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Gene: Dctn5 MGI:1891689

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Gene Summary

Name:
dynactin 5
Synonyms:
b2b315Clo,  4930427E12Rik,  p25 dynactin subunit

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
abnormal behavior Dctn5tm2a(KOMP)Wtsi HET Early adult 6.89×10-05
preweaning lethality, complete penetrance Dctn5tm2a(KOMP)Wtsi HOM   Early adult 0.00
abnormal lens morphology Dctn5tm2a(KOMP)Wtsi HET Early adult 1.18×10-05
cataract Dctn5tm2a(KOMP)Wtsi HET Early adult 9.83×10-06

Download data as:  TSV  XLS

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

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 50% (1 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote Ambiguous
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 50% (1 of 2)
Lung N/A heterozygote 50% (1 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 50% (1 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 50% (1 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 50% (1 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote Ambiguous
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood vessel 0.0%
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images
Dctn5tm2a(KOMP)Wtsi
body, WT, Female, WTSI
Dctn5tm2a(KOMP)Wtsi
body, HET, Male, WTSI
Dctn5tm2a(KOMP)Wtsi
body, HET, Male, WTSI
Dctn5tm2a(KOMP)Wtsi
body, HET, Male, WTSI
Dctn5tm2a(KOMP)Wtsi
head, HET, Male, WTSI

View all 72 images

Dctn5tm2a(KOMP)Wtsi
back skin, HET, Female, WTSI
Dctn5tm2a(KOMP)Wtsi
back skin, HET, Female, WTSI
Dctn5tm2a(KOMP)Wtsi
back skin, HET, Female, WTSI
Dctn5tm2a(KOMP)Wtsi
back skin, HET, Female, WTSI

Human diseases caused by Dctn5 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Dctn5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Cataract 44
Developmental cataract OMIM:616509
Aniridia 3
Cataract OMIM:617142
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Cerebellar hypoplasia, Porencephalic cyst, Atrial septal defect, Situs inversus totalis, Tetralog... OMIM:601322
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
Ectopia lentis ORPHA:2084
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Corneal Dystrophy, Groenouw Type I
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy OMIM:121900
Cataract 42
Cataract, Developmental cataract OMIM:115900
Trichomegaly
Cataract OMIM:190330
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Nephronophthisis 16
Patent ductus arteriosus, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysp... OMIM:615382
Genitopalatocardiac Syndrome
Double outlet right ventricle, Ventricular septal defect, Micrognathia, Renal cyst, Hypospadias, ... OMIM:231060
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia, Situs inversus totalis, Cerebellar vermis hypoplasia OMIM:614844
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the thumb, Mandibular pr... ORPHA:1908
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Pupillary Membrane, Persistence Of
Megalocornea, Persistent pupillary membrane, Developmental cataract OMIM:178900
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Nathalie Syndrome
Cataract ORPHA:2663
Galactosemia Iv
Cataract OMIM:618881
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... OMIM:617912
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Right Atrial Isomerism
Right atrial isomerism, Abdominal situs ambiguus, Ventricular septal defect, Common atrium, Aorto... OMIM:208530
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Hypoplastic left heart, ... OMIM:614779
Ciliary Dyskinesia, Primary, 40
Patent ductus arteriosus, Congenitally corrected transposition of the great arteries, Atrioventri... OMIM:618300
Cataract-Microcornea Syndrome
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy ORPHA:1377
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Foveal Hypoplasia 1
Presenile cataracts OMIM:136520
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Patent ductus arteriosus, Double outlet right ventricle, Micrognathia, Atrial septal defect, Tetr... ORPHA:3304
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Aorta Coarctation
Patent ductus arteriosus, Aortic valve atresia, Perimembranous ventricular septal defect, Bicuspi... ORPHA:1457
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia, Congenital pseudoarthrosis of the clavicle ORPHA:66630
X-Linked Retinoschisis
Cataract ORPHA:792
Heterotaxy, Visceral, 12, Autosomal
Abdominal situs ambiguus, Patent foramen ovale, Double outlet right ventricle, Ventricular septal... OMIM:619702
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Periventricular leukomalacia, Microcephaly, Perimembranous ventricular septal defect OMIM:619170
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopathy, Hypo... OMIM:620135
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Left atrial isomerism, Bilateral su... OMIM:605376
Heterotaxy, Visceral, 7, Autosomal
Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Transposition ... OMIM:616749
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Corneal opacity, Ectopia lentis OMIM:613086
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect OMIM:212090
Galactosemia Ii
Cataract OMIM:230200
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Ventricular septal defect, Micrognathia, Missing ribs, Hydrocephal... OMIM:220210
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Patent ductus arteriosus, Double outlet right ventricle, Bilateral renal agenesis, Bicuspid aorti... OMIM:618845
Distal Monosomy 13Q
Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Abnorm... ORPHA:1590
Megabladder, Congenital
Patent ductus arteriosus, Ventricular septal defect, Stage 5 chronic kidney disease, Bicuspid aor... OMIM:618719
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... OMIM:615779
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Lambotte Syndrome
Retrognathia, Semilobar holoprosencephaly, Ventricular septal defect, Microcephaly OMIM:245552
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Ventricular Septal Defect 1
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... OMIM:614429
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Mandibular prognathia, Arteriovenous malformation, Abnormal aortic arch morphology, Hypoplasia of... ORPHA:1110
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Cataract 47
Cataract, Microcornea OMIM:612018
Bardet-Biedl Syndrome 8
Hypospadias, Situs inversus totalis, Renal dysplasia OMIM:615985
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Abnormal aortic morphology, Cerebral cortical atrophy, Ventricular septal ... ORPHA:1166
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Retrognathia, Dental malocclusion, Patent ductus arteriosus, Mild microcephaly, Perimembranous ve... ORPHA:363444
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect, Foot oligodactyly, Anterior encephalocele, Short femur, Holoprosenceph... OMIM:601357
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Right aortic arch, Hypoplastic pulmonary veins, Ventricular septal... OMIM:613854
Meckel Syndrome, Type 8
Encephalocele, Pericardial effusion, Enlarged kidney, Polycystic kidney dysplasia, Microcephaly, ... OMIM:613885
Holoprosencephaly 5
Syntelencephaly, Hydrocephalus, Semilobar holoprosencephaly, Lobar holoprosencephaly, Alobar holo... OMIM:609637
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly, Cerebral cortical atrophy, Microcephaly ORPHA:2523
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Pseudotrisomy 13 Syndrome
11 pairs of ribs, Encephalocele, Ventricular septal defect, Cerebellar hypoplasia, Hydrocephalus,... OMIM:264480
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Agnathia-Otocephaly Complex
Mandibular aplasia, Micrognathia, Secundum atrial septal defect, Holoprosencephaly, Situs inversu... OMIM:202650
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria, Ventricular septal defect, Atrial septal defect, Situs inversus totalis, Stroke, C... OMIM:249270
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic v... ORPHA:477817
Meckel Syndrome 13
Polycystic kidney dysplasia, Micrognathia, Occipital encephalocele, Cerebellar hypoplasia OMIM:617562
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Nuclear cataract, Zonular cataract, Developmental cataract OMIM:600881
Recombinant Chromosome 8 Syndrome
Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Micrognathia,... OMIM:179613
Ciliary Dyskinesia, Primary, 36, X-Linked
Situs inversus totalis, Recurrent sinusitis OMIM:300991
Developmental And Epileptic Encephalopathy 102
Situs inversus totalis, Microcephaly, Atrial septal defect OMIM:619881
Meacham Syndrome
Patent ductus arteriosus, Conotruncal defect, Ventricular septal defect, Crossed fused renal ecto... ORPHA:3097
Marfanoid Habitus With Situs Inversus
Aortic root aneurysm, Mandibular prognathia, Mitral valve prolapse, Situs inversus totalis, Persi... OMIM:609008
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Aplasia/Hypoplasia of the cerebellum, Mandibular aplasia, Hypoplasia of penis, Holoprosencephaly,... ORPHA:990
Microhydranencephaly, X-Linked
Holoprosencephaly, Microcephaly OMIM:306990
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus... ORPHA:2570
Mirror Movements 3
Situs inversus totalis OMIM:616059
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis, Recurrent sinusitis OMIM:608644
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... OMIM:617205
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Iris coloboma, Progressive cataract OMIM:604219
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Nephronophthisis 2
Stage 5 chronic kidney disease, Enlarged kidney, Absence of renal corticomedullary differentiatio... OMIM:602088
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia OMIM:618948
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Enlarged kidney, Cystic renal dysplasia, Hypertrophic cardiomyopathy, Situs i... OMIM:615415
Cataract 1, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Microcornea OMIM:116200
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Situs inversus totalis, Recurrent sinusitis OMIM:620032
Ciliary Dyskinesia, Primary, 37
Right aortic arch, Situs inversus totalis, Dextrocardia OMIM:617577
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Chronic sinusitis, Dextrocardia OMIM:614679
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, ... OMIM:613095
Megalocornea
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... OMIM:309300
Tricuspid Atresia
Patent foramen ovale, Ventricular septal defect, Transposition of the great arteries, Atrial sept... ORPHA:1209
Ciliary Dyskinesia, Primary, 25
Situs inversus totalis, Dextrocardia, Recurrent sinusitis, Microcephaly OMIM:615482
Thanatophoric Dysplasia Type 2
Patent ductus arteriosus, Encephalocele, Abnormality of the kidney, Hydrocephalus, Macrocephaly, ... ORPHA:93274
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Recurrent sinusitis, Dextrocardia OMIM:615067
Distal Tetrasomy 15Q
Retrognathia, Patent ductus arteriosus, Nephroblastoma, Micrognathia, Polycystic kidney dysplasia... ORPHA:314588
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Patent ductus arteriosus, Ventricular septal defect, Vascular ring, Atrial septal defect, Overrid... OMIM:601927
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Truncus arteriosus, Unilateral renal agenesis, Hydranencephaly, Microc... OMIM:601355
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Short 5th finger, Ventricular septal defect, Perimembranous ventricular septal defect, Secundum a... OMIM:600987
Renal Tubular Dysgenesis
Proximal tubulopathy, Nephropathy, Multiple renal cysts, Microcephaly, Tetralogy of Fallot, Renot... ORPHA:3033
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Feingold Syndrome 2
Ventricular septal defect, Short middle phalanx of the 5th finger, Short middle phalanx of the 2n... OMIM:614326
Anterior Segment Dysgenesis 8
Iris transillumination defect, Persistent pupillary membrane, Hypoplasia of the iris, Uveal ectro... OMIM:617319
Aortic Valve Disease 1
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Mitral stenosis, Bicusp... OMIM:109730
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Reduced renal corti... OMIM:617610
Indomethacin Embryofetopathy
Multicystic kidney dysplasia, Ventricular septal defect, Abnormal renal tubule morphology, Atrial... ORPHA:1909
Proximal Myotonic Myopathy
Cataract ORPHA:606
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Patent ductus arteriosus, Ventricular septal defect, Hydrocephalus, Hypoplasia ... ORPHA:77298
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Bicuspid aortic valve, Hydrocephalus, Secondary microcephaly, Microcephaly, Cerebral atrophy, Hyp... OMIM:615599
Meckel Syndrome, Type 7
Patent ductus arteriosus, Pancreatic cysts, Multicystic kidney dysplasia, Stage 5 chronic kidney ... OMIM:267010
Marden-Walker Syndrome
Renal dysplasia, Micrognathia, Abnormality of the urinary system, Multicystic kidney dysplasia, V... ORPHA:2461
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Dextrocardia, Chronic sinusitis, Ventricular septal defect OMIM:616037
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hepatic cysts, Mitral valve prolapse, Polycystic kidney dysplasia, Cerebral berry aneurysm, Renal... OMIM:173900
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Snijders Blok-Campeau Syndrome
Enamel hypoplasia, Perimembranous ventricular septal defect, Thin corpus callosum, Taurodontia, M... OMIM:618205
Ring Chromosome 21 Syndrome
Abnormal heart morphology, Holoprosencephaly, Small hand, Microcephaly ORPHA:1445
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
11 pairs of ribs, Short toe, Short 5th metacarpal, Perimembranous ventricular septal defect, Spin... OMIM:617877
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Trisomy 17P
Patent ductus arteriosus, Micrognathia, Polycystic kidney dysplasia, Hydrocephalus, Hypoplasia of... ORPHA:261290
Nathalie Syndrome
Cataract OMIM:255990
Sandestig-Stefanova Syndrome
Retrognathia, Primary microcephaly, Perimembranous ventricular septal defect, Muscular ventricula... OMIM:618804
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis, Recurrent sinusitis, Chronic sinusitis OMIM:612518
Feingold Syndrome Type 2
Short thumb, Short middle phalanx of finger, Ventricular septal defect, Microcephaly ORPHA:391646
Ciliary Dyskinesia, Primary, 23
Situs inversus totalis, Recurrent sinusitis OMIM:615451
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Dextrocardia, Chronic sinusitis OMIM:618063
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Macrocephaly, Hydrocephalus, Abnor... ORPHA:83473
Congenital Disorder Of Glycosylation, Type Il
Global brain atrophy, Abnormal cardiac septum morphology, Pericardial effusion, Polycystic kidney... OMIM:608776
Laterality Defects, Autosomal Dominant
Heterotaxy, Situs inversus totalis OMIM:601086
Mmep Syndrome
Mandibular prognathia, Ventricular septal defect, Microcephaly ORPHA:3434
Holoprosencephaly 14
Double outlet right ventricle, Aortic valve atresia, Ventricular septal defect, Aqueductal stenos... OMIM:619895
Gillessen-Kaesbach-Nishimura Syndrome
Retrognathia, Micrognathia, Polycystic kidney dysplasia, Abnormal heart morphology, Microcephaly OMIM:263210
Cataract 3, Multiple Types
Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract, Developmental cataract OMIM:601547
Ciliary Dyskinesia, Primary, 16
Situs inversus totalis, Chronic sinusitis OMIM:614017
Ciliary Dyskinesia, Primary, 24
Situs inversus totalis, Recurrent sinusitis OMIM:615481
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Ventricular septal defect, Thin corpus callosum, Atrial septal defect, Hypoplasia of the pons, Mi... OMIM:614249
Primary Ciliary Dyskinesia
Double outlet right ventricle, Hydrocephalus, Atrial situs ambiguous, Chronic sinusitis, Anomalou... ORPHA:244
Hydrocephalus, Congenital, 3, With Brain Anomalies
Cerebellar hypoplasia, Hydrocephalus, Hydranencephaly, Holoprosencephaly, Cerebellar agenesis, Da... OMIM:617967
Ciliary Dyskinesia, Primary, 13
Situs inversus totalis, Recurrent sinusitis OMIM:613193
Ciliary Dyskinesia, Primary, 7
Situs inversus totalis, Dextrocardia OMIM:611884
Triploidy
Meningocele, Aplasia/Hypoplasia of the corpus callosum, Abnormal cardiac septum morphology, Micro... ORPHA:3376
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Phenobarbital Embryopathy
Mandibular prognathia, Abnormal mitral valve morphology, Aplasia/Hypoplasia of fingers, Hypospadi... ORPHA:1919
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
Diabetic Embryopathy
Aplasia/Hypoplasia of the cerebellum, Abnormal aortic morphology, Spinal dysraphism, Aplasia/Hypo... ORPHA:1926
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Abdominal situs inversus, Chronic sinusitis, Dextrocardia OMIM:619607
Ciliary Dyskinesia, Primary, 9
Situs inversus totalis, Recurrent sinusitis, Chronic sinusitis OMIM:612444
Dextrocardia
Abnormality of abdominal situs, Hydrocephalus, Abnormality of the pulmonary artery, Abnormality o... ORPHA:1666
Exfoliation Syndrome
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... OMIM:177650
Ciliary Dyskinesia, Primary, 27
Situs inversus totalis, Recurrent sinusitis, Chronic sinusitis OMIM:615504
Spondylocostal Dysostosis 4, Autosomal Recessive
Unilateral vertebral artery hypoplasia, Myelomeningocele, Aplasia of posterior communicating arte... OMIM:613686
Bardet-Biedl Syndrome 17
Stage 5 chronic kidney disease, Renal cyst, Situs inversus totalis, Dextrocardia, Polyuria, Short... OMIM:615994
Partial Atrioventricular Septal Defect
Patent ductus arteriosus, Double outlet right ventricle, Partial atrioventricular canal defect, B... ORPHA:1330
Congenital Heart Defects, Multiple Types, 2
Subvalvular aortic stenosis, Ventricular septal defect, Bicuspid aortic valve, Aortic aneurysm, A... OMIM:614980
Fetal Minoxidil Syndrome
Micrognathia, Ventricular septal defect ORPHA:1918
Hypoglossia With Situs Inversus
Micrognathia, Situs inversus totalis OMIM:612776
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Megalocornea, Deep anterior chamber, Ectopia lentis, Microspherophakia, Iridodonesis OMIM:251750
Heterotaxy, Visceral, 1, X-Linked
Subvalvular aortic stenosis, Atrioventricular canal defect, Abdominal situs inversus, Right atria... OMIM:306955
Conotruncal Heart Malformations
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Complete atrioventricula... OMIM:217095
Mungan Syndrome
Renal hypoplasia, Vesicoureteral reflux, Pulmonic stenosis, Perimembranous ventricular septal defect OMIM:611376
Aniridia 2
Lens subluxation, Cataract, Iris coloboma, Aniridia OMIM:617141
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Renal hypoplasia/aplasia, Missing ribs... ORPHA:3186
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Heterotaxy, Visceral, 5, Autosomal
Atrioventricular canal defect, Ascending tubular aorta aneurysm, Abdominal situs ambiguus, Abdomi... OMIM:270100
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Vascular dilatation OMIM:614859
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Atrioventricular canal defect, Short 5th finger, Truncus arteriosus, Micrognathia, Optic nerve hy... ORPHA:508498
Ciliary Dyskinesia, Primary, 28
Situs inversus totalis, Recurrent sinusitis OMIM:615505
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hypoplasia of the brainstem, Encephalocele, Cerebellar hypoplasia, Agyria, Hydrocephalus, Hypopla... OMIM:253800
Ciliary Dyskinesia, Primary, 35
Situs inversus totalis, Abdominal situs ambiguus, Chronic sinusitis OMIM:617092
Acalvaria
Spina bifida, Holoprosencephaly, Hydrocephalus, Aplasia/Hypoplasia of the cerebellum ORPHA:945
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Short toe, Patent ductus arteriosus, Ventricular sep... OMIM:615297
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly, Macrocephaly OMIM:300706
Distal Monosomy 7Q36
Micrognathia, Holoprosencephaly, Hypoplasia of penis, Microcephaly ORPHA:1636
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Ciliary Dyskinesia, Primary, 18
Situs inversus totalis, Abdominal situs ambiguus, Recurrent sinusitis OMIM:614874
Meckel Syndrome, Type 4
Meningocele, Encephalocele, Ventricular septal defect, Anencephaly, Hydrocephalus, Atrial septal ... OMIM:611134
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Dextrocardia, Sinusitis OMIM:606763
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Hyperferritinemia With Or Without Cataract
Pulverulent cataract, Nuclear cataract OMIM:600886
Ciliary Dyskinesia, Primary, 32
Situs inversus totalis, Chronic sinusitis OMIM:616481
Ciliary Dyskinesia, Primary, 12
Situs inversus totalis, Chronic sinusitis OMIM:612650
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Partial atrioventricular canal defect, Chronic sinusitis, Primum atrial s... OMIM:619608
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal aortic morphology, Truncus arteriosus, Ventricular septal defect, Renal hypoplasia/aplas... ORPHA:2516
Nemaline Myopathy 9
Micrognathia, Ventricular septal defect OMIM:615731
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Carnitine Palmitoyltransferase Ii Deficiency
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Hydroc... ORPHA:157
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Tubulointerstitial nephritis, Polycystic kidney dysplasia, Hydrocephalus, Dicarboxylic aciduria, ... ORPHA:228308
Joubert Syndrome 18
Retrognathia, Ventricular septal defect, Arrhinencephaly, Renal cyst, Horseshoe kidney, Occipital... OMIM:614815
Renal-Hepatic-Pancreatic Dysplasia 1
Patent ductus arteriosus, Pancreatic cysts, Renal dysplasia, Stage 5 chronic kidney disease, Enla... OMIM:208540
Atrial Septal Defect 2
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Atrial septal... OMIM:607941
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Linear Skin Defects With Multiple Congenital Anomalies 1
Histiocytoid cardiomyopathy, Ventricular septal defect, Hydrocephalus, Atrial septal defect, Hypo... OMIM:309801
Vissers-Bodmer Syndrome
Holoprosencephaly, Decreased head circumference OMIM:619033
Heart Defects-Limb Shortening Syndrome
Mesomelic/rhizomelic limb shortening, Ventricular septal defect, Abnormal mitral valve morphology... ORPHA:1354
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul... OMIM:613759
Meckel Syndrome, Type 11
Polycystic kidney dysplasia, Occipital encephalocele OMIM:615397
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Perimembranous ventricular septal defect, Ebstein anomaly of the t... OMIM:613426
Cataract 20, Multiple Types
Cortical cataract, Sutural cataract, Lamellar cataract, Membranous cataract OMIM:116100
Heart Defects, Congenital, And Other Congenital Anomalies
Patent ductus arteriosus, Patent foramen ovale, Truncus arteriosus, Ventricular septal defect, Pe... OMIM:600001
Ciliary Dyskinesia, Primary, 26
Situs inversus totalis, Recurrent sinusitis OMIM:615500
Cataract 5, Multiple Types
Lamellar cataract, Zonular cataract, Pulverulent cataract, Anterior polar cataract, Nuclear cataract OMIM:116800
Meckel Syndrome 14
Retrognathia, Micrognathia, Polycystic kidney dysplasia, Microretrognathia, Holoprosencephaly, Si... OMIM:619879
Ciliary Dyskinesia, Primary, 14
Heterotaxy, Situs inversus totalis, Chronic sinusitis OMIM:613807
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Retrognathia, Patent ductus arteriosus, Crossed fused renal ectopia, Ventricular septal defect, H... OMIM:618142
Cataract 17, Multiple Types
Nuclear cataract, Pulverulent cataract, Developmental cataract, Microcornea OMIM:611544
Aortic Aneurysm, Familial Thoracic 4
Patent ductus arteriosus, Carotid artery stenosis, Ascending tubular aorta aneurysm, Posterior ce... OMIM:132900
Congenital Disorder Of Glycosylation, Type Iie
Retrognathia, Perimembranous ventricular septal defect, Neurogenic bladder, Micrognathia, Secundu... OMIM:608779
Scimitar Syndrome
Truncus arteriosus, Abnormal vena cava morphology, Double outlet right ventricle, Ventricular sep... ORPHA:185
Lethal Congenital Contracture Syndrome 10
Micrognathia, Overriding aorta, Cardiomegaly, Ventricular septal defect OMIM:617022
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the corpus callosum, Renal hypoplasia/apla... ORPHA:1988
Ectopia Lentis Et Pupillae
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Bardet-Biedl Syndrome 19
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Hypoplastic left heart... OMIM:615996
Maternal Phenylketonuria
Double outlet right ventricle, Ventricular septal defect, Micrognathia, Coarctation of aorta, Hyp... ORPHA:2209
Polycystic Kidney Disease 7
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal atrophy, Multiple renal cysts,... OMIM:620056
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Holoprosencephaly-Postaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Abnormal cardiac septum morphology, Hyp... ORPHA:2166
Fetal Trimethadione Syndrome
Ventricular septal defect, Micrognathia, Atrial septal defect, Hypospadias, Microcephaly, Tetralo... ORPHA:1913
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Patent ductus arteriosus, Short toe, Short 5th metacarpal, Bicuspid aortic valve, Short finger, P... OMIM:604381
Pagod Syndrome
Meningocele, Abnormal aortic morphology, Multicystic kidney dysplasia, Encephalocele, Spina bifid... ORPHA:991
Coats Disease
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology ORPHA:190
Chromosome 9P Deletion Syndrome
Retrognathia, Patent ductus arteriosus, Ventricular septal defect, Perimembranous ventricular sep... OMIM:158170
Phelan-Mcdermid Syndrome
Patent ductus arteriosus, Dental malocclusion, Vesicoureteral reflux, Abnormal periventricular wh... OMIM:606232
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ventricular septal defect, Cerebellar hypoplasia, Cystic renal dysplasia, Ectopic kidney, Seconda... OMIM:613730
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Cerebellar hypoplasia, Atrial septal defect, ... OMIM:612946
Holoprosencephaly 11
Holoprosencephaly, Microcephaly, Agenesis of corpus callosum OMIM:614226
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Congenitally Corrected Transposition Of The Great Arteries
Bilateral superior vena cava with bridging vein, Abnormal left ventricular outflow tract morpholo... ORPHA:216694
Holoprosencephaly 13, X-Linked
Patent ductus arteriosus, Double outlet right ventricle, Patent foramen ovale, Ventricular septal... OMIM:301043
8P23.1 Duplication Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis ORPHA:251076
Ciliary Dyskinesia, Primary, 22
Situs inversus totalis, Dextrocardia, Recurrent sinusitis OMIM:615444
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Patent ductus arteriosus, Double outlet right ventricle, Unbalanced atrioventricular canal defect... OMIM:619657
Ellis Van Creveld Syndrome
Atrioventricular canal defect, Ventricular septal defect, Delayed eruption of teeth, Renal hypopl... ORPHA:289
Mesoaxial Hexadactyly And Cardiac Malformation
Patent ductus arteriosus, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect OMIM:249670
Congenital Gerbode Defect
Bacterial endocarditis, Vascular dilatation, Ventricular septal defect, Perimembranous ventricula... ORPHA:99095
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Patent ductus arteriosus, Bicuspid aortic valve, Short 5th metacarpal, Pseudocoarctation of the a... ORPHA:228190
Laubry-Pezzi Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ascending tubular aorta aneurysm, Ventricular sep... ORPHA:99094
Short Rib-Polydactyly Syndrome
Short tibia, Urogenital sinus anomaly, Disproportionate shortening of the tibia, Hepatic cysts, A... ORPHA:1505
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... OMIM:269400
Odontochondrodysplasia 1
Dentinogenesis imperfecta, Short metacarpal, Delayed eruption of teeth, Polycystic kidney dysplas... OMIM:184260
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Ventricular septal defect, Transposition of the great arteries, Bi... OMIM:613751
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve, Hydrocephalus, Secondary microcephaly, Cerebral atrophy, Hypoplasia of the... ORPHA:397951
Peroxisome Biogenesis Disorder 12A (Zellweger)
Patent ductus arteriosus, Double outlet right ventricle, Hydrocephalus, Prominence of the premaxi... OMIM:614886
Apert Syndrome
Rhizomelic arm shortening, Dental malocclusion, Mandibular prognathia, Ventricular septal defect,... OMIM:101200
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Micrognathia, Ventricular septal defect, Atrial septal defect OMIM:608227
Verheij Syndrome
Short 5th finger, Abnormal cardiac septum morphology, Renal agenesis, Renal cyst, Microcephaly, C... OMIM:615583
Holoprosencephaly-Caudal Dysgenesis Syndrome
Holoprosencephaly, Renal insufficiency, Microcephaly, Abnormal cerebral vascular morphology ORPHA:2165
Catel-Manzke Syndrome
Micrognathia, Malar flattening, Ventricular septal defect, Atrial septal defect ORPHA:1388
Joubert Syndrome
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Biparietal narrowing, Hydrocephalus, Ce... ORPHA:475
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... ORPHA:708
Beaulieu-Boycott-Innes Syndrome
Patent ductus arteriosus, Dental malocclusion, Ventricular septal defect, Recurrent urinary tract... OMIM:613680
Cataract 41
Nuclear cataract OMIM:116400
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 18
Nuclear cataract OMIM:610019
Structural Heart Defects And Renal Anomalies Syndrome
Truncus arteriosus, Ventricular septal defect, Interrupted aortic arch, Atrial septal defect, Ren... OMIM:617478
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Ventricular septal defect, Perimembranous ventricular septal defect, Renal... OMIM:301040
Short-Rib Thoracic Dysplasia 12
Patent ductus arteriosus, Short toe, Patent foramen ovale, Short foot, Natal tooth, Short ribs, V... OMIM:269860
Cataract 39, Multiple Types
Anterior polar cataract, Lamellar cataract, Developmental cataract OMIM:615188
Retinitis Pigmentosa 40
Cataract OMIM:613801
Halperin-Birk Syndrome
Micrognathia, Semilobar holoprosencephaly, Agenesis of corpus callosum, Perimembranous ventricula... OMIM:618651
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect, Microcephaly ORPHA:2515
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Retrognathia, Double outlet right ventricle, Vesicoureteral reflux, Global brain atrophy, Ventric... OMIM:301056
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect, Cerebral atrophy ORPHA:306550
Thomas Syndrome
Hypoplastic left heart, Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Cataract 2, Multiple Types
Developmental cataract, Microcornea, Aculeiform cataract, Nuclear cataract, Nuclear pulverulent c... OMIM:604307
Cataract 21, Multiple Types
Cortical pulverulent cataract, Cerulean cataract, Microcornea, Iris coloboma, Peters anomaly, Cor... OMIM:610202
Ciliary Dyskinesia, Primary, 19
Situs inversus totalis, Recurrent sinusitis OMIM:614935
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Alagille Syndrome 2
Renal insufficiency, Renal tubular acidosis, Hematuria, Atrial septal defect, Renal cyst, Periphe... OMIM:610205
Microphthalmia, Syndromic 12
Retrognathia, Micrognathia, Hypoplastic left atrium, Ventricular septal defect OMIM:615524
Rhizomelic Syndrome
Micrognathia, Pulmonic stenosis, Rhizomelia, Microcephaly OMIM:268250
Double Outlet Right Ventricle
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Coarctation of aort... ORPHA:3426
Pellagra-Like Syndrome
Cataract OMIM:260650
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Renal dysplasia, Enlarged kidney, Polycystic kidney dysplasia... OMIM:608836
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Spina bifida, Anencephaly, Hypoplastic left heart, Aplasia/Hypoplasia ... ORPHA:2476
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Patent ductus arteriosus, Patent foramen ovale, Double outlet right ventricle, Ventricular septal... OMIM:618316
Dandy-Walker Malformation With Postaxial Polydactyly
Patent ductus arteriosus, Vascular dilatation, Hydrocephalus, Macrocephaly, Microretrognathia, Po... OMIM:220220
Orofaciodigital Syndrome I
Pancreatic cysts, Enamel hypoplasia, Vascular dilatation, Myelomeningocele, Hepatic cysts, Abnorm... OMIM:311200
Leber Congenital Amaurosis 6
Cataract, Keratoconus OMIM:613826
Ventricular Septal Defect 3
Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect OMIM:614432
Ciliary Dyskinesia, Primary, 15
Situs inversus totalis, Chronic sinusitis OMIM:613808
Aortic Valve Disease 3
Aortic root aneurysm, Bicuspid aortic valve, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Dilatation of the cerebral artery, Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Congenital Disorder Of Glycosylation, Type Ih
Patent ductus arteriosus, Perimembranous ventricular septal defect OMIM:608104
16P13.11 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... ORPHA:261243
Ciliary Dyskinesia, Primary, 5
Situs inversus totalis, Recurrent sinusitis OMIM:608647
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Atrial septal defect OMIM:253300
Microform Holoprosencephaly
Renal agenesis, Hypoplasia of penis, Holoprosencephaly, Microcephaly, Tetralogy of Fallot, Agenes... ORPHA:280200
Orofaciodigital Syndrome Xiv
Micrognathia, Holoprosencephaly, Polymicrogyria, Ventricular septal defect, Short ribs, Supernume... OMIM:615948
Monosomy 18P
Carious teeth, Micrognathia, Holoprosencephaly, Microcephaly ORPHA:1598
Mosaic Variegated Aneuploidy Syndrome
Subvalvular aortic stenosis, Nephroblastoma, Abnormal aortic morphology, Multicystic kidney dyspl... ORPHA:1052
Meckel Syndrome
Pancreatic cysts, Urethral atresia, Multicystic kidney dysplasia, Encephalocele, Aplasia/Hypoplas... ORPHA:564
Primary Non-Essential Cutis Verticis Gyrata
Periventricular leukomalacia, Ventricular septal defect, Atrial septal defect, Microcephaly ORPHA:357225
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Ciliary Dyskinesia, Primary, 1
Absent frontal sinuses, Situs inversus totalis, Chronic sinusitis, Communicating hydrocephalus OMIM:244400
Pallister-Hall Syndrome
Patent ductus arteriosus, Short 4th metacarpal, Ventricular septal defect, Natal tooth, Renal dys... OMIM:146510
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Hypoplastic Left Heart Syndrome 1
Hypoplastic left heart, Aortic valve stenosis, Coarctation of aorta OMIM:241550
Cataract 30, Multiple Types
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract OMIM:116300
Anterior Segment Dysgenesis 1
Ocular anterior segment dysgenesis, Posterior polar cataract, Microcornea, Peters anomaly, Opacif... OMIM:107250
Joubert Syndrome 39
Hypoplastic left heart, Occipital encephalocele, Polycystic kidney dysplasia, Cerebellar vermis h... OMIM:619562
Isolated Dandy-Walker Malformation
Aplasia/Hypoplasia of the corpus callosum, Tetralogy of Fallot, Encephalocele, Dandy-Walker malfo... ORPHA:217
Isolated Aniridia
Cataract, Peters anomaly, Aniridia ORPHA:250923
Chromosome 1Q41-Q42 Deletion Syndrome
Cerebellar hypoplasia, Holoprosencephaly, Ventricular septal defect, Microcephaly OMIM:612530
Microphthalmia, Isolated, With Coloboma 5
Holoprosencephaly OMIM:611638
14Q11.2 Microdeletion Syndrome
Patent ductus arteriosus, Micrognathia, Ventricular septal defect ORPHA:261120
Oculoauriculofrontonasal Syndrome
Encephalocele, Ventricular septal defect, Micrognathia, Macrocephaly, Pericallosal lipoma, Microc... ORPHA:398156
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis OMIM:615434
Peroxisome Biogenesis Disorder 2A (Zellweger)
Polycystic kidney dysplasia, Micrognathia, Aminoaciduria, Abnormal heart morphology OMIM:214110
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Diamond-Blackfan Anemia 6
Retrognathia, Ventricular hypertrophy, Patent ductus arteriosus, Ventricular septal defect, Micro... OMIM:612561
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma OMIM:120433
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Short ribs, Micrognathia, Polycystic kidney dysplasia, Hydrocephalus, Missing ribs, Micromelia, H... OMIM:617866
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Absent septum pellucidum, Agenesis of corp... ORPHA:2182
16P13.11 Microdeletion Syndrome
Ventricular septal defect, Atrial septal defect, Holoprosencephaly, Microcephaly, Agenesis of cor... ORPHA:261236
Hartsfield Syndrome
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Aplasia/Hypoplasia of the radius, Lobar... ORPHA:2117
Jacobsen Syndrome
Ventricular septal defect, Micrognathia, Missing ribs, Hydrocephalus, Macrocephaly, Atrial septal... OMIM:147791
Grange Syndrome
Patent ductus arteriosus, Short palm, Ventricular septal defect, Arterial stenosis ORPHA:79094
Craniofacial Dyssynostosis With Short Stature
Patent ductus arteriosus, Ventricular septal defect, Hydrocephalus, Hypospadias, Horseshoe kidney... OMIM:218350
Multiple Acyl-Coa Dehydrogenase Deficiency
Polycystic kidney dysplasia, Macrocephaly, Lacticaciduria, Abnormal heart morphology, Glutaric ac... ORPHA:26791
Xk Aprosencephaly Syndrome
Ventricular septal defect, Atrial septal defect, Microcephaly ORPHA:3469
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hypoplasia of the frontal lobes, Micrognathia, Short femur, Limb undergrowth, Polymicrogyria, Pat... OMIM:210710
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Cerebral hemorrhage, Cerebellar hypoplasia, Bicuspid aortic valve, Thin... OMIM:300049
Congenitally Uncorrected Transposition Of The Great Arteries
Patent ductus arteriosus, Ventricular septal defect, Abnormal mitral valve morphology, Levotransp... ORPHA:860
22Q11.2 Duplication Syndrome
Ventricular septal defect, Micrognathia, Interrupted aortic arch, Hypoplastic left heart, Urethra... ORPHA:1727
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency OMIM:615987
49,Xxxxy Syndrome
Mandibular prognathia, Delayed eruption of teeth, Renal dysplasia, Renal hypoplasia/aplasia, Arrh... ORPHA:96264
Steinfeld Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Unilateral renal dysplasia, Missing ri... OMIM:184705
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Nephroblastoma, Ventricular septal defect, Cavum septum pellucidum, Hydrocephalus, Megalencephaly... OMIM:602501
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Coenzyme Q10 Deficiency, Primary, 7
Patent ductus arteriosus, Ventricular septal defect, Cerebellar hypoplasia, Hypoplastic left hear... OMIM:616276
Trisomy 18
Aplasia/Hypoplasia of the corpus callosum, Ventricular septal defect, Spina bifida, Anencephaly, ... ORPHA:3380
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glomerular filtration rate... OMIM:618061
Cataract 31, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Anterior subcapsular cataract OMIM:605387
Charge Syndrome
Micrognathia, Secundum atrial septal defect, Holoprosencephaly, Double outlet right ventricle, Ve... OMIM:214800
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Thick cerebral cortex, Abn... ORPHA:261183
Atrioventricular Septal Defect 5
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Chromosome 3Q13.31 Deletion Syndrome
Agenesis of corpus callosum, Micropenis, Alobar holoprosencephaly OMIM:615433
Autosomal Dominant Coarctation Of Aorta
Patent ductus arteriosus, Aortic arch aneurysm, Ventricular septal defect, Abnormal aortic arch m... ORPHA:1455
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial septal defect, Left ventr... OMIM:108900
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Aplasia/Hypoplasia of the cerebellum, Ventricular septal defect, Hypoplasia of penis, Hypoplastic... ORPHA:2772
Lambert Syndrome
Aplasia/Hypoplasia of the cerebellum, Malar flattening, Hypospadias, Ventricular septal defect ORPHA:1296
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus, Aplasia/Hypoplasia of the cerebellum ORPHA:588
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Patent ductus arteriosus, Bicuspid aortic valve, Microcephaly, Atrial septal defect OMIM:613355
Hyperparathyroidism 2 With Jaw Tumors
Nephroblastoma, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Renal cortical adeno... OMIM:145001
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Patent ductus arteriosus, Patent foramen ovale, Abnormal periventricular white matter morphology,... ORPHA:500159
Cataract 48
Cataract OMIM:618415
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Renal dysplasia, Cystic renal dysplasia, Renal insufficiency, Hyperechogen... OMIM:601331
Catel-Manzke Syndrome
Short toe, Ventricular septal defect, Short metacarpal, Micrognathia, Short femur, Coarctation of... OMIM:616145
Atrial Septal Defect 1
Subvalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot with pulmonary atresi... OMIM:108800
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... ORPHA:67043
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
Anterior Segment Dysgenesis 2
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... OMIM:610256
Congenital Varicella Syndrome
Cataract ORPHA:291
X-Linked Lissencephaly With Abnormal Genitalia
Patent ductus arteriosus, Ventricular septal defect, Micrognathia, Hypoplasia of penis, Microceph... ORPHA:452
Bardet-Biedl Syndrome 16
Renal dysplasia, Stage 5 chronic kidney disease, Renal agenesis, Renal cyst, Renal insufficiency OMIM:615993
Hajdu-Cheney Syndrome
Patent ductus arteriosus, Dental malocclusion, Ventricular septal defect, Micrognathia, Polycysti... OMIM:102500
Nephrotic Syndrome, Type 11
Renal tubular atrophy, IgA deposition in the glomerulus, Ventricular septal defect, Nephrotic syn... OMIM:616730
Autosomal Dominant Keratitis
Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neovascularization, Micr... ORPHA:2334
Exudative Vitreoretinopathy 6
Cataract OMIM:616468
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Delayed eruption of permanent teeth, Ventricular septal defect, Microcephaly OMIM:618506
Renpenning Syndrome 1
Mandibular prognathia, Ventricular septal defect, Micrognathia, Phimosis, Atrial septal defect, H... OMIM:309500
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lens subluxation, Cataract OMIM:614292
Fanconi Anemia, Complementation Group O
Absent thumb, Hypoplasia of the radius, Stage 5 chronic kidney disease, Renal cyst, Abnormal hear... OMIM:613390
Williams Syndrome
Aortic arch aneurysm, Cerebral cortical atrophy, Abnormal cardiac septum morphology, Abnormal car... ORPHA:904
Prune Belly Syndrome
Patent ductus arteriosus, Vesicoureteral reflux, Urogenital sinus anomaly, Multicystic kidney dys... ORPHA:2970
Meckel Syndrome, Type 1
Patent ductus arteriosus, Vascular dilatation, Hypoplasia of the bladder, Abnormal cardiac septum... OMIM:249000
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Malar flattening, Mandibular prognathia, Ventricular septal defect, Aplasia/Hypoplasia of the dis... ORPHA:94066
Aortic Valve Disease 2
Aortic tortuosity, Patent foramen ovale, Bicuspid aortic valve, Aortic aneurysm, Calcification of... OMIM:614823
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
Holoprosencephaly
Aplasia/Hypoplasia of the cerebellum, Abnormality of the urinary system, Abnormal aortic morpholo... ORPHA:2162
Nephronophthisis 20
Vesicoureteral reflux, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Renal insuff... OMIM:617271
Peroxisome Biogenesis Disorder 5A (Zellweger)
Ventricular septal defect, Cerebellar hypoplasia, Micrognathia, Polycystic kidney dysplasia, Macr... OMIM:614866
Cataract 15, Multiple Types
Cortical cataract, Lamellar cataract, Nuclear cataract OMIM:615274
Femoral-Facial Syndrome
Truncus arteriosus, Ventricular septal defect, Aplasia/hypoplasia of the femur, Micrognathia, Pol... OMIM:134780
Cataract 33, Multiple Types
Cortical cataract, Lamellar cataract, Nuclear cataract OMIM:611391
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Ventricular septal defect OMIM:619717
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short ribs, Polycystic kidney dysplasia, Renal cyst, Hypospadias, Mesomelia, Micromelia, Renal hy... OMIM:614091
22Q11.2 Deletion Syndrome
Meningocele, Truncus arteriosus, Micrognathia, Retinal arteriolar tortuosity, Abnormal aortic arc... ORPHA:567
Isotretinoin-Like Syndrome
Patent ductus arteriosus, Conotruncal defect, Micrognathia, Bicuspid aortic valve, Hydrocephalus,... ORPHA:2306
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Aplasia/Hypoplasia of the fibula, Ventricular septal defect, Micrognathia, Hypoplasia of penis, H... ORPHA:2256
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Syndromic Diarrhea
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Polycystic kidney dys... ORPHA:84064
Smith-Lemli-Opitz Syndrome
Hypoplasia of the frontal lobes, Global brain atrophy, Micrognathia, Hypertrophic cardiomyopathy,... OMIM:270400
14Q24.1Q24.3 Microdeletion Syndrome
Truncus arteriosus, Ventricular septal defect, Atrial septal defect, Ectopic kidney, Abnormal hea... ORPHA:401935
Galloway-Mowat Syndrome 7
Renal tubular atrophy, IgA deposition in the glomerulus, Ventricular septal defect, Nephrotic syn... OMIM:618348
Smith-Lemli-Opitz Syndrome
Atrioventricular canal defect, Micrognathia, Biparietal narrowing, Holoprosencephaly, Abnormal de... ORPHA:818
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Corneal opacity, Band keratopathy, Abnormal corneal endothelium morphology ORPHA:293621
Li-Campeau Syndrome
Patent ductus arteriosus, Patent foramen ovale, Patellar hypoplasia, Ventricular septal defect, A... OMIM:619189
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Pancreatic cysts, Multiple small medullary renal cysts, Enlarged kidney, Polycystic kidney dyspla... OMIM:263200
Multiple Acyl-Coa Dehydrogenase Deficiency
Proximal tubulopathy, Renal cortical cysts, Glycosuria, Polycystic kidney dysplasia, Macrocephaly... OMIM:231680
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Short femoral neck, Lobar holoprosencephaly, Microcephaly, Enamel agenesis, Tetralogy of Fallot OMIM:614701
Autosomal Dominant Polycystic Kidney Disease
Aortic root aneurysm, Pancreatic cysts, Hepatic cysts, Recurrent urinary tract infections, Stage ... ORPHA:730
Emanuel Syndrome
Patent ductus arteriosus, Broad jaw, Truncus arteriosus, Delayed eruption of primary teeth, Ventr... OMIM:609029
Say Syndrome
Micrognathia, Cystic renal dysplasia, Proximal renal tubular acidosis, Microcephaly, Short distal... OMIM:181180
Absence Deformity Of Leg-Cataract Syndrome
Cataract ORPHA:2310
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Microcephaly-Capillary Malformation Syndrome
Patent foramen ovale, Vesicoureteral reflux, Ventricular septal defect, Atrial septal defect, Hyp... OMIM:614261
Hepatorenocardiac Degenerative Fibrosis
Renal interstitial fibrosis, Enlarged kidney, Renal cyst, Hypertrophic cardiomyopathy, Reduced re... OMIM:619902
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Mitral valve pro... ORPHA:371428
Aorto-Ventricular Tunnel
Aortic root aneurysm, Ventricular hypertrophy, Abnormal aortic morphology, Aorto-ventricular tunn... ORPHA:3400
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventricular septal defect, Vascular ring, Thick corpus callosum, Hydrocephalus, Macrocephaly, Atr... OMIM:603387
Proboscis Lateralis
Abnormal paranasal sinus morphology, Patent ductus arteriosus, Ureteral agenesis, Ventricular sep... ORPHA:141099
Edict Syndrome
Hypoplasia of the iris, Microcornea, Astigmatism, Anterior polar cataract, Keratoconus OMIM:614303
Joubert Syndrome 14
Meningocele, Hypoplasia of the brainstem, Encephalocele, Ventricular septal defect, Hydrocephalus... OMIM:614424
Polysyndactyly With Cardiac Malformation
Renal cyst, Hepatic cysts, Ventricular septal defect, Atrial septal defect OMIM:263630
Holoprosencephaly-Craniosynostosis Syndrome
Short distal phalanx of finger, Holoprosencephaly, Microcephaly, Hypoplastic vertebral bodies ORPHA:2163
Rubinstein-Taybi Syndrome 1
Hyperintensity of cerebral white matter on MRI, Micrognathia, Spina bifida occulta, Aortic isthmu... OMIM:180849
Chromosome 13Q14 Deletion Syndrome
Patent foramen ovale, Ventricular septal defect, Micrognathia, Holoprosencephaly, Hypoplasia of t... OMIM:613884
Endocrine-Cerebroosteodysplasia
Aplasia/Hypoplasia of the cerebellum, Focal polymicrogyria, Natal tooth, Microphallus, Micrognath... OMIM:612651
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Fetal Encasement Syndrome
Upper limb undergrowth, Lower limb undergrowth, Horseshoe kidney, Tetralogy of Fallot, Increased ... OMIM:613630
Floating-Harbor Syndrome
Congenital posterior urethral valve, Stage 5 chronic kidney disease, Polycystic kidney dysplasia,... ORPHA:2044
Stankiewicz-Isidor Syndrome
Retrognathia, Patent ductus arteriosus, Absent thumb, Truncus arteriosus, Ventricular septal defe... OMIM:617516
Kleefstra Syndrome
Vesicoureteral reflux, Mandibular prognathia, Cerebral cortical atrophy, Ventricular septal defec... ORPHA:261494
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Disproportionate shortening of the tibia, Ventricular septal defect, Short ribs, Polycystic kidne... OMIM:263520
Meacham Syndrome
Patent ductus arteriosus, Ventricular septal defect, Cardiac total anomalous pulmonary venous con... OMIM:608978
Skraban-Deardorff Syndrome
Ventricular septal defect, Micrognathia, Hyperplasia of the maxilla, Hypoplasia of the corpus cal... OMIM:617616
Braddock-Carey Syndrome 1
Enamel hypoplasia, Multicystic kidney dysplasia, Small hand, Ventricular septal defect, Aortic va... OMIM:619980
Cardiac Diverticulum
Bicuspid pulmonary valve, Pulmonary artery stenosis, Endocarditis, Patent foramen ovale, Ventricu... ORPHA:1686
Weill-Marchesani Syndrome
Aortic valve stenosis, Short thumb, Pulmonic stenosis, Ventricular septal defect ORPHA:3449
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Urethral atresia, Isomerism, Enlarged kidney, Hydrocephalus, Short... OMIM:314390
Intellectual Developmental Disorder, Autosomal Dominant 48
Patent ductus arteriosus, Hypoplasia of the brainstem, Ventricular septal defect, Cerebellar hypo... OMIM:617751
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Left Ventricular Noncompaction 1
Patent ductus arteriosus, Ventricular septal defect, Left ventricular hypertrophy, Noncompaction ... OMIM:604169
Encephalocraniocutaneous Lipomatosis
Subvalvular aortic stenosis, Ventricular septal defect, Cerebellar hypoplasia, Porencephalic cyst... OMIM:613001
Distal Monosomy 12Q
Patent ductus arteriosus, Patent foramen ovale, Vesicoureteral reflux, Congenital hypertrophy of ... ORPHA:96149
Ventriculomegaly With Cystic Kidney Disease
Vascular dilatation, Ventricular septal defect, Renal corticomedullary cysts, Hydrocephalus, Rena... OMIM:219730
Cataract 40
Sutural cataract, Nuclear cataract OMIM:302200
Ogden Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Perimembranous ventric... OMIM:300855
3C Syndrome
Aplasia/Hypoplasia of the cerebellum, Atrioventricular canal defect, Ventricular septal defect, A... ORPHA:7
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Tubulointerstitial nephritis, Ventricular septal defect, Natal tooth, Micrognathia, Hematuria, Pr... OMIM:616901
Microphthalmia, Syndromic 9
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Renal malrotation, Micro... OMIM:601186
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Abnormal cardiac septum morphology, Micrognathia, Hydrocephalus, Hy... ORPHA:2075
Cataract 24
Anterior polar cataract OMIM:601202
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypoplasia of the frontal lobes, Lobar holoprosencephaly, Lissencephaly, Optic nerve hypoplasia, ... ORPHA:468631
Retinitis Pigmentosa 9
Cataract OMIM:180104
8Q12 Microduplication Syndrome
Vesicoureteral reflux, Short foot, Ventricular septal defect, Atrial septal defect ORPHA:228399
Intellectual Developmental Disorder, Autosomal Recessive 71
Unilateral renal agenesis, Micropenis, Macrocephaly, Ventricular septal defect OMIM:618504
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Renal tubular atrophy, Patent foramen ovale, Aminoaciduria, Ventricular septal defect, Renal tubu... OMIM:208085
Distal Monosomy 15Q
Patent ductus arteriosus, Mitral atresia, Multicystic kidney dysplasia, Double outlet right ventr... ORPHA:1596
Yuan-Harel-Lupski Syndrome
Bicuspid aortic valve, Double outlet right ventricle, Aortic root aneurysm, Ventricular septal de... OMIM:616652
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Horseshoe k... OMIM:617805
Aortic Arch Interruption
Patent ductus arteriosus, Double outlet right ventricle, Aortic valve atresia, Abnormal ascending... ORPHA:2299
Lethal Congenital Contracture Syndrome 2
Micrognathia, Hydronephrosis, Ventricular septal defect, Dilated cardiomyopathy OMIM:607598
Tuberous Sclerosis Complex
Noncommunicating hydrocephalus, Renal angiomyolipoma, Cardiac rhabdomyoma, Stage 5 chronic kidney... ORPHA:805
Hypotonia, Infantile, With Psychomotor Retardation
Hypoplasia of the corpus callosum, Ventricular septal defect OMIM:616816
Global Developmental Delay With Or Without Impaired Intellectual Development
Patent ductus arteriosus, Hypospadias, Ventricular septal defect, Atrial septal defect OMIM:618330
Branchiootorenal Syndrome 1
Renal steatosis, Vesicoureteral reflux, Abnormal cerebral morphology, Renal dysplasia, Renal malr... OMIM:113650
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:116600
Iniencephaly
Mandibular aplasia, Spinal dysraphism, Rhizomelia, Encephalocele, Myelomeningocele, Spina bifida,... ORPHA:63259
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Spina bifida, Bicuspid aortic valve, Abn... ORPHA:1120
Noonan Syndrome 12
11 pairs of ribs, Tetralogy of Fallot, Ventricular septal defect OMIM:618624
Leber Congenital Amaurosis 16
Cataract OMIM:614186
Johnson Neuroectodermal Syndrome
Retrognathia, Patent ductus arteriosus, Ventricular septal defect, Microcephaly, Carious teeth, R... OMIM:147770
Congenital Disorder Of Glycosylation, Type Iil
Retrognathia, Enamel hypoplasia, Patent ductus arteriosus, Proximal tubulopathy, Ventricular sept... OMIM:614576
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Cataract, Iris coloboma, Posterior embryotoxon ORPHA:1473
Trisomy 1Q
Patent ductus arteriosus, Multicystic kidney dysplasia, Congenital megaureter, Ventricular septal... ORPHA:261344
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Carious teeth, Macrocephaly, Multicystic kidney dysplasia ORPHA:3270
46,Xx Sex Reversal 5
Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect, Urogenital sinu... OMIM:618901
Holoprosencephaly, Semilobar, With Craniosynostosis
Short distal phalanx of finger, Semilobar holoprosencephaly, Hypoplastic vertebral bodies OMIM:601370
Cardiac Valvular Dysplasia 1
Hypoplasia of right ventricle, Patent foramen ovale, Left aortic arch with cervical origin of the... OMIM:212093
Fixed Subaortic Stenosis
Patent ductus arteriosus, Atrioventricular canal defect, Bacterial endocarditis, Ascending tubula... ORPHA:3092
Hamel Cerebro-Palato-Cardiac Syndrome
Micrognathia, Malar flattening, Microcephaly, Atrial septal defect ORPHA:93946
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Patent ductus arteriosus, Mandibular prognathia, Ascending tubular aorta aneurysm, Truncus arteri... OMIM:612474
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia gliosis, Ventricular septal defect, Basal ganglia necrosis, Periventricular leukoma... ORPHA:79243
Mosaic Variegated Aneuploidy Syndrome 1
Short sternum, Nephroblastoma, Multicystic kidney dysplasia, Cerebellar hypoplasia, Hypodysplasia... OMIM:257300
Intellectual Developmental Disorder, X-Linked 106
Bicuspid aortic valve, Hypospadias, Microcephaly OMIM:300997
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Patent ductus arteriosus, Ventricular hypertrophy, Ventricular septal defect, Cerebellar hypoplas... ORPHA:284169
Fanconi Anemia, Complementation Group I
Patent foramen ovale, Absent thumb, Vesicoureteral reflux, Ventricular septal defect, Short 1st m... OMIM:609053
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Polycystic kidney dysplasia, Cortical tubers, Renal angiomyolipoma OMIM:600273
Pontocerebellar Hypoplasia, Type 17
Patent ductus arteriosus, Cerebellar hemisphere hypoplasia, Hypoplasia of the brainstem, Ventricu... OMIM:619909
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Patent ductus arteriosus, Double outlet right ventricle, Mitral atresia, Coarctation of aorta, Hy... OMIM:618164
X-Linked Intellectual Disability, Nascimento Type
Patent ductus arteriosus, Patent foramen ovale, Double outlet right ventricle, Vesicoureteral ref... ORPHA:163956
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect OMIM:614262
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect OMIM:615981
Ring Chromosome 7 Syndrome
Mandibular prognathia, Short 5th finger, Small hand, Cerebral cortical atrophy, Holoprosencephaly... ORPHA:1449
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Patent ductus arteriosus, Short 5th finger, Ventricular septal defect, Increased urine alpha-keto... OMIM:220500
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve, Horseshoe kidney, Microcephaly OMIM:619318
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Double aortic arch, Pulmonary... OMIM:618780
Charge Syndrome
Patent ductus arteriosus, Vesicoureteral reflux, Aplasia/Hypoplasia of the cerebellum, Aortic arc... ORPHA:138
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Retrognathia, Patent ductus arteriosus, Ventricular septal defect, Hydrocephalus, Lissencephaly, ... OMIM:612938
Pentalogy Of Cantrell
Abnormal pericardium morphology, Encephalocele, Ventricular septal defect, Renal dysplasia, Anenc... ORPHA:1335
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Vesicoureteral reflux, Renal dysplasia, Polycystic kidney dysplasia, Unilateral renal agenesis, A... ORPHA:2237
Criss-Cross Heart
Ventricular septal defect, Abnormal mitral valve morphology, Mitral stenosis, Tricuspid stenosis,... ORPHA:1461
Neurooculocardiogenitourinary Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, ... OMIM:618652
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Ureteral agenesis, Hypoplasia of the brainstem, Renal dysplasia, Cerebellar hypoplasia, Microretr... OMIM:236500
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Thin corpus callosum, Ventricular septal defect OMIM:616277
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Abnormal periventricular white matter morphology, Retinal arteriolar tortuosity, Hematuria, Renal... OMIM:611773
Chromosome 1P36 Deletion Syndrome, Proximal
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Coronary artery fistul... OMIM:619343
Adams-Oliver Syndrome 6
Renal hypoplasia, Foot oligodactyly, Truncus arteriosus, Ventricular septal defect OMIM:616589
Isotretinoin Embryopathy-Like Syndrome
Micrognathia, Hydrocephalus, Conotruncal defect OMIM:243440
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Li-Ghorbani-Weisz-Hubshman Syndrome
Patent ductus arteriosus, Hypoplasia of the corpus callosum, Ventricular septal defect, Atrial se... OMIM:618974
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect OMIM:617044
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Secondary microcephaly, Ventricular septal defect ORPHA:3369
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Arteria lusoria, Patent ductus ar... ORPHA:99050
Combined Oxidative Phosphorylation Deficiency 11
Cerebral cortical atrophy, Renal tubular acidosis, Renal dysplasia, Renal cyst, Hypoplasia of the... OMIM:614922
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Micrognathia, Rhizomelia, Agenesis of corpus callosum, Ventricular septal defect ORPHA:93267
Arima Syndrome
Renal tubular atrophy, Hypoplasia of the brainstem, Agenesis of cerebellar vermis, Stage 5 chroni... OMIM:243910
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Patent ductus arteriosus, Ventricular septal defect OMIM:617021
Cataract 16, Multiple Types
Lenticonus, Posterior polar cataract, Developmental cataract OMIM:613763
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Cerebral cortical atrophy, Ventricular septal defect, Short metacarpal, Micrognathia, Renal cyst,... ORPHA:166035
Truncus Arteriosus
Truncus arteriosus, Aplasia/hypoplasia involving bones of the extremities, Pulmonary artery steno... ORPHA:3384
Cerebrocostomandibular Syndrome
Meningocele, Multicystic kidney dysplasia, Myelomeningocele, Ventricular septal defect, Spina bif... ORPHA:1393
Mosaic Trisomy 9
Patent ductus arteriosus, Hydronephrosis, Ventricular septal defect, Renal dysplasia, Spina bifid... ORPHA:99776
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Patent foramen ovale, Ventricular septal defect, Polymicrogyria, Unilateral renal agenesis, Atria... OMIM:618494
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Retrognathia, Aortic root aneurysm, Abdominal aortic aneurysm, Patent ductus arteriosus, Ischemic... ORPHA:91387
Wolcott-Rallison Syndrome
Double outlet right ventricle, Atrial septal defect, Microcephaly, Renal insufficiency, Chronic k... ORPHA:1667
Burn-Mckeown Syndrome
Mandibular prognathia, Ventricular septal defect, Micrognathia, Unilateral renal agenesis, Atrial... OMIM:608572
Transketolase Deficiency
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Increased level of rib... ORPHA:488618
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Aminoaciduria, Ventricular septal defect, Renal tubular acidosis, Glycosuria, Lissencephaly, Neph... OMIM:613404
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Vesicoureteral reflux, Focal polymicrogyria, Mandibular prognathia, Ventricular septal defect, Re... OMIM:619103
Ritscher-Schinzel Syndrome 2
Patent ductus arteriosus, Ventricular septal defect, Cerebellar hypoplasia, Macrocephaly, Atrial ... OMIM:300963
Townes-Brocks Syndrome 1
Vesicoureteral reflux, Multicystic kidney dysplasia, Ventricular septal defect, Urethral valve, A... OMIM:107480
Filippi Syndrome
Serrated incisors, Ventricular septal defect, Microcephaly OMIM:272440
Tetraamelia Syndrome 2
Hypoplastic pulmonary veins, Ventricular septal defect, Micrognathia, Microretrognathia, Amelia, ... OMIM:618021
Delpire-Mcneill Syndrome
Cortical dysplasia, Ventricular septal defect, Agenesis of corpus callosum OMIM:619083
Timothy Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Tetralog... OMIM:601005
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Renal agenesis, Dilated cardiomyopathy, Pulmonary artery hypoplasi... ORPHA:2326
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722
Holoprosencephaly 2
Cerebellar hypoplasia, Semilobar holoprosencephaly, Single ventricle, Alobar holoprosencephaly, H... OMIM:157170
Holt-Oram Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Absent thumb, Abnormal aortic morphology... ORPHA:392
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Leukoencephalopathy, Bicuspid aortic valve, Atrial septal defect OMIM:617744
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Patent ductus arteriosus, Varicose veins, Peripheral arterial stenosis, Ventricular septal defect OMIM:126320
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Short ribs, Enlarged kidney, Absent tibia, Polycystic kidney dysplasia, Hypoplas... OMIM:613091
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect, Short ribs, Hydrocephalus, Cerebellar vermis hypoplasia, Nephronophthi... OMIM:615630
Cardiomyopathy, Dilated, 1Ii
Cataract OMIM:615184
Noonan Syndrome 9
Pulmonic stenosis, Hydroureter, Ventricular septal defect, Coarctation of aorta OMIM:616559
Joubert Syndrome 16
Renal cyst, Encephalocele, Nephronophthisis, Dandy-Walker malformation OMIM:614465
Emanuel Syndrome
Patent ductus arteriosus, Broad jaw, Truncus arteriosus, Ventricular septal defect, Delayed erupt... ORPHA:96170
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Biliary, Renal, Neurologic, And Skeletal Syndrome
Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Secundum atrial septal d... OMIM:619534
Meckel Syndrome, Type 9
Occipital encephalocele, Limb undergrowth, Multicystic kidney dysplasia OMIM:614209
Feingold Syndrome Type 1
Patent ductus arteriosus, Vesicoureteral reflux, Renal insufficiency, Short middle phalanx of the... ORPHA:391641
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Ventricular septal defect, Micrognathia, Microcephaly, Abdominal s... OMIM:619123
Arachnoid Cyst
Urinary incontinence, Encephalocele, Urinary bladder sphincter dysfunction, Hydrocephalus, Poster... ORPHA:2356
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Cerebellar hypoplasia,... ORPHA:329224
Hydrocephaly-Low Insertion Umbilicus Syndrome
Patent ductus arteriosus, Communicating hydrocephalus, Anomalous pulmonary venous return, Abnorma... ORPHA:2184
Hanac Syndrome
Renal insufficiency, Hematuria, Multiple renal cysts ORPHA:73229
Penoscrotal Transposition
Cerebral cortical atrophy, Patellar aplasia, Renal dysplasia, Micrognathia, Penoscrotal transposi... ORPHA:2842
Isolated Cleft Lip
Supernumerary maxillary incisor, Situs inversus totalis ORPHA:199302
Congenital Alveolar Capillary Dysplasia
Patent ductus arteriosus, Atrioventricular canal defect, Pulmonary valve atresia, Ventricular sep... ORPHA:210122
Methimazole Embryofetopathy
Abnormal aortic morphology, Ventricular septal defect, Hypospadias, Coarctation of aorta ORPHA:1923
Galactose Mutarotase Deficiency
Cataract ORPHA:570422
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia OMIM:211890
Holoprosencephaly 7
Hypoplasia of the brainstem, Hypoplasia of the premaxilla, Hydrocephalus, Semilobar holoprosencep... OMIM:610828
Serkal Syndrome
Hypoplasia of the bladder, Ventricular septal defect, Renal agenesis, Hypospadias, Pulmonic steno... ORPHA:139466
Aase-Smith Syndrome I
Hydrocephalus, Ventricular septal defect, Dandy-Walker malformation OMIM:147800
8P23.1 Microdeletion Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Abnormal car... ORPHA:251071
Sifrim-Hitz-Weiss Syndrome
Patent ductus arteriosus, Vesicoureteral reflux, Short femoral neck, Ventricular septal defect, M... OMIM:617159
Lissencephaly 9 With Complex Brainstem Malformation
Cerebellar hemisphere hypoplasia, Hypoplasia of the brainstem, Ventricular septal defect, Hypopla... OMIM:618325
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology, Abnormal tricuspid valve morphology, Ventricular septal defect ORPHA:3405
Retinitis Pigmentosa 84
Cataract OMIM:618220
Dysosteosclerosis
Ventricular septal defect, Delayed eruption of teeth, Macrocephaly, Craniofacial hyperostosis, Ce... ORPHA:1782
Solitary Median Maxillary Central Incisor
Holoprosencephaly, Microcephaly OMIM:147250
Distal Trisomy 5Q
Absent thumb, Ventricular septal defect, Hypoplasia of the radius, Micrognathia, Hypoplasia of th... ORPHA:96097
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Retrognathia, Perimembranous ventricular septal defect, Micrognathia, Diffuse cerebral atrophy, M... ORPHA:83617
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Vesicoureteral reflux, Spinal dysraphism, Absence of the sacrum, Mitral stenosis, Atrial septal d... OMIM:617660
Severe X-Linked Intellectual Disability, Gustavson Type
Vesicoureteral reflux, Ventricular septal defect, Cerebellar hypoplasia, Micrognathia, Microcepha... ORPHA:3078
Chromosome 15Q14 Deletion Syndrome
Ventricular septal defect, Atrial septal defect OMIM:616898
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Ventricular septal defect, Short metacarpal, Micrognathia, Macrocephaly, Renal cyst, Horseshoe ki... OMIM:250410
Down Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Patent foramen ovale, Double outlet righ... OMIM:190685
Lessel-Kreienkamp Syndrome
Patent ductus arteriosus, Dental malocclusion, Patent foramen ovale, Bicuspid aortic valve, Atria... OMIM:619149
Mosaic Trisomy 1
Penile hypospadias, Renal cortical cysts, Ventricular septal defect, Cerebellar hypoplasia, Macro... ORPHA:1692
Blindness-Scoliosis-Arachnodactyly Syndrome
Lens subluxation, Cataract, Microphakia ORPHA:171844
15q26 overgrowth syndrome
Vesicoureteral reflux, Mandibular prognathia, Micrognathia, Polycystic kidney dysplasia, Abnormal... DECIPHER:81
Mandibulofacial Dysostosis With Alopecia
Delayed eruption of primary teeth, Micrognathia, Bicuspid aortic valve, Hydroureter, Hypoplasia o... OMIM:616367
Thoraco-Abdominal Enteric Duplication
Meningocele, Missing ribs, Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Holoprosencephaly 3
Malar flattening, Holoprosencephaly, Microcephaly, Hydronephrosis OMIM:142945
Baraitser-Winter Syndrome 1
Retrognathia, Patent ductus arteriosus, Bicuspid aortic valve, Lissencephaly, Microcephaly, Pachy... OMIM:243310
Fanconi Anemia, Complementation Group B
Patent ductus arteriosus, Absent thumb, Ventricular septal defect, Bilateral radial aplasia, Cere... OMIM:300514
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr... OMIM:618270
Peroxisome Biogenesis Disorder 11B
Cataract OMIM:614885
Isolated Polycystic Liver Disease
Vascular dilatation, Multiple renal cysts ORPHA:2924
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst, Pachygyria OMIM:614870
Roberts-Sc Phocomelia Syndrome
Absent thumb, Micrognathia, Tetraphocomelia, Long penis, Phocomelia, Ventricular septal defect, P... OMIM:268300
Epidermal Nevus Syndrome
Polycystic kidney dysplasia, Aortic aneurysm ORPHA:35125
Congenital Rubella Syndrome
Patent ductus arteriosus, Ventricular septal defect, Abnormality of the pulmonary artery, Atrial ... ORPHA:290
Congenital Megacalycosis
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... ORPHA:93109
Brachydactyly, Type B1
Hypoplastic sacrum, Ventricular septal defect, Delayed eruption of permanent teeth, Aplasia/Hypop... OMIM:113000
Cat Eye Syndrome
Patent ductus arteriosus, Vesicoureteral reflux, Ventricular septal defect, Micrognathia, Renal a... OMIM:115470
Developmental And Epileptic Encephalopathy 66
Macrodontia of permanent maxillary central incisor, Ventricular septal defect, Atrial septal defe... OMIM:618067
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
11 pairs of ribs, Short foot, Ventricular septal defect, Micrognathia, Short distal phalanx of th... OMIM:620073
Holoprosencephaly 9
Dental malocclusion, Agenesis of incisor, Hypoplasia of the premaxilla, Abnormal cortical gyratio... OMIM:610829
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Short ribs, Cerebellar hypoplasia, Micrognathia, Short femur, Hypertro... OMIM:616897
Seckel Syndrome 9
Ventricular septal defect, Recurrent urinary tract infections, Simplified gyral pattern, Microgna... OMIM:616777
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Anomalous origin of ri... OMIM:610338
Stickler Syndrome, Type V
Cataract OMIM:614284
Carpenter Syndrome 1
Patent ductus arteriosus, Aplasia/Hypoplasia of the middle phalanges of the toes, Aplasia/Hypopla... OMIM:201000
Inverted Duplicated Chromosome 15 Syndrome
Unilateral renal agenesis, Tetralogy of Fallot, Ventricular septal defect, Microcephaly ORPHA:3306
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Vascular dilatation, Renal cyst, Nephropathy, Focal segmental glomerulosclerosis, Chronic kidney ... OMIM:617056
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Conotruncal defect, Micrognathia, Aplasia/hypoplasia involving bon... ORPHA:40366
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Patent ductus arteriosus, Ventricular septal defect, Short ribs, Atrial septal defect, Microcepha... ORPHA:2519
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Renal tubular acidosis, Nephrotic syndrome, Renal cyst, Focal T2 hy... ORPHA:255249
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Patent ductus arteriosus, Leukoencephalopathy, Cerebral cortical atrophy, Ventricular septal defe... OMIM:620024
Weiss-Kruszka Syndrome
Ventricular septal defect, Bicuspid aortic valve, Left ventricular hypertrophy, Hypoplasia of the... OMIM:618619
Suleiman-El-Hattab Syndrome
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Microretrognathia, Microce... OMIM:618950
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Ventricular septal defect, Cerebellar hypoplasia, Atrial septal defect, Aplasia/Hypoplasia of the... ORPHA:75389
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Periventricular Nodular Heterotopia 7
Ventricular septal defect, Micrognathia, Microretrognathia, Cortical dysplasia, Hypoplasia of the... OMIM:617201
Acrorenal-Mandibular Syndrome
Hypoplasia of the radius, Micrognathia, Polycystic kidney dysplasia, Missing ribs, Renal agenesis... OMIM:200980
Noonan Syndrome 8
Patent ductus arteriosus, Ventricular septal defect, Relative macrocephaly, Left ventricular hype... OMIM:615355
Atrial Septal Defect 9
Bicuspid aortic valve, Secundum atrial septal defect OMIM:614475
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Retrognathia, Small hand, Ventricular septal defect, Semilobar holoprosencephaly, Atrial septal d... OMIM:301044
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Mandibular prognathia, Bicuspid aortic valve, Macrocephaly, Atrial septal defect, Hypoplastic lef... OMIM:619721
Kapur-Toriello Syndrome
Patent ductus arteriosus, Ventricular septal defect, Hypoplasia of penis, Dysplastic corpus callo... ORPHA:2328
Aortic Aneurysm, Familial Thoracic 12
Aortic root aneurysm, Bicuspid aortic valve, Ascending tubular aorta aneurysm, Ascending aortic d... OMIM:619825
Squalene Synthase Deficiency
Retrognathia, Micrognathia, Bicuspid aortic valve, Optic nerve hypoplasia, Hypospadias, Hypoplasi... OMIM:618156
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Congenital Total Pulmonary Venous Return Anomaly
Patent ductus arteriosus, Double outlet right ventricle, Mitral atresia, Ventricular septal defec... ORPHA:99125
Genitourinary And/Or Brain Malformation Syndrome
Urogenital sinus anomaly, Micrognathia, Macrocephaly, Polymicrogyria, Holoprosencephaly, Hypospad... OMIM:618820
Chronic Atrial And Intestinal Dysrhythmia
Bicuspid aortic valve, Left atrial enlargement, Pulmonic stenosis OMIM:616201
Carpenter Syndrome 2
Retrognathia, Dental malocclusion, Patent ductus arteriosus, Atrial septal defect, Aplasia of the... OMIM:614976
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Cataract, Iris coloboma OMIM:216820
Phace Association
Patent ductus arteriosus, Vascular dilatation, Anomalous branches of internal carotid artery, Ven... OMIM:606519
1Q41Q42 Microdeletion Syndrome
Holoprosencephaly ORPHA:250999
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Patent ductus arteriosus, Restrictive cardiomyopathy, Cerebellar hypoplasia, Hydroureter, Macroce... OMIM:615398
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Dandy-Walker malformation, Renal dysplasia ORPHA:3032
Fanconi Anemia, Complementation Group N
Nephroblastoma, Short thumb, Ventricular septal defect, Microcephaly OMIM:610832
Leigh Syndrome With Leukodystrophy
Hypertrophic cardiomyopathy, Focal T2 hyperintense basal ganglia lesion, Ventricular septal defect ORPHA:255241
Hypomandibular Faciocranial Dysostosis
Patent ductus arteriosus, Micrognathia, Atrial septal defect, Hypoplasia of the maxilla, Malar fl... OMIM:241310
Holoprosencephaly 1
Ethmocephaly, Cerebellar hypoplasia, Alobar holoprosencephaly, Microcephaly, Single ventricle, Mi... OMIM:236100
Cerebellar-Facial-Dental Syndrome
Dental malocclusion, Ascending tubular aorta aneurysm, Hypoplasia of the brainstem, Macrodontia o... ORPHA:444072
Sneddon Syndrome
Bicuspid aortic valve, Stroke, Ischemic stroke, Cerebral hemorrhage OMIM:182410
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Hypoplasia of the radius, Micrognathia, Polycy... ORPHA:3103
Microphthalmia, Syndromic 2
Patent ductus arteriosus, Dental malocclusion, Double outlet right ventricle, Ventricular septal ... OMIM:300166
Frank-Ter Haar Syndrome
Dental malocclusion, Patent foramen ovale, Double outlet right ventricle, Ventricular septal defe... OMIM:249420
Fryns Syndrome
Vesicoureteral reflux, Abnormal aortic morphology, Multicystic kidney dysplasia, Cerebral cortica... ORPHA:2059
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Isolated Klippel-Feil Syndrome
Spina bifida, Renal hypoplasia/aplasia, Ventricular septal defect ORPHA:2345
Thiamine-Responsive Megaloblastic Anemia Syndrome
Stroke, Ventricular septal defect, Atrial septal defect ORPHA:49827
Primary Pulmonary Hypoplasia
Patellar hypoplasia, Micrognathia, Secundum atrial septal defect, Dextrocardia, Ureteral stenosis... ORPHA:2257
Developmental Delay With Or Without Dysmorphic Facies And Autism
Patent ductus arteriosus, Patent foramen ovale, Vesicoureteral reflux, Cerebral cortical atrophy,... OMIM:618454
Pallister-Hall Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Short 4th metacarpal, Ventricular septal... ORPHA:672
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Microretrognathia, Mic... ORPHA:457193
Coronary Arterial Fistula
Patent ductus arteriosus, Patent foramen ovale, Cardiomegaly, Bacterial endocarditis, Vascular di... ORPHA:2041
Mckusick-Kaufman Syndrome
Patent ductus arteriosus, Urogenital sinus anomaly, Multicystic kidney dysplasia, Ventricular sep... ORPHA:2473
Axial Mesodermal Dysplasia Spectrum
Cerebral cortical atrophy, Renal hypoplasia/aplasia, Micrognathia, Missing ribs, Hydrocephalus, R... ORPHA:1834
Trisomy 13
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Abnormality of the ure... ORPHA:3378
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Patent ductus arteriosus, Ventricular septal defect, Macrocephaly, Atrial septal defect, Persiste... OMIM:619769
Congenital Aortic Valve Stenosis
Endocarditis, Aortic valve atresia, Dysplastic aortic valve, Left ventricular hypertrophy, Thorac... ORPHA:3093
Jansen-De Vries Syndrome
Bicuspid aortic valve, Short foot, Small hand, Ventricular septal defect OMIM:617450
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect, Microcephaly OMIM:609654
Schuurs-Hoeijmakers Syndrome
Patent ductus arteriosus, Patent foramen ovale, Abnormal cardiac septum morphology, Cerebellar hy... OMIM:615009
Bardet-Biedl Syndrome 4
Renal cyst, Abnormality of the kidney OMIM:615982
Thoracoabdominal Syndrome
Patent ductus arteriosus, Anencephaly, Hydrocephalus, Ectopia cordis, Renal agenesis, Hypospadias... OMIM:313850
Phaver Syndrome
Myelomeningocele, Ventricular septal defect, Coarctation of aorta, Hypoplastic aortic arch, Pulmo... ORPHA:2876
9Q31.1Q31.3 Microdeletion Syndrome
Mandibular prognathia, Small hand, Bicuspid aortic valve, Dilated cardiomyopathy, Renovascular hy... ORPHA:401923
Johanson-Blizzard Syndrome
Vascular dilatation, Ventricular septal defect, Urethrovaginal fistula, Dilated cardiomyopathy, A... OMIM:243800
Zellweger Syndrome
Multicystic kidney dysplasia, Ventricular septal defect, Micrognathia, Macrocephaly, Polymicrogyr... ORPHA:912
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Patent ductus arteriosus, Micropenis, Ventricular septal defect, Atrial septal defect OMIM:613870
Craniofacioskeletal Syndrome
Patent ductus arteriosus, Short foot, Hypoplastic frontal sinuses, Small hand, Ventricular septal... OMIM:300712
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Bicuspid aortic valve, Abnormal left ventricular outflow tract morphology, ... ORPHA:402075
3-Methylglutaconic Aciduria Type 7
3-Methylglutaconic aciduria, Primary microcephaly, Renal cyst, Cerebral atrophy, Nephrocalcinosis... ORPHA:445038
Isolated Exencephaly
Aplasia/Hypoplasia of the cerebellum, Hypoplasia of the frontal bone, Holoprosencephaly, Abnormal... ORPHA:563612
Short Stature-Micrognathia Syndrome
Retrognathia, Rhizomelia, Ventricular septal defect, Micrognathia, Penoscrotal hypospadias, Micro... OMIM:617164
Pericardial And Diaphragmatic Defect
Patent ductus arteriosus, Mitral stenosis, Bicuspid aortic valve, Partial diaphragmatic absence o... ORPHA:2847
Genitopatellar Syndrome
Multicystic kidney dysplasia, Patellar aplasia, Delayed eruption of teeth, Micrognathia, Atrial s... ORPHA:85201
Cardiofaciocutaneous Syndrome 3
Hypertrophic cardiomyopathy, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect OMIM:615279
Heart And Brain Malformation Syndrome
Global brain atrophy, Ventricular septal defect, Interrupted aortic arch, Microcephaly, Cerebral ... OMIM:616920
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Roifman Syndrome
Short toe, Ventricular septal defect, Short metacarpal, Noncompaction cardiomyopathy, Microcephaly OMIM:616651
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Micrognathia, Pulmonary artery dilatation, Pulmonary artery stenos... OMIM:265380
Kleefstra Syndrome Due To 9Q34 Microdeletion
Vesicoureteral reflux, Cerebral cortical atrophy, Conotruncal defect, Subcortical cerebral atroph... ORPHA:96147
Joubert Syndrome 7
Hypoplasia of the brainstem, Encephalocele, Stage 5 chronic kidney disease, Renal cyst, Abnormal ... OMIM:611560
Pancreatic Agenesis-Holoprosencephaly Syndrome
Hypoplasia of the zygomatic bone, Holoprosencephaly, Semilobar holoprosencephaly, Agenesis of cor... ORPHA:556955
Diamond-Blackfan Anemia 11
Absent thumb, Hypoplasia of the radius, Bicuspid aortic valve, Renal agenesis, Hypoplasia of the ... OMIM:614900
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Mandibular prognathia, Cerebral cortical atrophy, Dilation of Virchow-Robin spaces, Micrognathia,... OMIM:619720
Hartsfield Syndrome
Hypoplasia of the frontal bone, Semilobar holoprosencephaly, Alobar holoprosencephaly, Lobar holo... OMIM:615465
Oligomeganephronia
Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Stage 5 chr... ORPHA:2260
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Patent ductus arteriosus, Renal dysplasia, Mitral stenosis, Coarctation of aorta, Renal cyst, Mic... OMIM:617260
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect, Cerebral atrophy, Microcephaly OMIM:617635
Donnai-Barrow Syndrome
Proteinuria, Aplasia/Hypoplasia of the corpus callosum, Ventricular septal defect, Macrocephaly ORPHA:2143
Diaphanospondylodysostosis
Missing ribs, Myelomeningocele, Multiple renal cysts ORPHA:66637
Loeys-Dietz Syndrome 1
Retrognathia, Aortic root aneurysm, Patent ductus arteriosus, Pulmonary artery aneurysm, Dilatati... OMIM:609192
Chromosome 6Pter-P24 Deletion Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Agenesis of corpus cal... OMIM:612582
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Micrognathia, Abnormal aortic valve morphology, Macrocephaly, Atria... ORPHA:261197
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Pericardial effusion, Thyroid lymphangiectasia, Pericardial lymphangie... OMIM:235510
Coach Syndrome 1
Multiple small medullary renal cysts, Vascular dilatation, Encephalocele, Stage 5 chronic kidney ... OMIM:216360
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Macrocephaly, Atrial s... OMIM:618870
Warsaw Breakage Syndrome
Tetralogy of Fallot, Ventricular septal defect, Microcephaly OMIM:613398
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect OMIM:314320
3P25.3 Microdeletion Syndrome
Patent ductus arteriosus, Mandibular prognathia, Ventricular septal defect, Micrognathia, Atrial ... ORPHA:435638
Thakker-Donnai Syndrome
Ventricular septal defect, Communicating hydrocephalus, Tetralogy of Fallot, Transposition of the... ORPHA:1780
Meckel Syndrome, Type 10
Cerebellar hypoplasia, Anencephaly, Renal cyst, Hypospadias, Occipital encephalocele, Micropenis,... OMIM:614175
Hengel-Maroofian-Schols Syndrome
Bicuspid aortic valve, Thin corpus callosum, Microcephaly, Cerebral atrophy OMIM:619641
Cantu Syndrome
Patent ductus arteriosus, Congenital hypertrophy of left ventricle, Pericardial effusion, Bicuspi... OMIM:239850
Craniofaciofrontodigital Syndrome
Patent ductus arteriosus, Anomalous branches of internal carotid artery, Ventricular septal defec... ORPHA:363705
Cerebrocostomandibular Syndrome
11 pairs of ribs, Patent ductus arteriosus, Ventricular septal defect, Micrognathia, Porencephali... OMIM:117650
Insulin-Like Growth Factor I, Resistance To
Retrognathia, Patent foramen ovale, Small hand, Ventricular septal defect, Micrognathia, Short fi... OMIM:270450
Czeizel-Losonci Syndrome
Ureteral agenesis, Myelomeningocele, Congenital megaureter, Spina bifida, Micrognathia, Hydroceph... ORPHA:2437
15Q14 Microdeletion Syndrome
Biparietal narrowing, Ventricular septal defect, Atrial septal defect, Microcephaly ORPHA:261190
Cardiac Valvular Dysplasia, X-Linked
Short chordae tendineae of the mitral valve, Bicuspid aortic valve, Mitral valve prolapse, Short ... OMIM:314400
Neurodevelopmental Disorder With Language Delay And Seizures
Thin corpus callosum, Ventricular septal defect, Diffuse cerebral atrophy OMIM:619908
Rere-Related Neurodevelopmental Syndrome
Vesicoureteral reflux, Ventricular septal defect, Micrognathia, Hypospadias, Abnormal heart morph... ORPHA:494344
Hand-Foot-Genital Syndrome
Vesicoureteral reflux, Short first metatarsal, Short 1st metacarpal, Ventricular septal defect, R... ORPHA:2438
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Ventricular septal defect, Renal hypoplasia/aplasia, Biparietal narrowing, Abnormality of the ure... ORPHA:1770
Kagami-Ogata Syndrome
Retrognathia, Patent ductus arteriosus, Ventricular septal defect, Micrognathia, Atrial septal de... OMIM:608149
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Retrognathia, Patent ductus arteriosus, Ventricular septal defect, Macrocephaly, Agenesis of corp... ORPHA:52055
Basel-Vanagaite-Smirin-Yosef Syndrome
Retrognathia, Ventricular septal defect, Cavum septum pellucidum, Atrial septal defect, Hypospadi... OMIM:616449
Cahmr Syndrome
Lamellar cataract OMIM:211770
Adams-Oliver Syndrome 1
Encephalocele, Ventricular septal defect, Bicuspid aortic valve, Periventricular leukomalacia, At... OMIM:100300
Woolly Hair
Abnormal pupil morphology, Cataract ORPHA:170
Trichothiodystrophy 4, Nonphotosensitive
Retrognathia, Cerebral cortical atrophy, Ventricular septal defect, Partial agenesis of the corpu... OMIM:234050
Giant Cell Arteritis
Abdominal aortic aneurysm, Hematuria, Pericarditis, Aortic dissection, Renal insufficiency, Doubl... ORPHA:397
Stiff Skin Syndrome
Bicuspid aortic valve OMIM:184900
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Micrognathia, Hydrocephalus, Coarctation of aorta, Ectopic kidney, Sho... ORPHA:268249
Peroxisome Biogenesis Disorder 11A (Zellweger)
Renal cyst, Multiple renal cysts, Lissencephaly, Polymicrogyria OMIM:614883
Vacterl/Vater Association
Multicystic kidney dysplasia, Abnormal cardiac septum morphology, Anencephaly, Renal agenesis, Hy... ORPHA:887
Mandibulofacial Dysostosis, Guion-Almeida Type
Ventricular septal defect, Micrognathia, Atrial septal defect, Progressive microcephaly, Microcep... OMIM:610536
Char Syndrome
Patent ductus arteriosus, Ventricular septal defect, Short middle phalanx of the 5th finger, No p... ORPHA:46627
Noonan Syndrome 2
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal coronary artery origin, Ventric... OMIM:605275
Morning Glory Disc Anomaly
Cataract ORPHA:35737
Monosomy 13Q14
Aplasia/Hypoplasia of the thumb, Micrognathia, Holoprosencephaly, Microcephaly, Hypoplasia of the... ORPHA:1587
C Syndrome
Patent ductus arteriosus, Renal cortical cysts, Ventricular septal defect, Short metacarpal, Micr... OMIM:211750
Pelger-Huet Anomaly
Upper limb undergrowth, Short 4th metacarpal, Ventricular septal defect, Short 5th metacarpal, Ma... OMIM:169400
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Short sternum, Patent foramen ovale, Retrognathia, Patent ductus arteriosus, Ventricular septal d... OMIM:620113
Noonan Syndrome 4
Dental malocclusion, Hydronephrosis, Ventricular septal defect, Macrocephaly, Atrial septal defec... OMIM:610733
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Diamond-Blackfan Anemia 7
Patent ductus arteriosus, Vesicoureteral reflux, Ventricular septal defect, Secundum atrial septa... OMIM:612562
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Velocardiofacial Syndrome
Retrognathia, Ventricular septal defect, Interrupted aortic arch, Double aortic arch, Microcephal... OMIM:192430
Khan-Khan-Katsanis Syndrome
Vesicoureteral reflux, Patent foramen ovale, Bilateral superior vena cava with no bridging vein, ... OMIM:618460
Pontocerebellar Hypoplasia, Type 8
Patent foramen ovale, Hypoplasia of the brainstem, Reduced cerebral white matter volume, Ventricu... OMIM:614961
Lateral Meningocele Syndrome
Meningocele, Patent ductus arteriosus, Ventricular septal defect, Neurogenic bladder, Bicuspid ao... OMIM:130720
Codas Syndrome
Ventricular septal defect, Short metacarpal, Delayed eruption of teeth, Hydroureter, Abnormal den... ORPHA:1458
Cardiac Valvular Dysplasia 2
Subvalvular aortic stenosis, Ascending tubular aorta aneurysm, Dysplastic aortic valve, Bicuspid ... OMIM:620067
Keutel Syndrome
Short distal phalanx of finger, Recurrent sinusitis, Pulmonary artery stenosis, Ventricular septa... ORPHA:85202
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Microtia-Anotia
Holoprosencephaly OMIM:600674
Chromosome 18Q Deletion Syndrome
Patent ductus arteriosus, Mandibular prognathia, Absence of the pulmonary valve, Ventricular sept... OMIM:601808
Tatton-Brown-Rahman Syndrome
Encephalomalacia, Vesicoureteral reflux, Ventricular septal defect, Macrocephaly, Atrial septal d... OMIM:615879
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Patent ductus arteriosus, Short 5th finger, Small hand, Ventricular septal defect, Primary microc... OMIM:610759
Acrofacial Dysostosis 1, Nager Type
Hypoplasia of first ribs, Short toe, Absent thumb, Aplasia/Hypoplasia of the thumb, Retrognathia,... OMIM:154400
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Retrognathia, Ventricular septal defect, Atrial septal defect, Microcephaly, Hypoplasia of the co... OMIM:617452
Alagille Syndrome
Ventricular septal defect, Nephrotic syndrome, Renal hypoplasia/aplasia, Micrognathia, Atrial sep... ORPHA:52
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Retinitis Pigmentosa 89
Bicuspid aortic valve OMIM:618955
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Corneal scarring, Cataract, Iris coloboma, Buphthalmos OMIM:212550
Desbuquois Syndrome
Small hand, Ventricular septal defect ORPHA:1425
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Ascending tubular aorta aneurysm, Ventricular septal defect, Micrognathia, Macrocephaly, Atrial s... OMIM:309520
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Semilobar holoprosencephaly, Lobar holoprosencephaly, Microcephaly, Hypoplasia of the corpus call... OMIM:618500
Robinow Syndrome
Marked delay in eruption of permanent teeth, Micrognathia, Mesomelic arm shortening, Multicystic ... ORPHA:97360
Tyshchenko Syndrome
Hypoplasia of the corpus callosum, Pulmonic stenosis, Ventricular septal defect, Atrial septal de... OMIM:615102
Thrombocytopenia-Absent Radius Syndrome
Atrioventricular canal defect, Absent thumb, Micrognathia, Phocomelia, Aplasia/hypoplasia of the ... OMIM:274000
Woods Syndrome
Ventricular septal defect OMIM:615236
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect, Short ribs, Hypoplasia of the radius, Relative macrocephaly, Micromelia OMIM:617895
Cerebellofaciodental Syndrome
Dental malocclusion, Macrodontia of permanent maxillary central incisor, Ventricular septal defec... OMIM:616202
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Global brain atrophy, Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid ... OMIM:620066
Nabais Sa-De Vries Syndrome, Type 2
Hypoplastic left heart, Micrognathia, Multicystic kidney dysplasia OMIM:618829
Contractural Arachnodactyly, Congenital
Aortic root aneurysm, Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve,... OMIM:121050
Total Anomalous Pulmonary Venous Return 1
Dextrocardia, Total anomalous pulmonary venous return OMIM:106700
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Patent ductus arteriosus, Short toe, Cerebral cortical atrophy, Ventricular septal defect, Unilat... ORPHA:464311
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Retrognathia, Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus callosum, Ventricular s... ORPHA:505237
Beck-Fahrner Syndrome
Ventricular septal defect, Periventricular leukomalacia, Macrocephaly, Microcephaly, Cardiomegaly OMIM:618798
Norrie Disease
Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior chamber, Cataract, Corneal opac... OMIM:310600
Loeys-Dietz Syndrome 4
Retrognathia, Aortic tortuosity, Aortic root aneurysm, Ascending tubular aorta aneurysm, Bicuspid... OMIM:614816
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Aplastic clavicle, Truncus arteriosus, Crossed fused renal ectopia,... ORPHA:2538
Dyrk1A-Related Intellectual Disability Syndrome
Patent ductus arteriosus, Cerebral cortical atrophy, Hypoplasia of the brainstem, Ventricular sep... ORPHA:464306
Loeys-Dietz Syndrome 2
Ascending tubular aorta aneurysm, Aortic arch aneurysm, Micrognathia, Ascending aortic dissection... OMIM:610168
Cardiac-Urogenital Syndrome
Patent ductus arteriosus, Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlar... OMIM:618280
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Retrognathia, Patent ductus arteriosus, Ventricular septal defect, Micrognathia, Atrial septal de... OMIM:617061
Koolen-De Vries Syndrome
Vesicoureteral reflux, Hydronephrosis, Renal duplication, Aplasia/Hypoplasia of the corpus callos... ORPHA:96169
Acrocardiofacial Syndrome
Cerebral cortical atrophy, Truncus arteriosus, Ventricular septal defect, Mitral stenosis, Hypopl... ORPHA:2008
19P13.3 Microduplication Syndrome
Micrognathia, Ventricular septal defect, Cerebral atrophy, Microcephaly ORPHA:447980
Microtia
Holoprosencephaly ORPHA:83463
Autosomal Recessive Polycystic Kidney Disease
Pancreatic cysts, Recurrent urinary tract infections, Acute kidney injury, Micrognathia, Enlarged... ORPHA:731
Mosaic Variegated Aneuploidy Syndrome 2
Subvalvular aortic stenosis, Rhizomelia, Ventricular septal defect, Micrognathia, Atrial septal d... OMIM:614114
Trisomy X
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3375
Opitz Gbbb Syndrome
Aortic root aneurysm, Patent foramen ovale, Patent ductus arteriosus, Vesicoureteral reflux, Vent... ORPHA:2745
Rhyns Syndrome
Nephronophthisis, Multicystic kidney dysplasia ORPHA:140976
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Vesicoureteral reflux, Renal dysplasia, Hydroureter, Renal agenesis, Semilobar holoprosencephaly,... OMIM:129900
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Patent ductus arteriosus, Micrognathia, Mitral valve prolapse, Bicuspid aortic valve, Hypoplasia ... ORPHA:555877
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Mandibular prognathia, Ventricular septal defect, Dilation of Virchow-Robin spaces, Cerebellar hy... OMIM:300998
Renal Dysplasia
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... ORPHA:93108
Duane-Radial Ray Syndrome
Vesicoureteral reflux, Absent thumb, Vascular dilatation, Crossed fused renal ectopia, Ventricula... OMIM:607323
Diamond-Blackfan Anemia 10
Patent ductus arteriosus, Renal duplication, Ventricular septal defect, Micrognathia, Ectopic kid... OMIM:613309
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Retrognathia, Multicystic kidney dysplasia, Cerebral calcification, Microcephaly, Short palm, Fet... ORPHA:73246
Donnai-Barrow Syndrome
Short sternum, Non-acidotic proximal tubulopathy, Aplasia/Hypoplasia of the corpus callosum, Vent... OMIM:222448
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Polycystic kidney dysplasia, Renal cyst OMIM:610199
Viss Syndrome
Aortic tortuosity, Ascending tubular aorta aneurysm, Micrognathia, Carotid artery dilatation, Aor... OMIM:619472
Holt-Oram Syndrome
Patent ductus arteriosus, Absent thumb, Ventricular septal defect, Hypoplasia of the radius, Secu... OMIM:142900
Thauvin-Robinet-Faivre Syndrome
Nephroblastoma, Bifid ureter, Ventricular septal defect, Renal dysplasia, Renal malrotation, Mitr... OMIM:617107
Renal Agenesis
Ureteral agenesis, Renal insufficiency, Ventricular septal defect, Bilateral renal agenesis, Rena... ORPHA:411709
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Patent ductus arteriosus, Global brain atrophy, Restrictive cardiomyopathy, Upper limb undergrowt... ORPHA:369837
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Short tibia, Patent ductus arteriosus, Encephalocele, Rhizomelia, Natal tooth, Short ribs, Cerebe... OMIM:616300
Cornelia De Lange Syndrome 1
Short sternum, Vesicoureteral reflux, Ventricular septal defect, Delayed eruption of teeth, Hypop... OMIM:122470
Recombinant 8 Syndrome
Patent ductus arteriosus, Patellar aplasia, Ventricular septal defect, Micrognathia, Abnormality ... ORPHA:96167
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Patent ductus arteriosus, Short 5th finger, Ventricular septal defect, Cerebellar hypoplasia, Int... ORPHA:163979
Diamond-Blackfan Anemia 5
Hypospadias, Ventricular septal defect OMIM:612528
Intellectual Developmental Disorder, Autosomal Dominant 66
Aortic root aneurysm, Secundum atrial septal defect, Transposition of the great arteries, Cerebra... OMIM:619910
Teebi Hypertelorism Syndrome 1
Aortic root aneurysm, Small hand, Natal tooth, Ventricular septal defect, Micrognathia, Atrial se... OMIM:145420
Tuberous Sclerosis 1
Dental enamel pits, Hemimegalencephaly, Renal angiomyolipoma, Cardiac rhabdomyoma, Renal cell car... OMIM:191100
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Patent ductus arteriosus, Ventricular septal defect, Coarctation of aorta, Hypospadias, Absent pu... OMIM:600460
Sotos Syndrome
Patent ductus arteriosus, Mandibular prognathia, Ventricular septal defect, Advanced eruption of ... OMIM:117550
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Patent ductus arteriosus, Vesicoureteral reflux, Patent foramen ovale, Ventricular septal defect,... OMIM:616975
Mosaic Trisomy 16
Patent ductus arteriosus, Ventricular septal defect, Short forearm, Short femoral neck, Craniofac... ORPHA:1708
Kapur-Toriello Syndrome
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Pachygyria, Abnormalit... OMIM:244300
Grange Syndrome
Carotid artery stenosis, Coronary artery stenosis, Bicuspid aortic valve, Renovascular hypertensi... OMIM:602531
Osteopathia Striata With Cranial Sclerosis
Paranasal sinus hypoplasia, Dental malocclusion, Patent ductus arteriosus, Multicystic kidney dys... OMIM:300373
19Q13.11 Microdeletion Syndrome
Retrognathia, Hypospadias, Ventricular septal defect, Microcephaly ORPHA:217346
Ogden Syndrome
Cerebral atrophy, Pulmonary artery stenosis, Ventricular septal defect, Microretrognathia ORPHA:276432
Diamond-Blackfan Anemia 1
11 pairs of ribs, Retrognathia, Absent thumb, Ventricular septal defect, Hypoplasia of the radius... OMIM:105650
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Leukocoria, Posterior synechiae of the anterior chamber, Microcornea, Buphthalmos, Iris coloboma,... OMIM:221900
Noonan Syndrome 10
Patent ductus arteriosus, Ventricular septal defect, Mitral stenosis, Mitral valve prolapse, Rela... OMIM:616564
Intellectual Developmental Disorder, Autosomal Dominant 53
Ventricular septal defect, Hyperintensity of cerebral white matter on MRI, Thick corpus callosum,... OMIM:617798
Costello Syndrome
Cerebral cortical atrophy, Ventricular septal defect, Mitral valve prolapse, Macrocephaly, Hypert... ORPHA:3071
Myopathy With Extrapyramidal Signs
Encephalomalacia, Perisylvian polymicrogyria, Ventricular septal defect, Hypoplastic anterior lim... OMIM:615673
Bohring-Opitz Syndrome
Retrognathia, Short toe, Vesicoureteral reflux, Hypoplasia of the brainstem, Mesomelic/rhizomelic... OMIM:605039
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Patent ductus arteriosus, Double outlet right ventricle, Pulmonic stenosis, Atrial septal defect OMIM:618223
Coffin-Siris Syndrome 7
Bicuspid aortic valve, Patent foramen ovale, Ventricular septal defect OMIM:618027
Cooper-Jabs Syndrome
Malar flattening, Missing ribs, Ventricular septal defect ORPHA:1488
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Retrognathia, Patent ductus arteriosus, Ventricular septal defect, Macrocephaly, Agenesis of corp... OMIM:300472
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Macrocephaly, Atrial sept... ORPHA:457279
19P13.12 Microdeletion Syndrome
Ventricular septal defect, Atrial septal defect, Aplasia/Hypoplasia of the cerebellar vermis, Hyp... ORPHA:254346
Aortic Aneurysm, Familial Thoracic 10
Aortic root aneurysm, Abdominal aortic aneurysm, Aortic arch aneurysm, Bicuspid aortic valve, Cor... OMIM:617168
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Broad jaw, Micrognathia, Bicuspid aortic valve, Abnormal cerebral white matter morphology, Hypopl... OMIM:614501
Ulbright-Hodes Syndrome
Short sternum, Short metacarpal, Short ribs, Hypoplasia of the radius, Micrognathia, Polycystic k... ORPHA:3404
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Dextrotransposition of the great arteries, Ventricular septal defect OMIM:619995
Basel-Vanagaite-Smirin-Yosef Syndrome
Retrognathia, Mandibular prognathia, Ventricular septal defect, Cavum septum pellucidum, Left sup... ORPHA:464738
2Q37 Microdeletion Syndrome
Nephroblastoma, Abnormal aortic morphology, Multicystic kidney dysplasia, Small hand, Short foot,... ORPHA:1001
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Patent ductus arteriosus, Patent foramen ovale, Mild microcephaly, Ventricular septal defect, Hyp... ORPHA:2255
Congenital Disorder Of Glycosylation, Type Ia
Proximal tubulopathy, Nephrotic syndrome, Pericardial effusion, Cerebellar hypoplasia, Cerebellar... OMIM:212065
Medullary cystic kidney disease 2
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Stage ... OMIM:603860
Tetrasomy 9P
Abnormal cardiac septum morphology, Renal dysplasia, Micrognathia, Lissencephaly, Pericarditis, A... ORPHA:3310
Joubert Syndrome 35
Hydronephrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections, Renal fibrosis,... OMIM:618161
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Patent foramen ovale, Ventricular septal defect, Left ventricular hypertrophy, Biventricular hype... OMIM:615474
Congenital Heart Defects And Skeletal Malformations Syndrome
Aortic root aneurysm, Narrow maxilla, Ventricular septal defect, Atrial septal defect, Coarctatio... OMIM:617602
Meckel Syndrome, Type 2
Meningocele, Encephalocele, Anencephaly, Renal cyst, Dandy-Walker malformation OMIM:603194
Chime Syndrome
Pulmonary valve atresia, Cerebral cortical atrophy, Aplastic clavicle, Ventricular septal defect,... ORPHA:3474
Chromosome 15Q25 Deletion Syndrome
Dilatation of renal calices, Ventricular septal defect, Abnormal cardiac septum morphology, Coron... OMIM:614294
Hajdu-Cheney Syndrome
Patent ductus arteriosus, Short toe, Abnormal mandible morphology, Ventricular septal defect, Mit... ORPHA:955
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm, Ventricular septal defect, Atrial septal defect OMIM:301039
Transaldolase Deficiency
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, ... OMIM:606003
Diaphragmatic Hernia 4, With Cardiovascular Defects
11 pairs of ribs, Aortic root aneurysm, Aortopulmonary window, Ventricular septal defect, Microgn... OMIM:620025
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Ventricular septal defect, Thyroid lymphangiectasia, Micrognathia, Pulmonary lymphangiectasia, Pa... OMIM:235255
Alzahrani-Kuwahara Syndrome
Patent foramen ovale, Coronary sinus enlargement, Ventricular septal defect, Micrognathia, Atrial... OMIM:619268
X Small Rings
Aortic root aneurysm, Upper limb undergrowth, Ventricular septal defect, Mitral stenosis, Bicuspi... ORPHA:96201
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Patent foramen ovale, Abnormal heart morphology, Mandibular prognathia, Ventricular septal defect ORPHA:369891
Papillorenal Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Renal malrot... OMIM:120330
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Multicystic kidney dysplasia, Renal cyst, Biparietal narrowing ORPHA:2031
Radio-Tartaglia Syndrome
Retrognathia, Ventricular septal defect, Micrognathia, Microcephaly, Agenesis of corpus callosum OMIM:619312
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Patent foramen ovale, Vesicoureteral reflux, Hypoplasia of the bladder, Crossed fused renal ectop... OMIM:300707
Chromosome 17Q12 Deletion Syndrome
Retrognathia, Ovarian cyst, Mandibular prognathia, Upper limb undergrowth, Short foot, Hypoplasia... OMIM:614527
Peroxisome Biogenesis Disorder 1A (Zellweger)
Patent ductus arteriosus, Aminoaciduria, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cor... OMIM:214100
Koolen-De Vries Syndrome
Aortic root aneurysm, Patent ductus arteriosus, Vesicoureteral reflux, Ventricular septal defect,... OMIM:610443
7Q11.23 Microduplication Syndrome
Retrognathia, Dental malocclusion, Patent ductus arteriosus, Enuresis, Ventricular septal defect,... ORPHA:96121
Goldberg-Shprintzen Syndrome
Vesicoureteral reflux, Hypoplasia of the brainstem, Small hand, Ventricular septal defect, Hypopl... OMIM:609460
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Multicystic kidney dysplasia, Dandy-Walker malformation OMIM:607361
Aniridia 1
Corneal erosion, Hypoplasia of the iris, Corneal neovascularization, Anterior subcapsular catarac... OMIM:106210
Ifap Syndrome 2
Keratitis, Cataract, Keratoconjunctivitis sicca OMIM:619016
Orofaciodigital Syndrome V
Ventricular septal defect, Horseshoe kidney, Microcephaly, Tetralogy of Fallot, Agenesis of corpu... OMIM:174300
Chromosome 14Q11-Q22 Deletion Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Renal tubular acidosis... OMIM:613457
Orotic Aciduria
Ventricular septal defect, Hematuria, Atrial septal defect, Oroticaciduria, Orotic acid crystalluria OMIM:258900
Chops Syndrome
Patent ductus arteriosus, Patent foramen ovale, Vesicoureteral reflux, Ventricular septal defect,... OMIM:616368
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Subvalvular aortic stenosis, Ischemic stroke, Delayed eruption of teeth, Ascending aorta hypoplas... OMIM:619503
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Atrioventricular canal defect, Vesicoureteral reflux, Ascending tubular aorta aneurysm, Ventricul... ORPHA:453499
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Small cerebral cortex, Ventricular septal defect, Periventricular leukomalacia, Atrial septal def... OMIM:617360
Alport Syndrome 2, Autosomal Recessive
Cataract, Anterior lenticonus, Corneal erosion OMIM:203780
Robinow Syndrome, Autosomal Dominant 3
Patent ductus arteriosus, Dental malocclusion, Patent foramen ovale, Vesicoureteral reflux, Ventr... OMIM:616894
Caroli Disease
Polycystic kidney dysplasia ORPHA:53035
Focal Dermal Hypoplasia
Patent ductus arteriosus, Hydronephrosis, Multicystic kidney dysplasia, Ventricular septal defect... ORPHA:2092
Van Esch-O'Driscoll Syndrome
Retrognathia, Pulmonary valve atresia, Ventricular septal defect, Atrial septal defect, Spina bif... OMIM:301030
Filippi Syndrome
Ventricular septal defect, Microcephaly ORPHA:3255
Joubert Syndrome 20
Renal cyst OMIM:614970
Fryns Syndrome
Ventricular septal defect, Arrhinencephaly, Renal agenesis, Agenesis of corpus callosum, Atrial s... OMIM:229850
Kohlschutter-Tonz Syndrome-Like
Enamel hypoplasia, Global brain atrophy, Small hand, Ventricular septal defect, Delayed eruption ... OMIM:619229
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Patent ductus arteriosus, Ventricular septal defect, Hypoplasia of the maxilla, Hypospadias, Micr... OMIM:106260
Doors Syndrome
11 pairs of ribs, Double outlet right ventricle, Short 5th finger, Macrodontia of permanent maxil... ORPHA:79500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
11 pairs of ribs, Cerebellar hemisphere hypoplasia, Multicystic kidney dysplasia, Hypoplasia of t... OMIM:615287
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia, Septo-optic dysplasia, Micrognathia, Hydrocephalus, Missing ribs, T... ORPHA:3301
Meckel Syndrome, Type 5
Renal cyst, Occipital encephalocele, Anencephaly OMIM:611561
Fanconi Anemia, Complementation Group C
Absent thumb, Ventricular septal defect, Renal agenesis, Ectopic kidney, Duplicated collecting sy... OMIM:227645
Autosomal Recessive Robinow Syndrome
Abnormal aortic morphology, Multicystic kidney dysplasia, Ventricular septal defect, Micrognathia... ORPHA:1507
Harrod Syndrome
Dental malocclusion, Multicystic kidney dysplasia, Cerebral cortical atrophy, Hypospadias, Microc... ORPHA:2115
Bor Syndrome
Retrognathia, Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Uret... ORPHA:107
Kury-Isidor Syndrome
Ventricular septal defect, Hydronephrosis OMIM:619762
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Ventricular septal defect, Duplicated collecting system, Ureteropelvic junction obstruction, Peri... OMIM:280000
Yunis-Varon Syndrome
Hypoplasia of the frontal lobes, Aplasia of the 1st metacarpal, Absent thumb, Aplasia of the dist... ORPHA:3472
Vater/Vacterl Association
Patent ductus arteriosus, Vesicoureteral reflux, Ventricular septal defect, Renal dysplasia, Hypo... OMIM:192350
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypoplasia of the bladder, Ventricular septal defect, Renal agenesis, Hypospadias, Pulmonary arte... OMIM:611812
Congenital Disorder Of Glycosylation, Type It
Ventricular septal defect, Micrognathia, Dilated cardiomyopathy, Coarctation of aorta, Cardiomega... OMIM:614921
Distal 22Q11.2 Microduplication Syndrome
Patent ductus arteriosus, Mandibular prognathia, Ventricular septal defect, Micrognathia, Hydroce... ORPHA:261337
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Nephroblastoma, Abnormal right ventricle morphology, Bifid ureter, Ventricular septal defect, Mul... ORPHA:500095
Cystic Echinococcosis
Renal cyst, Abnormal heart morphology, Hepatic cysts, Ovarian cyst, Membranous nephropathy ORPHA:400
Opitz Gbbb Syndrome
Vesicoureteral reflux, Ventricular septal defect, Congenital posterior urethral valve, Hypospadia... OMIM:300000
Weill-Marchesani Syndrome 1
Patent ductus arteriosus, Ventricular septal defect, Hypoplasia of the maxilla, Aortic valve sten... OMIM:277600
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Nephrolithiasis, Intracranial hemorrhage, Ventricular septal defect ORPHA:369929
Diaphanospondylodysostosis
Micrognathia, Enlarged kidney, Missing ribs, Cystic renal dysplasia, Nephrogenic rest, Horseshoe ... OMIM:608022
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
11 pairs of ribs, Patent foramen ovale, Aortic root aneurysm, Rhizomelia, Micrognathia, Mitral va... OMIM:245600
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Cataract OMIM:619649
Alagille Syndrome 1
Vesicoureteral reflux, Multiple small medullary renal cysts, Ventricular septal defect, Renal tub... OMIM:118450
Mckusick-Kaufman Syndrome
Hydroureter, Polycystic kidney dysplasia, Vesicovaginal fistula, Hydronephrosis OMIM:236700
Meckel Syndrome, Type 6
Hepatic cysts, Anencephaly, Hydrocephalus, Renal cyst, Horseshoe kidney, Aplasia of the bladder, ... OMIM:612284
Coffin-Siris Syndrome
Patent ductus arteriosus, Short 5th finger, Ventricular septal defect, Delayed eruption of teeth,... ORPHA:1465
Lymphedema-Distichiasis Syndrome
Patent ductus arteriosus, Ventricular septal defect, Micrognathia, Tetralogy of Fallot, Varicose ... OMIM:153400
King-Denborough Syndrome
Ventricular septal defect OMIM:619542
Histiocytoid Cardiomyopathy
Ventricular septal defect, Hydrocephalus, Renal cyst, Stroke-like episode, Polycystic ovaries, Ca... ORPHA:137675
Brachytelephalangic Chondrodysplasia Punctata
Patent ductus arteriosus, Vertebral hypoplasia, Ventricular septal defect, Short distal phalanx o... ORPHA:79345
Renal Hypoplasia, Bilateral
Vesicoureteral reflux, Beta 2-microglobulinuria, Microscopic hematuria, Glycosuria, Renal cyst, D... ORPHA:97362
Jacobsen Syndrome
Short toe, Multicystic kidney dysplasia, Ventricular septal defect, Spina bifida, Missing ribs, M... ORPHA:2308
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Te... OMIM:618748
Teebi-Shaltout Syndrome
Ventricular septal defect, Ureteral stenosis, Horseshoe kidney, Microcephaly, Aortic valve stenos... OMIM:272950
Mosaic Trisomy 20
Retrognathia, Ventricular septal defect, Abnormal mitral valve morphology, Craniofacial asymmetry... ORPHA:1724
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Micrognathia, Biparietal narrowing, Dilated cardiomyopathy, Optic nerv... ORPHA:261250
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Micrognathia, Abnormal heart morphology, Ventricular septal defect ORPHA:404440
Distal Monosomy 19P13.3
Hypoplasia of the maxilla, Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve pr... ORPHA:96129
Lateral Meningocele Syndrome
Meningocele, Ventricular septal defect, Micrognathia, Craniofacial hyperostosis, Malar flattening ORPHA:2789
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Abnormal heart morphology, Ventricular septal defect ORPHA:254534
Robinow Syndrome, Autosomal Recessive 2
Micrognathia, Relative macrocephaly, Bicuspid aortic valve, Mesomelia OMIM:618529
3Q29 Microduplication Syndrome
Macrocephaly, Biparietal narrowing, Ventricular septal defect, Microcephaly ORPHA:251038
Joubert Syndrome 2
Hypoplasia of the brainstem, Encephalocele, Hydrocephalus, Macrocephaly, Renal cyst, Abnormal cor... OMIM:608091
Penile Agenesis
Absent penis, Ventricular septal defect, Bilateral renal agenesis, Urethral fistula, Hydroureter,... ORPHA:49
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Dental malocclusion, Small hand, Ventricular septal defect, Micrognathia, Relative macrocephaly, ... ORPHA:251028
Kawasaki Disease
Ascending tubular aorta aneurysm, Abnormal heart valve morphology, Pericarditis, Sterile pyuria, ... ORPHA:2331
Trisomy 10P
Retrognathia, Short toe, Primary microcephaly, Simplified gyral pattern, Micrognathia, Abnormalit... ORPHA:171929
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Patent foramen ovale, Abnormality of the sphenoid sinus, Ventricular septal defect, Renal hypopla... ORPHA:363700
Coffin-Siris Syndrome 4
Patent ductus arteriosus, Mitral atresia, Short 5th finger, Ventricular septal defect, Short phal... OMIM:614609
Alg9-Cdg
Hypoplasia of the bladder, Rhizomelia, Ventricular septal defect, Pericardial effusion, Micrognat... ORPHA:79328
Tuberous Sclerosis 2
Hemimegalencephaly, Renal angiomyolipoma, Cardiac rhabdomyoma, Renal cell carcinoma, Cerebral cal... OMIM:613254
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Ventricular septal defect, Micrognathia, Pulmonary lymphangiectasia, Pancreatic lymphangiectasis,... ORPHA:1655
Brain-Lung-Thyroid Syndrome
Patent foramen ovale, Vesicoureteral reflux, Ventricular septal defect, Abnormal cardiac septum m... ORPHA:209905
Limb Body Wall Complex
Encephalocele, Ventricular septal defect, Myelomeningocele, Spina bifida, Abnormality of the kidn... ORPHA:2369
Holoprosencephaly 4
Semilobar holoprosencephaly OMIM:142946
Tbck-Related Intellectual Disability Syndrome
11 pairs of ribs, Global brain atrophy, Abnormal periventricular white matter morphology, Mandibu... ORPHA:488632
3Mc Syndrome 1
Patent ductus arteriosus, Short 5th finger, Ventricular septal defect, Atrial septal defect, Spin... OMIM:257920
Radio-Renal Syndrome
Retrognathia, Multicystic kidney dysplasia, Renal dysplasia, Hypoplasia of the radius, Micrognath... ORPHA:3015
Gm1 Gangliosidosis
Patent ductus arteriosus, Encephalomalacia, Mandibular prognathia, Ventricular septal defect, Abn... ORPHA:354
Microphthalmia, Syndromic 3
Patent ductus arteriosus, Vertebral hypoplasia, Ventricular septal defect, Missing ribs, Optic ne... OMIM:206900
Spondylo-Ocular Syndrome
Ventricular septal defect ORPHA:85194
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Pericardial effusion, Hypertrophic cardiomyopathy, Persistent left superior vena cava, Ventricula... OMIM:618775
Renal Coloboma Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia, Renal ins... ORPHA:1475
Congenital Disorder Of Glycosylation, Type Ib
Renal cyst, Lymphangiectasis, Proximal tubulopathy OMIM:602579
Congenital Disorder Of Glycosylation, Type Iia
Retrognathia, Macrocephaly, Ventricular septal defect, Microcephaly OMIM:212066
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormality of the urinary system, Nephrolithiasis, Talon cusp, Vesicoureteral reflux, Ventricula... ORPHA:353281
Kaufman Oculocerebrofacial Syndrome
Ventricular septal defect, Micrognathia, Atrial septal defect, Coarctation of aorta, Microcephaly... OMIM:244450
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Hypoplasia of the brainstem, Ventricular septal defect, Cerebellar hypoplasia, Secondary microcep... OMIM:619306
Simpson-Golabi-Behmel Syndrome, Type 1
Duplication of renal pelvis, Short palm, Short sternum, Nephroblastoma, Ventricular septal defect... OMIM:312870
Codas Syndrome
Enamel hypoplasia, Atrioventricular canal defect, Ventricular septal defect, Short metacarpal, De... OMIM:600373
Birt-Hogg-Dube Syndrome
Renal cell carcinoma, Renal neoplasm, Renal cyst OMIM:135150
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Aortic valve atresia, Mitral atresia, Ketonuria, Simplified gyral pattern, Micrognathia, Bicuspid... OMIM:220111
Feingold Syndrome 1
Patent ductus arteriosus, Short toe, Ventricular septal defect, Micrognathia, Interrupted aortic ... OMIM:164280
Persistent Hyperplastic Primary Vitreous
Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow anterior chamber, Cataract,... ORPHA:91495
Caroli Syndrome
Abnormality of the kidney, Polycystic kidney dysplasia ORPHA:480520
Loeys-Dietz Syndrome 3
Aortic tortuosity, Ventricular hypertrophy, Ascending aortic dissection, Thoracic aortic aneurysm... OMIM:613795
Peters Plus Syndrome
Cerebral cortical atrophy, Abnormal cardiac septum morphology, Micrognathia, Abnormality of the p... ORPHA:709
Cohen Syndrome
Ventricular septal defect, Micrognathia, Mitral valve prolapse, Hypoplasia of the maxilla, Microc... ORPHA:193
Histiocytosis-Lymphadenopathy Plus Syndrome
Retrognathia, Patent ductus arteriosus, Ventricular septal defect, Left superior vena cava draini... OMIM:602782
Congenital Tracheomalacia
Patent ductus arteriosus, Ventricular septal defect, Single ventricle, Atrial septal defect, Doub... ORPHA:95430
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Macrocephaly, Ventricular septal defect, Short ribs OMIM:615503
D-Bifunctional Protein Deficiency
Retrognathia, Micrognathia, Cerebral hypoplasia, Macrocephaly, Cerebral dysmyelination, Renal cys... OMIM:261515
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Aortic root aneurysm, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect, ... OMIM:617506
De Barsy Syndrome
Patent ductus arteriosus, Ventricular septal defect, Delayed eruption of teeth, Progressive micro... ORPHA:2962
Craniofacial Microsomia
Patent ductus arteriosus, Vesicoureteral reflux, Multicystic kidney dysplasia, Vertebral hypoplas... OMIM:164210
Renal Cysts And Diabetes Syndrome
Cerebral cortical atrophy, Stage 5 chronic kidney disease, Abnormality of the kidney, Glycosuria,... OMIM:137920
Distal 22Q11.2 Microdeletion Syndrome
Truncus arteriosus, Ventricular septal defect, Recurrent urinary tract infections, Aortic aneurys... ORPHA:261330
Leigh Syndrome
Encephalomalacia, 3-Methylglutaconic aciduria, Neuronal loss in basal ganglia, Ventricular septal... ORPHA:506
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Carious teeth, Dental malocclusion, Renal cyst, Microretrognathia OMIM:615560
Cranioectodermal Dysplasia 2
Retrognathia, Patent foramen ovale, Patent ductus arteriosus, Rhizomelia, Short ribs, Micrognathi... OMIM:613610
Combined Oxidative Phosphorylation Deficiency 15
Small hand, Ventricular septal defect, Ventricular septal hypertrophy, Abnormal cerebral white ma... OMIM:614947
Oculoauricular Syndrome
Posterior embryotoxon, Posterior synechiae of the anterior chamber, Iris cyst, Ocular anterior se... OMIM:612109
Weill-Marchesani Syndrome 2
Patent ductus arteriosus, Ventricular septal defect, Short metacarpal, Short finger, Ascending ao... OMIM:608328
Hydrolethalus Syndrome 1
Upper limb undergrowth, Ventricular septal defect, Abnormal cortical gyration, Micrognathia, Arrh... OMIM:236680
Joubert Syndrome With Hepatic Defect
Aplasia/Hypoplasia of the cerebellum, Multicystic kidney dysplasia, Renal insufficiency, Aplasia/... ORPHA:1454
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Pulmonic stenosis, Ventricular septal defect OMIM:615508
8Q24.3 Microdeletion Syndrome
Atrioventricular canal defect, Global brain atrophy, Short 5th finger, Truncus arteriosus, Short ... ORPHA:508488
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Pancreatic cysts, Short toe, Rhizomelia, Short femoral neck, Short ribs, Renal dysplasia, Microgn... OMIM:266920
Blackfan-Diamond Anemia
Absent thumb, Ventricular septal defect, Radial artery aplasia, Micrognathia, Renal agenesis, Atr... ORPHA:124
Simpson-Golabi-Behmel Syndrome
Nephroblastoma, Short toe, Hydronephrosis, Mandibular prognathia, Multicystic kidney dysplasia, V... ORPHA:373
Joubert Syndrome 1
Hypoplasia of the brainstem, Macrocephaly, Renal cyst, Nephropathy, Occipital myelomeningocele, M... OMIM:213300
Severe Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Multicystic kidney dysplasia, Urinary retention, Recurrent urinary tract infec... ORPHA:79404
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Patent foramen ovale, Ventricular septal defect, Pericardial effusion, Macrocephaly, Dilated card... ORPHA:26793
Keutel Syndrome
Ventricular septal defect, Shortening of all distal phalanges of the fingers, Chronic sinusitis, ... OMIM:245150
Marshall-Smith Syndrome
Retrognathia, Short sternum, Patent ductus arteriosus, Ventricular septal defect, Cerebellar hypo... OMIM:602535
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Ventricular septal defect, Renal tubular acidosis, Macrocephaly, Hydrocephalus, Peripheral pulmon... OMIM:619575
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Neoplasm of the heart, Hydroureter, Multicystic kidney dysplasia, Megacystis ORPHA:2241
Schinzel-Giedion Syndrome
Retrognathia, Nephroblastoma, Cerebral cortical atrophy, Short 1st metacarpal, Delayed eruption o... ORPHA:798
Myhre Syndrome
Patent ductus arteriosus, Short toe, Mandibular prognathia, Ventricular septal defect, Pericardia... OMIM:139210
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent ductus arteriosus, Patent foramen ovale, Cardiomegaly, Ventricular septal defect, Increase... OMIM:300967
Trisomy 20P
Spina bifida, Micrognathia, Abnormality of the kidney, Abnormality of the ureter, Hypospadias, Mu... ORPHA:261318
Neu-Laxova Syndrome 1
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Primary microcephaly, ... OMIM:256520
1P36 Deletion Syndrome
11 pairs of ribs, Patent ductus arteriosus, Aortic arch aneurysm, Cerebral cortical atrophy, Shor... ORPHA:1606
Oculodentodigital Dysplasia
Aplasia/Hypoplasia of the cerebellum, Mandibular prognathia, Ventricular septal defect, Neurogeni... ORPHA:2710
Koolen-De Vries Syndrome Due To A Point Mutation
Vesicoureteral reflux, Renal duplication, Hydronephrosis, Ventricular septal defect, Recurrent ur... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Vesicoureteral reflux, Renal duplication, Hydronephrosis, Ventricular septal defect, Recurrent ur... ORPHA:363958
Congenital Tracheal Stenosis
Anomalous origin of left pulmonary artery from ascending aorta, Patent ductus arteriosus, Ventric... ORPHA:141127
Enhanced S-Cone Syndrome
Cataract OMIM:268100
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Dental malocclusion, Vesicoureteral reflux, Ventricular septal defect, Bicuspid aortic valve, Aor... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Dental malocclusion, Vesicoureteral reflux, Ventricular septal defect, Bicuspid aortic valve, Aor... ORPHA:352665
Kaposiform Lymphangiomatosis
Pancreatic cysts, Pericardial effusion, Enlarged kidney, Epidural hemorrhage, Multiple renal cyst... ORPHA:464329
2Q31.1 Microdeletion Syndrome
Cerebral cortical atrophy, Short foot, Ventricular septal defect, Micrognathia, Atrial septal def... ORPHA:251014
Cutis Marmorata Telangiectatica Congenita
Patent ductus arteriosus, Multicystic kidney dysplasia, Arteriovenous malformation, Micrognathia,... ORPHA:1556
Zttk Syndrome
Patent ductus arteriosus, Small hand, Ventricular septal defect, Cerebellar hypoplasia, Periventr... OMIM:617140
Noonan Syndrome 3
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Mitral valve prolapse,... OMIM:609942
Chromosome 1P36 Deletion Syndrome, Distal
Cerebral cortical atrophy, Short 5th finger, Polymicrogyria, Aortic root aneurysm, Patent foramen... OMIM:607872
Orofaciodigital Syndrome Type 14
Patent ductus arteriosus, Ventricular septal defect, Open operculum, Supernumerary tooth, Epispad... ORPHA:434179
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Retrognathia, Atrioventricular canal defect, Patent ductus arteriosus, Ventricular septal defect,... ORPHA:3047
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Micrognathia, Abnormal subclavian artery morphology, Abnormal corpus callosum morphology, Abnorma... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Micrognathia, Abnormal subclavian artery morphology, Abnormal corpus callosum morphology, Abnorma... ORPHA:353277
45,X/46,Xy Mixed Gonadal Dysgenesis
Urogenital sinus anomaly, Short 4th metacarpal, Micrognathia, Bicuspid aortic valve, Abnormality ... ORPHA:1772
Loeys-Dietz Syndrome 5
Retrognathia, Patent foramen ovale, Aortic root aneurysm, Ventricular septal defect, Ascending ao... OMIM:615582
Omodysplasia 1
Short tibia, Rhizomelia, Ventricular septal defect, Micrognathia, Atrial septal defect, Hypoplast... OMIM:258315
Trichothiodystrophy
Retrognathia, Enamel hypoplasia, Cerebral cortical atrophy, Ventricular septal defect, Hypoplasia... ORPHA:33364
Bardet-Biedl Syndrome 6
Renal cyst, Hypospadias OMIM:605231
Meier-Gorlin Syndrome 7
Vesicoureteral reflux, Ventricular septal defect, Urethral stricture, Atrial septal defect, Hypos... OMIM:617063
Early Infantile Epileptic Encephalopathy
Ventricular septal defect, Renal dysplasia, Short finger, Diffuse cerebral atrophy, Ureterocele, ... ORPHA:1934
Ulnar-Mammary Syndrome
Ventricular septal defect, Hypoplasia of penis, Renal hypoplasia, Short distal phalanx of finger,... ORPHA:3138
2P15P16.1 Microdeletion Syndrome
Retrognathia, Multicystic kidney dysplasia, Cerebellar hypoplasia, Optic nerve hypoplasia, Microc... ORPHA:261349
Axial Osteomalacia
Renal cyst OMIM:109130
Alveolar Echinococcosis
Abnormal pericardium morphology, Pancreatic cysts, Renal cyst, Abnormality of bladder morphology,... ORPHA:284
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Ventricular septal defect, Relative macrocephaly, Macrocephaly, Atrial septal defect, Hypertrophi... OMIM:607721
Mgat2-Cdg
Patent ductus arteriosus, Ventricular septal defect, Cerebellar hypoplasia, Progressive microceph... ORPHA:79329
Rabson-Mendenhall Syndrome
Mandibular prognathia, Ventricular septal defect, Advanced eruption of teeth, Atrial septal defec... ORPHA:769
Genitopatellar Syndrome
Multicystic kidney dysplasia, Patellar aplasia, Ventricular septal defect, Delayed eruption of te... OMIM:606170
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Cleft mandible, Aplasia of the distal phalanx of the 5th finger, Aplasia of the distal phalanx of... OMIM:608670
Paternal Uniparental Disomy Of Chromosome 6
Retrognathia, Patent ductus arteriosus, Ventricular septal defect, Micrognathia, Cardiomegaly ORPHA:96191
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Mandibular prognathia, Dilatation of the ventricular cavity, Ventricular septal defect, Cerebella... ORPHA:459070
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Urogenital sinus anomaly, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hydroureter, Ap... ORPHA:2973
Specc1L-Related Hypertelorism Syndrome
Patent ductus arteriosus, Short toe, Ventricular septal defect, Advanced eruption of teeth, Atria... ORPHA:1519
Fontaine Progeroid Syndrome
Retrognathia, Patent ductus arteriosus, Mandibular prognathia, Cerebellar hypoplasia, Micrognathi... OMIM:612289
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Retrognathia, Short 5th toe, Hypoplasia of the brainstem, Cerebral cortical atrophy, Ventricular ... ORPHA:268261
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Aortic root aneurysm, Patent foramen ovale, Patent ductus arteriosus, Vesicoureteral reflux, Smal... ORPHA:444077
Lymphangioleiomyomatosis
Renal angiomyolipoma, Hydrocephalus, Chylopericardium, Hematuria, Renal neoplasm, Abnormal urinar... ORPHA:538
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Ventricular septal defect, Microcephaly OMIM:178110
Atelosteogenesis Type I
Rhizomelia, Micrognathia, Short femur, Limb undergrowth, Multiple renal cysts ORPHA:1190
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Mandibular prognathia, Multicystic kidney dysplasia, Acute kidney injury, Renal c... ORPHA:93111
Diets-Jongmans Syndrome
Ventricular septal defect, Thick corpus callosum, Hypospadias, Heterotaxy, Interrupted inferior v... OMIM:618846
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Ventricular septal defect, Atrial septal defect OMIM:610978
Kabuki Syndrome 1
Short 5th finger, Ventricular septal defect, Crossed fused renal ectopia, Micrognathia, Hydroceph... OMIM:147920
Atrioventricular septal defect 3
Atrioventricular canal defect, Primum atrial septal defect, Inlet ventricular septal defect OMIM:600309
Orofaciodigital Syndrome Type 1
Pancreatic cysts, Short toe, Hydronephrosis, Vascular dilatation, Multicystic kidney dysplasia, M... ORPHA:2750
Degcags Syndrome
Abnormal renal cortex morphology, Micrognathia, Patent foramen ovale, Ventricular septal defect, ... OMIM:619488
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Patent ductus arteriosus, Urinary incontinence, Short 5th finger, Ventricular septal defect, Shor... OMIM:619522
Kyphoscoliotic Ehlers-Danlos Syndrome
Antenatal intracerebral hemorrhage, Cerebral hemorrhage, Micrognathia, Bicuspid aortic valve, Aor... ORPHA:536545
Trichohepatoenteric Syndrome 1
Ventricular septal defect, Galactosuria, Hypospadias, Renal cortical microcysts, Tetralogy of Fal... OMIM:222470
Larsen Syndrome
Ventricular septal defect, Short metacarpal, Aortic aneurysm, Atrial septal defect, Spina bifida ... OMIM:150250
Coffin-Siris Syndrome 1
Delayed eruption of teeth, Spina bifida occulta, Aplasia/Hypoplasia of the patella, Short sternum... OMIM:135900
Williams-Beuren Syndrome
Coronary artery stenosis, Retinal arteriolar tortuosity, Peripheral pulmonary artery stenosis, My... OMIM:194050
Costello Syndrome
Lymphangiectasis, Ventricular septal defect, Micrognathia, Mitral valve prolapse, Hydrocephalus, ... OMIM:218040
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Retrognathia, Patent foramen ovale, Patent ductus arteriosus, Vesicoureteral reflux, Ventricular ... ORPHA:438213
Joubert Syndrome 21
Hypoplasia of the brainstem, Renal cyst, Hypoplasia of the corpus callosum, Occipital encephaloce... OMIM:615636
Digeorge Syndrome
Patent ductus arteriosus, Renal insufficiency, Truncus arteriosus, Ventricular septal defect, Ren... OMIM:188400
Townes-Brocks Syndrome
Patent ductus arteriosus, Vesicoureteral reflux, Urethral valve, Abnormal cardiac septum morpholo... ORPHA:857
Campomelia, Cumming Type
Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts, Micromelia ORPHA:1318
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Short ribs, Nephritis, Hypoplasia of the ulna, Renal cyst, Proteinuria, Renal i... OMIM:208500
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Enamel hypoplasia, Ventricular septal defect OMIM:243150
Hardikar Syndrome
Patent ductus arteriosus, Patent foramen ovale, Vesicoureteral reflux, Hypoplasia of the bladder,... OMIM:301068
Combined Pituitary Hormone Deficiencies, Genetic Forms
Septo-optic dysplasia, Optic nerve hypoplasia, Holoprosencephaly, Absent septum pellucidum, Agene... ORPHA:95494
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Ventricular septal defect, Microretrognathia, Microcephaly, Hypoplasia of the corpus callosum, Ag... OMIM:619418
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage, Macrocephaly, Microceph... OMIM:616682
Peters-Plus Syndrome
Micrognathia, Conical incisor, Short palm, Short toe, Ventricular septal defect, Agenesis of maxi... OMIM:261540
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Ventricular septal defect, Cerebellar hypoplasia, Micrognathia, Hyperplasia of the maxilla, Micro... ORPHA:513456
Distal Renal Tubular Acidosis
Aminoaciduria, Proximal tubulopathy, Hypocitraturia, Hypermagnesiuria, Hyperphosphaturia, Renal c... ORPHA:18
Arboleda-Tham Syndrome
Patent ductus arteriosus, Mandibular prognathia, Ventricular septal defect, Recurrent urinary tra... OMIM:616268
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Delayed eruption of teeth, Primary microcephaly, Abnormality of the pulmonary artery, Pulmonary a... ORPHA:261552
Okamoto Syndrome
Urinary incontinence, Ventricular septal defect, Abnormal mitral valve morphology, Abnormal left ... ORPHA:2729
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Subcortical cerebral atrophy, Renal hypoplasia/aplasia, Ureterocele... ORPHA:261265
Trichohepatoneurodevelopmental Syndrome
Patent ductus arteriosus, Ventricular septal defect, Cerebellar hypoplasia, Thin corpus callosum,... OMIM:618268
Marfan Syndrome
Retrognathia, Aortic root aneurysm, Ascending tubular aorta aneurysm, Micrognathia, Mitral valve ... OMIM:154700
Congenital Bile Acid Synthesis Defect Type 2
Renal cyst, Dark urine ORPHA:79303
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Delayed eruption of teeth, Primary microcephaly, Abnormality of the pulmonary artery, Pulmonary a... ORPHA:261537
Cranioectodermal Dysplasia 1
Tubulointerstitial nephritis, Enamel hypoplasia, Short toe, Rhizomelia, Short ribs, Stage 1 chron... OMIM:218330
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Cerebellar hypoplasia, Micrognathia, Optic nerve hypoplasia, Renal cyst, Hypospadias, Hypoplasia ... ORPHA:495875
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Retrognathia, Aortic valve stenosis, Bicuspid aortic valve, Microcephaly OMIM:613563
Peutz-Jeghers Syndrome
Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts, Enlarged polycystic ovaries ORPHA:2869
Pearson Syndrome
Glycosuria, Lacticaciduria, Renal cyst, Abnormal heart morphology, Proteinuria, Microcephaly, Ren... ORPHA:699
Mowat-Wilson Syndrome
Patent ductus arteriosus, Ventricular septal defect, Delayed eruption of teeth, Abnormality of th... OMIM:235730
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Micrognathia, Abnormal dental enamel morphology, Ventricular septal defect, Delayed eruption of t... ORPHA:1071
Hyperparathyroidism-Jaw Tumor Syndrome
Nephroblastoma, Mandibular pain, Renal hamartoma, Renal cyst, Nephrocalcinosis, Renal insufficien... ORPHA:99880
Ulnar-Mammary Syndrome
Short 5th toe, Aplasia of the 5th finger, Aplasia of the 5th metacarpal, Short 5th finger, Ventri... OMIM:181450
Cornelia De Lange Syndrome
Aplasia/Hypoplasia of the cerebellum, Vesicoureteral reflux, Multicystic kidney dysplasia, Cerebr... ORPHA:199
Parathyroid Carcinoma
Nephroblastoma, Mandibular pain, Renal hamartoma, Renal cyst, Nephrocalcinosis, Renal insufficien... ORPHA:143
Cardiospondylocarpofacial Syndrome
Patent foramen ovale, Vesicoureteral reflux, Ventricular septal defect, Atrial septal defect, Dys... OMIM:157800
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Retrognathia, Short tibia, Upper limb undergrowth, Mandibular prognathia, Short femoral neck, Sho... ORPHA:96334
Bardet-Biedl Syndrome
Multicystic kidney dysplasia, Hypoplasia of penis, Nephrotic syndrome ORPHA:110
Hunter-Macdonald Syndrome
Patent ductus arteriosus, Bicuspid aortic valve, Mitral valve prolapse, Hypospadias, Malar flatte... OMIM:611962
Chromosome 16P13.3 Duplication Syndrome
Short toe, Ventricular septal defect, Micrognathia, Periventricular leukomalacia, Atrial septal d... OMIM:613458
Turner Syndrome Due To Structural X Chromosome Anomalies
Retrognathia, Short sternum, Short toe, Aortic arch aneurysm, Short 4th metacarpal, Short 5th met... ORPHA:99413
Mosaic Monosomy X
Retrognathia, Short sternum, Short toe, Aortic arch aneurysm, Short 4th metacarpal, Short 5th met... ORPHA:99228
Monosomy X
Retrognathia, Short sternum, Short toe, Aortic arch aneurysm, Short 4th metacarpal, Short 5th met... ORPHA:99226
Turner Syndrome
Retrognathia, Short sternum, Short toe, Aortic arch aneurysm, Short 4th metacarpal, Short 5th met... ORPHA:881
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Cerebellar hypoplasia,... ORPHA:466791
Mowat-Wilson Syndrome
Abnormal cardiac septum morphology, Delayed eruption of teeth, Pulmonary artery sling, Large basa... ORPHA:2152
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
11 pairs of ribs, Short femoral neck, Short metacarpal, Ventricular septal defect, Micrognathia, ... OMIM:271640
Von Hippel-Lindau Disease
Pancreatic cysts, Elevated urinary catecholamines, Renal cell carcinoma, Epididymal cyst, Multipl... ORPHA:892
Noonan Syndrome 1
Patent ductus arteriosus, Dental malocclusion, Ventricular septal defect, Micrognathia, Atrial se... OMIM:163950
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Rhizomelia, Short femoral neck, Short metacarpal, Delayed eruption of te... OMIM:143095
Frontometaphyseal Dysplasia 2
Patent ductus arteriosus, Patent foramen ovale, Short metacarpal, Neurogenic bladder, Bicuspid ao... OMIM:617137
Esophageal Atresia
Ventricular septal defect, Renal agenesis, Coarctation of aorta, Abnormality of the urinary syste... ORPHA:1199
Wolf-Hirschhorn Syndrome
Periventricular cysts, Ventricular septal defect, Craniofacial asymmetry, Micrognathia, Hydroceph... OMIM:194190
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis ORPHA:1297
Yunis-Varon Syndrome
Hypoplasia of the frontal lobes, Short 2nd finger, Absent thumb, Micrognathia, Hypoplastic facial... OMIM:216340
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Short ribs, Cerebellar hypoplasia, Micrognathia, Agenesis of corpus callosum, Macrocephaly, Ureth... ORPHA:93271
Cutis Laxa, Autosomal Dominant 1
Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:123700
Congenital Disorder Of Glycosylation, Type Iiw
Ventricular septal defect, Moderate albuminuria, Micrognathia, Supernumerary tooth, Membranoproli... OMIM:619525
Mody
Renal cyst, Abnormality of the kidney, Nephropathy, Glycosuria ORPHA:552
Oculocerebrorenal Syndrome Of Lowe
Glomerulopathy, Aminoaciduria, Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Ab... ORPHA:534
Progeroid Short Stature With Pigmented Nevi
Aortic valve stenosis, Hypospadias, Bicuspid aortic valve, Chordee OMIM:176690
Trichorhinophalangeal Syndrome, Type Ii
Vesicoureteral reflux, Mandibular prognathia, Short metacarpal, Micrognathia, Bicuspid aortic val... OMIM:150230
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Multiple renal cysts, Agenesis of corpus callosum OMIM:618733
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst OMIM:614862
Pallister-Killian Syndrome
Delayed eruption of teeth, Renal dysplasia, Micrognathia, Hypertrophic cardiomyopathy, Short palm... OMIM:601803
Sotos Syndrome
Increased head circumference, Congenital posterior urethral valve, No permanent dentition, Vesico... ORPHA:821
Beckwith-Wiedemann Syndrome
Nephroblastoma, Vesicoureteral reflux, Mandibular prognathia, Congenital megaureter, Enlarged kid... ORPHA:116
Familial Adenomatous Polyposis 4
Renal cyst, Ovarian cyst OMIM:617100
Liver Disease, Severe Congenital
Subvalvular aortic stenosis, Patent foramen ovale, Patent ductus arteriosus, Dilatation of the ve... OMIM:619991
Aprosencephaly Syndrome
Hand oligodactyly, Anencephaly, Aprosencephaly OMIM:207770
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Ventricular septal defect, Bicuspid aortic valve, Hydrocephalus, Aortic aneurysm, Hematuria, Macr... OMIM:619475
C Syndrome
Multicystic kidney dysplasia, Aplasia/Hypoplasia of the corpus callosum, Renal hypoplasia/aplasia... ORPHA:1308
Aprosencephaly And Cerebellar Dysgenesis
Micrognathia, Aprosencephaly OMIM:601374
Eisenmenger Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Bacterial endocarditis, Renal insufficie... ORPHA:97214
Msh3-Related Attenuated Familial Adenomatous Polyposis
Renal cyst, Ovarian dermoid cyst ORPHA:480536
Spondylocarpotarsal Synostosis Syndrome
Enamel hypoplasia, Short metacarpal, Hypoplasia of the odontoid process, Failure of eruption of p... OMIM:272460
Craniotubular Dysplasia, Ikegawa Type
Macrocephaly, Short palm, Ventricular septal defect OMIM:619727
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Ventricular septal defect OMIM:614653
Bardet-Biedl Syndrome 12
Hydroureter, Cystic renal dysplasia, Hydronephrosis OMIM:615989
Hypocalciuric Hypercalcemia, Familial, Type Iii
Multiple small medullary renal cysts, Parathormone-independent increased renal tubular calcium re... OMIM:600740
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Cystic renal dysplasia, Micromelia OMIM:200995
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect, Microcephaly OMIM:259770
Immunodeficiency 96
Multicystic kidney dysplasia OMIM:619774
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Unilateral renal agenesis, Atrial ... OMIM:308205
Peroxisome Biogenesis Disorder 1B
Renal cyst, Hyperoxaluria OMIM:601539
Fraser Syndrome
Dental malocclusion, Urethral atresia, Multicystic kidney dysplasia, Myelomeningocele, Encephaloc... ORPHA:2052
Proteus Syndrome
Enlarged polycystic ovaries, Arteriovenous malformation, Macrocephaly, Long penis, Renal cyst, Ca... ORPHA:744
Von Hippel-Lindau Syndrome
Pancreatic cysts, Multiple renal cysts, Renal cell carcinoma, Epididymal cyst OMIM:193300
Branchiooculofacial Syndrome
Micrognathia, Renal agenesis, Renal cyst, Hypospadias, Microcephaly, Cleft of chin, Malar flatten... OMIM:113620
Combined Immunodeficiency-Enteropathy Spectrum
Ventricular septal defect ORPHA:436252
Attenuated Familial Adenomatous Polyposis
Multiple renal cysts ORPHA:220460
Microphthalmia, Syndromic 1
Agenesis of maxillary lateral incisor, Renal hypoplasia/aplasia, Bicuspid aortic valve, Hydrouret... OMIM:309800
Pmm2-Cdg
Retrognathia, Mandibular prognathia, Nephrotic syndrome, Pericardial effusion, Abnormal renal tub... ORPHA:79318

Histopathology

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

There is no histopathology data for Dctn5

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Dctn5.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Dctn5tm2a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Dctn5tm1a(KOMP)Wtsi PMC6459510

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MGI Allele Allele Type Produced
Dctn5tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Dctn5tm41679(L1L2_Pgk_PM) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Dctn5tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Dctn5tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Dctn5tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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