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Gene: Drc1 MGI:2685906

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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
male infertility Drc1em1(IMPC)Bay HOM Early adult 0.00

Download data as:  TSV  XLS

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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.

Eye Morphology

VIP of left eye

10 Images

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Eye Morphology

VIP of right eye

10 Images

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Eye Morphology

VIP of left fundus

10 Images

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Eye Morphology

VIP of right fundus

10 Images

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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, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Primary Ciliary Dyskinesia
Atelectasis, Polysplenia, Abnormal inferior vena cava morphology, Atrial situs ambiguous, Pulmona... ORPHA:244
Ciliary Dyskinesia, Primary, 21
Ciliary dyskinesia OMIM:615294

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 17
Male infertility OMIM:617214
Mirror Movements 3
Situs inversus totalis OMIM:616059
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... OMIM:618433
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Abdominal situs inversus, Dextrocardia OMIM:619607
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
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
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... OMIM:619177
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... OMIM:620356
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Ciliary Dyskinesia, Primary, 53
Recurrent pneumonia, Abdominal situs inversus, Polysplenia, Situs inversus totalis, Right aortic ... OMIM:620642
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect OMIM:601322
Laterality Defects, Autosomal Dominant
Asplenia, Situs inversus totalis, Heterotaxy OMIM:601086
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
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, Male infertility, Oligozoospe... OMIM:619696
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Heterotaxy, Visceral, 8, Autosomal
Aortopulmonary collateral arteries, Hypoplastic left heart, Unbalanced atrioventricular canal def... OMIM:617205
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Heterotaxy, Visceral, 2, Autosomal
Bilateral superior vena cava, Left atrial isomerism, Abdominal situs inversus, Polysplenia, Atrio... OMIM:605376
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
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
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve... OMIM:616749
Right Atrial Isomerism
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Polys... OMIM:208530
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... OMIM:301101
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... OMIM:618300
Oocyte/Zygote/Embryo Maturation Arrest 16
Infertility OMIM:617234
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia, Situs inversus totalis, Dextrocardia OMIM:618948
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... OMIM:617959
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Nondisjunction
Decreased fertility OMIM:158250
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Heterotaxy, Visceral, 4, Autosomal
Common atrium, Total anomalous pulmonary venous return, Bilateral superior vena cava, Polysplenia... OMIM:613751
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Nasal polyposis, Ciliary dyskinesia, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Absence of the sacrum, Abdominal situs inversus, Atriove... OMIM:270100
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Asplenia, Unbalanced atrioventricular canal defect, Dextrotransposition of the great arteries, Ve... OMIM:619657
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Male infertility ORPHA:98797
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Bilateral trilobed lung, Left superior vena cava draining to coronary ... OMIM:306955
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Reduced ... OMIM:617091
Primary Ciliary Dyskinesia
Atelectasis, Polysplenia, Abnormal inferior vena cava morphology, Atrial situs ambiguous, Pulmona... ORPHA:244
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Immotile cilia, Immotile sperm, Absent inner dynein arms, Respiratory i... OMIM:614874
Ciliary Dyskinesia, Primary, 11
Immotile cilia, Abnormal central microtubular pair morphology of respiratory motile cilia, Reduce... OMIM:612649
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... OMIM:620438
Spermatogenic Failure 44
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi... ORPHA:860
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... OMIM:606217
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Abnormal ciliary moti... OMIM:613807
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Abdominal situs ... OMIM:620570
Ciliary Dyskinesia, Primary, 13
Immotile cilia, Absent inner dynein arms, Infertility, Absent outer dynein arms, Ciliary dyskinesia OMIM:613193
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Right aortic arch, Bronchiectasis, Dextrocardia OMIM:617577
Ciliary Dyskinesia, Primary, 26
Immotile cilia, Infertility, Reduced sperm motility, Respiratory insufficiency due to defective c... OMIM:615500
Isochromosomy Yq
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... ORPHA:98798
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, 45
Immotile cilia, Male infertility, Absent inner and outer dynein arms OMIM:618801
Genitopalatocardiac Syndrome
Micrognathia, Right aortic arch, Ventricular septal defect, Double outlet right ventricle, Transp... OMIM:231060
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Ciliary Dyskinesia With Defective Radial Spokes
Nasal polyposis, Immotile cilia, Immotile sperm, Absent respiratory ciliary axoneme radial spokes... OMIM:242670
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Nephronophthisis 14
Situs inversus totalis OMIM:614844
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Reduce... OMIM:612650
Marfanoid Habitus With Situs Inversus
Aortic root aneurysm, Situs inversus totalis, Mitral valve prolapse, Persistent left superior ven... OMIM:609008
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... OMIM:618254
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility, Ciliary dyskinesia OMIM:619436
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Ciliary Dyskinesia, Primary, 32
Immotile cilia, Absent respiratory ciliary axoneme radial spokes, Infertility, Ciliary dyskinesia OMIM:616481
Oocyte/Zygote/Embryo Maturation Arrest 14
Female infertility, Oocyte maturation arrest OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Ciliary Dyskinesia, Primary, 6
Abnormal respiratory motile cilium morphology, Absent/shortened outer dynein arms, Abnormal cilia... OMIM:610852
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia OMIM:215520
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Abnormal lung ... OMIM:615415
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Hypoglossia With Situs Inversus
Asplenia, Micrognathia, Situs inversus totalis, Polysplenia OMIM:612776
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiomyopathy, Sideroblastic anemia, Situs inversus totalis, Thiamine-responsive megaloblastic a... OMIM:249270
Spermatogenic Failure 77
Azoospermia, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Male infertility OMIM:620103
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Cholestasis, Hypertrophic cardiomyopathy, Situs inver... OMIM:615382
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ... ORPHA:261243
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Nasal polyposis, Immotile sperm, Infe... OMIM:613808
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... OMIM:613854
Dextrocardia
Abnormality of abdominal situs, Pancreatic hypoplasia, Abnormal lung lobation, Abnormal heart mor... ORPHA:1666
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia OMIM:108420
Ciliary Dyskinesia, Primary, 22
Nasal polyposis, Immotile cilia, Infertility, Reduced sperm motility, Respiratory insufficiency d... OMIM:615444
Ciliary Dyskinesia, Primary, 19
Nasal polyposis, Immotile cilia, Absent inner and outer dynein arms, Respiratory insufficiency du... OMIM:614935
Cardiofacioneurodevelopmental Syndrome
Abdominal situs inversus, Atrioventricular canal defect, Micrognathia, Ventricular septal defect,... OMIM:619123
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Situs inversus totalis OMIM:620032
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Abnormal lung lobation, Tetralogy of Fallot, Abnor... ORPHA:3097
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis OMIM:608644
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility ORPHA:3000
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Hypoplastic left heart, Aplasia/Hypoplasia of the thymus, Tetralogy of F... ORPHA:1727
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... ORPHA:1330
Ciliary Dyskinesia, Primary, 36, X-Linked
Situs inversus totalis OMIM:300991
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility, Ciliary dyskinesia OMIM:612444
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia OMIM:225050
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ... ORPHA:3384
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Dextrocardia OMIM:614679
Ciliary Dyskinesia, Primary, 35
Abdominal situs ambiguus, Situs inversus totalis OMIM:617092
Ciliary Dyskinesia, Primary, 7
Situs inversus totalis, Dextrocardia OMIM:611884
Ciliary Dyskinesia, Primary, 25
Recurrent pneumonia, Polysplenia, Situs inversus totalis, Chronic bronchitis, Recurrent sinusitis... OMIM:615482
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat... OMIM:607941
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Short humerus, Persistent left superior vena cava, Transposition o... OMIM:314390
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Bardet-Biedl Syndrome 8
Situs inversus totalis OMIM:615985
Ciliary Dyskinesia, Primary, 28
Respiratory insufficiency due to defective ciliary clearance, Dynein arm defect of respiratory mo... OMIM:615505
Ciliary Dyskinesia, Primary, 10
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia OMIM:612518
Ciliary Dyskinesia, Primary, 29
Situs inversus totalis OMIM:615872
Deleted in azoospermia
Azoospermia OMIM:400003
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Situs inversus totalis, Atrial situs inv... OMIM:615067
Ciliary Dyskinesia, Primary, 16
Absent outer dynein arms, Abnormal ciliary motility, Ciliary dyskinesia OMIM:614017
Scimitar Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, Le... ORPHA:185
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Oligozoospermia OMIM:615703
Ciliary Dyskinesia, Primary, 24
Immotile cilia, Infertility, Ciliary dyskinesia OMIM:615481
Ciliary Dyskinesia, Primary, 23
Recurrent pneumonia, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Bronchiectasis OMIM:615451
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Aminopterin/Methotrexate Embryofetopathy
Micromelia, Tetralogy of Fallot, Micrognathia, Situs inversus totalis, Ventricular septal defect,... ORPHA:1908
White Forelock With Malformations
Aplasia/Hypoplasia of the distal phalanges of the toes, Atrial septal defect, Prominent veins on ... OMIM:277740
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619949
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Chronic bronchitis, Ventricular septal defect, Chronic sinusitis, Dextroc... OMIM:616037
Ciliary Dyskinesia, Primary, 38
Immotile cilia, Absent inner and outer dynein arms, Infertility OMIM:618063
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Biliary cirrho... OMIM:208540
Ciliary Dyskinesia, Primary, 2
Nasal polyposis, Immotile cilia, Absent inner and outer dynein arms, Infertility, Ciliary dyskinesia OMIM:606763
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Micrognathia, Ventricular septal defect, Transposition of the great arteries... ORPHA:1913
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... OMIM:217095
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Abdominal situs inversus, Chronic sinusitis, Recurr... OMIM:618699
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Tetralogy of Fallot, Right aortic arch, Truncus arteriosus, Ventricular ... OMIM:617478
Ciliary Dyskinesia, Primary, 27
Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Chronic sinusitis, Recurrent res... OMIM:615504
Meacham Syndrome
Accessory spleen, Hypoplastic left heart, Tetralogy of Fallot, Scimitar anomaly, Right aortic arc... OMIM:608978
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Bicuspid aortic valve, Short 5th metacarpal, Patent ductus arteri... ORPHA:228190
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Nasal polyposis, Reduced sperm moti... OMIM:608647
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short toe, Short finger, Short 5th metacarpal, Pseudocoarctation of the aorta, Bicuspid aortic va... OMIM:604381
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Double Outlet Right Ventricle
Hypoplastic left heart, Aplasia/Hypoplasia of the thymus, Tetralogy of Fallot, Heterotaxy, Truncu... ORPHA:3426
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility ORPHA:48
Colonic Atresia
Abnormal mesentery morphology, Abdominal situs inversus ORPHA:1198
Developmental And Epileptic Encephalopathy 102
Hepatomegaly, Situs inversus totalis, Atrial septal defect OMIM:619881
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Hypoplastic left heart, Arteria lusoria, Unbalanced atriovent... OMIM:620294
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:616950
Meckel Syndrome, Type 7
Aortic valve stenosis, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Situs inversus totalis... OMIM:267010
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Decreased testicular size, Delayed menarche, Azoospermia, Decreased female lib... ORPHA:52901
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Hydrocephalus OMIM:209970
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Diabetic Embryopathy
Tetralogy of Fallot, Micrognathia, Abnormal aortic morphology, Abnormality of the pulmonary arter... ORPHA:1926
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... ORPHA:1455
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Tetralogy of Fallot, Atrioventri... ORPHA:210122
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Hepatic bridging fibrosis, Howell-Jolly bodies, Portal inflammation, Ventricular septal defect, P... OMIM:613759
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
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
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Pulmonary hypoplasia, A... ORPHA:99050
Total Anomalous Pulmonary Venous Return 1
Total anomalous pulmonary venous return, Dextrocardia OMIM:106700
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Young Syndrome
Azoospermia OMIM:279000
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hydrocephalus, Hypergonadotropic hypogonadism ORPHA:2183
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral artery hypoplasia, Aplasia of posterior communicating artery, Situs inversus totalis, M... OMIM:613686
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Polysplenia, Situs inversus totalis, Partial atrioventricular canal defect, Chronic sinusitis, Pr... OMIM:619608
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation OMIM:600195
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Ciliary Dyskinesia, Primary, 44
Heterotaxy, Bronchiectasis, Recurrent sinusitis OMIM:618781
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Male infertility, Immotile cilia, Communicating hydrocephalus, Absent outer dyne... OMIM:244400
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Micrognathia, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Pulmonary l... OMIM:265380
Atrial Septal Defect 4
Coarctation of aorta, Atrial septal defect, Patent foramen ovale OMIM:611363
Cardiac Diverticulum
Aortic valve stenosis, Aplasia/Hypoplasia of the sternum, Mitral valve prolapse, Ventricular sept... ORPHA:1686
Cardiac-Urogenital Syndrome
Interrupted aortic arch, Accessory spleen, Hypoplastic left heart, Coronary sinus enlargement, Te... OMIM:618280
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Micrognathia, Patent ductus arteriosus, Dextrocardia ORPHA:2863
Autosomal Recessive Spastic Paraplegia Type 46
Decreased testicular size, Infertility, Abnormal sperm head morphology, Reduced sperm motility, A... ORPHA:320391
Agnathia-Otocephaly Complex
Secundum atrial septal defect, Micrognathia, Situs inversus totalis, Mandibular aplasia, Pulmonar... OMIM:202650
Familial Nasal Acilia
Abnormal respiratory motile cilium morphology ORPHA:922
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Stroke, Persistent ... ORPHA:1457
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Short toe, Aplasia of the middle phalanx of the 4th ... OMIM:615297
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... ORPHA:216694
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Holt-Oram Syndrome
Hypoplastic scapulae, Short forearm, Micrognathia, Mitral valve prolapse, Ventricular septal defe... OMIM:142900
Velocardiofacial Syndrome
Interrupted aortic arch, Right aortic arch with mirror image branching, Retrognathia, Tetralogy o... OMIM:192430
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Hydrocephalus OMIM:166990
Intellectual Developmental Disorder, Autosomal Dominant 66
Cerebral cavernous malformation, Secundum atrial septal defect, Aortic root aneurysm, Transpositi... OMIM:619910
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... OMIM:618780
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Pineocytoma
Increased CSF protein concentration, Hydrocephalus ORPHA:251912
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation ORPHA:1705
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Mosaic Trisomy 9
Micromelia, Abnormal lung lobation, Abnormal heart valve morphology, Endocardial fibroelastosis, ... ORPHA:99776
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Total absence of the pericardium, Hypoplastic tricuspid valve, Pancreati... OMIM:600001
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Secundum atrial septal defect, Patellar hypoplasia, Microgn... ORPHA:2257
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Hypoplastic Left Heart Syndrome
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic... ORPHA:2248
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Biemond Syndrome Ii
Short stature, Hydrocephalus OMIM:210350
Congenital Heart Defects, Multiple Types, 3
Tetralogy of Fallot, Persistent left superior vena cava, Atrial septal defect, Abnormal heart mor... OMIM:614954
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis OMIM:615434
Craniofacioskeletal Syndrome
Interrupted aortic arch, Small hand, Micrognathia, Absent gallbladder, Ventricular septal defect,... OMIM:300712
Spermatogenic Failure 28
Decreased testicular size, Non-obstructive azoospermia, Male infertility OMIM:618086
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ven... ORPHA:99125
Feingold Syndrome 1
Interrupted aortic arch, Accessory spleen, Annular pancreas, Short toe, Polysplenia, Short thumb,... OMIM:164280
Heart And Brain Malformation Syndrome
Interrupted aortic arch, Ventricular septal defect OMIM:616920
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Abnormal aortic arch morphology, Aortic valve stenosis, Abnor... ORPHA:2306
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Interrupted aortic arch, Hypoplastic tricuspid valve, Pancreatic hypoplasia, Congenital defect of... ORPHA:2255
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Familial Visceral Myopathy
Micrognathia, Abdominal situs inversus ORPHA:2604
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Spermatogenic Failure 14
Azoospermia, Male infertility, Round spermatid arrest OMIM:615842
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ... OMIM:618719
8P23.1 Microdeletion Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Atrioventricular canal ... ORPHA:251071
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Hydrocephalus, Oligozoospermia, Micropenis, Macroorchidi... ORPHA:8
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Carious teeth, Arteriovenous malformation, Hypoplasia of the zyg... ORPHA:1110
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Patent ductus arteriosus, Pulmonic stenosis, Ventricular septal defect OMIM:249670
Transaldolase Deficiency
Biventricular hypertrophy, Hepatosplenomegaly, Coarctation of aorta, Cirrhosis, Atrial septal def... ORPHA:101028
Skraban-Deardorff Syndrome
Micrognathia, Right aortic arch, Hyperplasia of the maxilla, Ventricular septal defect OMIM:617616
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Progressive Non-Infectious Anterior Vertebral Fusion
Micrognathia, Abdominal situs inversus ORPHA:2062
Aortic Arch Anomaly With Peculiar Facies And Impaired Intellectual Development
Right aortic arch with mirror image branching OMIM:107500
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal defect, Transposition of th... ORPHA:1461
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Mesomelic/rhizomelic limb shortening, Abnormal mitral valve ... ORPHA:1354
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Abnormal hear... ORPHA:3400
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Hepatic cysts, Dextrocardia, Hepatomegaly, Jaundice OMIM:613095
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Increased mean corpuscular volume, Short thumb, Retrognathia, Persistenc... OMIM:612561
Fadd-Related Immunodeficiency
Hepatic fibrosis, Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short toe, Short 5th metacarpal, 11 pairs of ribs, Perimembranous ventricular septal defect, Pulm... OMIM:617877
Retinitis Pigmentosa 6
Immotile cilia OMIM:312612
Stormorken Syndrome
Howell-Jolly bodies, Stroke-like episode, Subarachnoid hemorrhage, Thrombocytopenia, Anemia, Aspl... OMIM:185070
Feingold Syndrome Type 1
Interrupted aortic arch, Short thumb, Abnormal heart morphology, Short middle phalanx of finger, ... ORPHA:391641
Sweeney-Cox Syndrome
Short distal phalanx of finger, Micrognathia, Patent foramen ovale, Short clavicles, Asplenia, Pa... OMIM:617746
Pagod Syndrome
Hypoplastic left heart, Pulmonary artery hypoplasia, Abnormality of the spleen, Situs inversus to... ORPHA:991
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Transposition of the great arteries, Patent foramen ovale OMIM:616789
Carpenter Syndrome 1
Hypoplasia of the maxilla, Polysplenia, Tetralogy of Fallot, Persistence of primary teeth, Microg... OMIM:201000
Ciliary Dyskinesia, Primary, 21
Ciliary dyskinesia OMIM:615294
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Hypogonadism, Decreased testicular size, Azoospermia, Primary amenorrhea, Infertility OMIM:229070
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Hypospadias, Hydrocephalus ORPHA:141333
Spermatogenic Failure 13
Azoospermia, Male infertility OMIM:615841
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Wolf-Hirschhorn Syndrome
Short thumb, Abdominal situs inversus, Abnormal heart valve morphology, Abnormality of the gallbl... ORPHA:280
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart OMIM:241550
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Micrognathia, Abnormal aortic morphology, Abnormality of the pulmonary arter... ORPHA:1166
Hallermann-Streiff Syndrome
Small hand, Natal tooth, Abdominal situs inversus, Micrognathia, Malar flattening, Supernumerary ... ORPHA:2108
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Hydrocephalus OMIM:618709
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Right aortic arch with mirror image branching, Agenesis of pulmonary ves... OMIM:601186
Spermatogenic Failure, X-Linked, 4
Azoospermia, Male infertility OMIM:301077
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Bardet-Biedl Syndrome 17
Short fourth metatarsal, Situs inversus totalis, Dextrocardia OMIM:615994
Aortic Valve Disease 3
Aortic valve stenosis, Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascendi... OMIM:618496
Functioning Gonadotropic Adenoma
Abnormality of the menstrual cycle, Decreased female libido, Ovarian cyst, Enlarged polycystic ov... ORPHA:91348
Tetrasomy 15Q26
Hypoplastic aortic arch, Microretrognathia, Patent ductus arteriosus, Atrial septal defect OMIM:614846
Chudley-Mccullough Syndrome
Ventriculomegaly, Hydrocephalus OMIM:604213
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep... OMIM:614980
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Situs inversus totalis OMIM:614833
Developmental And Epileptic Encephalopathy 66
Macrodontia of permanent maxillary central incisor, Ventricular septal defect, Atrial septal defe... OMIM:618067
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis, Mandibular aplasia ORPHA:990
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Leukopenia, Splenomegaly, Ventricular septal defect, Coarctation of aorta, Hepatomeg... OMIM:620210
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Splenomega... ORPHA:251380
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Short distal phalanx of finger, Abnormal lung lobation, Micrognathia, Abnormal aortic morphology,... ORPHA:2516
Adrenal Hypoplasia, Congenital
Precocious puberty, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Oligozoospermia OMIM:300200
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Proteus Syndrome
Mandibular hyperostosis, Facial hyperostosis, Venous malformation, Splenomegaly, Lymphangioma OMIM:176920
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Short stature, Ciliary dyskinesia ORPHA:1882
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Ventricular septal defect, Overriding aorta, Atrial septal defect, Patent ductus arteriosus, Vasc... OMIM:601927
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Azoospermia, Infertility, Amenorrhea OMIM:602390
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta, Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Ellis Van Creveld Syndrome
Short distal phalanx of finger, Acute leukemia, Delayed eruption of teeth, Micromelia, Emphysema,... ORPHA:289
Grange Syndrome
Arterial stenosis, Patent ductus arteriosus, Short palm, Ventricular septal defect ORPHA:79094
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation OMIM:617967
Nephronophthisis 2
Situs inversus totalis, Pulmonary hypoplasia OMIM:602088
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Interrupted aortic arch, Hypertrophic cardiomyopathy, Hepatic steatosis, Patent foramen ovale, Sh... ORPHA:17
Igg4-Related Aortitis
Abnormal aortic arch morphology, Aortic dissection, Hypereosinophilia, Abnormal common carotid ar... ORPHA:449400
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Short 5th finger, Absent gallbladder, Ventricular septal defect, Atrial ... ORPHA:163979
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection, Mucoid extracellular... ORPHA:229
1Q21.1 Microduplication Syndrome
Hydrocephalus, Hypospadias, Cryptorchidism ORPHA:250994
Kleeblattschaedel
Hydrocephalus OMIM:148800
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Bilateral lung agenesis, Patent ductus arteriosus, Abnormal cardiac septum ... OMIM:601612
Heme Oxygenase 1 Deficiency
Diffuse alveolar hemorrhage, Cervical lymphadenopathy, Coombs-positive hemolytic anemia, Lymphade... OMIM:614034
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus, Hydrocephalus OMIM:258320
Phaver Syndrome
Short thumb, Ventricular septal defect, Coarctation of aorta, Pulmonary artery atresia, Hypoplast... ORPHA:2876
1Q21.1 Microdeletion Syndrome
Interrupted aortic arch, Short foot, Patent ductus arteriosus, Abnormal cardiac septum morphology ORPHA:250989
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Tetralogy of Fallot, Abnormal heart morphology, Ventricu... ORPHA:261183
Aortic Aneurysm, Familial Thoracic 4
Aortic dissection, Anterior cerebral artery stenosis, Coronary artery atherosclerosis, Stroke, Po... OMIM:132900
Weiss-Kruszka Syndrome
Dextrotransposition of the great arteries, Bicuspid aortic valve, Left ventricular hypertrophy, V... OMIM:618619
Ciliary Dyskinesia, Primary, 33
Ciliary dyskinesia OMIM:616726
Hadziselimovic Syndrome
Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Pu... OMIM:612946
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Pulmonary sequestration, Patent ductus arteriosus, Ventricular septal defect OMIM:618330
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Dextrotransposition of the great arteries, Ventricular septal defect OMIM:619995
Premature Ovarian Failure 10
Decreased testicular size, Azoospermia, Hypoplasia of the ovary, Primary amenorrhea, Premature ov... OMIM:612885
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Androgen Insensitivity, Partial
Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi... OMIM:312300
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect ORPHA:251076
14Q11.2 Microdeletion Syndrome
Micrognathia, Patent ductus arteriosus, Ventricular septal defect ORPHA:261120
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Peripheral arterial stenosis, Ventricular septal defect, Patent ductus arteriosus, Varicose veins OMIM:126320
Absence Of The Pulmonary Artery
Recurrent pneumonia, Bronchiectasis, Abnormal coronary artery morphology, Tetralogy of Fallot, Ab... ORPHA:980
Li-Campeau Syndrome
Patellar hypoplasia, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Paten... OMIM:619189
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Abnormal lung lobation, Atrioventricular canal defec... ORPHA:1120
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Tetralogy of Fallot, Micrognathia, Persistent left superior vena cava, Overriding aorta, Double o... ORPHA:3304
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,... OMIM:108800
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Atrial septal defect, Ventricular septal defect OMIM:253300
Asplenia, Isolated Congenital
Asplenia, Howell-Jolly bodies, Thrombocytosis OMIM:271400
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Partial atrioventricular canal defect, Hepatic steatosis, Ventricular sep... OMIM:615996
14Q24.1Q24.3 Microdeletion Syndrome
Short thumb, Abnormal heart morphology, Ventricular septal defect, Truncus arteriosus, Atrial sep... ORPHA:401935
Encephalocraniocutaneous Lipomatosis
Interrupted aortic arch, Aortic valve stenosis, Craniofacial hyperostosis, Abnormal aortic morpho... ORPHA:2396
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, Coarctation of aorta, Dextrocardia OMIM:618929
Ververi-Brady Syndrome
Transposition of the great arteries OMIM:617982
Pseudotrisomy 13 Syndrome
11 pairs of ribs, Complete atrioventricular canal defect, Ventricular septal defect, Coarctation ... OMIM:264480
Congenital Myopathy 11
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:619967
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Diets-Jongmans Syndrome
Heterotaxy, Interrupted inferior vena cava with azygous continuation, Ventricular septal defect OMIM:618846
Renpenning Syndrome
Mandibular prognathia, Malar flattening, Heterotaxy ORPHA:3242
Thoracoabdominal Syndrome
Transposition of the great arteries, Patent ductus arteriosus, Ectopia cordis, Pulmonary hypoplasia OMIM:313850
Intellectual Developmental Disorder, Autosomal Dominant 21
Coarctation of aorta, Incisor macrodontia, Patent ductus arteriosus, Atrial septal defect OMIM:615502
Catel-Manzke Syndrome
Micrognathia, Malar flattening, Atrial septal defect, Ventricular septal defect ORPHA:1388
Aortic Arch Interruption
Abnormal heart morphology, Truncus arteriosus, Ventricular septal defect, Bicuspid aortic valve, ... ORPHA:2299
Holt-Oram Syndrome
Hypoplastic left heart, Aplasia/Hypoplasia of the radius, Absent thumb, Atrioventricular canal de... ORPHA:392
Klippel-Trénaunay Syndrome
Microcytic anemia, Abnormal tricuspid valve morphology, Abnormality of the pulmonary artery, Veno... ORPHA:90308
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Small hand, Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Retrognathia, Moya... OMIM:300845
Recombinant Chromosome 8 Syndrome
Tetralogy of Fallot, Micrognathia, Malar flattening, Ventricular septal defect, Double outlet rig... OMIM:179613
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Micrognathia, Ventricular sep... OMIM:220210
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Primary am... OMIM:614837
Ring Chromosome 21 Syndrome
Amenorrhea, Azoospermia, Holoprosencephaly, Infertility ORPHA:1445
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Ventricular septal defect OMIM:619717
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... OMIM:609637
Chondrodysplasia, Blomstrand Type
Micromelia, Micrognathia, Malar flattening, Short ribs, Preductal coarctation of the aorta OMIM:215045
Transaldolase Deficiency
Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Patent ... OMIM:606003
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Congenital Rubella Syndrome
Splenomegaly, Abnormality of the pulmonary artery, Ventricular septal defect, Anemia, Atrial sept... ORPHA:290
8P Inverted Duplication/Deletion Syndrome
Retrognathia, Tetralogy of Fallot, Abnormal heart morphology, Micrognathia, Abnormality of dental... ORPHA:96092
Meckel Syndrome, Type 1
Malformation of the hepatic ductal plate, Accessory spleen, Natal tooth, Micrognathia, Splenomega... OMIM:249000
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility OMIM:264110
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
Noonan Syndrome 12
Tetralogy of Fallot, Lymphopenia, 11 pairs of ribs, Ventricular septal defect, Thrombocytopenia OMIM:618624
Chromosome 15Q25 Deletion Syndrome
Polysplenia, Coronary artery fistula, Macrocytic anemia, Ventricular septal defect, Dextrocardia,... OMIM:614294
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Poland Syndrome
Dextrocardia OMIM:173800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Hydrocephalus OMIM:614830
Masa Syndrome
Short stature, Ventriculomegaly, Hydrocephalus OMIM:303350
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Micrognathia, Atrial septal defect, Ventricular septal defect OMIM:608227
Renpenning Syndrome 1
Tetralogy of Fallot, Micrognathia, Situs inversus totalis, Malar flattening, Ventricular septal d... OMIM:309500
Lead Poisoning
Decreased male libido, Abnormality of the menstrual cycle, Decreased female libido, Abnormal sper... ORPHA:330015
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect OMIM:617044
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Anemia, Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect ORPHA:3405
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Ventricular septal... OMIM:616276
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Short 5th finger, Secundum atrial septal defect, Short 2nd finger, Ventricular septal defect, Coa... OMIM:600987
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Stroke, Megaloblastic anemia, Atrial septal defect, Thrombocytopenia ORPHA:49827
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Bicus... OMIM:618845
Digeorge Syndrome
Interrupted aortic arch, Right aortic arch with mirror image branching, Recurrent pneumonia, Chol... OMIM:188400
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Abnormality of the Leydig cells, Azoospermia, Ovarian cyst, Hypogonadotropic h... OMIM:228300
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Anemia, Megaloblastic anemia, Atrial septal defect, Dextrocardia, Neutropenia, Hepa... OMIM:277380
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Vascular ring, Ventricular septal defect OMIM:603387
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hypogonadism, Hydrocephalus, Cryptorchidism OMIM:601794
Meckel Syndrome
Accessory spleen, Micrognathia, Situs inversus totalis, Congenital hepatic fibrosis, Pancreatic f... ORPHA:564
48,Xyyy Syndrome
Male hypogonadism, Azoospermia ORPHA:99329
Hypomandibular Faciocranial Dysostosis
Hypoplasia of the maxilla, Micrognathia, Malar flattening, Atrial septal defect, Patent ductus ar... OMIM:241310
Distal Triplication 15Q
Retrognathia, Abnormal heart morphology, Micrognathia, Atrial septal defect, Hypoplastic aortic a... ORPHA:314588
Angioosteohypotrophic Syndrome
Upper limb undergrowth, Venous malformation, Aplasia/hypoplasia involving bones of the upper limb... ORPHA:75508
Perlman Syndrome
Interrupted aortic arch, Micrognathia, Pancreatic islet-cell hyperplasia OMIM:267000
Diencephalic Syndrome
Long penis, Hydrocephalus ORPHA:1672
Maternal Uniparental Disomy Of Chromosome X
Azoospermia, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:261519
Pituitary Dermoid And Epidermoid Cysts
Hypogonadism, Amenorrhea, Oligomenorrhea, Oligozoospermia ORPHA:91351
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Short 5th finger, Postaxial oligodactyly, Malar flattening, Atrial septal defect, Aplasia/Hypopla... ORPHA:52056
Adams-Oliver Syndrome 6
Hepatic fibrosis, Foot oligodactyly, Portal hypertension, Splenomegaly, Ventricular septal defect... OMIM:616589
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Recurrent upper respiratory tract infections, Recurrent pneumonia, Persistence of hemoglobin F, P... OMIM:619769
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Venous insufficiency, Generalized lymphadeno... ORPHA:33276
Thakker-Donnai Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Ventricular septal defect ORPHA:1780
Cardiac Valvular Dysplasia 1
Left aortic arch with cervical origin of the right subclavian artery, Arteria lusoria, Valvular p... OMIM:212093
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection OMIM:613780
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Br... ORPHA:95430
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Transposition of the great arteries, Atrial septal defect, Pulmonic steno... OMIM:253800
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Hypogonadism, Decreased testicular size, Azoospermia, Cryptorchidism, Primary amenorrhea, Micropenis OMIM:614897
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Cryptorchidism, Frontal encephalocele ORPHA:261102
Linear Skin Defects With Multiple Congenital Anomalies 2
Tetralogy of Fallot, Ventricular hypertrophy, Atrial septal defect OMIM:300887
Smooth Muscle Dysfunction Syndrome
Pulmonary artery dilatation, Dilatation of the cerebral artery, Aortic arch aneurysm, Common caro... OMIM:613834
Joubert Syndrome
Situs inversus totalis ORPHA:475
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Retrognathia, Micrognathia, Ventricular septal defect, Atrial septal defect, Hypoplastic right he... OMIM:618142
Distal Duplication 5Q
Carious teeth, Absent thumb, Micrognathia, Ventricular septal defect, Aplasia/Hypoplasia of the g... ORPHA:96097
Left Ventricular Noncompaction 1
Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop... OMIM:604169
Fetal Minoxidil Syndrome
Micrognathia, Ventricular septal defect ORPHA:1918
Pericardial And Diaphragmatic Defect
Tetralogy of Fallot, Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Mit... ORPHA:2847
Isolated Cleft Lip
Supernumerary maxillary incisor, Situs inversus totalis ORPHA:199302
Kagami-Ogata Syndrome
Hypoplasia of the maxilla, Retrognathia, Micrognathia, Splenomegaly, Ventricular septal defect, L... OMIM:608149
Aortic Valve Disease 2
Aortic valve stenosis, Calcification of the aorta, Patent foramen ovale, Bicuspid aortic valve, A... OMIM:614823
Nemaline Myopathy 9
Micrognathia, Ventricular septal defect OMIM:615731
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618974
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Persistent left super... ORPHA:477817
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
20Q13.33 Microdeletion Syndrome
Abnormal cardiac ventricle morphology, Dilation of Virchow-Robin spaces, Atrial septal defect, Hy... ORPHA:261311
Fliedner-Zweier Syndrome
Bicuspid aortic valve, Hypoplastic aortic arch, Ventricular septal defect OMIM:620511
Fryns Syndrome
Abnormal aortic arch morphology, Short distal phalanx of finger, Tetralogy of Fallot, Micrognathi... ORPHA:2059
Myotonic Dystrophy 2
Hypogonadism, Oligozoospermia OMIM:602668
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies