banner
Genes Phenotypes Help, News, Blog

Gene: Drc1 MGI:2685906

Log in to follow

Gene Summary

Name:
dynein regulatory complex subunit 1
Synonyms:
b2b1654Clo,  Ccdc164,  LOC381738,  Gm1060

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
decreased bone mineral content Drc1em1(IMPC)Bay HOM   Early adult 5.63×10-05
preweaning lethality, incomplete penetrance Drc1em1(IMPC)Bay HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Drc1 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 Drc1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:620222
Primary Ciliary Dyskinesia
Situs inversus totalis, Recurrent sinopulmonary infections, Atrial situs ambiguous, Chronic sinus... ORPHA:244
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Chronic sinusitis, Decreased nasal nitric oxide, Recurrent pneumon... OMIM:615294

The table below shows human diseases predicted to be associated to Drc1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Mirror Movements 3
Situs inversus totalis OMIM:616059
Spermatogenic Failure 65
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:619712
Spermatogenic Failure 38
Abnormal sperm head morphology, Abnormal axonemal organization of respiratory motile cilia, Oligo... OMIM:618433
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Dextrocardia, Hypoplastic left heart, Right aortic arch, Total anomalous ... OMIM:614779
Spermatogenic Failure 56
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Irregularly... OMIM:301059
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Reduced sperm motility, Male infertility, Oligospermia, Abnormal sperm mid... ORPHA:529970
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:620222
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertil... OMIM:618664
Spermatogenic Failure 76
Short sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Oli... OMIM:620084
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Short sperm flagella, Irregularly shaped sper... OMIM:619585
Spermatogenic Failure 54
Cryptozoospermia, Oligospermia, Short sperm flagella, Coiled sperm flagella, Abnormal sperm axone... OMIM:619379
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility OMIM:614822
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility OMIM:615081
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Male infertility, Oligospermia OMIM:619102
Spermatogenic Failure 39
Oligospermia, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertilit... OMIM:618643
Spermatogenic Failure 79
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligospermia OMIM:620196
Spermatogenic Failure 51
Macrocephalic sperm head, Microcephalic sperm head, Absent sperm axoneme central pair complex, Sh... OMIM:619177
Spermatogenic Failure 41
Immotile sperm, Short sperm flagella, Male infertility, Tapered sperm head, Oligospermia OMIM:618670
Spermatogenic Failure 72
Reduced progressive sperm motility, Absent sperm axoneme central pair complex, Short sperm flagel... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:618153
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:618341
Spermatogenic Failure 46
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:619095
Spermatogenic Failure 33
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:617576
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:617965
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Asplenia, Heterotaxy OMIM:601086
Spermatogenic Failure 20
Coiled sperm flagella, Absent sperm flagella, Male infertility, Short sperm flagella OMIM:617593
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Coiled sperm flagella, Absent sperm flagella, Male inf... OMIM:618751
Spermatogenic Failure 49
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:617592
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Oligospermia, Male infertility OMIM:619696
Heterotaxy, Visceral, 8, Autosomal
Pulmonary artery atresia, Congenitally corrected transposition of the great arteries with ventric... OMIM:617205
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Mesocardia, Dextrocardia, Asplenia, Atrioventricular canal defect, Polysp... OMIM:605376
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligospermia OMIM:612997
Spermatogenic Failure 63
Reduced progressive sperm motility, Decreased testicular size, Oligospermia, Male infertility OMIM:619689
Spermatogenic Failure 78
Microcephalic sperm head, Male infertility, Tapered sperm head OMIM:620170
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Abdominal situs inversus OMIM:619607
Partial Chromosome Y Deletion
Decreased testicular size, Cryptorchidism, Non-obstructive azoospermia, Male infertility, Abnorma... ORPHA:1646
Right Atrial Isomerism
Situs inversus totalis, Pulmonary artery atresia, Dextrocardia, Pulmonic stenosis, Tetralogy of F... OMIM:208530
Spermatogenic Failure 42
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Mal... OMIM:618745
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Abnormal sperm tail morphology, Male infertility, Abnormal sperma... OMIM:611102
Heterotaxy, Visceral, 7, Autosomal
Situs inversus totalis, Pulmonary artery atresia, Dextrocardia, Hypoplasia of right ventricle, Ri... OMIM:616749
Spermatogenic Failure 25
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Non-obstruc... OMIM:617960
Spermatogenic Failure 48
Azoospermia, Spermatogenesis maturation arrest, Oligospermia, Male infertility OMIM:619108
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligospermia OMIM:619828
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Asplenia OMIM:618948
Spermatogenic Failure 30
Cryptorchidism, Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility OMIM:618110
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Left Isomerism, Chronic sinusitis, Congenitally corrected transposition o... OMIM:618300
Spermatogenic Failure 44
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:619044
Spermatogenic Failure 21
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:617187
Tricuspid Atresia
Pulmonary artery atresia, Hypoplasia of right ventricle, Coarctation of aorta, Atrial septal defe... ORPHA:1209
Spermatogenic Failure 24
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Tapered sperm head, Reduce... OMIM:617959
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Spermatogenic Failure 22
Non-obstructive azoospermia, Male infertility, Cryptozoospermia OMIM:617706
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Nasal polyposis, Decreased nasal nitric oxide, Short sperm flagella, Chronic cough, Coiled sperm ... OMIM:620197
Spermatogenic Failure 5
Macrocephalic sperm head, Multiflagellar spermatozoa, Male infertility OMIM:243060
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Immotile sperm, Chronic rhinitis, Decreased nasal nitric oxide, Ab... OMIM:617091
Heterotaxy, Visceral, 4, Autosomal
Midline liver, Pulmonary artery atresia, Dextrocardia, Right aortic arch, Ventricular septal defe... OMIM:613751
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Ciliary Dyskinesia, Primary, 11
Neonatal respiratory distress, Reduced sperm motility, Chronic rhinitis, Decreased nasal nitric o... OMIM:612649
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Ciliary Dyskinesia, Primary, 14
Neonatal respiratory distress, Abnormal axonemal organization of respiratory motile cilia, Chroni... OMIM:613807
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Ciliary Dyskinesia, Primary, 18
Neonatal respiratory distress, Immotile sperm, Respiratory insufficiency due to defective ciliary... OMIM:614874
Spermatogenic Failure 57
Non-obstructive azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male i... OMIM:619528
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Ciliary Dyskinesia, Primary, 12
Neonatal respiratory distress, Chronic sinusitis, Reduced sperm motility, Chronic pulmonary obstr... OMIM:612650
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619937
Spermatogenic Failure 73
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619878
Heterotaxy, Visceral, 5, Autosomal
Pulmonary artery atresia, Dextrocardia, Coarctation of aorta, Double inlet left ventricle, Asplen... OMIM:270100
Heterotaxy, Visceral, 12, Autosomal
Situs inversus totalis, Hypoplastic left heart, Right aortic arch, Atrial septal defect, Hypoplas... OMIM:619702
Spermatogenic Failure 50
Azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male infertility OMIM:619145
Isochromosomy Yp
Azoospermia, Decreased testicular size, Male infertility, Ambiguous genitalia ORPHA:98797
Ciliary Dyskinesia, Primary, 26
Neonatal respiratory distress, Respiratory insufficiency due to defective ciliary clearance, Decr... OMIM:615500
Spermatogenic Failure 32
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:619831
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Dextrocardia, Pulmonic stenosis, Ventricular septal defect, Thoracic aortic aneurysm, Atrial sept... OMIM:619657
Ciliary Dyskinesia, Primary, 32
Neonatal respiratory distress, Chronic sinusitis, Chronic pulmonary obstruction, Chronic rhinitis... OMIM:616481
Heterotaxy, Visceral, 1, X-Linked
Hypoplastic left heart, Asplenia, Ventricular septal defect, Hypoplastic aortic arch, Left superi... OMIM:306955
Ciliary Dyskinesia With Defective Radial Spokes
Abnormal respiratory system physiology, Nasal polyposis, Immotile sperm, Chronic rhinitis, Absent... OMIM:242670
Ciliary Dyskinesia, Primary, 45
Chronic rhinitis, Bronchiectasis, Male infertility, Immotile cilia, Absent inner and outer dynein... OMIM:618801
Ciliary Dyskinesia, Primary, 13
Infertility, Absent outer dynein arms, Absent inner dynein arms, Bronchiectasis, Immotile cilia, ... OMIM:613193
Ciliary Dyskinesia, Primary, 15
Neonatal respiratory distress, Abnormal axonemal organization of respiratory motile cilia, Chroni... OMIM:613808
Genitopalatocardiac Syndrome
Right aortic arch, Ventricular septal defect, Double outlet right ventricle, Micrognathia, Transp... OMIM:231060
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Chronic sinusitis, Cough, Chronic rhinitis, Decreased nasal nitric... OMIM:612444
Primary Ciliary Dyskinesia
Situs inversus totalis, Recurrent sinopulmonary infections, Atrial situs ambiguous, Chronic sinus... ORPHA:244
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Dextrocardia, Bronchiectasis, Right aortic arch OMIM:617577
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal coronary artery morphology, Coarctation of aorta, A... ORPHA:860
Isochromosomy Yq
Decreased testicular size, Ambiguous genitalia, Varicocele, Azoospermia, Gonadal tissue inappropr... ORPHA:98798
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Dextrocardia, Right aortic arch with mir... OMIM:606217
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Ciliary Dyskinesia, Primary, 6
Abnormal ciliary motility, Absent/shortened outer dynein arms, Sinusitis, Abnormal respiratory mo... OMIM:610852
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Abnormal sperm morphology, Decreased testicular size, Abnormal sperm tail morpho... ORPHA:399808
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Nephronophthisis 14
Situs inversus totalis OMIM:614844
Ciliary Dyskinesia, Primary, 22
Neonatal respiratory distress, Nasal polyposis, Respiratory insufficiency due to defective ciliar... OMIM:615444
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia OMIM:215520
Spermatogenic Failure 3
Reduced sperm motility, Male infertility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Reduced sperm motility, Male infertility OMIM:400042
Spermatogenic Failure 55
Reduced sperm motility, Male infertility OMIM:619380
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Congenital Heart Defects, Multiple Types, 6
Secundum atrial septal defect, Pulmonary artery atresia, Coarctation of aorta, Right aortic arch,... OMIM:613854
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Pulmonic stenosis, Aortic root aneurysm, Mandibular prognathia, Persisten... OMIM:609008
16P13.11 Microduplication Syndrome
Coarctation of aorta, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Trans... ORPHA:261243
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Pulmonic stenosis, Asplenia, Cholestasis, Pulmonary hypoplasia, Hepatic f... OMIM:615415
Spermatogenic Failure 6
Globozoospermia, Decreased acrosin in sperm head, Male infertility OMIM:102530
Spermatogenic Failure 17
Male infertility OMIM:617214
Ciliary Dyskinesia, Primary, 19
Nasal polyposis, Respiratory insufficiency due to defective ciliary clearance, Bronchiectasis, Ma... OMIM:614935
Ciliary Dyskinesia, Primary, 28
Neonatal respiratory distress, Rhinitis, Respiratory insufficiency due to defective ciliary clear... OMIM:615505
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Stroke, Atrial septal defect, Ventricular septal defect, Cardiomyopathy, ... OMIM:249270
Spermatogenic Failure 77
Cryptorchidism, Azoospermia, Multiflagellar spermatozoa, Male infertility, Oligospermia OMIM:620103
Nephronophthisis 16
Situs inversus totalis, Pulmonic stenosis, Cholestasis, Periportal fibrosis, Aortic valve stenosi... OMIM:615382
Hypoglossia With Situs Inversus
Situs inversus totalis, Polysplenia, Asplenia, Micrognathia OMIM:612776
Dextrocardia
Situs inversus totalis, Pancreatic hypoplasia, Dextrocardia, Congenital malformation of the great... ORPHA:1666
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Chronic rhinitis, Decreased nasal n... OMIM:615481
Aorta Coarctation
Stroke, Hypoplastic left heart, Coarctation of the descending aortic arch, Tetralogy of Fallot, H... ORPHA:1457
Ciliary Dyskinesia, Primary, 29
Infertility, Bronchiectasis, Ciliary dyskinesia, Decreased nasal nitric oxide OMIM:615872
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Chronic sinusitis, Productive cough, Decreased nasal nitric oxide,... OMIM:618063
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Oligospermia, Male infertility OMIM:108420
Ciliary Dyskinesia, Primary, 39
Bronchiectasis, Double outlet right ventricle, Dextrocardia, Recurrent lower respiratory tract in... OMIM:618254
Ciliary Dyskinesia, Primary, 10
Chronic sinusitis, Recurrent sinusitis, Abnormal respiratory motile cilium morphology, Ciliary dy... OMIM:612518
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Situs inversus totalis OMIM:620032
Ciliary Dyskinesia, Primary, 16
Chronic sinusitis, Abnormal ciliary motility, Chronic rhinitis, Absent outer dynein arms, Bronchi... OMIM:614017
Cardiofacioneurodevelopmental Syndrome
Pulmonic stenosis, Ventricular septal defect, Asplenia, Atrioventricular canal defect, Micrognath... OMIM:619123
Meacham Syndrome
Situs inversus totalis, Conotruncal defect, Aplasia/Hypoplasia of the lungs, Abnormal lung lobati... ORPHA:3097
Partial Atrioventricular Septal Defect
Recurrent respiratory infections, Partial atrioventricular canal defect, Coarctation of aorta, Hy... ORPHA:1330
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia OMIM:225050
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Macroorchidism, Oligospermia, Precocious puberty ORPHA:3000
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Dextrocardia, Absent radius, Atrioventricular canal defect, Pulmonary hypoplasia, ... OMIM:314390
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Nasal polyposis, Chronic rhinitis, Respiratory insufficiency due t... OMIM:608647
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Ciliary Dyskinesia, Primary, 7
Reduced FEV1/FVC ratio, Restrictive ventilatory defect, Cough, Abnormal ciliary motility, Chronic... OMIM:611884
Ciliary Dyskinesia, Primary, 2
Nasal polyposis, Infertility, Sinusitis, Respiratory distress, Bronchiectasis, Immotile cilia, Ci... OMIM:606763
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Truncus Arteriosus
Right aortic arch, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Interrup... ORPHA:3384
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Ciliary Dyskinesia, Primary, 17
Chronic sinusitis, Cough, Chronic rhinitis, Bronchiectasis, Dynein arm defect of respiratory moti... OMIM:614679
Ciliary Dyskinesia, Primary, 36, X-Linked
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:300991
22Q11.2 Duplication Syndrome
Aplasia/Hypoplasia of the thymus, Hypoplastic left heart, Ventricular septal defect, Tetralogy of... ORPHA:1727
Atrial Septal Defect 2
Dextrocardia, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Atrioventricula... OMIM:607941
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis OMIM:608644
Spermatogenic Failure 13
Azoospermia OMIM:615841
Deleted in azoospermia
Azoospermia OMIM:400003
Hydrocephalus, Autosomal Dominant
Dandy-Walker malformation, Hydrocephalus OMIM:123155
Bardet-Biedl Syndrome 8
Situs inversus totalis OMIM:615985
Familial Nasal Acilia
Dyspnea, Chronic sinusitis, Chronic rhinitis, Respiratory distress, Bronchiectasis, Abnormal resp... ORPHA:922
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Decreased testicular size, Obstructive azoospermia, Non-obstructive azoospermia, Azoospermia, Abn... ORPHA:399805
Young Syndrome
Azoospermia, Bronchiectasis OMIM:279000
Conotruncal Heart Malformations
Coarctation of aorta, Complete atrioventricular canal defect, Double outlet right ventricle, Trun... OMIM:217095
Fetal Trimethadione Syndrome
Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Micrognathia, Transposition... ORPHA:1913
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Oligospermia OMIM:615703
Spermatogenic Failure, X-Linked, 2
Azoospermia, Spermatogenesis maturation arrest, Testicular atrophy, Male infertility OMIM:309120
Meacham Syndrome
Dextrocardia, Coarctation of aorta, Hypoplastic left heart, Right aortic arch, Tetralogy of Fallo... OMIM:608978
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Pulmonary artery atresia, Ventricular septal defect, Tetralogy of Fallot,... ORPHA:1908
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Productive cough, Chronic rhinitis, Respiratory insufficiency due ... OMIM:615451
Scimitar Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Atrial septal defect, Left superior vena cava draini... ORPHA:185
Ciliary Dyskinesia, Primary, 25
Situs inversus totalis, Recurrent respiratory infections, Dextrocardia, Chronic bronchitis, Polys... OMIM:615482
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Recurrent respiratory infections, Dextrocardia, Atelectasis, Ventricular ... OMIM:615067
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, Abnormal ... ORPHA:488191
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619949
Ventricular Septal Defect 1
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Atrioventricular canal defect... OMIM:614429
Renal-Hepatic-Pancreatic Dysplasia 1
Situs inversus totalis, Biliary cirrhosis, Asplenia, Atrial septal defect, Cholestasis, Pancreati... OMIM:208540
Ciliary Dyskinesia, Primary, 41
Impaired nasal mucociliary clearance, Immotile sperm, Infertility, Bronchiectasis, Recurrent sinu... OMIM:618449
Ciliary Dyskinesia, Primary, 30
Chronic sinusitis, Nasal polyposis, Respiratory insufficiency, Cough, Respiratory insufficiency d... OMIM:616037
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Chronic sinusitis, Decreased nasal nitric oxide, Recurrent pneumon... OMIM:615294
Ciliary Dyskinesia, Primary, 35
Situs inversus totalis, Chronic sinusitis, Abdominal situs ambiguus, Recurrent pneumonia, Bronchi... OMIM:617092
White Forelock With Malformations
Prominent veins on trunk, Aplasia/Hypoplasia of the distal phalanges of the toes, Atrial septal d... OMIM:277740
Structural Heart Defects And Renal Anomalies Syndrome
Right aortic arch, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Interrup... OMIM:617478
Ciliary Dyskinesia, Primary, 43
Chronic sinusitis, Recurrent lower respiratory tract infections, Bronchiectasis, Recurrent upper ... OMIM:618699
Diabetic Embryopathy
Abnormality of the pancreas, Ventricular septal defect, Tetralogy of Fallot, Abnormal aortic morp... ORPHA:1926
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Pulmonary artery atresia, Recurre... ORPHA:99050
Ciliary Dyskinesia, Primary, 1
Chronic sinusitis, Nasal polyposis, Communicating hydrocephalus, Chronic rhinitis, Absent outer d... OMIM:244400
Congenital Heart Defects, Multiple Types, 4
Coarctation of aorta, Hypoplastic left heart, Ventricular septal defect, Tetralogy of Fallot, Atr... OMIM:615779
Double Outlet Right Ventricle
Aplasia/Hypoplasia of the thymus, Pulmonary artery atresia, Coarctation of aorta, Hypoplastic lef... ORPHA:3426
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Obstructive azoospermia, Male infertility, Oligospermia ORPHA:48
Ciliary Dyskinesia, Primary, 27
Situs inversus totalis, Recurrent respiratory infections, Chronic sinusitis, Chronic bronchitis, ... OMIM:615504
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia, Spermatocele OMIM:301060
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Ventricular septal defect, Hepatic bridging fibrosis, Portal inflammati... OMIM:613759
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Bicuspid aortic valve, Short 5th metacarpal, Patent ductus arteri... ORPHA:228190
Developmental And Epileptic Encephalopathy 102
Situs inversus totalis, Hepatomegaly, Atrial septal defect OMIM:619881
Colonic Atresia
Abdominal situs inversus, Abnormality of mesentery morphology ORPHA:1198
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short finger, Pseudocoarctation of the aorta, Short toe, Bicuspid aortic valve, Short 5th metacar... OMIM:604381
Spermatogenic Failure 15
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:616950
Meckel Syndrome, Type 7
Situs inversus totalis, Hepatosplenomegaly, Biliary cirrhosis, Atrial septal defect, Cholestasis,... OMIM:267010
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Hydrocephalus OMIM:209970
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Coarctation of aorta, Interrupted aortic arch OMIM:107550
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... ORPHA:1455
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Congenital Alveolar Capillary Dysplasia
Hypoplastic left heart, Asplenia, Ventricular septal defect, Atrial septal defect, Tetralogy of F... ORPHA:210122
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Male infertility OMIM:261550
Total Anomalous Pulmonary Venous Return 1
Total anomalous pulmonary venous return, Dextrocardia OMIM:106700
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Chronic sinusitis, Primum atrial septal defect, Polysplenia, Partial atri... OMIM:619608
Isolated Follicle Stimulating Hormone Deficiency
Oligomenorrhea, Abnormal sperm morphology, Decreased testicular size, Testicular atrophy, Primary... ORPHA:52901
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hydrocephalus, Hypergonadotropic hypogonadism ORPHA:2183
Ring Chromosome Y Syndrome
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, m... ORPHA:261529
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation OMIM:600195
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Fallot Complex With Severe Mental And Growth Retardation
Ventricular septal defect, Double outlet right ventricle, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Cardiac Diverticulum
Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Abnormal heart morphology, ... ORPHA:1686
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypoplastic left heart, Asplenia, Tetralogy of Fallot, Hypoplastic aortic arch, Ventricular septa... OMIM:265380
Distal 7Q11.23 Microdeletion Syndrome
Patent ductus arteriosus, Atrial septal defect ORPHA:254351
Atrial Septal Defect 4
Coarctation of aorta, Patent foramen ovale, Atrial septal defect OMIM:611363
Spondylocostal Dysostosis 4, Autosomal Recessive
Situs inversus totalis, Dextrocardia, Missing ribs, Unilateral vertebral artery hypoplasia, Verte... OMIM:613686
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm head morphology, Abnormal sperm morphology, Decreased testicular size, Infertility... ORPHA:320391
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Intellectual Developmental Disorder, Autosomal Dominant 66
Cerebral cavernous malformation, Secundum atrial septal defect, Aortic root aneurysm, Transpositi... OMIM:619910
Short Stature-Wormian Bones-Dextrocardia Syndrome
Dextrocardia, Delayed eruption of teeth, Patent ductus arteriosus, Micrognathia ORPHA:2863
Cardiac-Urogenital Syndrome
Dysplastic tricuspid valve, Mesocardia, Dextrocardia, Hypoplastic left heart, Tetralogy of Fallot... OMIM:618280
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect, Aplasia of the middle phalanx of the 4th toe, Sh... OMIM:615297
Congenitally Corrected Transposition Of The Great Arteries
Situs inversus totalis, Atrial situs ambiguous, Ventricular septal defect, Atrial septal defect, ... ORPHA:216694
Agnathia-Otocephaly Complex
Situs inversus totalis, Secundum atrial septal defect, Pulmonary hypoplasia, Mandibular aplasia, ... OMIM:202650
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Hydrocephalus OMIM:166990
Spinocerebellar Ataxia 32
Infertility, Azoospermia, Testicular atrophy OMIM:613909
Velocardiofacial Syndrome
Pulmonary artery atresia, Retrognathia, Right aortic arch with mirror image branching, Tetralogy ... OMIM:192430
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Hypoplastic left heart, Atrial septal defect, Hypoplastic aortic arch, Ve... ORPHA:99125
Coarctation Of Aorta
Coarctation of aorta, Hypoplastic left heart OMIM:120000
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Double outlet right ventric... OMIM:617912
Pineocytoma
Increased CSF protein concentration, Hydrocephalus ORPHA:251912
Whim Syndrome 2
Chronic neutropenia, Tetralogy of Fallot OMIM:619407
Distal Duplication 14Q
Abnormal aortic morphology, Abnormal lung lobation, Patent ductus arteriosus ORPHA:1705
Ciliary Dyskinesia, Primary, 33
Cough, Chronic rhinitis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia OMIM:616726
Mosaic Trisomy 9
Dextrocardia, Asplenia, Atrial septal defect, Ventricular septal defect, Abnormal heart valve mor... ORPHA:99776
8P23.1 Microdeletion Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect, Abnormal cardiac sept... ORPHA:251071
47,Xyy Syndrome
Cryptorchidism, Micropenis, Hydrocephalus, Varicocele, Azoospermia, Male infertility, Macroorchid... ORPHA:8
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Criss-Cross Heart
Pulmonic stenosis, Ventricular septal defect, Abnormal mitral valve morphology, Tricuspid stenosi... ORPHA:1461
Thoraco-Abdominal Enteric Duplication
Abnormal tricuspid valve morphology, Dextrocardia, Hepatomegaly ORPHA:1759
Biemond Syndrome Ii
Short stature, Hydrocephalus OMIM:210350
Congenital Heart Defects, Multiple Types, 7
Pulmonary artery atresia, Right aortic arch, Tetralogy of Fallot, Pulmonic stenosis, Absence of t... OMIM:618780
Heart Defects, Congenital, And Other Congenital Anomalies
Pancreatic hypoplasia, Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect, Atrial ... OMIM:600001
Spermatogenic Failure 28
Non-obstructive azoospermia, Decreased testicular size, Male infertility OMIM:618086
Feingold Syndrome 1
Short thumb, Ventricular septal defect, Asplenia, Interrupted aortic arch, Micrognathia, Short mi... OMIM:164280
Hypoplastic Left Heart Syndrome
Hypoplastic left heart, Atrial septal defect, Hypoplastic aortic arch, Mitral atresia, Patent duc... ORPHA:2248
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Persistent left superior vena cava, Abnormal heart morphology, Tetralogy of... OMIM:614954
Craniofacioskeletal Syndrome
Hypoplastic frontal sinuses, Atrial septal defect, Ventricular septal defect, Interrupted aortic ... OMIM:300712
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Secundum atrial septal defect, Dextrocardia, Pulmonary hypoplas... ORPHA:2257
Von Willebrand Disease
Venous insufficiency, Abnormal mitral valve morphology ORPHA:903
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pulmonic stenosis, Perimembranous ventricular septal defect, Anterior open-bite malocclusion, Sho... OMIM:617877
Heart And Brain Malformation Syndrome
Interrupted aortic arch, Ventricular septal defect OMIM:616920
Spermatogenic Failure 14
Azoospermia, Late spermatogenesis maturation arrest, Male infertility OMIM:615842
Ventricular Septal Defect 3
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect OMIM:614432
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Patent foramen ovale, Transposition of the great arteries OMIM:616789
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot OMIM:617992
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Dandy-Walker malformation, Hydrocephalus ORPHA:1538
Familial Visceral Myopathy
Abdominal situs inversus, Micrognathia ORPHA:2604
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased testicular size, Hypogonadism, Primary amenorrhea, Infertility, Azoospermia OMIM:229070
Mesoaxial Hexadactyly And Cardiac Malformation
Pulmonic stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:249670
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial septal defect, B... OMIM:618719
Isotretinoin-Like Syndrome
Conotruncal defect, Abnormality of the pulmonary veins, Abnormal cardiac atrium morphology, Lymph... ORPHA:2306
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Aplasia/Hypoplasia of the gallbladder, ... ORPHA:2255
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Carpenter Syndrome 1
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Malar fl... OMIM:201000
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Mandibular prognathia, Abnormal aortic arch morphology, Overriding ao... ORPHA:1110
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Hepatic fibrosis, Ventricular septal defect ORPHA:306550
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Abnormal m... ORPHA:1354
Progressive Non-Infectious Anterior Vertebral Fusion
Abdominal situs inversus, Micrognathia ORPHA:2062
Transaldolase Deficiency
Hepatosplenomegaly, Coarctation of aorta, Anemia, Atrial septal defect, Biventricular hypertrophy... ORPHA:101028
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis, Bronchiectasis OMIM:615434
Skraban-Deardorff Syndrome
Micrognathia, Hyperplasia of the maxilla, Right aortic arch, Ventricular septal defect OMIM:617616
Feingold Syndrome Type 1
Short thumb, Interrupted aortic arch, Abnormal heart morphology, Short middle phalanx of finger, ... ORPHA:391641
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Jaundice, Dextrocardia, Hepatomegaly, Hepatic cysts OMIM:613095
Diamond-Blackfan Anemia 6
Retrognathia, Short thumb, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, ... OMIM:612561
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Aortic root aneurysm, Abnormal heart valve morphology, Ventr... ORPHA:3400
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Pagod Syndrome
Situs inversus totalis, Hypoplastic left heart, Pulmonary hypoplasia, Pulmonary artery hypoplasia... ORPHA:991
Retinitis Pigmentosa 6
Immotile cilia OMIM:312612
Stormorken Syndrome
Subarachnoid hemorrhage, Hypoplastic spleen, Asplenia, Anemia, Thrombocytopenia, Howell-Jolly bod... OMIM:185070
Sweeney-Cox Syndrome
Short distal phalanx of finger, Asplenia, Short clavicles, Patent foramen ovale, Patent ductus ar... OMIM:617746
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligospermia OMIM:314300
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Atrial septal defect, Ventricular septal defect, Hepatic steatosis, Paten... OMIM:615996
Biemond Syndrome Type 2
Hydrocephalus, Hypogonadotropic hypogonadism, Hypogonadism, Hypospadias ORPHA:141333
Phenobarbital Embryopathy
Tetralogy of Fallot, Malar flattening, Aplasia/Hypoplasia of fingers, Mandibular prognathia, Abno... ORPHA:1919
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart OMIM:241550
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Tetralogy of Fallot, Abnormal aortic morphology, Micrognathia, Abnorma... ORPHA:1166
Wolf-Hirschhorn Syndrome
Recurrent respiratory infections, Aplasia/Hypoplasia of the lungs, Short thumb, Atrial septal def... ORPHA:280
Hallermann-Streiff Syndrome
Malar flattening, Short ribs, Supernumerary tooth, Natal tooth, Micrognathia, Small hand, Abdomin... ORPHA:2108
Spermatogenic Failure, X-Linked, 4
Azoospermia, Male infertility OMIM:301077
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Atrial Septal Defect 8
Anomalous pulmonary venous return, Atrial septal defect OMIM:614433
Bardet-Biedl Syndrome 17
Situs inversus totalis, Dextrocardia, Short fourth metatarsal OMIM:615994
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Hydrocephalus OMIM:618709
Microphthalmia, Syndromic 9
Pulmonary artery atresia, Coarctation of aorta, Hypoplastic spleen, Alveolar capillary dysplasia,... OMIM:601186
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Dandy-Walker malformation OMIM:617967
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Hydrocephalus OMIM:266100
Congenital Disorder Of Glycosylation, Type Iid
Dandy-Walker malformation, Hydrocephalus OMIM:607091
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis, Mandibular aplasia ORPHA:990
Aortic Valve Disease 3
Aortic root aneurysm, Atrial septal defect, Bicuspid aortic valve, Aortic valve stenosis, Ascendi... OMIM:618496
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Bicuspid aortic valve, Dextrotransposition of the great arteries, V... OMIM:618619
Congenital Heart Defects, Multiple Types, 2
Ventricular septal defect, Aortic aneurysm, Tetralogy of Fallot, Subvalvular aortic stenosis, Bic... OMIM:614980
Chudley-Mccullough Syndrome
Ventriculomegaly, Hydrocephalus OMIM:604213
Functioning Gonadotropic Adenoma
Hydrocephalus, Decreased female libido, Isosexual precocious puberty, Infertility, Abnormality of... ORPHA:91348
Developmental And Epileptic Encephalopathy 66
Dextrocardia, Atrial septal defect, Anemia, Ventricular septal defect, Macrodontia of permanent m... OMIM:618067
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Dextrotransposition of the great arteries, Ventricular septal defect OMIM:619995
Adrenal Hypoplasia, Congenital
Cryptorchidism, Azoospermia, Oligospermia, Hypogonadotropic hypogonadism, Precocious puberty OMIM:300200
Proteus Syndrome
Facial hyperostosis, Splenomegaly, Mandibular hyperostosis, Venous malformation, Lymphangioma OMIM:176920
Short Rib-Polydactyly Syndrome
Situs inversus totalis, Short finger, Limb undergrowth, Abnormality of the liver, Short ribs, Sho... ORPHA:1505
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Short distal phalanx of finger, Ventricular septal defect, Abnormal aortic morphology, Micrognath... ORPHA:2516
Spondylometaphyseal Dysplasia, Axial
Restrictive ventilatory defect, Recurrent pneumonia, Reduced sperm motility OMIM:602271
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent respiratory infections, Coarctation of aorta, Leukopenia, Ventricular septal defect, He... OMIM:620210
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Hemochromatosis, Type 2A
Infertility, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism OMIM:602390
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Short stature, Ciliary dyskinesia ORPHA:1882
Nephronophthisis 2
Situs inversus totalis, Pulmonary hypoplasia OMIM:602088
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus ORPHA:2578
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Ventricular septal defect, Overriding aorta, Patent ductus arteriosus, Vasc... OMIM:601927
15Q11.2 Microdeletion Syndrome
Coarctation of aorta, Ventricular septal defect, Total anomalous pulmonary venous return, Atrial ... ORPHA:261183
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Bilateral lung agenesis, Coarctation of aorta, Patent ductus ... OMIM:601612
Ellis Van Creveld Syndrome
Situs inversus totalis, Aplasia/Hypoplasia of the lungs, Dextrocardia, Short distal phalanx of fi... ORPHA:289
Grange Syndrome
Short palm, Arterial stenosis, Patent ductus arteriosus, Ventricular septal defect ORPHA:79094
Ververi-Brady Syndrome
Transposition of the great arteries OMIM:617982
Familial Aortic Dissection
Stroke, Descending aortic dissection, Aortic root aneurysm, Mucoid extracellular matrix accumulat... ORPHA:229
Kleeblattschaedel
Hydrocephalus OMIM:148800
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Atrial septal defect, Ventricular septal defect, Anemia, Intracranial hemorrhage, Interrupted aor... ORPHA:163979
Igg4-Related Aortitis
Abnormal common carotid artery morphology, Hypereosinophilia, Thoracic aortic aneurysm, Dilated l... ORPHA:449400
1Q21.1 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Hypospadias ORPHA:250994
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Recurrent respiratory infections, Short humerus, Coarctation of aorta, Hepatomegaly, Interrupted ... ORPHA:17
Thoracoabdominal Syndrome
Pulmonary hypoplasia, Ectopia cordis, Patent ductus arteriosus, Transposition of the great arteries OMIM:313850
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect OMIM:212090
Aortic Arch Interruption
Ventricular septal defect, Abnormal ascending aorta morphology, Left ventricular hypertrophy, Aor... ORPHA:2299
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Heme Oxygenase 1 Deficiency
Diffuse alveolar hemorrhage, Asplenia, Hemolytic anemia, Cervical lymphadenopathy, Hepatomegaly, ... OMIM:614034
Hadziselimovic Syndrome
Pulmonary artery atresia, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, V... OMIM:612946
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bicornuate uterus OMIM:258320
Aortic Aneurysm, Familial Thoracic 4
Stroke, Descending aortic dissection, Posterior cerebral artery stenosis, Thoracic aortic aneurys... OMIM:132900
Phaver Syndrome
Pulmonary artery atresia, Coarctation of aorta, Short thumb, Ventricular septal defect, Hypoplast... ORPHA:2876
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Pulmonary sequestration, Patent ductus arteriosus, Ventricular septal defect OMIM:618330
Androgen Insensitivity, Partial
Perineal hypospadias, Cryptorchidism, Micropenis, Hypogonadism, Infertility, Azoospermia, Absent ... OMIM:312300
Premature Ovarian Failure 10
Premature ovarian insufficiency, Decreased testicular size, Hypoplasia of the ovary, Primary amen... OMIM:612885
14Q11.2 Microdeletion Syndrome
Micrognathia, Patent ductus arteriosus, Ventricular septal defect ORPHA:261120
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Aplasia/Hypoplasia of the lungs, Short distal phalanx of finger, Coarctation of aorta, Short thum... ORPHA:1120
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an... ORPHA:251380
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Micrognathia, Overriding aorta, Dou... ORPHA:3304
8P23.1 Duplication Syndrome
Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot ORPHA:251076
Atrial Septal Defect 1
Secundum atrial septal defect, Atrial septal defect, Ventricular septal defect, Atrial septal dil... OMIM:108800
Li-Campeau Syndrome
Atrial septal defect, Ventricular septal defect, Patellar hypoplasia, Patent foramen ovale, Paten... OMIM:619189
Pseudotrisomy 13 Syndrome
Dextrocardia, Coarctation of aorta, Atrial septal defect, Ventricular septal defect, 11 pairs of ... OMIM:264480
1Q21.1 Microdeletion Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Short foot, Interrupted aortic arch ORPHA:250989
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Lead Poisoning
Abnormal sperm morphology, Abnormal respiratory system physiology, Decreased male libido, Decreas... ORPHA:330015
Spinal Muscular Atrophy, Type I
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect OMIM:253300
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Holt-Oram Syndrome
Hypoplastic left heart, Ventricular septal defect, Atrial septal defect, Atrioventricular canal d... ORPHA:392
Renpenning Syndrome
Malar flattening, Mandibular prognathia, Heterotaxy ORPHA:3242
Chondrodysplasia, Blomstrand Type
Preductal coarctation of the aorta, Malar flattening, Short ribs, Micromelia, Micrognathia OMIM:215045
14Q24.1Q24.3 Microdeletion Syndrome
Pulmonary artery atresia, Short thumb, Atrial septal defect, Ventricular septal defect, Abnormal ... ORPHA:401935
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Abnormal coronary artery morphology, Coarctation of aorta, Righ... ORPHA:980
48,Xyyy Syndrome
Male hypogonadism, Azoospermia, Asthma ORPHA:99329
Catel-Manzke Syndrome
Atrial septal defect, Malar flattening, Micrognathia, Ventricular septal defect ORPHA:1388
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Peripheral arterial stenosis, Patent ductus arteriosus, Varicose veins OMIM:126320
Congenital Myopathy 11
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect OMIM:619967
Ritscher-Schinzel Syndrome 1
Hypoplastic left heart, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Tetra... OMIM:220210
Intellectual Developmental Disorder, Autosomal Dominant 21
Incisor macrodontia, Coarctation of aorta, Patent ductus arteriosus, Atrial septal defect OMIM:615502
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, Dextrocardia, Coarctation of aorta OMIM:618929
Diets-Jongmans Syndrome
Interrupted inferior vena cava with azygous continuation, Heterotaxy, Ventricular septal defect OMIM:618846
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Coarctation of aorta, Tricuspid valve prolapse, Interrupted aortic arc... ORPHA:2396
Congenital Rubella Syndrome
Jaundice, Atrial septal defect, Ventricular septal defect, Anemia, Hepatomegaly, Thrombocytopenia... ORPHA:290
Klippel-Trénaunay Syndrome
Peripheral arteriovenous fistula, Venous insufficiency, Atrial septal defect, Hepatomegaly, Micro... ORPHA:90308
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Ventricular septal defect OMIM:619717
Ring Chromosome 21 Syndrome
Infertility, Azoospermia, Holoprosencephaly, Amenorrhea ORPHA:1445
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Retrognathia, Cerebral hemorrhage, Right aortic arch, Abnormal left ventricle morphology, Prematu... OMIM:300845
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Hypoplastic left heart, Doubl... OMIM:618845
8P Inverted Duplication/Deletion Syndrome
Abnormality of dental eruption, Aplasia/Hypoplasia of the gallbladder, Dextrocardia, Retrognathia... ORPHA:96092
Thakker-Donnai Syndrome
Ventricular septal defect, Transposition of the great arteries, Tetralogy of Fallot ORPHA:1780
Recombinant Chromosome 8 Syndrome
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Malar fl... OMIM:179613
Meckel Syndrome, Type 1
Coarctation of aorta, Asplenia, Pulmonary hypoplasia, Bile duct proliferation, Micrognathia, Pate... OMIM:249000
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Hypoplasia of the uter... OMIM:614837
Transaldolase Deficiency
Hepatosplenomegaly, Coarctation of aorta, Atrial septal defect, Ventricular septal defect, Anemia... OMIM:606003
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Pulmonary artery atresia, Ventricular septal defect, Left ventricu... OMIM:108900
Noonan Syndrome 12
Ventricular septal defect, Tetralogy of Fallot, Lymphopenia, Thrombocytopenia, 11 pairs of ribs OMIM:618624
Chromosome 15Q25 Deletion Syndrome
Dextrocardia, Ventricular septal defect, Polysplenia, Coronary artery fistula, Macrocytic anemia,... OMIM:614294
Poland Syndrome
Dextrocardia OMIM:173800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Hydrocephalus OMIM:614830
Masa Syndrome
Ventriculomegaly, Short stature, Hydrocephalus OMIM:303350
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia ORPHA:3204
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Micrognathia, Ventricular septal defect OMIM:608227
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Malar flattening, Patent ductus arteriosus, Micrognathia, Hypoplasia of the... OMIM:241310
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Pulmonic stenosis, Atrial septal defect, Dilated cardiomyopathy, Myocardial fibrosis, Transpositi... OMIM:253800
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Abnormal aortic morphology, Anemia, Ventricular septal defect ORPHA:3405
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Hypoplastic left heart, Patent ductus arteriosus, Ventricular septal... OMIM:616276
Holoprosencephaly 5
Hydrocephalus, Lobar holoprosencephaly, Semilobar holoprosencephaly, Alobar holoprosencephaly, La... OMIM:609637
Thiamine-Responsive Megaloblastic Anemia Syndrome
Stroke, Megaloblastic anemia, Atrial septal defect, Ventricular septal defect, Thrombocytopenia ORPHA:49827
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Dextrocardia, Megaloblastic anemia, Atrial septal defect, Anemia, Hepatomegaly, Thrombocytopenia,... OMIM:277380
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Vascular ring, Ventricular septal defect OMIM:603387
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hypogonadism, Hydrocephalus OMIM:601794
Renpenning Syndrome 1
Situs inversus totalis, Ventricular septal defect, Malar flattening, Atrial septal defect, Tetral... OMIM:309500
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Oligomenorrhea, Secondary amenorrhea, Abnormality of the Leydig cells, Micropenis, Testicular mic... OMIM:228300
Meckel Syndrome
Situs inversus totalis, Asplenia, Pancreatic fibrosis, Congenital hepatic fibrosis, Pancreatic cy... ORPHA:564
Pituitary Dermoid And Epidermoid Cysts
Oligomenorrhea, Oligospermia, Amenorrhea, Hypogonadism ORPHA:91351
Maternal Uniparental Disomy Of Chromosome X
Azoospermia, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous ge... ORPHA:261519
Distal Triplication 15Q
Retrognathia, Atrial septal defect, Hypoplastic aortic arch, Pulmonary hypoplasia, Abnormal heart... ORPHA:314588
Angioosteohypotrophic Syndrome
Short humerus, Aplasia/hypoplasia involving bones of the upper limbs, Venous malformation, Upper ... ORPHA:75508
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Postaxial oligodactyly, Atrial septal defect, Aplasia/Hypoplasia of the fibula, Malar flattening,... ORPHA:52056
Fetal Encasement Syndrome
Upper limb undergrowth, Bilateral trilobed lung, Lower limb undergrowth, Tetralogy of Fallot OMIM:613630
Digeorge Syndrome
Hypoplasia of the thymus, Atelectasis, Right aortic arch with mirror image branching, Tetralogy o... OMIM:188400
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Secundum atrial septal defect, Coarctation of aorta, Atrial septal defect, Ventricular septal def... OMIM:600987
Diencephalic Syndrome
Long penis, Hydrocephalus ORPHA:1672
Perlman Syndrome
Pancreatic islet-cell hyperplasia, Interrupted aortic arch, Micrognathia OMIM:267000
Chime Syndrome
Ventricular septal defect, Tetralogy of Fallot, Pulmonary valve atresia, Aplastic clavicle, Super... ORPHA:3474
Multisystemic Smooth Muscle Dysfunction Syndrome
Pulmonary artery dilatation, Atrial septal defect, Thoracic aortic aneurysm, Brachiocephalic arte... OMIM:613834
Adams-Oliver Syndrome 6
Foot oligodactyly, Ventricular septal defect, Hepatic fibrosis, Portal hypertension, Truncus arte... OMIM:616589
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Atrial septal defect, Persistence of primary teeth, Persistence of hem... OMIM:619769
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm OMIM:613780
Kaposi Sarcoma
Generalized lymphadenopathy, Venous insufficiency, Abnormality of the liver, Abnormality of the s... ORPHA:33276
Linear Skin Defects With Multiple Congenital Anomalies 2
Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot OMIM:300887
Joubert Syndrome
Situs inversus totalis ORPHA:475
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Short distal phalanx of finger, Truncus arteriosus, Ventricular septal defect OMIM:601355
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Hypogonadism, Primary amenorrhea, Azoospermia OMIM:614897
Tetraamelia Syndrome 2
Ventricular septal defect, Microretrognathia, Bilateral lung agenesis, Micrognathia, Hypoplastic ... OMIM:618021
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Hypoplastic left hea... OMIM:604169
Immunodeficiency 110 With Lymphoproliferation
Neutropenia, Lymphopenia, Atrial septal defect OMIM:614868
Aortic Valve Disease 2
Coarctation of aorta, Pulmonic stenosis, Aortic aneurysm, Calcification of the aorta, Bicuspid ao... OMIM:614823
Distal Duplication 5Q
Aplasia/Hypoplasia of the gallbladder, Dextrocardia, Ventricular septal defect, Carious teeth, Hy... ORPHA:96097
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Retrognathia, Atrial septal defect, Ventricular septal defect, Hypoplastic right heart, Patent du... OMIM:618142
Fetal Minoxidil Syndrome
Micrognathia, Ventricular septal defect ORPHA:1918
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618974
Cardiac Valvular Dysplasia 1
Mitral stenosis, Pulmonary artery atresia, Hypoplasia of right ventricle, Double inlet left ventr... OMIM:212093
Pericardial And Diaphragmatic Defect
Atrial septal defect, Tetralogy of Fallot, Pulmonary hypoplasia, Pulmonary sequestration, Abnorma... ORPHA:2847
Kagami-Ogata Syndrome
Retrognathia, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Limb undergrowt... OMIM:608149
Myotonic Dystrophy 2
Oligospermia, Hypogonadism OMIM:602668
Congenital Tracheomalacia
Single ventricle, Right aortic arch, Tetralogy of Fallot, Ventricular septal defect, Atrial septa... ORPHA:95430
Nemaline Myopathy 9
Micrognathia, Ventricular septal defect OMIM:615731
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Ventricular septal defect, Aortic aneurysm, Atrial septal defect, Abnormal heart morphology, Over... ORPHA:477817
Distal 7Q11.23 Microduplication Syndrome
Frontal encephalocele, Cryptorchidism, Hydrocephalus ORPHA:261102
Bone Dysplasia, Lethal Holmgren Type
Recurrent respiratory infections, Atrial septal defect, Anemia, Short ribs, Rhizomelia, Hepatomeg... ORPHA:1842
Right Pulmonary Artery, Anomalous Origin Of, Familial
Coarctation of aorta, Ventricular septal defect, Patent foramen ovale, Patent ductus arteriosus, ... OMIM:610338
Isolated Cleft Lip
Situs inversus totalis, Supernumerary maxillary incisor ORPHA:199302
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Recurrent respiratory infections, Pulmonary artery atresia, Tetralogy of Fallot, Ventricular sept... OMIM:618316
Neural Tube Defects, Susceptibility To
Myelomeningocele, Anencephaly, Spina bifida occulta, Hydrocephalus OMIM:182940
20Q13.33 Microdeletion Syndrome
Short lower limbs, Atrial septal defect, Hypoplastic aortic arch, Dilation of Virchow-Robin space... ORPHA:261311
Partial Androgen Insensitivity Syndrome
Perineal hypospadias, Micropenis, Ambiguous genitalia, Primary amenorrhea, Fused labia majora, Cl... ORPHA:90797
Alagille Syndrome 2
Cholestatic liver disease, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Cholesta... OMIM:610205
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Coarctation of aorta, Atrial septal defect, Thrombocytopenia, Normochromic anemia, Patent ductus ... OMIM:614857
Fryns Syndrome
Short distal phalanx of finger, Tetralogy of Fallot, Pulmonary hypoplasia, Abnormal aortic arch m... ORPHA:2059
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Marden-Walker Syndrome
Situs inversus totalis, Dextrocardia, Retrognathia, Ventricular septal defect, Micrognathia, Abno... ORPHA:2461
Biliary, Renal, Neurologic, And Skeletal Syndrome
Situs inversus totalis, Secundum atrial septal defect, Right aortic arch, Ventricular septal defe... OMIM:619534
Frontal Encephalocele
Encephalocele, Spina bifida, Hydrocephalus ORPHA:1931
Vacterl Association With Hydrocephalus
Hydrocephalus, Respiratory insufficiency, Aqueductal stenosis, Stillbirth, Respiratory failure OMIM:276950
Band Heterotopia
Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus OMIM:600348
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Non Rare In Europe: Central Precocious Puberty
Isosexual precocious puberty, Hydrocephalus, Premature thelarche ORPHA:759
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Patent ductus arteriosus, ... OMIM:618652
Alg3-Cdg
Pulmonary hypoplasia, Coarctation of the descending aortic arch, Cardiomyopathy ORPHA:79321
Acalvaria
Spina bifida, Holoprosencephaly, Hydrocephalus ORPHA:945
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Abnormal cerebral vascular morphology, Venous insufficiency ORPHA:745
49,Xyyyy Syndrome
Decreased testicular size, External genital hypoplasia, Ventriculomegaly, Abnormality of the test... ORPHA:99330
Carpenter Syndrome 2
Situs inversus totalis, Dextrocardia, Retrognathia, Atrial septal defect, Dental malocclusion, Ca... OMIM:614976
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Abnormal aortic morphology, Hypoplastic left heart, Patent ductus arteriosus, Micrognathia ORPHA:2001
Lessel-Kreienkamp Syndrome
Pulmonic stenosis, Atrial septal defect, Bicuspid aortic valve, Dental malocclusion, Patent foram... OMIM:619149
Gómez-López-Hernández Syndrome
Short stature, Hydrocephalus ORPHA:1532
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Respiratory insufficiency, Intrauterine growth retardation, Ventriculomegaly, CSF ... OMIM:610333
Diamond-Blackfan Anemia 16
Anemia, Pulmonic stenosis, Atrial septal defect OMIM:617408
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Hepatomegaly, Ventricular septal defect OMIM:614876
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Tetralogy of Fallot, Ventricular septal defect, Acute lymphoblastic leukemia, Hepatomegaly, Subva... OMIM:280000
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Anemia, Hypochromic Microcytic, With Iron Overload 2