Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
forkhead box J1
Synonyms:
FKHL-13,  Hfh4,  HFH-4

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Foxj1 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 Foxj1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Primary Ciliary Dyskinesia
Situs inversus totalis, Transposition of the great arteries, Hydrocephalus, Abnormal atrial arran... ORPHA:244
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus, Abdominal situs inversus OMIM:618699

The table below shows human diseases predicted to be associated to Foxj1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Mirror Movements 3
Situs inversus totalis OMIM:616059
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot OMIM:601127
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Cardiomyopathy, Familial Hypertrophic, 25
Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Atrioventricular Septal Defect, Susceptibility To, 2
Right aortic arch with mirror image branching, Atrioventricular canal defect, Pulmonary artery at... OMIM:606217
Cardiomyopathy, Familial Restrictive, 1
Left atrial enlargement, Restrictive cardiomyopathy, Left ventricular hypertrophy OMIM:115210
Atrial Septal Defect 2
Atrioventricular canal defect, Dextrocardia, Pulmonic stenosis, Patent ductus arteriosus, Atrial ... OMIM:607941
Heterotaxy, Visceral, 12, Autosomal
Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P... OMIM:619702
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen ... OMIM:611556
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Cardiomyocyte hypertrophy, Myofiber disarray, Left ventricular hypert... OMIM:613424
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial septal defect, Ventricu... OMIM:617912
Ventricular Septal Defect 1
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... OMIM:614429
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Heterotaxy, Visceral, 5, Autosomal
Atrioventricular canal defect, Partial anomalous pulmonary venous return, Double inlet left ventr... OMIM:270100
Atrial Fibrillation, Familial, 6
Left atrial enlargement, Left ventricular hypertrophy OMIM:612201
Cardiomyopathy, Familial Hypertrophic, 20
Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:613876
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar... OMIM:613751
Cardiomyopathy, Familial Hypertrophic, 21
Mitral valve prolapse, Myofiber disarray, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:614676
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Hypoplastic pulmonary veins, Right aortic arch, Pulmonary ar... OMIM:613854
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia OMIM:618948
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Hypoplasia of right ventricle, Arteria lusoria, Muscular ventricular sep... OMIM:212093
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot... OMIM:614779
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fallot, ... OMIM:615779
Conotruncal Heart Malformations
Transposition of the great arteries, Truncus arteriosus, Coarctation of aorta, Double outlet righ... OMIM:217095
Heterotaxy, Visceral, 8, Autosomal
Congenitally corrected transposition of the great arteries with ventricular septal defect, Dextro... OMIM:617205
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Abdominal situs inversus OMIM:619607
Nephronophthisis 14
Situs inversus totalis OMIM:614844
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Cardiomyopathy, Familial Hypertrophic, 18
Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:613874
Right Atrial Isomerism
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Pulmonary artery atres... OMIM:208530
Genitopalatocardiac Syndrome
Double outlet right ventricle, Right aortic arch, Transposition of the great arteries, Ventricula... OMIM:231060
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Left ventricular noncompaction, Dilated cardiomyopathy, Left ventricular hy... OMIM:601493
Tricuspid Atresia
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for... ORPHA:1209
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Hypertrophic cardiomyopathy, Cardiomyocyte hypertrophy, Myofiber disarray, ... OMIM:612158
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Absent outer dynein arms, Atrioventricular canal defect, Azoospermia, Inf... OMIM:618300
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Situs inversus totalis, Male infertility, Oligozoospermia, Reduced sperm mo... OMIM:620438
Congenital Heart Defects, Multiple Types, 9
Arteria lusoria, Transposition of the great arteries, Single ventricle of indeterminate morpholog... OMIM:620294
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis OMIM:608644
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect, Hypoplastic left heart OMIM:614474
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Patent ductus arteriosus, Bic... OMIM:618845
Ciliary Dyskinesia, Primary, 36, X-Linked
Situs inversus totalis OMIM:300991
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Situs inversus totalis OMIM:620032
Total Anomalous Pulmonary Venous Return 1
Dextrocardia, Total anomalous pulmonary venous return OMIM:106700
Ciliary Dyskinesia, Primary, 52
Situs inversus totalis, Transposition of the great arteries, Patent ductus arteriosus, Patent for... OMIM:620570
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Ventricular septal hypertrophy, Hypertrophic cardiomyopathy, Left ventric... OMIM:615248
Aortic Valve Disease 1
Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va... OMIM:109730
Ciliary Dyskinesia, Primary, 13
Situs inversus totalis, Absent outer dynein arms, Infertility, Absent inner dynein arms OMIM:613193
Nephronophthisis 16
Situs inversus totalis, Enlarged kidney, Hypertrophic cardiomyopathy, Pulmonic stenosis, Aortic v... OMIM:615382
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:614432
Bardet-Biedl Syndrome 8
Situs inversus totalis OMIM:615985
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Ciliary Dyskinesia, Primary, 29
Situs inversus totalis OMIM:615872
Ciliary Dyskinesia, Primary, 12
Situs inversus totalis, Short stature, Abnormal central microtubular pair morphology of respirato... OMIM:612650
Aneurysm Of Interventricular Septum
Abnormal ventricular septum morphology, Vascular dilatation OMIM:105805
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Patent ductus arteriosus, Bicuspid aortic valve, A... OMIM:618719
Muscle Filaminopathy
Muscle fiber splitting, Abnormality of masticatory muscle, Weakness of facial musculature, Cardio... ORPHA:171445
Ciliary Dyskinesia, Primary, 18
Situs inversus totalis, Absent outer dynein arms, Male infertility, Abdominal situs ambiguus, Imm... OMIM:614874
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Calf muscle hypertrophy, Elbow flexion contracture, Abnormality of the shoulder girdle musculatur... ORPHA:206546
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Muscular dystrophy, Calf muscle pseudohypertrophy, Muscle fiber necrosis,... OMIM:253700
Scimitar Syndrome
Mitral atresia, Abnormal heart morphology, Interrupted inferior vena cava with azygous continuati... ORPHA:185
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Left ventricular hypertrophy OMIM:613694
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Peripheral pulmonary artery stenosis, Ventricular septal defect, Tetralogy of Fallot OMIM:617992
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:600348
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Holoprosencephaly 5
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Syntelencephaly, Lobar holo... OMIM:609637
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Dextrocardia OMIM:614679
Ciliary Dyskinesia, Primary, 14
Situs inversus totalis, Male infertility, Heterotaxy, Abnormal axonemal organization of respirato... OMIM:613807
Ciliary Dyskinesia, Primary, 7
Situs inversus totalis, Dextrocardia OMIM:611884
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Atrioventricular canal defect, Transposition of the great arteries, Mesoc... OMIM:605376
Neurocardiofaciodigital Syndrome
Atrial septal defect, Tetralogy of Fallot, Double inlet left ventricle, Patent ductus arteriosus OMIM:619869
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Right aortic arch, Dextrocardia OMIM:617577
Ciliary Dyskinesia, Primary, 38
Absent inner and outer dynein arms, Situs inversus totalis, Infertility, Dextrocardia OMIM:618063
Mesoaxial Hexadactyly And Cardiac Malformation
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:249670
Ciliary Dyskinesia, Primary, 44
Heterotaxy OMIM:618781
Global Developmental Delay With Or Without Impaired Intellectual Development
Hypospadias, Short stature, Lateral ventricle dilatation, Patent ductus arteriosus, Atrial septal... OMIM:618330
Distal Duplication 14Q
Abnormal lung lobation, Abnormal aortic morphology, Patent ductus arteriosus ORPHA:1705
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Ventricular septal defect, Dextrocardia OMIM:616037
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis OMIM:612518
Ciliary Dyskinesia, Primary, 35
Abdominal situs ambiguus, Situs inversus totalis OMIM:617092
Diabetic Embryopathy
Transposition of the great arteries, Hydrocephalus, Abnormal aortic morphology, Cryptorchidism, T... ORPHA:1926
Spermatogenic Failure 38
Male infertility, Abnormal sperm head morphology, Abnormal axonemal organization of respiratory m... OMIM:618433
Ciliary Dyskinesia, Primary, 24
Situs inversus totalis OMIM:615481
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect, Lateral ventricle dilatation, Cryptorchidism OMIM:616816
Thoraco-Abdominal Enteric Duplication
Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus, Ventricular sept... ORPHA:1455
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Ciliary Dyskinesia, Primary, 9
Situs inversus totalis, Absent outer dynein arms, Male infertility OMIM:612444
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Situs inversus totalis, Male infertility, Nasal polyposis, Coiled sperm fla... OMIM:620197
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Intellectual Developmental Disorder, X-Linked 103
Micropenis, Bilateral cryptorchidism, Lateral ventricle dilatation OMIM:300982
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Calf muscle pseudohypertrophy, Calf muscle hypertrophy, Scapular winging, Upper limb muscle weakn... ORPHA:353
Ciliary Dyskinesia, Primary, 32
Situs inversus totalis, Infertility, Absent respiratory ciliary axoneme radial spokes OMIM:616481
Ciliary Dyskinesia, Primary, 26
Situs inversus totalis, Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Ciliary Dyskinesia, Primary, 23
Situs inversus totalis OMIM:615451
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Atrial septal defect, Partial anomalous pulmonary venous return, Dextrocardia, Ventricular septal... OMIM:619657
Partial Atrioventricular Septal Defect
Abnormal tricuspid valve morphology, Bacterial endocarditis, Coronary sinus enlargement, Transien... ORPHA:1330
Cardiomyopathy, Familial Hypertrophic, 14
Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:613251
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly, Partial agenesis of the corpus callosum, Dysplastic corpus callosum OMIM:604213
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Dextrocardia, Infertility, Nasal polyposis, Absent inner and outer dynein... OMIM:606763
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu... ORPHA:1354
Diencephalic Syndrome
Hydrocephalus, Cachexia, Decreased body weight, Long penis ORPHA:1672
Ciliary Dyskinesia, Primary, 22
Situs inversus totalis, Dextrocardia, Infertility, Nasal polyposis, Reduced sperm motility, Absen... OMIM:615444
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect OMIM:253300
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:618052
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Short Stature-Wormian Bones-Dextrocardia Syndrome
Dextrocardia, Patent ductus arteriosus ORPHA:2863
Ciliary Dyskinesia, Primary, 16
Situs inversus totalis OMIM:614017
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:615297
Ciliary Dyskinesia, Primary, 15
Situs inversus totalis, Abnormal axonemal organization of respiratory motile cilia, Infertility, ... OMIM:613808
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Left ventricular hypertrophy, Ventricular sep... OMIM:108900
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Rhizomelia, Agenesis of corpus callosum OMIM:166990
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased CSF lactate, Gliosis, Ventricular septal defect, Abnormal CSF pyruvate family amino aci... ORPHA:79243
Primary Ciliary Dyskinesia
Situs inversus totalis, Transposition of the great arteries, Hydrocephalus, Abnormal atrial arran... ORPHA:244
Martsolf Syndrome 2
Short stature, Hypogonadotropic hypogonadism, Lateral ventricle dilatation OMIM:619420
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
16P13.11 Microduplication Syndrome
Transposition of the great arteries, Coarctation of aorta, Tetralogy of Fallot, Atrial septal def... ORPHA:261243
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Short stature, Ho... ORPHA:1908
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Isomerism, Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Hydr... OMIM:314390
Paget Disease Of Bone 6
Left ventricular hypertrophy OMIM:616833
Mulibrey Nanism
Intrauterine growth retardation, Cachexia, Short stature ORPHA:2576
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Cardiomyopathy, Ventricular septal defect, Short stature, Ataxia, Atrial ... OMIM:249270
Developmental And Epileptic Encephalopathy 102
Situs inversus totalis, Atrial septal defect, Hepatomegaly OMIM:619881
Poland Syndrome
Dextrocardia OMIM:173800
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Calf muscle hypertrophy, Cardiomyopathy, Triceps weakness, Limb-girdle muscle... ORPHA:86812
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Aortic aneurysm, Aortic valve stenosis, Tetralogy of Fallot... OMIM:614980
Ciliary Dyskinesia, Primary, 25
Situs inversus totalis, Dextrocardia OMIM:615482
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:620356
Lissencephaly 4
Growth delay, Colpocephaly, Agenesis of corpus callosum, Short stature OMIM:614019
Atrial Fibrillation, Familial, 10
Left atrial enlargement, Right ventricular dilatation, Left ventricular hypertrophy OMIM:614022
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Atrial septal defect, Abnormal heart morphology, Tetralogy of... OMIM:614954
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Ciliary Dyskinesia, Primary, 27
Situs inversus totalis OMIM:615504
Cardiac Diverticulum
Abnormal coronary artery origin, Aortic valve stenosis, Abnormal heart morphology, Mitral valve p... ORPHA:1686
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Left ventricular hypertrophy OMIM:613697
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Ciliary Dyskinesia, Primary, 28
Situs inversus totalis, Dynein arm defect of respiratory motile cilia OMIM:615505
Ciliary Dyskinesia, Primary, 19
Absent inner and outer dynein arms, Situs inversus totalis, Male infertility, Nasal polyposis OMIM:614935
Moynahan Syndrome
Short stature, Cachexia, Hypogonadism ORPHA:2574
Myofibrillar Myopathy 10
Ankle flexion contracture, Elbow flexion contracture, EMG: myopathic abnormalities, Left ventricu... OMIM:619040
Recombinant Chromosome 8 Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arteriosus, Double outlet right ventricle, ... OMIM:179613
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Endocardial fibrosis, Restrictive cardiomyopathy, Hypertrophic cardiomyo... OMIM:608751
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Intellectual Developmental Disorder, Autosomal Dominant 48
Hypospadias, Dilated fourth ventricle, Umbilical hernia, Lateral ventricle dilatation, Patent duc... OMIM:617751
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Pulmonar... OMIM:613759
Ritscher-Schinzel Syndrome 1
Pulmonic stenosis, Aortic valve stenosis, Tetralogy of Fallot, Double outlet right ventricle, Atr... OMIM:220210
Pulmonary Hypertension, Primary, 5
Right ventricular hypertrophy OMIM:265400
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia OMIM:614435
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Hypoplastic aortic arch, Mitral stenosis, Mitral atresia, Atrial septal... ORPHA:2248
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Ventricular septal defect, Dextrocardia OMIM:618067
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Meacham Syndrome
Transposition of the great arteries, Partial anomalous pulmonary venous return, Dextrocardia, Car... OMIM:608978
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation OMIM:618266
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
1Q21.1 Microduplication Syndrome
Hydrocephalus, Cryptorchidism, Tetralogy of Fallot, Hypospadias ORPHA:250994
Fadd-Related Immunodeficiency
Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Cardiomyopathy, Familial Hypertrophic, 17
Myocardial fibrosis, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:613873
Classic Multiminicore Myopathy
Muscular dystrophy, Weakness of facial musculature, Generalized amyotrophy, Muscle fiber atrophy,... ORPHA:324604
Nemaline Myopathy 9
Ventricular septal defect OMIM:615731
Leukoencephalopathy With Vanishing White Matter 5
Dilated third ventricle, Decreased CSF asialotransferrin to transferrin ratio, Lateral ventricle ... OMIM:620315
Dextrocardia
Abnormal lung lobation, Situs inversus totalis, Meckel diverticulum, Intestinal malrotation, Abno... ORPHA:1666
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect OMIM:619608
Heterotaxy, Visceral, 1, X-Linked
Myelomeningocele, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Bilateral superior ven... OMIM:306955
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Ventriculomegaly, Astrocytosis, Atrial septal defect OMIM:611087
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Ventricular septal defect, Hypertrophic cardiomyopathy, Patent ductus art... OMIM:616276
Loeffler Endocarditis
Left atrial enlargement, Endocardial fibrosis, Abnormal morphology of the chordae tendinae of the... ORPHA:75566
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at... OMIM:620642
Masa Syndrome
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum, Short stature OMIM:303350
Grange Syndrome
Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus ORPHA:79094
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Alexander Disease Type I
Hydrocephalus, Cachexia, Failure to thrive, Ataxia ORPHA:363717
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis OMIM:615434
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dandy-Walker malformation, Agenesis of corpus callosum, Spina bifida occulta, Lateral ventricle d... OMIM:618736
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation ORPHA:306669
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Ventricular hypertrophy, Left ventricular hypertrophy OMIM:619048
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Dextrocardia, Aortic valve stenosis, Pulmonary artery stenosis, Persisten... OMIM:615067
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arteriosus, Persistent left superior vena c... ORPHA:3304
Hypoglossia With Situs Inversus
Situs inversus totalis OMIM:612776
Indomethacin Embryofetopathy
Atrial septal defect, Ventricular septal defect, Cardiomyopathy ORPHA:1909
Cardiomyopathy, Familial Hypertrophic, 16
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Asymmetric septal hypertrophy OMIM:613838
Double Outlet Right Ventricle
Truncus arteriosus, Pulmonary artery atresia, Pulmonic stenosis, Coarctation of aorta, Tetralogy ... ORPHA:3426
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Ventriculomegaly, Lateral ventricle dilatation OMIM:613443
Leukoencephalopathy, Progressive, With Ovarian Failure
Lateral ventricle dilatation OMIM:615889
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal heart morphology,... ORPHA:216694
Spondylocostal Dysostosis 4, Autosomal Recessive
Situs inversus totalis, Dextrocardia, Spina bifida occulta, Hydrocephalus, Aplasia of posterior c... OMIM:613686
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot ORPHA:251076
Ciliary Dyskinesia, Primary, 1
Situs inversus totalis, Absent outer dynein arms, Male infertility, Nasal polyposis, Communicatin... OMIM:244400
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot OMIM:615542
Spermatogenic Failure 51
Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz... OMIM:619177
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Neonatal death, Bilateral lung agenesis, Patent ductus arteriosus OMIM:601612
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Weiss-Kruszka Syndrome
Dextrotransposition of the great arteries, Colpocephaly, Agenesis of corpus callosum, Left ventri... OMIM:618619
Distal 7Q11.23 Microduplication Syndrome
Aortic aneurysm, Hydrocephalus, Patent ductus arteriosus, Frontal encephalocele, Cryptorchidism ORPHA:261102
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hydrocephalus, Hypergonadotropic hypogonadism, Short stature, Obesity, Mitral valve ... ORPHA:2183
Pontocerebellar Hypoplasia, Type 1A
Basal ganglia gliosis, Lateral ventricle dilatation OMIM:607596
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle OMIM:220200
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:619515
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
46,Xx Sex Reversal 5
Secundum atrial septal defect, Ventricular septal defect, Hypoplastic left heart OMIM:618901
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Increased CSF lactate, Cachexia, Gait ataxia, Failure to thrive, Weight loss OMIM:612075
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon... ORPHA:860
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Short stature, Dextrotransposition of the great arteries, Ventricular septal defect, Lateral vent... OMIM:619995
Thoracoabdominal Syndrome
Ectopia cordis, Transposition of the great arteries, Anencephaly, Hypospadias, Hydrocephalus, Pat... OMIM:313850
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Abnormal heart morphology, Colpocephaly ORPHA:2185
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Vascular dilatation, Lateral ventricle dilatation OMIM:602200
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Ciliary Dyskinesia, Primary, 6
Absent/shortened outer dynein arms, Abnormal ciliary motility, Ciliary dyskinesia, Abnormal respi... OMIM:610852
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
Meckel Syndrome, Type 7
Situs inversus totalis, Aortic valve stenosis, Hepatosplenomegaly, Right ventricular hypertrophy,... OMIM:267010
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Dilation of Virchow-Robin spaces, Partial agenesis of the corpus callosum, Lateral ventricle dila... OMIM:619517
Marfanoid Habitus With Situs Inversus
Pulmonic stenosis, Situs inversus totalis, Mitral valve prolapse OMIM:609008
Craniosynostosis 6
Dandy-Walker malformation, Agenesis of corpus callosum, Spina bifida occulta, Lateral ventricle d... OMIM:616602
Fetal Trimethadione Syndrome
Transposition of the great arteries, Hypospadias, Tetralogy of Fallot, Intrauterine growth retard... ORPHA:1913
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Spina bifida occulta, Extra-axial cerebrospinal fluid accumulation, Lateral ventricle dilatation,... OMIM:618291
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta, Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lateral ventricle dilatation OMIM:617668
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Tetralogy of Fallot ORPHA:1919
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Aortic aneurysm, Patent foramen ovale, Persistent left superior vena cava, Abnormal heart morphol... ORPHA:477817
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy OMIM:616974
Congenital Heart Defects, Multiple Types, 7
Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ... OMIM:618780
Tetralogy Of Fallot
Tetralogy of Fallot ORPHA:3303
Alg2-Cdg
Lateral ventricle dilatation ORPHA:79326
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Patent foramen ovale, Pulmonary artery atresia, Tetralogy of Fallot, Pate... OMIM:618316
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Atrial septal defect, Transposition of the great arteries, Encephalocele, Hydrocephalus, Pulmonic... OMIM:253800
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Enlarged kidney, Hepatomegaly, Truncus arteriosus, Hypertrophic cardiomyo... OMIM:615415
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Short stature, Situs inversus totalis, Decreased body weight, Mild short stature OMIM:614833
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect OMIM:601355
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation ORPHA:77299
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Gliosis, Lateral ventricle dilatation OMIM:221770
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus OMIM:617044
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Short stature, Cachexia ORPHA:1144
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect, Patent ductus arteriosus OMIM:619717
Ciliary Dyskinesia, Primary, 11
Short stature, Ciliary dyskinesia, Abnormal central microtubular pair morphology of respiratory m... OMIM:612649
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Ragged-red muscle fibers, Myopathy, Left ventricular hypertrophy OMIM:540000
Aids Wasting Syndrome
Cachexia, Weight loss ORPHA:90081
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Failure to thrive, Lethargy, Gait disturbance ORPHA:26
Combined Oxidative Phosphorylation Defect Type 23
Hypertrophic cardiomyopathy, Right ventricular hypertrophy, Left ventricular hypertrophy ORPHA:444013
Thakker-Donnai Syndrome
Transposition of the great arteries, Rectovaginal fistula, Communicating hydrocephalus, Tetralogy... ORPHA:1780
Developmental And Epileptic Encephalopathy 109
Left ventricular hypertrophy OMIM:620145
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Ventricular septal defect, Peripheral arterial stenosis, Patent ductus arteriosus OMIM:126320
Biemond Syndrome Type 2
Delayed puberty, Hypospadias, Hydrocephalus, Short stature, Obesity, Hypogonadism, Hypogonadotrop... ORPHA:141333
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614262
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:83473
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Severe X-Linked Intellectual Disability, Gustavson Type
Severe postnatal growth retardation, Dandy-Walker malformation, Dilated fourth ventricle, Lateral... ORPHA:3078
Chromosome 6Q24-Q25 Deletion Syndrome
Atrial septal defect, Patent ductus arteriosus, Hydrocephalus, Dysplastic pulmonary valve, Dyspla... OMIM:612863
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Ventriculomegaly OMIM:617967
Renpenning Syndrome
Hypospadias, Heterotaxy, Cachexia, Decreased testicular size, Growth delay, Severe short stature ORPHA:3242
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation OMIM:618890
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Cardiomyopathy, Elevated CSF D-2-hydroxyglutaric acid concentration, Lateral ... OMIM:600721
Bronchopulmonary Dysplasia
Right ventricular hypertrophy ORPHA:70589
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aortic arch, Aortic valve atr... ORPHA:1457
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Short stature, Cachexia, Ventriculomegaly, Ataxia ORPHA:1933
Mitochondrial Complex I Deficiency, Nuclear Type 6
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:618228
Polymicrogyria Due To Tubb2B Mutation
Agenesis of corpus callosum, Lateral ventricle dilatation ORPHA:300573
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... OMIM:618643
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Dextrocardia, Encephalocele, Hydrocephalus, Bicornuate uterus, Cryptorchidism,... OMIM:264480
Christianson Syndrome
Truncal ataxia, Cachexia, Ventriculomegaly, Gait ataxia ORPHA:85278
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Kleeblattschaedel
Hydrocephalus OMIM:148800
Atrial Septal Defect 1
Bicuspid aortic valve, Atrial septal dilatation, Aortic valve stenosis, Tetralogy of Fallot with ... OMIM:108800
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Ciliary dyskinesia, Abnormal respiratory motile cilium morphology OMIM:215520
Glutamine Deficiency, Congenital
Decreased CSF glutamine concentration, Subependymal cysts, Neonatal death, Lateral ventricle dila... OMIM:610015
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Growth delay, Lateral ventricle dilatation OMIM:615716
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Anomalous origin of right pulmonary artery from ascending aorta, Coarctatio... OMIM:610338
Joubert Syndrome 3
Atrial septal defect, Enlarged fossa interpeduncularis, Lateral ventricle dilatation OMIM:608629
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Intrauterine growth retardation, Lateral ventricle dilatation ORPHA:284417
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology, Patent ductus arteriosus ORPHA:2978
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Secundum atrial septal defect, Dextrocardia ORPHA:2257
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:1388
Bilateral Generalized Polymicrogyria
Short stature, Lateral ventricle dilatation, Growth delay ORPHA:208447
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Muscular dystrophy, Skeletal muscle hypertrophy, Facial palsy, Flexion contracture, Left ventricu... OMIM:613156
Meacham Syndrome
Hydrometrocolpos, Situs inversus totalis, Transposition of the great arteries, Abnormal fallopian... ORPHA:3097
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Cachexia, Slender build, Ataxia, Weight loss OMIM:613662
Bardet-Biedl Syndrome 17
Situs inversus totalis, Dextrocardia, Obesity, Hypogonadism, Micropenis OMIM:615994
X-Linked Intellectual Disability, Wilson Type
Growth delay, Lateral ventricle dilatation, Hydrocele testis ORPHA:85290
14Q24.1Q24.3 Microdeletion Syndrome
Truncus arteriosus, Pulmonary artery atresia, Abnormal heart morphology, Atrial septal defect, Ve... ORPHA:401935
Aortic Arch Interruption
Transposition of the great arteries, Patent ductus arteriosus, Aortic valve atresia, Aortopulmona... ORPHA:2299
Isolated Dandy-Walker Malformation
Tetralogy of Fallot ORPHA:217
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm OMIM:613780
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Skeletal muscle hypertrophy, Ventricular hypertrophy, Cardiomyopathy, Ca... OMIM:300280
Criss-Cross Heart
Transposition of the great arteries, Tricuspid stenosis, Pulmonic stenosis, Abnormal mitral valve... ORPHA:1461
Cardiomyopathy, Familial Hypertrophic, 10
Left ventricular hypertrophy, Ventricular septal hypertrophy, Hypertrophic cardiomyopathy, Asymme... OMIM:608758
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:3469
Cardioacrofacial Dysplasia 1
Atrioventricular canal defect, Complete atrioventricular canal defect OMIM:619142
Coenzyme Q10 Deficiency, Primary, 5
Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy OMIM:614654
Cach Syndrome
Intrauterine growth retardation, Gonadal dysgenesis, Lateral ventricle dilatation, Growth delay ORPHA:135
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Coarctation of aorta, Subvalvular aortic stenosis, Complete atrioventricular canal defect OMIM:217085
14Q11.2 Microdeletion Syndrome
Ventricular septal defect, Patent ductus arteriosus ORPHA:261120
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation OMIM:614219
Bardet-Biedl Syndrome 19
Partial atrioventricular canal defect, Patent ductus arteriosus, Atrial septal defect, Ventricula... OMIM:615996
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Spermatogenic Failure 10
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:614822
Spermatogenic Failure 11
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:615081
Alpha-1-Antitrypsin Deficiency
Gastric varix, Panacinar emphysema, Hepatocellular carcinoma, Bronchiectasis, Chronic bronchitis OMIM:613490
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy OMIM:614458
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bicornuate uterus OMIM:258320
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Left ventricular hypertrophy OMIM:616733
Spinocerebellar Ataxia 48
Cachexia, Ataxia, Dysmetria, Gait ataxia OMIM:618093
Autosomal Recessive Centronuclear Myopathy
Abnormal heart valve morphology, Facial diplegia, Scapular winging, Facial palsy, Generalized amy... ORPHA:169186
Ciliary Dyskinesia, Primary, 5
Situs inversus totalis OMIM:608647
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Hypoplastic left atrium, Truncus arteriosus, Pulmo... OMIM:601186
Mcdonough Syndrome
Short stature, Cachexia, Cryptorchidism ORPHA:2471
Slc35A2-Cdg
Dandy-Walker malformation, Precocious puberty, Short stature, Abnormal heart morphology, Tetralog... ORPHA:356961
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Coarctation of aorta, Abnormal heart morphology, Tetralo... ORPHA:261183
Li-Campeau Syndrome
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus OMIM:619189
Congenital Fibrinogen Deficiency
Right ventricular hypertrophy, Left ventricular hypertrophy ORPHA:335
Cardiac-Urogenital Syndrome
Mesocardia, Partial anomalous pulmonary venous return, Dextrocardia, Interrupted aortic arch, Sci... OMIM:618280
Gómez-López-Hernández Syndrome
Hydrocephalus, Short stature ORPHA:1532
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Ragged-red muscle fibers, EMG: myopathic abnormalities, Hypertrophic cardiomyopathy, Achilles ten... OMIM:615418
Adams-Oliver Syndrome 5
Patent foramen ovale, Right atrial enlargement, Pulmonic stenosis, Splenomegaly, Right ventricula... OMIM:616028
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Hypoplastic left heart ORPHA:2476
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal aortic morphology, Abnormal tricuspid valve morphology ORPHA:3405
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Right ventricular hypertrophy OMIM:614261
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Ciliary dyskinesia, Abnormal respiratory motile cilium morphology OMIM:225050
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Dextrocardia OMIM:613095
Attrv122I Amyloidosis
Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valve stenos... ORPHA:85451
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy OMIM:601494
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Tetralogy of Fallot, Mitral valve prolapse, Patent ductus arteriosus, At... OMIM:612561
Hadziselimovic Syndrome
Ventricular hypertrophy, Pulmonary artery atresia, Tetralogy of Fallot, Atrial septal defect, Ven... OMIM:612946
Aortic Aneurysm, Familial Thoracic 4
Coronary artery atherosclerosis, Stroke, Ascending tubular aorta aneurysm, Posterior cerebral art... OMIM:132900
Joubert Syndrome
Situs inversus totalis, Encephalocele, Hydrocephalus, Gait disturbance, Ataxia ORPHA:475
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Partial agenesis of the corpus callosum, Agenesis of corpus callosum OMIM:619302
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Ventriculomegaly, Occipital encephalocele ORPHA:324416
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Intrauterine growth retardation, Abnormal lateral ventricle morphology, Growth delay ORPHA:488635
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Colpocephaly OMIM:614870
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect OMIM:620203
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Spermatogenic Failure 86
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Gliosis, Short stature, Lateral ventricle dilatation, Cryptorchidism, Micropenis OMIM:619847
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Pulmonic stenosis, Patent foramen ovale, Lateral ventricle dilatation, Umbilical hernia OMIM:618914
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Ascending aortic dissection, Descending aortic dissection, Coronary a... OMIM:615436
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Premature coronary artery atherosclerosis, Aortic aneurysm, Ascending tubula... OMIM:611788
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Transposition of the great arteries, Spina bifida occul... OMIM:617877
Pseudo-Torch Syndrome 2
Secundum atrial septal defect, Cerebral hemorrhage, Lateral ventricle dilatation, Patent ductus a... OMIM:617397
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Mosaic Trisomy 9
Hypoplastic female external genitalia, Dextrocardia, Abnormal fallopian tube morphology, Hypoplas... ORPHA:99776
Nephronophthisis 2
Situs inversus totalis, Enlarged kidney OMIM:602088
Congenital Gerbode Defect
Perimembranous ventricular septal defect, Abnormal tricuspid valve leaflet morphology, Bacterial ... ORPHA:99095
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus, Umbilical hernia, Short stature, Patent ductus arteriosus ORPHA:1516
8P23.1 Microdeletion Syndrome
Atrioventricular canal defect, Transposition of the great arteries, Hypospadias, Abnormal aortic ... ORPHA:251071
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Distal amyotrophy, Hypertrophic cardiomyopathy, Left ventricular hy... ORPHA:3208
Carpenter Syndrome 1
Transposition of the great arteries, External genital hypoplasia, Spina bifida occulta, Cryptorch... OMIM:201000
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Intrauterine growth retardation, Cachexia, Failure to thrive in infancy, Inability to walk OMIM:616801
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus, Agenesis of corpus callosum OMIM:619301
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Gait disturbance ORPHA:157973
Marden-Walker Syndrome
Epispadias, Situs inversus totalis, Abnormal anatomic location of the heart, Hypospadias, Dextroc... ORPHA:2461
Riboflavin Transporter Deficiency
Cachexia, Ataxia, Hypogonadism ORPHA:97229
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul... OMIM:612949
Ellis Van Creveld Syndrome
Epispadias, Neonatal short-limb short stature, Situs inversus totalis, Atrioventricular canal def... ORPHA:289
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Ventricular septal defect OMIM:615524
Agnathia-Otocephaly Complex
Situs inversus totalis, Secundum atrial septal defect OMIM:202650
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Pituitary Adenoma 1, Multiple Types
Cardiomyopathy, Left ventricular hypertrophy OMIM:102200
Craniofacial Dyssynostosis With Short Stature
Hypospadias, Hydrocephalus, Cryptorchidism, Short stature, Agenesis of corpus callosum, Patent du... OMIM:218350
Congenital Toxoplasmosis
Cardiomegaly, Hydrocephalus, Intrauterine growth retardation, Failure to thrive in infancy, Ventr... ORPHA:858
Proximal 16P11.2 Microdeletion Syndrome
Atrial septal defect, Abnormal heart morphology, Dextrocardia, Abnormal aortic valve morphology ORPHA:261197
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Coarctation of aorta, Atrioventricular canal defect, Dextrocardia OMIM:618929
Hydrolethalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Anencephaly, Agenesis of corpus callosum OMIM:614120
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum ORPHA:1528
Sporadic Creutzfeldt-Jakob Disease
Astrocytosis, Increased CSF protein concentration, Gliosis ORPHA:204
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Patent ductus arteriosus, Descending thoracic aorta ane... ORPHA:229
Childhood-Onset Spasticity With Hyperglycinemia
Left ventricular hypertrophy ORPHA:401866
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
22Q11.2 Duplication Syndrome
Transposition of the great arteries, Interrupted aortic arch, Growth delay, Tetralogy of Fallot, ... ORPHA:1727
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Johanson-Blizzard Syndrome
Abnormality of the female genitalia, Hypospadias, Dextrocardia, Hypoplasia of penis, Abnormal vag... ORPHA:2315
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Maternal Phenylketonuria
Coarctation of aorta, Abnormal heart morphology, Tetralogy of Fallot, Double outlet right ventric... ORPHA:2209
Cardiomyopathy, Dilated, 2D
Muscular ventricular septal defect, Patent foramen ovale, Perinuclear cardiomyocyte vacuolization... OMIM:619371
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Arthrogryposis multiplex congenita, Ventricular septal defect, Right ventricular hypertrophy, Hep... OMIM:613404
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Ciliary Dyskinesia With Defective Radial Spokes
Ciliary dyskinesia, Nasal polyposis, Immotile cilia, Absent respiratory ciliary axoneme radial sp... OMIM:242670
Pontocerebellar Hypoplasia, Type 13
Dandy-Walker malformation, Lateral ventricle dilatation OMIM:618606
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Occipital encephalocele ORPHA:352682
Czeizel-Losonci Syndrome
Dextrocardia, Spina bifida occulta, Hydrocephalus, Myelomeningocele, Spina bifida ORPHA:2437
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Atrial septal defect, Patent foramen ovale, Lateral ventricle dilatation OMIM:620075
Fried Syndrome
Hydrocephalus ORPHA:85335
Silver-Russell Syndrome
Postnatal growth retardation, Hypospadias, Abnormal vagina morphology, Abnormal male external gen... ORPHA:813
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Atrial septal defect, Perimembranous ventricular septal defect, Hypertrophic cardio... OMIM:620135
Yuan-Harel-Lupski Syndrome
Bicuspid aortic valve, Ventricular septal defect, Aortic root aneurysm, Double outlet right ventr... OMIM:616652
Distal Duplication 5Q
Ventricular septal defect, Dextrocardia ORPHA:96097
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Atrial septal defect, Patent ductus arteriosus OMIM:614886
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, Muscular edema, Scapular wingin... ORPHA:268
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus, Cardiomegaly, Macroorchidism OMIM:300886
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:618974
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Patent ductus arteriosus, Cardiomegaly, Atrial septal defect, Ventricular s... OMIM:618652
Marden-Walker Syndrome
Postnatal growth retardation, Hypospadias, Dextrocardia, Dandy-Walker malformation, Intrauterine ... OMIM:248700
Malan Overgrowth Syndrome
Ventriculomegaly, Lateral ventricle dilatation ORPHA:420179
Fixed Subaortic Stenosis
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ... ORPHA:3092
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Pulmonic stenosis, Left ventricular hypertrophy, Atrial septal defec... OMIM:615355
Weill-Marchesani Syndrome
Pulmonic stenosis, Ventricular septal defect, Aortic valve stenosis ORPHA:3449
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Coarctation of aorta, Mitral valve prolapse, Bicuspid aortic valve, Atrial septal defect, Ventric... ORPHA:371428
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... ORPHA:99125
Tangier Disease
Hepatomegaly, Distal amyotrophy, Facial diplegia, Splenomegaly, Left ventricular hypertrophy OMIM:205400
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Intellectual Developmental Disorder, Autosomal Dominant 56
Lateral ventricle dilatation OMIM:617854
19Q13.11 Microdeletion Syndrome
Hypospadias, Cachexia, Bifid scrotum, Ventricular septal defect, Growth delay, Failure to thrive,... ORPHA:217346
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Muscular dystrophy, Left ventricular hypertrophy OMIM:613153
Joubert Syndrome With Ocular Defect
Hydrocephalus, Encephalocele, Dextrocardia, Agenesis of corpus callosum ORPHA:220493
Congenital Tracheomalacia
Partial anomalous pulmonary venous return, Right aortic arch, Ventricular septal defect, Double a... ORPHA:95430
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect OMIM:620393
X-Linked Intellectual Disability, Hedera Type
Hypomimic face, Left ventricular hypertrophy ORPHA:93952
2,4-Dienoyl-Coa Reductase Deficiency
Increased CSF lysine concentration, Hydrocephalus, Increased CSF lactate, Failure to thrive, Colp... OMIM:616034
Cardiomyopathy, Familial Hypertrophic, 11
Atrial septal defect, Subaortic ventricular septal bulge, Hypertrophic cardiomyopathy, Left ventr... OMIM:612098
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Right ventricular hypertrophy ORPHA:217563
Temple Syndrome
Postnatal growth retardation, Hydrocephalus, Precocious puberty, Short stature, Obesity, Cryptorc... ORPHA:254516
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Arteria lusoria, Anomalous origin of left pulmonary artery from ascending aorta, Transposition of... ORPHA:99050
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hypoplastic female external genitalia, Hydrocephalus, Agenesis of corpus callosum, Ventriculomega... OMIM:618577
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Ventriculomegaly, Partial agenesis of the corpus callosum OMIM:304100
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Abnormal aortic morphology, Tetralogy of Fallot ORPHA:1166
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Truncus arteriosus, Abnormal aortic morphology ORPHA:2516
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Chromosome 1P36 Deletion Syndrome, Proximal
Atrial septal defect, Partial anomalous pulmonary venous return, Coronary artery fistula, Patent ... OMIM:619343
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Short stature, Holoprosencephaly, Patent ductus arteriosus, Ventric... ORPHA:93274
Chromosome 15Q25 Deletion Syndrome
Coronary artery fistula, Ventricular septal defect, Dextrocardia, Abnormal cardiac septum morphology OMIM:614294
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Congenital Disorder Of Glycosylation, Type Iig
Postnatal growth retardation, Rhizomelia, Hypospadias, Short stature, Lateral ventricle dilatatio... OMIM:611209
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Dandy-Walker malformation, Dilated third ventricle, Lateral ventricle dilatation, ... OMIM:613154
Pagod Syndrome
Situs inversus totalis, Encephalocele, Meningocele, Abnormal testis morphology, Spina bifida, Fem... ORPHA:991
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Patent foramen ovale, Transposition of the great arteries, Cryptorchidism OMIM:616789
Noonan Syndrome 12
Ventricular septal defect, Tetralogy of Fallot OMIM:618624
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Increased CSF protein concentration, Hypergonadotropic hypogonadism, Weight loss, Hypog... ORPHA:298
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Patent foramen ovale, Ventricular septal defect, Right ventricular hypertrophy, Atrial septal def... OMIM:208085
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation OMIM:614105
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis, Intrauterine growth retardation OMIM:610333
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis, Holoprosencephaly, Hypoplasia of penis ORPHA:990
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Agenesis of corpus callosum, Cryptorchidism, Dilated third ventricle, Lateral ventricle dilatation OMIM:619244
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Vascular ring, Patent ductus arteriosus, Overriding aorta, Atrial septal defect, Ventricular sept... OMIM:601927
Dandy-Walker Malformation With Postaxial Polydactyly
Vascular dilatation, Hydrocephalus, Dandy-Walker malformation, Dilated fourth ventricle, Aortic v... OMIM:220220
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Ventricular septal defect, Stroke ORPHA:49827
Neu-Laxova Syndrome 1
Stillbirth, Short umbilical cord, Transposition of the great arteries, Small placenta, Hydranence... OMIM:256520
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Hypertrophic cardiomyopathy OMIM:616277
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Tetralogy of Fallot, Patent ductus arteriosus ORPHA:2184
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus, Bicuspid aortic valve, Aortic valve stenosis OMIM:615599
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Gait disturbance, Intrauterine growth retardation, Ventriculomegaly, Dilated cardi... ORPHA:272
Lambert Syndrome
Ventricular septal defect ORPHA:1296
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Rhizomelic leg shortening, Hypospadias, Meningocele, Dandy-Walker malfor... ORPHA:397715
Juvenile Huntington Disease
Bradykinesia, Progressive cerebellar ataxia, Broad-based gait, Gait ataxia, Ataxia, Weight loss, ... ORPHA:248111
Combined Oxidative Phosphorylation Defect Type 39
Intrauterine growth retardation, Increased CSF lactate, Cryptorchidism, Lateral ventricle dilatation ORPHA:565624
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomegaly, Cachexia, Ataxia, Lethargy ORPHA:42
Distal Deletion 10Q
Postnatal growth retardation, Spina bifida occulta, Short stature, Lateral ventricle dilatation, ... ORPHA:96148
Sick Sinus Syndrome 2
Left ventricular noncompaction, Mitral valve prolapse, Left ventricular hypertrophy OMIM:163800
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum, Umbilical hernia ORPHA:380
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Atrial septal defect, Dextrocardia, Patent ductus arteriosus OMIM:277380
Adams-Oliver Syndrome 6
Truncus arteriosus, Ventricular septal defect OMIM:616589
Inherited Creutzfeldt-Jakob Disease
Stroke-like episode, Astrocytosis, Increased CSF protein concentration ORPHA:282166
Renal Tubular Dysgenesis
Tetralogy of Fallot ORPHA:3033
Neurooculorenal Syndrome
Postnatal growth retardation, Aqueductal stenosis, Dextrocardia, Tetralogy of Fallot with pulmona... OMIM:620305
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Retinal arterial tortuosity, Hydranencephaly, Hydrocephalus, Gliosis, Patent foramen ovale, Dilat... OMIM:620371
Pericardial And Diaphragmatic Defect
Mitral stenosis, Abnormal heart morphology, Tetralogy of Fallot, Patent ductus arteriosus, Bicusp... ORPHA:2847
Congenital Aortic Valve Stenosis
Aortic valve atresia, Dysplastic aortic valve, Aortic valve stenosis, Left ventricular hypertroph... ORPHA:3093