:619343
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Ventricular tachycardia, Tachycardia, Ventricular septal defect, Atrial septal defect, Arrhythmia... ORPHA:26793
Chromosome 6Pter-P24 Deletion Syndrome
Tetralogy of Fallot, Atrial septal defect, Ventricular septal defect, Umbilical hernia, Telangiec... OMIM:612582
Chops Syndrome
Cryptorchidism, Aspiration pneumonia, Ventricular septal defect, Horseshoe kidney, Patent foramen... OMIM:616368
Specc1L-Related Hypertelorism Syndrome
Shawl scrotum, Cryptorchidism, Ventricular septal defect, Ectopic kidney, Arrhythmia, Atrial sept... ORPHA:1519
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Stroke, Abnormal cerebral vascular morphology, Recurrent respiratory infections, Atrial septal de... ORPHA:2637
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Heparan sulfate excretion in urine, Recurrent respiratory infections, Proteinuria, Pulmonary arte... ORPHA:505248
Fryns Syndrome
Hydronephrosis, Cryptorchidism, Shawl scrotum, Renal cyst, Ventricular septal defect, Atrial sept... OMIM:229850
Atrial Septal Defect 1
Secundum atrial septal defect, Ventricular septal defect, Atrial septal defect, Second degree atr... OMIM:108800
Noonan Syndrome 13
Cryptorchidism, Mitral regurgitation, Atrial septal defect, Duplicated collecting system, Lymphed... OMIM:619087
Mosaic Variegated Aneuploidy Syndrome 1
Cryptorchidism, Micropenis, Pulmonic stenosis, Renal cyst, Ambiguous genitalia, Atrial septal def... OMIM:257300
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Abnormal cerebral vascular morphology, Venous insufficiency, Pulmonary embolism ORPHA:745
Yunis-Varon Syndrome
Pulmonary arterial hypertension, Cryptorchidism, Aspiration pneumonia, Micropenis, Tetralogy of F... OMIM:216340
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hydronephrosis, Cryptorchidism, Micropenis, Ventricular septal defect, Atrial septal defect, Intr... ORPHA:163979
Perrault Syndrome 4
Hypoplasia of the ovary, Hypoplasia of the uterus, Decreased serum estradiol, Increased circulati... OMIM:615300
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Abnormal lung lobation, Nephrocalcinosis, Renal cyst, Atrial septal defect, Hypoparathyroidism, C... ORPHA:369837
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:612310
Linear Skin Defects With Multiple Congenital Anomalies 1
Micropenis, Ventricular septal defect, Atrial septal defect, Arrhythmia, Clitoral hypertrophy, Hy... OMIM:309801
Chromosome 6Q24-Q25 Deletion Syndrome
Dysplastic tricuspid valve, Dysplastic pulmonary valve, Atrial septal defect, Tricuspid regurgita... OMIM:612863
Ovarian Hyperstimulation Syndrome
Increased serum testosterone level, Generalized edema, Capillary leak, Pulmonary edema, Ovarian c... ORPHA:64739
Hardikar Syndrome
Ventricular septal defect, Atrial septal defect, Hydroureter, Patent foramen ovale, Recurrent uri... OMIM:301068
Enlarged Parietal Foramina
Abnormal cerebral vein morphology, Occipital encephalocele, Venous malformation, Myelomeningocele ORPHA:60015
Restrictive Dermopathy 1
Premature rupture of membranes, Short umbilical cord, Adrenal hypoplasia, Decreased fetal movemen... OMIM:275210
Noonan Syndrome 3
Cryptorchidism, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Polyhydramnio... OMIM:609942
Schinzel-Giedion Syndrome
Hydronephrosis, Micropenis, Renal cyst, Central hypothyroidism, Abnormality of the ureter, Umbili... ORPHA:798
Angioosteohypertrophic Syndrome
Peripheral arteriovenous fistula, Venous insufficiency, Tricuspid valve prolapse, Pulmonary embol... ORPHA:2346
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Hydronephrosis, Heart murmur, Vesicoureteral reflux, Micropenis, Cryptorchidism, Supernumerary ni... OMIM:618653
Loeys-Dietz Syndrome 3
Atrial septal defect, Arterial tortuosity, Ventricular hypertrophy, Tortuous cerebral arteries, C... OMIM:613795
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Atrial septal defect, Cryptorchidism, Ventricular septal defect OMIM:617452
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Right atrial enlargement, Atrial septal defect OMIM:615219
Premature Ovarian Failure 9