Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
cataract Dctn5tm2a(KOMP)Wtsi HET Early adult 9.52×10-06
abnormal lens morphology Dctn5tm2a(KOMP)Wtsi HET Early adult 1.15×10-05
preweaning lethality, complete penetrance Dctn5tm2a(KOMP)Wtsi HOM   Early adult 0.00
abnormal behavior Dctn5tm2a(KOMP)Wtsi HET Early adult 6.89×10-05

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 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images

View all 72 images

Human diseases caused by Dctn5 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
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 18
Cataract OMIM:610019
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 39, Multiple Types
Developmental cataract OMIM:615188
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Cataract 44
Developmental cataract OMIM:616509
Aniridia 3
Cataract OMIM:617142
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Atrial septal defect, Cerebellar hypoplasia, Porencephalic cyst, Situs inver... OMIM:601322
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
Ectopia lentis ORPHA:2084
Genitopalatocardiac Syndrome
Renal cyst, Cleft upper lip, Hypospadias, Double outlet right ventricle, Micrognathia, Right aort... OMIM:231060
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Trichomegaly
Cataract OMIM:190330
Aminopterin/Methotrexate Embryofetopathy
Tetralogy of Fallot, Non-midline cleft lip, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia o... ORPHA:1908
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Nephronophthisis 16
Enlarged kidney, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Situs inversus totalis, P... OMIM:615382
Cataract 7
Developmental cataract OMIM:115660
Nephronophthisis 14
Cerebellar vermis hypoplasia, Nephronophthisis, Situs inversus totalis, Polycystic kidney dysplasia OMIM:614844
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis OMIM:601127
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
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Holoprosencephaly 5
Semilobar holoprosencephaly, High palate, Central diabetes insipidus, Lobar holoprosencephaly, De... OMIM:609637
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, High palate, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defec... ORPHA:3304
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Dysplastic corpus callosum, Recurrent urinary tract infections, Retrog... ORPHA:363444
Heterotaxy, Visceral, 6, Autosomal
Total anomalous pulmonary venous return, Unbalanced atrioventricular canal defect, Dextrocardia, ... OMIM:614779
Right Atrial Isomerism
Right atrial isomerism, Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomal... OMIM:208530
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Ventricular septal defect, Hypoplastic right heart, Micrognathia OMIM:601348
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle,... OMIM:617912
Catel-Manzke Syndrome
Overriding aorta, High palate, Cleft upper lip, Dextrocardia, Micrognathia, Coarctation of aorta,... OMIM:616145
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Pierre Robin Syndrome
Pierre-Robin sequence, Micrognathia, Glossoptosis, Cor pulmonale, Cleft palate OMIM:261800
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal aortic morphology, Tetralogy of Fallot, Tooth agenesis, Micrognathia, Microcephaly, Abno... ORPHA:1166
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus OMIM:125520
Ciliary Dyskinesia, Primary, 40
Patent ductus arteriosus, Unbalanced atrioventricular canal defect, Chronic sinusitis, Situs inve... OMIM:618300
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pierre-Robin sequence, High palate, Short 5th metacarpal, Long philtrum, Thin upper lip vermilion... OMIM:617877
Foveal Hypoplasia 1
Presenile cataracts OMIM:136520
Lambotte Syndrome
Narrow mouth, Semilobar holoprosencephaly, Microcephaly, Ventricular septal defect, Retrognathia OMIM:245552
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Cleft upper lip, Foot oligodactyly, Bilateral cleft lip and palate, Ventricular septal defect, An... OMIM:601357
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Ritscher-Schinzel Syndrome 1
Tetralogy of Fallot, Missing ribs, Atrial septal defect, Hydronephrosis, Hypospadias, Double outl... OMIM:220210
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Overriding aorta, Narrow mouth, Abnormal aortic arch morphology, Carious teeth, Microcephaly, Art... ORPHA:1110
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Dextrocardia, Situs inversus totalis ORPHA:66630
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Dextrocardia, Double outlet right ventricle, Hypoplastic left hear... OMIM:619702
Agnathia-Otocephaly Complex
Narrow mouth, Aglossia, Agenesis of corpus callosum, Situs inversus totalis, Micrognathia, Microg... OMIM:202650
Recombinant Chromosome 8 Syndrome
Cerebral atrophy, Tetralogy of Fallot, Patent ductus arteriosus, Abnormality of the dentition, At... OMIM:179613
X-Linked Retinoschisis
Cataract ORPHA:792
Hypoglossia With Situs Inversus
Narrow mouth, High palate, Hypodontia, Situs inversus totalis, Micrognathia, Microglossia OMIM:612776
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Narrow mouth, Agenesis of corpus callosum, Hypoplasia of penis, Situs inversus totalis, Mandibula... ORPHA:990
Atrial Septal Defect 2
Atrial septal defect, Ventricular septal defect, Atrioventricular canal defect OMIM:607941
Trisomy 17P
Narrow mouth, High palate, Patent ductus arteriosus, Hydronephrosis, Urethral stenosis, Hypoplasi... ORPHA:261290
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Glaucoma 3, Primary Congenital, D
Corneal opacity, Ectopia lentis, Primary congenital glaucoma OMIM:613086
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Coarctation of aorta, Hypoplastic left heart, Ventricular septal defect, Atr... OMIM:615779
Mmep Syndrome
Microcephaly, Ventricular septal defect, Mandibular prognathia, Oral cleft, Median cleft lip ORPHA:3434
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Galactosemia Ii
Cataract OMIM:230200
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cystic renal dysplasia, Hypertrophic cardiomyopathy, Situs inversus totalis, Pul... OMIM:615415
Heterotaxy, Visceral, 7, Autosomal
Total anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Pulmonary artery hy... OMIM:616749
Distal Monosomy 13Q
Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the corpus callosum, Anencephaly, Microcep... ORPHA:1590
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Patent foramen ovale, Long philtrum, Atrial septal defect, Double outlet right ... ORPHA:477817
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Dextrocardia, Situs inversus totalis, Polycystic kidney dysplasia, Recurrent urinary tract infect... OMIM:613095
Aorta Coarctation
Tetralogy of Fallot, Cardiomegaly, Coarctation of the descending aortic arch, Patent ductus arter... ORPHA:1457
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Cataract 42
Developmental cataract OMIM:115900
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly, Microcephaly, Periventricular leukomalacia OMIM:619170
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Missing ribs, Dextrocardia, Situs inversus totalis, Spina bifida occulta, Unila... OMIM:613686
Megabladder, Congenital
Multiple glomerular cysts, Patent ductus arteriosus, Atrial septal defect, Left ventricular nonco... OMIM:618719
Pseudotrisomy 13 Syndrome
Complete atrioventricular canal defect, Renal agenesis, Cleft upper lip, Agenesis of corpus callo... OMIM:264480
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Ureteral atresia, Patent ductus arteriosus, Bilateral renal agenesis, ... OMIM:618845
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Cataract 47
Microcornea, Cataract OMIM:612018
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Double outlet right ventricle, Hypoplastic left heart, ... OMIM:617205
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis, Hydranencephaly, Microcephaly, Short distal phalanx of finger, Ventric... OMIM:601355
Cataract 1, Multiple Types
Developmental cataract, Microcornea, Pulverulent cataract, Nuclear cataract, Posterior subcapsula... OMIM:116200
Cardiac Septal Defects With Coarctation Of The Aorta
Perimembranous ventricular septal defect, Coarctation of aorta, Secundum atrial septal defect OMIM:212090
Ciliary Dyskinesia, Primary, 25
Sinusitis, Recurrent sinusitis, Dextrocardia, Situs inversus totalis OMIM:615482
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Bardet-Biedl Syndrome 8
Renal dysplasia, Hypospadias, Situs inversus totalis OMIM:615985
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomalous pulmonary venous ret... OMIM:613854
Triploidy
Narrow mouth, Non-midline cleft lip, Aplasia/Hypoplasia of the corpus callosum, Hypospadias, Hypo... ORPHA:3376
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal cyst, Hypoplasia of the ulna, Renal hypoplasia, Micrognathia, Ventricular septal defect, Tr... OMIM:228940
Heterotaxy, Visceral, 2, Autosomal
Mesocardia, Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Abdominal situs ... OMIM:605376
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent sinusitis, Situs inversus totalis OMIM:300991
Marden-Walker Syndrome
Abnormal anatomic location of the heart, Bifid uvula, Abnormal penis morphology, Cerebellar hypop... ORPHA:2461
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Microcephaly, Holoprosencephaly, Cerebral cortical atrophy ORPHA:2523
Lethal Congenital Contracture Syndrome 10
Overriding aorta, High palate, Long philtrum, Micrognathia, Ventricular septal defect, Cardiomega... OMIM:617022
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Abnormality of the diencephalon, Aplasia/Hypoplasia of the corpus callosum, Hydranencephaly, Micr... ORPHA:2570
Sonoda Syndrome
Narrow mouth, Ventricular septal defect OMIM:270460
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Microcephaly, Ventricular septal defect, Thin corpus callosum, Hypoplasia o... OMIM:614249
Sandestig-Stefanova Syndrome
High palate, Muscular ventricular septal defect, Primary microcephaly, Retrognathia, Hypoplasia o... OMIM:618804
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Patent ductus arteriosus, Atrial septal defect, Vascular ring, Ventricular sept... OMIM:601927
Congenital Disorder Of Glycosylation, Type Il
Long philtrum, Global brain atrophy, Abnormal cardiac septum morphology, Polycystic kidney dyspla... OMIM:608776
Meckel Syndrome 13
Occipital encephalocele, Cerebellar hypoplasia, Micrognathia, Polycystic kidney dysplasia OMIM:617562
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Narrow mouth, Abnormal localization of kidney, Ventricular septal defect, Megalencephaly, Hydroce... ORPHA:83473
Aniridia 2
Cataract, Aniridia OMIM:617141
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Cataract 15, Multiple Types
Developmental cataract, Cataract, Cortical cataract, Nuclear cataract, Lamellar cataract OMIM:615274
Distal Tetrasomy 15Q
High palate, Horseshoe kidney, Patent ductus arteriosus, Atrial septal defect, Hydronephrosis, Di... ORPHA:314588
Meacham Syndrome
Tetralogy of Fallot, Horseshoe kidney, Patent ductus arteriosus, Conotruncal defect, Atrial septa... ORPHA:3097
Mirror Movements 3
Situs inversus totalis OMIM:616059
Cataract 10, Multiple Types
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract OMIM:600881
Holoprosencephaly With Fetal Akinesia/Hypokinesia Sequence
Microcephaly, Holoprosencephaly OMIM:306990
Ciliary Dyskinesia, Primary, 3
Recurrent sinusitis, Situs inversus totalis OMIM:608644
Phenobarbital Embryopathy
Tetralogy of Fallot, Abnormal mitral valve morphology, Unilateral cleft lip, Aplasia/Hypoplasia o... ORPHA:1919
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Progressive cataract, Iris coloboma OMIM:604219
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Dextrocardia, Situs inversus totalis OMIM:618948
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Situs inversus totalis, Aminoaciduria, Cardiomyopathy, Ventricular septal d... OMIM:249270
Ciliary Dyskinesia, Primary, 37
Right aortic arch, Dextrocardia, Situs inversus totalis OMIM:617577
Tricuspid Atresia
Patent foramen ovale, Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Hypoplasia o... ORPHA:1209
Marfanoid Habitus With Situs Inversus
Aortic root aneurysm, Situs inversus totalis, Pulmonic stenosis, Mandibular prognathia, Mitral va... OMIM:609008
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus, Cerebral atrophy, Microcephaly, Bicuspid aortic valve, Hypoplasia of the corpus ca... OMIM:615599
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Distal Monosomy 7Q36
Non-midline cleft lip, Hypoplasia of penis, Micrognathia, Microcephaly, Holoprosencephaly, Cleft ... ORPHA:1636
Diabetic Embryopathy
Hydrocephalus, Tetralogy of Fallot, Ureteral duplication, Renal hypoplasia/aplasia, Micropenis, H... ORPHA:1926
Ciliary Dyskinesia, Primary, 38
Dextrocardia, Situs inversus totalis, Chronic sinusitis OMIM:618063
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Overriding aorta, Tetralogy of Fallot, Missing ribs, Hypoplasia of the ulna, Phocomelia, Aplasia/... ORPHA:3186
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Renal cortical microcysts, Situs inversus totalis, Chronic tub... OMIM:602088
Ciliary Dyskinesia, Primary, 20
Recurrent sinusitis, Dextrocardia, Situs inversus totalis OMIM:615067
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Abnormality of the kidney, Micrognathia, Dandy-Walker malformation, Ventricular septal defect, Ab... OMIM:616901
Feingold Syndrome 2
Short thumb, Short middle phalanx of the 2nd finger, Ventricular septal defect, Secondary microce... OMIM:614326
14Q11.2 Microdeletion Syndrome
Narrow mouth, High palate, Long philtrum, Patent ductus arteriosus, Everted lower lip vermilion, ... ORPHA:261120
Meckel Syndrome, Type 7
Multiple glomerular cysts, Pancreatic cysts, Patent ductus arteriosus, Atrial septal defect, Situ... OMIM:267010
Thanatophoric Dysplasia Type 2
Patent ductus arteriosus, Atrial septal defect, Abnormality of the kidney, Micromelia, Hydrocepha... ORPHA:93274
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, I... OMIM:617319
Gillessen-Kaesbach-Nishimura Syndrome
Micrognathia, Polycystic kidney dysplasia, Microcephaly, Abnormal heart morphology, Retrognathia,... OMIM:263210
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Renal agenesis, Renal hypoplasia/aplasia, Micrognathia, High, narrow palate, Microcephaly, Short ... ORPHA:2516
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Proximal Myotonic Myopathy
Cataract ORPHA:606
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Solitary median maxillary central incisor, Median cleft palate, Pate... OMIM:301043
Cataract 8, Multiple Types
Developmental cataract, Nuclear cataract OMIM:115665
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Short philtrum, Atrial septal defect, Thick lower lip vermilion, Micrognathia, Widely-spaced maxi... OMIM:608227
Renal Tubular Dysgenesis
Tetralogy of Fallot, Proximal tubulopathy, Microcephaly, Nephropathy, Renotubular dysgenesis, Mul... ORPHA:3033
Ring Chromosome 21 Syndrome
Microcephaly, Abnormal heart morphology, Holoprosencephaly, Small hand ORPHA:1445
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency, Cerebral berry aneurysm, Mitral valve prolapse,... OMIM:173900
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Dandy-Walker malformation, Hydrocephalus, Macrocephaly, Holoprosencephaly OMIM:617967
Congenital Heart Defects, Multiple Types, 2
Tetralogy of Fallot, Myxomatous mitral valve degeneration, Subvalvular aortic stenosis, Aortic an... OMIM:614980
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Agenesis of corpus callosum, Patent ductus arteriosus, 11 pairs of ribs, Hypoplasia of penis, Ven... ORPHA:77298
Mungan Syndrome
Perimembranous ventricular septal defect, Renal hypoplasia, Vesicoureteral reflux, Pulmonic stenosis OMIM:611376
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Double... OMIM:618316
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Long philtrum, Hydronephrosis, Pulmonic stenosis, Ventricular septal defect,... ORPHA:251076
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle OMIM:618254
Orofaciodigital Syndrome I
Abnormal cortical gyration, Hypothalamic hamartoma, Proteinuria, Hamartoma of tongue, Ovarian cys... OMIM:311200
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Cataract 22, Multiple Types
Developmental cataract, Nuclear cataract OMIM:609741
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617610
Acalvaria
Spina bifida, Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Cleft palate ORPHA:945
Coffin-Siris Syndrome 10
Microcephaly, Persistence of primary teeth, Ventricular septal defect, Wide mouth OMIM:618506
Feingold Syndrome Type 2
Microcephaly, Short middle phalanx of finger, Short thumb, Ventricular septal defect ORPHA:391646
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Atrial septal defect, Multicystic kidney dysplasia, Cardiomyopa... ORPHA:1909
Femoral-Facial Syndrome
Long philtrum, Aplasia/Hypoplasia of the corpus callosum, Long penis, Micrognathia, Polycystic ki... ORPHA:1988
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Ellis Van Creveld Syndrome
Microdontia, Dextrocardia, Micromelia, Ventricular septal defect, Atrioventricular canal defect, ... ORPHA:289
Ciliary Dyskinesia, Primary, 10
Recurrent sinusitis, Situs inversus totalis, Chronic sinusitis OMIM:612518
Hadziselimovic Syndrome
High palate, Tetralogy of Fallot, Hypoplasia of the corpus callosum, Atrial septal defect, Renal ... OMIM:612946
Primary Ciliary Dyskinesia
Hydrocephalus, Chronic sinusitis, Situs inversus totalis, Double outlet right ventricle, Abnormal... ORPHA:244
Laterality Defects, Autosomal Dominant
Heterotaxy, Situs inversus totalis OMIM:601086
Catel-Manzke Syndrome
Atrial septal defect, Micrognathia, Malar flattening, Glossoptosis, Ventricular septal defect, Or... ORPHA:1388
Ciliary Dyskinesia, Primary, 23
Recurrent sinusitis, Situs inversus totalis OMIM:615451
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Renal agenesis, Cerebral atrophy, Micropenis, Hydronephrosis, U-Shaped upper lip vermilion, Thick... OMIM:301040
Ciliary Dyskinesia, Primary, 16
Situs inversus totalis, Chronic sinusitis OMIM:614017
Adams-Oliver Syndrome 4
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Short toe OMIM:615297
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Ciliary Dyskinesia, Primary, 7
Dextrocardia, Situs inversus totalis OMIM:611884
Holoprosencephaly 11
Agenesis of corpus callosum, Cleft lip, Microcephaly, Holoprosencephaly, Cleft palate OMIM:614226
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis
Trismus, Micropenis, Micrognathia, Abnormal heart morphology, Microphallus OMIM:218450
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Long philtrum, Optic nerve hypoplasia, Micrognathia, Microcephaly, Spina bifida, Ventricular sept... ORPHA:508498
Nathalie Syndrome
Cataract OMIM:255990
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Abdominal situs inversus, Dextrocardia, Situs inversus totalis, Chronic sinusitis OMIM:619607
Ciliary Dyskinesia, Primary, 17
Dextrocardia, Situs inversus totalis, Chronic sinusitis OMIM:614679
Ciliary Dyskinesia, Primary, 13
Recurrent sinusitis, Situs inversus totalis OMIM:613193
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Patent ductus arteriosus, Coarctation of aorta, Microcephaly, Bicuspid aortic... OMIM:612474
Bardet-Biedl Syndrome 17
Renal cyst, Stage 5 chronic kidney disease, Micropenis, Polyuria, Dextrocardia, Situs inversus to... OMIM:615994
Dextrocardia
Abnormality of the ureter, Dextrocardia, Situs inversus totalis, Congenital malformation of the g... ORPHA:1666
Dysequilibrium Syndrome
Cataract ORPHA:1766
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal palate morphology, Abnormal mitral valve morphology, Micrognathia, Tooth agenesis, Mesom... ORPHA:1277
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Cataract, Phakodonesis, Lens subluxation, Iris hypope... OMIM:177650
Ciliary Dyskinesia, Primary, 9
Recurrent sinusitis, Situs inversus totalis, Chronic sinusitis OMIM:612444
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract OMIM:225740
Microform Holoprosencephaly
Renal agenesis, Short philtrum, Tetralogy of Fallot, Solitary median maxillary central incisor, A... ORPHA:280200
Meckel Syndrome, Type 4
Renal cyst, Hypoplasia of the corpus callosum, Atrial septal defect, Anencephaly, Microcephaly, D... OMIM:611134
Ciliary Dyskinesia, Primary, 27
Recurrent sinusitis, Situs inversus totalis, Chronic sinusitis OMIM:615504
Oculoauriculofrontonasal Syndrome
Narrow mouth, Pericallosal lipoma, Micrognathia, Cleft lip, Microcephaly, Ventricular septal defe... ORPHA:398156
Cataract 3, Multiple Types
Sutural cataract, Nuclear pulverulent cataract, Developmental cataract, Cerulean cataract OMIM:601547
Maternal Phenylketonuria
High palate, Tetralogy of Fallot, Long philtrum, Bladder exstrophy, Double outlet right ventricle... ORPHA:2209
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Non-midline cleft lip, Anencephaly, Hypoplastic left heart, Spina bifida, Ventricular septal defe... ORPHA:2476
Mesoaxial Hexadactyly And Cardiac Malformation
Patent ductus arteriosus, Atrial septal defect, Everted lower lip vermilion, Pulmonic stenosis, V... OMIM:249670
Fetal Minoxidil Syndrome
Ventricular septal defect, Micrognathia ORPHA:1918
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Colpocephaly, Chordee, Histiocytoid cardiomyopathy, Agenesis of corpus callosum... OMIM:309801
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Cerebral atrophy, Patent ductus arteriosus, Double outlet right ventricle, Pulmonic stenosis, Coa... OMIM:618164
Tetraamelia Syndrome 2
Bilateral cleft lip, Micropenis, Micrognathia, Microretrognathia, Glossoptosis, Ventricular septa... OMIM:618021
Monosomy 18P
Short philtrum, Hypodontia, Carious teeth, Micrognathia, Microcephaly, Holoprosencephaly, Downtur... ORPHA:1598
Thomas Syndrome
Cleft upper lip, Multicystic kidney dysplasia, Hypoplastic left heart, Renal hypoplasia/aplasia, ... ORPHA:3316
Verheij Syndrome
Renal agenesis, Cerebral atrophy, Renal cyst, Long philtrum, Renal hypoplasia, Short 5th finger, ... OMIM:615583
Aortic Valve Disease 1
Double outlet right ventricle, Mitral stenosis, Mitral atresia, Ventricular septal defect, Bicusp... OMIM:109730
Holoprosencephaly, Recurrent Infections, And Monocytosis
Agenesis of corpus callosum, Micropenis, Microcephaly, Short finger, Short toe, Holoprosencephaly OMIM:610680
Ventricular Septal Defect 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:614429
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Bowen Syndrome Of Multiple Malformations
Agenesis of corpus callosum, Abnormal heart morphology, Hypospadias, Micrognathia OMIM:211200
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormal myocardium morphology, Cerebral calcification, Cystic renal dysplasia, Abnormality of th... ORPHA:228308
16P13.11 Microdeletion Syndrome
Cleft upper lip, Agenesis of corpus callosum, Atrial septal defect, Exaggerated cupid's bow, Micr... ORPHA:261236
Fetal Trimethadione Syndrome
High palate, Tetralogy of Fallot, Atrial septal defect, Micrognathia, Microcephaly, Ventricular s... ORPHA:1913
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Double outlet r... OMIM:217095
Ciliary Dyskinesia, Primary, 35
Situs inversus totalis, Chronic sinusitis OMIM:617092
Holoprosencephaly-Postaxial Polydactyly Syndrome
Narrow mouth, Hypoplasia of the premaxilla, Renal hypoplasia/aplasia, Cerebellar hypoplasia, Apla... ORPHA:2166
Phelan-Mcdermid Syndrome
High palate, Long philtrum, Patent ductus arteriosus, Widely spaced teeth, Abnormality of the kid... OMIM:606232
Peroxisome Biogenesis Disorder 3A (Zellweger)
Vascular dilatation, Polycystic kidney dysplasia OMIM:614859
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis OMIM:122850
Halperin-Birk Syndrome
Semilobar holoprosencephaly, High palate, Colpocephaly, Agenesis of corpus callosum, Micrognathia... OMIM:618651
Intellectual Developmental Disorder, Autosomal Recessive 73
Drooling, Patent ductus arteriosus, Widely spaced teeth, Thick upper lip vermilion, Impaired mast... OMIM:619717
Partial Atrioventricular Septal Defect
Tetralogy of Fallot, Abnormal tricuspid valve morphology, Partial atrioventricular canal defect, ... ORPHA:1330
Microcephaly-Cardiomyopathy Syndrome
Microcephaly, Dilated cardiomyopathy, Ventricular septal defect, High, narrow palate ORPHA:2515
Ciliary Dyskinesia, Primary, 2
Sinusitis, Dextrocardia, Situs inversus totalis OMIM:606763
Cataract 11, Multiple Types
Cataract OMIM:610623
Ciliary Dyskinesia, Primary, 28
Recurrent sinusitis, Situs inversus totalis OMIM:615505
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Cerebellar hypoplasia, Dextrocardia, Double outlet right... OMIM:306955
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Short ribs, Occipital encephalocele, Micropenis, Anterior hypopituitarism... OMIM:241800
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
High palate, Solitary median maxillary central incisor, Patent ductus arteriosus, Thoracic aortic... OMIM:619657
Mental retardation, x-linked, syndromic, Turner type
Macrocephaly, Holoprosencephaly OMIM:300706
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, High palate, Diffuse mesangial sclerosis, Nephrotic syndrome, IgA deposit... OMIM:616730
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Chronic sinusitis, Primum atrial septal defect, Situs inversus totalis, Partial atrioventricular ... OMIM:619608
Short Rib-Polydactyly Syndrome
Polycystic kidney dysplasia, Micromelia, Short tibia, Cleft palate, Multiple glomerular cysts, Sh... ORPHA:1505
Ciliary Dyskinesia, Primary, 18
Recurrent sinusitis, Situs inversus totalis OMIM:614874
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Double Outlet Right Ventricle
Narrow mouth, Tetralogy of Fallot, Heterotaxy, Double outlet right ventricle, Pulmonic stenosis, ... ORPHA:3426
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal hypertrophy, Microcephaly, Ventricular septal defect, Abnormal cerebral white ... OMIM:614947
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Left superior vena cava draining directly to the left atrium, Cerebral atrophy, Pulmonary artery ... OMIM:613759
Chromosome 1Q41-Q42 Deletion Syndrome
Microcephaly, Holoprosencephaly, Cleft upper lip, Cleft palate OMIM:612530
Orofaciodigital Syndrome Xiv
Cerebellar hypoplasia, Hamartoma of tongue, Micrognathia, Microcephaly, Dandy-Walker malformation... OMIM:615948
Carnitine Palmitoyltransferase Ii Deficiency
Cerebral calcification, Cystic renal dysplasia, Abnormality of the basal ganglia, Agenesis of cor... ORPHA:157
Hyperferritinemia With Or Without Cataract
Pulverulent cataract, Nuclear cataract OMIM:600886
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
High palate, Renal cyst, Agenesis of permanent teeth, Fused teeth, Short ribs, Renal hypoplasia, ... OMIM:614091
Joubert Syndrome
Biparietal narrowing, Aplasia/Hypoplasia of the corpus callosum, Situs inversus totalis, Hydrocep... ORPHA:475
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hydrocephalus, Dilated cardiomyopathy, Agyria, Encephalocele, Hypoplasia of the pyramidal tract, ... OMIM:253800
Short-Rib Thoracic Dysplasia 12
Cystic renal dysplasia, Hamartoma of tongue, Ventricular septal defect, Median cleft lip and pala... OMIM:269860
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal mitral valve morphology, Meso... ORPHA:1354
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Vissers-Bodmer Syndrome
Holoprosencephaly, Decreased head circumference OMIM:619033
Chromosome 15Q14 Deletion Syndrome
Short philtrum, Atrial septal defect, Everted lower lip vermilion, Tented upper lip vermilion, Cl... OMIM:616898
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Cerebellar hypoplasia, Dextrocardia, Double outlet right... OMIM:270100
10Q22.3Q23.3 Microduplication Syndrome
Tetralogy of Fallot, Abnormality of the philtrum, Microcephaly, Microretrognathia, Abnormality of... ORPHA:276422
Congenital Disorder Of Glycosylation, Type Ii
Cataract OMIM:607906
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Microphthalmia, Isolated, With Coloboma 5
Oral cleft, Holoprosencephaly OMIM:611638
Heart Defects, Congenital, And Other Congenital Anomalies
Glycosuria, Tetralogy of Fallot, Patent foramen ovale, Double outlet left ventricle, Hypoplastic ... OMIM:600001
Spinal Muscular Atrophy, Type I
Atrial septal defect, Tongue fasciculations, Ventricular septal defect OMIM:253300
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Unilateral renal agenesis, High palate, Patent ductus arteriosus, Atrial septal defect, Micropeni... OMIM:618142
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Odontochondrodysplasia 1
Nephronophthisis, Long philtrum, Delayed eruption of teeth, Short metacarpal, Relative macrocepha... OMIM:184260
Apert Syndrome
Overriding aorta, Bifid uvula, Delayed eruption of teeth, Agenesis of corpus callosum, Cerebellar... OMIM:101200
Diamond-Blackfan Anemia 6
Tetralogy of Fallot, Bifid uvula, Cleft upper lip, Patent ductus arteriosus, Atrial septal defect... OMIM:612561
Meckel Syndrome, Type 11
Occipital encephalocele, Polycystic kidney dysplasia OMIM:615397
Isolated Dandy-Walker Malformation
Tetralogy of Fallot, Aplasia/Hypoplasia of the corpus callosum, Dandy-Walker malformation, Cleft ... ORPHA:217
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Short philtrum, Aplasia/Hypoplasia of the distal phalanges of the toes, Malar flattening, Ventric... ORPHA:94066
Ciliary Dyskinesia, Primary, 26
Recurrent sinusitis, Situs inversus totalis OMIM:615500
Cataract 21, Multiple Types
Microcornea, Iris coloboma, Cortical pulverulent cataract, Cerulean cataract OMIM:610202
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Retinitis Pigmentosa 84
Cataract OMIM:618220
Meckel Syndrome
Aplasia/Hypoplasia of the tongue, Ureteral duplication, Pancreatic cysts, Aplasia/Hypoplasia of t... ORPHA:564
Ciliary Dyskinesia, Primary, 30
Dextrocardia, Situs inversus totalis OMIM:616037
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Short Stature-Wormian Bones-Dextrocardia Syndrome
Broad alveolar ridges, High palate, Delayed eruption of teeth, Patent ductus arteriosus, Midshaft... ORPHA:2863
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, High palate, Diffuse mesangial sclerosis, Nephrotic syndrome, IgA deposit... OMIM:618348
Anterior Segment Dysgenesis 7
Sclerocornea, Microcornea, Cataract, Ocular anterior segment dysgenesis, Buphthalmos OMIM:269400
Pallister-Hall Syndrome
Hypothalamic hamartoma, Preductal coarctation of the aorta, Panhypopituitarism, Hydronephrosis, R... OMIM:146510
Meckel Syndrome, Type 1
Cerebellar hypoplasia, Micrognathia, Polycystic kidney dysplasia, Microcephaly, Dandy-Walker malf... OMIM:249000
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Ureteral atresia, Pancreatic cysts, Atrial septal defect, Patent ductus arterios... OMIM:208540
Heterotaxy, Visceral, 4, Autosomal
Complete atrioventricular canal defect, Total anomalous pulmonary venous return, Dextrotransposit... OMIM:613751
Pagod Syndrome
Pulmonary artery hypoplasia, Situs inversus totalis, Multicystic kidney dysplasia, Hypoplastic le... ORPHA:991
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Dilated cardiomyopathy, Left ventricular noncompaction, Pulmonary ... OMIM:613426
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon, Microcephaly, Renal insufficiency, Holoprosencephaly, Cleft pala... ORPHA:2165
Cataract 17, Multiple Types
Microcornea, Developmental cataract, Pulverulent cataract, Nuclear cataract OMIM:611544
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Deep anterior chamber, Microspherophakia, Megalocornea, Ectopia lentis OMIM:251750
Ciliary Dyskinesia, Primary, 14
Heterotaxy, Situs inversus totalis, Chronic sinusitis OMIM:613807
Filippi Syndrome
Short philtrum, Hypodontia, Microdontia, Microcephaly, Abnormality of dental morphology, Ventricu... OMIM:272440
22Q11.2 Duplication Syndrome
Tetralogy of Fallot, Hydronephrosis, Urethral stenosis, Micrognathia, Microcephaly, Hypoplastic l... ORPHA:1727
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Right aortic arch with mirror image branching, Dextrocardia, Atrioventr... OMIM:606217
Ciliary Dyskinesia, Primary, 22
Recurrent sinusitis, Dextrocardia, Situs inversus totalis OMIM:615444
Endocardial Fibroelastosis
Abnormal palate morphology, Endocardial fibroelastosis, Anterior hypopituitarism, Hypoplasia of p... ORPHA:2022
Laubry-Pezzi Syndrome
Patent foramen ovale, Abnormal aortic valve cusp morphology, Patent ductus arteriosus, Aortic val... ORPHA:99094
Emanuel Syndrome
Renal agenesis, High palate, Cerebral atrophy, Hypoplasia of the corpus callosum, Long philtrum, ... OMIM:609029
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Keratoconus OMIM:614303
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short 5th metacarpal, Patent ductus arteriosus, Pseudocoarctation of the aorta, Short finger, Bic... OMIM:604381
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Tetralogy of Fallot, Long philtrum, Short femoral neck, Velopharyngeal insufficiency, Lobar holop... OMIM:614701
Xk Aprosencephaly Syndrome
Atrial septal defect, Microcephaly, Ventricular septal defect, Narrow mouth ORPHA:3469
Hartsfield Syndrome
Non-midline cleft lip, Aplasia/Hypoplasia of the corpus callosum, Lobar holoprosencephaly, Aplasi... ORPHA:2117
Steinfeld Syndrome
Bifid uvula, Missing ribs, Hypoplasia of the ulna, Phocomelia, Aplasia/Hypoplasia of the thumb, H... OMIM:184705
Cataract 5, Multiple Types
Zonular cataract, Pulverulent cataract, Nuclear cataract, Anterior polar cataract, Lamellar cataract OMIM:116800
15Q11.2 Microdeletion Syndrome
Tetralogy of Fallot, Abnormal palate morphology, Total anomalous pulmonary venous return, Atrial ... ORPHA:261183
Beaulieu-Boycott-Innes Syndrome
Renal agenesis, Horseshoe kidney, Patent ductus arteriosus, Carious teeth, Microcephaly, Recurren... OMIM:613680
Renpenning Syndrome 1
Narrow mouth, High palate, Tetralogy of Fallot, Short philtrum, Cerebral atrophy, Atrial septal d... OMIM:309500
Scimitar Syndrome
Tricuspid atresia, Pulmonary artery hypoplasia, Dextrocardia, Double outlet right ventricle, Hypo... ORPHA:185
14Q24.1Q24.3 Microdeletion Syndrome
Ectopic kidney, Long philtrum, Atrial septal defect, Short thumb, Abnormal heart morphology, Vent... ORPHA:401935
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus, Cerebral atrophy, Hypoplasia of the corpus callosum, Bicuspid aortic valve, Second... ORPHA:397951
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis, Ventricular septal defect OMIM:614876
Aortic Aneurysm, Familial Thoracic 4
Posterior cerebral artery stenosis, Patent ductus arteriosus, Thoracic aortic aneurysm, Descendin... OMIM:132900
Chromosome 3Q13.31 Deletion Syndrome
Short philtrum, High palate, Agenesis of corpus callosum, Micropenis, High, narrow palate, Alobar... OMIM:615433
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Short 5th metacarpal, Bicuspid aortic valve, Patent ductus arteri... ORPHA:228190
Congenital Gerbode Defect
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Constrictive pericarditis,... ORPHA:99095
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, High palate, Enlarged kidney, Agenesis of corpus callosum, Ureteral dupli... OMIM:608836
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Micropenis, Hydronephrosis, Hypod... OMIM:301056
Cleft Palate, Cardiac Defects, And Mental Retardation
Short 2nd finger, Cleft upper lip, Atrial septal defect, Short 5th finger, Tented upper lip vermi... OMIM:600987
Lambert Syndrome
Malar flattening, Ventricular septal defect, Aplasia/Hypoplasia of the cerebellum, Hypospadias, W... ORPHA:1296
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis OMIM:615434
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Abnormal aortic valve cusp morphology, Dextrocardia, Single ventricle, Ventricular se... ORPHA:216694
Burn-Mckeown Syndrome
Narrow mouth, Short philtrum, Bifid uvula, Cleft upper lip, Atrial septal defect, Renal hypoplasi... OMIM:608572
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Cleft upper lip, Micropenis, Aplasia/Hypoplasia of the corpus callosum, Hypospad... OMIM:612651
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Atrial septal defect, Coarctation of aorta, Ventricular septal defect, Trans... ORPHA:261243
Peters Anomaly
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... ORPHA:708
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Cerebral atrophy, Ventricular septal defect ORPHA:306550
Autosomal Recessive Amelia
Non-midline cleft lip, Amelia involving the upper limbs, Hypoplasia of penis, Micrognathia, Oral ... ORPHA:1027
Fanconi Anemia, Complementation Group O
Absent thumb, Renal cyst, Hydronephrosis, Hypoplasia of the radius, Short thumb, Abnormal heart m... OMIM:613390
Mosaic Variegated Aneuploidy Syndrome
Atrial septal defect, Subvalvular aortic stenosis, Aplasia/Hypoplasia of the corpus callosum, Mic... ORPHA:1052
Cataract 41
Nuclear cataract OMIM:116400
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Ciliary Dyskinesia, Primary, 19
Recurrent sinusitis, Situs inversus totalis OMIM:614935
Williams-Beuren Syndrome (WBS)
Malar flattening, Microdontia, Aortic valve stenosis, Everted lower lip vermilion DECIPHER:3
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Femoral-Facial Syndrome
Renal agenesis, Missing ribs, Long philtrum, Absent vertebra, Micropenis, Pulmonic stenosis, Micr... OMIM:134780
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Cavum septum pellucidum, Nephroblastoma, Ventricular septal defect, Smooth philtru... OMIM:602501
Structural Heart Defects And Renal Anomalies Syndrome
Tetralogy of Fallot, Renal cyst, Tricuspid atresia, Atrial septal defect, Partial anomalous pulmo... OMIM:617478
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane ORPHA:1067
Retinitis Pigmentosa 40
Cataract OMIM:613801
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cerebral atrophy, Renal tubular dysfunction, Patent ductus arteriosus, Atrial septal defect, Doub... OMIM:614886
Trisomy 18
Narrow mouth, Non-midline cleft lip, Atrial septal defect, Hydronephrosis, Anencephaly, Aplasia/H... ORPHA:3380
Cataract 16, Multiple Types
Developmental cataract, Posterior polar cataract OMIM:613763
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Cataract OMIM:212540
8Q12 Microduplication Syndrome
Narrow mouth, Long philtrum, Atrial septal defect, Everted lower lip vermilion, Ventricular septa... ORPHA:228399
Isolated Cleft Lip
Supernumerary maxillary incisor, Bilateral cleft lip, Non-midline cleft lip, Velopharyngeal insuf... ORPHA:199302
Holoprosencephaly
Proteinuria, Panhypopituitarism, Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Dandy-W... ORPHA:2162
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Missing ribs, Short ribs, Micrognathia, Polycystic kidney dysplasia, Micromelia, Hyperechogenic k... OMIM:617866
Holoprosencephaly 2
Bifid uvula, Solitary median maxillary central incisor, Agenesis of corpus callosum, Cerebellar h... OMIM:157170
Dandy-Walker Malformation With Postaxial Polydactyly
Patent ductus arteriosus, Dandy-Walker malformation, Agenesis of cerebellar vermis, Microretrogna... OMIM:220220
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect, Patent ductus arteriosus OMIM:614432
Microphthalmia, Syndromic 12
Retrognathia, Ventricular septal defect, Micrognathia, Hypoplastic left atrium OMIM:615524
Ciliary Dyskinesia, Primary, 15
Situs inversus totalis, Chronic sinusitis OMIM:613808
Peroxisome Biogenesis Disorder 2A (Zellweger)
Micrognathia, Polycystic kidney dysplasia, Abnormal heart morphology, Aminoaciduria, Cleft palate OMIM:214110
Alagille Syndrome 2
Tetralogy of Fallot, Renal tubular acidosis, Renal cyst, Hematuria, Proteinuria, Atrial septal de... OMIM:610205
Ciliary Dyskinesia, Primary, 5
Recurrent sinusitis, Situs inversus totalis OMIM:608647
Smith-Lemli-Opitz Syndrome
Unilateral renal agenesis, Long philtrum, Hydronephrosis, Short thumb, Micrognathia, Micromelia, ... OMIM:270400
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Dilatation of the cerebral artery, Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Isotretinoin-Like Syndrome
Abnormal aortic arch morphology, Patent ductus arteriosus, Conotruncal defect, Abnormal cardiac a... ORPHA:2306
49,Xxxxy Syndrome
Hypoplasia of the corpus callosum, Delayed eruption of teeth, Open bite, Renal hypoplasia/aplasia... ORPHA:96264
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Microcephaly, Periventricular leukomalacia, Ventricular septal defect ORPHA:357225
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Accessory oral frenulum, High palate, Nephronophthisis, Bifid uvula, Renal cyst, Short femoral ne... OMIM:266920
Genitopalatocardiac Syndrome
Non-midline cleft lip, Hypospadias, Micrognathia, Multicystic kidney dysplasia, Microcephaly, Hyd... ORPHA:2075
Pellagra-Like Syndrome
Cataract OMIM:260650
Rhizomelic Syndrome
Rhizomelia, Microcephaly, Pulmonic stenosis, Micrognathia OMIM:268250
Mcdonough Syndrome
Short philtrum, Atrial septal defect, Pulmonic stenosis, Micrognathia, Furrowed tongue, Ventricul... OMIM:248950
Anterior Segment Dysgenesis 1
Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacification of the corneal str... OMIM:107250
Cataract 30, Multiple Types
Pulverulent cataract, Posterior polar cataract, Diffuse nuclear cataract OMIM:116300
Hypoplastic Left Heart Syndrome 1
Hypoplastic left heart, Aortic valve stenosis, Coarctation of aorta OMIM:241550
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Disproportionate shortening of the tibia, Atrial septal defect, Short ribs, Micropenis, Hamartoma... OMIM:263520
Solitary Median Maxillary Central Incisor
Solitary median maxillary central incisor, Cleft upper lip, Anterior hypopituitarism, Microcephal... OMIM:147250
Jacobsen Syndrome
Missing ribs, Atrial septal defect, U-Shaped upper lip vermilion, Micrognathia, Microcephaly, Ven... OMIM:147791
Intellectual Developmental Disorder, X-Linked 106
Open mouth, Microcephaly, Bicuspid aortic valve, Thin upper lip vermilion, Hypospadias, Thick ver... OMIM:300997
Autosomal Recessive Spastic Paraplegia Type 69
Cataract ORPHA:401830
Branchiootorenal Syndrome 1
Renal agenesis, High palate, Bifid uvula, Renal malrotation, Abnormal cerebral morphology, Microd... OMIM:113650
Proboscis Lateralis
Unilateral renal agenesis, High palate, Abnormal corpus callosum morphology, Long philtrum, Abnor... ORPHA:141099
Bardet-Biedl Syndrome 10
Renal cyst, Abnormality of the kidney, Renal insufficiency OMIM:615987
Smith-Lemli-Opitz Syndrome
Long philtrum, Aplasia/Hypoplasia of the corpus callosum, Hydronephrosis, Micrognathia, Multicyst... ORPHA:818
Floating-Harbor Syndrome
Epididymal cyst, Mesocardia, 11 pairs of ribs, Hydronephrosis, Microdontia, Short thumb, Polycyst... ORPHA:2044
Say Syndrome
Cystic renal dysplasia, Micrognathia, Microcephaly, Short distal phalanx of finger, Proximal rena... OMIM:181180
Hamel Cerebro-Palato-Cardiac Syndrome
Narrow mouth, Atrial septal defect, Micrognathia, Microcephaly, Malar flattening, Cleft palate ORPHA:93946
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Absent frontal sinuses, Situs inversus totalis, Chronic sinusitis OMIM:244400
Hypotonia, Infantile, With Psychomotor Retardation
Open mouth, Dilation of lateral ventricles, Ventricular septal defect, Hypoplasia of the corpus c... OMIM:616816
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
Renal agenesis, High palate, Cerebral atrophy, Cystic renal dysplasia, Increased urine alpha-keto... OMIM:220500
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Abnormal palate morphology, Abnormality of the dentition, Carious teeth, Multicystic kidney dyspl... ORPHA:3270
Distal Monosomy 12Q
Ectopic kidney, Congenital hypertrophy of left ventricle, Patent foramen ovale, Long philtrum, Pa... ORPHA:96149
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Acromesomelia, Hypoplasia of the corpus callosum, Patent foramen ovale, Patent ductus arteriosus,... ORPHA:500159
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Macroglossia, Microcephaly, D... OMIM:612938
Williams Syndrome
Long philtrum, Open bite, Proteinuria, Everted lower lip vermilion, Microdontia, Micrognathia, Ma... ORPHA:904
Charge Syndrome
Dysplastic tricuspid valve, Hydronephrosis, Short thumb, Double outlet right ventricle, Micrognat... OMIM:214800
Isolated Aniridia
Cataract, Aniridia, Peters anomaly ORPHA:250923
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Chromosome 15Q26-Qter Deletion Syndrome
Micropenis, Micrognathia, Microcephaly, Short middle phalanx of finger, Hypospadias, Abnormal car... OMIM:612626
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Leber Congenital Amaurosis 8
Keratoconus, Cataract OMIM:613835
Kleefstra Syndrome
Hydronephrosis, Everted lower lip vermilion, Tented upper lip vermilion, Exaggerated cupid's bow,... ORPHA:261494
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Aase-Smith Syndrome I
Open mouth, Dandy-Walker malformation, Ventricular septal defect, Hydrocephalus, Cleft palate OMIM:147800
22Q11.2 Deletion Syndrome
Long philtrum, Tricuspid atresia, Abnormal aortic valve morphology, Micrognathia, Polycystic kidn... ORPHA:567
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect OMIM:616277
Chromosome 14Q11-Q22 Deletion Syndrome
Narrow mouth, High palate, Long philtrum, Patent foramen ovale, Patent ductus arteriosus, Microgn... OMIM:613457
Developmental Delay With Or Without Dysmorphic Facies And Autism
Hydronephrosis, Micrognathia, Microcephaly, Thin upper lip vermilion, Cleft palate, Cerebellar ve... OMIM:618454
Craniofacial Dyssynostosis With Short Stature
Hypoplasia of the corpus callosum, Horseshoe kidney, Agenesis of corpus callosum, Patent ductus a... OMIM:218350
Pentalogy Of Cantrell
Renal agenesis, Tetralogy of Fallot, Encephalocele, Abnormal pericardium morphology, Non-midline ... ORPHA:1335
Li-Campeau Syndrome
Patellar hypoplasia, Long philtrum, Patent foramen ovale, Atrial septal defect, Micropenis, Paten... OMIM:619189
Bardet-Biedl Syndrome 16
Renal agenesis, Renal cyst, Abnormality of the kidney, Renal dysplasia, Renal insufficiency OMIM:615993
Holoprosencephaly 3
Central diabetes insipidus, Solitary median maxillary central incisor, Bifid uvula, Hydronephrosi... OMIM:142945
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal aortic arch morphology, Patent ductus arteriosus, A... ORPHA:860
Short Stature, Rhizomelic, With Microcephaly, Micrognathia, And Developmental Delay
High palate, Rhizomelia, Micropenis, Hypospadias, Micrognathia, Microcephaly, Ventricular septal ... OMIM:617164
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Agenesis of corpus callosum, Hydrocephalus, Absent septum pellucidum, Holoprosencephaly, Aqueduct... ORPHA:2182
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Absent radius, Isomerism, Atrioventricular canal defect, Hydronephrosis, Short h... OMIM:314390
Holoprosencephaly 9
Abnormal cortical gyration, Hypoplasia of the premaxilla, Panhypopituitarism, Optic nerve hypopla... OMIM:610829
Microcephaly-Capillary Malformation Syndrome
Cerebral atrophy, Hypoplasia of the corpus callosum, Patent foramen ovale, Progressive microcepha... OMIM:614261
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hypoplasia of the corpus callosum, Atrial septal defect, Vascular ring, Pachygyria, Ventricular s... OMIM:603387
Myopathy, Centronuclear, 5
Narrow mouth, Dilated cardiomyopathy, High palate, Micrognathia, Retrognathia OMIM:615959
15Q14 Microdeletion Syndrome
Biparietal narrowing, Short philtrum, Long philtrum, Atrial septal defect, Microcephaly, Ventricu... ORPHA:261190
Grange Syndrome
Short palm, Arterial stenosis, Ventricular septal defect, Patent ductus arteriosus ORPHA:79094
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic corpus callosum, Horseshoe kidney, Unilateral cleft palate, Unilateral cleft lip, Thic... OMIM:619103
3C Syndrome
Missing ribs, Abnormal mitral valve morphology, Hydronephrosis, High, narrow palate, Micrognathia... ORPHA:7
Multiple Acyl-Coa Dehydrogenase Deficiency
Lacticaciduria, 3-Methylglutaric aciduria, Polycystic kidney dysplasia, Abnormal heart morphology... ORPHA:26791
Distal Monosomy 15Q
Micrognathia, Multicystic kidney dysplasia, Hypoplastic left heart, Microcephaly, Mitral stenosis... ORPHA:1596
Joubert Syndrome 39
Occipital encephalocele, Hypoplastic left heart, Cerebellar vermis hypoplasia, Polycystic kidney ... OMIM:619562
Muscle-Eye-Brain Disease
Aplasia/Hypoplasia of the cerebellum, Holoprosencephaly, Meningocele, Hydrocephalus ORPHA:588
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplasia of penis, Micromelia, Hypoplastic left heart, Microcephaly, Ventricular septal defect,... ORPHA:2772
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic left... ORPHA:1455
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Broad secondary alveolar ridge, High palate, Ventricular septal defect, Secondary microcephaly ORPHA:3369
Cataract 31, Multiple Types
Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract OMIM:605387
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Renal cortical adenoma, Polycystic kidney dysplasia, Papillary renal cell carcin... OMIM:145001