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Gene: Dctn5 MGI:1891689

Gene Summary

Name:

dynactin 5

Synonyms:

b2b315Clo, 4930427E12Rik, p25 dynactin subunit

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	Allele	Zyg	Life Stage	P Value
abnormal behavior	Dctn5^{tm2a(KOMP)Wtsi}	HET	Early adult	6.89×10^-05
cataract	Dctn5^{tm2a(KOMP)Wtsi}	HET	Early adult	9.83×10^-06
abnormal lens morphology	Dctn5^{tm2a(KOMP)Wtsi}	HET	Early adult	1.18×10^-05
preweaning lethality, complete penetrance	Dctn5^{tm2a(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	0.0%
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

Dctn5^{tm2a(KOMP)Wtsi}
body, WT, Female, WTSI

Dctn5^{tm2a(KOMP)Wtsi}
body, HET, Male, WTSI

Dctn5^{tm2a(KOMP)Wtsi}
head, HET, Male, WTSI

View all 72 images

Dctn5^{tm2a(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.

Human diseases associated with Dctn5 (0 diseases)
Human diseases predicted to be associated with Dctn5 (1177 diseases)

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	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
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	Agenesis of cerebellar vermis, Situs inversus totalis, Porencephalic cyst, Cerebellar hypoplasia,...	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	Punctate corneal dystrophy, Cataract, 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 16	Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis...	OMIM:615382
Genitopalatocardiac Syndrome	Ventricular septal defect, Hypospadias, Micrognathia, Renal cyst, Right aortic arch, Transpositio...	OMIM:231060
Nephronophthisis 14	Situs inversus totalis, Cerebellar vermis hypoplasia, Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Encephalocele, Ventricular septal defect,...	ORPHA:1908
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	Cataract	ORPHA:73245
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	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
Ciliary Dyskinesia, Primary, 40	Left Isomerism, Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted ...	OMIM:618300
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Uncombable Hair Syndrome 2	Juvenile cataract	OMIM:617251
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri...	OMIM:208530
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast...	OMIM:614779
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	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	Overriding aorta, Micrognathia, Microcephaly, Patent ductus arteriosus, Pulmonic stenosis, Atrial...	ORPHA:3304
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract	OMIM:274205
Aorta Coarctation	Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy...	ORPHA:1457
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract	ORPHA:2253
Microphthalmia, Isolated, With Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Congenital Pseudoarthrosis Of The Clavicle	Situs inversus totalis, Congenital pseudoarthrosis of the clavicle, Dextrocardia	ORPHA:66630
X-Linked Retinoschisis	Cataract	ORPHA:792
Heterotaxy, Visceral, 12, Autosomal	Left Isomerism, Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septa...	OMIM:619702
Mitochondrial Complex I Deficiency, Nuclear Type 36	Microcephaly, Perimembranous ventricular septal defect, Periventricular leukomalacia, Cardiomegaly	OMIM:619170
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Dysplastic corpus callosum, Perimembranous ventricular septal defect, ...	OMIM:620135
Heterotaxy, Visceral, 7, Autosomal	Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl...	OMIM:616749
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta	OMIM:212090
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Microcephaly, Situs inversus totalis, Atrioventricular canal defect, Bilateral supe...	OMIM:605376
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Microphthalmia, Isolated, With Cataract 1	Cataract	OMIM:156850
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Bicuspid aortic valve, Unilateral renal agenesis, Anomalous origin of left coronary artery from t...	OMIM:618845
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A...	OMIM:615779
Galactosemia Ii	Cataract	OMIM:230200
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Hypospadias, Micrognathia, Missing ribs, Hydrocephalus, Double outlet ...	OMIM:220210
Megabladder, Congenital	Multiple glomerular cysts, Ventricular septal defect, Bicuspid aortic valve, Left ventricular non...	OMIM:618719
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Cataract	OMIM:618463
Lambotte Syndrome	Semilobar holoprosencephaly, Retrognathia, Ventricular septal defect, Microcephaly	OMIM:245552
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Lobar holoprosencephaly, ...	OMIM:609637
Iris Pigment Layer, Cleavage Of	Cataract	OMIM:147610
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Bardet-Biedl Syndrome 8	Situs inversus totalis, Hypospadias, Renal dysplasia	OMIM:615985
Cataract 47	Microcornea, Cataract	OMIM:612018
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unilateral renal agen...	ORPHA:363444
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Renal hypoplasia/aplasia, Micrognathia, Microcephaly, Abnormal aortic ...	ORPHA:1166
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Mandibular prognathia, Overriding aorta, Microcephaly, Carious teeth, Abnormal aortic arch morpho...	ORPHA:1110
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Short femur, Ventricular septal defect, Absent septum pellucidum, Anterior encephalocele, Foot ol...	OMIM:601357
Distal Deletion 13Q	Encephalocele, Aplasia/Hypoplasia of the thumb, Microcephaly, Renal hypoplasia/aplasia, Anencepha...	ORPHA:1590
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Microcephaly, Pericardial effusion, Polycystic kidney dys...	OMIM:613885
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract	OMIM:619813
Spastic Paraparesis And Deafness	Cataract	OMIM:312910
Agnathia-Otocephaly Complex	Micrognathia, Secundum atrial septal defect, Situs inversus totalis, Holoprosencephaly, Mandibula...	OMIM:202650
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome	Holoprosencephaly, Cerebral cortical atrophy, Microcephaly	ORPHA:2523
Pseudotrisomy 13 Syndrome	11 pairs of ribs, Encephalocele, Ventricular septal defect, Dextrocardia, Renal agenesis, Microce...	OMIM:264480
Long Qt Syndrome 16	Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect	OMIM:618782
Spinocerebellar Ataxia, Autosomal Recessive 24	Cataract	OMIM:617133
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal renal morphology, Ab...	ORPHA:477817
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Aminoaciduria, Stroke, Atrial ...	OMIM:249270
Meckel Syndrome 13	Occipital encephalocele, Cerebellar hypoplasia, Polycystic kidney dysplasia, Micrognathia	OMIM:617562
Developmental And Epileptic Encephalopathy 102	Atrial septal defect, Microcephaly, Situs inversus totalis	OMIM:619881
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm...	OMIM:617205
Cataract 10, Multiple Types	Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Ciliary Dyskinesia, Primary, 36, X-Linked	Situs inversus totalis, Recurrent sinusitis	OMIM:300991
Marfanoid Habitus With Situs Inversus	Mandibular prognathia, Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmo...	OMIM:609008
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Cerebral atrophy, Secondary mi...	OMIM:179613
Microhydranencephaly, X-Linked	Holoprosencephaly, Microcephaly	OMIM:306990
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Hypoplasia of penis, Situs inversus totalis, Holoprosencephaly, Aplasia/Hypoplasia of the cerebel...	ORPHA:990
Meacham Syndrome	Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Situs inversus total...	ORPHA:3097
Ciliary Dyskinesia, Primary, 3	Situs inversus totalis, Recurrent sinusitis	OMIM:608644
Mirror Movements 3	Situs inversus totalis	OMIM:616059
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma	OMIM:604219
Cataract 11, Multiple Types	Cataract, Developmental cataract	OMIM:610623
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney...	OMIM:602088
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Situs inversus totalis, Recurrent sinusitis	OMIM:620032
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Situs inversus totalis, Dextrocardia	OMIM:618948
Ciliary Dyskinesia, Primary, 17	Situs inversus totalis, Chronic sinusitis, Dextrocardia	OMIM:614679
Trisomy 17P	Hypoplasia of penis, Urethral valve, Micrognathia, Microcephaly, Patent ductus arteriosus, Urethr...	ORPHA:261290
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept...	OMIM:601927
Renal-Hepatic-Pancreatic Dysplasia 2	Truncus arteriosus, Situs inversus totalis, Enlarged kidney, Aortic valve stenosis, Pulmonic sten...	OMIM:615415
Distal Triplication 15Q	Abnormality of the kidney, Micrognathia, Patent ductus arteriosus, Hypoplastic aortic arch, Dilat...	ORPHA:314588
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Ventricular septal defect, Microcephaly, Secundum atrial septal defect, Coarctation of aorta, Per...	OMIM:600987
Cataract 1, Multiple Types	Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract	OMIM:116200
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Bicuspid aortic valve, Microcephaly, Hydrocephalus, Cerebral atrophy, Secondary microcephaly, Hyp...	OMIM:615599
Thanatophoric Dysplasia Type 2	Encephalocele, Abnormality of the kidney, Micromelia, Patent ductus arteriosus, Hydrocephalus, Ho...	ORPHA:93274
Ciliary Dyskinesia, Primary, 25	Situs inversus totalis, Dextrocardia, Recurrent sinusitis, Microcephaly	OMIM:615482
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Renal insufficiency, Dextrocardia, Situs inversus totalis, St...	OMIM:613095
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Ciliary Dyskinesia, Primary, 37	Situs inversus totalis, Right aortic arch, Dextrocardia	OMIM:617577
Renal Tubular Dysgenesis	Microcephaly, Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renot...	ORPHA:3033
Tricuspid Atresia	Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s...	ORPHA:1209
Indomethacin Embryofetopathy	Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr...	ORPHA:1909
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract	OMIM:618660
Feingold Syndrome Type 2	Short middle phalanx of finger, Short thumb, Ventricular septal defect, Microcephaly	ORPHA:391646
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Dextrocardia	OMIM:618254
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Chronic sinusitis, Ventricular septal defect, Dextrocardia	OMIM:616037
Cataract 8, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:115665
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Ventricular septal defect, Microcephaly, Hypoplasia of the pons, Atrial septal defect, Thin corpu...	OMIM:614249
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Hydranencephaly, Micrognathia, Renal hypoplasia/aplasia, Microcephaly, Aplasia/Hypoplasia of the ...	ORPHA:2570
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe...	OMIM:617610
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Ring Chromosome 21 Syndrome	Microcephaly, Small hand, Holoprosencephaly, Abnormal heart morphology	ORPHA:1445
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Hypoplasia of penis, Ventricular septal defect, Hypospadias, Patent ductus arte...	ORPHA:77298
Feingold Syndrome 2	Ventricular septal defect, Short middle phalanx of the 2nd finger, Short thumb, Secondary microce...	OMIM:614326
Marden-Walker Syndrome	Micrognathia, Epispadias, Agenesis of corpus callosum, Abnormal penis morphology, Multicystic kid...	ORPHA:2461
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Situs inversus totalis, Pancreatic cysts...	OMIM:267010
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Ectopia lentis	ORPHA:1068
Cataract 22, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:609741
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Mitral valve prolapse, Polycystic kidney dysplasia, Cerebral ...	OMIM:173900
Snijders Blok-Campeau Syndrome	Perimembranous ventricular septal defect, Taurodontia, Pulmonic stenosis, Macrocephaly, Atrial se...	OMIM:618205
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	11 pairs of ribs, Short toe, Anterior open-bite malocclusion, Perimembranous ventricular septal d...	OMIM:617877
Primary Ciliary Dyskinesia	Abnormal atrial arrangement, Atrial situs ambiguous, Situs inversus totalis, Hydrocephalus, Anoma...	ORPHA:244
Ciliary Dyskinesia, Primary, 10	Situs inversus totalis, Chronic sinusitis, Recurrent sinusitis	OMIM:612518
Sandestig-Stefanova Syndrome	Muscular ventricular septal defect, Perimembranous ventricular septal defect, Hypoplasia of the c...	OMIM:618804
Nathalie Syndrome	Cataract	OMIM:255990
Ciliary Dyskinesia, Primary, 23	Situs inversus totalis, Recurrent sinusitis	OMIM:615451
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Ventricular septal defect, Unilateral renal agenesis, Microcephaly, Hydranencephaly, Truncus arte...	OMIM:601355
Ciliary Dyskinesia, Primary, 38	Situs inversus totalis, Chronic sinusitis, Dextrocardia	OMIM:618063
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Ventricular septal defect, Megalencephaly, Hydrocephalus, Abnormal localization of kidney, Abnorm...	ORPHA:83473
Congenital Disorder Of Glycosylation, Type Il	Microcephaly, Pericardial effusion, Abnormal cardiac septum morphology, Polycystic kidney dysplas...	OMIM:608776
Holoprosencephaly 14	Ventricular septal defect, Absent septum pellucidum, Microcephaly, Alobar holoprosencephaly, Aque...	OMIM:619895
Gillessen-Kaesbach-Nishimura Syndrome	Microcephaly, Micrognathia, Abnormal heart morphology, Polycystic kidney dysplasia, Retrognathia	OMIM:263210
Laterality Defects, Autosomal Dominant	Situs inversus totalis, Heterotaxy	OMIM:601086
Ciliary Dyskinesia, Primary, 16	Situs inversus totalis, Chronic sinusitis	OMIM:614017
Ciliary Dyskinesia, Primary, 24	Situs inversus totalis, Recurrent sinusitis	OMIM:615481
Ciliary Dyskinesia, Primary, 7	Situs inversus totalis, Dextrocardia	OMIM:611884
Triploidy	Hypoplasia of penis, Hypospadias, Micrognathia, Hydrocephalus, Meningocele, Aplasia/Hypoplasia of...	ORPHA:3376
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Ciliary Dyskinesia, Primary, 13	Situs inversus totalis, Recurrent sinusitis	OMIM:613193
Cataract 3, Multiple Types	Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract	OMIM:601547
Optic Atrophy 3, Autosomal Dominant	Cataract	OMIM:165300
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Phenobarbital Embryopathy	Mandibular prognathia, Hypospadias, Microcephaly, Aplasia/Hypoplasia of fingers, Abnormal mitral ...	ORPHA:1919
Mmep Syndrome	Mandibular prognathia, Ventricular septal defect, Microcephaly	ORPHA:3434
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract	ORPHA:1380
Diabetic Embryopathy	Ureteral duplication, Ventricular septal defect, Renal hypoplasia/aplasia, Micrognathia, Microcep...	ORPHA:1926
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Situs inversus totalis, Chronic sinusitis, Abdominal situs inversus, Dextrocardia	OMIM:619607
Ciliary Dyskinesia, Primary, 9	Situs inversus totalis, Chronic sinusitis, Recurrent sinusitis	OMIM:612444
Dextrocardia	Dextrocardia, Situs inversus totalis, Hydrocephalus, Abnormal renal morphology, Abnormality of th...	ORPHA:1666
Spondylocostal Dysostosis 4, Autosomal Recessive	Neurogenic bladder, Vertebral artery hypoplasia, Unilateral vertebral artery hypoplasia, Dextroca...	OMIM:613686
Ciliary Dyskinesia, Primary, 27	Situs inversus totalis, Chronic sinusitis, Recurrent sinusitis	OMIM:615504
Hypoglossia With Situs Inversus	Situs inversus totalis, Micrognathia	OMIM:612776
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hematuria, Patent ductus arteriosus, Overriding aorta, Ventricular septal defect	OMIM:617021
Bardet-Biedl Syndrome 17	Short fourth metatarsal, Dextrocardia, Polyuria, Situs inversus totalis, Stage 5 chronic kidney d...	OMIM:615994
Congenital Heart Defects, Multiple Types, 2	Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul...	OMIM:614980
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri...	ORPHA:1330
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec...	OMIM:306955
Fetal Minoxidil Syndrome	Ventricular septal defect, Micrognathia	ORPHA:1918
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran...	OMIM:217095
Aniridia 2	Aniridia, Iris coloboma, Cataract, Lens subluxation	OMIM:617141
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydrocephalus, Cerebellar hypoplasia, Holoprosencephaly, Cerebellar agenesis, Hydranencephaly, Da...	OMIM:617967
Congenital Heart Defects, Multiple Types, 9	Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl...	OMIM:620294
Mungan Syndrome	Vesicoureteral reflux, Perimembranous ventricular septal defect, Renal hypoplasia, Pulmonic stenosis	OMIM:611376
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Renal hypoplasia/aplas...	ORPHA:3186
Myopia 17, Autosomal Dominant	Presenile cataracts	OMIM:608367
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Agyria, Hypoplasia of the pyramidal tract, Hydrocephalus, Dilated cardiomyopathy, ...	OMIM:253800
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Short palm, Atrioventricular canal de...	ORPHA:508498
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary ...	OMIM:270100
Ciliary Dyskinesia, Primary, 35	Situs inversus totalis, Chronic sinusitis, Abdominal situs ambiguus	OMIM:617092
Bardet-Biedl Syndrome 18	Cataract	OMIM:615995
Ciliary Dyskinesia, Primary, 2	Situs inversus totalis, Sinusitis, Dextrocardia	OMIM:606763
Ciliary Dyskinesia, Primary, 28	Situs inversus totalis, Recurrent sinusitis	OMIM:615505
Acalvaria	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Ciliary Dyskinesia, Primary, 18	Situs inversus totalis, Abdominal situs ambiguus, Recurrent sinusitis	OMIM:614874
Cranioacrofacial Syndrome	Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Meckel Syndrome, Type 4	Encephalocele, Agenesis of cerebellar vermis, Ventricular septal defect, Microcephaly, Hydrocepha...	OMIM:611134
Distal Monosomy 7Q36	Hypoplasia of penis, Microcephaly, Holoprosencephaly, Micrognathia	ORPHA:1636
Mental retardation, x-linked, syndromic, Turner type	Holoprosencephaly, Macrocephaly	OMIM:300706
Adams-Oliver Syndrome 4	Ventricular septal defect, Short toe, Patent ductus arteriosus, Absent middle phalanx of the 3rd ...	OMIM:615297
Ciliary Dyskinesia, Primary, 32	Situs inversus totalis, Chronic sinusitis	OMIM:616481
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary...	OMIM:615067
Sonoda Syndrome	Ventricular septal defect	OMIM:270460
Ciliary Dyskinesia, Primary, 12	Situs inversus totalis, Chronic sinusitis	OMIM:612650
Vissers-Bodmer Syndrome	Decreased head circumference, Holoprosencephaly	OMIM:619033
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Cataract	OMIM:619082
Hyperferritinemia With Or Without Cataract	Nuclear cataract, Pulverulent cataract	OMIM:600886
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Renal agenesis, Ventricular septal defect, Micrognathia, Renal hypoplasia/aplasia, Microcephaly, ...	ORPHA:2516
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Situs inversus totalis, Primum atrial septal defect, Chronic sinusitis, Partial atrioventricular ...	OMIM:619608
Carnitine Palmitoyltransferase Ii Deficiency	Cerebellar vermis hypoplasia, Cerebral calcification, Polymicrogyria, Hydrocephalus, Red-brown ur...	ORPHA:157
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, Cerebellar vermis hypoplasia, Cerebral calcification,...	ORPHA:228308
Nemaline Myopathy 9	Ventricular septal defect, Micrognathia	OMIM:615731
Eng-Strom Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:1937
Renal-Hepatic-Pancreatic Dysplasia 1	Renal insufficiency, Situs inversus totalis, Pancreatic cysts, Patent ductus arteriosus, Ureteral...	OMIM:208540
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Double outlet left ventricle, Ventricular septal defect, Microcephaly, Pate...	OMIM:600001
Joubert Syndrome 18	Occipital encephalocele, Agenesis of cerebellar vermis, Ventricular septal defect, Renal cyst, Ho...	OMIM:614815
Atrial Septal Defect 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept...	OMIM:607941
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Hypospadias, Absent septum pellucidum, Microcephaly,...	OMIM:309801
Myopia 28, Autosomal Recessive	Cataract	OMIM:619781
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Abnormal t...	ORPHA:1354
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	Occipital encephalocele, Polycystic kidney dysplasia	OMIM:615397
Ciliary Dyskinesia, Primary, 26	Situs inversus totalis, Recurrent sinusitis	OMIM:615500
Cardiomyopathy, Dilated, 1S	Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio...	OMIM:613426
Cataract 20, Multiple Types	Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract	OMIM:116100
Ciliary Dyskinesia, Primary, 14	Situs inversus totalis, Heterotaxy, Chronic sinusitis	OMIM:613807
Meckel Syndrome 14	Microretrognathia, Occipital encephalocele, Micrognathia, Holoprosencephaly, Polycystic kidney dy...	OMIM:619879
Scimitar Syndrome	Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa...	ORPHA:185
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Crossed fused renal ectopia, Ventricular septal defect, Hypoplastic right heart, Unilateral renal...	OMIM:618142
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Aortic Aneurysm, Familial Thoracic 4	Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Bi...	OMIM:132900
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Leber Congenital Amaurosis 7	Keratoconus, Cataract	OMIM:613829
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va...	ORPHA:216694
Lethal Congenital Contracture Syndrome 10	Micrognathia, Overriding aorta, Ventricular septal defect, Cardiomegaly	OMIM:617022
Femoral-Facial Syndrome	Short femur, Micrognathia, Renal hypoplasia/aplasia, Long penis, Abnormal localization of kidney,...	ORPHA:1988
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Situs inversus totalis, Recurrent sinusitis	OMIM:620197
Cataract 17, Multiple Types	Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract	OMIM:611544
Peroxisome Biogenesis Disorder 3A (Zellweger)	Vascular dilatation, Polycystic kidney dysplasia	OMIM:614859
Congenital Disorder Of Glycosylation, Type Iie	Neurogenic bladder, Micrognathia, Secundum atrial septal defect, Cerebral atrophy, Perimembranous...	OMIM:608779
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hypoplasia of penis, Hypospadias, Hypoplasia of the premaxilla, Renal hypoplasia/a...	ORPHA:2166
8P23.1 Duplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Pulmonic stenosis	ORPHA:251076
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:617992
Maternal Phenylketonuria	Ventricular septal defect, Micrognathia, Microcephaly, Abnormal renal morphology, Abnormal heart ...	ORPHA:2209
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Bicuspid aortic valve, Hydrocephalus, Cerebral atrophy, Secondary microcephaly, Hypoplasia of the...	ORPHA:397951
Pagod Syndrome	Encephalocele, Multicystic kidney dysplasia, Spina bifida, Microcephaly, Situs inversus totalis, ...	ORPHA:991
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Bicuspid aortic valve, Pseudocoarctation of the aorta, Short toe, Patent ductus arteriosus, Short...	OMIM:604381
Ciliary Dyskinesia, Primary, 22	Situs inversus totalis, Dextrocardia, Recurrent sinusitis	OMIM:615444
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Ventricular septal defect, Ectopic kidney, Secondary microcephaly, Cerebellar hypoplasia, Cystic ...	OMIM:613730
Hadziselimovic Syndrome	Ventricular hypertrophy, Ventricular septal defect, Microcephaly, Renal hypoplasia, Cerebellar hy...	OMIM:612946
Fetal Trimethadione Syndrome	Ventricular septal defect, Hypospadias, Micrognathia, Microcephaly, Transposition of the great ar...	ORPHA:1913
Phelan-Mcdermid Syndrome	Ventricular septal defect, Abnormality of the kidney, Micrognathia, Microcephaly, Patent ductus a...	OMIM:606232
Holoprosencephaly 11	Agenesis of corpus callosum, Holoprosencephaly, Microcephaly	OMIM:614226
Coats Disease	Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology	ORPHA:190
Chromosome 9P Deletion Syndrome	Ventricular septal defect, Hypospadias, Micrognathia, Patent ductus arteriosus, Perimembranous ve...	OMIM:158170
Congenital Gerbode Defect	Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu...	ORPHA:99095
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Ventricular septal defect, Optic nerve hypoplasia, Micrognathia, Microceph...	OMIM:301043
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta, Short 5th metaca...	ORPHA:228190
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Hydroureter, Ventricular septal defect, Dextrocardia, Abnormal heart v...	ORPHA:289
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Mesoaxial Hexadactyly And Cardiac Malformation	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis	OMIM:249670
Laubry-Pezzi Syndrome	Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu...	ORPHA:99094
Odontochondrodysplasia 1	Delayed eruption of teeth, Relative macrocephaly, Short metacarpal, Micromelia, Macrocephaly, Pol...	OMIM:184260
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Overriding aorta, Ventricular septal defect, Ab...	OMIM:101200
Holoprosencephaly-Caudal Dysgenesis Syndrome	Renal insufficiency, Holoprosencephaly, Abnormal cerebral vascular morphology, Microcephaly	ORPHA:2165
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus arteriosus, Part...	OMIM:619657
Short-Rib Thoracic Dysplasia 12	Natal tooth, Hypoplastic scapulae, Ventricular septal defect, Short toe, Patent ductus arteriosus...	OMIM:269860
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect, Micrognathia	OMIM:608227
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominence of the premaxilla, Microcephaly, Patent ductus arteriosus, Hydrocephalus, Cerebral atr...	OMIM:614886
Joubert Syndrome	Encephalocele, Cerebellar vermis hypoplasia, Situs inversus totalis, Hydrocephalus, Aplasia/Hypop...	ORPHA:475
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cerebellar vermis hypoplasia, Aplastic clavicle, Micromelia, Hydrocephalus, Anencephaly, Hypoplas...	OMIM:616546
Catel-Manzke Syndrome	Atrial septal defect, Malar flattening, Ventricular septal defect, Micrognathia	ORPHA:1388
Beaulieu-Boycott-Innes Syndrome	Recurrent urinary tract infections, Ventricular septal defect, Unilateral renal agenesis, Microgn...	OMIM:613680
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Halperin-Birk Syndrome	Semilobar holoprosencephaly, Perimembranous ventricular septal defect, Agenesis of corpus callosu...	OMIM:618651
Cataract 41	Nuclear cataract	OMIM:116400
Cataract, Age-Related Nuclear	Nuclear cataract	OMIM:601371
Cataract 18	Nuclear cataract	OMIM:610019
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect, Microcephaly	ORPHA:2515
Retinitis Pigmentosa 40	Cataract	OMIM:613801
Verheij Syndrome	Renal agenesis, Ventricular septal defect, Optic nerve hypoplasia, Microcephaly, Renal hypoplasia...	OMIM:615583
Cataract 39, Multiple Types	Lamellar cataract, Anterior polar cataract, Developmental cataract	OMIM:615188
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Duplicated collecting system, Ventricular septal defect, Hypospadias, Optic nerve hypoplasia, Mic...	OMIM:301056
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Ventricular septal defect, Microcephaly, Partial agenesis of the corpus call...	OMIM:617478
16P13.11 Microduplication Syndrome	Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept...	ORPHA:261243
Thomas Syndrome	Multicystic kidney dysplasia, Hypoplastic left heart, Renal hypoplasia/aplasia	ORPHA:3316
Ciliary Dyskinesia, Primary, 19	Situs inversus totalis, Recurrent sinusitis	OMIM:614935
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Ventricular septal defect, Hypospadias, Renal agenesis, Microcephaly, Abse...	OMIM:301040
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Ventricular septal defect, Cerebral atrophy	ORPHA:306550
Bardet-Biedl Syndrome 19	Renal insufficiency, Ventricular septal defect, Partial atrioventricular canal defect, Patent duc...	OMIM:615996
Cataract 2, Multiple Types	Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c...	OMIM:604307
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis...	OMIM:610205
Ciliary Dyskinesia, Primary, 15	Situs inversus totalis, Chronic sinusitis	OMIM:613808
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Ciliary Dyskinesia, Primary, 5	Situs inversus totalis, Recurrent sinusitis	OMIM:608647
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Ureteral duplication, Renal insufficiency, Intracerebral periventricular calcifi...	OMIM:608836
Dandy-Walker Malformation With Postaxial Polydactyly	Microretrognathia, Agenesis of cerebellar vermis, Posterior fossa cyst at the fourth ventricle, V...	OMIM:220220
Rhizomelic Syndrome	Microcephaly, Rhizomelia, Pulmonic stenosis, Micrognathia	OMIM:268250
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Cerebellar vermis hypoplasia, Micrognathia, Epispadias, Partial agenesis...	OMIM:615948
Thanatophoric Dysplasia, Glasgow Variant	Cataract	OMIM:273680
Orofaciodigital Syndrome I	Microretrognathia, Proteinuria, Abnormal cortical gyration, Microcephaly, Pancreatic cysts, Cario...	OMIM:311200
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Ventricular septal defect, Hypospadias, Parachute mitral valve, Patent ductus arteriosus, Macroce...	OMIM:618316
Double Outlet Right Ventricle	Ventricular septal defect, Double outlet right ventricle, Coarctation of aorta, Heterotaxy, Hypop...	ORPHA:3426
Ventricular Septal Defect 3	Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect	OMIM:614432
Microform Holoprosencephaly	Hypoplasia of penis, Renal agenesis, Microcephaly, Holoprosencephaly, Tetralogy of Fallot, Agenes...	ORPHA:280200
Fumarase Deficiency	Relative macrocephaly, Bilateral fetal pyelectasis, Increased urine succinate level, Microcephaly...	OMIM:606812
Aniridia And Absent Patella	Aniridia, Cataract	OMIM:106220
Spinal Muscular Atrophy, Type I	Atrial septal defect, Ventricular septal defect	OMIM:253300
Congenital Disorder Of Glycosylation, Type Ih	Patent ductus arteriosus, Perimembranous ventricular septal defect	OMIM:608104
Aortic Valve Disease 3	Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A...	OMIM:618496
Mosaic Variegated Aneuploidy Syndrome	Multicystic kidney dysplasia, Aplasia/Hypoplasia of the cerebellum, Micrognathia, Microcephaly, A...	ORPHA:1052
Monosomy 18P	Carious teeth, Microcephaly, Holoprosencephaly, Micrognathia	ORPHA:1598
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Dilatation of the cerebral artery, Hepatic cysts, Polycystic kidney dysplasia	OMIM:600666
Pellagra-Like Syndrome	Cataract	OMIM:260650
Pallister-Hall Syndrome	Renal dysplasia, Natal tooth, Hydroureter, Ventricular septal defect, Distal urethral duplication...	OMIM:146510
Meckel Syndrome	Encephalocele, Ureteral duplication, Multicystic kidney dysplasia, Micrognathia, Situs inversus t...	ORPHA:564
Ciliary Dyskinesia, Primary, 1	Situs inversus totalis, Communicating hydrocephalus, Chronic sinusitis, Absent frontal sinuses	OMIM:244400
Leber Congenital Amaurosis 6	Keratoconus, Cataract	OMIM:613826
22Q11.2 Duplication Syndrome	Ventricular septal defect, Micrognathia, Microcephaly, Urethral stenosis, Hypoplastic left heart,...	ORPHA:1727
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Cataract	ORPHA:2278
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Periventricular leukomalacia, Ventricular septal defect, Microcephaly	ORPHA:357225
Hypoplastic Left Heart Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta	OMIM:241550
Aniridia 3	Aniridia, Cataract	OMIM:617142
Kyrle Disease	Posterior subcapsular cataract	OMIM:149500
Cataract 43	Posterior subcapsular cataract	OMIM:616279
Cataract 30, Multiple Types	Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract	OMIM:116300
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Joubert Syndrome 39	Occipital encephalocele, Cerebellar vermis hypoplasia, Hypoplastic left heart, Polycystic kidney ...	OMIM:619562
Chromosome 1Q41-Q42 Deletion Syndrome	Holoprosencephaly, Ventricular septal defect, Cerebellar hypoplasia, Microcephaly	OMIM:612530
Isolated Aniridia	Aniridia, Cataract, Peters anomaly	ORPHA:250923
Microphthalmia, Isolated, With Coloboma 5	Holoprosencephaly	OMIM:611638
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corp...	ORPHA:2182
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Ventricular septal defect, Spina bifida, Anencephaly, Aplasia/Hypoplasia of the radius, Hypoplast...	ORPHA:2476
14Q11.2 Microdeletion Syndrome	Patent ductus arteriosus, Ventricular septal defect, Micrognathia	ORPHA:261120
16P13.11 Microdeletion Syndrome	Ventricular septal defect, Microcephaly, Holoprosencephaly, Atrial septal defect, Agenesis of cor...	ORPHA:261236
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Situs inversus totalis	OMIM:615434
Oculoauriculofrontonasal Syndrome	Encephalocele, Pericallosal lipoma, Ventricular septal defect, Microcephaly, Micrognathia, Macroc...	ORPHA:398156
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Peroxisome Biogenesis Disorder 2A (Zellweger)	Aminoaciduria, Micrognathia, Polycystic kidney dysplasia, Abnormal heart morphology	OMIM:214110
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Iris coloboma	OMIM:120433
Hartsfield Syndrome	Encephalocele, Aplasia/Hypoplasia of the radius, Lobar holoprosencephaly, Aplasia/Hypoplasia of t...	ORPHA:2117
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Micrognathia, Short thumb, Patent ductus arte...	OMIM:612561
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cerebellar vermis hypoplasia, Micromelia, Micrognathia, Partial agenesis of the corpus callosum, ...	OMIM:210710
Jacobsen Syndrome	Ventricular septal defect, Hypospadias, Missing ribs, Micrognathia, Microcephaly, Hydrocephalus, ...	OMIM:147791
Leukoencephalopathy With Vanishing White Matter 2	Cataract	OMIM:620312
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Micromelia, Micrognathia, Missing ribs, Hydrocephalus, Short ribs, Polycystic kidney dysplasia, H...	OMIM:617866
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Lacticaciduria, Abnormal heart morphology, Cardiomyopathy, 3-Methylglutaric ac...	ORPHA:26791
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp...	ORPHA:860
Craniofacial Dyssynostosis With Short Stature	Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Hydrocephalus, Horseshoe kidney...	OMIM:218350
Periventricular Nodular Heterotopia 1	Bicuspid aortic valve, Cerebral hemorrhage, Patent ductus arteriosus, Stroke, Cerebellar hypoplas...	OMIM:300049
Microphthalmia, Syndromic 12	Hypoplastic left atrium, Ventricular septal defect, Retrognathia, Micrognathia	OMIM:615524
Grange Syndrome	Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis, Short palm	ORPHA:79094
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Cerebellar hypoplasi...	OMIM:616276
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ...	OMIM:184705
Bardet-Biedl Syndrome 10	Renal insufficiency, Renal cyst	OMIM:615987
Trisomy 18	Microretrognathia, Ventricular septal defect, Abnormality of the upper urinary tract, Microcephal...	ORPHA:3380
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventricular septal defect, Megalencephaly, Hydrocephalus, Progressive macrocephaly, Cavum septum ...	OMIM:602501
Cochleosaccular Degeneration-Cataract Syndrome	Cataract	ORPHA:3233
Xk Aprosencephaly Syndrome	Atrial septal defect, Ventricular septal defect, Microcephaly	ORPHA:3469
49,Xxxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Abnormal dental enamel mor...	ORPHA:96264
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Microcephaly, Patent ductus arteri...	ORPHA:500159
Atrioventricular Septal Defect 5	Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart	OMIM:614474
Hypogonadism-Cataract Syndrome	Cataract	OMIM:240950
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome...	OMIM:618061
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Muscle-Eye-Brain Disease	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Cataract 48	Cataract	OMIM:618415
15Q11.2 Microdeletion Syndrome	Thick cerebral cortex, Ventricular septal defect, Microcephaly, Abnormal heart morphology, Coarct...	ORPHA:261183
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Cataract, Corneal dystrophy	ORPHA:1369
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Hyperparathyroidism 2 With Jaw Tumors	Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren...	OMIM:145001
Chromosome 3Q13.31 Deletion Syndrome	Micropenis, Agenesis of corpus callosum, Alobar holoprosencephaly	OMIM:615433
Lambert Syndrome	Aplasia/Hypoplasia of the cerebellum, Malar flattening, Ventricular septal defect, Hypospadias	ORPHA:1296
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr...	OMIM:108900
Charge Syndrome	Micrognathia, Secundum atrial septal defect, Hand monodactyly, Holoprosencephaly, Atrial septal d...	OMIM:214800
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph...	OMIM:616730
Hajdu-Cheney Syndrome	Hypospadias, Ventricular septal defect, Micrognathia, Absent frontal sinuses, Patent ductus arter...	OMIM:102500
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Renal dysplasia	OMIM:615993
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplasia of penis, Ventricular septal defect, Micromelia, Microcephaly, Hypoplastic left heart,...	ORPHA:2772
Renpenning Syndrome 1	Mandibular prognathia, Ventricular septal defect, Hypospadias, Phimosis, Situs inversus totalis, ...	OMIM:309500
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Delayed eruption of permanent teeth, Ventricular septal defect, Microcephaly	OMIM:618506
Catel-Manzke Syndrome	Short humerus, Short metacarpal, Overriding aorta, Ventricular septal defect, Dextrocardia, Short...	OMIM:616145
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op...	ORPHA:2334
Meckel Syndrome, Type 1	Hypoplasia of the bladder, Natal tooth, Occipital encephalocele, Renal agenesis, Micrognathia, Mi...	OMIM:249000
X-Linked Lissencephaly With Abnormal Genitalia	Hypoplasia of penis, Ventricular septal defect, Micrognathia, Microcephaly, Patent ductus arterio...	ORPHA:452
Prune Belly Syndrome	Multicystic kidney dysplasia, Recurrent urinary tract infections, Ventricular septal defect, Rena...	ORPHA:2970
Congenital Varicella Syndrome	Cataract	ORPHA:291
Ventriculomegaly With Cystic Kidney Disease	Renal insufficiency, Ventricular septal defect, Hydrocephalus, Tubular luminal dilatation, Renal ...	OMIM:219730
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Mandibular prognathia, Malar flattening, Ventricular septal defect, Aplasia/Hypoplasia of the dis...	ORPHA:94066
Peroxisome Biogenesis Disorder 8A (Zellweger)	Ventricular septal defect	OMIM:614876
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, ...	ORPHA:904
Holoprosencephaly	Encephalocele, Hypoplasia of penis, Ventricular septal defect, Abnormal pulmonary valve morpholog...	ORPHA:2162
Myopia, High, With Cataract And Vitreoretinal Degeneration	Cataract, Lens subluxation	OMIM:614292
Fanconi Anemia, Complementation Group O	Absent thumb, Short thumb, Hypoplasia of the radius, Stage 5 chronic kidney disease, Renal cyst, ...	OMIM:613390
Peroxisome Biogenesis Disorder 5A (Zellweger)	Hypospadias, Ventricular septal defect, Micrognathia, Renal cyst, Macrogyria, Agenesis of corpus ...	OMIM:614866
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Micrognathia, Microcephaly, Abnormal cardiac ventricle morphology, Patent ...	ORPHA:2306
Femoral-Facial Syndrome	Short third metatarsal, Short humerus, Short fourth metatarsal, Short fifth metatarsal, Renal age...	OMIM:134780
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph...	OMIM:618348
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
Smith-Lemli-Opitz Syndrome	Diffuse cerebral atrophy, Micromelia, Micrognathia, Partial agenesis of the corpus callosum, Rena...	OMIM:270400
22Q11.2 Deletion Syndrome	Micrognathia, Abnormal aortic arch morphology, Vesicoureteral reflux, Atrial septal defect, Hypos...	ORPHA:567
Aortic Valve Disease 2	Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarctation of aorta, Ascen...	OMIM:614823
Intellectual Developmental Disorder, Autosomal Recessive 73	Patent ductus arteriosus, Ventricular septal defect	OMIM:619717
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypoplastic scapulae, Hypospadias, Micromelia, Renal hypoplasia, Renal cyst, Short ribs, Polycyst...	OMIM:614091
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Micrognathia, Biparietal narrowing, Holoprosencephaly, Aplasia/Hypoplasia of...	ORPHA:818
Syndromic Diarrhea	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Renal hypoplasia, Abn...	ORPHA:84064
Li-Campeau Syndrome	Ventricular septal defect, Patent ductus arteriosus, Patellar hypoplasia, Atrial septal defect, M...	OMIM:619189
Cornea Guttata With Anterior Polar Cataracts	Anterior polar cataract	OMIM:121390
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
14Q24.1Q24.3 Microdeletion Syndrome	Ventricular septal defect, Ectopic kidney, Short thumb, Abnormal heart morphology, Atrial septal ...	ORPHA:401935
Emanuel Syndrome	Broad jaw, Recurrent urinary tract infections, Ventricular septal defect, Truncus arteriosus, Uni...	OMIM:609029
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Macrocephaly, Proximal tubulo...	OMIM:231680
Skraban-Deardorff Syndrome	Ventricular septal defect, Micrognathia, Right aortic arch, Hypoplasia of the corpus callosum, Hy...	OMIM:617616
Kahrizi Syndrome	Cataract, Iris coloboma	OMIM:612713
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Microcephaly, Lobar holoprosencephaly, Short femoral neck, Enamel agenesis, Tetralogy of Fallot	OMIM:614701
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Hypoplasia of penis, Ventricular septal defect, Aplasia/Hypoplasia of the...	ORPHA:2256
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic...	ORPHA:730
Hepatorenocardiac Degenerative Fibrosis	Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla...	OMIM:619902
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic cysts, Multipl...	OMIM:263200
Chromosome 13Q14 Deletion Syndrome	Ventricular septal defect, Absent septum pellucidum, Micrognathia, Patent foramen ovale, Holopros...	OMIM:613884
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Ventricular septal defect, Megalencephaly, Hydrocephalus, Thick corpus callosum, Vascular ring, H...	OMIM:603387
Absence Deformity Of Leg-Cataract Syndrome	Cataract	ORPHA:2310
Proboscis Lateralis	Aplasia/Hypoplasia of the maxilla, Ventricular septal defect, Optic nerve hypoplasia, Unilateral ...	ORPHA:141099
Kleefstra Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Renal insufficiency, Ventr...	ORPHA:261494
Floating-Harbor Syndrome	Hypoplasia of the maxilla, Renal cyst, Nephrocalcinosis, Atrial septal defect, Mesocardia, Short ...	ORPHA:2044
Say Syndrome	Microcephaly, Micrognathia, Proximal renal tubular acidosis, Cystic renal dysplasia, Short distal...	OMIM:181180
Cataract 32, Multiple Types	Anterior polar cataract	OMIM:115650
Polysyndactyly With Cardiac Malformation	Atrial septal defect, Ventricular septal defect, Hepatic cysts, Renal cyst	OMIM:263630
Endocrine-Cerebroosteodysplasia	Natal tooth, Hypospadias, Absent septum pellucidum, Micromelia, Micrognathia, Focal polymicrogyri...	OMIM:612651
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Polycystic ovaries, Coar...	ORPHA:371428
Stankiewicz-Isidor Syndrome	Ureteral duplication, Ventricular septal defect, Hypospadias, Micrognathia, Absent thumb, Short t...	OMIM:617516
Joubert Syndrome 14	Encephalocele, Cerebellar vermis hypoplasia, Ventricular septal defect, Agenesis of cerebellar ve...	OMIM:614424
Holoprosencephaly-Craniosynostosis Syndrome	Hypoplastic vertebral bodies, Microcephaly, Holoprosencephaly, Short distal phalanx of finger	ORPHA:2163
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao...	ORPHA:3400
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec...	ORPHA:1686
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Cerebellar vermis hypoplasia, Ventricular septal defect, Disproportionate shortening of the tibia...	OMIM:263520
Rubinstein-Taybi Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Aortic isthmus hypoplasia, Atrial septal defect, Spina b...	OMIM:180849
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Microcephaly, Sma...	OMIM:619980
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Cataract	OMIM:183800
Intellectual Developmental Disorder, Autosomal Dominant 48	Cerebellar vermis hypoplasia, Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Micr...	OMIM:617751
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Dextrocardia, Absent radius, Hydrocephalus, Urethral atresia, Isomerism, Transposi...	OMIM:314390
Distal Deletion 12Q	Ectopic kidney, Micrognathia, Microcephaly, Supernumerary tooth, Patent ductus arteriosus, Congen...	ORPHA:96149
Encephalocraniocutaneous Lipomatosis	Peripheral pulmonary artery stenosis, Ventricular septal defect, Cortical dysplasia, Porencephali...	OMIM:613001
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Hypoplasia of the pons, Cortical dysplasia, Simplified gyral pattern, Microphallus, Abnormal peri...	ORPHA:468631
Weill-Marchesani Syndrome	Short thumb, Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis	ORPHA:3449
Meacham Syndrome	Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial...	OMIM:608978
Vitreoretinal Degeneration, Snowflake Type	Cataract, Corneal guttata	OMIM:193230
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Cataract	OMIM:610156
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo...	OMIM:604169
Yuan-Harel-Lupski Syndrome	Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve, Aortic root aneu...	OMIM:616652
Ogden Syndrome	Microretrognathia, Global glomerulosclerosis, Peripheral pulmonary artery stenosis, Bicuspid aort...	OMIM:300855
Retinitis Pigmentosa 9	Cataract	OMIM:180104
Cataract 40	Nuclear cataract, Sutural cataract	OMIM:302200
Distal Deletion 15Q	Multicystic kidney dysplasia, Bicuspid aortic valve, Mitral atresia, Hypospadias, Micrognathia, D...	ORPHA:1596
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Microcephaly, Micrognathia, Hydrocephalus, Abnormal ca...	ORPHA:2075
3C Syndrome	Hypoplasia of penis, Ventricular septal defect, Abnormal mitral valve morphology, Hypospadias, Mi...	ORPHA:7
Cataract 24	Anterior polar cataract	OMIM:601202
Hypotonia, Infantile, With Psychomotor Retardation	Ventricular septal defect, Hypoplasia of the corpus callosum	OMIM:616816
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Cerebellar vermis hypoplasia, Ventricular septal defect, Proteinuria, Micrognathia, ...	OMIM:616901
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Cortical dysplasia, Chronic kidney disease, Stage...	ORPHA:805
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Global Developmental Delay With Or Without Impaired Intellectual Development	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Hypospadias	OMIM:618330
8Q12 Microduplication Syndrome	Atrial septal defect, Ventricular septal defect, Vesicoureteral reflux, Short foot	ORPHA:228399
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios...	ORPHA:284169
Branchiootorenal Syndrome 1	Renal malrotation, Unilateral renal agenesis, Renal steatosis, Abnormal cerebral morphology, Poly...	OMIM:113650
Aortic Arch Interruption	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,...	ORPHA:2299
Iniencephaly	Encephalocele, Rhizomelia, Renal agenesis, Spina bifida, Myelomeningocele, Absent vertebra, Anenc...	ORPHA:63259
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Ventricular septal defect, Hydronephrosis, Micrognathia	OMIM:607598
Noonan Syndrome 12	11 pairs of ribs, Tetralogy of Fallot, Ventricular septal defect	OMIM:618624
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Bicuspid aortic valve, Spina bifida, Short thumb, Patent ductus arteriosus, Anomalous pulmonary v...	ORPHA:1120
Leber Congenital Amaurosis 16	Cataract	OMIM:614186
Cataract 6, Multiple Types	Posterior polar cataract, Developmental cataract	OMIM:116600
Trisomy 1Q	Microretrognathia, Multicystic kidney dysplasia, Ventricular septal defect, Patent ductus arterio...	ORPHA:261344
Pontocerebellar Hypoplasia, Type 17	Microretrognathia, Cerebellar vermis hypoplasia, Ventricular septal defect, Secundum atrial septa...	OMIM:619909
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Cerebral atrophy, Suprav...	OMIM:618164
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma	ORPHA:1473
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Carious teeth, Multicystic kidney dysplasia, Macrocephaly	ORPHA:3270
46,Xx Sex Reversal 5	Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Urogenital sinu...	OMIM:618901
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Micrognathia, Hypodysplasia of the cor...	OMIM:257300
Holoprosencephaly, Semilobar, With Craniosynostosis	Hypoplastic vertebral bodies, Semilobar holoprosencephaly, Short distal phalanx of finger	OMIM:601370
Cardiac Valvular Dysplasia 1	Arteria lusoria, Pulmonary artery atresia, Atrial septal defect, Patent foramen ovale, Pulmonic s...	OMIM:212093
Congenital Disorder Of Glycosylation, Type Iil	Ventricular septal defect, Abnormal cortical gyration, Unilateral renal agenesis, Microcephaly, P...	OMIM:614576
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Ventricular septal defect, Micrognathia, Microcephaly, Nephrocalcinosis, Renal tubular acidosis, ...	OMIM:208085
Microcephaly-Capillary Malformation Syndrome	Ventricular septal defect, Hypoplasia of the maxilla, Vesicoureteral reflux, Simplified gyral pat...	OMIM:614261
Microphthalmia, Syndromic 9	Renal malrotation, Ventricular septal defect, Pulmonary artery atresia, Micrognathia, Patent duct...	OMIM:601186
Transketolase Deficiency	Increased level of ribose in urine, Ventricular septal defect, Abnormal coronary artery course, P...	ORPHA:488618
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma...	ORPHA:3092
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Microcephaly, Muscular ventricular se...	OMIM:612474
Intellectual Developmental Disorder, X-Linked 106	Bicuspid aortic valve, Hypospadias, Microcephaly	OMIM:300997
Intellectual Developmental Disorder, Autosomal Recessive 71	Micropenis, Ventricular septal defect, Unilateral renal agenesis, Macrocephaly	OMIM:618504
Usher Syndrome Type 3	Cataract, Astigmatism, Iris hypopigmentation	ORPHA:231183
X-Linked Intellectual Disability, Nascimento Type	Hypointensity of cerebral white matter on MRI, Ventricular septal defect, Hypospadias, Hypoplasia...	ORPHA:163956
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Cortical tubers, Polycystic kidney dysplasia	OMIM:600273
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Secondary microcephaly, Atrial...	OMIM:618652
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventricular septal defect, Microcephaly, Partial agenesis of the corpus callosum, Abnormal medull...	ORPHA:79243
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent urinary tract infections, Ventricular septal defect, Hypoplasia of the corpus callosum,...	OMIM:620210
Ring Chromosome 7 Syndrome	Mandibular prognathia, Hypospadias, Microcephaly, Situs inversus totalis, Small hand, Short 5th f...	ORPHA:1449
Intellectual Developmental Disorder, Autosomal Recessive 79	Ventricular septal defect, Short hallux	OMIM:620393
Charge Syndrome	Delayed eruption of teeth, Aortic arch aneurysm, Aplasia/Hypoplasia of the cerebellum, Microcepha...	ORPHA:138
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:614262
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Renal agenesis, Ventricular septal defect, Mic...	OMIM:220500
Bardet-Biedl Syndrome 2	Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve	OMIM:615981
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Absent septum pellucidum, Optic nerve hypoplasia, Absent thumb, Microc...	OMIM:609053
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus, Conotruncal defect, Micrognathia	OMIM:243440
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Renal insufficiency, Retinal arteriolar tortuosity, Renal cyst, Hematuria, Lacunar stroke, Dilata...	OMIM:611773
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Abnormal heart morphology, Polyc...	ORPHA:2237
Delpire-Mcneill Syndrome	Agenesis of corpus callosum, Cortical dysplasia, Ventricular septal defect	OMIM:619083
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect, Thin corpus callosum	OMIM:616277
Oculogastrointestinal Neurodevelopmental Syndrome	Bicuspid aortic valve, Horseshoe kidney, Microcephaly	OMIM:619318
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Lissencephaly, Secondary micr...	OMIM:612938
Chromosome 1P36 Deletion Syndrome, Proximal	Bicuspid aortic valve, Ventricular septal defect, Micrognathia, Microcephaly, Complete atrioventr...	OMIM:619343
Pentalogy Of Cantrell	Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Hypospadias, Renal age...	ORPHA:1335
Li-Ghorbani-Weisz-Hubshman Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Hypoplasia of the corp...	OMIM:618974
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
Adams-Oliver Syndrome 6	Truncus arteriosus, Ventricular septal defect, Renal hypoplasia, Foot oligodactyly	OMIM:616589
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Cerebellar vermis hypoplasia, Ventricular septal defect, Unilateral renal agenesis, Renal hypopla...	OMIM:618494
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect	OMIM:235750
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Short metacarpal, Ventricular septal defect, Micrognathia, Renal cyst, Horseshoe kidney, Abnormal...	ORPHA:166035
Arima Syndrome	Cerebellar vermis hypoplasia, Proteinuria, Polyuria, Agenesis of cerebellar vermis, Stage 5 chron...	OMIM:243910
Mosaic Trisomy 9	Hypoplasia of penis, Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Mi...	ORPHA:99776
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia, Cerebral calcification, Ventricular septal defect, Spina bifida, Mi...	ORPHA:1393
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, Cardiomegaly, Descendi...	ORPHA:91387
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho...	ORPHA:99050
Cataract 16, Multiple Types	Posterior polar cataract, Lenticonus, Developmental cataract	OMIM:613763
Townes-Brocks Syndrome 1	Multicystic kidney dysplasia, Renal insufficiency, Ventricular septal defect, Hypospadias, Urethr...	OMIM:107480
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Ventricular septal defect, Secondary microcephaly	ORPHA:3369
Isolated Cleft Lip	Situs inversus totalis, Supernumerary maxillary incisor	ORPHA:199302
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Agenesis of corpus callosum, Rhizomelia, Ventricular septal defect, Micrognathia	ORPHA:93267
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Atrial septal defect, Bicuspid aortic valve, Leukoencephalopathy	OMIM:617744
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Burn-Mckeown Syndrome	Mandibular prognathia, Ventricular septal defect, Unilateral renal agenesis, Micrognathia, Renal ...	OMIM:608572
Tetraamelia Syndrome 2	Microretrognathia, Ventricular septal defect, Micrognathia, Hypoplastic pulmonary veins, Micropen...	OMIM:618021
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract	OMIM:616722
Filippi Syndrome	Microcephaly, Ventricular septal defect, Serrated incisors	OMIM:272440
Wolcott-Rallison Syndrome	Renal insufficiency, Microcephaly, Chronic kidney disease, Atrial septal defect, Double outlet ri...	ORPHA:1667
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect	OMIM:617044
Holoprosencephaly 2	Aplasia of the premaxilla, Microcephaly, Alobar holoprosencephaly, Semilobar holoprosencephaly, C...	OMIM:157170
Emanuel Syndrome	Delayed eruption of teeth, Broad jaw, Ventricular septal defect, Truncus arteriosus, Unilateral r...	ORPHA:96170
Kallmann Syndrome-Heart Disease Syndrome	Renal agenesis, Anomalous origin of left coronary artery from the pulmonary artery, Dilated cardi...	ORPHA:2326
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Ventricular septal defect, Proteinuria, Microcephaly, Nephrocalcinosis, Renal tubular acidosis, A...	OMIM:613404
Joubert Syndrome 16	Encephalocele, Dandy-Walker malformation, Renal cyst, Nephronophthisis	OMIM:614465
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis	OMIM:126320
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Fibular hypoplasia, Short ribs, Polycystic kidney dysplasia, Absent tibia...	OMIM:613091
Lessel-Kreienkamp Syndrome	Bicuspid aortic valve, Patent ductus arteriosus, Dental malocclusion, Pulmonic stenosis, Atrial s...	OMIM:619149
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Aplasia/Hypoplasia of the lens, Cataract	ORPHA:1381
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Ventricular septal defect, Bicuspid aortic valve, Microcephaly, Partial absence of cerebellar ver...	ORPHA:329224
Cardiomyopathy, Dilated, 1Ii	Cataract	OMIM:615184
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Cerebellar vermis hypoplasia, Ventricular septal defect, Hydrocephalus, Chronic kidney disease, S...	OMIM:615630
Meckel Syndrome, Type 9	Limb undergrowth, Occipital encephalocele, Multicystic kidney dysplasia	OMIM:614209
Arachnoid Cyst	Encephalocele, Urinary incontinence, Subarachnoid hemorrhage, Posterior fossa cyst at the fourth ...	ORPHA:2356
Holt-Oram Syndrome	Ventricular septal defect, Absent thumb, Patent ductus arteriosus, Anomalous pulmonary venous ret...	ORPHA:392
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Holoprosencephaly 3	Malar flattening, Holoprosencephaly, Hydronephrosis, Microcephaly	OMIM:142945
Holoprosencephaly 1	Microcephaly, Alobar holoprosencephaly, Cerebellar hypoplasia, Micropenis, Ethmocephaly, Agenesis...	OMIM:236100
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Mandibular prognathia, Recurrent urinary tract infections, Ventricular septal defect, Hypospadias...	OMIM:619103
Noonan Syndrome 9	Hydroureter, Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta	OMIM:616559
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnorma...	ORPHA:2184
Congenital Alveolar Capillary Dysplasia	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres...	ORPHA:210122
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Galactose Mutarotase Deficiency	Cataract	ORPHA:570422
Holoprosencephaly 7	Hypoplasia of the premaxilla, Microcephaly, Alobar holoprosencephaly, Partial agenesis of the cor...	OMIM:610828
Cardiofacioneurodevelopmental Syndrome	Cerebellar vermis hypoplasia, Ventricular septal defect, Micrognathia, Microcephaly, Abdominal si...	OMIM:619123
Lissencephaly 9 With Complex Brainstem Malformation	Cerebellar vermis hypoplasia, Ventricular septal defect, Microcephaly, Hypoplasia of the pons, Hy...	OMIM:618325
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Short metacarpal, Ventricular septal defect, Micrognathia, Renal cyst, Horseshoe kidney, Macrocep...	OMIM:250410
Aase-Smith Syndrome I	Hydrocephalus, Ventricular septal defect, Dandy-Walker malformation	OMIM:147800
Campomelia, Cumming Type	Pancreatic cysts, Polycystic kidney dysplasia	OMIM:211890
Inverted Duplicated Chromosome 15 Syndrome	Tetralogy of Fallot, Ventricular septal defect, Unilateral renal agenesis, Microcephaly	ORPHA:3306
Distal Duplication 5Q	Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Hypospadias, Micrognathia, Absen...	ORPHA:96097
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Renal hypoplasia, Renal cyst, Ureteral agenesis, Hypoplasia of the brainstem, ...	OMIM:236500
Solitary Median Maxillary Central Incisor	Holoprosencephaly, Microcephaly	OMIM:147250
Methimazole Embryofetopathy	Abnormal aortic morphology, Ventricular septal defect, Hypospadias, Coarctation of aorta	ORPHA:1923
Serkal Syndrome	Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Ventricular septal defect, ...	ORPHA:139466
8P23.1 Microdeletion Syndrome	Hypospadias, Micrognathia, Microcephaly, Patent ductus arteriosus, Pulmonary artery stenosis, Hyp...	ORPHA:251071
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Diffuse cerebral atrophy, Micrognathia, Microcephaly, Perimembranous ventricular septal defect, M...	ORPHA:83617
Biliary, Renal, Neurologic, And Skeletal Syndrome	Secundum atrial septal defect, Aqueductal stenosis, Primum atrial septal defect, Inlet ventricula...	OMIM:619534
Sifrim-Hitz-Weiss Syndrome	Renal insufficiency, Ventricular septal defect, Patent ductus arteriosus, Vesicoureteral reflux, ...	OMIM:617159
Epidermal Nevus Syndrome	Polycystic kidney dysplasia, Aortic aneurysm	ORPHA:35125
Retinitis Pigmentosa 84	Cataract	OMIM:618220
Mandibulofacial Dysostosis With Alopecia	Hydroureter, Bicuspid aortic valve, Delayed eruption of primary teeth, Micrognathia, Hypoplasia o...	OMIM:616367
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology	ORPHA:3405
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:616898
Mosaic Trisomy 1	Microretrognathia, Cerebellar vermis hypoplasia, Ventricular septal defect, Renal cortical cysts,...	ORPHA:1692
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Absence of the sacrum, Microcephaly, Vesicoureteral reflux, Renal hypoplasia, Spinal dysraphism, ...	OMIM:617660
Holoprosencephaly 9	Hypoplasia of the premaxilla, Optic nerve hypoplasia, Abnormal cortical gyration, Hypoplasia of t...	OMIM:610829
15q26 overgrowth syndrome	Mandibular prognathia, Renal agenesis, Abnormality of the kidney, Micrognathia, Horseshoe kidney,...	DECIPHER:81
Severe X-Linked Intellectual Disability, Gustavson Type	Ventricular septal defect, Microcephaly, Micrognathia, Cerebellar hypoplasia, Vesicoureteral refl...	ORPHA:3078
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Tricuspid stenosis, Abnormality of the kidney, Micrognathia...	ORPHA:391641
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Baraitser-Winter Syndrome 1	Bicuspid aortic valve, Microcephaly, Patent ductus arteriosus, Retrognathia, Micropenis, Lissence...	OMIM:243310
Thoraco-Abdominal Enteric Duplication	Meningocele, Abnormal tricuspid valve morphology, Dextrocardia, Missing ribs	ORPHA:1759
Peroxisome Biogenesis Disorder 11B	Cataract	OMIM:614885
Blindness-Scoliosis-Arachnodactyly Syndrome	Cataract, Lens subluxation, Microphakia	ORPHA:171844
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Cerebral calcification, Ventricular septal ...	ORPHA:1782
Down Syndrome	Ventricular septal defect, Short middle phalanx of the 5th finger, Complete atrioventricular cana...	OMIM:190685
Fanconi Anemia, Complementation Group B	Renal agenesis, Ventricular septal defect, Absent thumb, Patent ductus arteriosus, Hydrocephalus,...	OMIM:300514
Roberts-Sc Phocomelia Syndrome	Micrognathia, Tetraphocomelia, Atrial septal defect, Phocomelia, Hyperplasia of the maxilla, Hypo...	OMIM:268300
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Isolated Polycystic Liver Disease	Multiple renal cysts, Vascular dilatation	ORPHA:2924
Peroxisome Biogenesis Disorder 6A (Zellweger)	Pachygyria, Renal cyst	OMIM:614870
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia...	ORPHA:40366
Cat Eye Syndrome	Ventricular septal defect, Renal agenesis, Micrognathia, Absent radius, Patent ductus arteriosus,...	OMIM:115470
Congenital Rubella Syndrome	Ventricular septal defect, Microcephaly, Patent ductus arteriosus, Atrial septal defect, Abnormal...	ORPHA:290
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short femur, Ventricular septal defect, Hypospadias, Cardiomegaly, Micrognathia, Microcephaly, Mi...	OMIM:616897
Brachydactyly, Type B1	Hypoplastic sacrum, Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of the ...	OMIM:113000
Weiss-Kruszka Syndrome	Ventricular septal defect, Bicuspid aortic valve, Dextrotransposition of the great arteries, Hypo...	OMIM:618619
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Nephropathy, Vascular dil...	OMIM:617056
Periventricular Nodular Heterotopia 7	Microretrognathia, Ventricular septal defect, Micrognathia, Cortical dysplasia, Hypoplasia of the...	OMIM:617201
Atrial Septal Defect 9	Secundum atrial septal defect, Bicuspid aortic valve	OMIM:614475
Developmental And Epileptic Encephalopathy 66	Cerebellar vermis hypoplasia, Ventricular septal defect, Dextrocardia, Atrial septal defect, Macr...	OMIM:618067
Seckel Syndrome 9	Recurrent urinary tract infections, Ventricular septal defect, Micrognathia, Microcephaly, Simpli...	OMIM:616777
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Frontal polymicrogyria, Cerebellar vermis hypoplasia, Ventricular septal defect, Cerebral calcifi...	OMIM:620024
Stickler Syndrome, Type V	Cataract	OMIM:614284
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplastic scapulae, Renal agenesis, Micrognathia, Missing ribs, Hypopla...	OMIM:200980
Combined Oxidative Phosphorylation Deficiency 11	Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Cardiomyopathy, Cerebr...	OMIM:614922
Right Pulmonary Artery, Anomalous Origin Of, Familial	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ...	OMIM:610338
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Ventricular septal defect, Microcephaly, Patent ductus arteriosus, Short ribs, Hypoplasia of the ...	ORPHA:2519
Genitourinary And/Or Brain Malformation Syndrome	Hypospadias, Absent septum pellucidum, Micrognathia, Dysplastic corpus callosum, Chordee, Seconda...	OMIM:618820
Isolated Ectopia Lentis	Ectopia pupillae, Cataract, Ectopia lentis	ORPHA:1885
Suleiman-El-Hattab Syndrome	Microretrognathia, Ventricular septal defect, Microcephaly, Atrial septal defect, Patent foramen ...	OMIM:618950
Carpenter Syndrome 1	Hydroureter, Ventricular septal defect, Micrognathia, Hypoplasia of the maxilla, Persistence of p...	OMIM:201000
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Ventricular septal defect, Aplasia/Hypoplasia of the cerebellar vermis, Pulmonary artery stenosis...	ORPHA:75389
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Mandibular prognathia, Bicuspid aortic valve, Microcephaly, Hypoplastic left heart, Macrocephaly,...	OMIM:619721
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	11 pairs of ribs, Cerebellar vermis hypoplasia, Ventricular septal defect, Micrognathia, Short di...	OMIM:620073
Coloboma, Ocular, Autosomal Recessive	Iris coloboma, Cataract, Lens subluxation	OMIM:216820
Noonan Syndrome 8	Relative macrocephaly, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, At...	OMIM:615355
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Renal dysplasia, Dandy-Walker malformation	ORPHA:3032
1Q41Q42 Microdeletion Syndrome	Holoprosencephaly	ORPHA:250999
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Ventricular septal defect, Microcephaly, Partial anomalous pulmonary venous return, Small hand, S...	OMIM:301044
Aortic Aneurysm, Familial Thoracic 12	Ascending tubular aorta aneurysm, Aortic root aneurysm, Ascending aortic dissection, Bicuspid aor...	OMIM:619825
Developmental Delay With Or Without Dysmorphic Facies And Autism	Cerebellar vermis hypoplasia, Ventricular septal defect, Micrognathia, Microcephaly, Patent ductu...	OMIM:618454
Carpenter Syndrome 2	Dextrocardia, Situs inversus totalis, Carious teeth, Patent ductus arteriosus, Dental malocclusio...	OMIM:614976
Chronic Atrial And Intestinal Dysrhythmia	Bicuspid aortic valve, Left atrial enlargement, Pulmonic stenosis	OMIM:616201
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Patent ductus arteriosus, Hypercalciuria,...	OMIM:615398
Cataract 23, Multiple Types	Lamellar cataract	OMIM:610425
Kapur-Toriello Syndrome	Hypoplasia of penis, Ventricular septal defect, Dysplastic corpus callosum, Patent ductus arterio...	ORPHA:2328
Schuurs-Hoeijmakers Syndrome	Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac septum morphology, Cerebellar h...	OMIM:615009
Hypomandibular Faciocranial Dysostosis	Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Atrial septal defect, Malar fl...	OMIM:241310
Squalene Synthase Deficiency	Bicuspid aortic valve, Hypospadias, Optic nerve hypoplasia, Micrognathia, Hypoplasia of the corpu...	OMIM:618156
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa...	ORPHA:99125
Sneddon Syndrome	Cerebral hemorrhage, Stroke, Bicuspid aortic valve, Ischemic stroke	OMIM:182410
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,...	OMIM:606519
Fanconi Anemia, Complementation Group N	Short thumb, Nephroblastoma, Ventricular septal defect, Microcephaly	OMIM:610832
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Ventricular septal defect, Persistence of primary teeth, Patent ductus arteriosus, Macrocephaly, ...	OMIM:619769
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Dextrocardia, Micrognathia, Abnormal heart morphology, Abnormal aor...	ORPHA:261197
Jansen-De Vries Syndrome	Short foot, Ventricular septal defect, Bicuspid aortic valve, Small hand	OMIM:617450
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Ventricular septal defect, Renal hypoplasia/apl...	ORPHA:2473
Fryns Syndrome	Multicystic kidney dysplasia, Hypospadias, Micrognathia, Abnormal aortic arch morphology, Abnorma...	ORPHA:2059
Primary Pulmonary Hypoplasia	Ureteral stenosis, Dextrocardia, Micrognathia, Secundum atrial septal defect, Microcephaly, Patel...	ORPHA:2257
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Microcephaly, Long penis, Mesomelic arm shortening...	ORPHA:3103
Frank-Ter Haar Syndrome	Ventricular septal defect, Micrognathia, Secundum atrial septal defect, Dental malocclusion, Mitr...	OMIM:249420
Microphthalmia, Syndromic 2	Delayed eruption of teeth, Ventricular septal defect, Dextrocardia, Hypospadias, Persistence of p...	OMIM:300166
Isolated Klippel-Feil Syndrome	Ventricular septal defect, Spina bifida, Renal hypoplasia/aplasia	ORPHA:2345
Cerebellar-Facial-Dental Syndrome	Ventricular septal defect, Micrognathia, Hypoplasia of the pons, Microcephaly, Dental malocclusio...	ORPHA:444072
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Micrognathia, Missing ribs, Hydrocephalus, Abnormality of the ureter, R...	ORPHA:1834
Cataracts, Spastic Paraparesis, And Speech Delay	Cataract	OMIM:619338
Kleefstra Syndrome Due To 9Q34 Microdeletion	Hypoplasia of penis, Renal insufficiency, Absent septum pellucidum, Microcephaly, Conotruncal def...	ORPHA:96147
Trisomy 13	Ventricular septal defect, Patent ductus arteriosus, Abnormality of the ureter, Multiple renal cy...	ORPHA:3378
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Microretrognathia, Ventricular septal defect, Microcephaly, Patent ductus arteriosus, Atrial sept...	ORPHA:457193
Thiamine-Responsive Megaloblastic Anemia Syndrome	Atrial septal defect, Stroke, Ventricular septal defect	ORPHA:49827
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect, Microcephaly	OMIM:609654
Pallister-Hall Syndrome	Microretrognathia, Natal tooth, Abnormal basal ganglia MRI signal intensity, Ventricular septal d...	ORPHA:672
Bardet-Biedl Syndrome 4	Abnormality of the kidney, Renal cyst	OMIM:615982
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Ureteropelvic junction obstruction, Duplicated collecting system, Delayed eruption of teeth, Vent...	OMIM:280000
Genitopatellar Syndrome	Delayed eruption of teeth, Multicystic kidney dysplasia, Micrognathia, Microcephaly, Patellar apl...	ORPHA:85201
Congenital Aortic Valve Stenosis	Thoracic aortic aneurysm, Aortic valve calcification, Aortic valve atresia, Endocarditis, Endocar...	ORPHA:3093
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Coronary artery aneurysm, Abnormal...	ORPHA:2041
Zellweger Syndrome	Multicystic kidney dysplasia, Ventricular septal defect, Hypospadias, Micrognathia, Microcephaly,...	ORPHA:912
3-Methylglutaconic Aciduria Type 7	Renal insufficiency, Renal cyst, Cerebral atrophy, Nephrocalcinosis, Cardiomyopathy, Abnormal bas...	ORPHA:445038
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Atrial septal defect, Micropenis, Patent ductus arteriosus, Ventricular septal defect	OMIM:613870
Isolated Exencephaly	Abnormal facial skeleton morphology, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Age...	ORPHA:563612
Thoracoabdominal Syndrome	Renal agenesis, Hypospadias, Patent ductus arteriosus, Hydrocephalus, Anencephaly, Transposition ...	OMIM:313850
Phaver Syndrome	Ventricular septal defect, Short thumb, Myelomeningocele, Hypoplastic aortic arch, Coarctation of...	ORPHA:2876
9Q31.1Q31.3 Microdeletion Syndrome	Mandibular prognathia, Bicuspid aortic valve, Dilated cardiomyopathy, Small hand, Renovascular hy...	ORPHA:401923
Aortic Aneurysm, Familial Thoracic 10	Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular...	OMIM:617168
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Mandibular prognathia, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Dilation of Virchow-R...	OMIM:619720
Neurodevelopmental Disorder With Language Delay And Seizures	Diffuse cerebral atrophy, Ventricular septal defect, Thin corpus callosum	OMIM:619908
Chromosome 6Pter-P24 Deletion Syndrome	Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Short 2nd toe, Agenesis of co...	OMIM:612582
Multifocal Atrial Tachycardia	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ...	ORPHA:3282
Familial Bicuspid Aortic Valve	Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, Ab...	ORPHA:402075
Pericardial And Diaphragmatic Defect	Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal defect,...	ORPHA:2847
Joubert Syndrome 7	Encephalocele, Stage 5 chronic kidney disease, Renal cyst, Hypoplasia of the brainstem, Nephronop...	OMIM:611560
Cardiofaciocutaneous Syndrome 3	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:615279
Short Stature-Micrognathia Syndrome	Rhizomelia, Ventricular septal defect, Micrognathia, Microcephaly, Micropenis, Retrognathia, Peno...	OMIM:617164
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Cerebral white matter atrophy, Ventricular septal defect, Micrognathia, Pa...	ORPHA:435638
Craniofacioskeletal Syndrome	Ventricular septal defect, Hypospadias, Micrognathia, Microcephaly, Patent ductus arteriosus, Hyp...	OMIM:300712
Aniridia-Absent Patella Syndrome	Aniridia, Cataract	ORPHA:1069
Pancreatic Agenesis-Holoprosencephaly Syndrome	Agenesis of corpus callosum, Hypoplasia of the zygomatic bone, Holoprosencephaly, Semilobar holop...	ORPHA:556955
Intellectual Developmental Disorder, Autosomal Dominant 47	Ventricular septal defect, Cerebral atrophy, Microcephaly	OMIM:617635
Hartsfield Syndrome	Hypospadias, Microcephaly, Alobar holoprosencephaly, Lobar holoprosencephaly, Micropenis, Agenesi...	OMIM:615465
Atelis Syndrome 1	Atrial septal defect, Carious teeth, Ventricular septal defect	OMIM:620184
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Microcephaly, Patent ductus arteriosus, Renal cyst, Coarctation of aorta, Hypoplasia of the corpu...	OMIM:617260
Heart And Brain Malformation Syndrome	Cerebellar vermis hypoplasia, Ventricular septal defect, Microcephaly, Cerebral atrophy, Hypoplas...	OMIM:616920
Coach Syndrome 1	Encephalocele, Occipital encephalocele, Cerebellar vermis hypoplasia, Unilateral renal agenesis, ...	OMIM:216360
Neurooculorenal Syndrome	Cerebellar vermis hypoplasia, Micrognathia, Hypoplasia of the pons, Aqueductal stenosis, Partial ...	OMIM:620305
Insulin-Like Growth Factor I, Resistance To	Ventricular septal defect, Micrognathia, Microcephaly, Small hand, Short foot, Short finger, Hypo...	OMIM:270450
Oligomeganephronia	Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal agenesis, Microgna...	ORPHA:2260
Hengel-Maroofian-Schols Syndrome	Bicuspid aortic valve, Thin corpus callosum, Cerebral atrophy, Microcephaly	OMIM:619641
Donnai-Barrow Syndrome	Macrocephaly, Ventricular septal defect, Aplasia/Hypoplasia of the corpus callosum, Proteinuria	ORPHA:2143
Roifman Syndrome	Noncompaction cardiomyopathy, Short metacarpal, Ventricular septal defect, Microcephaly, Short toe	OMIM:616651
Loeys-Dietz Syndrome 1	Bicuspid aortic valve, Micrognathia, Arterial tortuosity, Descending thoracic aorta aneurysm, Pat...	OMIM:609192
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Microretrognathia, Ventricular septal defect, Absent septum pellucidum, Micromelia, Patent ductus...	OMIM:618870
Diaphanospondylodysostosis	Myelomeningocele, Multiple renal cysts, Missing ribs	ORPHA:66637
Warsaw Breakage Syndrome	Tetralogy of Fallot, Ventricular septal defect, Microcephaly	OMIM:613398
Czeizel-Losonci Syndrome	Dextrocardia, Spina bifida, Micrognathia, Myelomeningocele, Hydrocephalus, Ureteral agenesis, Abn...	ORPHA:2437
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Atrial septal defect, Atrioventricul...	OMIM:265380
15Q14 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect, Biparietal narrowing, Microcephaly	ORPHA:261190
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Ectopic kidney, Conical incisor, Short palm, Vesicoureteral reflux, Atrial septal defect, Pachygy...	OMIM:235510
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Ventricular septal defect, Partial agenesis of the corpus callosum, Patent ductus arteriosus, Age...	OMIM:620113
Cardiac Valvular Dysplasia, X-Linked	Bicuspid aortic valve, Short chordae tendineae of the tricuspid valve, Short chordae tendineae of...	OMIM:314400
Chromosome 5Q12 Deletion Syndrome	Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Atrial septal defect, Patent f...	OMIM:615668
Cerebrocostomandibular Syndrome	11 pairs of ribs, 10 pairs of ribs, Short humerus, Ventricular septal defect, Ectopic kidney, Mic...	OMIM:117650
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Recurrent urinary tract infections, Ventricula...	ORPHA:2438
Cantu Syndrome	Bicuspid aortic valve, Short hallux, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus...	OMIM:239850
Rere-Related Neurodevelopmental Syndrome	Cerebellar vermis hypoplasia, Ventricular septal defect, Hypospadias, Micrognathia, Abnormal hear...	ORPHA:494344
Trigonocephaly With Short Stature And Developmental Delay	Ventricular septal defect	OMIM:314320
Thakker-Donnai Syndrome	Communicating hydrocephalus, Ventricular septal defect, Transposition of the great arteries, Tetr...	ORPHA:1780
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Ventricular septal defect, Patent ductus arteriosus, Macrocephaly, Retrognathia, Agenesis of corp...	ORPHA:52055
Craniofaciofrontodigital Syndrome	Prominent superficial veins, Anomalous branches of internal carotid artery, Bicuspid aortic valve...	ORPHA:363705
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Ventricular septal defect, Renal hypoplasia/aplasia, Abnormality of the ureter, Polycystic ovarie...	ORPHA:1770
Peroxisome Biogenesis Disorder 11A (Zellweger)	Polymicrogyria, Multiple renal cysts, Renal cyst, Lissencephaly	OMIM:614883
Kagami-Ogata Syndrome	Ventricular septal defect, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Lim...	OMIM:608149
Cahmr Syndrome	Lamellar cataract	OMIM:211770
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Micrognathia, Ectopic kidney, Hydrocephalus, Coarctation of aorta, Sho...	ORPHA:268249
Vacterl/Vater Association	Occipital encephalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal ag...	ORPHA:887
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventricular septal defect, Hypospadias, Microcephaly, Cerebral atrophy, Hypoplasia of the corpus ...	OMIM:616449
Mandibulofacial Dysostosis, Guion-Almeida Type	Ventricular septal defect, Microcephaly, Micrognathia, Atrial septal defect, Malar flattening, Pr...	OMIM:610536
Morning Glory Disc Anomaly	Cataract	ORPHA:35737
Adams-Oliver Syndrome 1	Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Microcephaly, Pachygyria, Cortic...	OMIM:100300
Trichothiodystrophy 4, Nonphotosensitive	Ventricular septal defect, Microcephaly, Partial agenesis of the corpus callosum, Hypoplasia of t...	OMIM:234050
Giant Cell Arteritis	Renal insufficiency, Pericarditis, Vasculitis, Hematuria, Aortic dissection, Double outlet right ...	ORPHA:397
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Cerebellar vermis hypoplasia, Patent ductus arteriosus after premature birt...	OMIM:618460
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Bicuspid aortic valve, Unilateral renal agenesis, Absent thumb, Unilatera...	OMIM:614900
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Microcephaly, Micrognathia, Holoprosencephaly, Hypoplasia of the...	ORPHA:1587
Woolly Hair	Abnormal pupil morphology, Cataract	ORPHA:170
Char Syndrome	Ventricular septal defect, Persistence of primary teeth, No permanent dentition, Patent ductus ar...	ORPHA:46627
Timothy Syndrome	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Tetralogy of Fallot, Patent fo...	OMIM:601005
Stiff Skin Syndrome	Bicuspid aortic valve	OMIM:184900
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Renal cyst	OMIM:174050
Microtia-Anotia	Holoprosencephaly	OMIM:600674
Noonan Syndrome 2	Relative macrocephaly, Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defec...	OMIM:605275
Velocardiofacial Syndrome	Ventricular septal defect, Microcephaly, Retrognathia, Interrupted aortic arch, Pulmonary artery ...	OMIM:192430
C Syndrome	Short metacarpal, Ventricular septal defect, Micromelia, Micrognathia, Microcephaly, Patent ductu...	OMIM:211750
Pelger-Huet Anomaly	Ventricular septal defect, Upper limb undergrowth, Macrocephaly, Short 3rd metacarpal, Short 4th ...	OMIM:169400
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Microcephaly, Short toe, Paten...	ORPHA:464311
Pontocerebellar Hypoplasia, Type 8	Ventricular septal defect, Reduced cerebral white matter volume, Hypoplasia of the brainstem, Sec...	OMIM:614961
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Ventricular septal defect, Unilateral renal agenesis, Micrognath...	OMIM:154400
Noonan Syndrome 4	Ureteral duplication, Ventricular septal defect, Dental malocclusion, Pulmonic stenosis, Macrocep...	OMIM:610733
Diamond-Blackfan Anemia 7	Ventricular septal defect, Secundum atrial septal defect, Short thumb, Patent ductus arteriosus, ...	OMIM:612562
Genetic Hyperferritinemia Without Iron Overload	Cataract	ORPHA:254704
Beck-Fahrner Syndrome	Ventricular septal defect, Microcephaly, Cardiomegaly, Macrocephaly, Periventricular leukomalacia	OMIM:618798
Lateral Meningocele Syndrome	Neurogenic bladder, Ventricular septal defect, Bicuspid aortic valve, Micrognathia, Patent ductus...	OMIM:130720
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Ventricular septal defect, Microcephaly, Hypoplasia of the corpus callosum, Atrial septal defect,...	OMIM:617452
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, Hypoplastic left heart, Micrognathia	OMIM:618829
Keutel Syndrome	Pulmonary artery stenosis, Ventricular septal defect, Recurrent sinusitis, Short distal phalanx o...	ORPHA:85202
Tatton-Brown-Rahman Syndrome	Ventricular septal defect, Optic nerve hypoplasia, Vesicoureteral reflux, Encephalomalacia, Macro...	OMIM:615879
Robinow Syndrome	Micrognathia, Atrial septal defect, Webbed penis, Micropenis, Multicystic kidney dysplasia, Persi...	ORPHA:97360
Cardiac Valvular Dysplasia 2	Bicuspid aortic valve, Ascending tubular aorta aneurysm, Pulmonic stenosis, Subvalvular aortic st...	OMIM:620067
Chromosome 18Q Deletion Syndrome	Mandibular prognathia, Absence of the pulmonary valve, Ventricular septal defect, Hypospadias, Mi...	OMIM:601808
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Hydroureter, Ventricular septal defect, Bicuspid aortic valve, Micrognathia, Patent ductus arteri...	OMIM:610759
Cardiac-Urogenital Syndrome	Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Peri...	OMIM:618280
Codas Syndrome	Delayed eruption of teeth, Short metacarpal, Hydroureter, Ventricular septal defect, Abnormal den...	ORPHA:1458
Cerebellofaciodental Syndrome	Ventricular septal defect, Microcephaly, Hypoplasia of the pons, Dental malocclusion, Shortening ...	OMIM:616202
Dyrk1A-Related Intellectual Disability Syndrome	Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Microcephaly, Primary microcep...	ORPHA:464306
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent septum pellucidum, Microcephaly, Lobar holoprosencephaly, Hypoplasia of the zygomatic bone...	OMIM:618500
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Cataract, Iris coloboma, Corneal scarring	OMIM:212550
Retinitis Pigmentosa 89	Bicuspid aortic valve	OMIM:618955
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia	ORPHA:2091
Meckel Syndrome, Type 10	Occipital encephalocele, Hypospadias, Anencephaly, Renal cyst, Cerebellar hypoplasia, Micropenis,...	OMIM:614175
Alagille Syndrome	Hypoplasia of the ulna, Ventricular septal defect, Renal hypoplasia/aplasia, Micrognathia, Abnorm...	ORPHA:52
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Ventricular septal defect, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Atrial septal...	ORPHA:505237
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Total Anomalous Pulmonary Venous Return 1	Total anomalous pulmonary venous return, Dextrocardia	OMIM:106700
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom...	ORPHA:3427
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect	OMIM:214300
Tyshchenko Syndrome	Atrial septal defect, Ventricular septal defect, Hypoplasia of the corpus callosum, Pulmonic sten...	OMIM:615102
Desbuquois Syndrome	Ventricular septal defect, Small hand	ORPHA:1425
Microtia	Holoprosencephaly	ORPHA:83463
Trisomy X	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3375
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Cerebellar vermis hypoplasia, Micrognathia, Vesicoureteral reflux, Axial ma...	OMIM:274000
Woods Syndrome	Ventricular septal defect	OMIM:615236
19P13.3 Microduplication Syndrome	Microcephaly, Ventricular septal defect, Cerebral atrophy, Micrognathia	ORPHA:447980
Contractural Arachnodactyly, Congenital	Ventricular septal defect, Bicuspid aortic valve, Micrognathia, Patent ductus arteriosus, Mitral ...	OMIM:121050
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Ventricular septal defect, Micrognathia, Hypoplasia of the maxilla, Ascending tubular aorta aneur...	OMIM:309520
Loeys-Dietz Syndrome 4	Bicuspid aortic valve, Arterial tortuosity, Mitral valve prolapse, Ascending tubular aorta aneury...	OMIM:614816
Teebi Hypertelorism Syndrome 1	Natal tooth, Ventricular septal defect, Micrognathia, Small hand, Aortic root aneurysm, Atrial se...	OMIM:145420
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Relative macrocephaly, Ventricular septal defect, Micromelia, Hypoplasia of the radius, Short ribs	OMIM:617895
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Duplicated collecting system, Hydroureter, Renal agenesis, Microcephaly, Hypoplasia of the maxill...	OMIM:129900
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Bicuspid aortic valve, Micrognathia, Patent ductus arteriosus, Mitral valve prolapse, Hypoplasia ...	ORPHA:555877
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve...	OMIM:610168
Ritscher-Schinzel Syndrome 2	Relative macrocephaly, Ventricular septal defect, Patent ductus arteriosus, Pulmonary artery hypo...	OMIM:300963
Autosomal Recessive Polycystic Kidney Disease	Recurrent urinary tract infections, Renal insufficiency, Micrognathia, Pancreatic cysts, Oliguria...	ORPHA:731
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Ventricular septal defect, Microcephaly, Micrognathia, Patent ductus arteriosus, Atrial septal de...	OMIM:617061
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Microretrognathia, Mandibular prognathia, Dilation of Virchow-Robin spaces, Ventricular septal de...	OMIM:300998
Acrocardiofacial Syndrome	Hypoplasia of penis, Ventricular septal defect, Mitral stenosis, Hypospadias, Coarctation of aort...	ORPHA:2008
Rhyns Syndrome	Multicystic kidney dysplasia, Nephronophthisis	ORPHA:140976
Koolen-De Vries Syndrome	Ureteral duplication, Bicuspid aortic valve, Hypospadias, Abnormal dental enamel morphology, Micr...	ORPHA:96169
Mosaic Variegated Aneuploidy Syndrome 2	Rhizomelia, Ventricular septal defect, Micrognathia, Microcephaly, Coarctation of aorta, Subvalvu...	OMIM:614114
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Cerebral calcification, Microcephaly, Fetal megacystis, Short palm,...	ORPHA:73246
Opitz Gbbb Syndrome	Natal tooth, Ventricular septal defect, Hypospadias, Micrognathia, Aplasia/Hypoplasia of the cere...	ORPHA:2745
Duane-Radial Ray Syndrome	Renal malrotation, Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Renal agenes...	OMIM:607323
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Pancreatic cysts, Polycystic kidney dysplasia, Renal cyst	OMIM:610199
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Micrognathia, Patent ductus arteriosus, Hypercalciuria, Renal cyst, Abnormal heart morphology, Ne...	ORPHA:369837
Cornelia De Lange Syndrome 1	Delayed eruption of teeth, Ventricular septal defect, Hypospadias, Proteinuria, Ectopic kidney, M...	OMIM:122470
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Ventricular septal defect, Renal cyst, Mitral valve prolapse, Varicose veins, ...	OMIM:617107
Mosaic Trisomy 16	Ventricular septal defect, Hypospadias, Short thumb, Patent ductus arteriosus, Horseshoe kidney, ...	ORPHA:1708
Diamond-Blackfan Anemia 10	Ventricular septal defect, Micrognathia, Ectopic kidney, Patent ductus arteriosus, Malar flatteni...	OMIM:613309
Johanson-Blizzard Syndrome	Ventricular septal defect, Hypospadias, Urethrovaginal fistula, Microcephaly, Situs inversus tota...	OMIM:243800
Donnai-Barrow Syndrome	Ventricular septal defect, Proteinuria, Non-acidotic proximal tubulopathy, Partial agenesis of th...	OMIM:222448
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Natal tooth, Relative macrocephaly, Encephalocele, Rhizomelia, Patent ductus a...	OMIM:616300
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Micrognathia, Right ventricular dilatation, Atri...	OMIM:619472
Sotos Syndrome	Mandibular prognathia, Ventricular septal defect, Abnormality of the kidney, Muscular ventricular...	OMIM:117550
Holt-Oram Syndrome	Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Aplasia of the ulna, Secundum a...	OMIM:142900
Renal Agenesis	Renal insufficiency, Renal agenesis, Ventricular septal defect, Unilateral renal agenesis, Protei...	ORPHA:411709
Intellectual Developmental Disorder, Autosomal Dominant 66	Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra...	OMIM:619910
Recombinant 8 Syndrome	Ventricular septal defect, Abnormality of the kidney, Micrognathia, Patent ductus arteriosus, Pat...	ORPHA:96167
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Ventricular septal defect, Microcephaly, Thick corpus callosum, Macrocephaly, Hyperi...	OMIM:617798
Tuberous Sclerosis 1	Dental enamel pits, Cerebral calcification, Renal cyst, Cardiac rhabdomyoma, Hemimegalencephaly, ...	OMIM:191100
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Ventricular septal defect, Hypospadias, Microcephaly, Broad skull, Patent ductus arteriosus, Hydr...	ORPHA:163979
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Crossed fused renal ectopia, Renal agenesis, Absent septum pellucid...	ORPHA:2538
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Cerebellar vermis hypoplasia, Ventricular septal defect, Hypospadias, Micrognathia, Hypoplasia of...	OMIM:616975
Osteopathia Striata With Cranial Sclerosis	Natal tooth, Multicystic kidney dysplasia, Paranasal sinus hypoplasia, Ventricular septal defect,...	OMIM:300373
Diamond-Blackfan Anemia 5	Ventricular septal defect, Hypospadias	OMIM:612528
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Absent pulmonary artery, Coarct...	OMIM:600460
19Q13.11 Microdeletion Syndrome	Retrognathia, Ventricular septal defect, Hypospadias, Microcephaly	ORPHA:217346
Grange Syndrome	Bicuspid aortic valve, Carotid artery stenosis, Renovascular hypertension, Renal artery stenosis,...	OMIM:602531
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus, Pulmonic stenosis	OMIM:618223
Ogden Syndrome	Microretrognathia, Pulmonary artery stenosis, Ventricular septal defect, Cerebral atrophy	ORPHA:276432
Kapur-Toriello Syndrome	Ventricular septal defect, Short thumb, Patent ductus arteriosus, Abnormality of the urinary syst...	OMIM:244300
Myopathy With Extrapyramidal Signs	Ventricular septal defect, Hypoplastic anterior limbs of the internal capsule, Microcephaly, Peri...	OMIM:615673
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster...	OMIM:221900
Tetrasomy 9P	Micrognathia, Micropenis, Pachygyria, Patent foramen ovale, Dandy-Walker malformation, Amelogenes...	ORPHA:3310
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Ureteral duplication, Double outlet left ventricle, Ventricular septal defect, Patent foramen ova...	ORPHA:2255
Noonan Syndrome 10	Relative macrocephaly, Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Mitr...	OMIM:616564
Cooper-Jabs Syndrome	Malar flattening, Ventricular septal defect, Missing ribs	ORPHA:1488
Bohring-Opitz Syndrome	Ventricular septal defect, Micrognathia, Mesomelic/rhizomelic limb shortening, Microcephaly, Shor...	OMIM:605039
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Abnormal cerebral wh...	ORPHA:457279
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Ventricular septal defect, Patent ductus arteriosus, Macrocephaly, Retrognathia, Agenesis of corp...	OMIM:300472
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Ventricular septal defect, Hypospadias, Microcephaly, Cerebral atrophy, Ma...	ORPHA:464738
Costello Syndrome	Ventricular septal defect, Abnormal dental enamel morphology, Mitral valve prolapse, Pulmonic ste...	ORPHA:3071
2Q37 Microdeletion Syndrome	Short metacarpal, Multicystic kidney dysplasia, Microcephaly, Small hand, Macrocephaly, Short foo...	ORPHA:1001
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Ventricular septal defect, Dextrotransposition of the great arteries	OMIM:619995
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Broad jaw, Bicuspid aortic valve, Micrognathia, Abnormal cerebral white matter morphology, Hypopl...	OMIM:614501
Congenital Disorder Of Glycosylation, Type Ia	Pericarditis, Cerebellar vermis hypoplasia, Proteinuria, Olivopontocerebellar hypoplasia, Pericar...	OMIM:212065
19P13.12 Microdeletion Syndrome	Ventricular septal defect, Hypospadias, Aplasia/Hypoplasia of the cerebellar vermis, Microcephaly...	ORPHA:254346
Joubert Syndrome 35	Multicystic kidney dysplasia, Cerebellar vermis hypoplasia, Recurrent urinary tract infections, R...	OMIM:618161
Ulbright-Hodes Syndrome	Abnormal penis morphology, Short humerus, Short metacarpal, Micrognathia, Hypoplasia of the radiu...	ORPHA:3404
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Coffin-Siris Syndrome 7	Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve	OMIM:618027
Diamond-Blackfan Anemia 12	Ventricular septal defect	OMIM:615550
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Left ventricular hypertrop...	OMIM:615474
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology	ORPHA:369891
Meckel Syndrome, Type 2	Encephalocele, Meningocele, Anencephaly, Renal cyst, Dandy-Walker malformation	OMIM:603194
Congenital Heart Defects And Skeletal Malformations Syndrome	Ventricular septal defect, Hypospadias, Carious teeth, Coarctation of aorta, Aortic root aneurysm...	OMIM:617602
Hajdu-Cheney Syndrome	Ventricular septal defect, Mitral stenosis, Hypospadias, Micrognathia, Absent frontal sinuses, Hy...	ORPHA:955
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Atrial septal defect, Aortic root aneurysm, Ventricular septal defect	OMIM:301039
Chromosome 17Q12 Deletion Syndrome	Mandibular prognathia, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary...	OMIM:614527
Koolen-De Vries Syndrome	Recurrent urinary tract infections, Ventricular septal defect, Bicuspid aortic valve, Microcephal...	OMIM:610443
Chromosome 14Q11-Q22 Deletion Syndrome	Ventricular septal defect, Micrognathia, Microcephaly, Patent ductus arteriosus, Renal tubular ac...	OMIM:613457
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Chime Syndrome	Ventricular septal defect, Abnormality of the kidney, Aplastic clavicle, Supernumerary tooth, Tet...	ORPHA:3474
Chromosome 15Q25 Deletion Syndrome	Ventricular septal defect, Dextrocardia, Coronary artery fistula, Abnormal cardiac septum morphol...	OMIM:614294
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Meningocele, Biparietal narrowing, Renal cyst	ORPHA:2031
Ifap Syndrome 2	Keratitis, Keratoconjunctivitis sicca, Cataract	OMIM:619016
X Small Rings	Ventricular septal defect, Bicuspid aortic valve, Fetal pyelectasis, Upper limb undergrowth, Aort...	ORPHA:96201
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Ventricular septal defect, Micrognathia, Thyroid lymphangiectasia, Pancreatic lymphangiectasis, P...	OMIM:235255
Diaphragmatic Hernia 4, With Cardiovascular Defects	11 pairs of ribs, Ventricular septal defect, Optic nerve hypoplasia, Aortopulmonary collateral ar...	OMIM:620025
Transaldolase Deficiency	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ...	OMIM:606003
Alzahrani-Kuwahara Syndrome	Ventricular septal defect, Hypospadias, Coronary sinus enlargement, Micrognathia, Microcephaly, P...	OMIM:619268
Orotic Aciduria	Orotic acid crystalluria, Ventricular septal defect, Hematuria, Atrial septal defect, Oroticaciduria	OMIM:258900
Meckel Syndrome, Type 3	Occipital encephalocele, Multicystic kidney dysplasia, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Peroxisome Biogenesis Disorder 1A (Zellweger)	Ventricular septal defect, Hypospadias, Micrognathia, Patent ductus arteriosus, Aplasia/Hypoplasi...	OMIM:214100
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Hypoplasia of the bladder, Hydroureter, Bicuspid aortic valve, Valvular pulmonary stenosis, Spina...	OMIM:300707
Radio-Tartaglia Syndrome	Ventricular septal defect, Microcephaly, Micrognathia, Retrognathia, Agenesis of corpus callosum	OMIM:619312
Joubert Syndrome 20	Renal cyst	OMIM:614970
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Micrognathia, Ascending aorta hypoplasia, Subvalvular aortic stenosis, Mic...	OMIM:619503
Diamond-Blackfan Anemia 1	11 pairs of ribs, Ventricular septal defect, Tricuspid stenosis, Micrognathia, Absent thumb, Shor...	OMIM:105650
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Vater/Vacterl Association	Renal dysplasia, Occipital encephalocele, Ventricular septal defect, Hypospadias, Renal agenesis,...	OMIM:192350
Aniridia 1	Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,...	OMIM:106210
7Q11.23 Microduplication Syndrome	Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Micrognathia, Patent ductus ar...	ORPHA:96121
Goldberg-Shprintzen Syndrome	Ventricular septal defect, Microcephaly, Hypoplasia of the maxilla, Small hand, Hypoplasia of the...	OMIM:609460
Orofaciodigital Syndrome V	Ventricular septal defect, Microcephaly, Horseshoe kidney, Tetralogy of Fallot, Agenesis of corpu...	OMIM:174300
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Ventricular septal defect, Bicuspid aortic valve, Microcephaly, Vesicoureteral reflux, Abnormal h...	ORPHA:453499
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Ventricular septal defect, Microcephaly, Spina bifida occulta, Small cerebral cortex, Hypoplasia ...	OMIM:617360
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Septo-optic dysplasia, Missing ribs, Micrognathia, Hydrocephalus, A...	ORPHA:3301
Filippi Syndrome	Ventricular septal defect, Microcephaly	ORPHA:3255
Caroli Disease	Polycystic kidney dysplasia	ORPHA:53035
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Recurrent urinary tract infections, Ventricular septal defect, Microce...	OMIM:619229
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Ventricular septal defect, Abnormal dental enamel morphology, Spina...	ORPHA:2092
Alport Syndrome 2, Autosomal Recessive	Corneal erosion, Cataract, Anterior lenticonus	OMIM:203780
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	11 pairs of ribs, Communicating hydrocephalus, Multicystic kidney dysplasia, Agenesis of cerebell...	OMIM:615287
Chops Syndrome	Ventricular septal defect, Microcephaly, Patent ductus arteriosus, Anomalous pulmonary venous ret...	OMIM:616368
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal pulmonary ...	ORPHA:1507
Robinow Syndrome, Autosomal Dominant 3	Ventricular septal defect, Hypoplastic right heart, Micrognathia, Patent ductus arteriosus, Denta...	OMIM:616894
Harrod Syndrome	Multicystic kidney dysplasia, Hypospadias, Microcephaly, Dental malocclusion, Cerebral cortical a...	ORPHA:2115
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Cataract	OMIM:619649
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal right ventri...	ORPHA:500095
Meckel Syndrome, Type 5	Occipital encephalocele, Anencephaly, Renal cyst	OMIM:611561
Congenital Disorder Of Glycosylation, Type It	Ventricular septal defect, Micrognathia, Cardiomegaly, Dilated cardiomyopathy, Coarctation of aor...	OMIM:614921
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Ventricular septal defect, Hypospadias, Hypoplasia of the maxilla, Patent ductus arteriosus, Micr...	OMIM:106260
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t...	ORPHA:263479
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu...	ORPHA:107
Kury-Isidor Syndrome	Ventricular septal defect, Hydronephrosis	OMIM:619762
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Renal agenesis, Ventricular septal defect, Ectopic kidney, Absent t...	OMIM:227645
Opitz Gbbb Syndrome	Cerebellar vermis hypoplasia, Ventricular septal defect, Hypospadias, Microcephaly, Rectourethral...	OMIM:300000
Van Esch-O'Driscoll Syndrome	Ventricular septal defect, Microcephaly, Pulmonary artery stenosis, Spina bifida occulta, Retrogn...	OMIM:301030
Weill-Marchesani Syndrome 1	Ventricular septal defect, Hypoplasia of the maxilla, Broad skull, Patent ductus arteriosus, Pulm...	OMIM:277600
Diaphanospondylodysostosis	Nephrogenic rest, Micrognathia, Missing ribs, Nephroblastomatosis, Horseshoe kidney, Polymicrogyr...	OMIM:608022
Distal 22Q11.2 Microduplication Syndrome	Mandibular prognathia, Ventricular septal defect, Unilateral renal agenesis, Micrognathia, Microc...	ORPHA:261337
Alagille Syndrome 1	Duplicated collecting system, Hypoplasia of the ulna, Ventricular septal defect, Multiple small m...	OMIM:118450
Doors Syndrome	Increased urine alpha-ketoglutarate concentration, 11 pairs of ribs, Aplasia/Hypoplasia of the ph...	ORPHA:79500
Cystic Echinococcosis	Renal cyst, Abnormal heart morphology, Ovarian cyst, Membranous nephropathy, Hepatic cysts	ORPHA:400
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Vesicoureteral reflux, Atrial septal defect, Hypospadias, Supernumerary to...	ORPHA:353281
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Micrognathia, Ventricular septal defect, Abnormal heart morphology	ORPHA:404440
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly, Renal cyst, Horseshoe kidney, Aplasia of the...	OMIM:612284
Coffin-Siris Syndrome	Delayed eruption of teeth, Ventricular septal defect, Hypospadias, Microcephaly, Patent ductus ar...	ORPHA:1465
Fryns Syndrome	Microretrognathia, Ureteral duplication, Hypospadias, Ventricular septal defect, Renal agenesis, ...	OMIM:229850
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Microretrognathia, 11 pairs of ribs, Bicuspid aortic valve, Rhizomelia, Cardiomegaly, Micrognathi...	OMIM:245600
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Proteinuria, Myocarditis, Vasculitis, Sterile pyur...	ORPHA:2331
Mckusick-Kaufman Syndrome	Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia	OMIM:236700
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Cardiomegaly, Mi...	ORPHA:3472
King-Denborough Syndrome	Ventricular septal defect	OMIM:619542
Lymphedema-Distichiasis Syndrome	Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Varicose veins, Tetralogy of F...	OMIM:153400
Histiocytoid Cardiomyopathy	Ventricular septal defect, Cardiomegaly, Hydrocephalus, Renal cyst, Polycystic ovaries, Stroke-li...	ORPHA:137675
Robinow Syndrome, Autosomal Recessive 2	Relative macrocephaly, Mesomelia, Bicuspid aortic valve, Micrognathia	OMIM:618529
Brachytelephalangic Chondrodysplasia Punctata	Ventricular septal defect, Optic nerve hypoplasia, Hypoplasia of the maxilla, Patent ductus arter...	ORPHA:79345
Renal Hypoplasia, Bilateral	Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin...	ORPHA:97362
Jacobsen Syndrome	Multicystic kidney dysplasia, Ventricular septal defect, Spina bifida, Missing ribs, Short toe, C...	ORPHA:2308
Penile Agenesis	Urethral atresia, male, Ventricular septal defect, Hydroureter, Fetal pyelectasis, Bilateral rena...	ORPHA:49
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypoplasia of the bladder, Renal agenesis, Ventricular septal defect, Hypospadias, Pulmonary arte...	OMIM:611812
Joubert Syndrome 2	Encephalocele, Renal insufficiency, Agenesis of cerebellar vermis, Hydrocephalus, Renal cyst, Hyp...	OMIM:608091
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Ventricular septal defect, Nephrolithiasis, Intracranial hemorrhage	ORPHA:369929
Mosaic Trisomy 20	Ventricular septal defect, Abnormality of the kidney, Micrognathia, Dysplastic tricuspid valve, H...	ORPHA:1724
Coffin-Siris Syndrome 4	Ventricular septal defect, Mitral atresia, Microcephaly, Patent ductus arteriosus, Short phalanx ...	OMIM:614609
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Ventricular septal defect, Abnormal heart morphology	ORPHA:254534
16Q24.3 Microdeletion Syndrome	Ventricular septal defect, Optic nerve hypoplasia, Micrognathia, Dilated cardiomyopathy, Bipariet...	ORPHA:261250
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Ventricular septal defect, Coarctation of aorta, Agenesis of corpus callosum, Hypoplastic left he...	OMIM:618748
3Q29 Microduplication Syndrome	Macrocephaly, Ventricular septal defect, Biparietal narrowing, Microcephaly	ORPHA:251038
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Relative macrocephaly, Ventricular septal defect, Micrognathia, Microcephaly, Dental malocclusion...	ORPHA:251028
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Sinusitis, Ventricular septal defect, Renal hypoplasia/aplasia, Micrognathia, Hydrocephalus, Abno...	ORPHA:363700
Trisomy 10P	Abnormality of the kidney, Periventricular white matter hypodensities, Micrognathia, Short toe, S...	ORPHA:171929
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Micromelia, Renal hypoplasia/aplasia, Micrognathia,...	ORPHA:3015
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Ventricular septal defect, Micrognathia, Meningocele, Malar flattening	ORPHA:2789
Tuberous Sclerosis 2	Cerebral calcification, Absence of renal corticomedullary differentiation, Renal cyst, Cardiac rh...	OMIM:613254
Holoprosencephaly 4	Semilobar holoprosencephaly	OMIM:142946
Teebi-Shaltout Syndrome	Ureteral stenosis, Ventricular septal defect, Microcephaly, Horseshoe kidney, Aortic valve stenos...	OMIM:272950
Congenital Disorder Of Glycosylation, Type Iia	Mandibular prognathia, Ventricular septal defect, Microcephaly, Cerebellar hypoplasia, Macrocepha...	OMIM:212066
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Ventricular septal defect, Micrognathia, Pancreatic lymphangiectasis, Abnormal renal morphology, ...	ORPHA:1655
Distal Deletion 19P	Hypoplasia of the maxilla, Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve pr...	ORPHA:96129
Limb Body Wall Complex	Encephalocele, Ventricular septal defect, Abnormality of the kidney, Aplasia/hypoplasia involving...	ORPHA:2369
Alg9-Cdg	Microretrognathia, Hypoplasia of the bladder, Ventricular septal defect, Hepatic cysts, Ureteral ...	ORPHA:79328
Brain-Lung-Thyroid Syndrome	Ventricular septal defect, Hypospadias, Microcephaly, Megacystis, Vesicoureteral reflux, Agenesis...	ORPHA:209905
3Mc Syndrome 1	Ventricular septal defect, Microcephaly, Patent ductus arteriosus, Short foot, Short 5th finger, ...	OMIM:257920
Peters Plus Syndrome	Ureteral duplication, Micromelia, Micrognathia, Bicuspid pulmonary valve, Abnormal pulmonary vein...	ORPHA:709
Tbck-Related Intellectual Disability Syndrome	Mandibular prognathia, 11 pairs of ribs, Neurogenic bladder, Ventricular septal defect, Microceph...	ORPHA:488632
Gm1 Gangliosidosis	Mandibular prognathia, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morpho...	ORPHA:354
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617874
Congenital Disorder Of Glycosylation, Type Ib	Proximal tubulopathy, Lymphangiectasis, Renal cyst	OMIM:602579
Microphthalmia, Syndromic 3	Ventricular septal defect, Hypospadias, Optic nerve hypoplasia, Missing ribs, Microcephaly, Paten...	OMIM:206900
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Cerebellar vermis hypoplasia, Renal cyst, Short palm, Atrial septal defect...	OMIM:312870
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Pericardial effusion, Hypertrophic cardiomyopathy, Persistent left superior vena cava, Ventricula...	OMIM:618775
Spondylo-Ocular Syndrome	Ventricular septal defect	ORPHA:85194
8Q24.3 Microdeletion Syndrome	Micromelia, Bilateral renal hypoplasia, Vesicoureteral reflux, Atrioventricular canal defect, Pel...	ORPHA:508488
Kaufman Oculocerebrofacial Syndrome	Ventricular septal defect, Micrognathia, Carious teeth, Microcephaly, Coarctation of aorta, Hypop...	OMIM:244450
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cell carcinoma, Renal cyst	OMIM:135150
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ketonuria, Bicuspid aortic valve, Mitral atresia, Hypospadias, Micrognathia, Cerebellar vermis hy...	OMIM:220111
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Cerebellar vermis hypoplasia, Ventricular septal defect, Hypoplasia of the brainstem, Secondary m...	OMIM:619306
Caroli Syndrome	Abnormality of the kidney, Polycystic kidney dysplasia	ORPHA:480520
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Carious teeth, Dental malocclusion, Renal cyst	OMIM:615560
Codas Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Ventricular septal defect, Hypoplasia...	OMIM:600373
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ...	ORPHA:91495
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys...	OMIM:613795
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Relative macrocephaly, Peripheral pulmonary artery stenosis, Ventricular septal defect, Optic ner...	OMIM:617506
Distal 22Q11.2 Microdeletion Syndrome	Recurrent urinary tract infections, Ventricular septal defect, Microcephaly, Aortic aneurysm, Sho...	ORPHA:261330
Histiocytosis-Lymphadenopathy Plus Syndrome	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Mitral valve prolapse, Varicos...	OMIM:602782
D-Bifunctional Protein Deficiency	Cerebral dysmyelination, Micrognathia, Corpus callosum atrophy, Cortical dysplasia, Renal cyst, H...	OMIM:261515
Combined Oxidative Phosphorylation Deficiency 15	Ventricular septal defect, Microcephaly, Small hand, Ventricular septal hypertrophy, Abnormal cer...	OMIM:614947
Cohen Syndrome	Ventricular septal defect, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Mitral valve pr...	ORPHA:193
De Barsy Syndrome	Delayed eruption of teeth, Cerebellar vermis hypoplasia, Ventricular septal defect, Patent ductus...	ORPHA:2962
Craniofacial Microsomia 1	Occipital encephalocele, Multicystic kidney dysplasia, Ventricular septal defect, Renal agenesis,...	OMIM:164210
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Ventricular septal defect, Short ribs, Macrocephaly	OMIM:615503
Cranioectodermal Dysplasia 2	Renal insufficiency, Rhizomelia, Micrognathia, Patent ductus arteriosus, Retrognathia, Renal cyst...	OMIM:613610
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Multicystic kidney dysplasia, Cerebellar vermis hypoplasia, Renal insuff...	ORPHA:1454
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve...	ORPHA:95430
Joubert Syndrome 1	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Microcephaly, Renal cyst, Occipital ...	OMIM:213300
Weill-Marchesani Syndrome 2	Short metacarpal, Ventricular septal defect, Hypoplasia of the maxilla, Broad skull, Patent ductu...	OMIM:608328
Oculoauricular Syndrome	Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th...	OMIM:612109
Feingold Syndrome 1	Ventricular septal defect, Tricuspid stenosis, Micrognathia, Microcephaly, Short thumb, Short toe...	OMIM:164280
Diamond-Blackfan Anemia	Radial artery aplasia, Renal agenesis, Ventricular septal defect, Hypospadias, Micrognathia, Abse...	ORPHA:124
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Rhizomelia, Micrognathia, Pancreatic cysts, Microcephaly, Short toe, Short ...	OMIM:266920
Leigh Syndrome	Abnormal basal ganglia MRI signal intensity, Neuronal loss in basal ganglia, Ventricular septal d...	ORPHA:506
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, V...	ORPHA:373
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary...	ORPHA:79404
Hydrolethalus Syndrome 1	Ventricular septal defect, Hypospadias, Absent septum pellucidum, Micrognathia, Abnormal cortical...	OMIM:236680
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, Macrocephaly, Atrial sep...	ORPHA:26793
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Neoplasm of the heart, Multicystic kidney dysplasia, Hydroureter, Megacystis	ORPHA:2241
Schinzel-Giedion Syndrome	Delayed eruption of teeth, Hypospadias, Micrognathia, Abnormality of the ureter, Nephrolithiasis,...	ORPHA:798
Neu-Laxova Syndrome 1	Hydranencephaly, Ventricular septal defect, Renal agenesis, Micromelia, Micrognathia, Spina bifid...	OMIM:256520
Marshall-Smith Syndrome	Microretrognathia, Prominence of the premaxilla, Ventricular septal defect, Absent septum pelluci...	OMIM:602535
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Micrognathia, Vesicoureteral reflux, Atrial septal defect, Patent foramen ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Micrognathia, Vesicoureteral reflux, Atrial septal defect, Patent foramen ...	ORPHA:353277
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Relative macrocephaly, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, ...	OMIM:300967
1P36 Deletion Syndrome	11 pairs of ribs, Aortic arch aneurysm, Hypoplasia of penis, Abnormal heart valve morphology, Hyp...	ORPHA:1606
Keutel Syndrome	Sinusitis, Ventricular septal defect, Cerebral calcification, Short hallux, Short thumb, Shorteni...	OMIM:245150
Koolen-De Vries Syndrome Due To A Point Mutation	Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias...	ORPHA:363958
Trisomy 20P	Hypospadias, Abnormality of the kidney, Spina bifida, Micrognathia, Abnormality of the ureter, Ab...	ORPHA:261318
Myhre Syndrome	Mandibular prognathia, Ventricular septal defect, Microcephaly, Pericardial effusion, Hypoplasia ...	OMIM:139210
Congenital Tracheal Stenosis	Ventricular septal defect, Abnormality of the kidney, Ascending aorta hypoplasia, Patent ductus a...	ORPHA:141127
Enhanced S-Cone Syndrome	Cataract	OMIM:268100
2Q31.1 Microdeletion Syndrome	Ventricular septal defect, Micrognathia, Microcephaly, Short foot, Short palm, Atrial septal defe...	ORPHA:251014
Oculodentodigital Dysplasia	Mandibular prognathia, Neurogenic bladder, Cerebral calcification, Ventricular septal defect, Abn...	ORPHA:2710
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Ventricular septal defect, Hydrocephalus, Renal tubular acidosis, Macrocephaly, Peripheral pulmon...	OMIM:619575
Cutis Marmorata Telangiectatica Congenita	Multicystic kidney dysplasia, Micrognathia, Patent ductus arteriosus, Arterial stenosis, Arteriov...	ORPHA:1556
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Pericardial effusion, Pancreatic cysts, Abnormal lymphatic vessel morphology...	ORPHA:464329
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Ventricular septal defect, Bicuspid aortic valve, Optic nerve hypoplasia, Microcephaly, Dental ma...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Ventricular septal defect, Bicuspid aortic valve, Optic nerve hypoplasia, Microcephaly, Dental ma...	ORPHA:352665
Orofaciodigital Syndrome Type 14	Microretrognathia, Ventricular septal defect, Microcephaly, Epispadias, Supernumerary tooth, Part...	ORPHA:434179
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Ectopic kidney, Atrial septal defect, Pachygyria, Agenesis of corpus callo...	OMIM:607872
45,X/46,Xy Mixed Gonadal Dysgenesis	Hypospadias, Bicuspid aortic valve, Abnormality of the kidney, Micrognathia, Epispadias, Short me...	ORPHA:1772
Zttk Syndrome	Relative macrocephaly, Ventricular septal defect, Polyuria, Unilateral renal agenesis, Hypoplasia...	OMIM:617140
Bardet-Biedl Syndrome 6	Hypospadias, Renal cyst	OMIM:605231
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Ventricular septal defect, Micrognathia, Microcephaly, Patent ductus arteriosus, Atrial septal de...	ORPHA:3047
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Retrog...	ORPHA:261349
Trichothiodystrophy	Ventricular septal defect, Cerebral dysmyelination, Hypoplasia of mandible relative to maxilla, C...	ORPHA:33364
Loeys-Dietz Syndrome 5	Ventricular septal defect, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defec...	OMIM:615582
Omodysplasia 1	Short humerus, Rhizomelia, Ventricular septal defect, Micrognathia, Pulmonary artery stenosis, Fi...	OMIM:258315
Early Infantile Epileptic Encephalopathy	Diffuse cerebral atrophy, Ventricular septal defect, Microcephaly, Diffuse white matter abnormali...	ORPHA:1934
Meier-Gorlin Syndrome 7	Urethral stricture, Ventricular septal defect, Hypospadias, Aplasia/Hypoplasia of the patella, Co...	OMIM:617063
Noonan Syndrome 3	Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Pulmonic stenosis, Tr...	OMIM:609942
Ulnar-Mammary Syndrome	Hypoplasia of penis, Ventricular septal defect, Absent hand, Renal hypoplasia, Aplasia/Hypoplasia...	ORPHA:3138
Alveolar Echinococcosis	Abnormal pericardium morphology, Pancreatic cysts, Renal cyst, Abnormal bladder morphology, Hepat...	ORPHA:284
Axial Osteomalacia	Renal cyst	OMIM:109130
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ...	ORPHA:2973
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Duplicated collecting system, Relative macrocephaly, Ventricular septal defect, Pulmonic stenosis...	OMIM:607721
Genitopatellar Syndrome	Delayed eruption of teeth, Multicystic kidney dysplasia, Ventricular septal defect, Micrognathia,...	OMIM:606170
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Ventricular septal defect, Micrognathia, Microcephaly, Aplasia of the distal phalanx of the 5th t...	OMIM:608670
Fontaine Progeroid Syndrome	Mandibular prognathia, Atrial septal defect, Prominent superficial veins, Cerebellar vermis hypop...	OMIM:612289
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Recurrent urinary tract infections, Ventricular septal defect, Abnormal pulmonary valve morpholog...	ORPHA:268261
Rabson-Mendenhall Syndrome	Mandibular prognathia, Ventricular septal defect, Long penis, Nephrocalcinosis, Cardiomyopathy, A...	ORPHA:769
Mgat2-Cdg	Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Cerebellar hypopl...	ORPHA:79329
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Renal cyst, Hypoplasia of the brainstem, Short ribs, Hypo...	OMIM:615636
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Hypospadias, Micrognathia, Microcephaly, Patent ductus arteriosus, Sma...	ORPHA:444077
Paternal Uniparental Disomy Of Chromosome 6	Ventricular septal defect, Micrognathia, Cardiomegaly, Patent ductus arteriosus, Retrognathia	ORPHA:96191
Diets-Jongmans Syndrome	Ventricular septal defect, Hypospadias, Thick corpus callosum, Heterotaxy, Interrupted inferior v...	OMIM:618846
Lymphangioleiomyomatosis	Abnormal urinary color, Renal neoplasm, Hydrocephalus, Chylopericardium, Hematuria, Multiple rena...	ORPHA:538
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Multiple renal cysts, Limb undergrowth	ORPHA:1190
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Mandibular prognathia, Microretrognathia, Ventricular septal defect, Hypospadias, Microcephaly, D...	ORPHA:459070
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atrial septal defect, Ventricular septal defect	OMIM:610978
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Mandibular prognathia, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospa...	ORPHA:93111
Specc1L-Related Hypertelorism Syndrome	Ventricular septal defect, Ectopic kidney, Short toe, Patent ductus arteriosus, Atrial septal def...	ORPHA:1519
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Ventricular septal defect, Microcephaly	OMIM:178110
Orofaciodigital Syndrome Type 1	Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Abnormal dental enamel morphology...	ORPHA:2750
Kabuki Syndrome 1	Crossed fused renal ectopia, Ventricular septal defect, Micrognathia, Microcephaly, Hydrocephalus...	OMIM:147920
Trichohepatoenteric Syndrome 1	Hypospadias, Ventricular septal defect, Galactosuria, Pulmonic stenosis, Tetralogy of Fallot, Ren...	OMIM:222470
Williams-Beuren Syndrome	Bicuspid aortic valve, Nephrocalcinosis, Vesicoureteral reflux, Atrial septal defect, Micropenis,...	OMIM:194050
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Bicuspid aortic valve, Ventricular septal defect, Absent septum pellucidum, Anomalous origin of l...	ORPHA:438213
Degcags Syndrome	Micrognathia, Bilateral renal hypoplasia, Atrial septal defect, Agenesis of corpus callosum, Pate...	OMIM:619488
Larsen Syndrome	Short metacarpal, Ventricular septal defect, Short metatarsal, Atrial septal defect, Malar flatte...	OMIM:150250
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Ventricular septal defect, Urinary incontinence, Hypospadias, Renal agenesis,...	OMIM:619522
Kyphoscoliotic Ehlers-Danlos Syndrome	Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Micrognathia, Subdural hemorrhage, Blad...	ORPHA:536545
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,...	ORPHA:18
Townes-Brocks Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormal pulmonary valve morphology, Abnor...	ORPHA:857
Coffin-Siris Syndrome 1	Ectopic kidney, Partial agenesis of the corpus callosum, Atrial septal defect, Spina bifida occul...	OMIM:135900
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Ventricular septal defect, Micrognathia, Microcephaly, Right aortic arch, Cerebellar hypoplasia, ...	ORPHA:513456
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Urinary incontinence,...	ORPHA:261552
Campomelia, Cumming Type	Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts, Micromelia	ORPHA:1318
Digeorge Syndrome	Renal dysplasia, Renal insufficiency, Ventricular septal defect, Unilateral renal agenesis, Micro...	OMIM:188400
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Renal insufficiency, Proteinuria, Pancreatic cysts, Chronic kidney diseas...	OMIM:208500
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cerebral atrophy, Su...	ORPHA:261265
Combined Pituitary Hormone Deficiencies, Genetic Forms	Septo-optic dysplasia, Optic nerve hypoplasia, Absent septum pellucidum, Holoprosencephaly, Agene...	ORPHA:95494
Costello Syndrome	Renal insufficiency, Ventricular septal defect, Micrognathia, Hydrocephalus, Cerebral atrophy, Mi...	OMIM:218040
Mowat-Wilson Syndrome	Delayed eruption of teeth, Hypospadias, Ventricular septal defect, Abnormality of the kidney, Mic...	OMIM:235730
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Microretrognathia, Ventricular septal defect, Microcephaly, Hypoplasia of the corpus callosum, Ag...	OMIM:619418
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Urinary incontinence,...	ORPHA:261537
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Enamel hypoplasia, Ventricular septal defect	OMIM:243150
Hardikar Syndrome	Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Ventricular s...	OMIM:301068
Peters-Plus Syndrome	Ureteral duplication, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Conical incisor,...	OMIM:261540
Okamoto Syndrome	Ureteropelvic junction obstruction, Ventricular septal defect, Urinary incontinence, Microcephaly...	ORPHA:2729
Trichohepatoneurodevelopmental Syndrome	Ventricular septal defect, Microcephaly, Patent ductus arteriosus, Cerebral atrophy, Short foot, ...	OMIM:618268
Cranioectodermal Dysplasia 1	Short humerus, Bicuspid aortic valve, Rhizomelia, Renal magnesium wasting, Short toe, Chronic kid...	OMIM:218330
Arboleda-Tham Syndrome	Microretrognathia, Mandibular prognathia, Recurrent urinary tract infections, Ventricular septal ...	OMIM:616268
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Renal cyst	ORPHA:79303
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Cerebellar vermis hypoplasia, Hypospadias, Optic nerve hypoplasia, Micrognathia, Hypoplasia of th...	ORPHA:495875
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Aortic valve stenosis, Retrognathia, Bicuspid aortic valve, Microcephaly	OMIM:613563
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Ventricular septal defect, Proteinuria, Cerebral hemorrhage, Microcephaly, Patent ductus arterios...	OMIM:616682
Peutz-Jeghers Syndrome	Enlarged polycystic ovaries, Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts	ORPHA:2869
Pearson Syndrome	Renal insufficiency, Proteinuria, Microcephaly, Lacticaciduria, Renal cyst, Abnormal heart morpho...	ORPHA:699
Marfan Syndrome	Bicuspid aortic valve, Micrognathia, Mitral annular calcification, Mitral valve prolapse, Ascendi...	OMIM:154700
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Microgna...	ORPHA:1071
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos...	ORPHA:99880
Cornelia De Lange Syndrome	Delayed eruption of teeth, Multicystic kidney dysplasia, Hypoplasia of penis, Ventricular septal ...	ORPHA:199
Bardet-Biedl Syndrome	Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia	ORPHA:110
Turner Syndrome Due To Structural X Chromosome Anomalies	Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, High urinary gonadotropin level...	ORPHA:99413
Mosaic Monosomy X	Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, High urinary gonadotropin level...	ORPHA:99228
Monosomy X	Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, High urinary gonadotropin level...	ORPHA:99226
Turner Syndrome	Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, High urinary gonadotropin level...	ORPHA:881
Parathyroid Carcinoma	Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos...	ORPHA:143
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Relative macrocephaly, Ventricular septal defect, Dysplastic corpus callosum, Patent ductus arter...	ORPHA:466791
Ulnar-Mammary Syndrome	Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Ventricular septal defect, Aplasia o...	OMIM:181450
Mowat-Wilson Syndrome	Mandibular prognathia, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Urinary incontinence,...	ORPHA:2152
Von Hippel-Lindau Disease	Elevated urinary catecholamine level, Pancreatic cysts, Myocarditis, Cardiomyopathy, Renal cell c...	ORPHA:892
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Hypoplastic scapulae, Ventricular septal defect, Micrognathia, Hypoplasia ...	ORPHA:96334
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	11 pairs of ribs, Short metacarpal, Ventricular septal defect, Bicuspid aortic valve, Micrognathi...	OMIM:271640
Cardiospondylocarpofacial Syndrome	Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Hypopl...	OMIM:157800
Hunter-Macdonald Syndrome	Bicuspid aortic valve, Hypospadias, Patent ductus arteriosus, Mitral valve prolapse, Malar flatte...	OMIM:611962
Chromosome 16P13.3 Duplication Syndrome	Ventricular septal defect, Micrognathia, Short thumb, Short toe, Atrial septal defect, Tetralogy ...	OMIM:613458
Frontometaphyseal Dysplasia 2	Neurogenic bladder, Short metacarpal, Bicuspid aortic valve, Patent ductus arteriosus, Short meta...	OMIM:617137
Noonan Syndrome 1	Hypospadias, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Dental malocclusi...	OMIM:163950
Esophageal Atresia	Renal agenesis, Ventricular septal defect, Coarctation of aorta, Abnormality of the urinary syste...	ORPHA:1199
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Bicuspid aortic valve, Microcephaly, Secundum atrial septal defect, Patent ductus arteriosus, Cha...	OMIM:613355
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis	ORPHA:1297
Mody	Nephropathy, Abnormality of the kidney, Renal cyst, Glycosuria	ORPHA:552
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Glomerulopathy, Renal insufficiency, Delayed eruption of teeth, Proteinuri...	ORPHA:534
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Micromelia, Micrognathia, Renal hypoplasia, Renal cy...	ORPHA:93271
Wolf-Hirschhorn Syndrome	Ventricular septal defect, Hypospadias, Short hallux, Micrognathia, Microcephaly, Short thumb, Ab...	OMIM:194190
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Ventricular hypertrophy, Hypoplasia of the ulna, Short metacarpal, Delayed eruption of teeth, Ven...	OMIM:143095
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Agenesis of corpus callosum, Multiple renal cysts	OMIM:618733
Cutis Laxa, Autosomal Dominant 1	Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:123700
Congenital Disorder Of Glycosylation, Type Iiw	Membranoproliferative glomerulonephritis, Ventricular septal defect, Microscopic hematuria, Micro...	OMIM:619525
Trichorhinophalangeal Syndrome, Type Ii	Mandibular prognathia, Short metacarpal, Internal carotid artery dissection, Bicuspid aortic valv...	OMIM:150230
Progeroid Short Stature With Pigmented Nevi	Aortic valve stenosis, Chordee, Bicuspid aortic valve, Hypospadias	OMIM:176690
Peroxisome Biogenesis Disorder 4A (Zellweger)	Renal cyst	OMIM:614862
Pallister-Killian Syndrome	Micrognathia, Renal cyst, Short palm, Atrial septal defect, Hypospadias, Rhizomelia, Mesomelic/rh...	OMIM:601803
Yunis-Varon Syndrome	Cerebellar vermis hypoplasia, Micrognathia, Short metatarsal, Absent hallux, Micropenis, Pachygyr...	OMIM:216340
Sotos Syndrome	Ureteral duplication, Cerebellar vermis hypoplasia, No permanent dentition, Increased head circum...	ORPHA:821
Beckwith-Wiedemann Syndrome	Mandibular prognathia, Ureteral duplication, Nephroblastoma, Cardiomegaly, Nephrolithiasis, Hyper...	ORPHA:116
Familial Adenomatous Polyposis 4	Ovarian cyst, Renal cyst	OMIM:617100
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Microcephaly, Hydrocephalus, Hemat...	OMIM:619475
Liver Disease, Severe Congenital	Macrocephaly at birth, Recurrent urinary tract infections, Ventricular septal defect, Left atrial...	OMIM:619991
C Syndrome	Multicystic kidney dysplasia, Micromelia, Micrognathia, Renal hypoplasia/aplasia, Microcephaly, H...	ORPHA:1308
Spondylocarpotarsal Synostosis Syndrome	Short metacarpal, Hypoplasia of the odontoid process, Renal cyst, Failure of eruption of permanen...	OMIM:272460
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Renal cyst	ORPHA:480536
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Ventricular septal defect	OMIM:614653
Eisenmenger Syndrome	Renal insufficiency, Ventricular septal defect, Patent ductus arteriosus, Aortopulmonary window, ...	ORPHA:97214
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Cerebellar vermis hypoplasia, Ventricular septal defect, Optic nerve hypop...	OMIM:620330
Craniotubular Dysplasia, Ikegawa Type	Macrocephaly, Ventricular septal defect, Short palm	OMIM:619727
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Cystic renal dysplasia	OMIM:615989
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi...	OMIM:600740
Acrocephalopolydactylous Dysplasia	Cystic renal dysplasia, Enlarged kidney, Micromelia	OMIM:200995
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Renal cyst	OMIM:601539
Immunodeficiency 96	Multicystic kidney dysplasia	OMIM:619774
Osteoporosis-Pseudoglioma Syndrome	Ventricular septal defect, Microcephaly	OMIM:259770
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agenesis, Microcephal...	OMIM:308205
Fraser Syndrome	Encephalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Microcephaly, Myel...	ORPHA:2052
Von Hippel-Lindau Syndrome	Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst	OMIM:193300
Proteus Syndrome	Abnormal dental enamel morphology, Enlarged polycystic ovaries, Carious teeth, Long penis, Renal ...	ORPHA:744
Branchiooculofacial Syndrome	Agenesis of cerebellar vermis, Renal agenesis, Hypospadias, Micrognathia, Microcephaly, Short thu...	OMIM:113620
Combined Immunodeficiency-Enteropathy Spectrum	Ventricular septal defect	ORPHA:436252
Attenuated Familial Adenomatous Polyposis	Multiple renal cysts	ORPHA:220460
Microphthalmia, Syndromic 1	Hydroureter, Bicuspid aortic valve, Hypospadias, Renal hypoplasia/aplasia, Microcephaly, Renal hy...	OMIM:309800
Pmm2-Cdg	Mandibular prognathia, Pericarditis, Cerebellar vermis hypoplasia, Proteinuria, Pericardial effus...	ORPHA:79318

Histopathology

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

There is no histopathology data for Dctn5

IMPC related publications

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

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

Title	Journal	IMPC Allele	PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Dctn5^{tm2a(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Dctn5^{tm1a(KOMP)Wtsi}	PMC6459510

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Dctn5^{tm2a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Dctn5^{tm41679(L1L2_Pgk_PM)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Dctn5^{tm2e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Dctn5^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Dctn5^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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