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
Abnormal renal tubule morphology, Hydrops fetalis, Multicystic kidney dysplasia, Renal insufficie... ORPHA:1909
Meacham Syndrome
Enlarged kidney, Bicuspid aortic valve, Septate vagina, Congenital alveolar dysplasia, Blind vagi... OMIM:608978
Partial Atrioventricular Septal Defect
Coronary sinus enlargement, Aortic valve stenosis, Heart murmur, Bicuspid aortic valve, Abnormal ... ORPHA:1330
Mayer-Rokitansky-Küster-Hauser Syndrome
Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, Endometriosis, Aplasia of t... ORPHA:3109
Congenital Heart Block
Peripheral edema, Congestive heart failure, Hydrops fetalis, Bradycardia, Prolonged QTc interval,... ORPHA:60041
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hydrops fetalis, Hypospadias, Fetal akinesia sequence, Bradycardia, Hypertrophic cardiomyopathy, ... OMIM:618815
Klippel-Trénaunay Syndrome
Congestive heart failure, Gastrointestinal hemorrhage, Hydrops fetalis, Hematuria, Abnormal tricu... ORPHA:90308
Leopard Syndrome 1
Delayed puberty, Hypospadias, Unilateral renal agenesis, Spina bifida occulta, Hypoplasia of the ... OMIM:151100
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Myelomeningocele, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Bilat... OMIM:306955
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar... OMIM:613751
Partial Androgen Insensitivity Syndrome
Blind vagina, Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Hy... ORPHA:90797
Transaldolase Deficiency
Abnormality of the kidney, Hydrops fetalis, Abnormal clitoris morphology, Coarctation of aorta, E... ORPHA:101028
Right Atrial Isomerism
Abnormal lung lobation, Situs inversus totalis, Transposition of the great arteries, Dextrocardia... OMIM:208530
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Right aor... OMIM:620642
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Hydrops fetalis, Lymphedema, Vascular ring, Patent ductus arteriosus, Overriding ... OMIM:601927
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated urinary 4-hydroxybutyric acid, Cardiomyopathy, Pulmonary arterial hypertension, Neonatal... OMIM:619003
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
Diffuse Neonatal Hemangiomatosis
Polyhydramnios, Renal hypoplasia/aplasia, Hydrops fetalis, Abnormal vagina morphology, Ascites, P... ORPHA:2123
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot... OMIM:614779
Congenital Disorder Of Glycosylation, Type Ik
Nonimmune hydrops fetalis, Cardiomyopathy, Hypogonadism, Abnormality of the amniotic fluid OMIM:608540
Heterotaxy, Visceral, 12, Autosomal
Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P... OMIM:619702
Trisomy 13
Abnormal lung lobation, Hydrops fetalis, Ventricular septal defect, Abnormality of the ureter, Hy... ORPHA:3378
Mosaic Trisomy 9
Hypoplasia of penis, Multiple renal cysts, Oligohydramnios, Single umbilical artery, Hydrops feta... ORPHA:99776
Infantile Sialic Acid Storage Disease
Congestive heart failure, Hydrops fetalis, Ascites, Nephrotic syndrome, Premature birth, Cardiome... OMIM:269920
Fetal Parvovirus Syndrome
Hydrops fetalis, Ascites, Hypertrophic cardiomyopathy, Increased nuchal translucency ORPHA:295
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Hydrops fetalis, Polyhydramnios, Adrenal hypoplasia, Pulmonary hypoplasia, Nonimmune hydrops fetalis OMIM:613124
Hydrops Fetalis
Abnormality of the kidney, Polyhydramnios, Capillary leak, Lymphedema, Pleural effusion, Ascites,... ORPHA:1041
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Small pituitary gla... ORPHA:2232
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Single umbilical artery, Hydrops fetalis, Polyhydramnios, Hypospadias, Pleural effusion, Ascites,... OMIM:616897
Neuraminidase Deficiency
Hydrops fetalis, Bone-marrow foam cells, Cardiomyopathy, Ascites, Urinary excretion of sialylated... OMIM:256550
Ellis-Van Creveld Syndrome
Epispadias, Hypospadias, Common atrium, Atrial septal defect, Cryptorchidism OMIM:225500
Trisomy 1Q
Hydrops fetalis, Polyhydramnios, Congenital megaureter, Ventricular septal defect, Increased nuch... ORPHA:261344
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Hydrops fetalis, Chylopericardium, Pleural effusion, Ascites, Pulmonary... ORPHA:2414
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Pulmonic stenosis, Mitral valve prolapse, Edema, Hypoplasia of right ven... OMIM:212093
Lymphatic Malformation 12
Polyhydramnios, Pleural thickening, Lymphedema, Hydrocele testis, Fetal pericardial effusion, Neo... OMIM:620014
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inlet ventricular septal defect, Ascites, Left-to-right shunt, Dark urine, Edema, Stage 5 chronic... OMIM:619534
Cardioacrofacial Dysplasia 2
Common atrium, Left superior vena cava draining to coronary sinus, Atrioventricular canal defect OMIM:619143
Cardiomyopathy, Familial Hypertrophic, 27
Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper... OMIM:618052
Megabladder, Congenital
Atrial septal defect, Multiple glomerular cysts, Fetal megacystis, Left ventricular noncompaction... OMIM:618719
Sialidosis Type 2
Hydrops fetalis, Ascites, Umbilical hernia, Nephropathy, Pedal edema ORPHA:87876
Congenital Gerbode Defect
Elevated right atrial pressure, Left-to-right shunt, Pulmonic stenosis, Constrictive pericarditis... ORPHA:99095
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Ascites, Myofiber disarray, Cardiomegaly, Ventricular septal hypertrophy... OMIM:115197
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Dilatation of the bladder, Nonimmune hydrops fetalis, Dysplastic tricuspid valve, Bicuspid aortic... OMIM:265380
Ovarian Dysgenesis 3
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:614324
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ovotestis, Hypospadias, Bilateral lung agenesis, Renal agenesis, Congenital pulmonary airway malf... OMIM:611812
Lymphatic Malformation 1
Hyperkeratosis over edematous areas, Hypoplasia of lymphatic vessels, Predominantly lower limb ly... OMIM:153100
Monosomy 13Q34
Pulmonic stenosis, Common atrium, Epistaxis, Hematochezia, Fetal pyelectasis ORPHA:96168
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypertension, Ventricular hypertrophy, Nephrolithiasis, Pulmonary arterial hypertension, Abnormal... ORPHA:369929
Nuchal Bleb, Familial
Stillbirth, Hydrops fetalis, Fetal cystic hygroma OMIM:257350
Mulibrey Nanism
Congestive heart failure, Hydrops fetalis, Cardiomegaly, Recurrent lower respiratory tract infect... OMIM:253250
Glycogen Storage Disease Iv
Hydrops fetalis, Polyhydramnios, Bradycardia, Tubulointerstitial fibrosis, Cardiomyopathy, Ascite... OMIM:232500
Prune Belly Syndrome
Hydroureter, Recurrent respiratory infections, Renal insufficiency, Abnormality of the bladder, R... ORPHA:2970
Bardet-Biedl Syndrome 19
External genital hypoplasia, Partial atrioventricular canal defect, Renal hypoplasia, Hydronephro... OMIM:615996
Congenital Disorder Of Glycosylation, Type Il
Hydrops fetalis, Polycystic kidney dysplasia, Ascites, Fetal skin edema, Pericardial effusion, De... OMIM:608776
Cardiomyopathy, Familial Restrictive, 6
Pulmonary insufficiency, Hydrops fetalis, Restrictive cardiomyopathy, Ascites, Tricuspid regurgit... OMIM:619433
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hematuria, Hypertension, Ascites, Pulmonary arterial hypertension, Fetal pericardial effusion, No... OMIM:617021
Familial Isolated Restrictive Cardiomyopathy
Left atrial enlargement, Peripheral edema, Pulmonary edema, Recurrent respiratory infections, Atr... ORPHA:75249
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal QRS complex, Fetal distress, Hydrops fetalis, Mate... ORPHA:45452
Lymphatic Malformation 13
Single umbilical artery, Patent foramen ovale, Lymphedema, Ascites, Pulmonary arterial hypertensi... OMIM:620244
Arterial Calcification, Generalized, Of Infancy, 2
Congestive heart failure, Coronary artery calcification, Reduced left ventricular ejection fracti... OMIM:614473
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Polyhydramnios, Hydrops fetalis, Fetal pericardial effusion, Fetal pleural effusion, Fetal ascites OMIM:619462
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Intestinal lymphangiectasia, Ectopic kidney, Spina bifida occulta, ... OMIM:235510
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Achondrogenesis, Type Ib
Stillbirth, Polyhydramnios, Breech presentation, Hydrops fetalis, Umbilical hernia, Edema OMIM:600972
Isolated Right Ventricular Hypoplasia
Abnormal atrioventricular conduction, Congestive heart failure, Bidirectional shunt, Muscular ven... ORPHA:439
Li-Campeau Syndrome
Patent foramen ovale, Ventricular septal defect, Hypothyroidism, Patent ductus arteriosus, Atrial... OMIM:619189
Lymphatic Malformation 6
Facial edema, Polyhydramnios, Intestinal lymphangiectasia, Chylothorax, Genital edema, Lymphedema... OMIM:616843
Scimitar Syndrome
Bronchogenic cyst, Pulmonary sequestration, Mitral atresia, Left-to-right shunt, Abnormal heart m... ORPHA:185
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Single umbilical artery, Polyhydramnios, Abnormal tricuspid valve morphology, Hydrops fetalis, Ab... ORPHA:3405
Boomerang Dysplasia
Decreased response to growth hormone stimulation test, Hydrops fetalis, Polyhydramnios, Cryptorch... ORPHA:1263
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuch... OMIM:617300
Hydrops Fetalis, Nonimmune
Congestive heart failure, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:236750
Mesoaxial Hexadactyly And Cardiac Malformation
External genital hypoplasia, Pulmonic stenosis, Patent ductus arteriosus, Atrial septal defect, V... OMIM:249670
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Hypospadias, Hypertrophic cardiomyopathy, Cardiomegaly,... OMIM:620135
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Polyhydramnios, Hydrops fetalis, Abnormality of the urinary system, Aplasia/Hypoplasia of the lungs ORPHA:2204
Coronary Arterial Fistula
Aortic valve stenosis, Abnormal heart morphology, Bicuspid aortic valve, Cardiomegaly, Right vent... ORPHA:2041
Achondrogenesis
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold, Umbilical hernia, Aplasia/Hypoplasia... ORPHA:932
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect, Recurrent respiratory infections, Decreased feta... OMIM:253300
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Abnormality of blood circulation, Abnormal aortic arch morphology, Abnormal... ORPHA:860
Cardiomyopathy, Dilated, 2D
Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Patent foramen ov... OMIM:619371
Adams-Oliver Syndrome 4
Umbilical hernia, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:615297
Lymphatic Malformation 8
Stillbirth, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune ... OMIM:618773
Achondrogenesis Type 1B
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold, Umbilical hernia, Aplasia/Hypoplasia... ORPHA:93298
Meacham Syndrome
Hypoplasia of penis, Abnormal vagina morphology, Pulmonary sequestration, Aortic valve stenosis, ... ORPHA:3097
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Congestive heart failure, Fourth heart sound, Left atrial enl... ORPHA:57777
Chondrodysplasia, Blomstrand Type
Stillbirth, Polyhydramnios, Hydrops fetalis, Preductal coarctation of the aorta, Premature birth,... OMIM:215045
Global Developmental Delay With Or Without Impaired Intellectual Development
Hypospadias, Pulmonary sequestration, Patent ductus arteriosus, Atrial septal defect, Ventricular... OMIM:618330
Achondrogenesis Type 1A
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold, Umbilical hernia, Aplasia/Hypoplasia... ORPHA:93299
14Q24.1Q24.3 Microdeletion Syndrome
Ectopic kidney, Truncus arteriosus, Ventricular septal defect, Pulmonary artery atresia, Abnormal... ORPHA:401935
Alg9-Cdg
Enlarged kidney, Hypoplasia of the ovary, Abnormal heart morphology, Decreased fetal movement, Ri... ORPHA:79328
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat... ORPHA:99106
Capillary Malformation-Arteriovenous Malformation
Congestive heart failure, High-output congestive heart failure, Arteriovenous malformation, Chylo... ORPHA:137667
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk OMIM:277740
Long-Olsen-Distelmaier Syndrome
Congestive heart failure, Secundum atrial septal defect, Nonimmune hydrops fetalis, Severely redu... OMIM:620609
Dyssegmental Dysplasia, Silverman-Handmaker Type
Single umbilical artery, Hydrops fetalis, Encephalocele, Abnormal heart morphology, Pulmonary hyp... ORPHA:1865
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male hypogona... ORPHA:261529
8p23.1 deletion syndrome
Atrial septal defect, Atrioventricular canal defect, Cryptorchidism, Abnormal heart morphology DECIPHER:39
Gm1 Gangliosidosis
Congestive heart failure, Hydrops fetalis, Cardiomyopathy, Aspiration pneumonia, Abnormal scrotum... ORPHA:354
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Hypercalciuria, Hypertension, Abnormal circulating renin, Glucocortocoid-i... ORPHA:251274
Atrial Septal Defect, Coronary Sinus Type
Presyncope, Pneumonia, Increased pulmonary vascular resistance, Supraventricular arrhythmia, Stro... ORPHA:99104
Combined Oxidative Phosphorylation Deficiency 57
Central diabetes insipidus, Diabetes insipidus, Cardiac arrest, Hypertrophic cardiomyopathy, Neph... OMIM:620167
Free Sialic Acid Storage Disease
Hydrops fetalis, Ascites, Nephrotic syndrome, Proteinuria, Recurrent respiratory infections ORPHA:834
Atrial Septal Defect, Ostium Secundum Type
Left-to-right shunt, Abnormal mitral valve morphology, Right ventricular dilatation, Supraventric... ORPHA:99103
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrops fetalis, Polyhydramnios, Anencephaly, Polycystic kidney dysplasia, Occipital meningocele,... OMIM:616546
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation, Intestinal bleeding OMIM:600195
Ventricular Septal Defect 1
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... OMIM:614429
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Pulmonic stenosis, Alveolar capillary dysplasia, R... OMIM:601186
Cardiomyopathy, Familial Hypertrophic, 26
Left atrial enlargement, Congestive heart failure, Left anterior fascicular block, Left bundle br... OMIM:617047
Congenital Enterovirus Infection
Myocarditis, Fetal distress, Hydrops fetalis, Polyhydramnios, Cardiomyopathy, Hypotension, Pleura... ORPHA:292
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Stroke, Cardiomyopathy, Ventricular septal defect, Diabetes mellitus, Arr... OMIM:249270
Tricuspid Atresia
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for... ORPHA:1209
3-Methylglutaconic Aciduria, Type V
Congestive heart failure, 3-Methylglutaconic aciduria, Atrial septal defect, Prolonged QT interva... OMIM:610198
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... ORPHA:90793
Mucopolysaccharidosis Type 7
Hydrops fetalis, Arteriovenous malformation, Lymphedema, Ascites, Mucopolysacchariduria, Abnormal... ORPHA:584
Ritscher-Schinzel Syndrome 1
Single umbilical artery, Decreased response to growth hormone stimulation test, Hypospadias, Adre... OMIM:220210
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Hypoplasia of the thymus, Right atrial enlargement, Pericardial effus... OMIM:619313
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Polyhydramnios, Hydrops fetalis, Pericarditis, Oligohydramnios ORPHA:163596
Frasier Syndrome
Ambiguous genitalia, male, Glomerulopathy, Hypertension, Focal segmental glomerulosclerosis, Male... ORPHA:347
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat... ORPHA:90791
Limb-Mammary Syndrome
Breast aplasia, Aplasia of the uterus, Hypoplastic nipples, Absent nipple, Bilateral breast hypop... ORPHA:69085
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Palpebral edema, Hydrops fetalis, Predominantly lower limb lymphedema, Pleural effusion, Ascites,... ORPHA:69735
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Peripheral edema, Cardiomegaly, Reduced left ventricular ejection... ORPHA:1677
Pmm2-Cdg
Abnormal renal tubule morphology, Elevated circulating thyroid-stimulating hormone concentration,... ORPHA:79318
Congenital Myopathy 11
Polyhydramnios, Breech presentation, Patent ductus arteriosus, Patent foramen ovale, Decreased fe... OMIM:619967
Lethal Congenital Contracture Syndrome 10
Hydrops fetalis, Fetal akinesia sequence, Hypoplasia of the thymus, Pulmonary hypoplasia, Cardiom... OMIM:617022
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Right bundle branch block, Persistent left superior vena cava, ... OMIM:614954
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Hydrops fetalis, Myoglobinuria, Abnormality of the amniotic fluid, Arrh... OMIM:609015
Bardet-Biedl Syndrome 2
External genital hypoplasia, Hypogonadism, Bicuspid aortic valve, Atrial septal defect, Diabetes ... OMIM:615981
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Renal salt wasting, Hypospadias, Hypertension, Adrenal hyperplasia, Adrenogenital syndrome, Eleva... OMIM:201910
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Unilateral renal agenesis, Patent foramen ovale, Ventricular septal defect, Increased nuchal tran... OMIM:618494
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Pulmonic stenosis, Hydronephrosis, Tetralogy of Fallot, Patent ductus ... OMIM:179613
Lipoid Congenital Adrenal Hyperplasia
Renal salt wasting, Adrenogenital syndrome, Hypospadias, Congenital adrenal hyperplasia OMIM:201710
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Telangiectasia of extensor surfaces, Palpebral edema, Abnormal renal glomerulus morphology, Lymph... OMIM:137940
Congenital Myopathy 1B, Autosomal Recessive
Polyhydramnios, Hydrops fetalis, Pulmonary hypoplasia, Decreased fetal movement, Recurrent respir... OMIM:255320
Mucopolysaccharidosis, Type Vii
Hydrops fetalis, Abnormal heart valve morphology, Chronic bronchitis, Cardiomyopathy, Dermatan su... OMIM:253220
Long Qt Syndrome 3
Torsade de pointes, Hydrops fetalis, Prolonged QTc interval, Ventricular flutter, Ventricular fib... OMIM:603830
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Abnormal mitral valve morphology, Abnormality of the pulmona... ORPHA:1354
Mgat2-Cdg
Hydrops fetalis, Abnormality of the endocrine system, Reflex asystolic syncope, Hypoplastic nippl... ORPHA:79329
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Gaucher Disease Type 3
Delayed puberty, Abnormal pulmonary interstitial morphology, Hydrops fetalis, Hematuria, Abnormal... ORPHA:77261
Cardiomyopathy, Familial Restrictive, 3
Reduced left ventricular ejection fraction, Abnormal ST segment, Aortic aneurysm, Myocardial sarc... OMIM:612422
Congenital Disorder Of Glycosylation, Type Ia
Proximal tubulopathy, Cardiomyopathy, Renal cyst, Hypergonadotropic hypogonadism, Nephrotic syndr... OMIM:212065
Atrial Septal Defect 2
Atrioventricular canal defect, Aortic regurgitation, Dextrocardia, Pulmonic stenosis, Patent duct... OMIM:607941
Fetal Gaucher Disease
Stillbirth, Hydrops fetalis, Neonatal death, Intracranial hemorrhage, Decreased fetal movement, F... ORPHA:85212
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hydrops fetalis, Polycystic kidney dysplasia, Ventricular septal defect, Tricuspid regurgitation,... OMIM:263520
Gm1-Gangliosidosis, Type I
Congestive heart failure, Hydrops fetalis, Abnormal heart valve morphology, Hypertrophic cardiomy... OMIM:230500
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Pulmonary edema, Edema OMIM:178400
Truncus Arteriosus
Adrenocortical abnormality, Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposi... ORPHA:3384
Noonan Syndrome 8
Polyhydramnios, Ventricular septal defect, Pleural effusion, Hypertrophic cardiomyopathy, Pulmoni... OMIM:615355
Megalencephaly
Atrial septal defect, Macroorchidism, Long penis ORPHA:2477
Noonan Syndrome 2
Abnormal coronary artery origin, Atrioventricular canal defect, Polyhydramnios, Patent foramen ov... OMIM:605275
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Bilateral cryptorchidism, Tricuspid regurgitation, Patent ductus arteriosus... OMIM:618652
Hadziselimovic Syndrome
Ventricular hypertrophy, Pulmonary artery atresia, Renal hypoplasia, Tetralogy of Fallot, Atrial ... OMIM:612946
Alpha-Thalassemia
Congestive heart failure, Hydrops fetalis, Cholelithiasis, Pleural effusion, Generalized edema, P... ORPHA:846
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydrops fetalis, Atelectasis, Cardiomegaly, Retinal arterial tortuosity, Hydranencephaly, Patent ... OMIM:620371
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Left ventricular systolic dysfunction, Polyhydramnios, Ventricular bigeminy, Patent foramen ovale... OMIM:620519
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Left atrial enlargement, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Right atrial en... OMIM:619424
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Tric... ORPHA:555874
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Unilateral renal agenesis, Crossed fused renal ectopia, Patent ductus arter... OMIM:618142
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Patent ductus arteriosus, Tachycardia, Atrial septal defect, Ventricular septal def... OMIM:613870
Timothy Syndrome
Single umbilical artery, Pneumonia, Prolonged QT interval, Cardiomegaly, Bradycardia, Bronchitis,... OMIM:601005
Cardiac Diverticulum
Abnormal coronary artery origin, Premature ventricular contraction, Aortic valve stenosis, Abnorm... ORPHA:1686
Combined Oxidative Phosphorylation Deficiency 42
Cardiomyopathy, Premature birth, Nonimmune hydrops fetalis, Neonatal death, Decreased circulating... OMIM:618839
Generalized Arterial Calcification Of Infancy
Calcification of the aorta, Hypertension, Ventricular hypertrophy, Ascites, Nephrocalcinosis, Pan... ORPHA:51608
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre... OMIM:614841
Hydrolethalus Syndrome 1
Abnormal lung lobation, Stillbirth, Adrenal gland dysgenesis, Polyhydramnios, Hypospadias, Anence... OMIM:236680
Cardiac-Urogenital Syndrome
Enlarged kidney, Mesocardia, Aplasia of the uterus, Bifid scrotum, Coronary sinus enlargement, Dy... OMIM:618280
Xk Aprosencephaly Syndrome
Atrial septal defect, Abnormal external genitalia, Ventricular septal defect, Polyhydramnios ORPHA:3469
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Arrhythmia, Tetralogy of Fallot, No... OMIM:153400
Combined Oxidative Phosphorylation Deficiency 40
Hypertrophic cardiomyopathy, Neonatal death, Nonimmune hydrops fetalis, Premature birth, Decrease... OMIM:618835
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... ORPHA:251510
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Atrial septal defect, Atrial fibrillation, Aortic valve stenosis, Tetralog... OMIM:617912
Gm1 Gangliosidosis Type 1
Increased urinary galactosylated oligosaccharide, Abnormal placenta morphology, Hydrops fetalis, ... ORPHA:79255
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Congestive heart failure, Polyhydramnios, Ascites, Portal hypertension, Nonimmune hydrops fetalis... ORPHA:367
Emanuel Syndrome
Decreased fetal movement, Single umbilical artery, Unilateral renal agenesis, Recurrent respirato... OMIM:609029
Oligomeganephronia
Abnormal nephron morphology, Decreased glomerular filtration rate, Unilateral renal agenesis, Hyp... ORPHA:2260
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, male, Prolonged QT interval, Bifid scrotum, Bicuspid aortic... ORPHA:1772
Bdv Syndrome
Delayed puberty, Decreased thyroid-stimulating hormone level, Hyperinsulinemia, Reduced TSH respo... OMIM:619326
Absence Of The Pulmonary Artery
Abnormal inferior vena cava morphology, Abnormal heart morphology, Cardiomegaly, Abnormal cardiac... ORPHA:980
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal lung lobation, Atrioventricular canal defect, Abnormal aortic valve morphology, Tricuspi... ORPHA:1120
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hydrops fetalis, Hypospadias, Polycystic kidney dysplasia, Ascites, Renal cyst, Renal hypoplasia,... OMIM:614091
Familial Hyperaldosteronism Type I
Dexamethasone-suppressible primary hyperaldosteronism, Hypertension, Abnormal circulating renin, ... ORPHA:403
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic aciduria, Fetal distress, Homocystinuria, Pulmonary arterial hypertension, Coarctat... OMIM:614857
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Hypospadias, Recurrent respiratory infections, Patent foramen ovale, Vent... OMIM:618316
Combined Oxidative Phosphorylation Defect Type 27
Nonimmune hydrops fetalis ORPHA:477774
Trisomy X
Renal hypoplasia/aplasia, Precocious puberty, Atrial septal defect, Ventricular septal defect, Mu... ORPHA:3375
Alagille Syndrome 2
Hematuria, Renal tubular acidosis, Hypertension, Renal cyst, Pulmonic stenosis, Renal hypoplasia,... OMIM:610205
Fetal Trimethadione Syndrome
Transposition of the great arteries, Hypospadias, Tetralogy of Fallot, Ambiguous genitalia, Atria... ORPHA:1913
Abruzzo-Erickson Syndrome
Hypospadias, Abnormal localization of kidney, Atrial septal defect, Cryptorchidism, Coronal hypos... ORPHA:921
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Renal cyst, Sy... OMIM:617478
Ulnar Agenesis And Endocardial Fibroelastosis
Hydrops fetalis, Neonatal death, Endocardial fibroelastosis OMIM:276822
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Hypospadias, Abnormal vagina morphology, Nephropathy, Cryptorchidism, Abnormality of the uterus, ... OMIM:194072
Fraser Syndrome 3
Abnormal lung lobation, Stillbirth, Sonographic non-visualized fetal bladder, Small scrotum, Hypo... OMIM:617667
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Seizures-Scoliosis-Macrocephaly Syndrome
Abnormality of the kidney, Atrial septal defect, Cryptorchidism, Polyhydramnios ORPHA:466926
Campomelia, Cumming Type
Hydrops fetalis, Multicystic kidney dysplasia, Lymphedema, Oligohydramnios, Multiple renal cysts,... ORPHA:1318
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Congestive heart failure, Polyhydramnios, Diabetes insipidus, Nephrocalcinosis, Atrial septal defect ORPHA:500533
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno... ORPHA:95699
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic aciduria, Glomerulopathy, Hydrops fetalis, Hemolytic-uremic syndrome, Stroke, Dehyd... ORPHA:79282
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormality of the kidney, Perimembranous ventricular septal defect, Muscular ventricular septal ... ORPHA:363444
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:1388
46,Xx Sex Reversal 5
Increased serum testosterone level, Urogenital sinus anomaly, Secundum atrial septal defect, Ambi... OMIM:618901
Intellectual Developmental Disorder, Autosomal Dominant 21
Atrial septal defect, Cryptorchidism, Coarctation of aorta, Patent ductus arteriosus OMIM:615502
Autism Spectrum Disorder Due To Auts2 Deficiency
Atrial septal defect, Cryptorchidism, Abnormal heart morphology, Umbilical hernia ORPHA:352490
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Bradycardia, Pulmonic stenosis, Arrhythmia, Abnormal heart morphology, Discordant atr... ORPHA:216694
Mosaic Trisomy 16
Single umbilical artery, Large placenta, Maternal diabetes, Hypospadias, Single coronary artery o... ORPHA:1708
Adams-Oliver Syndrome 5
Patent foramen ovale, Pulmonary arterial hypertension, Right atrial enlargement, Pulmonic stenosi... OMIM:616028
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Premature birth, Nonimmune hydrops fetalis, Decreased circulating cortisol level OMIM:618838
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Peripheral arterial stenosis, Patent ductus arteriosus, Varicose veins, Ventri... OMIM:126320
Congenital Syphilis
Myocarditis, Large placenta, Hydrops fetalis, Nephrotic syndrome, Premature birth, Pneumonia ORPHA:499009
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Single umbilical artery, Abnormal renal morphology, Patent foramen ovale, Ventricular septal defe... ORPHA:329224
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Stroke, Cardiac arrest, Diabetes mellitus, Paroxysmal atrial tachycardi... ORPHA:49827
Polysyndactyly With Cardiac Malformation
Stillbirth, Polyhydramnios, Renal cyst, Atrial septal defect, Ventricular septal defect OMIM:263630
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Dilatation of the cerebral artery, Aortic valve stenosis, Lower eyel... ORPHA:363705
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:614432
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Premature pubarche, Penoscrotal hypospadias, Hypospadias, Impaired cortisol response to corticotr... OMIM:201810
Pearson Syndrome
Decreased response to growth hormone stimulation test, Hydrops fetalis, Hypoparathyroidism, Corne... ORPHA:699
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Abnormal aortic arch morphology, Abnormal descending aorta morphology, Aortopulmonary window, Lef... ORPHA:99050
Cranioectodermal Dysplasia 2
Hydrops fetalis, Polyhydramnios, Patent foramen ovale, Hypertension, Renal cyst, Bile duct prolif... OMIM:613610
Thanatophoric Dysplasia Type 2
Abnormality of the kidney, Polyhydramnios, Encephalocele, Increased nuchal translucency, Patent d... ORPHA:93274
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis, Hydrocele testis OMIM:616738
Smooth Muscle Dysfunction Syndrome
Dilatation of the cerebral artery, Vascular dilatation, Common carotid artery aneurysm, Brachioce... OMIM:613834
Hennekam Syndrome
Hydrops fetalis, Arteriovenous malformation, Ectopic kidney, Chylothorax, Lymphedema, Ascites, Pe... ORPHA:2136
Even-Plus Syndrome
Recurrent urinary tract infections, Patent foramen ovale, Vesicoureteral reflux, Renal hypoplasia... OMIM:616854
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormality of the endocrine system, Abnormal vena cava morphology, Ventricular septal defect, Re... ORPHA:166035
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Annular pancreas, Pulmonary valve atresia, Atrioventricular canal defect, ... ORPHA:210122
Familial Hyperaldosteronism Type Ii
Abnormal circulating renin, Hypertension, Glucocortocoid-insensitive primary hyperaldosteronism, ... ORPHA:404
Beta-Mercaptolactate Cysteine Disulfiduria
Umbilical hernia, Atrial septal defect, Abnormality of the ureter ORPHA:1035
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
8Q12 Microduplication Syndrome
Atrial septal defect, Vesicoureteral reflux, Ventricular septal defect ORPHA:228399
3C Syndrome
Single umbilical artery, Atrioventricular canal defect, Abnormal tricuspid valve morphology, Hypo... ORPHA:7
Anemia, Congenital Dyserythropoietic, Type Iv
Hydrops fetalis, Hypospadias, Hypertrophic cardiomyopathy, Hypothyroidism, Micropenis OMIM:613673
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Fetal distress, Bilateral fetal pyelectasis, Hydrops fetalis, Breech presentation, Polyhydramnios... OMIM:300868
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Ventricular septal defect, Pulmonary arterial hypertension, Congenital hypothyroidism, Micropenis... ORPHA:2519
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Dilated cardiomyopathy, Polycystic ovaries, Hypergonadotropic hypogonadism ORPHA:2229
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Polyhydramnios, Diabetes insipidus, Nephrocalcinosis, Premature birth, Atrial septal defect OMIM:611087
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Pulmonary insufficiency, Aortic regurgitation, Tricuspid regurgitation, Right atrial enlargement,... ORPHA:555877
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Renal salt wasting, Polyuria, Hydrops fetalis, Polyhydramnios, Decreased glomerular filtration ra... OMIM:602522
Meckel Syndrome, Type 4
Anencephaly, Encephalocele, Meningocele, Renal cyst, Bile duct proliferation, Atrial septal defec... OMIM:611134
Fibrochondrogenesis 1
Stillbirth, Patent foramen ovale, Hydrops fetalis OMIM:228520
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Dextrocardia, Encephalocele, Adrenal hypoplasia, Ventricular septal defect, Bi... OMIM:264480
Obesity Due To Congenital Leptin Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Pituitary hy... ORPHA:66628
Mycophenolate Mofetil Embryopathy
Hydrops fetalis, Coarctation of aorta, Ventricular septal defect, Ectopic kidney ORPHA:268249
Sifrim-Hitz-Weiss Syndrome
Vesicoureteral reflux, Ventricular septal defect, Coarctation of aorta, Tetralogy of Fallot, Micr... OMIM:617159
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Atrial septal defect OMIM:617408
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent lower respiratory tract infections, Recurrent respiratory infections, Neonatal omphalit... OMIM:612541
Tatton-Brown-Rahman Syndrome
Fetal distress, Vesicoureteral reflux, Tricuspid regurgitation, Umbilical hernia, Atrial septal d... OMIM:615879
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Posterior pituitary hypoplasia, Pulmonary artery stenosis, Renal hypoplasia, Abnormality of the a... ORPHA:75389
Gaucher Disease, Perinatal Lethal
Polyhydramnios, Ascites, Neonatal death, Nonimmune hydrops fetalis, Premature birth, Desquamation... OMIM:608013
Emanuel Syndrome
Decreased fetal movement, Single umbilical artery, Breech presentation, Unilateral renal agenesis... ORPHA:96170
Suleiman-El-Hattab Syndrome
Recurrent respiratory infections, Patent foramen ovale, Cryptorchidism, Hydronephrosis, Atrial se... OMIM:618950
Obesity Due To Leptin Receptor Gene Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Pituitary hy... ORPHA:179494
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... ORPHA:168563
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum ... OMIM:618841
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Persistent left superior vena cava, Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arterio... ORPHA:3304
Pentalogy Of Cantrell
Hypospadias, Anencephaly, Encephalocele, Renal agenesis, Abnormal pericardium morphology, Tetralo... ORPHA:1335
Fanconi Anemia, Complementation Group F
Single umbilical artery, Decreased response to growth hormone stimulation test, Polyhydramnios, P... OMIM:603467
Milroy Disease
Predominantly lower limb lymphedema, Lymphedema, Abnormal venous morphology, Varicose veins, Peda... ORPHA:79452
Greig Cephalopolysyndactyly Syndrome
Hypospadias, Abnormal heart morphology, Umbilical hernia, Atrial septal defect, Cryptorchidism OMIM:175700
Alg8-Cdg
Hydrops fetalis, Ascites, Premature birth, Edema, Oligohydramnios ORPHA:79325
Distal Triplication 15Q
Abnormality of the kidney, Hypoplastic aortic arch, Polycystic kidney dysplasia, Abnormal externa... ORPHA:314588
Meckel Syndrome, Type 7
Situs inversus totalis, Atrial septal defect, Multiple glomerular cysts, Pancreatic cysts, Portal... OMIM:267010
Alagille Syndrome
Delayed puberty, Renal hypoplasia/aplasia, Spina bifida occulta, Hypertension, Ventricular septal... ORPHA:52
Yunis-Varon Syndrome
Clitoral hypertrophy, Hydrops fetalis, Polyhydramnios, Hypospadias, Hypertension, Cardiomyopathy,... ORPHA:3472
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Atrioventricular canal defect, Azoospermia, Right aortic arch, Congenital... OMIM:618300
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Hypertension, Male pseudohermaphroditism, Adrenal hyperplasia, Adrenogenital syndrome, Ambiguous ... OMIM:202110
Cardiomyopathy, Familial Hypertrophic, 11
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... OMIM:612098
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Hypoplasia of the u... ORPHA:432
Renal-Hepatic-Pancreatic Dysplasia 1
Situs inversus totalis, Enlarged kidney, Hyperechogenic pancreas, Atrial septal defect, Polycysti... OMIM:208540
Preeclampsia
Abnormal placenta morphology, Acute kidney injury, Abnormality of the kidney, Pulmonary edema, El... ORPHA:275555
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Gonadal dysgenesis, Renal hypoplasia/aplasia, Abnormality of the ureter, Umbilical hernia, Polycy... ORPHA:1770
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Renal tubular acidosis, Patent foramen ovale, Dehydration, Nephrogenic diabetes insipidus, Oligoh... OMIM:208085
Hemochromatosis, Neonatal
Hepatocellular necrosis, Nonimmune hydrops fetalis, Oligohydramnios OMIM:231100
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia... OMIM:314390
Tyshchenko Syndrome
Polyhydramnios, Ventricular septal defect, Pulmonic stenosis, Premature birth, Atrial septal defe... OMIM:615102
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Polyhydramnios, Recurrent respiratory infections, Chylothorax, Lymphedema, Pleur... OMIM:265300
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Congestive heart failure, Patent ductus arteriosus, Atrial fibri... ORPHA:1880
X-Linked Intellectual Disability, Nascimento Type
Hypospadias, Patent foramen ovale, Vesicoureteral reflux, Ventricular septal defect, Peripheral p... ORPHA:163956
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Adre... ORPHA:3453
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Recurrent lower respiratory tract infect... OMIM:620233
16P13.11 Microduplication Syndrome
Transposition of the great arteries, Coarctation of aorta, Tetralogy of Fallot, Atrial septal def... ORPHA:261243
Tatton-Brown-Rahman Syndrome
Supraventricular tachycardia with an accessory connection mediated pathway, Aortic root aneurysm,... ORPHA:404443
Thymic Neuroendocrine Tumor
Neoplasm of the endocrine system, Pancreatic islet cell adenoma, Abnormal vena cava morphology, P... ORPHA:97289
Multiple Pterygium Syndrome, Escobar Variant
Absence of labia majora, Decreased fetal movement, Hydrops fetalis, Hypospadias, Hypoplastic nipp... OMIM:265000
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Left ventricular outflow tract obstruction, Hypoplastic pulm... OMIM:613854
S-Adenosylhomocysteine Hydrolase Deficiency
Hydrops fetalis, Cardiomyopathy ORPHA:88618
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Atrial septal defect, Urinary incontinence OMIM:620094
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Hydronephrosis, Nonimmune hydrops fetalis, Vesicoureteral reflux OMIM:618265
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Patent foramen ovale, Hydronephrosis, Patent ductus arteriosus, Atrial septal defect, Cryptorchidism OMIM:620327
Parkes Weber Syndrome
Spinal arteriovenous malformation, Arteriovenous malformation, Venous malformation, Vascular dila... ORPHA:90307
Brain-Lung-Thyroid Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Atrial septal defect, Abnormal pu... ORPHA:209905
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Precocious puberty in ... OMIM:202010
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Palpebral edema, Predominantly lower limb lymphedema, Abnormal sweat gland morphology, Nonimmune ... OMIM:607823
Seckel Syndrome 9
Decreased fetal movement, Clitoral hypertrophy, Polyhydramnios, Recurrent respiratory infections,... OMIM:616777
Mckusick-Kaufman Syndrome
Hydrometrocolpos, Renal hypoplasia/aplasia, Patent ductus arteriosus, Glandular hypospadias, Urog... ORPHA:2473
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Left superior vena cava draining to corona... OMIM:602782
Peroxisome Biogenesis Disorder 12A (Zellweger)
Decreased fetal movement, Cholelithiasis, Abnormality of the male genitalia, Patent ductus arteri... OMIM:614886
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Hypertension, Glucocortocoid-insensitive primary hyperaldoster... ORPHA:231580
Chromosome 5Q12 Deletion Syndrome
Patent foramen ovale, Hypotension, Increased nuchal translucency, Patent ductus arteriosus, Atria... OMIM:615668
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Ambiguous genitalia, Congenital adrenal hyperplasia OMIM:613571
Hyperaldosteronism, Familial, Type I
Decreased circulating renin level, Hypertension, Adrenal hyperplasia, Adrenogenital syndrome, Hyp... OMIM:103900
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Atrioventricular canal defect, Ventricular septal defect, Abnorma... ORPHA:392
Gaucher Disease
Delayed puberty, Abnormal pulmonary interstitial morphology, Hydrops fetalis, Hematuria, Cholelit... ORPHA:355
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hypercalciuria, Decreased circulating renin level, Hypertension, Adrenal hyperplasia, H... OMIM:613677
Thanatophoric Dysplasia
Abnormality of the kidney, Polyhydramnios, Increased nuchal translucency, Pulmonary hypoplasia, P... ORPHA:2655
Pericardial And Diaphragmatic Defect
Pulmonary sequestration, Abnormal heart morphology, Mitral stenosis, Tetralogy of Fallot, Pulmona... ORPHA:2847
Transketolase Deficiency
Increased level of ribose in urine, Patent foramen ovale, Renal cyst, Abnormal coronary artery co... ORPHA:488618
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:618974
Farber Disease
Hydrops fetalis, Atelectasis, Ascites, CNS foam cells, Cherry red spot of the macula, Recurrent u... ORPHA:333
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Congestive heart failure, Vascular dilatation, Aortic aneurysm, Arterial dissection, Aortic disse... ORPHA:1900
Greenberg Dysplasia
Abnormal lung lobation, Stillbirth, Large placenta, Hydrops fetalis, Polyhydramnios, Increased nu... OMIM:215140
Faciocardiomelic Syndrome
Common atrium OMIM:612731
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ureteral duplication, Pancreatic aplasia, Pulmonic stenosis, Umbilical hernia, Oligohydramnios, H... ORPHA:2255
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Patent foramen ovale, Tricuspid regurgitation, Aspiration ... OMIM:619167
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Bicuspid aortic valve, Clitoral hypertrophy, Hydroureter, Valvular pulmonary stenosis, Rectovagin... OMIM:300707
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus OMIM:617044
Chromosome 18Q Deletion Syndrome
Congestive heart failure, Decreased response to growth hormone stimulation test, Hypospadias, Rec... OMIM:601808
Phocomelia, Schinzel Type
Hydrops fetalis, Meningocele, Hypoplasia of penis, Aplasia of the uterus, Cryptorchidism ORPHA:2879
Carpenter Syndrome 1
External genital hypoplasia, Hydroureter, Transposition of the great arteries, Spina bifida occul... OMIM:201000
Gjc2-Related Late-Onset Primary Lymphedema
Edema of the dorsum of hands, Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedem... ORPHA:568051
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Multiple bladder diverticula, Proteinuria, Heart murmur, Small scrotum, Atrial septal defect, Cry... ORPHA:2728
Rudiger Syndrome
Ureterovesical stenosis, Micropenis, Bicornuate uterus, Ovarian cyst OMIM:268650
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Pulmonic stenosis, Umbilical hernia, Single umbilical artery, Perimembranou... OMIM:600001
Noonan Syndrome 4
Ureteral duplication, Polyhydramnios, Ventricular septal defect, Hypertrophic cardiomyopathy, Pul... OMIM:610733
Noonan Syndrome 10
Ventricular septal defect, Pleural effusion, Hypertrophic cardiomyopathy, Increased nuchal transl... OMIM:616564
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Atrioventricular canal defect, Branchial anomaly, Abnormal bladder morphology, Vesicoureteral ref... ORPHA:453499
Teebi Hypertelorism Syndrome 1
Single umbilical artery, Aortic root aneurysm, Bicornuate uterus, Pulmonary hypoplasia, Shawl scr... OMIM:145420
Schneckenbecken Dysplasia
Stillbirth, Polyhydramnios, Nonimmune hydrops fetalis, Umbilical hernia OMIM:269250
Pseudo-Torch Syndrome 2
Fetal distress, Bradycardia, Pleural effusion, Ascites, Abnormal renal corticomedullary different... OMIM:617397
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hypertension, Adrenal... OMIM:219080
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Urinary incontinence, Polyhydramnios, Aortic aneurysm, Multiple muscular ventricular septal defec... OMIM:620070
Platyspondylic Dysplasia, Torrance Type
Polyhydramnios, Hydrops fetalis, Pulmonary hypoplasia ORPHA:85166
Generalized Glucocorticoid Resistance Syndrome
Ambiguous genitalia, Abnormal circulating testosterone concentration, Stroke, Hypertension, Oligo... ORPHA:786
Linear Skin Defects With Multiple Congenital Anomalies 2
Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arterial hypertension OMIM:300887
Opitz Gbbb Syndrome
Atrial septal defect, Hypospadias, Aortic root aneurysm, Patent foramen ovale, Vesicoureteral ref... ORPHA:2745
Formiminoglutamic Aciduria
Atrial septal defect, Abnormal concentration of acylcarnitine in the urine ORPHA:51208
Buratti-Harel Syndrome
Dilation of Virchow-Robin spaces, Hypospadias, Recurrent pneumonia, Atrial septal defect, Cryptor... OMIM:619314
Congenital Rubella Syndrome
Type I diabetes mellitus, Patent ductus arteriosus, Abnormality of the pulmonary artery, Atrial s... ORPHA:290
Lessel-Kreienkamp Syndrome
Patent foramen ovale, Pulmonic stenosis, Patent ductus arteriosus, Bicuspid aortic valve, Atrial ... OMIM:619149
Noonan Syndrome 11
Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:618499
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Tetralogy of Fallot, Mitral valve prolapse, Patent ductus arteriosus, At... OMIM:612561
Developmental And Epileptic Encephalopathy 90
Hypothyroidism, Atrial septal defect, Fetal pyelectasis OMIM:301058
Transaldolase Deficiency
Clitoral hypertrophy, Patent foramen ovale, Coarctation of aorta, Patent ductus arteriosus, Atria... OMIM:606003
Primary Ciliary Dyskinesia
Situs inversus totalis, Transposition of the great arteries, Atelectasis, Pulmonary situs ambiguu... ORPHA:244
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Vesicoureteral reflux, Aortic valve stenosis, Renal hypoplasia, Mitral stenosis, Spinal dysraphis... OMIM:617660
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated circulating thyroid-stimulating hormone concentration, Decreased response to growth horm... OMIM:610978
Chronic Thromboembolic Pulmonary Hypertension
Congestive heart failure, Increased pulmonary vascular resistance, Right bundle branch block, Pul... ORPHA:70591
Achondrogenesis, Type Ii
Edema, Stillbirth, Polyhydramnios, Hydrops fetalis OMIM:200610
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Cryptorchidism, Ventricular septal defect, Dextrocardia OMIM:618067
Aorta Coarctation
Congestive heart failure, Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aor... ORPHA:1457
Eisenmenger Syndrome
Aortopulmonary window, Ascites, Left-to-right shunt, Abnormal heart morphology, Heart murmur, Rig... ORPHA:97214
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Neoplasm of the thyroid gland, Congestive heart failure, Ovarian neoplasm, Arteriovenous malforma... ORPHA:137608
Cat Eye Syndrome
Tricuspid atresia, Vesicoureteral reflux, Total anomalous pulmonary venous return, Pulmonic steno... OMIM:115470
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect, Recurrent viral upper respiratory tract infections OMIM:616898
Diamond-Blackfan Anemia
Hypospadias, Renal agenesis, Coarctation of aorta, Abnormal heart morphology, Nonimmune hydrops f... ORPHA:124
Encephalocraniocutaneous Lipomatosis
Pelvic kidney, Ventricular septal defect, Hydronephrosis, Atrial septal defect, Cryptorchidism, P... OMIM:613001
Nestor-Guillermo Progeria Syndrome
Left atrial enlargement, Decreased serum leptin, Sinus tachycardia, Hypertension, Right bundle br... OMIM:614008
Intellectual Disability-Strabismus Syndrome
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... ORPHA:363528
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Hydrops fetalis ORPHA:766
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hypertension, Renal c... ORPHA:189427
20Q13.33 Microdeletion Syndrome
Dilation of Virchow-Robin spaces, Hypospadias, Hypoplastic aortic arch, Abnormal cardiac ventricl... ORPHA:261311
Lymphedema-Distichiasis Syndrome
Abnormality of the pulmonary vasculature, Glomerulopathy, Predominantly lower limb lymphedema, Re... ORPHA:33001
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Ventricular septal defect, Hydronephrosis, Patent ductus arteriosus, Atrial septal defect, Crypto... ORPHA:457193
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect ORPHA:52056
Acrocardiofacial Syndrome
Hypospadias, Hypoplasia of penis, Truncus arteriosus, Ventricular septal defect, Coarctation of a... ORPHA:2008
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Atrial septal defect, Reduced left ventricular ejection fraction, Prema... OMIM:620247
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Atrial septal defect, Hypertension, Premature thelarche, Nodular goiter, T... ORPHA:371428
Intellectual Developmental Disorder, Autosomal Recessive 65
Hypospadias, Secundum atrial septal defect, Atrial septal defect, Cryptorchidism, Supernumerary n... OMIM:618109
Achondrogenesis, Type Ia
Stillbirth, Polyhydramnios, Hydrops fetalis, Increased nuchal translucency, Pulmonary hypoplasia,... OMIM:200600
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Polyhydramnios, Dilation of Virchow-Robin spaces, Hypospadias, Ventricular septal defect, Bilater... OMIM:300998
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm, Cryptorchidism, Atrial septal defect, Ventricular septal defect, Mitral reg... OMIM:301039
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Patent ductus arteriosus, Recurrent pneumonia, Umbilical hernia, Atrial septal defect, Ventricula... OMIM:619769
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Female external genitalia in individual with 46,XY karyotype, Abnormal female external genitalia ... ORPHA:90790
Heterotaxy, Visceral, 5, Autosomal
Ureteral duplication, Atrioventricular canal defect, Double inlet left ventricle, Atrial reentry ... OMIM:270100
Kapur-Toriello Syndrome
Ventricular septal defect, Micropenis, Patent ductus arteriosus, Atrial septal defect, Cryptorchi... OMIM:244300
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Bicuspid aortic valve, Atrial septal defect, Recurrent lower respiratory tract infections OMIM:617744
Noonan Syndrome 5
Polyhydramnios, Hypertrophic cardiomyopathy, Pulmonic stenosis, Arrhythmia, Atrial septal defect,... OMIM:611553
Ovarian Dysgenesis 10
Delayed puberty, Hypoplasia of the ovary, Elevated circulating follicle stimulating hormone level... OMIM:619834
Ovarian Dysgenesis 9
Delayed puberty, Decreased cirrculating antimullerian hormone circulation, Hypoplasia of the ovar... OMIM:619665
Pigmented Nodular Adrenocortical Disease, Primary, 4
Hypertension, Adrenal hyperplasia, Diabetes mellitus, Primary hypercortisolism, Increased circula... OMIM:615830
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Hypospadias, Ventricular septal defect, Precocious puberty, Hypothyroidism,... ORPHA:254346
Acth-Independent Macronodular Adrenal Hyperplasia 2
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hypertension, Increas... OMIM:615954
Proteus Syndrome
Venous malformation OMIM:176920
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Thickened nuchal skin fold, Renal agenesis, Increased urine alpha-ketoglutarate concentration, Pa... OMIM:220500
Developmental And Epileptic Encephalopathy 18
Atrial septal defect, Polyhydramnios, Oligohydramnios, Aortic regurgitation OMIM:615476
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Abnormal renal morphology, Patent foramen ... OMIM:609053
46,Xx Gonadal Dysgenesis
Delayed puberty, Gonadal dysgenesis, Aplasia/hypoplasia of the uterus, Pulmonary fibrosis, Decrea... ORPHA:243
Autoinflammatory Disease, Systemic, With Vasculitis
Small vessel vasculitis, Hydrops fetalis, Congenital hydrocele, Parotitis, Ascending tubular aort... OMIM:620376
Tetrasomy 15Q26
Hypoplastic aortic arch, Hydronephrosis, Patent ductus arteriosus, Atrial septal defect, Horsesho... OMIM:614846
Atelis Syndrome 1
Bronchiectasis, Atrial septal defect, Ventricular septal defect, Hypothyroidism OMIM:620184
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Proximal tubulopathy, Peau d'orange, Hyperechogenic kidneys, Patent du... OMIM:614576
Hypoplastic Left Heart Syndrome
Maternal diabetes, Patent ductus arteriosus, Hypoplastic aortic arch, Mitral stenosis, Mitral atr... ORPHA:2248
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Unilateral renal agenesis, Coronary artery fistula, Ventricular septal defect, Neonatal death, Pa... OMIM:620024
Gitelman Syndrome
Delayed puberty, Urinary incontinence, Prolonged QT interval, Neoplasm of the pancreas, Prominent... ORPHA:358
Von Willebrand Disease
Gastrointestinal hemorrhage, Muscle hemorrhage, Venous insufficiency, Abnormal mitral valve morph... ORPHA:903
Premature Ovarian Failure 10
Azoospermia, Hypoplasia of the ovary, Decreased testicular size, Hypothyroidism, Elevated circula... OMIM:612885
Cystic Echinococcosis
Abnormal subpleural morphology, Abnormality of the testis size, Renal cyst, Abnormal heart morpho... ORPHA:400
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Corneal neovascularization, Abnormal aortic arch morphology, Hyperte... ORPHA:567
Familial Multiple Nevi Flammei
Arteriovenous malformation, Venous insufficiency, Intracranial hemorrhage, Arrhythmia, Edema, Pul... ORPHA:624
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Patent foramen ovale, Tricuspid regurgitation, Increased nuchal translucency, Patent ductus arter... OMIM:618870
Hemihyperplasia-Multiple Lipomatosis Syndrome
Enlarged kidney, Telangiectasia of the skin, Abnormal venous morphology, Abnormal cerebral vascul... ORPHA:276280
Ovarian Dysgenesis 2
Delayed puberty, Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:300510
Ellis Van Creveld Syndrome
Epispadias, Abnormality of the kidney, Situs inversus totalis, Renal hypoplasia/aplasia, Hydroure... ORPHA:289
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614262
Burn-Mckeown Syndrome
Renal hypoplasia, Atrial septal defect, Ventricular septal defect, Unilateral renal agenesis OMIM:608572
Osteogenesis Imperfecta, Type Ii
Pulmonary insufficiency, Premature birth, Nonimmune hydrops fetalis, Congestive heart failure OMIM:166210
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral duplication, Polyhydramnios, Vesicoureteral reflux, Ureteral hypoplasia, Hydronephrosis,... OMIM:614080
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Internal hemorrhage, Decreased testicular size, Right ventricular hyper... ORPHA:335
Fetal Akinesia Deformation Sequence 1
Short umbilical cord, Stillbirth, Polyhydramnios, Small placenta, Increased nuchal translucency, ... OMIM:208150
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Unilateral renal atrophy, Oligozoospermia, Nephritis, Renal dysplasia, Varicose veins, Cryptorchi... OMIM:314300
Kagami-Ogata Syndrome
Polyhydramnios, Pulmonary arterial hypertension, Pulmonic stenosis, Premature birth, Pulmonary hy... OMIM:608149
8P11.2 Deletion Syndrome
Azoospermia, Hypoplasia of penis, Abnormality of the hypothalamus-pituitary axis, Hypogonadism, P... ORPHA:251066
Aortic Valve Disease 3
Aortic root aneurysm, Aortic valve stenosis, Ascending aortic dissection, Bicuspid aortic valve, ... OMIM:618496
Magel2-Related Prader-Willi-Like Syndrome
External genital hypoplasia, Premature pubarche, Small pituitary gland, Recurrent respiratory inf... ORPHA:398069
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Polyhydramnios, Recurrent lower respiratory tract infections, Hypothyroidism, Nephrocalcinosis, P... OMIM:618005
Bone Dysplasia, Lethal Holmgren Type
Atrial septal defect, Recurrent respiratory infections, Hypertrophic cardiomyopathy, Patent ductu... ORPHA:1842
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... OMIM:614129
Mucopolysaccharidosis-Plus Syndrome
Congestive heart failure, Enlarged kidney, Recurrent respiratory infections, Focal segmental glom... OMIM:617303
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Azoospermia, Testicular microlithiasis, Decreased circulating luteinizing hormon... OMIM:228300
Cutis Laxa, Autosomal Recessive, Type Ic
Multiple bladder diverticula, Breech presentation, Emphysema, Atelectasis, Vascular dilatation, P... OMIM:613177
Joubert Syndrome 3
Atrial septal defect, Stage 5 chronic kidney disease, Nephronophthisis OMIM:608629
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Patent foramen ovale, Hypertension, Ventricular septal defect, Nephrolithiasis, Pulmonary arteria... OMIM:615474
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Precocious puberty, Atrial septal defect OMIM:619356
Congenital Tracheomalacia
Pneumothorax, Pneumonia, Partial anomalous pulmonary venous return, Emphysema, Right aortic arch,... ORPHA:95430
Foix-Alajouanine Syndrome
Urinary incontinence, Cervical myelopathy, Venous malformation, Arteriovenous fistula, Neurogenic... ORPHA:79093
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Atrial septal defect, Hyperinsuli... OMIM:620211
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Hypertension, Prematur... ORPHA:90795
16P12.1P12.3 Triplication Syndrome
Decreased response to growth hormone stimulation test, Abnormal tricuspid valve morphology, Bilat... ORPHA:485405
Microcephaly-Capillary Malformation Syndrome
Patent foramen ovale, Vesicoureteral reflux, Right ventricular hypertrophy, Atrial septal defect,... OMIM:614261
Pearson Marrow-Pancreas Syndrome
Hydrops fetalis, Hypercalciuria, Dehydration, 3-Methylglutaric aciduria, Complex organic aciduria... OMIM:557000
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Fg Syndrome Type 1
Hypospadias, Small pituitary gland, Pulmonary arterial hypertension, Coarctation of aorta, Premat... ORPHA:93932
Short-Rib Thoracic Dysplasia 12
Polyhydramnios, Atelectasis, Anencephaly, Patent foramen ovale, Hypoplastic nipples, Ascites, Ren... OMIM:269860
Penile Agenesis
Atrial septal defect, Hydroureter, Bilateral lung agenesis, Maternal diabetes, Abnormality of the... ORPHA:49
H Syndrome
Delayed puberty, Abnormality of the kidney, Enlarged kidney, Abnormal cardiovascular system physi... ORPHA:168569
Congenital Heart Defects And Skeletal Malformations Syndrome
Hypospadias, Repeated pneumothoraces, Aortic root aneurysm, Ventricular septal defect, Coarctatio... OMIM:617602
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Pulmonary artery atresia, Secundum atrial septal defect, Tetralogy of Fallot... OMIM:108900
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Temple-Baraitser Syndrome
Pulmonic stenosis, Atrial septal defect OMIM:611816
Angioosteohypotrophic Syndrome
Edema, Venous malformation, Telangiectasia of the skin, Prominent superficial veins ORPHA:75508
Doors Syndrome
Polyhydramnios, Sirenomelia, Spina bifida occulta, Aspiration pneumonia, Thickened nuchal skin fo... ORPHA:79500
Fanconi Anemia
Abnormal carotid artery morphology, Renal hypoplasia/aplasia, Arteriovenous malformation, Abnorma... ORPHA:84
Histiocytoid Cardiomyopathy
Congestive heart failure, Pulmonary edema, Wolff-Parkinson-White syndrome, Atrial flutter, Cardio... ORPHA:137675
Premature Ovarian Failure 8
Ovarian neoplasm, Elevated circulating follicle stimulating hormone level, Elevated circulating l... OMIM:615723
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Partial anomalous pulmonary venous return, Patent ductus arteriosus, Dextrocardia, Ventricular se... OMIM:619657
Ehlers-Danlos Syndrome, Vascular Type
Repeated pneumothoraces, Cervical insufficiency, Descending aortic dissection, Mitral valve prola... OMIM:130050
Basel-Vanagaite-Smirin-Yosef Syndrome
Clitoral hypertrophy, Hypospadias, Pulmonary arterial hypertension, Hydronephrosis, Recurrent pne... OMIM:616449
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Aortic aneurysm, Abnormal renal morphology, Patent foramen ovale, Persistent left superior vena c... ORPHA:477817
Ciliary Dyskinesia, Primary, 52
Situs inversus totalis, Transposition of the great arteries, Recurrent lower respiratory tract in... OMIM:620570
Lujan-Fryns Syndrome
Atrial septal defect, Macroorchidism ORPHA:776
Genitopatellar Syndrome
Clitoral hypertrophy, Hydronephrosis, Pulmonary hypoplasia, Small scrotum, Atrial septal defect, ... ORPHA:85201
Premature Ovarian Failure 18
Decreased cirrculating antimullerian hormone circulation, Hypoplasia of the ovary, Elevated circu... OMIM:619203
Mosaic Variegated Aneuploidy Syndrome
Abnormal lung lobation, Polyhydramnios, Aortic regurgitation, Abnormal aortic morphology, Ascites... ORPHA:1052
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Congestive heart failure, Aortic regurgitation, Cardiomegaly, Tricuspid regurgitation, Premature ... OMIM:620066
Interatrial Communication
Congestive heart failure, Atrial septal defect, Atrial flutter, Sinus venosus atrial septal defec... ORPHA:1478
Satoyoshi Syndrome
Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Abnormality of... ORPHA:3130
Snijders Blok-Campeau Syndrome
Pulmonic stenosis, Atrial septal defect, Perimembranous ventricular septal defect, Umbilical hernia OMIM:618205
Shashi-Pena Syndrome
Dilation of Virchow-Robin spaces, Unilateral renal agenesis, Mild fetal ventriculomegaly, Patent ... OMIM:617190
Tetraamelia Syndrome 1
Single umbilical artery, Absent external genitalia, Hypoplasia of the fallopian tube, Renal agene... OMIM:273395
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Perimembranous ventricular septal defect, Coarctation of aorta, Secundum atrial septal defect, Co... OMIM:600987
Tarp Syndrome
Subdural hemorrhage, Hydronephrosis, Tetralogy of Fallot, Neonatal death, Atrial septal defect, O... OMIM:311900
Hypomandibular Faciocranial Dysostosis
Polyhydramnios, Recurrent respiratory infections, Patent ductus arteriosus, Atrial septal defect,... ORPHA:1790
20P12.3 Microdeletion Syndrome
Atrial septal defect, Wolff-Parkinson-White syndrome ORPHA:261295
Potocki-Lupski Syndrome
Hypothyroidism, Abnormal renal morphology, Patent foramen ovale, Atrial septal defect OMIM:610883
Maternal Uniparental Disomy Of Chromosome 6
Clitoral hypertrophy, Congenital adrenal hyperplasia, Increased serum testosterone level, Hydroce... ORPHA:96181
Chromosome 9P Deletion Syndrome
Perimembranous ventricular septal defect, Hypospadias, Heart murmur, Patent ductus arteriosus, At... OMIM:158170
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Loeys-Dietz Syndrome 6
Dilatation of the cerebral artery, Arterial tortuosity, Vertebral artery aneurysm, Ventricular hy... OMIM:619656
Laubry-Pezzi Syndrome
Elevated pulmonary artery pressure, Congestive heart failure, Bicuspid aortic valve, Perimembrano... ORPHA:99094
Bardet-Biedl Syndrome
Hypoplasia of penis, Hypoplasia of the ovary, Abnormality of the endocrine system, Hypertension, ... ORPHA:110
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Pulmonary artery hypoplasia, Patent ductus arteriosus, Atrial septal d... OMIM:300963
Autoimmune Lymphoproliferative Syndrome
Thyroid carcinoma, Hydrops fetalis, Vasculitis, Thyroiditis, Thyroid adenoma, Pulmonary fibrosis,... ORPHA:3261
Familial Cutaneous Collagenoma
Angina pectoris, Congestive heart failure, Atrial septal defect, Cardiomyopathy ORPHA:53296
Kaposi Sarcoma
Abnormal lung morphology, Lymphedema, Venous insufficiency ORPHA:33276
Renal Nutcracker Syndrome
Hematuria, Orthostatic hypotension, Tachycardia, Renal artery stenosis, Vulval varicose vein, Mic... ORPHA:71273
Premature Ovarian Failure 5
Hypoplasia of the ovary, Streak ovary OMIM:611548
Recombinant 8 Syndrome
Abnormality of the kidney, Hypoplastic male external genitalia, Ventricular septal defect, Pulmon... ORPHA:96167
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Reduced circulating... ORPHA:2235
Cardiofaciocutaneous Syndrome 3
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Hypertrophic cardiomyopathy OMIM:615279
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Chromosome 6Pter-P24 Deletion Syndrome
Patent foramen ovale, Umbilical hernia, Tetralogy of Fallot, Patent ductus arteriosus, Atrial sep... OMIM:612582
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Coarctation of aorta, Abnormal heart morphology, Tetralo... ORPHA:261183
Premature Ovarian Failure 21
Decreased serum estradiol, Streak ovary, Elevated circulating follicle stimulating hormone level,... OMIM:620311
Wolcott-Rallison Syndrome
Dehydration, Ascites, Central hypothyroidism, Hypothyroidism, Chronic kidney disease, Double outl... ORPHA:1667
Thanatophoric Dysplasia Type 1
Abnormality of the kidney, Polyhydramnios, Increased nuchal translucency, Patent ductus arteriosu... ORPHA:1860
Mogs-Cdg
Pulmonary edema, External genital hypoplasia, Polyhydramnios, Inappropriate antidiuretic hormone ... ORPHA:79330
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Pneumonia, Prolonged QT interval, Patent foramen ovale, Ventricular fibrill... ORPHA:26793
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect OMIM:113301
Frontoocular Syndrome
Pulmonic stenosis, Atrial septal defect OMIM:605321
White Forelock With Malformations
Atrial septal defect, Spina bifida occulta ORPHA:2475
Mosaic Variegated Aneuploidy Syndrome 1
Hypospadias, Multicystic kidney dysplasia, Bifid scrotum, Renal cyst, Pulmonic stenosis, Oligohyd... OMIM:257300
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Abnormal female external genitalia morphology, Vascular dilatation, Recurrent respiratory infecti... ORPHA:2637
Chromosome 1P36 Deletion Syndrome, Proximal
Atrial septal defect, Wolff-Parkinson-White syndrome, Partial anomalous pulmonary venous return, ... OMIM:619343
Specc1L-Related Hypertelorism Syndrome
Ectopic kidney, Ventricular septal defect, Female pseudohermaphroditism, Umbilical hernia, Arrhyt... ORPHA:1519
Rabson-Mendenhall Syndrome
Atrial septal defect, Clitoral hypertrophy, Increased serum testosterone level, Long penis, Fasti... ORPHA:769
Ovarian Hyperstimulation Syndrome
Pulmonary edema, Increased serum testosterone level, Capillary leak, Hemorrhagic ovarian cyst, Pl... ORPHA:64739
Perrault Syndrome 4
Hypoplasia of the ovary, Bicornuate uterus, Decreased serum estradiol, Increased circulating gona... OMIM:615300
Chromosome 10Q26 Deletion Syndrome
Vesicoureteral reflux, Patent ductus arteriosus, Small scrotum, Atrial septal defect, Cryptorchid... OMIM:609625
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Congestive heart failure, Enlarged kidney, Recurrent respiratory infections, Heavy proteinuria, P... ORPHA:505248
Noonan Syndrome 13
Duplicated collecting system, Lymphedema, Mitral valve prolapse, Atrial septal defect, Cryptorchi... OMIM:619087
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Atrial septal defect, Right atrial enlargement OMIM:615219
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Abnormal cerebral vascular morphology, Pulmonary embolism, Venous insufficiency ORPHA:745
Premature Ovarian Failure 6
Streak ovary, Elevated circulating follicle stimulating hormone level, Elevated circulating lutei... OMIM:612310
Atrial Septal Defect 1
Atrial septal dilatation, Persistent left superior vena cava, Aortic valve stenosis, Tetralogy of... OMIM:108800
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Interrupted aortic arch, Ventricular septal defect, Hydronephrosis, Heart murmur, In... ORPHA:163979
Enlarged Parietal Foramina
Occipital encephalocele, Abnormal cerebral vein morphology, Venous malformation, Myelomeningocele ORPHA:60015
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Ovotestis, Histiocytoid cardiomyopat... OMIM:309801
Koolen-De Vries Syndrom