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

Download data as:  TSV  XLS

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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