Gene Summary

Name:
cilia and flagella associated protein 53
Synonyms:
4933415I03Rik,  Ccdc11

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased grip strength Cfap53em1(IMPC)Wtsi HET   Early adult 7.13×10-05
preweaning lethality, incomplete penetrance Cfap53em1(IMPC)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Whole Body Dorso Ventral

15 Images

X-ray

XRay Images Forepaw

15 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

Anti-nuclear antibody assay

Images

6 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

DSS Histology

Images

8 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Ear epidermis immunophenotyping

Images

12 Images

Legacy Phenotype Associated Images

View all 72 images

Human diseases caused by Cfap53 mutations

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

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

The table below shows human diseases associated to Cfap53 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Heterotaxy, Visceral, 6, Autosomal
Total anomalous pulmonary venous return, Unbalanced atrioventricular canal defect, Dextrocardia, ... OMIM:614779

The table below shows human diseases predicted to be associated to Cfap53 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Spermatogenic Failure 54
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... OMIM:619379
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... OMIM:618664
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Macrocephalic sperm head, Absent sperm f... OMIM:619177
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... OMIM:618643
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:619102
Spermatogenic Failure 58
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... OMIM:619585
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligospermia, Male infertility, Reduc... ORPHA:529970
Spermatogenic Failure 41
Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:618670
Spermatogenic Failure 35
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617592
Partial Chromosome Y Deletion
Cryptorchidism, Abnormal spermatogenesis, Non-obstructive azoospermia, Oligospermia, Male inferti... ORPHA:1646
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Dextrocardia, Double outlet right ventricle, Hypoplastic left hear... OMIM:619702
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 48
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619108
Spermatogenic Failure 64
Oligospermia, Abnormal sperm head morphology, Male infertility, Reduced progressive sperm motility OMIM:619696
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Spermatogenic Failure 63
Oligospermia, Decreased testicular size, Male infertility, Reduced progressive sperm motility OMIM:619689
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 42
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... OMIM:618745
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Right Atrial Isomerism
Right atrial isomerism, Abnormal lung lobation, Tetralogy of Fallot, Complete atrioventricular ca... OMIM:208530
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Coiled sperm flagella, Reduce... OMIM:617959
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia, Unbalanced atrioventricular canal defect, Situs inversus totalis, Atrio... OMIM:618300
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Abnormal aortic valve cusp morphology, Third degree atrioventricular block, Dextrocar... ORPHA:216694
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Hypoplastic left heart, Mitral regurgitation, Anomalous pulmonary ... ORPHA:1330
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Abnormality of blood circulation, Ventricular septal defect, Hy... ORPHA:860
Spermatogenic Failure 62
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619672
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Heterotaxy, Visceral, 4, Autosomal
Complete atrioventricular canal defect, Total anomalous pulmonary venous return, Ectopia of the s... OMIM:613751
Heterotaxy, Visceral, 7, Autosomal
Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Abnormal tricuspid valve mo... OMIM:616749
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testicular size OMIM:619145
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Isochromosomy Yp
Azoospermia, Ambiguous genitalia, Male infertility, Decreased testicular size ORPHA:98797
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Exocrine pancreatic insufficiency, Hypoplasia of right ventricle, Ventricular septal defect, Inte... ORPHA:2255
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Dextrocardia, Male infertility, Situs inversus totalis OMIM:618948
Heterotaxy, Visceral, 6, Autosomal
Total anomalous pulmonary venous return, Unbalanced atrioventricular canal defect, Dextrocardia, ... OMIM:614779
Meacham Syndrome
Accessory spleen, Dextrocardia, Male pseudohermaphroditism, Hypoplastic left heart, Ventricular s... OMIM:608978
Heart Defects, Congenital, And Other Congenital Anomalies
Truncus arteriosus, Tetralogy of Fallot, Absent gallbladder, Patent foramen ovale, Patent ductus ... OMIM:600001
Heterotaxy, Visceral, 1, X-Linked
Bilateral trilobed lungs, Total anomalous pulmonary venous return, Dextrocardia, Double outlet ri... OMIM:306955
Isochromosomy Yq
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicocele, Azoospermia, ... ORPHA:98798
Bardet-Biedl Syndrome 8
Situs inversus totalis, Obesity, Hypospadias, Hypogonadism OMIM:615985
Heterotaxy, Visceral, 5, Autosomal
Right atrial isomerism, Bilateral trilobed lungs, Total anomalous pulmonary venous return, Patent... OMIM:270100
Meacham Syndrome
Conotruncal defect, Cryptorchidism, Vaginal atresia, Hypoplastic left heart, Ventricular septal d... ORPHA:3097
Ciliary Dyskinesia, Primary, 36, X-Linked
Infertility, Situs inversus totalis OMIM:300991
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal sperm morphology, Non-obstructive azoospermia, Abnormal ... ORPHA:399808
Scimitar Syndrome
Pulmonary artery hypoplasia, Tricuspid atresia, Left-to-right shunt, Dextrocardia, Double outlet ... ORPHA:185
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 4
Azoospermia OMIM:270960
Ciliary Dyskinesia, Primary, 13
Absent outer dynein arms, Infertility, Absent inner dynein arms, Situs inversus totalis OMIM:613193
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Patent ductus arteriosus, Isomerism, Left superior vena cava draining directly to the left atrium... OMIM:619657
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Primary Ciliary Dyskinesia
Respiratory tract infection, Double outlet right ventricle, Situs inversus totalis, Bronchiectasi... ORPHA:244
Renal-Hepatic-Pancreatic Dysplasia 2
Cystic renal dysplasia, Cholestasis, Hypertrophic cardiomyopathy, Hepatomegaly, Pulmonic stenosis... OMIM:615415
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Immotile sperm, Male infertility, Situs inversus totalis OMIM:614874
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Atrial septal defect, Tetralogy of Fallot, Situs inversus totalis OMIM:601322
Ciliary Dyskinesia, Primary, 38
Infertility, Absent inner and outer dynein arms, Situs inversus totalis, Dextrocardia OMIM:618063
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Heterotaxy, Situs inversus totalis, M... OMIM:613807
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Aplasia/Hypoplasia of the lungs, Patent ductus arteriosus, Atrial septal defect, Abnormal aortic ... ORPHA:1120
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Ciliary Dyskinesia, Primary, 25
Infertility, Dextrocardia, Situs inversus totalis OMIM:615482
Spermatogenic Failure 6
Decreased acrosin in sperm head, Male infertility, Globozoospermia OMIM:102530
Dextrocardia
Webbed neck, T-wave inversion, Abnormal EKG, Pancreatic hypoplasia, Abnormal reproductive system ... ORPHA:1666
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility, Situs inversus totalis OMIM:612444
Nephronophthisis 16
Patent ductus arteriosus, Cholestasis, Hypertrophic cardiomyopathy, Situs inversus totalis, Pulmo... OMIM:615382
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Dextrocardia, Abdominal situs inversus, Male infertility, Situs inversus totalis OMIM:619607
Morbid Obesity And Spermatogenic Failure
Azoospermia, Oligospermia, Infertility, Obesity OMIM:615703
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomalous pulmonary venous ret... OMIM:613854
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Patent ductus arteriosus, Atrial septal defect, First degree atri... ORPHA:392
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Precocious puberty, Macroorchidism, Male infertility ORPHA:3000
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Situs inversus totalis, Reduced sperm motility OMIM:615500
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 22
Azoospermia, Infertility OMIM:617706
Cardiac Diverticulum
Pulmonary artery hypoplasia, Premature ventricular contraction, Tricuspid atresia, Dextrocardia, ... ORPHA:1686
Meckel Syndrome, Type 7
Biliary cirrhosis, Portal hypertension, Hepatosplenomegaly, Patent ductus arteriosus, Cholestasis... OMIM:267010
Pagod Syndrome
Pulmonary artery hypoplasia, Abnormal morphology of female internal genitalia, Abnormality of the... ORPHA:991
Ciliary Dyskinesia, Primary, 37
Infertility, Dextrocardia, Situs inversus totalis OMIM:617577
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Right ventricular dilatation, Atrial flutter, Systolic heart murmur... ORPHA:99105
Structural Heart Defects And Renal Anomalies Syndrome
Webbed neck, Tetralogy of Fallot, Renal cyst, Systolic heart murmur, Tricuspid atresia, Atrial se... OMIM:617478
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Dysplastic tricuspid valve, Hypoplastic left heart, Ventricular septal defect, Atrioventricular c... OMIM:265380
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Arrhythmia, Cryptorchidism, Atrial septal defect, Situs inversus totalis, C... OMIM:249270
Ciliary Dyskinesia, Primary, 2
Infertility, Absent inner and outer dynein arms, Situs inversus totalis, Dextrocardia OMIM:606763
Ciliary Dyskinesia, Primary, 22
Infertility, Dextrocardia, Situs inversus totalis, Absent inner and outer dynein arms, Reduced sp... OMIM:615444
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm, Situs in... OMIM:613808
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Obstructive azoospermia, Decr... ORPHA:399805
Congenital Gerbode Defect
Right atrial enlargement, Left-to-right shunt, Pedal edema, Ventricular septal defect, Holosystol... ORPHA:99095
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Obesity, Hydrocephalus, Hypergonadotropic hypogonadism, Mitral valve prolapse ORPHA:2183
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Ciliary Dyskinesia, Primary, 19
Absent inner and outer dynein arms, Male infertility, Situs inversus totalis OMIM:614935
Ciliary Dyskinesia, Primary, 20
Absent outer dynein arms, Dextrocardia, Situs inversus totalis OMIM:615067
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:261529
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Dextrocardia, Situs inversus totalis, Spina bifida occulta, Unilateral vertebra... OMIM:613686
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Male hypogonadism OMIM:241000
Marfanoid Habitus With Situs Inversus
Aortic regurgitation, Aortic root aneurysm, Pulmonic stenosis, Situs inversus totalis, Mitral val... OMIM:609008
15Q11.2 Microdeletion Syndrome
Tetralogy of Fallot, Total anomalous pulmonary venous return, Atrial septal defect, Coarctation o... ORPHA:261183
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Systolic heart murmur, Pat... ORPHA:555874
Ciliary Dyskinesia, Primary, 16
Absent outer dynein arms, Situs inversus totalis OMIM:614017
Autosomal Recessive Spondylocostal Dysostosis
Cryptorchidism, Abnormal morphology of female internal genitalia, Inguinal hernia, Spina bifida o... ORPHA:2311
Aminopterin/Methotrexate Embryofetopathy
Tetralogy of Fallot, Anencephaly, Situs inversus totalis, Spinal dysraphism, Pulmonary artery atr... ORPHA:1908
Ciliary Dyskinesia, Primary, 10
Abnormal respiratory motile cilium morphology, Situs inversus totalis OMIM:612518
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Hydrocephalus OMIM:209970
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Abnormality of male internal genitalia, Male infertility OMIM:261550
Isolated Follicle Stimulating Hormone Deficiency
Abnormal sperm morphology, Hypogonadotropic hypogonadism, Primary amenorrhea, Female hypogonadism... ORPHA:52901
Biliary, Renal, Neurologic, And Skeletal Syndrome
Biliary cirrhosis, Cardiac arrest, Cholestasis, Bile duct proliferation, Left-to-right shunt, Dex... OMIM:619534
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Elevated circulating alanine aminotransferase concentration, Left superior vena cava draining dir... OMIM:613759
Cardiac-Urogenital Syndrome
Aplasia of the uterus, Tetralogy of Fallot, Patent ductus arteriosus, Accessory spleen, Hepatopul... OMIM:618280
Ciliary Dyskinesia, Primary, 17
Abnormal respiratory motile cilium morphology, Dextrocardia, Situs inversus totalis OMIM:614679
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Hardikar Syndrome
Hepatic failure, Cholestasis, Cholangitis, Bile duct proliferation, Hypertension, Hematemesis, Ve... OMIM:301068
Microphthalmia, Syndromic 9
Hypoplastic spleen, Agenesis of pulmonary vessels, Tetralogy of Fallot, Hypoplasia of the uterus,... OMIM:601186
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Primum atrial septal defect, Partial atrioventricular canal defect, Situs inversus totalis, Reduc... OMIM:619608
Ciliary Dyskinesia, Primary, 28
Dynein arm defect of respiratory motile cilia, Situs inversus totalis OMIM:615505
Cardioacrofacial Dysplasia 2
Left superior vena cava draining to coronary sinus, Common atrium, Atrioventricular canal defect OMIM:619143
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Perimembranous ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Micrope... ORPHA:363444
Long Qt Syndrome 16
Second degree atrioventricular block, Bradycardia, T-wave alternans, Patent ductus arteriosus aft... OMIM:618782
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary arterial hypertension, Mediastinal lymphadenopathy, Pulmonary capillary hemangiomatosis... OMIM:234810
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Aorta Coarctation
Perimembranous ventricular septal defect, Tetralogy of Fallot, Cardiomegaly, Patent ductus arteri... ORPHA:1457
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia ORPHA:48
Ciliary Dyskinesia, Primary, 5
Situs inversus totalis, Reduced sperm motility OMIM:608647
Extracranial Carotid Artery Aneurysm
Total anomalous pulmonary venous return, Arteriosclerosis, Arteritis, Atherosclerosis, Vasculitis... ORPHA:494424
Ciliary Dyskinesia, Primary, 30
Absent outer dynein arms, Dextrocardia, Situs inversus totalis OMIM:616037
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Transaldolase Deficiency
Abnormality of the clitoris, Hepatosplenomegaly, Atrial septal defect, Hydrops fetalis, Biventric... ORPHA:101028
Atrial Septal Defect, Coronary Sinus Type
Right atrial enlargement, Right ventricular dilatation, Pneumonia, Systolic heart murmur, Arrhyth... ORPHA:99104
Chromosome 1P36 Deletion Syndrome, Proximal
Complete atrioventricular canal defect, Dilated cardiomyopathy, Patent foramen ovale, Patent duct... OMIM:619343
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Elevated jugular venous pressure, Abnormally loud pulmonic component of the second heart sound, P... OMIM:265450
Hydrocephaly-Low Insertion Umbilicus Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmonary venous return ORPHA:2184
Klippel-Trénaunay Syndrome
Microcytic anemia, Gastrointestinal hemorrhage, Patent ductus arteriosus, Congestive heart failur... ORPHA:90308
Heterotaxy, Visceral, 2, Autosomal
Mesocardia, Atrioventricular canal defect, Dextrocardia, Double outlet right ventricle, Situs inv... OMIM:605376
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pulmonic stenosis, Synophrys, Transposition of the great arteries, Spina bifida occulta, Perimemb... OMIM:617877
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Absent outer dynein arms, Male infertility, Situs inversus totalis OMIM:244400
Congenital Total Pulmonary Venous Return Anomaly
Mixed total anomalous pulmonary venous connection, Dextrocardia, Double outlet right ventricle, H... ORPHA:99125
Bardet-Biedl Syndrome 17
Micropenis, Obesity, Dextrocardia, Situs inversus totalis, Hypogonadism OMIM:615994
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk, White forelock, Poliosis OMIM:277740
Spinocerebellar Ataxia Type 32
Azoospermia, Male infertility, Testicular atrophy ORPHA:276183
Diamond-Blackfan Anemia 20
Anemia, Erythroid hypoplasia, Total anomalous pulmonary venous return OMIM:618313
Tricuspid Atresia
Patent foramen ovale, Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Hypoplasia o... ORPHA:1209
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm morphology, Infertility, Decreased testicular size, Abnormal sperm head morphology... ORPHA:320391
Cardiac Septal Defects With Coarctation Of The Aorta
Perimembranous ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta OMIM:212090
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Obesity, Hydrocephalus, Hypospadias, Hypogonadism ORPHA:141333
Congenital Tracheomalacia
Emphysema, Tetralogy of Fallot, Cardiomegaly, Recurrent upper respiratory tract infections, Pneum... ORPHA:95430
Cat Eye Syndrome
Abnormal heart morphology, Biliary atresia, Total anomalous pulmonary venous return OMIM:115470
Total Anomalous Pulmonary Venous Return 1
Pulmonary arterial hypertension, Recurrent respiratory infections, Total anomalous pulmonary veno... OMIM:106700
Pulmonary Capillary Hemangiomatosis
Pulmonary capillary hemangiomatosis, Abnormal pulmonary vein morphology, Diffuse alveolar hemorrh... ORPHA:199241
1Q21.1 Microduplication Syndrome
Tetralogy of Fallot, Cryptorchidism, Failure to thrive, Hydrocephalus, Hypospadias ORPHA:250994
Young Syndrome
Azoospermia OMIM:279000
Laterality Defects, Autosomal Dominant
Heterotaxy, Asplenia, Situs inversus totalis OMIM:601086
Desmosterolosis
Ambiguous genitalia, Splenomegaly, Patent ductus arteriosus, Anomalous pulmonary venous return ORPHA:35107
Adams-Oliver Syndrome 4
Atrial septal defect, Umbilical hernia, Ventricular septal defect, Patent ductus arteriosus OMIM:615297
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Systolic heart murmur, Patent foramen ovale, Congestive heart failure, ... ORPHA:439
Alg12-Cdg
Recurrent pneumonia, Patent foramen ovale, Patent ductus arteriosus, Cryptorchidism, Biventricula... ORPHA:79324
Mitochondrial Complex I Deficiency, Nuclear Type 36
Recurrent lower respiratory tract infections, Cardiomegaly, Optic disc pallor, Perimembranous ven... OMIM:619170
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Interstitial cardiac fibrosis, Left ventricular noncompaction, Ventricula... OMIM:613426
Monosomy 13Q34
Hematochezia, Hepatic steatosis, Pulmonic stenosis, Common atrium, Horizontal eyebrow, Epistaxis ORPHA:96168
Short Rib-Polydactyly Syndrome
Abnormality of the liver, Hypospadias, Situs inversus totalis, Polycystic kidney dysplasia, Abnor... ORPHA:1505
Hypoglossia With Situs Inversus
Polysplenia, Asplenia, Situs inversus totalis OMIM:612776
Double Outlet Right Ventricle
Tetralogy of Fallot, Heterotaxy, Double outlet right ventricle, Coarctation of aorta, Pulmonic st... ORPHA:3426
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Microvesicular hepatic steatosis, Perineal hypospadias, Normochromic micr... ORPHA:66634
Ciliary Dyskinesia, Primary, 3
Recurrent respiratory infections, Recurrent sinusitis, Situs inversus totalis, Bronchiectasis OMIM:608644
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Double outlet right ventricle, Hypoplastic left heart, ... OMIM:617205
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation, Intestinal bleeding OMIM:600195
47,Xyy Syndrome
Varicocele, Cryptorchidism, Micropenis, Azoospermia, Oligospermia, Macroorchidism, Male infertili... ORPHA:8
Ciliary Dyskinesia, Primary, 23
Recurrent pneumonia, Chronic bronchitis, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:615451
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Webbed neck, Total anomalous pulmonary venous return, Patent ductus arteriosus, Sparse eyebrow, H... ORPHA:487796
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Dextrocardia, Situs inversus totalis, Bronchiectasis OMIM:611884
Diencephalic Syndrome
Decreased body weight, Long penis, Cachexia, Hydrocephalus ORPHA:1672
Congenital Pseudoarthrosis Of The Clavicle
Dextrocardia, Situs inversus totalis ORPHA:66630
Transaldolase Deficiency
Pancytopenia, Hepatosplenomegaly, Patent foramen ovale, Patent ductus arteriosus, Atrial septal d... OMIM:606003
Laubry-Pezzi Syndrome
Perimembranous ventricular septal defect, Aortic regurgitation, Patent ductus arteriosus, Congest... ORPHA:99094
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Holoprosencephaly, Hypoplasia of penis, Situs inversus totalis ORPHA:990
Benign Schwannoma
Abnormality of the liver, Schwannoma, Abnormal cranial nerve morphology, Peripheral Schwannoma, A... ORPHA:252164
Nephronophthisis 14
Situs inversus totalis, Polycystic kidney dysplasia OMIM:614844
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Dextrocardia, Situs inversus totalis, Polycystic kidney dysplasia, Hypertension, Hepatic cysts OMIM:613095
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hepatic steatosis, Cholestasis, Atrial septal defect, Decreased liver function, Coarctation of ao... OMIM:614300
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Exocrine pancreatic insufficiency, Perimembranous ventricular septal defect, Tetralogy of Fallot,... ORPHA:508498
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Dilated cardiomyopathy, Interstitial cardiac fibrosis, Reduced ejection... OMIM:619371
Spinocerebellar Ataxia 32
Azoospermia, Infertility, Testicular atrophy OMIM:613909
Adrenal Hypoplasia, Congenital
Hypogonadotropic hypogonadism, Cryptorchidism, Azoospermia, Oligospermia, Failure to thrive, Prec... OMIM:300200
Ciliary Dyskinesia, Primary, 27
Chronic bronchitis, Situs inversus totalis, Bronchiectasis, Recurrent respiratory infections, Rec... OMIM:615504
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Aortic Arch Interruption
Right bundle branch block, Double outlet right ventricle, Pedal edema, Hypertension, Single ventr... ORPHA:2299
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect OMIM:614474
Mirror Movements 3
Situs inversus totalis OMIM:616059
Meckel Syndrome
Accessory spleen, Pancreatic cysts, Cryptorchidism, Anencephaly, True hermaphroditism, Situs inve... ORPHA:564
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Abnormal heart morphology, Recurrent respiratory infections OMIM:617744
Oligomeganephronia
Branchial cyst, Pulmonary venous occlusion, Hypertension, Secundum atrial septal defect, Dehydrat... ORPHA:2260
Tetraamelia Syndrome 2
Micropenis, Ventricular septal defect, Hypoplastic pulmonary veins OMIM:618021
Sandestig-Stefanova Syndrome
Muscular ventricular septal defect, Highly arched eyebrow, Sparse medial eyebrow, Laterally exten... OMIM:618804
Functioning Gonadotropic Adenoma
Infertility, Decreased female libido, Amenorrhea, Ovarian cyst, Enlarged polycystic ovaries, Olig... ORPHA:91348
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Johanson-Blizzard Syndrome
Exocrine pancreatic insufficiency, Hepatic failure, Cholestasis, Cryptorchidism, Ventricular sept... OMIM:243800
Nephronophthisis 2
Renal cortical microcysts, Pulmonary insufficiency, Situs inversus totalis, Hypertension, Oligohy... OMIM:602088
Congenital Rubella Syndrome
Patent ductus arteriosus, Atrial septal defect, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Abn... ORPHA:290
Alexander Disease
Increased CSF protein, Hydrocephalus OMIM:203450
Fadd-Related Immunodeficiency
Hepatic fibrosis, Decreased liver function, Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Mesoaxial Hexadactyly And Cardiac Malformation
Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, External genital hypoplasia, V... OMIM:249670
Linear Skin Defects With Multiple Congenital Anomalies 2
Tetralogy of Fallot, Atrial septal defect, Highly arched eyebrow, Pulmonary arterial hypertension... OMIM:300887
Atrial Septal Defect 2
Atrial septal defect, Ventricular septal defect, Atrioventricular canal defect OMIM:607941
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Hypogonadotropic hypogonadism, Infertility, Amenorrhea, Azoospermia, Card... OMIM:602390
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus, Hydrocephalus OMIM:258320
Ellis Van Creveld Syndrome
Emphysema, Abnormal heart valve morphology, Aplasia/Hypoplasia of the lungs, Abnormal hair morpho... ORPHA:289
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Primary amenorrhea, Micropenis, Cryptorchidism, Azoospermia, Decreased testicular size OMIM:614897
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Congenital Heart Defects, Multiple Types, 3
Tetralogy of Fallot, Atrial septal defect, Right bundle branch block, Abnormal heart morphology, ... OMIM:614954
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Desmosterolosis
Ambiguous genitalia, female, Ambiguous genitalia, male, Total anomalous pulmonary venous return, ... OMIM:602398
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligospermia OMIM:314300
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Cryptorchidism, Atrial septa... OMIM:618316
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Obesity, Hypogonadism, Hydrocephalus OMIM:601794
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Primary amenorrhea, Azoospermia, Hypogonadism, Decreased testicular size OMIM:229070
Myotonic Dystrophy 2
Oligospermia, Hypogonadism OMIM:602668
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Atrial flutter, Patent ductus arteriosus, Atrial septal defect, Hydrops fetalis... OMIM:601927
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Patent ductus arteriosus, Cryptorchidism, Atrial septal defect, Cor tria... OMIM:612541
Central Precocious Puberty
Obesity, Isosexual precocious puberty, Hydrocephalus, Premature thelarche, Increased body weight ORPHA:759
Pineocytoma
Increased CSF protein, Hydrocephalus ORPHA:251912
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Cholestasis, Cryptorchidism, Thick eyebrow, Double outlet right ventricle, Thoracic hypertrichosi... OMIM:619503
Diets-Jongmans Syndrome
Cryptorchidism, Heterotaxy, Interrupted inferior vena cava with azygous continuation, Inguinal he... OMIM:618846
Isotretinoin-Like Syndrome
Abnormal aortic arch morphology, Patent ductus arteriosus, Conotruncal defect, Abnormal cardiac a... ORPHA:2306
Joubert Syndrome
Situs inversus totalis, Encephalocele, Aganglionic megacolon, Highly arched eyebrow ORPHA:475
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatoblastoma, Total anomalous pulmonary venous return, Cryptorchidism, Pancreatic islet-cell hy... OMIM:312870
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Azoospermia, Cryptorchidism, Micropenis, Hypop... OMIM:614837
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Mungan Syndrome
Perimembranous ventricular septal defect, Tricuspid regurgitation, Abnormality of the autonomic n... OMIM:611376
Truncus Arteriosus
Single coronary artery origin, Pulmonary artery hypoplasia, Abnormal superior vena cava morpholog... ORPHA:3384
Coronary Arterial Fistula
Coronary artery aneurysm, Pedal edema, Cardiomegaly, Patent foramen ovale, Patent ductus arterios... ORPHA:2041
Proteus Syndrome
Hyperkeratosis, Venous malformation, Splenomegaly, Lymphangioma OMIM:176920
Agnathia-Otocephaly Complex
Pulmonary hypoplasia, Polyhydramnios, Secundum atrial septal defect, Situs inversus totalis OMIM:202650
Noonan Syndrome 8
Webbed neck, Patent ductus arteriosus, Cryptorchidism, Atrial septal defect, Hypertrophic cardiom... OMIM:615355
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Situs inversus totalis OMIM:615434
Hadziselimovic Syndrome
Tetralogy of Fallot, Atrial septal defect, Low anterior hairline, Pulmonary artery atresia, Ventr... OMIM:612946
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Cryptorchidism, Micropenis, Shawl scrotum, HbH hemoglobin, Ventricular septal defect, Perimembran... OMIM:301040
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Atrial fibrillation, Cardiomegaly, Holosystolic murmur, Arrhythmia, Com... ORPHA:1677
Ciliary Dyskinesia, Primary, 35
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis OMIM:617092
Partial Deletion Of The Short Arm Of Chromosome 7
Abnormality of the frontal hairline, Thick eyebrow, Partial anomalous pulmonary venous return, Bi... ORPHA:261911
Kaposi Sarcoma
Abnormality of the liver, Generalized lymphadenopathy, Venous insufficiency, Lymphedema, Abnormal... ORPHA:33276
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Atrial septal defect, Coarctation of aorta, Ventricular septal defect, Trans... ORPHA:261243
Ellis-Van Creveld Syndrome
Cryptorchidism, Atrial septal defect, Epispadias, Hypospadias, Common atrium OMIM:225500
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Li-Campeau Syndrome
Patent foramen ovale, Patent ductus arteriosus, Cryptorchidism, Thick eyebrow, Atrial septal defe... OMIM:619189
Lymphatic Malformation 6
Chylothorax, Intestinal lymphangiectasia, Webbed neck, Atrial septal defect, Hydrocele testis, No... OMIM:616843
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Cholestasis, Patent ductus arteriosus, Atrial septal defect, Splenomegaly, Hepatome... OMIM:614576
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Carpenter Syndrome 2
Webbed neck, Patent ductus arteriosus, Cryptorchidism, Atrial septal defect, Supernumerary nipple... OMIM:614976
Lymphatic Malformation 7
Atrial septal defect, Nonimmune hydrops fetalis, Varicose veins, Anemia, Lymphedema, Pericardial ... OMIM:617300
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Dandy-Walker malformation, Hydrocephalus ORPHA:1538
Temple Syndrome
Small for gestational age, Cryptorchidism, Overweight, Truncal obesity, Hydrocephalus, Decreased ... OMIM:616222
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Webbed neck, Muscular ventricular septal defect, Hypertrichosis, Spina bifida occulta, Low poster... OMIM:619227
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Congenital, generalized hypertrichosis, Ventricular septal defect, H... ORPHA:363705
14Q24.1Q24.3 Microdeletion Syndrome
Cryptorchidism, Atrial septal defect, Abnormal heart morphology, Synophrys, Pulmonary artery atre... ORPHA:401935
Megabladder, Congenital
Patent ductus arteriosus, Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ve... OMIM:618719
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Coarctation of aorta, Hypoplastic left heart, Ventricular septal defect, Atr... OMIM:615779
Anemia, Hypochromic Microcytic, With Iron Overload 2
Azoospermia, Hypogonadism OMIM:615234
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Male infertility OMIM:618801
Arnold-Chiari Malformation Type I
Abnormality of the twelfth cranial nerve, Myelopathy, Cranial nerve compression, Abnormality of t... ORPHA:268882
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism, Hydrocephalus OMIM:300886
Prune Belly Syndrome
Tetralogy of Fallot, Aplasia/Hypoplasia of the lungs, Patent ductus arteriosus, Cryptorchidism, A... ORPHA:2970
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal mitral valve morphology, Abno... ORPHA:1354
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Hydrocephalus OMIM:618709
Intellectual Developmental Disorder, Autosomal Dominant 21
Patent ductus arteriosus, Long eyelashes, Cryptorchidism, Atrial septal defect, Coarctation of aorta OMIM:615502
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Arrhythmia, Patent ductus arteriosus, Decreased liver function, Hypertensio... OMIM:617021
Diabetic Embryopathy
Tetralogy of Fallot, Abnormality of the pancreas, Cryptorchidism, Abnormal morphology of female i... ORPHA:1926
Mosaic Trisomy 9
Webbed neck, Abnormal heart valve morphology, Patent ductus arteriosus, Endocardial fibroelastosi... ORPHA:99776
Spermatogenic Failure 28
Azoospermia, Decreased testicular size OMIM:618086
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Tetralogy of Fallot, Patent ductus arteriosus, Frontal hirsutism, Cryptorchidis... ORPHA:3304
Halperin-Birk Syndrome
Long eyelashes, Inguinal hernia, Perimembranous ventricular septal defect, Umbilical hernia, Opti... OMIM:618651
Congenital Heart Defects, Multiple Types, 2
Tetralogy of Fallot, Myxomatous mitral valve degeneration, Aortic regurgitation, Subvalvular aort... OMIM:614980
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle,... OMIM:617912
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Total anomalous pulmonary venous return, Cryptorchidism, Atrial septal defect, Micropenis, Clitor... OMIM:609945
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Marden-Walker Syndrome
Hydrocephalus, Abnormal anatomic location of the heart, Abnormal penis morphology, Dextrocardia, ... ORPHA:2461
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Von Willebrand Disease
Venous insufficiency, Abnormal mitral valve morphology ORPHA:903
Peters Plus Syndrome
Webbed neck, Abnormal pulmonary vein morphology, Patent ductus arteriosus, Cryptorchidism, Clitor... ORPHA:709
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Patent ductus arteriosus, Atrial septal defect, Micropenis, Aganglionic megacolon, Abnormal auton... OMIM:613870
Edinburgh Malformation Syndrome
Failure to thrive, Hydrocephalus OMIM:129850
Absence Of The Pulmonary Artery
Pedal edema, Atrial fibrillation, Cardiomegaly, Pulmonary edema, Recurrent pneumonia, Patent fora... ORPHA:980
Spinal Muscular Atrophy, Type I
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect OMIM:253300
Familial Multiple Nevi Flammei
Abnormal cranial nerve morphology, Arrhythmia, Pulmonary embolism, Venous insufficiency, Arteriov... ORPHA:624
Kagami-Ogata Syndrome
Patent ductus arteriosus, Frontal hirsutism, Atrial septal defect, Splenomegaly, Hepatomegaly, Pu... OMIM:608149
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, Distichia... OMIM:126320
Recombinant Chromosome 8 Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Cryptorchidism, Atrial septal defect, Double outle... OMIM:179613
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Polycystic ovaries, Atrial septal defect, Coarctation of aorta, Double outlet right ventricle, Pa... ORPHA:371428
Histiocytosis-Lymphadenopathy Plus Syndrome
Histiocytosis, Ventricular septal defect, Cardiomegaly, Decreased response to growth hormone stim... OMIM:602782
Renpenning Syndrome
Heterotaxy, Hypospadias, Cachexia, Decreased testicular size ORPHA:3242
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Frontal encephalocele ORPHA:261102
Ventricular Septal Defect 3
Atrial septal defect, Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus OMIM:614432
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Male inf... OMIM:617091
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Patent foramen ovale, Atrial septal defect, Double outlet right ventricle, Decr... ORPHA:477817
Renpenning Syndrome 1
Tetralogy of Fallot, Brittle hair, Sparse lateral eyebrow, Atrial septal defect, Situs inversus t... OMIM:309500
Renal-Hepatic-Pancreatic Dysplasia 1
Biliary cirrhosis, Patent ductus arteriosus, Cholestasis, Bile duct proliferation, Pancreatic cys... OMIM:208540
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Aplasia/hypoplasia of the uterus, Bicornuate uterus ORPHA:2578
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Right aortic arch with mirror image branching, Pulmonary artery atresia, Atrioventr... OMIM:606217
Feingold Syndrome Type 1
Patent ductus arteriosus, Tricuspid atresia, Tricuspid stenosis, Multiple muscular ventricular se... ORPHA:391641
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Atrial septal defect, Partial anomalous pulmonary venous return, Highly arched eyebrow, Low anter... OMIM:301044
Cleft Palate, Cardiac Defects, And Mental Retardation
Atrial septal defect, Sparse eyebrow, Coarctation of aorta, Highly arched eyebrow, Laterally exte... OMIM:600987
Temple Syndrome
Small for gestational age, Cryptorchidism, Obesity, Precocious puberty, Hydrocephalus ORPHA:254516
Congenital Alveolar Capillary Dysplasia
Tetralogy of Fallot, Absent gallbladder, Patent ductus arteriosus, Atrial septal defect, Aganglio... ORPHA:210122
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cryptorchidism, Atrial septal defect, Coarctation of aorta, Pulmonary arterial hypertension, Anem... OMIM:614857
Genitopalatocardiac Syndrome
Renal cyst, Gonadal dysgenesis, male, Double outlet right ventricle, Right aortic arch, Ventricul... OMIM:231060
Noonan Syndrome 10
Webbed neck, Patent ductus arteriosus, Cryptorchidism, Atrial septal defect, Sparse eyebrow, Hype... OMIM:616564
Androgen Insensitivity, Partial
Infertility, Perineal hypospadias, Azoospermia, Cryptorchidism, Micropenis, Male pseudohermaphrod... OMIM:312300
Chudley-Mccullough Syndrome
Ventriculomegaly, Hydrocephalus OMIM:604213
Syndromic Diarrhea
Hepatoblastoma, Brittle hair, Woolly hair, Polycystic kidney dysplasia, Inguinal hernia, Ventricu... ORPHA:84064
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Hypertrophic cardiomyopathy, Papilledema, Ventricular septal defect, Alopecia tot... OMIM:618775
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Catel-Manzke Syndrome
Overriding aorta, Cryptorchidism, Dextrocardia, Coarctation of aorta, Inguinal hernia, Ventricula... OMIM:616145
Alagille Syndrome 2
Tetralogy of Fallot, Renal cyst, Cholestasis, Atrial septal defect, Peripheral pulmonary artery s... OMIM:610205
Trisomy 13
Patent ductus arteriosus, Cryptorchidism, Hydrops fetalis, Abnormal eyelash morphology, Atrial se... ORPHA:3378
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Hypoplastic left heart, Ventricular septal defect, Anomalous origin of left ... ORPHA:99050
Milroy Disease
Hydrocele testis, Abnormal venous morphology, Predominantly lower limb lymphedema, Hyperkeratosis... ORPHA:79452
Indomethacin Embryofetopathy
Atrial septal defect, Hydrops fetalis, Multicystic kidney dysplasia, Cardiomyopathy, Ventricular ... ORPHA:1909
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Atrial septal defect, Synophrys, Ventricular septal defect, Transposition of... ORPHA:1913
Noonan Syndrome 2
Leukemia, Patent ductus arteriosus, Cryptorchidism, Atrioventricular canal defect, Atrial septal ... OMIM:605275
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect, Highly arched eyebrow ORPHA:1388
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Micropenis, Abnormal sperm... OMIM:228300
Ritscher-Schinzel Syndrome 1
Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle, Pulmonic stenosis, Hypo... OMIM:220210
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Parakeratosis, Hyperkeratosis, Single ventricle, Alopecia, Umbilical hernia, Thyroid hypoplasia, ... OMIM:308050
Pituitary Dermoid And Epidermoid Cysts
Oligospermia, Amenorrhea, Hypogonadism, Oligomenorrhea ORPHA:91351
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Patent foramen ovale, Patent ductus arteriosus, Long eyelashes, Cryptorchidism, Atrial septal def... ORPHA:329224
Timothy Syndrome
Tetralogy of Fallot, Pneumonia, Patent foramen ovale, Patent ductus arteriosus, Prolonged QT inte... OMIM:601005
Band Heterotopia
Ventriculomegaly, Hydrocephalus OMIM:600348
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Brittle hair, Abnormality of the anterior pituitary, Coarse hair, Posterior pituitary hypoplasia,... ORPHA:75389
Lead Poisoning
Abnormal sperm morphology, Infertility, Decreased female libido, Small for gestational age, Misca... ORPHA:330015
Diamond-Blackfan Anemia 6
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Ventricular hypertrophy, Per... OMIM:612561
Bone Dysplasia, Lethal Holmgren Type
Patent ductus arteriosus, Atrial septal defect, Hypertrophic cardiomyopathy, Hepatomegaly, Anemia... ORPHA:1842
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, ... OMIM:618652
Premature Ovarian Failure 10
Primary amenorrhea, Azoospermia, Decreased testicular size, Premature ovarian insufficiency, Hypo... OMIM:612885
Mucopolysaccharidosis-Plus Syndrome
Coarse hair, Anemia, Thrombocytopenia, Recurrent pneumonia, Leukopenia, Patent ductus arteriosus,... OMIM:617303
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Testicular neoplasm, Aplasia/hy... ORPHA:754
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Axonal loss, Patent foramen ovale, Patent ductus arteriosus, Peripheral axonal neuropathy, Polyhy... OMIM:616867
Partial Androgen Insensitivity Syndrome
Male sexual dysfunction, Aplasia of the uterus, Perineal hypospadias, Primary amenorrhea, Azoospe... ORPHA:90797
Hydrocephalus, Autosomal Dominant
Dandy-Walker malformation, Hydrocephalus OMIM:123155
Fixed Subaortic Stenosis
Pulmonary venous hypertension, Ventricular septal defect, Atrioventricular canal defect, Mitral r... ORPHA:3092
Gjc2-Related Late-Onset Primary Lymphedema
Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedema, Abnormal lymphatic vessel m... ORPHA:568051
Pentalogy Of Cantrell
Tetralogy of Fallot, Absent gallbladder, Abnormal pericardium morphology, Atrial septal defect, A... ORPHA:1335
Methylmalonic Acidemia With Homocystinuria
Failure to thrive, Hydrocephalus ORPHA:26
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Recurrent pneumonia, Congestive heart failure, Abnormal venous morphology, Aortic dissection, Art... ORPHA:1900
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Coarse hair, Parakeratosis, Cryptorchidism, Micropenis, Pancreatic hypoplasia, He... ORPHA:83617
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Isomerism, Atrioventricular canal defect, Hydrocephalus, Transposition of the great arteries, Ure... OMIM:314390
Atrial Septal Defect, Ostium Primum Type
Right atrial enlargement, Right bundle branch block, Atrial fibrillation, Third heart sound, Mitr... ORPHA:99106
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Hiatus hernia, Recurrent pneumonia, Recurrent upper respiratory tract infections, Patent ductus a... OMIM:619769
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Dextrocardia, Double outlet right ventricle, Bronch... OMIM:618254
Surfactant Metabolism Dysfunction, Pulmonary, 1
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Pul... OMIM:265120
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism
Atrial septal defect, Inguinal hernia, Patent foramen ovale, Patent ductus arteriosus OMIM:601450
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Atrial septal defect, Patent foramen ovale ORPHA:89844
Pallister-Hall-Like Syndrome
Micropenis, Abnormal heart morphology, Occipital encephalocele, Hydrocephalus OMIM:241800
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Patent ductus arteriosus, Atrial septal defect, Pulmonary arterial hypertension, Hypertension, Bi... OMIM:613355
Mental Retardation, Buenos Aires Type
Atrial septal defect, Failure to thrive, Hypospadias, Hydrocephalus OMIM:249630
Hereditary Amyloidosis With Primary Renal Involvement
Primary testicular failure, Oligospermia, Male infertility, Abnormal testis morphology, Weight lo... ORPHA:85450
Isolated Cleft Lip
Umbilical hernia, Polyhydramnios, Situs inversus totalis ORPHA:199302
Autism Spectrum Disorder Due To Auts2 Deficiency
Cryptorchidism, Atrial septal defect, Highly arched eyebrow, Inguinal hernia, Abnormal heart morp... ORPHA:352490
Chromosome 18Q Deletion Syndrome
Absence of the pulmonary valve, Patent ductus arteriosus, Congestive heart failure, Cryptorchidis... OMIM:601808
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, Right atrial enlargement, T lymphocytopenia, Endocardial fibroelastosis, Noni... OMIM:619313
Carpenter Syndrome 1
Tetralogy of Fallot, Patent ductus arteriosus, Cryptorchidism, Atrial septal defect, Pulmonic ste... OMIM:201000
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Hepatic failure, Patent ductus arteriosus, Abnormality of the male genitalia, Atr... OMIM:614886
Seckel Syndrome 9
Pulmonary artery hypoplasia, Atrial septal defect, Recurrent respiratory infections, Polyhydramni... OMIM:616777
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Recurrent pneumonia, Patent foramen ovale, Patent ductus arteriosus, Cryptorchidism, Highly arche... ORPHA:500159
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:618974
Tatton-Brown-Rahman Syndrome
Patent ductus arteriosus, Aortic root aneurysm, Cryptorchidism, Thick eyebrow, Neuroendocrine neo... ORPHA:404443
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Patent ductus arteriosus OMIM:617044
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Hypoplastic female external genitalia OMIM:618577
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Congestive heart failure, Optic atrophy, Megaloblastic anemia, Atrial septal defe... ORPHA:49827
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Atrial septal defect, Lymphopenia OMIM:614868
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Premature graying of hair, Moyamoya phenomenon, Dilated cardiomyopathy, Abnormal left ventricle m... OMIM:300845
Hypertelorism And Tetralogy Of Fallot
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Tetralogy of Fallot with abs... OMIM:239711
Cirrhotic Cardiomyopathy
Right atrial enlargement, Third heart sound, Ascites, Cardiomegaly, Left ventricular hypertrophy,... ORPHA:57777
Grange Syndrome
Aortic regurgitation, Patent ductus arteriosus, Hypertension, Ventricular septal defect, Arterial... ORPHA:79094
Emanuel Syndrome
Patent ductus arteriosus, Cryptorchidism, Atrial septal defect, Micropenis, Pulmonic stenosis, In... OMIM:609029
Thanatophoric Dysplasia Type 2
Aplasia/Hypoplasia of the lungs, Patent ductus arteriosus, Atrial septal defect, Polyhydramnios, ... ORPHA:93274
Alagille Syndrome
Cholestasis, Cryptorchidism, Atrial septal defect, Hepatomegaly, Peripheral pulmonary artery sten... ORPHA:52
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Patent ductus arteriosus, Congestive heart failure, Left ventricu... OMIM:604169
Chromosome 14Q11-Q22 Deletion Syndrome
Patent foramen ovale, Patent ductus arteriosus, Cryptorchidism, Ventricular septal defect, Optic ... OMIM:613457
Transketolase Deficiency
Renal cyst, Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Abnormal corona... ORPHA:488618
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Low anterior hairline, Ventricular septal defect OMIM:608227
Suleiman-El-Hattab Syndrome
Webbed neck, Patent foramen ovale, Frontal hirsutism, Cryptorchidism, Thick eyebrow, Atrial septa... OMIM:618950
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Patent ductus arteriosus, Atrial septal defect, Micropenis, Highly arched eyebrow, Ventricular se... OMIM:618142
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Muscular ventricular septal defect, Low anterior hairline, Dry hair OMIM:618569
Eisenmenger Syndrome
Right-to-left shunt, Left-to-right shunt, Increased pulmonary vascular resistance, Right bundle b... ORPHA:97214
3C Syndrome
Tetralogy of Fallot, Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal mitral v... ORPHA:7
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Abnormality of the liver, Atrial septal defect, Hepatomegaly, ... ORPHA:1667
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Hydrops fetalis, Anemia, Polyhydramnios, Ventricular septal ... ORPHA:3405
Familial Isolated Restrictive Cardiomyopathy
Right atrial enlargement, Interstitial cardiac fibrosis, Peripheral edema, Abnormal left ventricu... ORPHA:75249
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Ventriculomegaly, Abnormal heart morphology, Hydrocephalus, Hypospadias OMIM:175700
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Lymphangioma, Congestive heart failure, Ovarian neoplasm, Venous insufficiency, Arteriovenous mal... ORPHA:137608
Developmental And Epileptic Encephalopathy 49
Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus OMIM:617281
Cardiofacioneurodevelopmental Syndrome
Cryptorchidism, Pulmonic stenosis, Abdominal situs inversus, Ventricular septal defect, Asplenia,... OMIM:619123
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Patent ductus arteriosus, Abnormal hair morphology, Atrial septal defect, Pulmonary arterial hype... OMIM:608406
Meige Disease
Cobblestone-like hyperkeratosis, Peripheral edema, Absence of lymph node germinal center, Pleural... ORPHA:90186
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Coarse hair, Cryptorchidism, Optic nerve hypoplasia, Right bundle branch block, Slow-growing hair... OMIM:617506
Mend Syndrome
Cryptorchidism, Aortic valve stenosis, Dandy-Walker malformation, Hydrocephalus OMIM:300960
Xk Aprosencephaly Syndrome
Atrial septal defect, Polyhydramnios, Ventricular septal defect, Abnormal external genitalia ORPHA:3469
Angioosteohypotrophic Syndrome
Telangiectasia of the skin, Venous malformation, Edema, Prominent superficial veins ORPHA:75508
Pseudotrisomy 13 Syndrome
Complete atrioventricular canal defect, Tricuspid atresia, Cryptorchidism, Atrial septal defect, ... OMIM:264480
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Micropenis, Occipital encephalocele, Anencephaly, Ventriculomegaly, Dandy-Walker malformation, Hy... OMIM:615287
8Q12 Microduplication Syndrome
Atrial septal defect, Abnormal cranial nerve morphology, Ventricular septal defect, Highly arched... ORPHA:228399
Lymphedema-Distichiasis Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Arrhythmia, Predominantly lower limb lymphedema, L... OMIM:153400
Generalized Glucocorticoid Resistance Syndrome
Infertility, Oligospermia, Precocious puberty, Female pseudohermaphroditism, Ambiguous genitalia,... ORPHA:786
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism, Hypertrophic cardiomyopathy, Pulmonic stenosis, Hydrocephalus ORPHA:2701
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Micropenis, Obesity, Hydrocephalus, Hypospadias ORPHA:171839
Noonan Syndrome 9
Webbed neck, Cryptorchidism, Sparse eyebrow, Coarctation of aorta, Pulmonic stenosis, Ventricular... OMIM:616559
X-Linked Intellectual Disability, Nascimento Type
Lumbar hypertrichosis, Cryptorchidism, Double outlet right ventricle, Mitral stenosis, Ventricula... ORPHA:163956
8p23.1 deletion syndrome
Cryptorchidism, Abnormal heart morphology, Atrial septal defect, Atrioventricular canal defect DECIPHER:39
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Primary amenorrhea, Female hypogonadism, Cryptorchidism, Azoosperm... ORPHA:432
Thanatophoric Dysplasia
Patent ductus arteriosus, Atrial septal defect, Polyhydramnios, Increased nuchal translucency, Pu... ORPHA:2655
Congenital Heart Defects And Skeletal Malformations Syndrome
Cryptorchidism, Atrial septal defect, Coarctation of aorta, Pneumothorax, Ventricular septal defe... OMIM:617602
Ritscher-Schinzel Syndrome 2
Patent ductus arteriosus, Cryptorchidism, Atrial septal defect, Ventricular septal defect, Low po... OMIM:300963
Trisomy 8P
Abnormal lung lobation, Tetralogy of Fallot, Recurrent upper respiratory tract infections, Abnorm... ORPHA:264450
46,Xy Partial Gonadal Dysgenesis
Primary amenorrhea, Cryptorchidism, Abnormal labia morphology, Male infertility, Abnormal sex det... ORPHA:251510
Deafness-Hypogonadism Syndrome
Abnormal spermatogenesis, Hypergonadotropic hypogonadism ORPHA:90646
Holoprosencephaly 5
Semilobar holoprosencephaly, Holoprosencephaly, Lobar holoprosencephaly, Syntelencephaly, Hydroce... OMIM:609637
Teebi Hypertelorism Syndrome 1
Widow's peak, Aortic root aneurysm, Atrial septal defect, Shawl scrotum, Highly arched eyebrow, O... OMIM:145420
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Hydrops fetalis, Omphalocele, Ventricular septal defect, Hypoplasia of the thym... OMIM:617022
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Tetralogy of Fallot, Subvalvular aortic stenosis, Atrial fibrillation, Pul... OMIM:108900
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Renal cyst, Absent eyelashes, Cryptorchidism, Absent eyebrow, Inguinal hernia, Abnormal vena cava... ORPHA:166035
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Ventriculomegaly, Ventricular septal defect, Hydrocephalus, Hypospadias OMIM:218350
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Oligospermia, Clitoral hypoplasia, Small for gestational age, Failure to thrive OMIM:614813
Optic Pathway Glioma
Precocious puberty, Hydrocephalus ORPHA:2086
Gapo Syndrome
Oligospermia, Hypogonadism, Amenorrhea, Dysmenorrhea ORPHA:2067
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Venous insufficiency, Pulmonary embolism, Thin skin ORPHA:745
Ventricular Septal Defect 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:614429
Spermatogenic Failure 15
Non-obstructive azoospermia OMIM:616950
Adams-Oliver Syndrome 5
Right atrial enlargement, Patent foramen ovale, Dystrophic toenail, Splenomegaly, Pulmonic stenos... OMIM:616028
Microgastria-Limb Reduction Defects Association
Absent gallbladder, Cystic renal dysplasia, Splenogonadal fusion, Cryptorchidism, Type I truncus ... OMIM:156810
Schuurs-Hoeijmakers Syndrome
Patent foramen ovale, Patent ductus arteriosus, Long eyelashes, Cryptorchidism, Highly arched eye... OMIM:615009
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Mitral regurgitation, Vascular ring, Atrial septal defect, Ventricular septal defect OMIM:603387
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Right atrial enlargement, Dilated cardiomyopathy, Myocardial fibrosis, Left ventricular noncompac... OMIM:619424
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Tetralogy of Fallot, Aplasia of the uterus, Hepatosplenomegaly, Leukocytosis, Pancr... OMIM:274000
Pseudo-Torch Syndrome 1
Patent foramen ovale, Patent ductus arteriosus, Decreased liver function, Splenomegaly, Jaundice,... OMIM:251290
X-Linked Lissencephaly With Abnormal Genitalia