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Gene: Cfap53 MGI:1921703

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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 Skull Dorso Ventral Orientation

14 Images

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DSS Histology

Images

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

15 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Forepaw

15 Images

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Anti-nuclear antibody assay

Images

6 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images
Cfap53em1(IMPC)Wtsi
HET, Male, WTSI
Cfap53em1(IMPC)Wtsi
HET, Male, WTSI
Cfap53em1(IMPC)Wtsi
HET, Male, WTSI
Cfap53em1(IMPC)Wtsi
HET, Male, WTSI
Cfap53em1(IMPC)Wtsi
HET, Male, WTSI

View all 72 images

Cfap53em1(IMPC)Wtsi
abnormal tail morphology, kinked tail, HET, Female, WTSI
Cfap53em1(IMPC)Wtsi
abnormal tail morphology, kinked tail, HET, Female, WTSI
Cfap53em1(IMPC)Wtsi
HOM, Male, WTSI
Cfap53em1(IMPC)Wtsi
abnormal retinal pigmentation, HET, Male, WTSI

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
Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Abdominal situs inversus,... 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
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Heterotaxy, Visceral, 12, Autosomal
Left Isomerism, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery... OMIM:619702
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Right Atrial Isomerism
Atrial septal defect, Right atrial isomerism, Inguinal hernia, Ventricular septal defect, Aortopu... OMIM:208530
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella, Situs inversus totalis OMIM:620197
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Heterotaxy, Abnormal tricuspid valve morphology, Bacterial endocarditis, A... ORPHA:1330
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypopl... OMIM:616749
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology... ORPHA:860
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Isochromosomy Yp
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size ORPHA:98797
Heterotaxy, Visceral, 1, X-Linked
Polyhydramnios, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arterie... OMIM:306955
Ciliary Dyskinesia, Primary, 40
Left Isomerism, Situs inversus totalis, Absent outer dynein arms, Azoospermia, Infertility, Atrio... OMIM:618300
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Biliary atresia, Aplasia/Hypoplasia of the gallbladder, Atrial septal defect, Pancreatic hypoplas... ORPHA:2255
Meacham Syndrome
Bicuspid aortic valve, Blind vagina, Atrial septal defect, Neonatal death, Scimitar anomaly, Cong... OMIM:608978
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Abdominal situs inversus,... OMIM:614779
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Atrial septal defect, Hypoplastic tricuspid valve, Double outlet left ventric... OMIM:600001
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Bilateral trilobed lung, Right atrial isomerism, Atrial septal defect... OMIM:270100
Scimitar Syndrome
Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ... ORPHA:185
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility, Situs inversus totalis OMIM:300991
Bardet-Biedl Syndrome 8
Hypogonadism, Hypospadias, Obesity, Situs inversus totalis OMIM:615985
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Dextrocardia, Situs inversus totalis OMIM:618948
Meacham Syndrome
Hypoplasia of penis, Abnormality of the spleen, Abnormal lung lobation, Conotruncal defect, Abnor... ORPHA:3097
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Globozoosp... ORPHA:399808
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Atrial situs ambiguous, Abnormal atrial arrangement, Peribron... ORPHA:244
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis, Cryptorchidism, Thiamine... OMIM:249270
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Thoracic aortic aneurysm, Ventricular septal defect, Dextrocardia, Asplenia, Patent ductus arteri... OMIM:619657
Ciliary Dyskinesia, Primary, 13
Situs inversus totalis, Absent outer dynein arms, Absent inner dynein arms, Infertility OMIM:613193
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent inner dynein arms, Situs inversus totalis, Absent outer dynein arms, Imm... OMIM:614874
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Cardiac Valvular Dysplasia 1
Edema, Arteria lusoria, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent f... OMIM:212093
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Ciliary Dyskinesia, Primary, 50
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... OMIM:620356
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Tricuspid regurgitation, Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Abnormal ... ORPHA:1120
Spermatogenic Failure 17
Male infertility OMIM:617214
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Situs inversus totalis, Abnormal axonemal organizatio... OMIM:613807
Dextrocardia
Abnormal EKG, Dextrocardia, Situs inversus totalis, Abnormality of the spleen, Abnormal reproduct... ORPHA:1666
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms, Situs inversus totalis OMIM:612444
Nephronophthisis 16
Situs inversus totalis, Patent ductus arteriosus, Cholestasis, Periportal fibrosis, Aortic valve ... OMIM:615382
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Situs inversus totalis, Abnorma... OMIM:615415
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P... ORPHA:392
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Dextrocardia, Infertility, Absent inner and outer dynein arms OMIM:618063
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... ORPHA:1686
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo... OMIM:115197
Ciliary Dyskinesia, Primary, 12
Situs inversus totalis, Reduced sperm motility, Immotile sperm, Abnormal central microtubular pai... OMIM:612650
Ciliary Dyskinesia, Primary, 26
Situs inversus totalis, Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... ORPHA:99105
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility, Abdominal situs inversus, Dextrocardia, Situs inversus totalis OMIM:619607
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Hepatomegaly, Portal hypertensi... OMIM:208540
Ciliary Dyskinesia, Primary, 32
Situs inversus totalis, Absent respiratory ciliary axoneme radial spokes, Infertility OMIM:616481
Ciliary Dyskinesia, Primary, 24
Situs inversus totalis, Infertility OMIM:615481
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Situs inversus totalis, Absent central microtubular pair morphology of respiratory motile cilia OMIM:620032
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Inguinal hernia, Portal hypertension, Pancreatic cysts, Situs inver... OMIM:267010
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Partial anomalous pulmonary venous return, Renal cyst, Right aortic ar... OMIM:617478
Pagod Syndrome
Abnormality of the spleen, Pulmonary artery hypoplasia, Abnormality of the uterus, Abnormality of... ORPHA:991
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Edema, Cryptorchidism, Patent ductus arteriosus, Thrombocytopenia, Cholestasis, Per... OMIM:608104
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Polyhydramnios, Parachute mitral valve, Asplenia, Abnormal lung lobation, ... OMIM:265380
Morbid Obesity And Spermatogenic Failure
Azoospermia, Obesity, Infertility, Oligozoospermia OMIM:615703
Cardiac-Urogenital Syndrome
Bifid scrotum, Patent urachus, Atrial septal defect, Scimitar anomaly, Micropenis, Mesocardia, Pe... OMIM:618280
Congenital Gerbode Defect
Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpho... ORPHA:99095
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
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, 2
Situs inversus totalis, Dextrocardia, Infertility, Absent inner and outer dynein arms OMIM:606763
Marfanoid Habitus With Situs Inversus
Aortic regurgitation, Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmon... OMIM:609008
Chops Syndrome
Curly hair, Ventricular septal defect, Thick hair, Splenomegaly, Patent ductus arteriosus, Crypto... OMIM:616368
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Situs inversus totalis, Bronchiectasis, Right aortic arch, Goiter OMIM:617577
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Dextrocardia, Dynein arm defect of respiratory motile cilia OMIM:614679
1Q21.1 Microduplication Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Tetralogy of Fallot, Failure to thrive ORPHA:250994
Ciliary Dyskinesia, Primary, 22
Dextrocardia, Situs inversus totalis, Absent inner and outer dynein arms, Infertility, Reduced sp... OMIM:615444
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Ciliary Dyskinesia, Primary, 15
Situs inversus totalis, Abnormal axonemal organization of respiratory motile cilia, Infertility, ... OMIM:613808
Ciliary Dyskinesia, Primary, 19
Male infertility, Situs inversus totalis, Absent inner and outer dynein arms OMIM:614935
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... ORPHA:261183
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... ORPHA:555874
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Asplenia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomer... OMIM:605376
Ciliary Dyskinesia, Primary, 16
Situs inversus totalis, Absent outer dynein arms OMIM:614017
Aorta Coarctation
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Pa... ORPHA:1457
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis, Abnormal respiratory motile cilium morphology OMIM:612518
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Hydrocephalus OMIM:209970
Autosomal Recessive Spondylocostal Dysostosis
Inguinal hernia, Hypospadias, Cryptorchidism, Meningocele, Abnormal morphology of female internal... ORPHA:2311
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Situs inversus totalis, Meningocele, Anencephaly, Spina... ORPHA:1908
Ciliary Dyskinesia, Primary, 25
Situs inversus totalis, Dextrocardia, Infertility OMIM:615482
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Pulmonary venous occlusion, Pulmonary arterial hypertension,... OMIM:234810
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... OMIM:301068
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Howell-Jolly bodies, Portal inflammation, Elevated circulating alanine... OMIM:613759
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Laterally extended eyebrow, Ventricular septal defect, Highly arched eyebrow, Secundum atrial sep... OMIM:600987
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Edema, Polyhydramnios, Secundum atrial septal defect, Primum atria... OMIM:619534
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Atrial septal defect, Neonatal death, Pulmonary artery atresia, Si... OMIM:601186
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hydrocephalus, Obesity, Mitral valve prolapse, Azoospermia ORPHA:2183
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... OMIM:618782
Cardioacrofacial Dysplasia 2
Common atrium, Atrioventricular canal defect, Left superior vena cava draining to coronary sinus OMIM:619143
Ciliary Dyskinesia, Primary, 28
Situs inversus totalis, Dynein arm defect of respiratory motile cilia OMIM:615505
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Transient ischemic attack, Pne... ORPHA:99104
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm... ORPHA:494424
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary venous occlusion, Abnormally loud pulmonic component of the second heart sound, Interlo... OMIM:265450
Developmental And Epileptic Encephalopathy 102
Situs inversus totalis, Hepatomegaly, Atrial septal defect OMIM:619881
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis, Reduced sperm motility OMIM:615434
Hydrocephaly-Low Insertion Umbilicus Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return ORPHA:2184
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Broad eyebrow, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:619343
Cat Eye Syndrome
Ventricular septal defect, Patent ductus arteriosus, Biliary atresia, Hypoplastic left heart, Tot... OMIM:115470
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Transaldolase Deficiency
Edema, Thrombocytopenia, Hydrops fetalis, Hepatosplenomegaly, Coarctation of aorta, Telangiectasi... ORPHA:101028
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Sparse eyelashes, Polyhydramnios, Pericardial effusion, Sparse eyebrow, Multiple muscular ventric... OMIM:620070
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Absent outer dynein arms, Ventricular septal defect, Dextrocardia OMIM:616037
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Heterota... ORPHA:99125
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Left-to-right shunt, Hypospadias, Endometriosis, Patent ductus arteriosus, Muscular ventricular s... ORPHA:363444
Ciliary Dyskinesia, Primary, 1
Male infertility, Absent outer dynein arms, Communicating hydrocephalus, Situs inversus totalis OMIM:244400
White Forelock With Malformations
Atrial septal defect, White forelock, Prominent veins on trunk, Poliosis OMIM:277740
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Peripheral arteriovenous fistula, Edema, Pulmonary emb... ORPHA:90308
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect, Reduc... OMIM:619608
Ciliary Dyskinesia, Primary, 5
Situs inversus totalis, Reduced sperm motility OMIM:608647
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Synophrys, Spina bifida occulta, Perimembranous ventricular septal defect, Transposition of the g... OMIM:617877
Total Anomalous Pulmonary Venous Return 1
Recurrent respiratory infections, Dextrocardia, Total anomalous pulmonary venous return, Pulmonar... OMIM:106700
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Total anomalous pulmonary venous return, Anemia OMIM:618313
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor, Recurrent lower respiratory tract infections, Perimembranous ventricular septa... OMIM:619170
Bardet-Biedl Syndrome 17
Dextrocardia, Situs inversus totalis, Obesity, Hypogonadism, Micropenis OMIM:615994
Congenital Tracheomalacia
Ventricular septal defect, Pneumonia, Cardiomegaly, Patent ductus arteriosus, Partial anomalous p... ORPHA:95430
Neurocardiofaciodigital Syndrome
Optic disc pallor, Sparse eyebrow, Patent ductus arteriosus, Double inlet left ventricle, Sparse ... OMIM:619869
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... ORPHA:439
Tricuspid Atresia
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri... ORPHA:1209
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Pericardial effusion, Pulmonary capillary hemangiomatosis, Hemothora... ORPHA:199241
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Desmosterolosis
Ambiguous genitalia, Splenomegaly, Patent ductus arteriosus, Anomalous pulmonary venous return ORPHA:35107
Laterality Defects, Autosomal Dominant
Asplenia, Heterotaxy, Situs inversus totalis OMIM:601086
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Hydrocephalus, Obesity, Hypogonadism ORPHA:141333
Alg12-Cdg
Elevated hepatic transaminase, Recurrent respiratory infections, Hypospadias, Polyhydramnios, Ede... ORPHA:79324
Autosomal Recessive Spastic Paraplegia Type 46
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... ORPHA:320391
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral artery hypoplasia, Unilateral vertebral artery hypoplasia, Dextrocardia, Situs inversus... OMIM:613686
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart OMIM:614474
Birk-Aharoni Syndrome
Macrocytic anemia, Cryptorchidism, Muscular ventricular septal defect, Micropenis, Thick eyebrow OMIM:620071
Down Syndrome
Aganglionic megacolon, Ventricular septal defect, Atrioventricular canal defect, Pulmonary artery... OMIM:190685
Double Outlet Right Ventricle
Hypoparathyroidism, Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart ... ORPHA:3426
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:608644
Sotos Syndrome
Ventricular septal defect, Sparse eyebrow, Cryptorchidism, Patent ductus arteriosus, Muscular ven... OMIM:117550
Ciliary Dyskinesia, Primary, 23
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic bronchitis OMIM:615451
Monosomy 13Q34
Epistaxis, Hematochezia, Horizontal eyebrow, Pulmonic stenosis, Common atrium, Hepatic steatosis ORPHA:96168
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Hypoglossia With Situs Inversus
Asplenia, Polysplenia, Situs inversus totalis OMIM:612776
Chromosome 9P Deletion Syndrome
Omphalocele, Inguinal hernia, Ventricular septal defect, Hypospadias, Highly arched eyebrow, Pate... OMIM:158170
Snijders Blok-Campeau Syndrome
Inguinal hernia, Perimembranous ventricular septal defect, Pulmonic stenosis, Atrial septal defec... OMIM:618205
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... OMIM:620203
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Hydrocephalus, Cardiomegaly OMIM:300886
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Inguinal hernia, Hypospadias, Highly arched eyebrow, Lymphedema, Sparse eyebrow, Increased mean p... ORPHA:487796
Houge-Janssens Syndrome 3
Atrial septal defect, Umbilical hernia, Muscular ventricular septal defect, Inguinal hernia OMIM:618354
Ciliary Dyskinesia, Primary, 7
Situs inversus totalis, Dextrocardia, Recurrent pneumonia, Bronchiectasis OMIM:611884
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Diencephalic Syndrome
Hydrocephalus, Long penis, Cachexia, Decreased body weight ORPHA:1672
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Frontal encephalocele ORPHA:261102
Nephronophthisis 14
Situs inversus totalis, Polycystic kidney dysplasia OMIM:614844
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... OMIM:619371
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis, Hypoplasia of penis, Holoprosencephaly ORPHA:990
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hydrocephalus, Hypogonadism, Obesity OMIM:601794
Ogden Syndrome
Bicuspid aortic valve, Lymphedema, Cardiomegaly, Microvesicular hepatic steatosis, Secundum atria... OMIM:300855
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Prolonged QT interval, Hypoplasia of penis, Bilateral cryptorchidi... ORPHA:66634
Ciliary Dyskinesia, Primary, 35
Situs inversus totalis, Recurrent pneumonia, Abdominal situs ambiguus, Bronchiectasis OMIM:617092
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Abnormal coronary artery morphology, Mildly reduced ... ORPHA:99094
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si... ORPHA:2299
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Ventricular septal defect, Splenomegaly, Patent... OMIM:606003
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Hydrocephalus, Oligozoospermia, Azoospermia, Macro... ORPHA:8
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding, Venous malformation OMIM:600195
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Dextrocardia, Situs inversus totalis, Jaundice, Hypertension, Multiple renal cysts,... OMIM:613095
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Bicuspid aortic valve, Facial palsy, Spina bifida, Optic nerve hypoplasia, ... ORPHA:508498
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... OMIM:615504
Adams-Oliver Syndrome 4
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Mirror Movements 3
Situs inversus totalis OMIM:616059
Rubinstein-Taybi Syndrome 1
Polyhydramnios, Premature thelarche, Bilateral cryptorchidism, Low anterior hairline, Papillary c... OMIM:180849
Nephronophthisis 2
Situs inversus totalis, Hypertension, Pulmonary hypoplasia, Pulmonary insufficiency, Renal cortic... OMIM:602088
Sandestig-Stefanova Syndrome
Laterally extended eyebrow, Highly arched eyebrow, Muscular ventricular septal defect, Perimembra... OMIM:618804
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater... OMIM:617205
Agnathia-Otocephaly Complex
Situs inversus totalis, Secundum atrial septal defect, Pulmonary hypoplasia, Polyhydramnios OMIM:202650
Central Precocious Puberty In Male
Hydrocephalus, Abnormality of the testis size, Precocious puberty in males ORPHA:649929
Oligomeganephronia
Branchial cyst, Pulmonary venous occlusion, Secundum atrial septal defect, Optic disc coloboma, D... ORPHA:2260
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Hydrocele testis, Sparse scalp hair, Muscular ventricular septal defect, High anterior hairline OMIM:620062
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Tetraamelia Syndrome 2
Absent nipple, Ventricular septal defect, Hypoplastic pulmonary veins, Bilateral lung agenesis, M... OMIM:618021
Meckel Syndrome
Accessory spleen, Encephalocele, Multicystic kidney dysplasia, True hermaphroditism, Pancreatic f... ORPHA:564
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Secundum atrial sept... OMIM:608779
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Isotretinoin-Like Syndrome
Inguinal hernia, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morp... ORPHA:2306
Adrenal Hypoplasia, Congenital
Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Oligozoospermia, Azoospermia, ... OMIM:300200
Temple Syndrome
Small for gestational age, Precocious puberty, Cryptorchidism, Hydrocephalus, Obesity ORPHA:254516
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect, Hepatic fibrosis, Decreased liver function ORPHA:306550
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Omphalocele, Mesenteric cyst, Recurrent respiratory infections, Atrial septal defect, Ventricular... OMIM:618316
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bicornuate uterus OMIM:258320
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Fetal ascites, Ascending aorta hypoplasia,... OMIM:619503
Ellis Van Creveld Syndrome
Failure to thrive, Hypospadias, Ventricular septal defect, Dextrocardia, Abnormal heart valve mor... ORPHA:289
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, External genital hypoplasia, Patent ductus arteriosus, Pulmonic stenos... OMIM:249670
Johanson-Blizzard Syndrome
Hepatic fibrosis, Atrial septal defect, Micropenis, Hepatomegaly, Hypospadias, Elevated circulati... OMIM:243800
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Jaundice, Thromb... ORPHA:290
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... OMIM:614954
Renpenning Syndrome
Heterotaxy, Hypospadias, Decreased testicular size, Cachexia ORPHA:3242
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Isosexual precocious puberty, Abnormality ... ORPHA:91348
Desmosterolosis
Patent ductus arteriosus, Ambiguous genitalia, female, Ambiguous genitalia, male, Total anomalous... OMIM:602398
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Omphalocele, Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Patent duct... OMIM:601927
Bardet-Biedl Syndrome 19
Ventricular septal defect, External genital hypoplasia, Partial atrioventricular canal defect, Pa... OMIM:615996
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Congenital Myopathy 11
Elevated hepatic transaminase, Polyhydramnios, Patent ductus arteriosus, Atrial septal defect, Pa... OMIM:619967
Joubert Syndrome
Situs inversus totalis, Encephalocele, Aganglionic megacolon, Highly arched eyebrow ORPHA:475
Familial Isolated Restrictive Cardiomyopathy
Hepatomegaly, Recurrent respiratory infections, Atrial fibrillation, Tricuspid regurgitation, Lef... ORPHA:75249
Simpson-Golabi-Behmel Syndrome, Type 1
Polyhydramnios, Abnormal lung lobation, Renal cyst, Atrial septal defect, Hepatoblastoma, Hepatom... OMIM:312870
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Cardiac arrest, Megaloblastic anemia, Paroxysmal atrial tachycardia, C... ORPHA:49827
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Atrioventricular canal defect, Left ventricular outflow tract obstruct... OMIM:615779
Proteus Syndrome
Lymphangioma, Splenomegaly, Hyperkeratosis, Venous malformation OMIM:176920
Benign Schwannoma
Facial palsy, Schwannoma, Peripheral schwannoma, Abnormality of the twelfth cranial nerve, Sclera... ORPHA:252164
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Abnormal left ventricu... ORPHA:2041
Diets-Jongmans Syndrome
Inguinal hernia, Ventricular septal defect, Hypospadias, Polyhydramnios, Cryptorchidism, Heterota... OMIM:618846
Temple Syndrome
Small for gestational age, Precocious puberty, Cryptorchidism, Overweight, Hydrocephalus, Obesity... OMIM:616222
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Ellis-Van Creveld Syndrome
Hypospadias, Cryptorchidism, Epispadias, Atrial septal defect, Common atrium OMIM:225500
Li-Campeau Syndrome
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Atrial septal defect, Microp... OMIM:619189
Hadziselimovic Syndrome
Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Low anterior hairline, ... OMIM:612946
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Polyhydramnios, Isomerism, Pulmonary hypoplasia, Transposition of the great arterie... OMIM:314390
Kaposi Sarcoma
Generalized lymphadenopathy, Lymphedema, Venous insufficiency, Abnormality of the spleen, Abnorma... ORPHA:33276
Meckel Syndrome 14
Occipital encephalocele, Tricuspid regurgitation, Increased nuchal translucency, Pneumothorax, Mi... OMIM:619879
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Cardiomegaly, Midsystolic murmur, Atrioventricular block, Holosys... ORPHA:1677
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse scalp hair, Ventricular septal defect, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, M... OMIM:210710
Noonan Syndrome 8
Curly hair, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Patent ductus arteriosus, ... OMIM:615355
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Cryptorchidism, Hydrocephalus, Hypoplastic female external genitalia, Ventriculomegaly OMIM:618577
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr... OMIM:616843
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Edema, Polyhydramnios, Cardiomegaly... ORPHA:363705
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Optic disc pallor, Highly arched eyebrow, Nail dystrophy, Atrial septal ... OMIM:300887
Arnold-Chiari Malformation Type I
Myelopathy, Cranial nerve compression, Abnormality of the vestibulocochlear nerve, Abnormality of... ORPHA:268882
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Mungan Syndrome
Abnormality of the autonomic nervous system, Tricuspid regurgitation, Perimembranous ventricular ... OMIM:611376
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Atrial septal defect, Pancytopenia, Ventricular sept... OMIM:614576
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Fumarase Deficiency
Polyhydramnios, Intrahepatic cholestasis, Optic atrophy, Ascites, Perimembranous ventricular sept... OMIM:606812
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Muscular ventricular septal defect, Low posterior hairline, Webbed neck, Spina bifida occulta, Hy... OMIM:619227
Halperin-Birk Syndrome
Inguinal hernia, Optic atrophy, Perimembranous ventricular septal defect, Long eyelashes, Umbilic... OMIM:618651
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, S... OMIM:126320
Carpenter Syndrome 2
Tricuspid regurgitation, Dextrocardia, Supernumerary nipple, Highly arched eyebrow, Situs inversu... OMIM:614976
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Ventricular septal defect, Patent foramen ovale, Increased nuchal translucency, Cryptorchidism, C... OMIM:618494
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi... ORPHA:1354
Marden-Walker Syndrome
Abnormal penis morphology, Hypospadias, Ventricular septal defect, Dextrocardia, Situs inversus t... ORPHA:2461
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Ventricular septal defect, Hypospadias, Cryptorchidism, Reduced alpha/beta synthesis ratio, Hypoc... OMIM:301040
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Peters Plus Syndrome
Multicystic kidney dysplasia, Inguinal hernia, Hypospadias, Polyhydramnios, Cryptorchidism, Paten... ORPHA:709
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomyopathy, Ao... OMIM:617912
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Atrial Septal Defect 2
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... OMIM:607941
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Inguinal hernia, Hypospadias, Cryptorchidism, Clitoral hypoplasia, Total anomalous... OMIM:609945
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Cryptorchidism, Synophrys, Abnormal heart morpho... ORPHA:401935
Global Developmental Delay With Or Without Impaired Intellectual Development
Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Pulmonary sequestration, Atrial... OMIM:618330
Diabetic Embryopathy
Ventricular septal defect, Abnormality of the pancreas, Cryptorchidism, Abnormal morphology of fe... ORPHA:1926
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Prune Belly Syndrome
Recurrent respiratory infections, Multicystic kidney dysplasia, Ventricular septal defect, Crypto... ORPHA:2970
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Mosaic Trisomy 9
Hypoplasia of penis, Ventricular septal defect, Dextrocardia, Polyhydramnios, Spina bifida, Asple... ORPHA:99776
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Frontal hirsutism, Cryptorchidism, Patent ductus arteriosus, Pulmonic stenosis,... ORPHA:3304
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Cardiomegaly, Pedal edema, Atrial septal defect, Patent fora... ORPHA:980
Intellectual Developmental Disorder, Autosomal Dominant 21
Cryptorchidism, Patent ductus arteriosus, Coarctation of aorta, Long eyelashes, Atrial septal defect OMIM:615502
Williams-Beuren Region Duplication Syndrome
Small for gestational age, Cryptorchidism, Hydrocephalus, Failure to thrive, Ventriculomegaly OMIM:609757
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Greig Cephalopolysyndactyly Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Abnormal heart morphology, Ventriculomegaly OMIM:175700
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect, Hypospadias, Cryptorchidism, Hydrocephalus, Ventriculomegaly OMIM:218350
Lead Poisoning
Decreased female libido, Small for gestational age, Abnormality of the menstrual cycle, Oligozoos... ORPHA:330015
Glossopharyngeal Neuralgia
Cranial nerve compression, Schwannoma, Jaw claudication, Abnormal glossopharyngeal nerve morpholo... ORPHA:221098
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism, Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis ORPHA:2701
Edinburgh Malformation Syndrome
Hydrocephalus, Failure to thrive OMIM:129850
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Aganglionic megacolon, Ventricular septal defect, Patent ductus arteriosus, Hyperten... OMIM:613870
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Omphalocele, Papilledema, Bicuspid aortic valve, Ventricular septal defect, Premature thelarche, ... ORPHA:371428
Familial Multiple Nevi Flammei
Edema, Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformat... ORPHA:624
Von Willebrand Disease
Venous insufficiency, Abnormal mitral valve morphology ORPHA:903
Spinal Muscular Atrophy, Type I
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect OMIM:253300
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Cardiomegaly, Atrial septal defect, Microp... OMIM:602782
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Ventricular septal defect, Highly arched eyebrow, Synophrys, Partial anomalous pulmonary venous r... OMIM:301044
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Kagami-Ogata Syndrome
Omphalocele, Hepatomegaly, Inguinal hernia, Ventricular septal defect, Polyhydramnios, Splenomega... OMIM:608149
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased number of peripheral myelinated nerve fibers, Overriding aorta, Bicuspid aortic valve, ... ORPHA:477817
Renpenning Syndrome 1
Brittle hair, Ventricular septal defect, Hypospadias, Phimosis, Situs inversus totalis, Sparse ha... OMIM:309500
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Low posterior hairline, Pulm... OMIM:179613
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Obesity, Micropenis ORPHA:171839
Indomethacin Embryofetopathy
Multicystic kidney dysplasia, Ventricular septal defect, Hydrops fetalis, Cardiomyopathy, Atrial ... ORPHA:1909
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Cong... OMIM:614980
Bresek Syndrome
Neonatal death, Cryptorchidism, Hydrocephalus, Decreased testicular size ORPHA:85284
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Aganglionic megacolon, Bicuspid aortic valve, Ventricular septal defect, Aspl... ORPHA:210122
Mullegama-Klein-Martinez Syndrome
Facial palsy, Curly eyelashes, Low anterior hairline, Coarctation of aorta, Hypoplastic left hear... OMIM:301022
Alagille Syndrome 2
Cholestasis, Renal cyst, Hypertension, Cholestatic liver disease, Pulmonic stenosis, Atrial septa... OMIM:610205
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Papilledema, Ventricular septal defect, Alopecia totalis, Pericardi... OMIM:618775
Feingold Syndrome Type 1
Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular septal defects, Abnor... ORPHA:391641
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu... ORPHA:99050
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Peripheral axonal neuropathy, Polyhydramnios, Patent ductus arteriosus, Axonal loss, Pulmonary hy... OMIM:616867
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent respiratory infections, Psoriasiform dermatitis, Acantholysis, Multiple muscular ventri... OMIM:615508
Syndromic Diarrhea
Brittle hair, Bicuspid aortic valve, Abnormality of the liver, Hepatic fibrosis, Hypoplasia of th... ORPHA:84064
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Bicuspid aortic valve, Highly arched eyebrow, Frontal balding, Patent ductu... OMIM:612474
Cardiospondylocarpofacial Syndrome
Ventricular septal defect, Muscular ventricular septal defect, Hypoplastic aortic arch, Dysplasti... OMIM:157800
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Inguinal hernia, Cryptorchidism, Patent ductus arteriosus, Coarctation of aorta, Normochromic ane... OMIM:614857
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Brittle hair, Ventricular septal defect, Pulmonary artery stenosis, Abnormality of the ... ORPHA:75389
Noonan Syndrome 10
Curly hair, Mitral stenosis, Ventricular septal defect, Sparse eyebrow, Cryptorchidism, Increased... OMIM:616564
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Nonimmune hydrops fetalis, Pericardia... OMIM:619313
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Fetal Trimethadione Syndrome
Ambiguous genitalia, Ventricular septal defect, Hypospadias, Synophrys, Transposition of the grea... ORPHA:1913
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect, Highly arched eyebrow ORPHA:1388
Milroy Disease
Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Hydrocele testis, Varicose veins, H... ORPHA:79452
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Trisomy 13
Ventricular septal defect, Abnormal eyelash morphology, Cryptorchidism, Patent ductus arteriosus,... ORPHA:3378
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Ext... OMIM:617021
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Inguinal hernia, Bicuspid aortic valve, Ventricular septal defect, Highly arched eyebrow, Cryptor... ORPHA:329224
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h... OMIM:300845
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Decreased response to growth hormone stimulation test, Hypospadias, Lo... OMIM:220210
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Peripheral axonal neuropathy, Inguinal hernia, Congestive heart failure, Recurrent pneumonia, Art... ORPHA:1900
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Paten... OMIM:618652
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Hypoplastic spleen, Patent foramen ovale ORPHA:89844
Hec Syndrome
Communicating hydrocephalus, Cardiomyopathy, Vaginal hydrocele, Endocardial fibroelastosis ORPHA:2119
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Elevated circulating aspartate ... OMIM:610198
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Patent ductus arteriosus, ... OMIM:612561
Trichorhinophalangeal Syndrome, Type Ii
Recurrent respiratory infections, Sparse scalp hair, Internal carotid artery dissection, Bicuspid... OMIM:150230
Cirrhotic Cardiomyopathy
Cardiomegaly, Global systolic dysfunction, Hepatomegaly, Elevated pulmonary artery pressure, Asci... ORPHA:57777
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Failure to thrive ORPHA:26
Noonan Syndrome 2
Curly hair, Abnormal coronary artery origin, Ventricular septal defect, Polyhydramnios, Sparse ey... OMIM:605275
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Surfactant Metabolism Dysfunction, Pulmonary, 1
Desquamative interstitial pneumonitis, Intraalveolar phospholipid accumulation, Absent bronchoalv... OMIM:265120
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Hypertrophic cardiomyopathy, Failure to... OMIM:612938
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Hiatus hernia, Patent ductus arteriosus, Recurrent upper respiratory t... OMIM:619769
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Gjc2-Related Late-Onset Primary Lymphedema
Genital edema, Predominantly lower limb lymphedema, Edema of the dorsum of hands, Venous insuffic... ORPHA:568051
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... ORPHA:99106
Multifocal Atrial Tachycardia
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... ORPHA:3282
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... ORPHA:404443
Mucopolysaccharidosis-Plus Syndrome
Synophrys, Low anterior hairline, Leukopenia, Coarse hair, Macrovesicular hepatic steatosis, Neut... OMIM:617303
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Recurrent respiratory infections, Patent ductus arteriosus, Atrial septal defect, H... ORPHA:1842
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Parakeratosis, Severe B lymphocytopenia, Inguinal hernia, Biliary hyperplasia, Cryp... ORPHA:83617
Isolated Cleft Lip
Situs inversus totalis, Umbilical hernia, Polyhydramnios ORPHA:199302
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Ring Chromosome 7 Syndrome
Hypospadias, Situs inversus totalis, Hydrocele testis, Hypogonadism, Holoprosencephaly, Ventricul... ORPHA:1449
Pentalogy Of Cantrell
Encephalocele, Absent gallbladder, Omphalocele, Ventricular septal defect, Abnormal pericardium m... ORPHA:1335
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618974
Triploidy
Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Meningocele, Abnormal cardiac se... ORPHA:3376
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, C... OMIM:612541
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Carpenter Syndrome 1
Omphalocele, Ventricular septal defect, External genital hypoplasia, Precocious puberty, Cryptorc... OMIM:201000
Hypermethioninemia Due To Adenosine Kinase Deficiency
Secundum atrial septal defect, Elevated circulating alanine aminotransferase concentration, Chole... OMIM:614300
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect, Low anterior hairline OMIM:608227
Seckel Syndrome 9
Recurrent respiratory infections, Ambiguous genitalia, Ventricular septal defect, Polyhydramnios,... OMIM:616777
Suleiman-El-Hattab Syndrome
Recurrent respiratory infections, Optic disc pallor, Thick eyebrow, Ventricular septal defect, In... OMIM:618950
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Alopecia, Parakeratosis, Hyperkeratosis, Stillbirth, Abnormal cardiac septum morphology, Pulmonar... OMIM:308050
Eisenmenger Syndrome
Ventricular tachycardia, Pedal edema, Aortopulmonary window, Iron deficiency anemia, Abnormality ... ORPHA:97214
Wrinkly Skin Syndrome
Inguinal hernia, Short nail, Cryptorchidism, Muscular ventricular septal defect, Sparse hair, Umb... OMIM:278250
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Polyhydramnios, Coarse hair, Sparse hair, Atrial septal defect, Patent foramen ovale, Tricuspid r... OMIM:617506
Adams-Oliver Syndrome 5
Inguinal hernia, Portal vein thrombosis, Splenomegaly, Hypersplenism, Pulmonary arterial hyperten... OMIM:616028
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Right atrial enlargement, Reduced left ventr... OMIM:612422
Beemer-Ertbruggen Syndrome
Ambiguous genitalia, Cryptorchidism, Communicating hydrocephalus ORPHA:1237
Autism Spectrum Disorder Due To Auts2 Deficiency
Inguinal hernia, Highly arched eyebrow, Cryptorchidism, Abnormal heart morphology, Atrial septal ... ORPHA:352490
Chromosome 18Q Deletion Syndrome
Recurrent respiratory infections, Inguinal hernia, Absence of the pulmonary valve, Ventricular se... OMIM:601808
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Hypospadias, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Holop... ORPHA:77298
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent duc... OMIM:601005
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Cryptorchidism, ... OMIM:613834
Thanatophoric Dysplasia Type 2
Encephalocele, Polyhydramnios, Increased nuchal translucency, Patent ductus arteriosus, Aplasia/H... ORPHA:93274
Alagille Syndrome
Hepatomegaly, Telangiectasia of the skin, Ventricular septal defect, Cryptorchidism, Cholestasis,... ORPHA:52
Wolcott-Rallison Syndrome
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Dehydration, Iron d... ORPHA:1667
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... OMIM:609637
Transketolase Deficiency
Hepatomegaly, Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosu... ORPHA:488618
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Male infertility, Clitoral hypertrophy, Hypospadias, Bilateral... ORPHA:90797
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Weight loss, Hypogonadism, Abnorma... ORPHA:85450
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ambiguous genitalia, Ventricular septal defect, Hypoplastic right heart, Highly arched eyebrow, P... OMIM:618142
Chromosome 5Q12 Deletion Syndrome
Ventricular septal defect, Increased nuchal translucency, Patent ductus arteriosus, Hypotension, ... OMIM:615668
Genitopalatocardiac Syndrome
Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Hydrocephalus, Abnormal cardiac septum m... ORPHA:2075
Teebi Hypertelorism Syndrome 1
Omphalocele, Ventricular septal defect, Highly arched eyebrow, Widow's peak, Hydrocele testis, Ao... OMIM:145420
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Abnormal aortic morphology, Abnormal ... ORPHA:3405
Gorlin Syndrome
Cryptorchidism, Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:377
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Asplenia, Cryptorchidism, Abdominal situs inversus, Pulmonic stenosis,... OMIM:619123
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Venous insufficiency, Congestive heart failure, Ovarian neoplasm, Arteriovenous malformation, Lym... ORPHA:137608
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Coronary artery calcification, Cardiomegaly, Cong... OMIM:614473
Meige Disease
Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, Lymphedema, Peri... ORPHA:90186
3C Syndrome
Recurrent respiratory infections, Inguinal hernia, Hypoplasia of penis, Ventricular septal defect... ORPHA:7
Pituitary Dermoid And Epidermoid Cysts
Oligozoospermia, Hypogonadism, Oligomenorrhea, Amenorrhea ORPHA:91351
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Muscular ventricular septal defect, Low anterior hairline, Dry hair OMIM:618569
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Venous insufficiency, Thin skin, Abnormal cerebral vascular morphology, Pulmonary embolism ORPHA:745
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Facial palsy, Left atrial enlargemen... OMIM:619424
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Highly arched eyebrow, Abnormal cranial nerve mo... ORPHA:228399
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Abnormality of the male genitalia, Patent ductus arteriosus, Atria... OMIM:614886
Angioosteohypotrophic Syndrome
Prominent superficial veins, Telangiectasia of the skin, Venous malformation, Edema ORPHA:75508
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Left ventricular hypertrophy, Secundum atrial sep... OMIM:108900
Xk Aprosencephaly Syndrome
Atrial septal defect, Abnormal external genitalia, Ventricular septal defect, Polyhydramnios ORPHA:3469
Emanuel Syndrome
Recurrent respiratory infections, Inguinal hernia, Ventricular septal defect, Cryptorchidism, Pat... OMIM:609029
Optic Pathway Glioma
Precocious puberty, Hydrocephalus ORPHA:2086
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Absent eyebrow, Alopecia, Inguinal hernia, Ventricular septal defect, Absent eyelashes, Cryptorch... ORPHA:166035
Masa Syndrome
Hydrocephalus, Ventriculomegaly OMIM:303350
Pseudotrisomy 13 Syndrome
Encephalocele, Omphalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular ca... OMIM:264480
Axenfeld-Rieger Syndrome, Type 2
Cryptorchidism, Hydrocephalus, Hypospadias, Abnormal heart morphology OMIM:601499
Myopathy, Centronuclear, X-Linked
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation OMIM:310400
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, ... OMIM:617397
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,... OMIM:606519
Myotonic Dystrophy 2
Hypogonadism, Oligozoospermia OMIM:602668
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly, Abnormal heart morphology ORPHA:2185
8p23.1 deletion syndrome
Atrial septal defect, Cryptorchidism, Atrioventricular canal defect, Abnormal heart morphology DECIPHER:39
X-Linked Intellectual Disability, Nascimento Type
Abnormal hair whorl, Synophrys, Neutropenia, Micropenis, Patent foramen ovale, Generalized hirsut... ORPHA:163956
Congenital Toxoplasmosis
Hydrocephalus, Failure to thrive in infancy, Ventriculomegaly, Cardiomegaly ORPHA:858
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Ventricular septal defect, Lymphe... OMIM:153400
Lessel-Kreienkamp Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Patent ... OMIM:619149
22Q11.2 Deletion Syndrome
Polyhydramnios, Abnormal lung lobation, Abnormal aortic arch morphology, Hypoplasia of the thymus... ORPHA:567
Thanatophoric Dysplasia
Polyhydramnios, Increased nuchal translucency, Patent ductus arteriosus, Pulmonary hypoplasia, At... ORPHA:2655
Opitz Gbbb Syndrome
Omphalocele, Bifid scrotum, Enlarged ovaries, Inguinal hernia, Ventricular septal defect, Hypospa... ORPHA:2745
20Q13.33 Microdeletion Syndrome
Dilation of Virchow-Robin spaces, Hypospadias, Decreased scrotal rugation, Highly arched eyebrow,... ORPHA:261311
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Telangiecta... OMIM:175050
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Venous insufficiency, Thin skin, Abnormal cerebral vascular morphology, Pulmonary embolism ORPHA:743
Emanuel Syndrome
Ventriculomegaly, Truncus arteriosus, Ventricular septal defect, Cryptorchidism, Hydrocephalus, H... ORPHA:96170
Trisomy 8P
Abnormal atrioventricular connection, Cryptorchidism, Recurrent upper respiratory tract infection... ORPHA:264450
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Jaundice, De... OMIM:251290
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal defect, Hepatic melanin-l... OMIM:208085
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Pedal edema, Abnormal left ventricular ... ORPHA:99103
Short-Rib Thoracic Dysplasia 12
Omphalocele, Hepatomegaly, Inguinal hernia, Ambiguous genitalia, Ventricular septal defect, Edema... OMIM:269860
Thymic Neuroendocrine Tumor
Pancreatic islet cell adenoma, Pituitary null cell adenoma, Chronic noninfectious lymphadenopathy... ORPHA:97289
Mirage Syndrome
Hypospadias, Hypergonadotropic hypogonadism, Cryptorchidism, Patent ductus arteriosus, Thrombocyt... OMIM:617053
Mogs-Cdg
Hepatomegaly, Absent brainstem auditory responses, Pulmonary edema, Alopecia, Fair hair, Polyhydr... ORPHA:79330
Radial Aplasia, X-Linked
Hydrocephalus, Penile hypospadias OMIM:312190
Polysyndactyly With Cardiac Malformation
Ventricular septal defect, Polyhydramnios, Renal cyst, Stillbirth, Atrial septal defect, Hepatic ... OMIM:263630
Fg Syndrome Type 1
Inguinal hernia, Hypospadias, Optic nerve hypoplasia, Cryptorchidism, Coarctation of aorta, Mitra... ORPHA:93932
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Ventricular septal defect, Cryptorchidism, Aortic root aneurysm, Mitral regurgitation, Atrial sep... OMIM:301039
Tick-Borne Encephalitis
Elevated hepatic transaminase, Facial palsy, Leukocytosis, Abnormal glossopharyngeal nerve morpho... ORPHA:297
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abnormality of the pancreas, Abnormality of the spleen, Abnormal lym... ORPHA:543
Sifrim-Hitz-Weiss Syndrome
Ambiguous genitalia, Ventricular septal defect, Hypogonadotropic hypogonadism, Cryptorchidism, Pa... OMIM:617159
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Recurrent respiratory infections, Abnormal cerebral vascular morphology, Precocious puberty, Pate... ORPHA:2637
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... OMIM:617047
Thymic Carcinoma
Palpebral edema, Edema, Neoplasm of the thymus, Mediastinal lymphadenopathy, Abnormal vena cava m... ORPHA:99868
2,4-Dienoyl-Coa Reductase Deficiency
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Failure t... OMIM:616034
Fried Syndrome
Hydrocephalus ORPHA:85335
Diamond-Blackfan Anemia 16
Atrial septal defect, Anemia, Pulmonic stenosis OMIM:617408
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Abnormal number of hair whorls, Mitral atresia, Patent ductus arteriosus, Optic atrophy, Coarctat... OMIM:618164
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Mitral regurgitation, Ventricular septal defect, Vascular ring OMIM:603387
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morphology, Palpitations, Pulmona... ORPHA:2847
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Overweight, Cryptorchidism, Dilated third ventricle, Hydrocephalus, Hypogonadism, Micropenis, Fai... ORPHA:500055
Hydrolethalus
Cryptorchidism, Hydrocephalus, Anencephaly, Abnormal fallopian tube morphology ORPHA:2189
Stormorken Syndrome
Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Thrombocytopenia, Stroke-like ... OMIM:185070
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Inguinal hernia, Dilation of Virchow-Robin spaces, Ventricular septal defect, Hypospadias, Polyhy... OMIM:300998
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Peripheral axonal neuropathy, Secundum atrial septal defect, Congestive heart failure, Patent duc... OMIM:616866
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Tricuspid regurgitation, Ventricular septal defect, Increased nuchal translucency, Patent ductus ... OMIM:618870
Congenital Heart Defects And Skeletal Malformations Syndrome
Medial flaring of the eyebrow, Ventricular septal defect, Repeated pneumothoraces, Hypospadias, C... OMIM:617602
Kleeblattschaedel
Hydrocephalus OMIM:148800
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Thyroid lymph... OMIM:235510
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... ORPHA:79239
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Ventricular septal defect, Patent ductus arteriosus, Optic atrophy, Low anterior hairline, Atrial... OMIM:220500
Faciocardiomelic Syndrome
Common atrium, Short eyelashes OMIM:612731
Developmental And Epileptic Encephalopathy 66
Ventricular septal defect, Dextrocardia, Cryptorchidism, Synophrys, Neutropenia, Atrial septal de... OMIM:618067
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Low posterior hairline, Pulm... OMIM:300963
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Ventricular septal defect, Aortopulmonary collateral arteries, Polyhydramnios, Opti... OMIM:620025
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec... OMIM:108800
Mosaic Trisomy 16
Ventricular septal defect, Hypospadias, Large placenta, Patent ductus arteriosus, Abnormal lung m... ORPHA:1708
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Inguinal hernia, Vascular dilatation, Periorbital edema, Atelectasis, Recurrent... OMIM:613177
Trisomy 1Q
Small scrotum, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Ambiguous genitalia, Ven... ORPHA:261344
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidi... ORPHA:99429
Recombinant 8 Syndrome
Small scrotum, Ventricular septal defect, Abnormal hair morphology, Cryptorchidism, Pulmonary art... ORPHA:96167
Chromosome 15Q25 Deletion Syndrome
Macrocytic anemia, Inguinal hernia, Ventricular septal defect, Dextrocardia, Cryptorchidism, Syno... OMIM:614294
Pallister-Hall-Like Syndrome
Occipital encephalocele, Micropenis, Hydrocephalus OMIM:241800
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Telangiectasia, Frontal upsweep of hair, Atr... OMIM:612582
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Increased nuchal translucency, ... ORPHA:453499
Pearson Syndrome
Decreased response to growth hormone stimulation test, Hydrops fetalis, Dehydration, Renal cyst, ... ORPHA:699
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Oligozoospermia, Oligomenorrhea, Infertility, Ambiguous genitalia, Female pse... ORPHA:786
Gapo Syndrome
Oligozoospermia, Hypogonadism, Dysmenorrhea, Amenorrhea ORPHA:2067
Distal Triplication 15Q
Abnormal external genitalia, Large for gestational age, Hydrocephalus, Abnormal heart morphology,... ORPHA:314588
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Clitoral hypoplasia, Failure to thrive, Small for gestational age, Oligozoospermia OMIM:614813
Proteus-Like Syndrome
Thymus hyperplasia, Venous insufficiency, Splenomegaly, Abnormality of the parathyroid gland, Pol... ORPHA:2969
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Ventricular septal defect, Decreased response to growth hormone stimulation... OMIM:614114
Cardiofaciocutaneous Syndrome 3
Curly hair, Ventricular septal defect, Hyperkeratosis, Pulmonic stenosis, Webbed neck, Atrial sep... OMIM:615279
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse scalp hair, Inguinal hernia, Ventricular septal defect, Hypospadias, Sparse eyebrow, Recur... ORPHA:464738
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus, Small for gestational age OMIM:618302
Hypomandibular Faciocranial Dysostosis
Recurrent respiratory infections, Polyhydramnios, Patent ductus arteriosus, Optic disc coloboma, ... ORPHA:1790
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Subvalvular aortic stenosis, Atrial sep... OMIM:613001
Acrocardiofacial Syndrome
Hypoplasia of penis, Mitral stenosis, Ventricular septal defect, Hypospadias, Cryptorchidism, Coa... ORPHA:2008
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Oculocerebrocutaneous Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:1647
Atelis Syndrome 1
Ventricular septal defect, Thrombocytopenia, Bronchiectasis, Leukopenia, Atrial septal defect, An... OMIM:620184
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Alg9-Cdg
Abnormal lung lobation, Hydrops fetalis, Right ventricular dilatation, Abnormal left ventricular ... ORPHA:79328
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Inguinal hernia, Tricuspid regurgitation, Left ventricular hypertrophy, Abn... ORPHA:230851
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Optic atrophy, Atrial septal... ORPHA:457193
Fanconi Anemia
Leukopenia, Abnormality of the liver, Abnormality of the uterus, Atrial septal defect, Hypospadia... ORPHA:84
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Ventricular septal defect, Optic nerve hypoplasia, Mitral regurgitation,... OMIM:615879
Livedoid Vasculopathy
Pancytopenia, Abnormal capillary morphology, Telangiectasia of the skin, Abnormality of the perip... ORPHA:542643
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Abnormality of the ovary, Decreased testicular size ORPHA:1875
Stevenson-Carey Syndrome
Atrial septal defect, Left superior vena cava draining to coronary sinus OMIM:611961
Alexander Disease Type I
Hydrocephalus, Failure to thrive, Cachexia ORPHA:363717
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Infantile Sialic Acid Storage Disease
Hydrocephalus, Failure to thrive, Cardiomegaly OMIM:269920
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... ORPHA:91
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Recurrent viral upper respiratory tract infections, Ventricular septal defe... OMIM:616898
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Atrial... ORPHA:2519
Tarp Syndrome
Optic atrophy, Subdural hemorrhage, Neonatal death, Hepatic failure, Atrial septal defect, Tetral... OMIM:311900
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... OMIM:619910
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Tricuspid regurgitation, Atelectasis, Mediastinal lymphadenopathy, Leukocytosis, Br... OMIM:620233
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dil... OMIM:619656
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Liver Disease, Severe Congenital
Dry hair, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Lymp... OMIM:619991
Mckusick-Kaufman Syndrome
Multicystic kidney dysplasia, Aganglionic megacolon, Ventricular septal defect, Cryptorchidism, P... ORPHA:2473
Tyshchenko Syndrome
Ventricular septal defect, Thick hair, Polyhydramnios, Supernumerary nipple, Cryptorchidism, Low ... OMIM:615102
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Atrial septal defect, Ventriculomegaly, Hypospadias, Small for gestational age, Cr... OMIM:257300
3P25.3 Microdeletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Cor... ORPHA:435638
Noonan Syndrome 5
Curly hair, Polyhydramnios, Sparse eyebrow, Cryptorchidism, Fine hair, Webbed neck, Pulmonic sten... OMIM:611553
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Thick hair, Congestive he... ORPHA:505248
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Abnormal peripheral myelination, Increase... ORPHA:168563
Enlarged Parietal Foramina
Occipital encephalocele, Myelomeningocele, Abnormal cerebral vein morphology, Venous malformation ORPHA:60015
Pontocerebellar Hypoplasia, Type 7
Cryptorchidism, Hydrocephalus, Ambiguous genitalia, Micropenis, Ventriculomegaly OMIM:614969
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Meningocele, Anencephaly, Renal cyst, Bile duct prolife... OMIM:611134
Peroxisome Biogenesis Disorder 5A (Zellweger)
Renal cyst, Atrial septal defect, Intrahepatic biliary dysgenesis, Hepatomegaly, Tricuspid regurg... OMIM:614866
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Secundum atrial septal defect, Cryptorchidism, Micropenis, Hydrocephalus OMIM:619951
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Nestor-Guillermo Progeria Syndrome
Sparse scalp hair, Prominent superficial veins, Alopecia, Sparse eyelashes, Left atrial enlargeme... OMIM:614008
Classical-Like Ehlers-Danlos Syndrome Type 2
Alopecia, Inguinal hernia, Carotid artery stenosis, Pericardial effusion, Cryptorchidism, Promine... ORPHA:536532
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, External genital hypoplasia, Dilated cardiomyopathy, Hypogonadism, Atrial ... OMIM:615981
Developmental Delay With Or Without Dysmorphic Facies And Autism
Omphalocele, Inguinal hernia, Small scrotum, Ventricular septal defect, Supernumerary nipple, Hig... OMIM:618454
Alexander Disease
Hydrocephalus, Increased CSF protein concentration OMIM:203450
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Patent ductus arteriosus, Optic disc coloboma OMIM:241310
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Facial hypertrichosis, Palpebral edema, Patent ductus arteriosus, Hepatosplenomegaly, Atrial sept... ORPHA:397709
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... ORPHA:1880
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Papilledema, Mitral valve calcification, Pancytopenia, Abnormal... ORPHA:2072
Adams-Oliver Syndrome 1
Encephalocele, Alopecia, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, ... OMIM:100300
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Hypergonadotropic hypogonadism, Hydrocephalus, Hypogonadism, Micropeni... OMIM:300514
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Male infertility, Hypospadias, Precocious puberty in females, Bilateral cryptorchi... ORPHA:90793
16P12.1P12.3 Triplication Syndrome
Tachycardia, Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Abn... ORPHA:485405
Seizures-Scoliosis-Macrocephaly Syndrome
Atrial septal defect, Cryptorchidism, Polyhydramnios ORPHA:466926
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Ventriculomegaly ORPHA:324416
Noonan Syndrome 3
Juvenile myelomonocytic leukemia, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Pate... OMIM:609942
Noonan Syndrome 11
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:618499
Aortic Valve Disease 2
Aortic regurgitation, Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Co... OMIM:614823
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Splenomegaly, Webbed neck, Venous malformation, Spinal dysraphism OMIM:612918
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Splenomegaly, Patent ductus... ORPHA:251066
Brachytelephalangic Chondrodysplasia Punctata
Recurrent respiratory infections, Ventricular septal defect, Optic nerve hypoplasia, Pulmonary ar... ORPHA:79345
Buratti-Harel Syndrome
Dilation of Virchow-Robin spaces, Hypospadias, Cryptorchidism, Recurrent pneumonia, Atrial septal... OMIM:619314
Kaufman Oculocerebrofacial Syndrome
Optic disc pallor, Ventricular septal defect, Sparse eyebrow, Coarctation of aorta, Hypoplastic l... OMIM:244450
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Hepatomegaly, Recurrent respiratory infections, Optic atrophy, Facial hirsutism, Atrial septal de... OMIM:619383
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Tetrasomy 15Q26
Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch OMIM:614846
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventricular septal defect, Ventriculomegaly OMIM:602501
H Syndrome
Abnormal eyebrow morphology, Alopecia, Histiocytosis, Psoriasiform dermatitis, Microcytic anemia,... ORPHA:168569
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect ORPHA:52056
Lowry-Maclean Syndrome
Bilateral cryptorchidism, Atrioventricular canal defect, Hypospadias, Hydrocephalus ORPHA:2409
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Optic disc pallor, Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgit... OMIM:619167
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Thick eyebrow, Ventricular septal defect, Patent ductus arteriosus, Synophrys, Low anterior hairl... OMIM:617061
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Medial flaring of the eyebrow, Tricuspid regurgitation, Sparse eyel... OMIM:612863
Kapur-Toriello Syndrome
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Low posterior hairline, Hypo... OMIM:244300
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Ventricular septal defect, Eosinophilia, Spina bifida, Edema of the ... OMIM:274000
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Pancytopenia, Dextrocardia, Megaloblastic anemia, Thrombocytopenia, Patent ductus a... OMIM:277380
Noonan Syndrome 4
Curly hair, Ventricular septal defect, Polyhydramnios, Sparse eyebrow, Cryptorchidism, High anter... OMIM:610733
Cranioectodermal Dysplasia 2
Cholangitis, Polyhydramnios, Hydrops fetalis, Renal cyst, Sparse hair, Atrial septal defect, Pate... OMIM:613610
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Abnormality of male external genitalia, Abnormal external genitalia, Hypospad... ORPHA:95699
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Tachycardia, Ventricular sept... ORPHA:26793
Ovarian Fibroma
Mesenteric cyst, Ovarian fibroma, Peritonitis, Gonadal calcification, Pleural effusion, Ascites, ... ORPHA:314473
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arterio... ORPHA:163979
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Ventricular septal defect, Hypospadias, Precocious puberty, Cryptorchidism,... ORPHA:254346
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Multicystic kidney dysplasia, Ambiguous genitalia, Vaginal neoplasm, Polyhy... ORPHA:1052
Whipple Disease
Pericarditis, Cachexia, Myocarditis, Hydrocephalus, Erectile dysfunction ORPHA:3452
Diamond-Blackfan Anemia 7
Macrocytic anemia, Ventricular septal defect, Polyhydramnios, Secundum atrial septal defect, Pate... OMIM:612562
Bloom Syndrome
Male infertility, Premature ovarian insufficiency, Small for gestational age, Oligozoospermia, Az... ORPHA:125
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Cryptorchidism, Hydrocephalus, Abnormal heart morphology ORPHA:1865
Contractural Arachnodactyly, Congenital
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse... OMIM:121050
Unilateral Polymicrogyria
Epistaxis, Pulmonary arteriovenous malformation, Abnormal heart morphology, Stroke, Giant somatos... ORPHA:268943
Even-Plus Syndrome
Highly arched eyebrow, Synophrys, Sparse hair, Atrial septal defect, Patent foramen ovale, Oligoh... OMIM:616854
Oculoectodermal Syndrome
Transient ischemic attack, Supernumerary nipple, Lymphedema, Patent ductus arteriosus, Coarctatio... OMIM:600268
Clapo Syndrome
Lymphedema, Varicose veins, Lymphangioma, Ganglioneuroma, Venous malformation ORPHA:168984
Intellectual Disability-Strabismus Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Polyhydramnios, Highly arched... ORPHA:363528
Monosomy 18Q
Absence of the pulmonary valve, Bilateral cryptorchidism, Secundum atrial septal defect, Hydrocep... ORPHA:1600
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bicuspid aortic valve, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, ... ORPHA:1772
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Abnormal hair whorl, Optic atrophy, Atrial septal defect, Patent foram... OMIM:614261
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis OMIM:610333
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus ORPHA:1516
Krabbe Disease
Hydrocephalus, Failure to thrive, Increased CSF protein concentration OMIM:245200
Lymphatic Malformation 13
Nonimmune hydrops fetalis, Lymphedema, Patent ductus arteriosus, Hydrocele testis, Mitral regurgi... OMIM:620244
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Pneumonia, Polyhydramnios, Cryptorchidism,... OMIM:603467
Wiedemann-Steiner Syndrome
Elbow hypertrichosis, Brow ptosis, Broad lateral eyebrow, Thick hair, Highly arched eyebrow, Cryp... OMIM:605130
Diamond-Blackfan Anemia
Radial artery aplasia, Pure red cell aplasia, Low anterior hairline, Reticulocytopenia, Leukopeni... ORPHA:124
Coffin-Siris Syndrome 5
Sparse scalp hair, Thick eyebrow, Low anterior hairline, Long eyelashes, Atrial septal defect, Dy... OMIM:616938
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus, Obesity OMIM:616521
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Dilated cardiomyopathy, Ventriculomegaly ORPHA:272
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus OMIM:615599
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Cryptorchidism, Hypoplasia of penis, Hydrocephalus, Ventriculomegaly ORPHA:1812
Walker-Warburg Syndrome
Hypoplasia of penis, Ventriculomegaly, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation ORPHA:899
Familial Visceral Myopathy
Aganglionic megacolon, Umbilical hernia, Hyperparathyroidism, Abdominal situs inversus ORPHA:2604
Thanatophoric Dysplasia Type 1
Polyhydramnios, Increased nuchal translucency, Patent ductus arteriosus, Aplasia/Hypoplasia of th... ORPHA:1860
Alagille Syndrome 1
Elevated hepatic transaminase, Ventricular septal defect, Hepatocellular carcinoma, Hepatic failu... OMIM:118450
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus OMIM:618174
Noonan Syndrome 13
Highly arched eyebrow, Lymphedema, Cryptorchidism, Mitral valve prolapse, Low posterior hairline,... OMIM:619087
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, M... ORPHA:555877
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Atrial septal defect, Aganglionic megacolon, Peripheral pulmonary artery stenosis OMIM:614749
Developmental And Epileptic Encephalopathy 18
Aortic regurgitation, Highly arched eyebrow, Polyhydramnios, Atrial septal defect, Oligohydramnios OMIM:615476
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Stillbirth, Abnormal heart morphology OMIM:276950
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Chromosome 10Q26 Deletion Syndrome
Omphalocele, Small scrotum, Cryptorchidism, Patent ductus arteriosus, Low posterior hairline, Web... OMIM:609625
Abruzzo-Erickson Syndrome
Atrial septal defect, Cryptorchidism, Hypospadias, Coronal hypospadias ORPHA:921
Gracile Bone Dysplasia
Micropenis, Failure to thrive, Hydrocephalus OMIM:602361
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Dilated cardiomyopathy, Optic atrophy, Myocardial fibrosis, Transposition of the g... OMIM:253800
Beta-Mercaptolactate Cysteine Disulfiduria
Atrial septal defect, Umbilical hernia ORPHA:1035
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Ascending tubular aorta aneurysm, Macroorchidism, Ventricular septal defect OMIM:309520
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Coronary artery fistula, Neo... OMIM:620024
Craniofacioskeletal Syndrome
Absent gallbladder, Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arterio... OMIM:300712
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Atrial septal defect, Congestive heart failure, Highly arched eyebrow, Polyhydramnios ORPHA:500533
Renal Nutcracker Syndrome
Orthostatic hypotension, Tachycardia, Vulval varicose vein, Varicose veins, Syncope, Renal artery... ORPHA:71273
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:614262
Wolf-Hirschhorn Syndrome
Recurrent respiratory infections, Abnormal heart valve morphology, Hypospadias, Highly arched eye... ORPHA:280
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Gastroin... OMIM:600376
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Hydrocephalus, Vaginal atresia ORPHA:3301
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Recurrent lower respiratory tract infections, Bicuspid aortic valve OMIM:617744
Tarp Syndrome
Extramedullary hematopoiesis, Abnormal hair pattern, Cryptorchidism, Optic atrophy, Pulmonary hyp... ORPHA:2886
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... OMIM:613795
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:613153
Restrictive Dermopathy
Atrial septal defect, Hypospadias, Dextrocardia, Polyhydramnios, Short nail, Aplasia/Hypoplastia ... ORPHA:1662
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Clitoral hypertrophy, Bicuspid aortic valve, Septate vagina, Valvular pulmonary stenosis, Bicornu... OMIM:300707
Alzahrani-Kuwahara Syndrome
Optic disc pallor, Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement,... OMIM:619268
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hypertension, C... OMIM:620005
Robinow Syndrome, Autosomal Dominant 3
Omphalocele, Tricuspid regurgitation, Hypoplastic right heart, Ventricular septal defect, Cryptor... OMIM:616894
Parkes Weber Syndrome
Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V... ORPHA:90307
Shashi-Pena Syndrome
Dilation of Virchow-Robin spaces, Highly arched eyebrow, Patent ductus arteriosus, Synophrys, Lon... OMIM:617190
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Small scrotum, Pericardial effusion, Hydrocephalus, Micropenis, Dandy-Walker ma... OMIM:617822
Ovarian Fibrothecoma
Ovarian fibroma, Peritonitis, Abnormal endometrium morphology, Gonadal calcification, Pleural eff... ORPHA:314478
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Medial calcification of large arteries, Autoimmune thrombocytopenia,... ORPHA:391487
Contractures-Developmental Delay-Pierre Robin Syndrome
Atrial septal defect, Inguinal hernia, Hypospadias, Peripheral pulmonary artery stenosis ORPHA:436003
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Myocardial infarction, Lymphedema, Webbed neck, Hepatic fibrosis, Atrial s... ORPHA:99413
Mosaic Monosomy X
Bicuspid aortic valve, Myocardial infarction, Lymphedema, Webbed neck, Hepatic fibrosis, Atrial s... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Myocardial infarction, Lymphedema, Webbed neck, Hepatic fibrosis, Atrial s... ORPHA:99226
Turner Syndrome
Bicuspid aortic valve, Myocardial infarction, Lymphedema, Webbed neck, Hepatic fibrosis, Atrial s... ORPHA:881
Coccidioidomycosis
Abnormal sperm morphology, Pericarditis, CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocyt... ORPHA:228123
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Aortic valve stenosis, Hydrocephalus, Dandy-Walker malformation OMIM:220220
Coffin-Siris Syndrome
Atrial septal defect, Sparse scalp hair, Thick eyebrow, Ventricular septal defect, Hypospadias, C... ORPHA:1465
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cardiomyopathy, Hydrocephalus OMIM:613155
Temple-Baraitser Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:611816
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Branchial fistula, Recurrent respiratory infections, Inguinal hernia, Ventr... ORPHA:261330
Autosomal Recessive Robinow Syndrome
Recurrent respiratory infections, Alopecia, Multicystic kidney dysplasia, Ventricular septal defe... ORPHA:1507
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Bifid scrotum, Cryptorchidism, Hydrocephalus, Prominent scrotal raphe ORPHA:1555
Jacobsen Syndrome
Hypospadias, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Clitoral hypoplasia, Holop... OMIM:147791
Endocrine-Cerebroosteodysplasia
Small scrotum, Hypospadias, Cryptorchidism, Hydrocephalus, Sex reversal, Microphallus, Holoprosen... OMIM:612651
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Megalencephaly
Atrial septal defect, Macroorchidism, Long penis ORPHA:2477
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Laterally extended eyebrow, Thick eyebrow, Ventricular septal defect, Bicuspid aortic valve, High... OMIM:610759
Kabuki Syndrome 2
Highly arched eyebrow, Coarctation of aorta, Long eyelashes, Pulmonic stenosis, Atrial septal def... OMIM:300867
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated hepatic transaminase, Atrial septal defect, Decreased liver function OMIM:615160
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele ORPHA:1528
Hemihyperplasia-Multiple Lipomatosis Syndrome
Abnormal venous morphology, Telangiectasia of the skin, Abnormal cerebral vascular morphology, Ab... ORPHA:276280
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Abnormal cardiac ... ORPHA:2166
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Hypospadias, Ventricular septal defect, Ovotestis, Hydrocephalus, Hypoplasia of... OMIM:309801
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Atrial septal defect, Cryptorchidism, Patent ductus arteriosus, Patent foramen ovale OMIM:620327
Ehlers-Danlos Syndrome, Vascular Type
Nodular pattern on pulmonary HRCT, Uterine rupture, Emphysema, Repeated pneumothoraces, Cryptorch... OMIM:130050
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus, Bicuspid aortic valve ORPHA:397951
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Failure to thrive, Abnormal cardiac septum morphology, Hydrocephalus ORPHA:250989
Robinow Syndrome
Multicystic kidney dysplasia, Small scrotum, Ventricular septal defect, External genital hypoplas... ORPHA:97360
Menkes Disease
Gastrointestinal hemorrhage, Hypopigmentation of hair, Inguinal hernia, Venous insufficiency, Woo... ORPHA:565
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Patent ductus arteriosus, Varicose veins, Abnormality of the... ORPHA:33001
Degcags Syndrome
Polyhydramnios, Synophrys, Low anterior hairline, Premature graying of hair, Leukopenia, Iron def... OMIM:619488
Formiminoglutamic Aciduria
Atrial septal defect, Anemia, Megaloblastic anemia ORPHA:51208
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Abnormal lung lobation, Renal cyst, Atrial septal defect, Micropeni... OMIM:270400
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Polyhydramnios, Patent ductus arteriosus, Neutropenia, Atrial septal defect, Recurrent lower resp... OMIM:618005
Bohring-Opitz Syndrome
Ventricular septal defect, Thick hair, Supernumerary nipple, Polyhydramnios, Delayed peripheral m... OMIM:605039
7Q11.23 Microduplication Syndrome
Inguinal hernia, Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arteriosus... ORPHA:96121
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Atrial septal defect OMIM:620094
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Neonatal death, Uterine leiomyoma, Irregular menstruation, Hydrocephalus OMIM:616482
Immunodeficiency 87 And Autoimmunity
Atrial septal defect, Atrioventricular canal defect, Hepatic steatosis, Decreased proportion of C... OMIM:619573
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph... OMIM:601596
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Dilation of Virchow-Robin spaces, Bicuspid aortic valve, Sparse eyebrow, Low anterior hairline, L... OMIM:619720
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Spondylodysplastic Ehlers-Danlos Syndrome
Prominent scalp veins, Agenesis of pineal gland, Sparse scalp hair, Abnormal heart valve morpholo... ORPHA:536471
Lateral Meningocele Syndrome
Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Hydrocephalus, Meningocele OMIM:130720
Fontaine Progeroid Syndrome
Small scrotum, Bicuspid aortic valve, Synophrys, Low anterior hairline, Coarse hair, Atrial septa... OMIM:612289
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Optic nerve hypoplasia, Decreased response to growth hormone stimulati... OMIM:609053
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... OMIM:610168
17Q23.1Q23.2 Microdeletion Syndrome
Highly arched eyebrow, Patent ductus arteriosus, Long eyelashes, Shawl scrotum, Atrial septal def... ORPHA:261279
Coffin-Siris Syndrome 4
Atrial septal defect, Sparse scalp hair, Ventricular septal defect, Mitral atresia, Patent ductus... OMIM:614609
Koolen-De Vries Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormality of hair texture, Cryptorchidism, Pa... OMIM:610443
Bardet-Biedl Syndrome 1
Decreased testicular size, Aganglionic megacolon, Biliary tract abnormality, Hypertension, Hepati... OMIM:209900
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventricular septal defect, Obesity, Ventriculomegaly OMIM:615630
Trisomy 17P
Hypoplasia of penis, Hypoplastic left heart, Aortic valve stenosis, Hydrocephalus ORPHA:261290
20P12.3 Microdeletion Syndrome
Wolff-Parkinson-White syndrome, Atrial septal defect ORPHA:261295
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular septal defect, Hy... OMIM:163950
Juvenile Polyposis Syndrome
Neoplasm of the pancreas, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Transien... ORPHA:2929
Frontoocular Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:605321
Laurin-Sandrow Syndrome
Cryptorchidism, Hydrocephalus ORPHA:2378
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Cardiofaciocutaneous Syndrome
Brittle hair, Abnormal heart valve morphology, Slow-growing hair, Lymphedema, Abnormal eyelash mo... ORPHA:1340
Acrodysostosis 1 With Or Without Hormone Resistance
Small for gestational age, Cryptorchidism, Hydrocephalus, Irregular menstruation, Hypogonadism OMIM:101800
Specc1L-Related Hypertelorism Syndrome
Omphalocele, Ventricular septal defect, Highly arched eyebrow, Cryptorchidism, Patent ductus arte... ORPHA:1519
Fryns Syndrome
Omphalocele, Bifid scrotum, Ectopic pancreatic tissue, Aganglionic megacolon, Ventricular septal ... OMIM:229850
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Alopecia, Eosinophilia, Recurrent pneumonia, Bronchiectasis, Pu... OMIM:618282
Duane-Radial Ray Syndrome
Aganglionic megacolon, Facial palsy, Ventricular septal defect, Atrial septal defect, Spina bifid... OMIM:607323
Smith-Lemli-Opitz Syndrome
Clitoral hypertrophy, Hypopigmentation of hair, Multicystic kidney dysplasia, Aganglionic megacol... ORPHA:818
Rhombencephalosynapsis
Hydrocephalus, Abnormality of the uterus, Ventriculomegaly ORPHA:59315
Edinburgh Malformation Syndrome
Hydrocephalus, Failure to thrive ORPHA:1895
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:163961
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocele testis, Hydrocephalus, Ventriculomegaly OMIM:613603
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Pulmona... OMIM:610655
Thoracoabdominal Syndrome
Hypospadias, Hydrocephalus, Anencephaly, Transposition of the great arteries, Ectopia cordis OMIM:313850
White Forelock With Malformations
Atrial septal defect, Spina bifida occulta, White forelock ORPHA:2475
Charge Syndrome
Decreased response to growth hormone stimulation test, Polyhydramnios, External genital hypoplasi... OMIM:214800
Atrial Septal Defect 6
Atrial septal defect, Atrial fibrillation, Bradycardia OMIM:613087
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Ventriculomegaly OMIM:304100
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Peripheral axonal neuropathy, Curly hair, Slow-growing hair, Polyhydramnios, Abse... OMIM:115150
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Recurrent respiratory infections, Atrial septal defect, Ventricular septal defect, Decreased resp... OMIM:610978
Thauvin-Robinet-Faivre Syndrome
Inguinal hernia, Transient neutropenia, Ventricular septal defect, Pedal edema, Mitral valve prol... OMIM:617107
Vacterl With Hydrocephalus
Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Abnormal fallopian tube morphology ORPHA:3412
Loeys-Dietz Syndrome 5
Inguinal hernia, Ventricular septal defect, Hiatus hernia, Aortic root aneurysm, Mitral regurgita... OMIM:615582
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Ventricular septal defect, Highly arched eyebrow, Cryptorchidism, Long eyelashes, Atrial septal d... OMIM:617452
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus, Hypoplastic labia majora, Atrial septal defect, Vaginal atresia, Fused labia minora OMIM:207410
Floating-Harbor Syndrome
Inguinal hernia, Hypospadias, Cryptorchidism, Glandular hypospadias, Coarctation of aorta, Low po... OMIM:136140
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Atrial septal defect, Polyhydramnios OMIM:611087
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus ORPHA:380
Aortic Valve Disease 1
Bicuspid aortic valve, Mitral stenosis, Ventricular septal defect, Mitral atresia, Aortic valve c... OMIM:109730
Ramos-Arroyo Syndrome
Sparse scalp hair, Aganglionic megacolon, Patent ductus arteriosus, Xerostomia, Abnormal autonomi... ORPHA:1051
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Burn-Mckeown Syndrome
Atrial septal defect, Inguinal hernia, Ventricular septal defect OMIM:608572
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ambiguous genitalia, Tricuspid regurgitation, Pancreatic fibrosis, Ventricular septal defect, Hyd... OMIM:263520
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Hiatus hernia, Abnormality of the spleen, Abnormal lu... ORPHA:2538
Diamond-Blackfan Anemia 1
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... OMIM:105650
Osteogenesis Imperfecta, Type Vii
Absent pulmonary artery, Hypoplastic pulmonary veins OMIM:610682
Spondyloepimetaphyseal Dysplasia, Krakow Type
Atrial septal defect, Patent ductus arteriosus, Annular pancreas OMIM:618162
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Atrial septal defect, Frontal encephalocele ORPHA:521308
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus, Small for gestational age OMIM:613330
Tetrasomy 9P
Pericarditis, Dextrocardia, Cryptorchidism, Hydrocephalus, Oligozoospermia, Abnormal cardiac sept... ORPHA:3310
Carney Complex
Ovarian dermoid cyst, Sertoli cell neoplasm, Abnormal sperm motility, Testicular neoplasm, Precoc... ORPHA:1359
Osteopathia Striata With Cranial Sclerosis
Omphalocele, Multicystic kidney dysplasia, Ventricular septal defect, Facial palsy, Polyhydramnio... OMIM:300373
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus, Rectovaginal fistula, Perineal fistula ORPHA:3016
Neurooculorenal Syndrome
Dextrocardia, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Mitral valve prolapse, Tetralog... OMIM:620305
Fraser Syndrome 3
Hypoplasia of penis, Small scrotum, Stillbirth, Hydrocephalus OMIM:617667
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Curly hair, Sparse eyebrow, Synophrys, Hyposegmentation of neutrophil nuclei, Sparse hair, Atrial... OMIM:620075
Mend Syndrome
Cryptorchidism, Hydrocephalus, Abnormal heart morphology, Aortic valve stenosis, Failure to thriv... ORPHA:401973
3Mc Syndrome 1
Conjunctival telangiectasia, Omphalocele, Ventricular septal defect, Supernumerary nipple, Highly... OMIM:257920
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Recurrent respiratory infections, Hypoparathyroidism, Ventricular septal defe... ORPHA:209905
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Hypoplastic male external genital... OMIM:608091
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Ventricular septal defect, Highly arched eyebrow, Cryptorchidism, Long eyelashes, Atrial septal d... ORPHA:505237
Homozygous Familial Hypercholesterolemia
Precocious atherosclerosis, Myocardial infarction, Abnormal internal carotid artery morphology, A... ORPHA:391665
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Curly hair, Ventricular septal defect, Highly arched eyebrow, Polyhydramnios, Low posterior hairl... OMIM:617360
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Inguinal hernia, Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Low posterior hairli... OMIM:245600
Pelvis-Shoulder Dysplasia
Ambiguous genitalia, Hydrocephalus, Hydranencephaly, Spina bifida ORPHA:2839
Marshall-Smith Syndrome
Brittle hair, Bilateral cryptorchidism, Synophrys, Aspiration pneumonia, Sparse hair, Atrial sept... OMIM:602535
Fanconi Anemia, Complementation Group A
Male infertility, Small for gestational age, Hypergonadotropic hypogonadism, Cryptorchidism, Abno... OMIM:227650
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Hepatomegaly, Bundle branch block, Atrial septal defect, Ventricular septa... ORPHA:373
Foix-Alajouanine Syndrome
Myelopathy, Cervical myelopathy, Arteriovenous fistula, Venous malformation ORPHA:79093
Ctcf-Related Neurodevelopmental Disorder
Inguinal hernia, Highly arched eyebrow, Phimosis, Cryptorchidism, Patent ductus arteriosus, Synop... ORPHA:363611
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent respiratory infections, Alopecia, Bicuspid aortic valve, Ventricular septal defect, Spi... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent respiratory infections, Alopecia, Bicuspid aortic valve, Ventricular septal defect, Spi... ORPHA:363958
Basel-Vanagaite-Smirin-Yosef Syndrome
Inguinal hernia, Ventricular septal defect, Hypospadias, Recurrent pneumonia, Sparse hair, Atrial... OMIM:616449
Ciliary Dyskinesia, Primary, 43
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Abdom... OMIM:618699
Noonan Syndrome 7
Curly hair, Low posterior hairline, Pulmonic stenosis, Webbed neck, Atrial septal defect, Hypertr... OMIM:613706
B4Galt1-Cdg
Hydrocephalus, Small for gestational age, Dandy-Walker malformation ORPHA:79332
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Colpocephaly, Hydrocephalus, Failure to thrive, Ventriculomegaly OMIM:619833
Intellectual Developmental Disorder, Autosomal Recessive 65
Inguinal hernia, Hypospadias, Supernumerary nipple, Secundum atrial septal defect, Cryptorchidism... OMIM:618109
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Colonic Atresia
Omphalocele, Abnormal mesentery morphology, Abdominal situs inversus, Gastroschisis ORPHA:1198
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus, Abnormal morphology of female internal genitalia ORPHA:1834
Distal Deletion 10Q
Patent ductus arteriosus, Widow's peak, Facial diplegia, Atrial septal defect, Spina bifida occulta ORPHA:96148
Meckel Syndrome, Type 6
Abnormal internal genitalia, Occipital encephalocele, Anencephaly, Hydrocephalus OMIM:612284
Insulin-Like Growth Factor I, Resistance To
Sparse scalp hair, Ventricular septal defect, Highly arched eyebrow, Synophrys, Webbed neck, Atri... OMIM:270450
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Hypogonadotropic hypogonadism, Pulmonary artery stenosis, Spina bifida... OMIM:301030
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Optic nerve hypoplasia, Ventricular septal defect, Supernumerary nipple, C... ORPHA:453504
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect, Precocious puberty OMIM:619356
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Optic nerve hypoplasia, Ventricular septal defect, Supernumerary nipple, C... ORPHA:352665
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect OMIM:113301
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Patent foramen ovale, Patent ductus arteriosus, Increased nuchal translucency, Synophrys, Hydroce... ORPHA:280633
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Inguinal hernia, Abnormal mitral valve morphology, Atrial septal defect, Umbilical hernia, High a... ORPHA:1292
Lipodystrophy, Familial Partial, Type 7
Sparse scalp hair, Orthostatic hypotension, Spontaneous pneumothorax, Pulmonary arteriovenous mal... OMIM:606721
Kabuki Syndrome
Hypoplasia of penis, Hypospadias, Precocious puberty, Cryptorchidism, Hydrocephalus, Obesity, Abn... ORPHA:2322
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Cardiomyopathy, Ventriculomegaly ORPHA:370959
17Q12 Microduplication Syndrome
Atrial septal defect, Synophrys, Polyhydramnios ORPHA:261272
Chromosome 17P13.1 Deletion Syndrome
Hydrocele testis, Hydrocephalus, Spina bifida OMIM:613776
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Prominent superficial veins, Tricuspid regurgitation, Bilateral cryptorchid... OMIM:617402
Lujan-Fryns Syndrome
Atrial septal defect, Macroorchidism ORPHA:776
White-Sutton Syndrome
Optic nerve hypoplasia, Patent ductus arteriosus, Sparse hair, Atrial septal defect, Patent foram... OMIM:616364
Developmental And Epileptic Encephalopathy 90
Atrial septal defect OMIM:301058
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Fanconi Anemia, Complementation Group D2
Small for gestational age, Hypergonadotropic hypogonadism, Cryptorchidism, Hydrocephalus, Abnorma... OMIM:227646
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Cryptorchidism, Mitral valve prolapse, Abnormal aortic valve morphol... ORPHA:2462
Neu-Laxova Syndrome 1
Hydranencephaly, Ventricular septal defect, Polyhydramnios, Spina bifida, Absent eyelashes, Crypt... OMIM:256520
Zechi-Ceide Syndrome
Atrial septal defect, Thick hair, Abnormal heart morphology ORPHA:217017
Gonadoblastoma
Hirsutism, Gonadal calcification, Dysgerminoma, Gonadal dysgenesis with female appearance, male, ... ORPHA:206484
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Curly hair, Sparse scalp hair, Inguinal hernia, Ventricular septal defect, ... OMIM:607721
Mend Syndrome
Cryptorchidism, Hydrocephalus, Aortic valve stenosis, Failure to thrive, Dandy-Walker malformation OMIM:300960
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Rectoperineal fistula, Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Hypoplast... OMIM:618748
Loeys-Dietz Syndrome 1
Atrial septal defect, Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneur... OMIM:609192
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Omphalocele, Hepatomegaly, Atrial septal defect, Ventricular septal defect, External genital hypo... ORPHA:96334
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Ventriculomegaly, Meningoencephalocele, Cryptorchidism, Hydrocephalus, H... OMIM:236670
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Inguinal hernia, Ventricular septal defect, Hypospadias, Polyhydramnios, Cryptorchidism, Dilatati... ORPHA:459070
Oeis Complex
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Mye... OMIM:258040
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Recurrent respiratory infections, Ventricular septal defect, Polyhydramnios, ... ORPHA:3047
Restrictive Dermopathy 1
Sparse eyelashes, Short nail, Polyhydramnios, Epidermal hyperkeratosis, Absent eyelashes, Sparse ... OMIM:275210
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Polyhydramnios, Patent ductus arteriosus, Hydrocele testis, Pulmonary hypoplasia, Atrial septal d... OMIM:614080
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Brittle hair, Hypospadias, Fine hair, Aortic root aneurysm, Chordee, Sparse hair, Atrial septal d... OMIM:618891
7Q31 Microdeletion Syndrome
Atrial septal defect, Recurrent respiratory infections, Patent ductus arteriosus after birth at term ORPHA:251061
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Atrial septal defect, Hypoplastic left heart, Bicuspid aortic valve, Sparse hair OMIM:619721
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Inguinal hernia, Decreased response to growth hormone stimulation test, Polyhydramnios, Supernume... OMIM:213980
Cutis Laxa, Autosomal Recessive, Type Iid
Inguinal hernia, Hypoplastic right heart, Bilateral cryptorchidism, Congestive heart failure, Pne... OMIM:617403
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Transient neutropenia, Ventricular septal defect, Chronic neutropen... ORPHA:500095
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus ORPHA:1914
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus, Failure to thrive OMIM:620157
Microphthalmia, Syndromic 2
Ventricular septal defect, Dextrocardia, Hypospadias, Septate vagina, Cryptorchidism, Patent duct... OMIM:300166
Hyperinsulinemic Hypoglycemia, Familial, 8
Atrial septal defect OMIM:620211
Larsen Syndrome
Ventricular septal defect, Short nail, Cryptorchidism, Atrial septal defect, Spina bifida occulta... OMIM:150250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... OMIM:615287
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Recurrent respiratory infections, Patent ductus arteriosus, Atrial septal defect, Unilateral brea... OMIM:300968
Omodysplasia 1
Ventricular septal defect, Cryptorchidism, Pulmonary artery stenosis, Atrial septal defect, Umbil... OMIM:258315
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus, Obesity ORPHA:2180
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Recurrent respiratory infections, Absent nipple, Aplasia of the thymus, Facial pa... OMIM:620186
Trisomy 18
Omphalocele, Ventricular septal defect, Spina bifida, Cryptorchidism, Anencephaly, Webbed neck, A... ORPHA:3380
Pallister-Hall Syndrome
Small scrotum, Abnormal lung lobation, Gonadotropin deficiency, Atrial septal defect, Atrioventri... ORPHA:672
Costello Syndrome
Curly hair, Ventricular septal defect, Polyhydramnios, Pneumothorax, Mitral valve prolapse, Hyper... OMIM:218040
Waardenburg Syndrome Type 3
Atrial septal defect, Atelectasis, White hair, Thick eyebrow ORPHA:896
Myhre Syndrome
Ventricular septal defect, Pericardial effusion, Cryptorchidism, Patent ductus arteriosus, Coarct... OMIM:139210
Exstrophy-Epispadias Complex
Bifid scrotum, Spina bifida, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal tra... ORPHA:322
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Refractory anemia, Patent ductus arteriosus, Abnormal heart morpholo... ORPHA:79076
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus, Bifid uterus ORPHA:2736
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Polyhydramnios, Microvesicular hepatic steatosis, Patent ductus arteriosus, Hydrops... OMIM:300868
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Myocardial inf... ORPHA:904
Al-Raqad Syndrome
Atrial septal defect OMIM:616459
Bilateral Polymicrogyria
Facial diplegia, Abnormal glossopharyngeal nerve morphology ORPHA:268940
Holoprosencephaly
Encephalocele, Hypoplasia of penis, Ventricular septal defect, Abnormal pulmonary valve morpholog... ORPHA:2162
Hypoplasminogenemia
Cervicitis, Hydrocephalus, Abnormal fallopian tube morphology, Abnormality of the ovary, Dandy-Wa... ORPHA:722
Otopalatodigital Syndrome Type 2
Encephalocele, Abnormal heart valve morphology, Hypospadias, Myelomeningocele, Hydrocephalus, Abn... ORPHA:90652
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Uterine prolapse, Bicuspid aortic valve, Ventricular septal defect, Precocious... ORPHA:438213
Zttk Syndrome
Aortic regurgitation, Absent gallbladder, Curly hair, Unilateral lung agenesis, Ventricular septa... OMIM:617140
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Failure to thrive, Hypospadias, Epispadias, Male pseudohermaphroditism... ORPHA:2556
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Polyhydramnios, Right ventricular dilatation, At... OMIM:619472
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Precocious puberty, Patent ductus arteriosus, Abnormal lung lobation, Renal c... ORPHA:369837
Hogue-Janssen Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:616362
Beare-Stevenson Cutis Gyrata Syndrome
Bifid scrotum, Hypospadias, Hydrocephalus, Hypoplastic labia majora, Prominent scrotal raphe, Ven... OMIM:123790
15Q14 Microdeletion Syndrome
Atrial septal defect, Inguinal hernia, Ventricular septal defect ORPHA:261190
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Atrial septal defect, Failure to thrive OMIM:619512
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Varicose veins, Venous malformation, Lymphedema OMIM:613089
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation OMIM:614219
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ventricular septal defect, Bicuspid aortic valve, Supernumerary nipple, Abnormal heart morphology... ORPHA:457279
Hamamy Syndrome
Hypoparathyroidism, Inguinal hernia, Prolonged QRS complex, Sparse eyelashes, Microcytic anemia, ... OMIM:611174
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly ORPHA:2182
Shprintzen-Goldberg Craniosynostosis Syndrome
Cryptorchidism, Hydrocephalus, Mitral valve prolapse OMIM:182212
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, He... ORPHA:402075
Coach Syndrome 2
Hydrocephalus OMIM:619111
Methylcobalamin Deficiency Type Cble
Hydrocephalus, Failure to thrive, Ventriculomegaly ORPHA:2169
Vascular Ehlers-Danlos Syndrome
Uterine rupture, Internal hemorrhage, Alopecia, Peripheral arteriovenous fistula, Hypospadias, Ab... ORPHA:286
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Apert Syndrome
Overriding aorta, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Vaginal atresia, Vent... OMIM:101200
Opitz-Kaveggia Syndrome
Cryptorchidism, Hydrocephalus, Hypospadias, Abnormal heart morphology OMIM:305450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Failure to thrive, Ventriculomegaly ORPHA:60040
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Anencephaly, Atrial septal defect, Occipital meningocele, Micropenis, Ventriculome... OMIM:616546
Czeizel-Losonci Syndrome
Dextrocardia, Spina bifida, Hydrocephalus, Myelomeningocele, Spina bifida occulta ORPHA:2437
Yunis-Varon Syndrome
Sparse scalp hair, Ventricular septal defect, Sparse eyelashes, Polyhydramnios, Cardiomegaly, Spa... ORPHA:3472
Craniopharyngioma
Hypogonadism, Hydrocephalus, Hypogonadotropic hypogonadism, Obesity ORPHA:54595
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Sparse scalp hair, Inguinal hernia, Sparse eyebrow, Atrial septal defect, Aortic valve stenosis ORPHA:459061
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Edema, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular... ORPHA:70591
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Pulmonic stenosis OMIM:619239
Hajdu-Cheney Syndrome
Ventricular septal defect, Hypospadias, Cryptorchidism, Hydrocephalus, Failure to thrive OMIM:102500
Familial Cutaneous Collagenoma
Atrial septal defect, Congestive heart failure, Angina pectoris, Cardiomyopathy ORPHA:53296
Crouzon Syndrome
Hydrocephalus, Dysgerminoma OMIM:123500
Meier-Gorlin Syndrome 7
Ventricular septal defect, Hypospadias, Heart block, Complete atrioventricular canal defect, Cryp... OMIM:617063
Crouzon Syndrome
Hydrocephalus ORPHA:207
Magel2-Related Prader-Willi-Like Syndrome
Recurrent respiratory infections, Hypopigmentation of hair, Small scrotum, External genital hypop... ORPHA:398069
Hallermann-Streiff Syndrome
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Congestive heart failure... ORPHA:2108
Houge-Janssens Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:616355
Aymé-Gripp Syndrome
Pericarditis, Pericardial effusion, Cryptorchidism, Hydrocephalus, Ventriculomegaly ORPHA:1272
Genitopatellar Syndrome
Sparse scalp hair, Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Fine hair, Pulmon... ORPHA:85201
Hamel Cerebro-Palato-Cardiac Syndrome
Atrial septal defect ORPHA:93946
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Anteri... ORPHA:466791
Alexander Disease
Precocious puberty, Hydrocephalus, Failure to thrive, Aqueductal stenosis ORPHA:58
Aase-Smith Syndrome I
Hydrocephalus, Ventricular septal defect, Dandy-Walker malformation OMIM:147800
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Atrial septal defect, Ventriculomegaly,... OMIM:615219
Rabson-Mendenhall Syndrome
Enlarged ovaries, Clitoral hypertrophy, Ventricular septal defect, Thick hair, Precocious puberty... ORPHA:769
Chromosome 16P13.3 Duplication Syndrome
Inguinal hernia, Ventricular septal defect, Cryptorchidism, Synophrys, Low anterior hairline, Web... OMIM:613458
Arboleda-Tham Syndrome
Recurrent respiratory infections, Ventricular septal defect, Highly arched eyebrow, Secundum atri... OMIM:616268
Müllerian Aplasia And Hyperandrogenism
Thick eyebrow, Frontal balding, Synophrys, Hypoplasia of the uterus, Facial hirsutism, High anter... ORPHA:247768
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida OMIM:207950
Hb Bart'S Hydrops Fetalis
Pericarditis, Hydrocephalus ORPHA:163596
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Bicuspid aortic valve, Pneumonia, Cardiac conduction abnormalit... ORPHA:353281
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly OMIM:109120
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Atrichia, Neonatal death, Atrial septal defect, Dystrophic fingernails, Absent eyebrow, Alopecia,... OMIM:308205
Thanatophoric Dysplasia, Type I
Neonatal death, Hydrocephalus OMIM:187600
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Dandy-Walker malformation OMIM:614424
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hydrocephalus, Abdominal obesity, Hypoplasia of the ovary, Micropenis, Decreased testicular size OMIM:619321
Satoyoshi Syndrome
Abnormal hair morphology, Hypoplasia of the uterus, Sparse or absent eyelashes, Hypoplasia of the... ORPHA:3130
Adams-Oliver Syndrome
Encephalocele, Abnormal pulmonary valve morphology, Hydrocephalus, Tetralogy of Fallot, Failure t... ORPHA:974
2Q31.1 Microdeletion Syndrome
Inguinal hernia, Ventricular septal defect, Abnormal hair morphology, Cryptorchidism, Synophrys, ... ORPHA:251014
Axenfeld-Rieger Syndrome, Type 3
Atrial septal defect, Patent ductus arteriosus OMIM:602482
Lhermitte-Duclos Disease
Hydrocephalus, Ovarian neoplasm ORPHA:65285
Meckel Syndrome, Type 1
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, External genital hypoplasia,... OMIM:249000
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... OMIM:300967
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Williams-Beuren Syndrome
Medial flaring of the eyebrow, Inguinal hernia, Bicuspid aortic valve, Ventricular septal defect,... OMIM:194050
Mowat-Wilson Syndrome
Bifid scrotum, Aganglionic megacolon, Pulmonary artery sling, Ventricular septal defect, Supernum... OMIM:235730
Fetal Akinesia Deformation Sequence 1
Cryptorchidism, Hydrocephalus, Stillbirth, Small for gestational age OMIM:208150
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Hypospadias, External genital hypoplasia, Epispadias, Cryptorchidism, ... ORPHA:2658
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Optic disc pallor, Bicuspid aortic valve, Ventricular septal defect... OMIM:607872
Okamoto Syndrome
Facial hypertrichosis, Omphalocele, Ventricular septal defect, Bifid uterus, Splenomegaly, Abnorm... ORPHA:2729
Bdv Syndrome
Atrial septal defect, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism OMIM:619326
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Spinal dysraphism, Hypoplastic left heart, Aortic valve stenosis, Atrial septal defect, Mitral st... OMIM:617660
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Thakker-Donnai Syndrome
Communicating hydrocephalus, Ventricular septal defect, Rectovaginal fistula, Transposition of th... ORPHA:1780
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus, Endocardial fibroelastosis OMIM:600559
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Atrial septal defect, Inguinal hernia, Arterial rupture OMIM:619115
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Dextrocardia, Abnormal heart morphology, Abnormal aortic valve morp... ORPHA:261197
Cousin Syndrome
Hydranencephaly, Hydrocephalus, Ambiguous genitalia, female, Ambiguous genitalia, male OMIM:260660
Frank-Ter Haar Syndrome
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Atrial septal de... OMIM:249420
Dubowitz Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Abnormality of female external genitalia, Spina bifid... ORPHA:235
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus OMIM:307000
Glutaric Acidemia I
Hydrocephalus, Failure to thrive, Lateral ventricle dilatation OMIM:231670
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Bicuspid aortic valve, Pneumonia, Polyhydramnios, Cardiac condu... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Bicuspid aortic valve, Pneumonia, Polyhydramnios, Cardiac condu... ORPHA:353277
Bardet-Biedl Syndrome 20
Elevated hepatic transaminase, Papilledema, Bilateral cryptorchidism, Atrial septal defect, Male ... OMIM:619471
Cerebrooculonasal Syndrome
Encephalocele, Hydrocephalus, Hypoplastic male external genitalia, Dandy-Walker malformation, Ven... OMIM:605627
Monosomy 9Q22.3
Ovarian fibroma, Large for gestational age, Hydrocephalus, Cardiac fibroma, Ventriculomegaly ORPHA:77301
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus, Failure to thrive OMIM:612940
Floating-Harbor Syndrome
Hypospadias, Precocious puberty, Cryptorchidism, Tetralogy of Fallot, Renal cyst, Coarctation of ... ORPHA:2044
Limb Body Wall Complex
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Anencephaly, Abnormal h... ORPHA:2369
1Q44 Microdeletion Syndrome
Hydrocephalus, Abnormal cardiac septum morphology, Ventriculomegaly ORPHA:238769
Hypermobile Ehlers-Danlos Syndrome
Inguinal hernia, Venous insufficiency, Decreased nerve conduction velocity, Cystocele, Ascending ... ORPHA:285
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Brittle hair, Hypospadias, Atrial septal defect, Arrhythmia, Patent foramen ovale OMIM:619184
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Acquired Aneurysmal Subarachnoid Hemorrhage
Left ventricular hypertrophy, Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate ORPHA:90065
Sotos Syndrome
Inguinal hernia, Aganglionic megacolon, Ventricular septal defect, Hypospadias, Phimosis, Small c... ORPHA:821
Codas Syndrome
Omphalocele, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Rectovaginal fistula, Atr... OMIM:600373
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Ventricular septal defect, Hypospadias, Polyhydramnios, Enlarged labia minora, ... OMIM:268300
Pituitary Deficiency Due To Rathke Cleft Cysts
Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:91350
Neonatal Lupus Erythematosus
Hydrocephalus, Dilated cardiomyopathy, Abnormal heart morphology ORPHA:398124
Nephronophthisis 18
Hydrocephalus OMIM:615862
Diamond-Blackfan Anemia 4
Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Atrial septal defect OMIM:612527
Apert Syndrome
Hydrocephalus, Ventriculomegaly, Ovarian neoplasm ORPHA:87
Joubert Syndrome With Ocular Defect
Encephalocele, Hydrocephalus, Dextrocardia ORPHA:220493
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav... ORPHA:1055
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:225790
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Atrial septal defect, Cryptorchidism, Small scrotum, Heart murmur ORPHA:2728
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Peters-Plus Syndrome
Facial hypertrichosis, Hypoplasia of the vagina, Ventricular septal defect, Bilobate gallbladder,... OMIM:261540
Lethal Kniest-Like Dysplasia
Atrial septal defect, Polyhydramnios, Edema ORPHA:2347
Proximal Spinal Muscular Atrophy
Recurrent infections due to aspiration, Facial diplegia, Bradycardia, Atrial septal defect, Recur... ORPHA:70
Coffin-Siris Syndrome 1
Facial hypertrichosis, Recurrent respiratory infections, Sparse scalp hair, Dry hair, Ventricular... OMIM:135900
Kabuki Syndrome 1
Hemolytic anemia, Ventricular septal defect, Highly arched eyebrow, Autoimmune thrombocytopenia, ... OMIM:147920
Holoprosencephaly 14
Ventriculomegaly, Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Hydro... OMIM:619895
Vici Syndrome
Recurrent respiratory infections, Hypopigmentation of hair, Lymphopenia, Albinism, Congestive hea... OMIM:242840
Griscelli Syndrome
Encephalocele, Hydrocephalus ORPHA:381
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Cerebrocostomandibular Syndrome
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Renal cyst, Webbed neck, Atr... OMIM:117650
Histiocytoid Cardiomyopathy
Ventricular septal defect, Cardiomegaly, Hydrocephalus, Polycystic ovaries, Failure to thrive ORPHA:137675
Hemangioblastoma
Hydrocephalus ORPHA:252054
Holoprosencephaly 9
Cryptorchidism, Micropenis, Hydrocephalus, Holoprosencephaly OMIM:610829
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Ventriculomegaly, Colpocephaly OMIM:620156
Distal 22Q11.2 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Ventricular septal defect, Tricuspid valve prolapse ORPHA:261337
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus, Failure to thrive OMIM:259700
Progressive Non-Infectious Anterior Vertebral Fusion
Abdominal situs inversus ORPHA:2062
Microphthalmia With Limb Anomalies
Cryptorchidism, Hydrocephalus, Failure to thrive ORPHA:1106
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Melanonychia, Edema, Lymphedema, Abnormal eyelash morphology, Abnormal hair morphology, Optic atr... ORPHA:2526
Rabin-Pappas Syndrome
Hydrocephalus, Failure to thrive in infancy, Obesity OMIM:620155
Turnpenny-Fry Syndrome
Aortic regurgitation, Recurrent respiratory infections, Sparse scalp hair, Polyhydramnios, Patent... OMIM:618371
Tetrasomy 5P
Hydrocephalus, Failure to thrive ORPHA:3309
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal peripheral nerve morphology by anatomical site, Axonal degeneration, Abnormal sensory ne... ORPHA:88628
Fraser Syndrome 1
Encephalocele, Hypospadias, Cryptorchidism, Myelomeningocele, Hydrocephalus, Abnormal heart morph... OMIM:219000
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Curly hair, Unilateral lung agenesis, Transient ischemic attack, Optic nerve ... ORPHA:500150
Spondyloocular Syndrome
Unilateral cryptorchidism, Lymphedema, Mitral valve prolapse, Low posterior hairline, Webbed neck... OMIM:605822
Basal Cell Nevus Syndrome 1
Ovarian fibroma, Spina bifida, Hydrocephalus, Cardiac fibroma, Cardiac rhabdomyoma, Ovarian carci... OMIM:109400
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Orotic Aciduria
Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res... OMIM:258900
Intellectual Developmental Disorder, Autosomal Dominant 65
Noncommunicating hydrocephalus OMIM:619320
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Occipital Horn Syndrome
Inguinal hernia, Thick hair, Hiatus hernia, Venous insufficiency, Jaundice, Hepatitis, Cholestasi... ORPHA:198
Congenital Myopathy 22A, Classic
Neonatal death, Normal pressure hydrocephalus OMIM:620351
Achondroplasia
Hydrocephalus, Obesity ORPHA:15
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Aplasia of the vagina, Ventriculomegaly, Aplasia of the uterus ORPHA:457284
Muenke Syndrome
Hydrocephalus ORPHA:53271
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Bilateral cryptorchidism, Hydrocephalus, Hypogonadism ORPHA:3042
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Highly arched eyebrow, Thrombocytopenia, Sacral hypertrichosis, Atrial septal defect, Broad eyebrow ORPHA:457351
Pettigrew Syndrome
Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:304340
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Opt... OMIM:615948
Pseudoaminopterin Syndrome
Cryptorchidism, Hydrocephalus, Patent foramen ovale ORPHA:221120
21Q22.11Q22.12 Microdeletion Syndrome
Anemia, Nail dystrophy, Hypoplastic nipples, Atrial septal defect, Thrombocytopenia ORPHA:261323
Fetal Alcohol Syndrome
Atrial septal defect, Generalized hirsutism ORPHA:1915
16P13.11 Microdeletion Syndrome
Atrial septal defect, Cryptorchidism, Ventricular septal defect ORPHA:261236
Townes-Brocks Syndrome 1
Bifid scrotum, Rectoperineal fistula, Hypospadias, Ventricular septal defect, Small for gestation... OMIM:107480
Wolf-Hirschhorn Syndrome
Hypospadias, Ventricular septal defect, Small for gestational age, Precocious puberty, Cryptorchi... OMIM:194190
Cockayne Syndrome A
Cryptorchidism, Irregular menstruation, Normal pressure hydrocephalus, Hypogonadism, Micropenis, ... OMIM:216400
Congenital Sialidosis Type 2
Hydrocephalus, Abnormal heart morphology ORPHA:93400
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Ventricular septal defect OMIM:610536
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Failure to thrive, Ventricular septal defect, Overweight, Hydrocephalus, Lateral ventricle dilata... OMIM:619575
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Atrial septal defect, Aganglionic megacolon OMIM:614207
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:618476
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hydrocephalus, Abnormal heart morphology OMIM:239300
Pallister-Killian Syndrome
Edema of the dorsum of feet, Small scrotum, Polyhydramnios, Renal cyst, Sparse hair, Atrial septa... OMIM:601803
Bent Bone Dysplasia Syndrome 2
Hepatomegaly, Webbed neck, Shawl scrotum, Atrial septal defect, Micropenis OMIM:620076
Schinzel-Giedion Midface Retraction Syndrome
Atrial septal defect, Small scrotum, Hypospadias, Hypoplastic labia minora, Splenopancreatic fusi... OMIM:269150
Cockayne Syndrome B
Small for gestational age, Cryptorchidism, Normal pressure hydrocephalus, Severe failure to thriv... OMIM:133540
Cryptococcosis
Hydrocephalus, Prostatitis ORPHA:1546
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Ovarian cyst, Ventriculomegaly OMIM:618188
Meningioma
Hypogonadotropic hypogonadism, Hydrocephalus, Obesity, Impotence, Amenorrhea ORPHA:2495
Fanconi Anemia, Complementation Group L
Micropenis, Hydrocephalus, Aplasia of the uterus OMIM:614083
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus OMIM:615249
Multiple Sulfatase Deficiency
Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly OMIM:272200
Tetragametic Chimerism
Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ... ORPHA:199310
Hajdu-Cheney Syndrome
Ventricular septal defect, Mitral stenosis, Hypospadias, Hydrocephalus, Aortic valve stenosis, Fa... ORPHA:955
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly OMIM:614195
Arachnoiditis
Hydrocephalus ORPHA:137817
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Conotruncal defect OMIM:243440
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Helsmoortel-Van Der Aa Syndrome
Recurrent respiratory infections, Facial palsy, Decreased response to growth hormone stimulation ... OMIM:615873
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly OMIM:617866
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Poland Syndrome
Encephalocele, Hypospadias, Dextrocardia, Cryptorchidism, Low posterior hairline, Acute leukemia,... ORPHA:2911
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventricular septal defect, Ventriculomegaly OMIM:219730
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Hydrocephalus, Mitral valve prolapse OMIM:616914
Glomuvenous Malformation
Gastrointestinal arteriovenous malformation, Arteriovenous malformation, Venous malformation ORPHA:83454
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Failure to thrive, Ventriculomegaly ORPHA:395
Tenorio Syndrome
Hydrocephalus, Ventriculomegaly OMIM:616260
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... OMIM:613154
Acrofacial Dysostosis 1, Nager Type
Ventricular septal defect, Aqueductal stenosis, Hydrocephalus, Bicornuate uterus, Tetralogy of Fa... OMIM:154400
Peho Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:2836
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... OMIM:224700
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Osteootohepatoenteric Syndrome
Hydrocephalus, Failure to thrive, Weight loss OMIM:619377
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bifid scrotum, Bicuspid aortic valve, Hypospadias, Ventricular septal defect, Overweight, Hydroce... OMIM:619475
Campomelic Dysplasia
Hypospadias, Spina bifida, Hydrocephalus, Abnormal heart morphology, Sex reversal, Spinal dysraph... OMIM:114290
Lymphangioleiomyomatosis
Hydrocephalus, Abnormal morphology of female internal genitalia, Chylopericardium ORPHA:538
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect OMIM:614526
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hydrocephalus ORPHA:2318
Tetraamelia Syndrome 1
Hydrocephalus, Hypoplasia of the fallopian tube, Vaginal atresia, Absent external genitalia OMIM:273395
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
Joubert Syndrome With Renal Defect
Encephalocele, Hydrocephalus ORPHA:220497
Holoprosencephaly 2
Anterior pituitary agenesis, Single ventricle OMIM:157170
Mucopolysaccharidosis, Type Ii
Hydrocephalus, Abnormal heart valve morphology OMIM:309900
Osteopetrosis, Autosomal Recessive 2
Hydrocephalus OMIM:259710
Osteopetrosis, Autosomal Recessive 5
Hydrocephalus, Stillbirth, Ventriculomegaly OMIM:259720
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Abnormal pulmonary valve ... ORPHA:857
Orofaciodigital Syndrome I
Ovarian cyst, Myelomeningocele, Hydrocephalus, Abnormal heart morphology OMIM:311200
Hydrolethalus Syndrome 1
Ventricular septal defect, Hypospadias, Bifid uterus, Complete atrioventricular canal defect, Ane... OMIM:236680
Mucopolysaccharidosis, Type Vii
Cardiomyopathy, Hydrocephalus, Abnormal heart valve morphology OMIM:253220
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomegaly, Hydrocephalus, Cardiomyopathy, Abnormal myocardium morphology, Ventriculomegaly ORPHA:228308
Hurler Syndrome
Cardiomyopathy, Hydrocephalus, Endocardial fibroelastosis OMIM:607014
Holoprosencephaly 1
Micropenis, Single ventricle OMIM:236100
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Large for gestational age, Micropenis, Slender build, Ventriculomegaly ORPHA:457359
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Atrial septal defect, Dry hair, Brittle hair, Nail dystrophy ORPHA:93947
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
Gaucher Disease, Type Iiic
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Hydrocephalus, Mitral stenosis OMIM:231005
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Hydrocephalus OMIM:224400
Mucopolysaccharidosis Type 1
Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Abnormal aortic valve morphology, H... ORPHA:579
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Holoprosencephaly ORPHA:2356
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Hirsutism, Polycystic ovaries ORPHA:2795
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Aortic regurgitation, Tricuspid regurgitation, Hiatus hernia, Cryptorchidism, Pneumothorax, Mitra... OMIM:601776
Dural Sinus Malformation
Myelopathy, Hydrocephalus ORPHA:97339
Otopalatodigital Syndrome, Type Ii
Omphalocele, Hypospadias, Spina bifida, Cryptorchidism, Widow's peak, Stillbirth, Atrial septal d... OMIM:304120
Cystic Fibrosis
Male infertility, Failure to thrive, Cor pulmonale OMIM:219700
Familial Cerebral Cavernous Malformation
Venous malformation, Neuroma, Cerebral hemorrhage ORPHA:221061
Hurler Syndrome
Cardiomyopathy, Hydrocephalus, Abnormal heart valve morphology, Endocardial fibroelastosis ORPHA:93473
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus ORPHA:93259
Wiedemann-Rautenstrauch Syndrome
Hypospadias, Small for gestational age, Secundum atrial septal defect, Cryptorchidism, Hydrocepha... OMIM:264090
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus OMIM:618590
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Neurofibromatosis Type 1
Precocious puberty, Cryptorchidism, Hydrocephalus ORPHA:636
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... ORPHA:2975
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Ventriculomegaly OMIM:616538
Plasminogen Deficiency, Type I
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:217090
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Curly hair, Cyst of the ductus choledochus, Patent ductus arteriosus, Cardiomyopathy, Hypoplastic... ORPHA:480880
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:614643
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Stromme Syndrome
Hydrocephalus, Stillbirth OMIM:243605
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Lateral ventricle dilatation, Normal pressure hydrocephalus ORPHA:300570
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Failure to thrive, Dilated cardiomyopathy, Hydrocephalus, Abnormal heart morphology ORPHA:79282
Mucopolysaccharidosis Type 3
Cardiomegaly, Hydrocephalus, Abnormal aortic valve morphology, Abnormal mitral valve morphology, ... ORPHA:581
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Hydrocephalus, Increased myocardial glycogen content, Biventr... OMIM:261740
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Multiple Sulfatase Deficiency
Hydrocephalus ORPHA:585
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus, Failure to thrive OMIM:277400
Raine Syndrome
Neonatal death, Hydrocephalus OMIM:259775
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Hydrocele testi... OMIM:619522
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus, Cachexia ORPHA:220295
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Hydrocephalus, Ventriculomegaly OMIM:613150
Penile Agenesis
Ambiguous genitalia, Ventricular septal defect, Cryptorchidism, Bilateral lung agenesis, Pulmonar... ORPHA:49
Coffin-Siris Syndrome 12
Hypospadias, Cryptorchidism, Tetralogy of Fallot, Noncommunicating hydrocephalus, Failure to thri... OMIM:619325
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hydrocephalus OMIM:616007
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Hypospadias, Cryptorchidism, Mild fetal ventriculomegaly, Chordee, M... OMIM:619841
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Hydrocephalus ORPHA:1454
15Q Overgrowth Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:314585
Carnitine Palmitoyltransferase Ii Deficiency
Cardiomyopathy, Hydrocephalus ORPHA:157
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Cornelia De Lange Syndrome
Multicystic kidney dysplasia, Hypoplasia of penis, Ventricular septal defect, Hypospadias, Curly ... ORPHA:199
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Knobloch Syndrome
Occipital encephalocele, Hydrocephalus, Dextrocardia ORPHA:1571
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Schwannoma, Abnormal heart morphology, Mitral valve prolapse, Mitral r... ORPHA:363700
Oculodentodigital Dysplasia
Dry hair, Slow-growing hair, Fine hair, Sparse hair, Atrial septal defect, Arrhythmia OMIM:164200
Genitopatellar Syndrome
Sparse scalp hair, Multicystic kidney dysplasia, Small scrotum, Ventricular septal defect, Enlarg... OMIM:606170
Iniencephaly
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol... ORPHA:63259
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus ORPHA:2720
Wiedemann-Rautenstrauch Syndrome
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Congenital malformation of the left h... ORPHA:3455
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules ORPHA:25
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus, Mitral valve prolapse OMIM:104350
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hydrocephalus, Mitral valve prolapse ORPHA:536467
Mucopolysaccharidosis, Type Vi
Cardiomyopathy, Mitral stenosis, Cervical myelopathy, Hydrocephalus OMIM:253200
Diphallia
Bifid scrotum, Inguinal hernia, Rectoperineal fistula, Hypospadias, Cryptorchidism, Epispadias, P... ORPHA:227
Achondroplasia
Hydrocephalus OMIM:100800
Focal Dermal Hypoplasia
Cryptorchidism, Hydrocephalus, Myelomeningocele, Clitoral hypoplasia, Labial hypoplasia, Spina bi... OMIM:305600
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Sparse scalp hair, Ventricular septal defect, Bicuspid aortic valve, Short nail, Mitral regurgita... OMIM:271640
Cystinosis, Nephropathic
Male infertility, Male hypogonadism, Failure to thrive in infancy, Weight loss OMIM:219800
Mohr Syndrome
Hydrocephalus OMIM:252100
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... OMIM:610828
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Split Cord Malformation
Hypospadias, Cervical spina bifida, Myelomeningocele, Meningocele, Lipomyelomeningocele, Hydrocep... ORPHA:573278
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Ventricular septal defect ORPHA:268249
Baller-Gerold Syndrome
Hydrocephalus, Abnormal heart morphology, Perineal fistula, Rectovaginal fistula, Spina bifida oc... OMIM:218600
Icf Syndrome
Communicating hydrocephalus ORPHA:2268
Medulloblastoma
Hydrocephalus ORPHA:616
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Alström Syndrome
Precocious puberty in females, Hypergonadotropic hypogonadism, Testicular fibrosis, Dilated cardi... ORPHA:64
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Gaucher Disease
Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium morphology, Aor... ORPHA:355
Norrie Disease
Venous insufficiency, Cryptorchidism, Optic atrophy, Uterine rupture ORPHA:649
Osteogenesis Imperfecta
Abnormal endocardium morphology, Small for gestational age, Hydrocephalus, Noncommunicating hydro... ORPHA:666
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus, Cardiomyopathy OMIM:616084
Congenital Disorder Of Glycosylation, Type Iim
Hypertension, Atrial septal defect, Vesicovaginal fistula, Thick eyebrow, Oligohydramnios OMIM:300896
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus, Abnormal heart morphology ORPHA:137667
Sturge-Weber Syndrome
Hydrocephalus ORPHA:3205
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Alobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Failure to thrive, Abnormal heart morphology ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Neural tube defect, Hydrocephalus, Failure to thrive, Abnormal heart morphology ORPHA:93926
Lobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Failure to thrive, Abnormal heart morphology ORPHA:93924
Semilobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Failure to thrive, Abnormal heart morphology ORPHA:220386
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, Ventriculomegaly, Large for gestational age OMIM:617011
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Lateral ventricle dilatation OMIM:612301
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Abnormal heart valve morphology, Abnormal pulmonary valve morphology... ORPHA:580
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Hypoglycorrhachia ORPHA:168577
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Spina bifida OMIM:162200
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus ORPHA:309282
Full Nf2-Related Schwannomatosis
Myelopathy, Hydrocephalus ORPHA:637
Autosomal Recessive Malignant Osteopetrosis
Hydrocephalus, Abnormal pulmonary valve morphology ORPHA:667
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Ventriculomegaly OMIM:253280
Tuberous Sclerosis Complex
Noncommunicating hydrocephalus, Cardiac rhabdomyoma, Subependymal nodules ORPHA:805
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hydrocephalus OMIM:175780
Craniofacial Microsomia 1
Occipital encephalocele, Hydrocephalus, Tetralogy of Fallot, Ventricular septal defect OMIM:164210

Histopathology

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

There is no histopathology data for Cfap53

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cfap53.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Cfap53em1(IMPC)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Cfap53em1(IMPC)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Cfap53em2Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Cfap53em1Wtsi PMC6459510

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Cfap53em1(IMPC)Wtsi Deletion Mice
Cfap53tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cfap53tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Cfap53tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cfap53tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Cfap53tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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