Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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

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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 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
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

View all 72 images

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
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
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Cataract 44
Developmental cataract OMIM:616509
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Situs inversus totalis, Porencephalic cyst, Cerebellar hypoplasia, Atrial se... 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
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular 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 14
Cerebellar vermis hypoplasia, Polycystic kidney dysplasia, Nephronophthisis, Situs inversus totalis OMIM:614844
Genitopalatocardiac Syndrome
Micrognathia, Right aortic arch, Ventricular septal defect, Renal cyst, Transposition of the grea... OMIM:231060
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Nephronophthisis 16
Aortic valve stenosis, Nephronophthisis, Hypertrophic cardiomyopathy, Stage 5 chronic kidney dise... OMIM:615382
Aminopterin/Methotrexate Embryofetopathy
Mandibular prognathia, Spinal dysraphism, Micromelia, Aplasia/Hypoplasia of the corpus callosum, ... ORPHA:1908
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Nathalie Syndrome
Cataract ORPHA:2663
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... OMIM:618300
X-Linked Retinoschisis
Cataract ORPHA:792
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, 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
Right Atrial Isomerism
Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Pulmonary artery atr... OMIM:208530
Foveal Hypoplasia 1
Presenile cataracts OMIM:136520
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Situs inversus totalis, Dextrocardia ORPHA:66630
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Tetralogy of Fallot, Micrognathia, Microcephaly, Overriding aorta, Persistent left superior vena ... ORPHA:3304
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta, Perimembranous ventricular septal defect, Secundum atrial septal defect OMIM:212090
Heterotaxy, Visceral, 2, Autosomal
Bilateral superior vena cava, Left atrial isomerism, Abdominal situs inversus, Atrioventricular c... OMIM:605376
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Dysplastic corpus callosum, Cardiomegaly, Perimembranous ventricular... OMIM:620135
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Pu... OMIM:616749
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Microcephaly, Perimembranous ventricular septal defect, Periventricular leukomalacia OMIM:619170
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Syntelencephaly, Microcephaly, Hydrocephal... OMIM:609637
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Cerebral cortical atrophy, Holoprosencephaly, Microcephaly ORPHA:2523
Galactosemia Ii
Cataract OMIM:230200
Cataract 47
Cataract, Microcornea OMIM:612018
Lambotte Syndrome
Microcephaly, Semilobar holoprosencephaly, Retrognathia, Ventricular septal defect OMIM:245552
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Carious teeth, Arteriovenous malformation, Hypoplasia of the zyg... ORPHA:1110
Bardet-Biedl Syndrome 8
Hypospadias, Situs inversus totalis, Renal dysplasia OMIM:615985
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cerebral cortical atrophy, Tetralogy of Fallot, Micrognathia, Vesicoureteral reflux, Abnormal aor... ORPHA:1166
Galactosemia Iv
Cataract OMIM:618881
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Ciliary Dyskinesia, Primary, 53
Cerebellar vermis hypoplasia, Abdominal situs inversus, Situs inversus totalis, Right aortic arch... OMIM:620642
Distal Deletion 13Q
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Renal hypoplasia/aplasia, Microcephaly,... ORPHA:1590
Meckel Syndrome 13
Cerebellar hypoplasia, Polycystic kidney dysplasia, Micrognathia, Occipital encephalocele OMIM:617562
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Carious teeth, Dental malocclusion, Retrognathia, Recurrent urinary tr... ORPHA:363444
Agnathia-Otocephaly Complex
Secundum atrial septal defect, Micrognathia, Situs inversus totalis, Agenesis of corpus callosum,... OMIM:202650
Meckel Syndrome, Type 8
Occipital encephalocele, Hyperechogenic kidneys, Encephalocele, Microcephaly, Pericardial effusio... OMIM:613885
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Anterior encephalocele, Absent septum pellucidum, Amelia, Ventricular septal d... OMIM:601357
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Micrognathia, Ventricular sep... OMIM:220210
Microhydranencephaly, X-Linked
Microcephaly, Holoprosencephaly OMIM:306990
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Cardiomegaly, Bicus... ORPHA:1457
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Unilateral renal agenesis, Bilateral renal agenesis, Anomalous origin of ... OMIM:618845
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Hypoplastic pulmonary vei... OMIM:613854
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Abdominal situs ... OMIM:620570
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract OMIM:600881
Pseudotrisomy 13 Syndrome
Renal hypoplasia, Renal agenesis, Polymicrogyria, 11 pairs of ribs, Encephalocele, Complete atrio... OMIM:264480
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:617205
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Ciliary Dyskinesia, Primary, 36, X-Linked
Situs inversus totalis, Recurrent sinusitis OMIM:300991
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria, Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Stroke, Atrial ... OMIM:249270
Developmental And Epileptic Encephalopathy 102
Microcephaly, Situs inversus totalis, Atrial septal defect OMIM:619881
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma OMIM:604219
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis, Recurrent sinusitis OMIM:608644
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellum, Mandib... ORPHA:990
Mirror Movements 3
Situs inversus totalis OMIM:616059
Megabladder, Congenital
Hyperechogenic kidneys, Left ventricular noncompaction cardiomyopathy, Stage 5 chronic kidney dis... OMIM:618719
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti... OMIM:617610
Ciliary Dyskinesia, Primary, 25
Recurrent sinusitis, Microcephaly, Situs inversus totalis, Dextrocardia OMIM:615482
Recombinant Chromosome 8 Syndrome
Cerebral atrophy, Secondary microcephaly, Tetralogy of Fallot, Micrognathia, Malar flattening, Ve... OMIM:179613
Cataract 1, Multiple Types
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract OMIM:116200
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve... ORPHA:477817
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Cerebral cortical atrophy, Hydranencephaly, Aplasia/Hypoplasia of the corpus callosum, Micrognath... ORPHA:2570
Distal Triplication 15Q
Dilatation of the renal pelvis, Retrognathia, Abnormal heart morphology, Horseshoe kidney, Microg... ORPHA:314588
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Ciliary Dyskinesia, Primary, 30
Chronic sinusitis, Situs inversus totalis, Dextrocardia, Ventricular septal defect OMIM:616037
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Ventricular septal defect, Overriding aorta, Atrial septal defect, Patent ductus arteriosus, Vasc... OMIM:601927
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Situs inversus totalis,... OMIM:602088
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Situs inversus totalis, Renal... OMIM:613095
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Short 5th finger, Secundum atrial septal defect, Ventricular septal defect, Microcephaly, Perimem... OMIM:600987
Thanatophoric Dysplasia Type 2
Micromelia, Encephalocele, Hydrocephalus, Atrial septal defect, Macrocephaly, Abnormality of the ... ORPHA:93274
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Tetralogy of Fallot, Microcephaly, Mul... ORPHA:3033
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Horseshoe kidney, Crossed fus... ORPHA:3097
Ciliary Dyskinesia, Primary, 17
Chronic sinusitis, Situs inversus totalis, Dextrocardia OMIM:614679
Proximal Myotonic Myopathy
Cataract ORPHA:606
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia OMIM:618948
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Situs inversus totalis, Recurrent sinusitis OMIM:620032
Indomethacin Embryofetopathy
Nephropathy, Multicystic kidney dysplasia, Cardiomyopathy, Renal insufficiency, Ventricular septa... ORPHA:1909
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Marfanoid Habitus With Situs Inversus
Aortic root aneurysm, Situs inversus totalis, Mitral valve prolapse, Persistent left superior ven... OMIM:609008
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Ciliary Dyskinesia, Primary, 37
Right aortic arch, Situs inversus totalis, Dextrocardia OMIM:617577
Trisomy 17P
Aortic valve stenosis, Hypoplastic left heart, Micrognathia, Malar flattening, Hydronephrosis, Mi... ORPHA:261290
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Ventricular septal defect, Agenesis of corpus callosum, Hydrocephalus, Hypoplas... ORPHA:77298
Marden-Walker Syndrome
Multicystic kidney dysplasia, Micrognathia, Agenesis of corpus callosum, Ventricular septal defec... ORPHA:2461
Nathalie Syndrome
Cataract OMIM:255990
Feingold Syndrome Type 2
Short middle phalanx of finger, Microcephaly, Short thumb, Ventricular septal defect ORPHA:391646
Ring Chromosome 21 Syndrome
Abnormal heart morphology, Microcephaly, Small hand, Holoprosencephaly ORPHA:1445
Feingold Syndrome 2
Short thumb, Secondary microcephaly, Short middle phalanx of the 2nd finger, Ventricular septal d... OMIM:614326
Ciliary Dyskinesia, Primary, 38
Chronic sinusitis, Situs inversus totalis, Dextrocardia OMIM:618063
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Chronic sinusitis, Situs inversus totalis, Abdominal situs inversus, Dextrocardia OMIM:619607
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Abnormal heart morphology, Abnormal atrial arrangement, Abnormal inferior... ORPHA:244
Ciliary Dyskinesia, Primary, 24
Situs inversus totalis, Recurrent sinusitis OMIM:615481
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral artery hypoplasia, Aplasia of posterior communicating artery, Myelomeningocele, Situs i... OMIM:613686
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis, Hydranencephaly, Short distal phalanx of finger, Truncus arteriosus, V... OMIM:601355
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Ciliary Dyskinesia, Primary, 23
Situs inversus totalis, Recurrent sinusitis OMIM:615451
Cataract 3, Multiple Types
Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract OMIM:601547
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Sandestig-Stefanova Syndrome
Retrognathia, Muscular ventricular septal defect, Hypoplasia of the corpus callosum, Perimembrano... OMIM:618804
Snijders Blok-Campeau Syndrome
Taurodontia, Perimembranous ventricular septal defect, Enamel hypoplasia, Atrial septal defect, M... OMIM:618205
Gillessen-Kaesbach-Nishimura Syndrome
Retrognathia, Abnormal heart morphology, Micrognathia, Microcephaly, Polycystic kidney dysplasia OMIM:263210
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Polymicrogyria, Situs inversus totalis, Agenesis of corpus callosum, Dysplastic corpus callosum, ... OMIM:614833
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Hypoplasia of the pons, Ventricular septal defect, Microcephaly, Atrial septal defect, Thin corpu... OMIM:614249
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Polymicrogyria, Ventricular septal defect, Hydrocephalus, Abnormal cardiac septum morphology, Mac... ORPHA:83473
Triploidy
Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Hydrocephalus, Abnormal cardiac septum m... ORPHA:3376
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Mandibular prognathia, Tetralogy of Fallot, Malar flattening, Abno... ORPHA:1919
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Ciliary Dyskinesia, Primary, 10
Chronic sinusitis, Situs inversus totalis, Recurrent sinusitis OMIM:612518
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Hepatic cysts, Truncu... OMIM:615415
Ciliary Dyskinesia, Primary, 9
Chronic sinusitis, Situs inversus totalis, Recurrent sinusitis OMIM:612444
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Cerebellar agenesis, Cerebellar hypoplasia, Hydrocephalus, Holoprosencephaly, Da... OMIM:617967
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short toe, Short 5th metacarpal, 11 pairs of ribs, Perimembranous ventricular septal defect, Pulm... OMIM:617877
Diabetic Embryopathy
Spinal dysraphism, Aplasia/Hypoplasia of the corpus callosum, Tetralogy of Fallot, Micrognathia, ... ORPHA:1926
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Cerebral berry aneurysm, Hepatic cysts, Mitral valve prolapse, Polycystic ki... OMIM:173900
Meckel Syndrome, Type 7
Aortic valve stenosis, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Situs invers... OMIM:267010
Ciliary Dyskinesia, Primary, 13
Situs inversus totalis, Recurrent sinusitis OMIM:613193
Ciliary Dyskinesia, Primary, 27
Chronic sinusitis, Situs inversus totalis, Recurrent sinusitis OMIM:615504
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Ciliary Dyskinesia, Primary, 16
Situs inversus totalis, Chronic sinusitis OMIM:614017
Dextrocardia
Abnormality of abdominal situs, Abnormal heart morphology, Abnormality of the ureter, Situs inver... ORPHA:1666
Hypoglossia With Situs Inversus
Micrognathia, Situs inversus totalis OMIM:612776
Heterotaxy, Visceral, 5, Autosomal
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Double inlet lef... OMIM:270100
Mmep Syndrome
Microcephaly, Mandibular prognathia, Ventricular septal defect ORPHA:3434
Aniridia 2
Lens subluxation, Cataract, Aniridia, Iris coloboma OMIM:617141
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly, Macrocephaly OMIM:300706
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hematuria, Overriding aorta, Patent ductus arteriosus, Ventricular septal defect OMIM:617021
Ciliary Dyskinesia, Primary, 7
Situs inversus totalis, Dextrocardia OMIM:611884
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... OMIM:217095
Bardet-Biedl Syndrome 17
Stage 5 chronic kidney disease, Situs inversus totalis, Renal cyst, Polyuria, Dextrocardia, Micro... OMIM:615994
Ciliary Dyskinesia, Primary, 29
Situs inversus totalis OMIM:615872
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Acalvaria
Holoprosencephaly, Hydrocephalus, Spina bifida, Aplasia/Hypoplasia of the cerebellum ORPHA:945
Holoprosencephaly 14
Alobar holoprosencephaly, Absent septum pellucidum, Ventricular septal defect, Microcephaly, Part... OMIM:619895
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Distal Monosomy 7Q36
Micrognathia, Microcephaly, Hypoplasia of penis, Holoprosencephaly ORPHA:1636
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Tetralogy of Fallot, Renal hypoplasia/aplasia, Missing ribs, Microcephaly, Overriding aorta, Apla... ORPHA:3186
Ciliary Dyskinesia, Primary, 51
Situs inversus totalis, Recurrent sinusitis OMIM:620438
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Fetal Minoxidil Syndrome
Micrognathia, Ventricular septal defect ORPHA:1918
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Left superior ve... OMIM:306955
Vissers-Bodmer Syndrome
Holoprosencephaly, Decreased head circumference OMIM:619033
Ciliary Dyskinesia, Primary, 35
Abdominal situs ambiguus, Situs inversus totalis, Chronic sinusitis OMIM:617092
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Polymicrogyria, Type II lissencephaly, Agyria, Hypoplasia of the brainste... OMIM:253800
Meckel Syndrome, Type 4
Agenesis of cerebellar vermis, Encephalocele, Hypoplasia of the corpus callosum, Ventricular sept... OMIM:611134
Ciliary Dyskinesia, Primary, 18
Abdominal situs ambiguus, Situs inversus totalis, Recurrent sinusitis OMIM:614874
Ciliary Dyskinesia, Primary, 28
Situs inversus totalis, Recurrent sinusitis OMIM:615505
Meckel Syndrome, Type 11
Polycystic kidney dysplasia, Occipital encephalocele OMIM:615397
Ciliary Dyskinesia, Primary, 32
Situs inversus totalis, Chronic sinusitis OMIM:616481
Carnitine Palmitoyltransferase Ii Deficiency
Cerebellar vermis hypoplasia, Red-brown urine, Cardiomyopathy, Polymicrogyria, Cerebral calcifica... ORPHA:157
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:620294
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cerebellar vermis hypoplasia, Red-brown urine, Cardiomyopathy, Polymicrogyria, Intracerebral peri... ORPHA:228308
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Micrognathia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ventricular septal ... ORPHA:508498
Cataract 17, Multiple Types
Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract OMIM:611544
Ciliary Dyskinesia, Primary, 12
Situs inversus totalis, Chronic sinusitis OMIM:612650
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Short toe, Aplasia of the middle phalanx of the 4th ... OMIM:615297
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Polycystic Kidney Disease 7
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... OMIM:620056
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Short distal phalanx of finger, Renal agenesis, Micrognathia, Abnormal aortic morphology, Truncus... ORPHA:2516
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Primum atrial septal defect, Chronic sinusitis, Partial atrioventricular ... OMIM:619608
Congenital Disorder Of Glycosylation, Type Il
Global brain atrophy, Cerebral atrophy, Microcephaly, Atrial septal defect, Pericardial effusion,... OMIM:608776
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Dextrocardia, Sinusitis OMIM:606763
Joubert Syndrome 18
Occipital encephalocele, Retrognathia, Horseshoe kidney, Ventricular septal defect, Agenesis of c... OMIM:614815
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Situs inversus totalis, Atrial situs inversus, Ventricular septal defect, ... OMIM:615067
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Long penis, Aplasia/Hypoplasia of the corpus callosum, Micrognat... ORPHA:1988
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Vascular dilatation OMIM:614859
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... ORPHA:1330
Holoprosencephaly 11
Microcephaly, Holoprosencephaly, Agenesis of corpus callosum OMIM:614226
Cataract 5, Multiple Types
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... OMIM:225200
Mungan Syndrome
Renal hypoplasia, Perimembranous ventricular septal defect, Vesicoureteral reflux, Pulmonic stenosis OMIM:611376
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Linear Skin Defects With Multiple Congenital Anomalies 1
Absent septum pellucidum, Histiocytoid cardiomyopathy, Ventricular septal defect, Agenesis of cor... OMIM:309801
Ciliary Dyskinesia, Primary, 26
Situs inversus totalis, Recurrent sinusitis OMIM:615500
Meckel Syndrome 14
Microretrognathia, Occipital encephalocele, Retrognathia, Micrognathia, Single ventricle, Holopro... OMIM:619879
Nemaline Myopathy 9
Micrognathia, Ventricular septal defect OMIM:615731
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Unilateral renal agenesis, Retrognathia, Crossed fused renal ectopia, Micrognathia, Hypoplasia of... OMIM:618142
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Scimitar Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, At... ORPHA:185
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Holoprosencephaly-Caudal Dysgenesis Syndrome
Microcephaly, Holoprosencephaly, Renal insufficiency, Abnormal cerebral vascular morphology ORPHA:2165
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Micrognathia, Ventricular septal defect, Microcephaly, Transposition of the ... ORPHA:1913
Ciliary Dyskinesia, Primary, 14
Chronic sinusitis, Situs inversus totalis, Heterotaxy OMIM:613807
Odontochondrodysplasia 1
Dentinogenesis imperfecta, Nephronophthisis, Delayed eruption of teeth, Micromelia, Macrocephaly,... OMIM:184260
Holoprosencephaly-Postaxial Polydactyly Syndrome
Abnormal localization of kidney, Hypoplasia of the premaxilla, Aplasia/Hypoplasia of the corpus c... ORPHA:2166
Heart Defects-Limb Shortening Syndrome
Mesomelic/rhizomelic limb shortening, Abnormal tricuspid valve morphology, Abnormal mitral valve ... ORPHA:1354
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Situs inversus totalis, Recurrent sinusitis OMIM:620197
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Micrognathia, Ventricular septal defect OMIM:617022
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Total absence of the pericardium, Hypoplastic tricuspid valve, Glycosuri... OMIM:600001
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Maternal Phenylketonuria
Hypoplastic left heart, Abnormal heart morphology, Tetralogy of Fallot, Micrognathia, Hypoplasia ... ORPHA:2209
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Stage 5 chronic kidney disease, Situs inversus totalis, Renal insufficienc... OMIM:208540
Retinitis Pigmentosa 40
Cataract OMIM:613801
Holoprosencephaly 13, X-Linked
Hypoplastic left heart, Alobar holoprosencephaly, Semilobar holoprosencephaly, Micrognathia, Pate... OMIM:301043
Congenital Disorder Of Glycosylation, Type Iie
Secundum atrial septal defect, Retrognathia, Cerebral atrophy, Micrognathia, Hypoplasia of the co... OMIM:608779
Pagod Syndrome
Hypoplastic left heart, Multicystic kidney dysplasia, Pulmonary artery hypoplasia, Situs inversus... ORPHA:991
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Secondary microcephaly, Ventricular septal defect, Cerebellar hypoplasia, Ectopic kidney, Cystic ... OMIM:613730
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Phelan-Mcdermid Syndrome
Dental malocclusion, Abnormal periventricular white matter morphology, Vesicoureteral reflux, Mic... OMIM:606232
Cataract 41
Nuclear cataract OMIM:116400
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 18
Nuclear cataract OMIM:610019
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat... OMIM:607941
Chromosome 9P Deletion Syndrome
Retrognathia, Micrognathia, Malar flattening, Ventricular septal defect, Perimembranous ventricul... OMIM:158170
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... OMIM:606217
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... ORPHA:216694
Hadziselimovic Syndrome
Ventricular hypertrophy, Renal hypoplasia, Tetralogy of Fallot, Hypoplasia of the corpus callosum... OMIM:612946
Ciliary Dyskinesia, Primary, 22
Recurrent sinusitis, Situs inversus totalis, Dextrocardia OMIM:615444
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ... OMIM:613751
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cerebral atrophy, Renal tubular dysfunction, Prominence of the premaxilla, Microcephaly, Double o... OMIM:614886
Cataract 39, Multiple Types
Lamellar cataract, Developmental cataract, Anterior polar cataract OMIM:615188
Apert Syndrome
Dental malocclusion, Delayed eruption of teeth, Rhizomelic arm shortening, Absent septum pellucid... OMIM:101200
Ellis Van Creveld Syndrome
Short distal phalanx of finger, Hydroureter, Delayed eruption of teeth, Micromelia, Atrioventricu... ORPHA:289
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Cerebral ... OMIM:613759
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Aplastic clavicle, Micromelia, Polymicrogyria, Hypoplasia of the br... OMIM:616546
Short-Rib Thoracic Dysplasia 12
Renal hypoplasia, Hypoplastic scapulae, Natal tooth, Short toe, Short finger, Patent foramen oval... OMIM:269860
Hoxha-Aliu Syndrome
Short fifth metatarsal, Short distal phalanx of finger, Short 4th toe, Foot oligodactyly, Short 5... OMIM:620662
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Dilatation of the cerebral artery, Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Cataract 2, Multiple Types
Microcornea, Nuclear cataract, Nuclear pulverulent cataract, Developmental cataract, Aculeiform c... OMIM:604307
Congenital Gerbode Defect
Bacterial endocarditis, Ventricular septal defect, Constrictive pericarditis, Perimembranous vent... ORPHA:99095
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... OMIM:610202
Beaulieu-Boycott-Innes Syndrome
Unilateral renal agenesis, Carious teeth, Dental malocclusion, Recurrent urinary tract infections... OMIM:613680
Joubert Syndrome
Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Polymicrogyria, Situs in... ORPHA:475
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Tetralogy of Fallot, Renal insufficiency, Right aortic arch, Ventricular... OMIM:617478
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Left superior vena cava draining directly to the left a... OMIM:619657
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Verheij Syndrome
Short 5th finger, Renal hypoplasia, Renal agenesis, Cerebral atrophy, Retrognathia, Truncus arter... OMIM:615583
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Global brain atrophy, Retrognathia, Vesicoureteral reflux, Hypoplasia of the corpus callosum, Age... OMIM:301056
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Hydronephrosis, Pulmonic stenosis, Ventricular septal defect ORPHA:251076
Leber Congenital Amaurosis 6
Cataract, Keratoconus OMIM:613826
Monosomy 18P
Carious teeth, Microcephaly, Holoprosencephaly, Micrognathia ORPHA:1598
Halperin-Birk Syndrome
Micrognathia, Perimembranous ventricular septal defect, Semilobar holoprosencephaly, Agenesis of ... OMIM:618651
Orofaciodigital Syndrome I
Abnormal cortical gyration, Carious teeth, Microretrognathia, Cerebral atrophy, Myelomeningocele,... OMIM:311200
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Micrognathia, Atrial septal defect, Ventricular septal defect OMIM:608227
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Catel-Manzke Syndrome
Micrognathia, Malar flattening, Atrial septal defect, Ventricular septal defect ORPHA:1388
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Renal agenesis, Cerebral atrophy, Malar flattening, Ventricular septal def... OMIM:301040
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ... ORPHA:261243
Thomas Syndrome
Hypoplastic left heart, Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Ciliary Dyskinesia, Primary, 15
Situs inversus totalis, Chronic sinusitis OMIM:613808
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Polymicrogyria, Intracerebral periventricular calcifications, Renal insuf... OMIM:608836
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep... OMIM:614980
Microcephaly-Cardiomyopathy Syndrome
Microcephaly, Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Natal tooth, Micrognathia, Hypoplasia of the corpus callosum, Ventricula... OMIM:615948
Microform Holoprosencephaly
Renal agenesis, Tetralogy of Fallot, Agenesis of corpus callosum, Microcephaly, Hypoplasia of pen... ORPHA:280200
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Renal hypoplasia, Partial atrioventricular canal defect, Renal insufficie... OMIM:615996
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Absent septum pellucidum, Agenesis of corpus callosum, Hydrocephalus, Aqueductal stenosis, Holopr... ORPHA:2182
Ciliary Dyskinesia, Primary, 19
Situs inversus totalis, Recurrent sinusitis OMIM:614935
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Dou... OMIM:618316
Fumarase Deficiency
Aminoaciduria, Elevated urine fumaric acid level, Open operculum, Cerebral atrophy, Polymicrogyri... OMIM:606812
Aniridia 3
Cataract, Aniridia OMIM:617142
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Left ventricular noncompaction, Interstitial... OMIM:613426
Meckel Syndrome
Multicystic kidney dysplasia, Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Situs inve... ORPHA:564
Microphthalmia/Coloboma 5
Holoprosencephaly OMIM:611638
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Interrupted aortic arch, Tetralogy of Fallot, Micrognathia, Ventricular s... ORPHA:1727
Congenital Disorder Of Glycosylation, Type Ih
Perimembranous ventricular septal defect, Patent ductus arteriosus OMIM:608104
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Cerebral atrophy, Ventricular septal defect ORPHA:306550
Ventricular Septal Defect 3
Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:614432
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Isolated Aniridia
Cataract, Aniridia, Peters anomaly ORPHA:250923
Mesoaxial Hexadactyly And Cardiac Malformation
Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:249670
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Ciliary Dyskinesia, Primary, 5
Situs inversus totalis, Recurrent sinusitis OMIM:608647
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Abnormal a... ORPHA:1052
Alagille Syndrome 2
Renal hypoplasia, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Renal insufficiency,... OMIM:610205
Laubry-Pezzi Syndrome
Abnormal coronary artery morphology, Patent foramen ovale, Aortic valve prolapse, Ventricular sep... ORPHA:99094
Hartsfield Syndrome
Aplasia/Hypoplasia of the radius, Encephalocele, Lobar holoprosencephaly, Aplasia/Hypoplasia of t... ORPHA:2117
Ciliary Dyskinesia, Primary, 1
Absent frontal sinuses, Communicating hydrocephalus, Situs inversus totalis, Chronic sinusitis OMIM:244400
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Double Outlet Right Ventricle
Hypoplastic left heart, Tetralogy of Fallot, Heterotaxy, Truncus arteriosus, Ventricular septal d... ORPHA:3426
Renal Dysplasia, Cystic, Susceptibility To
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... OMIM:601331
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Micromelia, Hyperechogenic kidneys, Micrognathia, Short ribs, Missing ribs, Hydrocephalus, Polycy... OMIM:617866
Chromosome 1Q41-Q42 Deletion Syndrome
Cerebellar hypoplasia, Microcephaly, Holoprosencephaly, Ventricular septal defect OMIM:612530
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect OMIM:253300
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency OMIM:615987
Joubert Syndrome 39
Hypoplastic left heart, Cerebellar vermis hypoplasia, Polycystic kidney dysplasia, Occipital ence... OMIM:619562
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma OMIM:120433
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis OMIM:615434
Leukoencephalopathy With Vanishing White Matter 2
Cataract OMIM:620312
Pallister-Hall Syndrome
Renal hypoplasia, Hydroureter, Natal tooth, Distal shortening of limbs, Distal urethral duplicati... OMIM:146510
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hepati... OMIM:618061
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Aplasia/Hypoplasia of the radius, Ventricular septal defect, Spina bifida... ORPHA:2476
Hyperparathyroidism 2 With Jaw Tumors
Papillary renal cell carcinoma, Nephroblastoma, Nephrolithiasis, Polycystic kidney dysplasia, Ren... OMIM:145001
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micrognathia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ventricular septal ... OMIM:210710
16P13.11 Microdeletion Syndrome
Ventricular septal defect, Agenesis of corpus callosum, Microcephaly, Atrial septal defect, Holop... ORPHA:261236
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus, Aplasia/Hypoplasia of the cerebellum ORPHA:588
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
49,Xxxxy Syndrome
Carious teeth, Delayed eruption of teeth, Abnormal dental enamel morphology, Hypoplasia of the co... ORPHA:96264
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Jacobsen Syndrome
Micrognathia, Ventricular septal defect, Missing ribs, Microcephaly, Hydrocephalus, Atrial septal... OMIM:147791
Multiple Acyl-Coa Dehydrogenase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Cardiomyopathy, Abnormal heart morphology, Macrocep... ORPHA:26791
Peroxisome Biogenesis Disorder 2A (Zellweger)
Abnormal heart morphology, Micrognathia, Polycystic kidney dysplasia, Aminoaciduria OMIM:214110
Nephronophthisis 20
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... OMIM:617271
Cataract 48
Cataract OMIM:618415
Craniofacial Dyssynostosis With Short Stature
Horseshoe kidney, Malar flattening, Hypoplasia of the corpus callosum, Ventricular septal defect,... OMIM:218350
14Q11.2 Microdeletion Syndrome
Micrognathia, Patent ductus arteriosus, Ventricular septal defect ORPHA:261120
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi... ORPHA:860
Chromosome 3Q13.31 Deletion Syndrome
Micropenis, Alobar holoprosencephaly, Agenesis of corpus callosum OMIM:615433
Oculoauriculofrontonasal Syndrome
Micrognathia, Encephalocele, Pericallosal lipoma, Ventricular septal defect, Microcephaly, Macroc... ORPHA:398156
Femoral-Facial Syndrome
Micrognathia, Encephalocele, Ventricular septal defect, Agenesis of corpus callosum, Aplasia/hypo... OMIM:134780
Trisomy 18
Microretrognathia, Aplasia/Hypoplasia of the corpus callosum, Ventricular septal defect, Hydronep... ORPHA:3380
Cataract 20, Multiple Types
Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract OMIM:116100
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Short thumb, Retrognathia, Tetralogy of Fallot, Micrognathia, Mitral val... OMIM:612561
Primary Non-Essential Cutis Verticis Gyrata
Microcephaly, Periventricular leukomalacia, Atrial septal defect, Ventricular septal defect ORPHA:357225
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Grange Syndrome
Arterial stenosis, Patent ductus arteriosus, Short palm, Ventricular septal defect ORPHA:79094
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Micrognathia, Retrognathia, Ventricular septal defect OMIM:615524
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lens subluxation, Cataract OMIM:614292
Bardet-Biedl Syndrome 16
Renal agenesis, Stage 5 chronic kidney disease, Renal insufficiency, Renal cyst, Renal dysplasia OMIM:615993
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... ORPHA:1455
Congenital Varicella Syndrome
Cataract ORPHA:291
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Hypertrophic cardiomyopathy, Ventricular septal defect, Cerebellar hypopl... OMIM:616276
Renpenning Syndrome 1
Renal hypoplasia, Mandibular prognathia, Cerebral atrophy, Tetralogy of Fallot, Micrognathia, Sit... OMIM:309500
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polymicrogyria, Nephroblastoma, Ventricular septal defect, Progressive macrocephaly, Hydrocephalu... OMIM:602501
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu... ORPHA:261183
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short distal phalanx of finger, Renal hypoplasia, Hypoplastic scapulae, Micromelia, Short ribs, R... OMIM:614091
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Hepatic cysts,... OMIM:263200
Atrioventricular Septal Defect 5
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Hajdu-Cheney Syndrome
Dental malocclusion, Micrognathia, Malar flattening, Ventricular septal defect, Absent frontal si... OMIM:102500
Say Syndrome
Short distal phalanx of finger, Micrognathia, Microcephaly, Proximal renal tubular acidosis, Cyst... OMIM:181180
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Steinfeld Syndrome
Unilateral renal dysplasia, Abnormal heart morphology, Missing ribs, Aplasia/Hypoplasia of the th... OMIM:184705
Fliedner-Zweier Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Hypoplastic aortic arch, Hypoplasia of t... OMIM:620511
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
X-Linked Lissencephaly With Abnormal Genitalia
Micrognathia, Ventricular septal defect, Agenesis of corpus callosum, Microcephaly, Pachygyria, H... ORPHA:452
Prune Belly Syndrome
Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infections, Tetralogy of Fallo... ORPHA:2970
Xk Aprosencephaly Syndrome
Microcephaly, Atrial septal defect, Ventricular septal defect ORPHA:3469
Catel-Manzke Syndrome
Short toe, Micrognathia, Short humerus, Ventricular septal defect, Overriding aorta, Coarctation ... OMIM:616145
Charge Syndrome
Micrognathia, Ventricular septal defect, Overriding aorta, Atrial septal defect, Absent radius, H... OMIM:214800
Holoprosencephaly
Spinal dysraphism, Abnormality of the urinary system, Hypoplasia of the zygomatic bone, Aplasia/H... ORPHA:2162
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Ig... OMIM:616730
Meckel Syndrome, Type 1
Cerebral hypoplasia, Hypoplasia of the bladder, Occipital encephalocele, Renal agenesis, Natal to... OMIM:249000
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity ORPHA:293621
Williams Syndrome
Carious teeth, Micrognathia, Mitral valve prolapse, Ventricular septal defect, Polycystic ovaries... ORPHA:904
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Renal cortical cy... OMIM:231680
Lambert Syndrome
Aplasia/Hypoplasia of the cerebellum, Hypospadias, Malar flattening, Ventricular septal defect ORPHA:1296
Smith-Lemli-Opitz Syndrome
Micrognathia, Hypoplasia of the corpus callosum, Ventricular septal defect, Atrial septal defect,... OMIM:270400
Ventriculomegaly With Cystic Kidney Disease
Hyperechogenic kidneys, Renal insufficiency, Ventricular septal defect, Renal corticomedullary cy... OMIM:219730
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Smith-Lemli-Opitz Syndrome
Multicystic kidney dysplasia, Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Ventricula... ORPHA:818
Peroxisome Biogenesis Disorder 5A (Zellweger)
Polymicrogyria, Micrognathia, Ventricular septal defect, Cerebellar hypoplasia, Agenesis of corpu... OMIM:614866
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Micromelia, Ventricular septal defect, Microcephaly, Aplasia/Hypoplasia o... ORPHA:2772
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Endocrine-Cerebroosteodysplasia
Natal tooth, Micromelia, Focal polymicrogyria, Microphallus, Hyperechogenic kidneys, Micrognathia... OMIM:612651
Holoprosencephaly-Craniosynostosis Syndrome
Hypoplastic vertebral bodies, Microcephaly, Holoprosencephaly, Short distal phalanx of finger ORPHA:2163
Fanconi Anemia, Complementation Group O
Absent thumb, Short thumb, Abnormal heart morphology, Stage 5 chronic kidney disease, Hydronephro... OMIM:613390
Absence Deformity Of Leg-Cataract Syndrome
Cataract ORPHA:2310
22Q11.2 Deletion Syndrome
Carious teeth, Micrognathia, Ventricular septal defect, Atrial septal defect, Polycystic kidney d... ORPHA:567
14Q24.1Q24.3 Microdeletion Syndrome
Short thumb, Abnormal heart morphology, Truncus arteriosus, Ventricular septal defect, Atrial sep... ORPHA:401935
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Microcephaly, Delayed eruption of permanent teeth, Ventricular septal defect OMIM:618506
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Ig... OMIM:618348
Cataract 24
Anterior lenticonus, Anterior polar cataract OMIM:601202
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Aplasia/Hypoplasia of the distal phalanges of the toes, Mandibular prognathia, Malar flattening, ... ORPHA:94066
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... OMIM:617805
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Aortic root aneurysm, Abnormal urinary electrolyte concentration, Recurre... ORPHA:730
Hepatorenocardiac Degenerative Fibrosis
Hyperechogenic kidneys, Hypertrophic cardiomyopathy, Reduced renal corticomedullary differentiati... OMIM:619902
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Tetralogy of Fallot, Enamel agenesis, Microcephaly, Short femoral neck, Lobar holoprosencephaly OMIM:614701
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypoplasia of the pons, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Hypospadi... ORPHA:468631
Floating-Harbor Syndrome
Carious teeth, Dilatation of the renal pelvis, Atrial septal defect, Polycystic kidney dysplasia,... ORPHA:2044
Retinitis Pigmentosa 9
Cataract OMIM:180104
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract OMIM:600886
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Short 5th finger, Hypoplasia of the brainstem, Polymicrogyria, Abnormal heart morphology, Abnorma... ORPHA:500159
Chromosome 13Q14 Deletion Syndrome
Micrognathia, Absent septum pellucidum, Hypoplasia of the corpus callosum, Ventricular septal def... OMIM:613884
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Abnormal hear... ORPHA:3400
Li-Campeau Syndrome
Patellar hypoplasia, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Micro... OMIM:619189
Proboscis Lateralis
Abnormal corpus callosum morphology, Unilateral renal agenesis, Abnormality of the maxillary sinu... ORPHA:141099
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Ventricular septal defect OMIM:619717
Skraban-Deardorff Syndrome
Hyperplasia of the maxilla, Micrognathia, Right aortic arch, Hypoplasia of the corpus callosum, V... OMIM:617616
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Renal hypoplasia, Aplasia of the proximal phalanges of the hand, Micrognathia, Ventricular septal... ORPHA:2256
Joubert Syndrome 14
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Agenesis of cerebellar vermis, Encepha... OMIM:614424
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Vascular ring, Polymicrogyria, Macrocephaly, Hypoplasia of the corpus callosum, Ventricular septa... OMIM:603387
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Stankiewicz-Isidor Syndrome
Absent thumb, Short thumb, Retrognathia, Micrognathia, Truncus arteriosus, Ventricular septal def... OMIM:617516
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Cerebellar vermis hypoplasia, Ventricular septal defect, Short ribs, Micropenis, Atrial septal de... OMIM:263520
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Absent radius, Short humerus, Hydronephrosis, Persistent left supe... OMIM:314390