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 |
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Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... |
ORPHA:708 |
Fadd-Related Immunodeficiency |
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Pulmonary artery atresia, Cerebral atrophy, Ventricular septal defect |
ORPHA:306550 |
Autosomal Recessive Amelia |
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Non-midline cleft lip, Amelia involving the upper limbs, Hypoplasia of penis, Micrognathia, Oral ... |
ORPHA:1027 |
Fanconi Anemia, Complementation Group O |
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Absent thumb, Renal cyst, Hydronephrosis, Hypoplasia of the radius, Short thumb, Abnormal heart m... |
OMIM:613390 |
Mosaic Variegated Aneuploidy Syndrome |
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Atrial septal defect, Subvalvular aortic stenosis, Aplasia/Hypoplasia of the corpus callosum, Mic... |
ORPHA:1052 |
Cataract 41 |
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Nuclear cataract |
OMIM:116400 |
Cataract, Age-Related Nuclear |
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Nuclear cataract |
OMIM:601371 |
Ciliary Dyskinesia, Primary, 19 |
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Recurrent sinusitis, Situs inversus totalis |
OMIM:614935 |
Williams-Beuren Syndrome (WBS) |
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Malar flattening, Microdontia, Aortic valve stenosis, Everted lower lip vermilion |
DECIPHER:3 |
Thanatophoric Dysplasia, Glasgow Variant |
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Cataract |
OMIM:273680 |
Femoral-Facial Syndrome |
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Renal agenesis, Missing ribs, Long philtrum, Absent vertebra, Micropenis, Pulmonic stenosis, Micr... |
OMIM:134780 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
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Hydrocephalus, Cavum septum pellucidum, Nephroblastoma, Ventricular septal defect, Smooth philtru... |
OMIM:602501 |
Structural Heart Defects And Renal Anomalies Syndrome |
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Tetralogy of Fallot, Renal cyst, Tricuspid atresia, Atrial septal defect, Partial anomalous pulmo... |
OMIM:617478 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
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Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane |
ORPHA:1067 |
Retinitis Pigmentosa 40 |
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Cataract |
OMIM:613801 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
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Cerebral atrophy, Renal tubular dysfunction, Patent ductus arteriosus, Atrial septal defect, Doub... |
OMIM:614886 |
Trisomy 18 |
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Narrow mouth, Non-midline cleft lip, Atrial septal defect, Hydronephrosis, Anencephaly, Aplasia/H... |
ORPHA:3380 |
Cataract 16, Multiple Types |
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Developmental cataract, Posterior polar cataract |
OMIM:613763 |
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome |
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Cataract |
OMIM:212540 |
8Q12 Microduplication Syndrome |
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Narrow mouth, Long philtrum, Atrial septal defect, Everted lower lip vermilion, Ventricular septa... |
ORPHA:228399 |
Isolated Cleft Lip |
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Supernumerary maxillary incisor, Bilateral cleft lip, Non-midline cleft lip, Velopharyngeal insuf... |
ORPHA:199302 |
Holoprosencephaly |
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Proteinuria, Panhypopituitarism, Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Dandy-W... |
ORPHA:2162 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
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Missing ribs, Short ribs, Micrognathia, Polycystic kidney dysplasia, Micromelia, Hyperechogenic k... |
OMIM:617866 |
Holoprosencephaly 2 |
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Bifid uvula, Solitary median maxillary central incisor, Agenesis of corpus callosum, Cerebellar h... |
OMIM:157170 |
Dandy-Walker Malformation With Postaxial Polydactyly |
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Patent ductus arteriosus, Dandy-Walker malformation, Agenesis of cerebellar vermis, Microretrogna... |
OMIM:220220 |
Ventricular Septal Defect 3 |
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Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect, Patent ductus arteriosus |
OMIM:614432 |
Microphthalmia, Syndromic 12 |
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Retrognathia, Ventricular septal defect, Micrognathia, Hypoplastic left atrium |
OMIM:615524 |
Ciliary Dyskinesia, Primary, 15 |
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Situs inversus totalis, Chronic sinusitis |
OMIM:613808 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
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Micrognathia, Polycystic kidney dysplasia, Abnormal heart morphology, Aminoaciduria, Cleft palate |
OMIM:214110 |
Alagille Syndrome 2 |
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Tetralogy of Fallot, Renal tubular acidosis, Renal cyst, Hematuria, Proteinuria, Atrial septal de... |
OMIM:610205 |
Ciliary Dyskinesia, Primary, 5 |
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Recurrent sinusitis, Situs inversus totalis |
OMIM:608647 |
Smith-Lemli-Opitz Syndrome |
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Unilateral renal agenesis, Long philtrum, Hydronephrosis, Short thumb, Micrognathia, Micromelia, ... |
OMIM:270400 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
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Dilatation of the cerebral artery, Hepatic cysts, Polycystic kidney dysplasia |
OMIM:600666 |
Aniridia And Absent Patella |
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Cataract, Aniridia |
OMIM:106220 |
Leber Congenital Amaurosis 6 |
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Keratoconus, Cataract |
OMIM:613826 |
Isotretinoin-Like Syndrome |
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Abnormal aortic arch morphology, Patent ductus arteriosus, Conotruncal defect, Abnormal cardiac a... |
ORPHA:2306 |
49,Xxxxy Syndrome |
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Hypoplasia of the corpus callosum, Delayed eruption of teeth, Open bite, Renal hypoplasia/aplasia... |
ORPHA:96264 |
Primary Non-Essential Cutis Verticis Gyrata |
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Atrial septal defect, Microcephaly, Periventricular leukomalacia, Ventricular septal defect |
ORPHA:357225 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
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Accessory oral frenulum, High palate, Nephronophthisis, Bifid uvula, Renal cyst, Short femoral ne... |
OMIM:266920 |
Genitopalatocardiac Syndrome |
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Non-midline cleft lip, Hypospadias, Micrognathia, Multicystic kidney dysplasia, Microcephaly, Hyd... |
ORPHA:2075 |
Pellagra-Like Syndrome |
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Cataract |
OMIM:260650 |
Rhizomelic Syndrome |
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Rhizomelia, Microcephaly, Pulmonic stenosis, Micrognathia |
OMIM:268250 |
Mcdonough Syndrome |
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Short philtrum, Atrial septal defect, Pulmonic stenosis, Micrognathia, Furrowed tongue, Ventricul... |
OMIM:248950 |
Anterior Segment Dysgenesis 1 |
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Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacification of the corneal str... |
OMIM:107250 |
Cataract 30, Multiple Types |
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Pulverulent cataract, Posterior polar cataract, Diffuse nuclear cataract |
OMIM:116300 |
Hypoplastic Left Heart Syndrome 1 |
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Hypoplastic left heart, Aortic valve stenosis, Coarctation of aorta |
OMIM:241550 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Disproportionate shortening of the tibia, Atrial septal defect, Short ribs, Micropenis, Hamartoma... |
OMIM:263520 |
Solitary Median Maxillary Central Incisor |
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Solitary median maxillary central incisor, Cleft upper lip, Anterior hypopituitarism, Microcephal... |
OMIM:147250 |
Jacobsen Syndrome |
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Missing ribs, Atrial septal defect, U-Shaped upper lip vermilion, Micrognathia, Microcephaly, Ven... |
OMIM:147791 |
Intellectual Developmental Disorder, X-Linked 106 |
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Open mouth, Microcephaly, Bicuspid aortic valve, Thin upper lip vermilion, Hypospadias, Thick ver... |
OMIM:300997 |
Autosomal Recessive Spastic Paraplegia Type 69 |
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Cataract |
ORPHA:401830 |
Branchiootorenal Syndrome 1 |
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Renal agenesis, High palate, Bifid uvula, Renal malrotation, Abnormal cerebral morphology, Microd... |
OMIM:113650 |
Proboscis Lateralis |
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Unilateral renal agenesis, High palate, Abnormal corpus callosum morphology, Long philtrum, Abnor... |
ORPHA:141099 |
Bardet-Biedl Syndrome 10 |
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Renal cyst, Abnormality of the kidney, Renal insufficiency |
OMIM:615987 |
Smith-Lemli-Opitz Syndrome |
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Long philtrum, Aplasia/Hypoplasia of the corpus callosum, Hydronephrosis, Micrognathia, Multicyst... |
ORPHA:818 |
Floating-Harbor Syndrome |
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Epididymal cyst, Mesocardia, 11 pairs of ribs, Hydronephrosis, Microdontia, Short thumb, Polycyst... |
ORPHA:2044 |
Say Syndrome |
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Cystic renal dysplasia, Micrognathia, Microcephaly, Short distal phalanx of finger, Proximal rena... |
OMIM:181180 |
Hamel Cerebro-Palato-Cardiac Syndrome |
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Narrow mouth, Atrial septal defect, Micrognathia, Microcephaly, Malar flattening, Cleft palate |
ORPHA:93946 |
Ciliary Dyskinesia, Primary, 1 |
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Communicating hydrocephalus, Absent frontal sinuses, Situs inversus totalis, Chronic sinusitis |
OMIM:244400 |
Hypotonia, Infantile, With Psychomotor Retardation |
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Open mouth, Dilation of lateral ventricles, Ventricular septal defect, Hypoplasia of the corpus c... |
OMIM:616816 |
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome |
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Renal agenesis, High palate, Cerebral atrophy, Cystic renal dysplasia, Increased urine alpha-keto... |
OMIM:220500 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
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Abnormal palate morphology, Abnormality of the dentition, Carious teeth, Multicystic kidney dyspl... |
ORPHA:3270 |
Distal Monosomy 12Q |
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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 |
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Acromesomelia, Hypoplasia of the corpus callosum, Patent foramen ovale, Patent ductus arteriosus,... |
ORPHA:500159 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
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Bifid uvula, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Macroglossia, Microcephaly, D... |
OMIM:612938 |
Williams Syndrome |
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Long philtrum, Open bite, Proteinuria, Everted lower lip vermilion, Microdontia, Micrognathia, Ma... |
ORPHA:904 |
Charge Syndrome |
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Dysplastic tricuspid valve, Hydronephrosis, Short thumb, Double outlet right ventricle, Micrognat... |
OMIM:214800 |
Isolated Aniridia |
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Cataract, Aniridia, Peters anomaly |
ORPHA:250923 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
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Cataract |
ORPHA:2278 |
Chromosome 15Q26-Qter Deletion Syndrome |
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Micropenis, Micrognathia, Microcephaly, Short middle phalanx of finger, Hypospadias, Abnormal car... |
OMIM:612626 |
Kahrizi Syndrome |
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Cataract, Iris coloboma |
OMIM:612713 |
Leber Congenital Amaurosis 8 |
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Keratoconus, Cataract |
OMIM:613835 |
Kleefstra Syndrome |
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Hydronephrosis, Everted lower lip vermilion, Tented upper lip vermilion, Exaggerated cupid's bow,... |
ORPHA:261494 |
Kyrle Disease |
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Posterior subcapsular cataract |
OMIM:149500 |
Cataract 43 |
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Posterior subcapsular cataract |
OMIM:616279 |
Stickler Syndrome Type 2 |
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Cataract, Corneal opacity |
ORPHA:90654 |
Aase-Smith Syndrome I |
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Open mouth, Dandy-Walker malformation, Ventricular septal defect, Hydrocephalus, Cleft palate |
OMIM:147800 |
22Q11.2 Deletion Syndrome |
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Long philtrum, Tricuspid atresia, Abnormal aortic valve morphology, Micrognathia, Polycystic kidn... |
ORPHA:567 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
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Ventricular septal defect |
OMIM:616277 |
Chromosome 14Q11-Q22 Deletion Syndrome |
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Narrow mouth, High palate, Long philtrum, Patent foramen ovale, Patent ductus arteriosus, Microgn... |
OMIM:613457 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
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Hydronephrosis, Micrognathia, Microcephaly, Thin upper lip vermilion, Cleft palate, Cerebellar ve... |
OMIM:618454 |
Craniofacial Dyssynostosis With Short Stature |
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Hypoplasia of the corpus callosum, Horseshoe kidney, Agenesis of corpus callosum, Patent ductus a... |
OMIM:218350 |
Pentalogy Of Cantrell |
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Renal agenesis, Tetralogy of Fallot, Encephalocele, Abnormal pericardium morphology, Non-midline ... |
ORPHA:1335 |
Li-Campeau Syndrome |
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Patellar hypoplasia, Long philtrum, Patent foramen ovale, Atrial septal defect, Micropenis, Paten... |
OMIM:619189 |
Bardet-Biedl Syndrome 16 |
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Renal agenesis, Renal cyst, Abnormality of the kidney, Renal dysplasia, Renal insufficiency |
OMIM:615993 |
Holoprosencephaly 3 |
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Central diabetes insipidus, Solitary median maxillary central incisor, Bifid uvula, Hydronephrosi... |
OMIM:142945 |
Congenitally Uncorrected Transposition Of The Great Arteries |
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Abnormal pulmonary valve morphology, Abnormal aortic arch morphology, Patent ductus arteriosus, A... |
ORPHA:860 |
Short Stature, Rhizomelic, With Microcephaly, Micrognathia, And Developmental Delay |
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High palate, Rhizomelia, Micropenis, Hypospadias, Micrognathia, Microcephaly, Ventricular septal ... |
OMIM:617164 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
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Agenesis of corpus callosum, Hydrocephalus, Absent septum pellucidum, Holoprosencephaly, Aqueduct... |
ORPHA:2182 |
RCAD (renal cysts and diabetes) |
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Multiple renal cysts |
DECIPHER:47 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
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Enlarged kidney, Absent radius, Isomerism, Atrioventricular canal defect, Hydronephrosis, Short h... |
OMIM:314390 |
Holoprosencephaly 9 |
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Abnormal cortical gyration, Hypoplasia of the premaxilla, Panhypopituitarism, Optic nerve hypopla... |
OMIM:610829 |
Microcephaly-Capillary Malformation Syndrome |
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Cerebral atrophy, Hypoplasia of the corpus callosum, Patent foramen ovale, Progressive microcepha... |
OMIM:614261 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
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Hypoplasia of the corpus callosum, Atrial septal defect, Vascular ring, Pachygyria, Ventricular s... |
OMIM:603387 |
Myopathy, Centronuclear, 5 |
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Narrow mouth, Dilated cardiomyopathy, High palate, Micrognathia, Retrognathia |
OMIM:615959 |
15Q14 Microdeletion Syndrome |
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Biparietal narrowing, Short philtrum, Long philtrum, Atrial septal defect, Microcephaly, Ventricu... |
ORPHA:261190 |
Grange Syndrome |
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Short palm, Arterial stenosis, Ventricular septal defect, Patent ductus arteriosus |
ORPHA:79094 |
Cochleosaccular Degeneration-Cataract Syndrome |
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Cataract |
ORPHA:3233 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
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Dysplastic corpus callosum, Horseshoe kidney, Unilateral cleft palate, Unilateral cleft lip, Thic... |
OMIM:619103 |
3C Syndrome |
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Missing ribs, Abnormal mitral valve morphology, Hydronephrosis, High, narrow palate, Micrognathia... |
ORPHA:7 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
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Lacticaciduria, 3-Methylglutaric aciduria, Polycystic kidney dysplasia, Abnormal heart morphology... |
ORPHA:26791 |
Distal Monosomy 15Q |
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Micrognathia, Multicystic kidney dysplasia, Hypoplastic left heart, Microcephaly, Mitral stenosis... |
ORPHA:1596 |
Joubert Syndrome 39 |
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Occipital encephalocele, Hypoplastic left heart, Cerebellar vermis hypoplasia, Polycystic kidney ... |
OMIM:619562 |
Muscle-Eye-Brain Disease |
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Aplasia/Hypoplasia of the cerebellum, Holoprosencephaly, Meningocele, Hydrocephalus |
ORPHA:588 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
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Hypoplasia of penis, Micromelia, Hypoplastic left heart, Microcephaly, Ventricular septal defect,... |
ORPHA:2772 |
Autosomal Dominant Coarctation Of Aorta |
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Aortic arch aneurysm, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic left... |
ORPHA:1455 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
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Broad secondary alveolar ridge, High palate, Ventricular septal defect, Secondary microcephaly |
ORPHA:3369 |
Cataract 31, Multiple Types |
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Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
Hyperparathyroidism 2 With Jaw Tumors |
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Nephrolithiasis, Renal cortical adenoma, Polycystic kidney dysplasia, Papillary renal cell carcin... |
OMIM:145001 |