Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
Cataract 13 With Adult I Phenotype |
|
Developmental cataract |
OMIM:116700 |
Cataract 37 |
|
Developmental cataract |
OMIM:614422 |
Cataract 45 |
|
Developmental cataract |
OMIM:616851 |
Cataract 38 |
|
Developmental cataract |
OMIM:614691 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
Cataract 44 |
|
Developmental cataract |
OMIM:616509 |
Aniridia 3 |
|
Cataract |
OMIM:617142 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Cerebellar hypoplasia, Porencephalic cyst, Atrial septal defect, Situs inversus totalis, Tetralog... |
OMIM:601322 |
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome |
|
Ectopia lentis |
ORPHA:2084 |
Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
Corneal Dystrophy, Groenouw Type I |
|
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy |
OMIM:121900 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Nephronophthisis 16 |
|
Patent ductus arteriosus, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysp... |
OMIM:615382 |
Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Ventricular septal defect, Micrognathia, Renal cyst, Hypospadias, ... |
OMIM:231060 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
Nephronophthisis 14 |
|
Nephronophthisis, Polycystic kidney dysplasia, Situs inversus totalis, Cerebellar vermis hypoplasia |
OMIM:614844 |
Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the thumb, Mandibular pr... |
ORPHA:1908 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Pupillary Membrane, Persistence Of |
|
Megalocornea, Persistent pupillary membrane, Developmental cataract |
OMIM:178900 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Juvenile cataract |
OMIM:212500 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract |
OMIM:300719 |
Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... |
OMIM:617912 |
Uncombable Hair Syndrome 2 |
|
Juvenile cataract |
OMIM:617251 |
Right Atrial Isomerism |
|
Right atrial isomerism, Abdominal situs ambiguus, Ventricular septal defect, Common atrium, Aorto... |
OMIM:208530 |
Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Hypoplastic left heart, ... |
OMIM:614779 |
Ciliary Dyskinesia, Primary, 40 |
|
Patent ductus arteriosus, Congenitally corrected transposition of the great arteries, Atrioventri... |
OMIM:618300 |
Cataract-Microcornea Syndrome |
|
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy |
ORPHA:1377 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Foveal Hypoplasia 1 |
|
Presenile cataracts |
OMIM:136520 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Patent ductus arteriosus, Double outlet right ventricle, Micrognathia, Atrial septal defect, Tetr... |
ORPHA:3304 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract |
OMIM:274205 |
Aorta Coarctation |
|
Patent ductus arteriosus, Aortic valve atresia, Perimembranous ventricular septal defect, Bicuspi... |
ORPHA:1457 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract |
ORPHA:2253 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Iris coloboma, Cataract |
OMIM:610092 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Dextrocardia, Congenital pseudoarthrosis of the clavicle |
ORPHA:66630 |
X-Linked Retinoschisis |
|
Cataract |
ORPHA:792 |
Heterotaxy, Visceral, 12, Autosomal |
|
Abdominal situs ambiguus, Patent foramen ovale, Double outlet right ventricle, Ventricular septal... |
OMIM:619702 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Periventricular leukomalacia, Microcephaly, Perimembranous ventricular septal defect |
OMIM:619170 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopathy, Hypo... |
OMIM:620135 |
Heterotaxy, Visceral, 2, Autosomal |
|
Double outlet right ventricle, Atrioventricular canal defect, Left atrial isomerism, Bilateral su... |
OMIM:605376 |
Heterotaxy, Visceral, 7, Autosomal |
|
Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Transposition ... |
OMIM:616749 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Corneal opacity, Ectopia lentis |
OMIM:613086 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract |
OMIM:156850 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect |
OMIM:212090 |
Galactosemia Ii |
|
Cataract |
OMIM:230200 |
Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Ventricular septal defect, Micrognathia, Missing ribs, Hydrocephal... |
OMIM:220210 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Patent ductus arteriosus, Double outlet right ventricle, Bilateral renal agenesis, Bicuspid aorti... |
OMIM:618845 |
Distal Monosomy 13Q |
|
Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Abnorm... |
ORPHA:1590 |
Megabladder, Congenital |
|
Patent ductus arteriosus, Ventricular septal defect, Stage 5 chronic kidney disease, Bicuspid aor... |
OMIM:618719 |
Congenital Heart Defects, Multiple Types, 4 |
|
Atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... |
OMIM:615779 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Cataract, Corneal arcus |
OMIM:618463 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Lambotte Syndrome |
|
Retrognathia, Semilobar holoprosencephaly, Ventricular septal defect, Microcephaly |
OMIM:245552 |
Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
Ventricular Septal Defect 1 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... |
OMIM:614429 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Mandibular prognathia, Arteriovenous malformation, Abnormal aortic arch morphology, Hypoplasia of... |
ORPHA:1110 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Cataract 47 |
|
Cataract, Microcornea |
OMIM:612018 |
Bardet-Biedl Syndrome 8 |
|
Hypospadias, Situs inversus totalis, Renal dysplasia |
OMIM:615985 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Vesicoureteral reflux, Abnormal aortic morphology, Cerebral cortical atrophy, Ventricular septal ... |
ORPHA:1166 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Retrognathia, Dental malocclusion, Patent ductus arteriosus, Mild microcephaly, Perimembranous ve... |
ORPHA:363444 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Ventricular septal defect, Foot oligodactyly, Anterior encephalocele, Short femur, Holoprosenceph... |
OMIM:601357 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Right aortic arch, Hypoplastic pulmonary veins, Ventricular septal... |
OMIM:613854 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Pericardial effusion, Enlarged kidney, Polycystic kidney dysplasia, Microcephaly, ... |
OMIM:613885 |
Holoprosencephaly 5 |
|
Syntelencephaly, Hydrocephalus, Semilobar holoprosencephaly, Lobar holoprosencephaly, Alobar holo... |
OMIM:609637 |
Spastic Paraparesis And Deafness |
|
Cataract |
OMIM:312910 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract |
OMIM:619813 |
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome |
|
Holoprosencephaly, Cerebral cortical atrophy, Microcephaly |
ORPHA:2523 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
Pseudotrisomy 13 Syndrome |
|
11 pairs of ribs, Encephalocele, Ventricular septal defect, Cerebellar hypoplasia, Hydrocephalus,... |
OMIM:264480 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
Agnathia-Otocephaly Complex |
|
Mandibular aplasia, Micrognathia, Secundum atrial septal defect, Holoprosencephaly, Situs inversu... |
OMIM:202650 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Aminoaciduria, Ventricular septal defect, Atrial septal defect, Situs inversus totalis, Stroke, C... |
OMIM:249270 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic v... |
ORPHA:477817 |
Meckel Syndrome 13 |
|
Polycystic kidney dysplasia, Micrognathia, Occipital encephalocele, Cerebellar hypoplasia |
OMIM:617562 |
Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Nuclear cataract, Zonular cataract, Developmental cataract |
OMIM:600881 |
Recombinant Chromosome 8 Syndrome |
|
Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Micrognathia,... |
OMIM:179613 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Situs inversus totalis, Recurrent sinusitis |
OMIM:300991 |
Developmental And Epileptic Encephalopathy 102 |
|
Situs inversus totalis, Microcephaly, Atrial septal defect |
OMIM:619881 |
Meacham Syndrome |
|
Patent ductus arteriosus, Conotruncal defect, Ventricular septal defect, Crossed fused renal ecto... |
ORPHA:3097 |
Marfanoid Habitus With Situs Inversus |
|
Aortic root aneurysm, Mandibular prognathia, Mitral valve prolapse, Situs inversus totalis, Persi... |
OMIM:609008 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Mandibular aplasia, Hypoplasia of penis, Holoprosencephaly,... |
ORPHA:990 |
Microhydranencephaly, X-Linked |
|
Holoprosencephaly, Microcephaly |
OMIM:306990 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus... |
ORPHA:2570 |
Mirror Movements 3 |
|
Situs inversus totalis |
OMIM:616059 |
Ciliary Dyskinesia, Primary, 3 |
|
Situs inversus totalis, Recurrent sinusitis |
OMIM:608644 |
Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... |
OMIM:617205 |
Cataract 9, Multiple Types |
|
Developmental cataract, Microcornea, Cataract, Iris coloboma, Progressive cataract |
OMIM:604219 |
Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
Nephronophthisis 2 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Absence of renal corticomedullary differentiatio... |
OMIM:602088 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia |
OMIM:618948 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Truncus arteriosus, Enlarged kidney, Cystic renal dysplasia, Hypertrophic cardiomyopathy, Situs i... |
OMIM:615415 |
Cataract 1, Multiple Types |
|
Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Microcornea |
OMIM:116200 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Situs inversus totalis, Recurrent sinusitis |
OMIM:620032 |
Ciliary Dyskinesia, Primary, 37 |
|
Right aortic arch, Situs inversus totalis, Dextrocardia |
OMIM:617577 |
Ciliary Dyskinesia, Primary, 17 |
|
Situs inversus totalis, Chronic sinusitis, Dextrocardia |
OMIM:614679 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, ... |
OMIM:613095 |
Megalocornea |
|
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... |
OMIM:309300 |
Tricuspid Atresia |
|
Patent foramen ovale, Ventricular septal defect, Transposition of the great arteries, Atrial sept... |
ORPHA:1209 |
Ciliary Dyskinesia, Primary, 25 |
|
Situs inversus totalis, Dextrocardia, Recurrent sinusitis, Microcephaly |
OMIM:615482 |
Thanatophoric Dysplasia Type 2 |
|
Patent ductus arteriosus, Encephalocele, Abnormality of the kidney, Hydrocephalus, Macrocephaly, ... |
ORPHA:93274 |
Ciliary Dyskinesia, Primary, 20 |
|
Situs inversus totalis, Recurrent sinusitis, Dextrocardia |
OMIM:615067 |
Distal Tetrasomy 15Q |
|
Retrognathia, Patent ductus arteriosus, Nephroblastoma, Micrognathia, Polycystic kidney dysplasia... |
ORPHA:314588 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Patent ductus arteriosus, Ventricular septal defect, Vascular ring, Atrial septal defect, Overrid... |
OMIM:601927 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Truncus arteriosus, Unilateral renal agenesis, Hydranencephaly, Microc... |
OMIM:601355 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Short 5th finger, Ventricular septal defect, Perimembranous ventricular septal defect, Secundum a... |
OMIM:600987 |
Renal Tubular Dysgenesis |
|
Proximal tubulopathy, Nephropathy, Multiple renal cysts, Microcephaly, Tetralogy of Fallot, Renot... |
ORPHA:3033 |
Cataract 8, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:115665 |
Feingold Syndrome 2 |
|
Ventricular septal defect, Short middle phalanx of the 5th finger, Short middle phalanx of the 2n... |
OMIM:614326 |
Anterior Segment Dysgenesis 8 |
|
Iris transillumination defect, Persistent pupillary membrane, Hypoplasia of the iris, Uveal ectro... |
OMIM:617319 |
Aortic Valve Disease 1 |
|
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Mitral stenosis, Bicusp... |
OMIM:109730 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Reduced renal corti... |
OMIM:617610 |
Indomethacin Embryofetopathy |
|
Multicystic kidney dysplasia, Ventricular septal defect, Abnormal renal tubule morphology, Atrial... |
ORPHA:1909 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Patent ductus arteriosus, Ventricular septal defect, Hydrocephalus, Hypoplasia ... |
ORPHA:77298 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Bicuspid aortic valve, Hydrocephalus, Secondary microcephaly, Microcephaly, Cerebral atrophy, Hyp... |
OMIM:615599 |
Meckel Syndrome, Type 7 |
|
Patent ductus arteriosus, Pancreatic cysts, Multicystic kidney dysplasia, Stage 5 chronic kidney ... |
OMIM:267010 |
Marden-Walker Syndrome |
|
Renal dysplasia, Micrognathia, Abnormality of the urinary system, Multicystic kidney dysplasia, V... |
ORPHA:2461 |
Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Dextrocardia, Chronic sinusitis, Ventricular septal defect |
OMIM:616037 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Mitral valve prolapse, Polycystic kidney dysplasia, Cerebral berry aneurysm, Renal... |
OMIM:173900 |
Cataract 22, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:609741 |
Snijders Blok-Campeau Syndrome |
|
Enamel hypoplasia, Perimembranous ventricular septal defect, Thin corpus callosum, Taurodontia, M... |
OMIM:618205 |
Ring Chromosome 21 Syndrome |
|
Abnormal heart morphology, Holoprosencephaly, Small hand, Microcephaly |
ORPHA:1445 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
11 pairs of ribs, Short toe, Short 5th metacarpal, Perimembranous ventricular septal defect, Spin... |
OMIM:617877 |
Aniridia-Intellectual Disability Syndrome |
|
Cataract, Aniridia, Ectopia lentis |
ORPHA:1068 |
Trisomy 17P |
|
Patent ductus arteriosus, Micrognathia, Polycystic kidney dysplasia, Hydrocephalus, Hypoplasia of... |
ORPHA:261290 |
Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
Sandestig-Stefanova Syndrome |
|
Retrognathia, Primary microcephaly, Perimembranous ventricular septal defect, Muscular ventricula... |
OMIM:618804 |
Ciliary Dyskinesia, Primary, 10 |
|
Situs inversus totalis, Recurrent sinusitis, Chronic sinusitis |
OMIM:612518 |
Feingold Syndrome Type 2 |
|
Short thumb, Short middle phalanx of finger, Ventricular septal defect, Microcephaly |
ORPHA:391646 |
Ciliary Dyskinesia, Primary, 23 |
|
Situs inversus totalis, Recurrent sinusitis |
OMIM:615451 |
Ciliary Dyskinesia, Primary, 38 |
|
Situs inversus totalis, Dextrocardia, Chronic sinusitis |
OMIM:618063 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Macrocephaly, Hydrocephalus, Abnor... |
ORPHA:83473 |
Congenital Disorder Of Glycosylation, Type Il |
|
Global brain atrophy, Abnormal cardiac septum morphology, Pericardial effusion, Polycystic kidney... |
OMIM:608776 |
Laterality Defects, Autosomal Dominant |
|
Heterotaxy, Situs inversus totalis |
OMIM:601086 |
Mmep Syndrome |
|
Mandibular prognathia, Ventricular septal defect, Microcephaly |
ORPHA:3434 |
Holoprosencephaly 14 |
|
Double outlet right ventricle, Aortic valve atresia, Ventricular septal defect, Aqueductal stenos... |
OMIM:619895 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Retrognathia, Micrognathia, Polycystic kidney dysplasia, Abnormal heart morphology, Microcephaly |
OMIM:263210 |
Cataract 3, Multiple Types |
|
Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
Ciliary Dyskinesia, Primary, 16 |
|
Situs inversus totalis, Chronic sinusitis |
OMIM:614017 |
Ciliary Dyskinesia, Primary, 24 |
|
Situs inversus totalis, Recurrent sinusitis |
OMIM:615481 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Ventricular septal defect, Thin corpus callosum, Atrial septal defect, Hypoplasia of the pons, Mi... |
OMIM:614249 |
Primary Ciliary Dyskinesia |
|
Double outlet right ventricle, Hydrocephalus, Atrial situs ambiguous, Chronic sinusitis, Anomalou... |
ORPHA:244 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Cerebellar hypoplasia, Hydrocephalus, Hydranencephaly, Holoprosencephaly, Cerebellar agenesis, Da... |
OMIM:617967 |
Ciliary Dyskinesia, Primary, 13 |
|
Situs inversus totalis, Recurrent sinusitis |
OMIM:613193 |
Ciliary Dyskinesia, Primary, 7 |
|
Situs inversus totalis, Dextrocardia |
OMIM:611884 |
Triploidy |
|
Meningocele, Aplasia/Hypoplasia of the corpus callosum, Abnormal cardiac septum morphology, Micro... |
ORPHA:3376 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Phenobarbital Embryopathy |
|
Mandibular prognathia, Abnormal mitral valve morphology, Aplasia/Hypoplasia of fingers, Hypospadi... |
ORPHA:1919 |
Optic Atrophy 3, Autosomal Dominant |
|
Cataract |
OMIM:165300 |
Diabetic Embryopathy |
|
Aplasia/Hypoplasia of the cerebellum, Abnormal aortic morphology, Spinal dysraphism, Aplasia/Hypo... |
ORPHA:1926 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Situs inversus totalis, Abdominal situs inversus, Chronic sinusitis, Dextrocardia |
OMIM:619607 |
Ciliary Dyskinesia, Primary, 9 |
|
Situs inversus totalis, Recurrent sinusitis, Chronic sinusitis |
OMIM:612444 |
Dextrocardia |
|
Abnormality of abdominal situs, Hydrocephalus, Abnormality of the pulmonary artery, Abnormality o... |
ORPHA:1666 |
Exfoliation Syndrome |
|
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... |
OMIM:177650 |
Ciliary Dyskinesia, Primary, 27 |
|
Situs inversus totalis, Recurrent sinusitis, Chronic sinusitis |
OMIM:615504 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Unilateral vertebral artery hypoplasia, Myelomeningocele, Aplasia of posterior communicating arte... |
OMIM:613686 |
Bardet-Biedl Syndrome 17 |
|
Stage 5 chronic kidney disease, Renal cyst, Situs inversus totalis, Dextrocardia, Polyuria, Short... |
OMIM:615994 |
Partial Atrioventricular Septal Defect |
|
Patent ductus arteriosus, Double outlet right ventricle, Partial atrioventricular canal defect, B... |
ORPHA:1330 |
Congenital Heart Defects, Multiple Types, 2 |
|
Subvalvular aortic stenosis, Ventricular septal defect, Bicuspid aortic valve, Aortic aneurysm, A... |
OMIM:614980 |
Fetal Minoxidil Syndrome |
|
Micrognathia, Ventricular septal defect |
ORPHA:1918 |
Hypoglossia With Situs Inversus |
|
Micrognathia, Situs inversus totalis |
OMIM:612776 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Megalocornea, Deep anterior chamber, Ectopia lentis, Microspherophakia, Iridodonesis |
OMIM:251750 |
Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Atrioventricular canal defect, Abdominal situs inversus, Right atria... |
OMIM:306955 |
Conotruncal Heart Malformations |
|
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Complete atrioventricula... |
OMIM:217095 |
Mungan Syndrome |
|
Renal hypoplasia, Vesicoureteral reflux, Pulmonic stenosis, Perimembranous ventricular septal defect |
OMIM:611376 |
Aniridia 2 |
|
Lens subluxation, Cataract, Iris coloboma, Aniridia |
OMIM:617141 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Renal hypoplasia/aplasia, Missing ribs... |
ORPHA:3186 |
Myopia 17, Autosomal Dominant |
|
Presenile cataracts |
OMIM:608367 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrioventricular canal defect, Ascending tubular aorta aneurysm, Abdominal situs ambiguus, Abdomi... |
OMIM:270100 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia, Vascular dilatation |
OMIM:614859 |
Bardet-Biedl Syndrome 18 |
|
Cataract |
OMIM:615995 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Atrioventricular canal defect, Short 5th finger, Truncus arteriosus, Micrognathia, Optic nerve hy... |
ORPHA:508498 |
Ciliary Dyskinesia, Primary, 28 |
|
Situs inversus totalis, Recurrent sinusitis |
OMIM:615505 |
Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Hypoplasia of the brainstem, Encephalocele, Cerebellar hypoplasia, Agyria, Hydrocephalus, Hypopla... |
OMIM:253800 |
Ciliary Dyskinesia, Primary, 35 |
|
Situs inversus totalis, Abdominal situs ambiguus, Chronic sinusitis |
OMIM:617092 |
Acalvaria |
|
Spina bifida, Holoprosencephaly, Hydrocephalus, Aplasia/Hypoplasia of the cerebellum |
ORPHA:945 |
Adams-Oliver Syndrome 4 |
|
Aplasia of the distal phalanges of the toes, Short toe, Patent ductus arteriosus, Ventricular sep... |
OMIM:615297 |
Mental retardation, x-linked, syndromic, Turner type |
|
Holoprosencephaly, Macrocephaly |
OMIM:300706 |
Distal Monosomy 7Q36 |
|
Micrognathia, Holoprosencephaly, Hypoplasia of penis, Microcephaly |
ORPHA:1636 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Ciliary Dyskinesia, Primary, 18 |
|
Situs inversus totalis, Abdominal situs ambiguus, Recurrent sinusitis |
OMIM:614874 |
Meckel Syndrome, Type 4 |
|
Meningocele, Encephalocele, Ventricular septal defect, Anencephaly, Hydrocephalus, Atrial septal ... |
OMIM:611134 |
Ciliary Dyskinesia, Primary, 2 |
|
Situs inversus totalis, Dextrocardia, Sinusitis |
OMIM:606763 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Cataract, Microcornea |
OMIM:619082 |
Hyperferritinemia With Or Without Cataract |
|
Pulverulent cataract, Nuclear cataract |
OMIM:600886 |
Ciliary Dyskinesia, Primary, 32 |
|
Situs inversus totalis, Chronic sinusitis |
OMIM:616481 |
Ciliary Dyskinesia, Primary, 12 |
|
Situs inversus totalis, Chronic sinusitis |
OMIM:612650 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Situs inversus totalis, Partial atrioventricular canal defect, Chronic sinusitis, Primum atrial s... |
OMIM:619608 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Abnormal aortic morphology, Truncus arteriosus, Ventricular septal defect, Renal hypoplasia/aplas... |
ORPHA:2516 |
Nemaline Myopathy 9 |
|
Micrognathia, Ventricular septal defect |
OMIM:615731 |
Eng-Strom Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology |
ORPHA:1937 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Hydroc... |
ORPHA:157 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Tubulointerstitial nephritis, Polycystic kidney dysplasia, Hydrocephalus, Dicarboxylic aciduria, ... |
ORPHA:228308 |
Joubert Syndrome 18 |
|
Retrognathia, Ventricular septal defect, Arrhinencephaly, Renal cyst, Horseshoe kidney, Occipital... |
OMIM:614815 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Patent ductus arteriosus, Pancreatic cysts, Renal dysplasia, Stage 5 chronic kidney disease, Enla... |
OMIM:208540 |
Atrial Septal Defect 2 |
|
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Atrial septal... |
OMIM:607941 |
Leber Congenital Amaurosis 7 |
|
Cataract, Keratoconus |
OMIM:613829 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Histiocytoid cardiomyopathy, Ventricular septal defect, Hydrocephalus, Atrial septal defect, Hypo... |
OMIM:309801 |
Vissers-Bodmer Syndrome |
|
Holoprosencephaly, Decreased head circumference |
OMIM:619033 |
Heart Defects-Limb Shortening Syndrome |
|
Mesomelic/rhizomelic limb shortening, Ventricular septal defect, Abnormal mitral valve morphology... |
ORPHA:1354 |
Myopia 28, Autosomal Recessive |
|
Cataract |
OMIM:619781 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul... |
OMIM:613759 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia, Occipital encephalocele |
OMIM:615397 |
Cardiomyopathy, Dilated, 1S |
|
Interstitial cardiac fibrosis, Perimembranous ventricular septal defect, Ebstein anomaly of the t... |
OMIM:613426 |
Cataract 20, Multiple Types |
|
Cortical cataract, Sutural cataract, Lamellar cataract, Membranous cataract |
OMIM:116100 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Patent ductus arteriosus, Patent foramen ovale, Truncus arteriosus, Ventricular septal defect, Pe... |
OMIM:600001 |
Ciliary Dyskinesia, Primary, 26 |
|
Situs inversus totalis, Recurrent sinusitis |
OMIM:615500 |
Cataract 5, Multiple Types |
|
Lamellar cataract, Zonular cataract, Pulverulent cataract, Anterior polar cataract, Nuclear cataract |
OMIM:116800 |
Meckel Syndrome 14 |
|
Retrognathia, Micrognathia, Polycystic kidney dysplasia, Microretrognathia, Holoprosencephaly, Si... |
OMIM:619879 |
Ciliary Dyskinesia, Primary, 14 |
|
Heterotaxy, Situs inversus totalis, Chronic sinusitis |
OMIM:613807 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Retrognathia, Patent ductus arteriosus, Crossed fused renal ectopia, Ventricular septal defect, H... |
OMIM:618142 |
Cataract 17, Multiple Types |
|
Nuclear cataract, Pulverulent cataract, Developmental cataract, Microcornea |
OMIM:611544 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Patent ductus arteriosus, Carotid artery stenosis, Ascending tubular aorta aneurysm, Posterior ce... |
OMIM:132900 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Retrognathia, Perimembranous ventricular septal defect, Neurogenic bladder, Micrognathia, Secundu... |
OMIM:608779 |
Scimitar Syndrome |
|
Truncus arteriosus, Abnormal vena cava morphology, Double outlet right ventricle, Ventricular sep... |
ORPHA:185 |
Lethal Congenital Contracture Syndrome 10 |
|
Micrognathia, Overriding aorta, Cardiomegaly, Ventricular septal defect |
OMIM:617022 |
Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the corpus callosum, Renal hypoplasia/apla... |
ORPHA:1988 |
Ectopia Lentis Et Pupillae |
|
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Bardet-Biedl Syndrome 19 |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Hypoplastic left heart... |
OMIM:615996 |
Maternal Phenylketonuria |
|
Double outlet right ventricle, Ventricular septal defect, Micrognathia, Coarctation of aorta, Hyp... |
ORPHA:2209 |
Polycystic Kidney Disease 7 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal atrophy, Multiple renal cysts,... |
OMIM:620056 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Abnormal cardiac septum morphology, Hyp... |
ORPHA:2166 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Micrognathia, Atrial septal defect, Hypospadias, Microcephaly, Tetralo... |
ORPHA:1913 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Patent ductus arteriosus, Short toe, Short 5th metacarpal, Bicuspid aortic valve, Short finger, P... |
OMIM:604381 |
Pagod Syndrome |
|
Meningocele, Abnormal aortic morphology, Multicystic kidney dysplasia, Encephalocele, Spina bifid... |
ORPHA:991 |
Coats Disease |
|
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology |
ORPHA:190 |
Chromosome 9P Deletion Syndrome |
|
Retrognathia, Patent ductus arteriosus, Ventricular septal defect, Perimembranous ventricular sep... |
OMIM:158170 |
Phelan-Mcdermid Syndrome |
|
Patent ductus arteriosus, Dental malocclusion, Vesicoureteral reflux, Abnormal periventricular wh... |
OMIM:606232 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Ventricular septal defect, Cerebellar hypoplasia, Cystic renal dysplasia, Ectopic kidney, Seconda... |
OMIM:613730 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Cerebellar hypoplasia, Atrial septal defect, ... |
OMIM:612946 |
Holoprosencephaly 11 |
|
Holoprosencephaly, Microcephaly, Agenesis of corpus callosum |
OMIM:614226 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Bilateral superior vena cava with bridging vein, Abnormal left ventricular outflow tract morpholo... |
ORPHA:216694 |
Holoprosencephaly 13, X-Linked |
|
Patent ductus arteriosus, Double outlet right ventricle, Patent foramen ovale, Ventricular septal... |
OMIM:301043 |
8P23.1 Duplication Syndrome |
|
Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis |
ORPHA:251076 |
Ciliary Dyskinesia, Primary, 22 |
|
Situs inversus totalis, Dextrocardia, Recurrent sinusitis |
OMIM:615444 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Patent ductus arteriosus, Double outlet right ventricle, Unbalanced atrioventricular canal defect... |
OMIM:619657 |
Ellis Van Creveld Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Delayed eruption of teeth, Renal hypopl... |
ORPHA:289 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Patent ductus arteriosus, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect |
OMIM:249670 |
Congenital Gerbode Defect |
|
Bacterial endocarditis, Vascular dilatation, Ventricular septal defect, Perimembranous ventricula... |
ORPHA:99095 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Patent ductus arteriosus, Bicuspid aortic valve, Short 5th metacarpal, Pseudocoarctation of the a... |
ORPHA:228190 |
Laubry-Pezzi Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ascending tubular aorta aneurysm, Ventricular sep... |
ORPHA:99094 |
Short Rib-Polydactyly Syndrome |
|
Short tibia, Urogenital sinus anomaly, Disproportionate shortening of the tibia, Hepatic cysts, A... |
ORPHA:1505 |
Anterior Segment Dysgenesis 7 |
|
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... |
OMIM:269400 |
Odontochondrodysplasia 1 |
|
Dentinogenesis imperfecta, Short metacarpal, Delayed eruption of teeth, Polycystic kidney dysplas... |
OMIM:184260 |
Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Ventricular septal defect, Transposition of the great arteries, Bi... |
OMIM:613751 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Bicuspid aortic valve, Hydrocephalus, Secondary microcephaly, Cerebral atrophy, Hypoplasia of the... |
ORPHA:397951 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Patent ductus arteriosus, Double outlet right ventricle, Hydrocephalus, Prominence of the premaxi... |
OMIM:614886 |
Apert Syndrome |
|
Rhizomelic arm shortening, Dental malocclusion, Mandibular prognathia, Ventricular septal defect,... |
OMIM:101200 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Micrognathia, Ventricular septal defect, Atrial septal defect |
OMIM:608227 |
Verheij Syndrome |
|
Short 5th finger, Abnormal cardiac septum morphology, Renal agenesis, Renal cyst, Microcephaly, C... |
OMIM:615583 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Holoprosencephaly, Renal insufficiency, Microcephaly, Abnormal cerebral vascular morphology |
ORPHA:2165 |
Catel-Manzke Syndrome |
|
Micrognathia, Malar flattening, Ventricular septal defect, Atrial septal defect |
ORPHA:1388 |
Joubert Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Biparietal narrowing, Hydrocephalus, Ce... |
ORPHA:475 |
Peters Anomaly |
|
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... |
ORPHA:708 |
Beaulieu-Boycott-Innes Syndrome |
|
Patent ductus arteriosus, Dental malocclusion, Ventricular septal defect, Recurrent urinary tract... |
OMIM:613680 |
Cataract 41 |
|
Nuclear cataract |
OMIM:116400 |
Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
Cataract 18 |
|
Nuclear cataract |
OMIM:610019 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Interrupted aortic arch, Atrial septal defect, Ren... |
OMIM:617478 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Ventricular septal defect, Perimembranous ventricular septal defect, Renal... |
OMIM:301040 |
Short-Rib Thoracic Dysplasia 12 |
|
Patent ductus arteriosus, Short toe, Patent foramen ovale, Short foot, Natal tooth, Short ribs, V... |
OMIM:269860 |
Cataract 39, Multiple Types |
|
Anterior polar cataract, Lamellar cataract, Developmental cataract |
OMIM:615188 |
Retinitis Pigmentosa 40 |
|
Cataract |
OMIM:613801 |
Halperin-Birk Syndrome |
|
Micrognathia, Semilobar holoprosencephaly, Agenesis of corpus callosum, Perimembranous ventricula... |
OMIM:618651 |
Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect, Microcephaly |
ORPHA:2515 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Retrognathia, Double outlet right ventricle, Vesicoureteral reflux, Global brain atrophy, Ventric... |
OMIM:301056 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect, Cerebral atrophy |
ORPHA:306550 |
Thomas Syndrome |
|
Hypoplastic left heart, Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3316 |
Cataract 2, Multiple Types |
|
Developmental cataract, Microcornea, Aculeiform cataract, Nuclear cataract, Nuclear pulverulent c... |
OMIM:604307 |
Cataract 21, Multiple Types |
|
Cortical pulverulent cataract, Cerulean cataract, Microcornea, Iris coloboma, Peters anomaly, Cor... |
OMIM:610202 |
Ciliary Dyskinesia, Primary, 19 |
|
Situs inversus totalis, Recurrent sinusitis |
OMIM:614935 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract |
OMIM:273680 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Alagille Syndrome 2 |
|
Renal insufficiency, Renal tubular acidosis, Hematuria, Atrial septal defect, Renal cyst, Periphe... |
OMIM:610205 |
Microphthalmia, Syndromic 12 |
|
Retrognathia, Micrognathia, Hypoplastic left atrium, Ventricular septal defect |
OMIM:615524 |
Rhizomelic Syndrome |
|
Micrognathia, Pulmonic stenosis, Rhizomelia, Microcephaly |
OMIM:268250 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Coarctation of aort... |
ORPHA:3426 |
Pellagra-Like Syndrome |
|
Cataract |
OMIM:260650 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Antenatal intracerebral hemorrhage, Renal dysplasia, Enlarged kidney, Polycystic kidney dysplasia... |
OMIM:608836 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Spina bifida, Anencephaly, Hypoplastic left heart, Aplasia/Hypoplasia ... |
ORPHA:2476 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Patent ductus arteriosus, Patent foramen ovale, Double outlet right ventricle, Ventricular septal... |
OMIM:618316 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Patent ductus arteriosus, Vascular dilatation, Hydrocephalus, Macrocephaly, Microretrognathia, Po... |
OMIM:220220 |
Orofaciodigital Syndrome I |
|
Pancreatic cysts, Enamel hypoplasia, Vascular dilatation, Myelomeningocele, Hepatic cysts, Abnorm... |
OMIM:311200 |
Leber Congenital Amaurosis 6 |
|
Cataract, Keratoconus |
OMIM:613826 |
Ventricular Septal Defect 3 |
|
Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect |
OMIM:614432 |
Ciliary Dyskinesia, Primary, 15 |
|
Situs inversus totalis, Chronic sinusitis |
OMIM:613808 |
Aortic Valve Disease 3 |
|
Aortic root aneurysm, Bicuspid aortic valve, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Dilatation of the cerebral artery, Polycystic kidney dysplasia, Hepatic cysts |
OMIM:600666 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Patent ductus arteriosus, Perimembranous ventricular septal defect |
OMIM:608104 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... |
ORPHA:261243 |
Ciliary Dyskinesia, Primary, 5 |
|
Situs inversus totalis, Recurrent sinusitis |
OMIM:608647 |
Aniridia And Absent Patella |
|
Cataract, Aniridia |
OMIM:106220 |
Spinal Muscular Atrophy, Type I |
|
Ventricular septal defect, Atrial septal defect |
OMIM:253300 |
Microform Holoprosencephaly |
|
Renal agenesis, Hypoplasia of penis, Holoprosencephaly, Microcephaly, Tetralogy of Fallot, Agenes... |
ORPHA:280200 |
Orofaciodigital Syndrome Xiv |
|
Micrognathia, Holoprosencephaly, Polymicrogyria, Ventricular septal defect, Short ribs, Supernume... |
OMIM:615948 |
Monosomy 18P |
|
Carious teeth, Micrognathia, Holoprosencephaly, Microcephaly |
ORPHA:1598 |
Mosaic Variegated Aneuploidy Syndrome |
|
Subvalvular aortic stenosis, Nephroblastoma, Abnormal aortic morphology, Multicystic kidney dyspl... |
ORPHA:1052 |
Meckel Syndrome |
|
Pancreatic cysts, Urethral atresia, Multicystic kidney dysplasia, Encephalocele, Aplasia/Hypoplas... |
ORPHA:564 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Periventricular leukomalacia, Ventricular septal defect, Atrial septal defect, Microcephaly |
ORPHA:357225 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Cataract |
ORPHA:2278 |
Ciliary Dyskinesia, Primary, 1 |
|
Absent frontal sinuses, Situs inversus totalis, Chronic sinusitis, Communicating hydrocephalus |
OMIM:244400 |
Pallister-Hall Syndrome |
|
Patent ductus arteriosus, Short 4th metacarpal, Ventricular septal defect, Natal tooth, Renal dys... |
OMIM:146510 |
Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
Cataract 43 |
|
Posterior subcapsular cataract |
OMIM:616279 |
Hypoplastic Left Heart Syndrome 1 |
|
Hypoplastic left heart, Aortic valve stenosis, Coarctation of aorta |
OMIM:241550 |
Cataract 30, Multiple Types |
|
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract |
OMIM:116300 |
Anterior Segment Dysgenesis 1 |
|
Ocular anterior segment dysgenesis, Posterior polar cataract, Microcornea, Peters anomaly, Opacif... |
OMIM:107250 |
Joubert Syndrome 39 |
|
Hypoplastic left heart, Occipital encephalocele, Polycystic kidney dysplasia, Cerebellar vermis h... |
OMIM:619562 |
Isolated Dandy-Walker Malformation |
|
Aplasia/Hypoplasia of the corpus callosum, Tetralogy of Fallot, Encephalocele, Dandy-Walker malfo... |
ORPHA:217 |
Isolated Aniridia |
|
Cataract, Peters anomaly, Aniridia |
ORPHA:250923 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Cerebellar hypoplasia, Holoprosencephaly, Ventricular septal defect, Microcephaly |
OMIM:612530 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Holoprosencephaly |
OMIM:611638 |
14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Micrognathia, Ventricular septal defect |
ORPHA:261120 |
Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Ventricular septal defect, Micrognathia, Macrocephaly, Pericallosal lipoma, Microc... |
ORPHA:398156 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Situs inversus totalis |
OMIM:615434 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Polycystic kidney dysplasia, Micrognathia, Aminoaciduria, Abnormal heart morphology |
OMIM:214110 |
Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
Diamond-Blackfan Anemia 6 |
|
Retrognathia, Ventricular hypertrophy, Patent ductus arteriosus, Ventricular septal defect, Micro... |
OMIM:612561 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Iris coloboma |
OMIM:120433 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Short ribs, Micrognathia, Polycystic kidney dysplasia, Hydrocephalus, Missing ribs, Micromelia, H... |
OMIM:617866 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Absent septum pellucidum, Agenesis of corp... |
ORPHA:2182 |
16P13.11 Microdeletion Syndrome |
|
Ventricular septal defect, Atrial septal defect, Holoprosencephaly, Microcephaly, Agenesis of cor... |
ORPHA:261236 |
Hartsfield Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Aplasia/Hypoplasia of the radius, Lobar... |
ORPHA:2117 |
Jacobsen Syndrome |
|
Ventricular septal defect, Micrognathia, Missing ribs, Hydrocephalus, Macrocephaly, Atrial septal... |
OMIM:147791 |
Grange Syndrome |
|
Patent ductus arteriosus, Short palm, Ventricular septal defect, Arterial stenosis |
ORPHA:79094 |
Craniofacial Dyssynostosis With Short Stature |
|
Patent ductus arteriosus, Ventricular septal defect, Hydrocephalus, Hypospadias, Horseshoe kidney... |
OMIM:218350 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Polycystic kidney dysplasia, Macrocephaly, Lacticaciduria, Abnormal heart morphology, Glutaric ac... |
ORPHA:26791 |
Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Atrial septal defect, Microcephaly |
ORPHA:3469 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hypoplasia of the frontal lobes, Micrognathia, Short femur, Limb undergrowth, Polymicrogyria, Pat... |
OMIM:210710 |
Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Cerebral hemorrhage, Cerebellar hypoplasia, Bicuspid aortic valve, Thin... |
OMIM:300049 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Patent ductus arteriosus, Ventricular septal defect, Abnormal mitral valve morphology, Levotransp... |
ORPHA:860 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Micrognathia, Interrupted aortic arch, Hypoplastic left heart, Urethra... |
ORPHA:1727 |
Bardet-Biedl Syndrome 10 |
|
Renal cyst, Renal insufficiency |
OMIM:615987 |
49,Xxxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Renal dysplasia, Renal hypoplasia/aplasia, Arrh... |
ORPHA:96264 |
Steinfeld Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Unilateral renal dysplasia, Missing ri... |
OMIM:184705 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Nephroblastoma, Ventricular septal defect, Cavum septum pellucidum, Hydrocephalus, Megalencephaly... |
OMIM:602501 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Patent ductus arteriosus, Ventricular septal defect, Cerebellar hypoplasia, Hypoplastic left hear... |
OMIM:616276 |
Trisomy 18 |
|
Aplasia/Hypoplasia of the corpus callosum, Ventricular septal defect, Spina bifida, Anencephaly, ... |
ORPHA:3380 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glomerular filtration rate... |
OMIM:618061 |
Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Nuclear cataract, Anterior subcapsular cataract |
OMIM:605387 |
Charge Syndrome |
|
Micrognathia, Secundum atrial septal defect, Holoprosencephaly, Double outlet right ventricle, Ve... |
OMIM:214800 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Thick cerebral cortex, Abn... |
ORPHA:261183 |
Atrioventricular Septal Defect 5 |
|
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Agenesis of corpus callosum, Micropenis, Alobar holoprosencephaly |
OMIM:615433 |
Autosomal Dominant Coarctation Of Aorta |
|
Patent ductus arteriosus, Aortic arch aneurysm, Ventricular septal defect, Abnormal aortic arch m... |
ORPHA:1455 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Cataract, Corneal dystrophy |
ORPHA:1369 |
Hypogonadism-Cataract Syndrome |
|
Cataract |
OMIM:240950 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial septal defect, Left ventr... |
OMIM:108900 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Ventricular septal defect, Hypoplasia of penis, Hypoplastic... |
ORPHA:2772 |
Lambert Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Malar flattening, Hypospadias, Ventricular septal defect |
ORPHA:1296 |
Muscle-Eye-Brain Disease |
|
Meningocele, Holoprosencephaly, Hydrocephalus, Aplasia/Hypoplasia of the cerebellum |
ORPHA:588 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Patent ductus arteriosus, Bicuspid aortic valve, Microcephaly, Atrial septal defect |
OMIM:613355 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Nephroblastoma, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Renal cortical adeno... |
OMIM:145001 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Patent ductus arteriosus, Patent foramen ovale, Abnormal periventricular white matter morphology,... |
ORPHA:500159 |
Cataract 48 |
|
Cataract |
OMIM:618415 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Vesicoureteral reflux, Renal dysplasia, Cystic renal dysplasia, Renal insufficiency, Hyperechogen... |
OMIM:601331 |
Catel-Manzke Syndrome |
|
Short toe, Ventricular septal defect, Short metacarpal, Micrognathia, Short femur, Coarctation of... |
OMIM:616145 |
Atrial Septal Defect 1 |
|
Subvalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot with pulmonary atresi... |
OMIM:108800 |
Amoebic Keratitis |
|
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... |
ORPHA:67043 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect |
OMIM:614876 |
Anterior Segment Dysgenesis 2 |
|
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... |
OMIM:610256 |
Congenital Varicella Syndrome |
|
Cataract |
ORPHA:291 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Patent ductus arteriosus, Ventricular septal defect, Micrognathia, Hypoplasia of penis, Microceph... |
ORPHA:452 |
Bardet-Biedl Syndrome 16 |
|
Renal dysplasia, Stage 5 chronic kidney disease, Renal agenesis, Renal cyst, Renal insufficiency |
OMIM:615993 |
Hajdu-Cheney Syndrome |
|
Patent ductus arteriosus, Dental malocclusion, Ventricular septal defect, Micrognathia, Polycysti... |
OMIM:102500 |
Nephrotic Syndrome, Type 11 |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Ventricular septal defect, Nephrotic syn... |
OMIM:616730 |
Autosomal Dominant Keratitis |
|
Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neovascularization, Micr... |
ORPHA:2334 |
Exudative Vitreoretinopathy 6 |
|
Cataract |
OMIM:616468 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Delayed eruption of permanent teeth, Ventricular septal defect, Microcephaly |
OMIM:618506 |
Renpenning Syndrome 1 |
|
Mandibular prognathia, Ventricular septal defect, Micrognathia, Phimosis, Atrial septal defect, H... |
OMIM:309500 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Lens subluxation, Cataract |
OMIM:614292 |
Fanconi Anemia, Complementation Group O |
|
Absent thumb, Hypoplasia of the radius, Stage 5 chronic kidney disease, Renal cyst, Abnormal hear... |
OMIM:613390 |
Williams Syndrome |
|
Aortic arch aneurysm, Cerebral cortical atrophy, Abnormal cardiac septum morphology, Abnormal car... |
ORPHA:904 |
Prune Belly Syndrome |
|
Patent ductus arteriosus, Vesicoureteral reflux, Urogenital sinus anomaly, Multicystic kidney dys... |
ORPHA:2970 |
Meckel Syndrome, Type 1 |
|
Patent ductus arteriosus, Vascular dilatation, Hypoplasia of the bladder, Abnormal cardiac septum... |
OMIM:249000 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Malar flattening, Mandibular prognathia, Ventricular septal defect, Aplasia/Hypoplasia of the dis... |
ORPHA:94066 |
Aortic Valve Disease 2 |
|
Aortic tortuosity, Patent foramen ovale, Bicuspid aortic valve, Aortic aneurysm, Calcification of... |
OMIM:614823 |
Hypoplastic Left Heart Syndrome 2 |
|
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect |
OMIM:614435 |
Holoprosencephaly |
|
Aplasia/Hypoplasia of the cerebellum, Abnormality of the urinary system, Abnormal aortic morpholo... |
ORPHA:2162 |
Nephronophthisis 20 |
|
Vesicoureteral reflux, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Renal insuff... |
OMIM:617271 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Ventricular septal defect, Cerebellar hypoplasia, Micrognathia, Polycystic kidney dysplasia, Macr... |
OMIM:614866 |
Cataract 15, Multiple Types |
|
Cortical cataract, Lamellar cataract, Nuclear cataract |
OMIM:615274 |
Femoral-Facial Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Aplasia/hypoplasia of the femur, Micrognathia, Pol... |
OMIM:134780 |
Cataract 33, Multiple Types |
|
Cortical cataract, Lamellar cataract, Nuclear cataract |
OMIM:611391 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:619717 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short ribs, Polycystic kidney dysplasia, Renal cyst, Hypospadias, Mesomelia, Micromelia, Renal hy... |
OMIM:614091 |
22Q11.2 Deletion Syndrome |
|
Meningocele, Truncus arteriosus, Micrognathia, Retinal arteriolar tortuosity, Abnormal aortic arc... |
ORPHA:567 |
Isotretinoin-Like Syndrome |
|
Patent ductus arteriosus, Conotruncal defect, Micrognathia, Bicuspid aortic valve, Hydrocephalus,... |
ORPHA:2306 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the fibula, Ventricular septal defect, Micrognathia, Hypoplasia of penis, H... |
ORPHA:2256 |
Cornea Guttata With Anterior Polar Cataracts |
|
Anterior polar cataract |
OMIM:121390 |
Syndromic Diarrhea |
|
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Polycystic kidney dys... |
ORPHA:84064 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of the frontal lobes, Global brain atrophy, Micrognathia, Hypertrophic cardiomyopathy,... |
OMIM:270400 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Atrial septal defect, Ectopic kidney, Abnormal hea... |
ORPHA:401935 |
Galloway-Mowat Syndrome 7 |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Ventricular septal defect, Nephrotic syn... |
OMIM:618348 |
Smith-Lemli-Opitz Syndrome |
|
Atrioventricular canal defect, Micrognathia, Biparietal narrowing, Holoprosencephaly, Abnormal de... |
ORPHA:818 |
X-Linked Endothelial Corneal Dystrophy |
|
Nuclear cataract, Corneal opacity, Band keratopathy, Abnormal corneal endothelium morphology |
ORPHA:293621 |
Li-Campeau Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Patellar hypoplasia, Ventricular septal defect, A... |
OMIM:619189 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Pancreatic cysts, Multiple small medullary renal cysts, Enlarged kidney, Polycystic kidney dyspla... |
OMIM:263200 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Proximal tubulopathy, Renal cortical cysts, Glycosuria, Polycystic kidney dysplasia, Macrocephaly... |
OMIM:231680 |
Kahrizi Syndrome |
|
Cataract, Iris coloboma |
OMIM:612713 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Short femoral neck, Lobar holoprosencephaly, Microcephaly, Enamel agenesis, Tetralogy of Fallot |
OMIM:614701 |
Autosomal Dominant Polycystic Kidney Disease |
|
Aortic root aneurysm, Pancreatic cysts, Hepatic cysts, Recurrent urinary tract infections, Stage ... |
ORPHA:730 |
Emanuel Syndrome |
|
Patent ductus arteriosus, Broad jaw, Truncus arteriosus, Delayed eruption of primary teeth, Ventr... |
OMIM:609029 |
Say Syndrome |
|
Micrognathia, Cystic renal dysplasia, Proximal renal tubular acidosis, Microcephaly, Short distal... |
OMIM:181180 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Cataract |
ORPHA:2310 |
Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
Microcephaly-Capillary Malformation Syndrome |
|
Patent foramen ovale, Vesicoureteral reflux, Ventricular septal defect, Atrial septal defect, Hyp... |
OMIM:614261 |
Hepatorenocardiac Degenerative Fibrosis |
|
Renal interstitial fibrosis, Enlarged kidney, Renal cyst, Hypertrophic cardiomyopathy, Reduced re... |
OMIM:619902 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Mitral valve pro... |
ORPHA:371428 |
Aorto-Ventricular Tunnel |
|
Aortic root aneurysm, Ventricular hypertrophy, Abnormal aortic morphology, Aorto-ventricular tunn... |
ORPHA:3400 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventricular septal defect, Vascular ring, Thick corpus callosum, Hydrocephalus, Macrocephaly, Atr... |
OMIM:603387 |
Proboscis Lateralis |
|
Abnormal paranasal sinus morphology, Patent ductus arteriosus, Ureteral agenesis, Ventricular sep... |
ORPHA:141099 |
Edict Syndrome |
|
Hypoplasia of the iris, Microcornea, Astigmatism, Anterior polar cataract, Keratoconus |
OMIM:614303 |
Joubert Syndrome 14 |
|
Meningocele, Hypoplasia of the brainstem, Encephalocele, Ventricular septal defect, Hydrocephalus... |
OMIM:614424 |
Polysyndactyly With Cardiac Malformation |
|
Renal cyst, Hepatic cysts, Ventricular septal defect, Atrial septal defect |
OMIM:263630 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Short distal phalanx of finger, Holoprosencephaly, Microcephaly, Hypoplastic vertebral bodies |
ORPHA:2163 |
Rubinstein-Taybi Syndrome 1 |
|
Hyperintensity of cerebral white matter on MRI, Micrognathia, Spina bifida occulta, Aortic isthmu... |
OMIM:180849 |
Chromosome 13Q14 Deletion Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Micrognathia, Holoprosencephaly, Hypoplasia of t... |
OMIM:613884 |
Endocrine-Cerebroosteodysplasia |
|
Aplasia/Hypoplasia of the cerebellum, Focal polymicrogyria, Natal tooth, Microphallus, Micrognath... |
OMIM:612651 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Cataract |
OMIM:183800 |