Lipedema |
|
Edema |
OMIM:614103 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Cataract |
ORPHA:79281 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Angioedema, Hereditary, 6 |
|
Facial edema, Angioedema, Edema of the dorsum of hands |
OMIM:619363 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Neural tube defect, Anophthalmia |
OMIM:600776 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Holoprosencephaly, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Lambert Syndrome |
|
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect |
ORPHA:1296 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Short neck, Pericardial effusion, Microphth... |
OMIM:613885 |
Anencephaly 2 |
|
Anophthalmia, Anencephaly |
OMIM:619452 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract, Optic atrophy |
ORPHA:2253 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Cataract, Choroidal neovascularization, Abnormal chorioret... |
ORPHA:179 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Rod-cone dystrophy, Cataract |
OMIM:300719 |
Bardet-Biedl Syndrome 18 |
|
Renal insufficiency, Cataract, Retinal dystrophy, Stage 5 chronic kidney disease, Rod-cone dystrophy |
OMIM:615995 |
Wagner Vitreoretinopathy |
|
Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti... |
OMIM:143200 |
Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, Cataract, 3-Methylglutaconic aciduria |
OMIM:619813 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Orbital encephalocele, Anophthalmia |
OMIM:164180 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic disc pallor, Cataract, Optic atrophy |
OMIM:165300 |
Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
Coats Disease |
|
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... |
ORPHA:190 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma... |
OMIM:614500 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Cataract, Ventricular septal defect, Elevated circulating aspartate aminotransferas... |
OMIM:614876 |
Galactosemia Ii |
|
Cataract, Galactosuria, Prolonged neonatal jaundice |
OMIM:230200 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Retinitis Pigmentosa 40 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo... |
OMIM:613801 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... |
OMIM:614292 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... |
OMIM:180104 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... |
OMIM:618220 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... |
OMIM:309300 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Congenital hepatic fibrosis, Ch... |
ORPHA:3156 |
Hydrolethalus |
|
Anophthalmia, Polyhydramnios, Hydrocephalus, Anencephaly, Microphthalmia |
ORPHA:2189 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c... |
OMIM:613731 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia, Ventricular septal defect, Hypoplastic left atrium |
OMIM:615524 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy |
ORPHA:90654 |
Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Anophthalmia Plus Syndrome |
|
Anophthalmia, Spina bifida |
ORPHA:1104 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Cataract, Optic atrophy, Concentric hypertrophic cardiomyopathy, Macular degeneration, Rod-cone d... |
OMIM:204200 |
Verheij Syndrome |
|
Branchial cyst, Ventricular septal defect, Optic nerve hypoplasia, Short stature, Short neck, Gro... |
OMIM:615583 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Hepatomegaly, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, H... |
OMIM:204000 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Optic disc pallor, Cataract, Ventricular septal defect, Ectopic kidney, Cystic rena... |
OMIM:613730 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Growth delay, H... |
ORPHA:77298 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... |
OMIM:193230 |
Morm Syndrome |
|
Micropenis, Cataract, Retinal dystrophy, Retinal atrophy |
ORPHA:75858 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... |
OMIM:611040 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Retinal dystrophy, Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Ch... |
ORPHA:231736 |
Trisomy 13 |
|
Anophthalmia, Ventricular septal defect, Patent ductus arteriosus, Hydrops fetalis, Aplasia/Hypop... |
ORPHA:3378 |
Nephronophthisis 14 |
|
Situs inversus totalis, Polycystic kidney dysplasia, Retinal degeneration, Nephronophthisis |
OMIM:614844 |
Trisomy 1Q |
|
Anophthalmia, Ventricular septal defect, Polyhydramnios, Increased nuchal translucency, Patent du... |
ORPHA:261344 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Hematuria, Chorioretinal coloboma, ... |
ORPHA:1473 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o... |
OMIM:600059 |
Cataract 21, Multiple Types |
|
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... |
OMIM:610202 |
Attrv30M Amyloidosis |
|
Vitreous floaters, Cardiomegaly, Cardiomyopathy, Nephropathy, Abnormal renal physiology |
ORPHA:85447 |
Refsum Disease, Classic |
|
Cataract, Cardiomegaly, Rod-cone dystrophy, Cardiomyopathy, Retinal degeneration, Abnormal renal ... |
OMIM:266500 |
Galactosemia Iv |
|
Cataract, Prolonged neonatal jaundice |
OMIM:618881 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal pigment epithelial ... |
OMIM:616108 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Cataract, Patchy atrophy of the retinal pigment epithelium, Chorioretinal atr... |
OMIM:616468 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Cataract, Rhegmatogenous retinal detachment, Peripheral ... |
ORPHA:891 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... |
OMIM:204100 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly, J... |
ORPHA:858 |
X-Linked Mandibulofacial Dysostosis |
|
Short stature, Branchial anomaly, Pulmonic stenosis, Webbed neck, Abnormal mitral valve morphology |
ORPHA:1131 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Corneal opacity, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Persistent ... |
ORPHA:1067 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Optic disc pallor, Chorioretin... |
OMIM:251270 |
Maternally-Inherited Diabetes And Deafness |
|
Renal insufficiency, Cataract, Proteinuria, Abnormal chorioretinal morphology, Macular dystrophy,... |
ORPHA:225 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Cataract, Splenomegaly, Jaundice, Aminoaciduria |
ORPHA:79238 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Short stature |
OMIM:609166 |
Mulibrey Nanism |
|
Hepatomegaly, Corneal dystrophy, Cardiomegaly, Myocardial fibrosis, Pigmentary retinopathy, Astig... |
OMIM:253250 |
Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... |
OMIM:613835 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Spina bifida, Polyhydramnios, Aqueductal stenosis, Hydrocephalus, Microphthalmia, I... |
ORPHA:3412 |
Neuraminidase Deficiency |
|
Hepatomegaly, Cataract, Urinary excretion of sialylated oligosaccharides, Proteinuria, Cardiomega... |
OMIM:256550 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema |
OMIM:178400 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert... |
OMIM:620135 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
3-Methylglutaconic Aciduria Type 4 |
|
Cataract, Cardiomyopathy, 3-Methylglutaconic aciduria, Decreased liver function, Iris hypopigment... |
ORPHA:67048 |
Familial Atrial Myxoma |
|
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Cholestasis, Bacterial endocarditis |
ORPHA:615 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema |
OMIM:618773 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Micropenis, Cataract, Retinal dystrophy |
OMIM:610156 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ... |
OMIM:133780 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... |
OMIM:120200 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Hypospadias, Cataract, Tetralogy of Fallot |
ORPHA:1381 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Pterygium, Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, ... |
OMIM:618052 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... |
ORPHA:91495 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia, Short stature, Holoprosencephaly |
OMIM:147250 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria, Cataract, Iris coloboma, Chorioretinal coloboma |
OMIM:120433 |
Exudative Vitreoretinopathy 4 |
|
Peripheral retinal avascularization, Posterior vitreous detachment, Vitreous hemorrhage, Exudativ... |
OMIM:601813 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Hypertrophic cardiomyopathy, Cataract, Corneal dystrophy |
ORPHA:1369 |
Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
Retinitis Pigmentosa 2 |
|
Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa... |
OMIM:312600 |
Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:212140 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... |
ORPHA:453499 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Macrovesicular... |
OMIM:600649 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
Galactose Mutarotase Deficiency |
|
Hepatomegaly, Cataract, Decreased liver function, Cholestasis |
ORPHA:570422 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Ventricular septal defect, Corneal o... |
ORPHA:290 |
Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Severe postnatal growth retardation |
ORPHA:435938 |
Stickler Syndrome, Type V |
|
Retinal detachment, Cataract, Vitreoretinopathy |
OMIM:614284 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... |
OMIM:212550 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Ventricular septal defect, Short stature, Severe short stature, Patent ductus arter... |
OMIM:601186 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cataract, Oligosacchariduria, Cardiomegaly |
ORPHA:3137 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat... |
OMIM:255120 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Short stature |
ORPHA:50815 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma |
ORPHA:35737 |
Holoprosencephaly |
|
Encephalocele, Anophthalmia, Ventricular septal defect, Abnormal pulmonary valve morphology, Shor... |
ORPHA:2162 |
Stickler Syndrome Type 1 |
|
Retinal detachment, Cataract, Abnormal vitreous humor morphology, Mitral valve prolapse |
ORPHA:90653 |
Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Nephrotic syndrome, Cardiomegaly |
OMIM:269920 |
Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Cataract, Cardiomyopathy, Cirrhosis, Hepatic steatosis |
OMIM:606069 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph... |
OMIM:221900 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
Meckel Syndrome |
|
Encephalocele, Anophthalmia, Situs inversus totalis, Hydrocephalus, Anencephaly, Lobar holoprosen... |
ORPHA:564 |
White Sponge Nevus 2 |
|
Edema |
OMIM:615785 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Optic disc pallor, Hypertrophic cardiomyopathy, Cataract |
ORPHA:3173 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Hypertrophic cardiomyopathy, Cataract, Abnormal heart valve morphology |
ORPHA:1345 |
Intermediate Uveitis |
|
Cataract, Macular scar, Band keratopathy, Vitreous haze, Epiretinal membrane, Vitreous floaters, ... |
ORPHA:279914 |
Fibular Hemimelia |
|
Anophthalmia, Spina bifida, Abnormal heart morphology |
ORPHA:93323 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Rod-cone dystrophy, Cataract |
OMIM:619082 |
Joubert Syndrome 9 |
|
Cataract, Retinal dystrophy, Stage 5 chronic kidney disease, Astigmatism, Hepatic fibrosis |
OMIM:612285 |
Gyrate Atrophy Of Choroid And Retina |
|
Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Chorioretinal atrophy, Ami... |
ORPHA:414 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Peters anomaly, Atrial septal defect, Patent foramen ovale |
OMIM:618652 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hy... |
ORPHA:2334 |
Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... |
OMIM:310600 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Optic atrophy, Cardiomegaly |
OMIM:614702 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Exercise-induced myoglobinuria, Hepatocellular... |
OMIM:201475 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Ventricular septal defect, Short stature, Situs inversus totalis, Hydrocephalus, M... |
ORPHA:1908 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h... |
OMIM:252920 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Cataract, Dilated cardiomyopathy, Elevated circulating alanine aminotransferase con... |
OMIM:618805 |
Cockayne Syndrome Type 2 |
|
Intrauterine growth retardation, Anophthalmia, Delayed eruption of primary teeth |
ORPHA:90322 |
Sickle Cell Disease |
|
Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Hema... |
OMIM:603903 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
Weill-Marchesani Syndrome |
|
Cataract, Ventricular septal defect, Ectopia lentis, Pulmonic stenosis, Aortic valve stenosis |
ORPHA:3449 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy, Cirrhosi... |
OMIM:235200 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Elevated hepatic transaminase, Left atrial enlargement, Elevated circula... |
OMIM:300280 |
Bardet-Biedl Syndrome 9 |
|
Renal insufficiency, Bone spicule pigmentation of the retina, Cataract, Astigmatism, Rod-cone dys... |
OMIM:615986 |
Hsd10 Disease, Infantile Type |
|
Cardiomegaly, Rod-cone dystrophy, Optic atrophy, Hypertrophic cardiomyopathy, Abnormal concentrat... |
ORPHA:391428 |
Isolated Atp Synthase Deficiency |
|
Hepatomegaly, Cataract, Dilated cardiomyopathy, Optic atrophy, Renal hypoplasia, 3-Methylglutacon... |
ORPHA:254913 |
Walker-Warburg Syndrome |
|
Microphthalmia, Hydrocephalus, Anophthalmia |
ORPHA:899 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Cardiomyopathy, Nephrotic syndrome, As... |
OMIM:617713 |
Cataract 47 |
|
Microcornea, Cataract, Glycosuria |
OMIM:612018 |
Infantile Refsum Disease |
|
Hepatomegaly, Cataract, Optic atrophy, Cardiomyopathy, Rod-cone dystrophy |
ORPHA:772 |
Papillorenal Syndrome |
|
Renal cyst, Macular degeneration, Vesicoureteral reflux, Multicystic kidney dysplasia, Optic disc... |
OMIM:120330 |
Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... |
ORPHA:83461 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic... |
ORPHA:42 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Aniridia, Umbilical hernia, Anophthalmia, Tricuspid valve prolapse |
ORPHA:1101 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the cili... |
OMIM:609049 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Anophthalmia, Optic nerve hypoplasia, Postnatal growth retardation, Hydrocephalus |
OMIM:605627 |
Microphthalmia With Limb Anomalies |
|
Growth delay, Microphthalmia, Anophthalmia, Postnatal growth retardation |
OMIM:206920 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
Oligomeganephronia |
|
Branchial cyst, Secundum atrial septal defect, Dehydration |
ORPHA:2260 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Brushfield spots, Jaundice, Optic nerve ... |
OMIM:214110 |
Oculoauricular Syndrome |
|
Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c... |
OMIM:612109 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti... |
ORPHA:263479 |
Branchiootic Syndrome |
|
Branchial fistula |
ORPHA:52429 |
Fucosidosis |
|
Hepatomegaly, Corneal opacity, Cardiomegaly, Abnormality of the gallbladder, Mucopolysacchariduria |
ORPHA:349 |
Galactosemia I |
|
Hepatomegaly, Cataract, Elevated circulating aspartate aminotransferase concentration, Elevated c... |
OMIM:230400 |
Isolated Posterior Meningocele |
|
Limitation of neck motion, Meningocele, Lipomyelomeningocele, Hydrocephalus, Neural tube defect, ... |
ORPHA:268810 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Optic nerve hypoplasia, Ventricular septal defect, Increased nuchal transl... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bicuspid aortic valve, Optic nerve hypoplasia, Ventricular septal defect, Increased nuchal transl... |
ORPHA:352665 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Hepatomegaly, Ureteral duplication, Cataract, Renal insufficiency,... |
OMIM:608836 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Rod-cone dystrophy, Cataract, Retinal coloboma |
OMIM:601794 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula |
OMIM:113650 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Bor Syndrome |
|
Branchial cyst |
ORPHA:107 |
Cardiomyopathy, Dilated, 1Ii |
|
Dilated cardiomyopathy, Cataract |
OMIM:615184 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,... |
OMIM:231005 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Rod-cone dystrophy, Cataract, Retinal coloboma |
ORPHA:363741 |
Juvenile Sialidosis Type 2 |
|
Hepatomegaly, Cataract, Corneal opacity, Optic atrophy, Hepatosplenomegaly, Abnormal heart morpho... |
ORPHA:93399 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Optic atrophy, Cardiomyopathy, 3-Methylglutaconic aciduria, Increased hepatic glyco... |
OMIM:619259 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Branchial fistula, Ventricular septal defect, Short stature, Growth delay, Atrial septal defect, ... |
ORPHA:261330 |
Transketolase Deficiency |
|
Hepatomegaly, Increased level of ribose in urine, Cataract, Ventricular septal defect, Renal cyst... |
ORPHA:488618 |
Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Hepatomegaly, Cataract, Corneal opacity, Optic atrophy, Developmental ca... |
ORPHA:93400 |
Cerebrooculonasal Syndrome |
|
Anophthalmia |
ORPHA:66625 |
Wolfram Syndrome 1 |
|
Neurogenic bladder, Cataract, Hydroureter, Optic atrophy, Cardiomyopathy, Pigmentary retinopathy,... |
OMIM:222300 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa... |
OMIM:614921 |
Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia, Intrauterine growth retardation |
ORPHA:2470 |
Charge Syndrome |
|
Delayed eruption of teeth, Anophthalmia, Short stature, Polyhydramnios, Aqueductal stenosis, Post... |
ORPHA:138 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
Isolated Aniridia |
|
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly |
ORPHA:250923 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo... |
ORPHA:67043 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Ventricular septal defect, Palpebral edema, Patent ductus arteriosus, Hydrocep... |
ORPHA:261337 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... |
OMIM:306955 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Anophthalmia |
OMIM:615636 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Short stature, Optic nerve hypoplasia |
OMIM:610125 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Hepatic ... |
ORPHA:228308 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Short statu... |
OMIM:206900 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Infancy onset short-trunk short stature, Ventricular septal defect, Optic nerve h... |
ORPHA:508488 |
Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Conjunctival icterus, Jaundice, Cirrhosis, L... |
ORPHA:57777 |
Knobloch Syndrome |
|
Retinal detachment, Cataract, Dextrocardia, Ectopia lentis, Abnormal vitreous humor morphology, M... |
ORPHA:1571 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia |
ORPHA:139471 |
Alagille Syndrome 1 |
|
Multiple small medullary renal cysts, Microcornea, Vesicoureteral reflux, Atrial septal defect, A... |
OMIM:118450 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Stage 5 chro... |
OMIM:268315 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
Microphthalmia, Syndromic 2 |
|
Delayed eruption of teeth, Atrial septal defect, Anophthalmia, Ventricular septal defect, Dextroc... |
OMIM:300166 |
Enhanced S-Cone Syndrome |
|
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis |
OMIM:268100 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Alg3-Cdg |
|
Neural tube defect, Cardiomyopathy |
ORPHA:79321 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Nephrocalcinosis, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Attrv122I Amyloidosis |
|
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... |
ORPHA:85451 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Glomerulonephritis, Cardiomegaly |
ORPHA:99931 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Severe short stature, Edema, Lymphedema, Chylothorax, Atrial septal defect, Microph... |
ORPHA:2526 |
Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Natal tooth, Short stature, Polyhydramnios, Atrial septal defect, Microphthalmia,... |
OMIM:620186 |
Fraser Syndrome 1 |
|
Encephalocele, Anophthalmia, Myelomeningocele, Bilateral microphthalmos, Hydrocephalus, Abnormal ... |
OMIM:219000 |
Charge Syndrome |
|
Anophthalmia, Overriding aorta, Ventricular septal defect, Polyhydramnios, Secundum atrial septal... |
OMIM:214800 |
Cockayne Syndrome Type 1 |
|
Postnatal growth retardation, Anophthalmia, Delayed eruption of primary teeth |
ORPHA:90321 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Splenomegaly, Cardiomyopathy... |
ORPHA:465508 |
Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Patent ductus arteriosus, Microphthalmia |
ORPHA:861 |
Idiopathic Panuveitis |
|
Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Vi... |
ORPHA:280921 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypospadias, Cardiomegaly, Micropenis, Hypertrophic cardiomyopathy, Hy... |
OMIM:616897 |
Holoprosencephaly 9 |
|
Anophthalmia, Short stature, Optic nerve hypoplasia, Hydrocephalus, Holoprosencephaly, Microphtha... |
OMIM:610829 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Branchial anomaly |
ORPHA:466950 |
Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
Sandhoff Disease |
|
Hepatomegaly, Urinary incontinence, Cardiomegaly, Hepatosplenomegaly, Cherry red spot of the macula |
OMIM:268800 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Severe short stature, Hydrocephalus, Dilated cardiomyopathy, Mitral valve prolapse,... |
ORPHA:2556 |
Timothy Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
Microgastria-Limb Reduction Defect Syndrome |
|
Congenital muscular torticollis, Anophthalmia, Growth delay, Atrial septal defect, Microphthalmia... |
ORPHA:2538 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Chromosome Xp11.3 Deletion Syndrome |
|
Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop... |
OMIM:300578 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... |
ORPHA:324410 |
Focal Dermal Hypoplasia |
|
Delayed eruption of teeth, Anophthalmia, Short stature, Myelomeningocele, Hydrocephalus, Aniridia... |
OMIM:305600 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cataract, Corneal opacity, Cardiomegaly, Heparan sulfate excretion in urine, Spleno... |
ORPHA:581 |
Pseudo-Torch Syndrome 3 |
|
Acute kidney injury, Proteinuria, Cardiomegaly |
OMIM:618886 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cataract, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricula... |
OMIM:261740 |
Proboscis Lateralis |
|
Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Patent ductus arteriosus, Holopr... |
ORPHA:141099 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... |
OMIM:614643 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Corneal opacity, Ventricular septal defect, Cardiomegaly, Optic atrophy, Renal cyst... |
ORPHA:137675 |
Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor |
OMIM:619649 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Mi... |
OMIM:602782 |
Fraser Syndrome |
|
Encephalocele, Anophthalmia, Myelomeningocele, Microphthalmia, Umbilical hernia |
ORPHA:2052 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly, R... |
ORPHA:14 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Cataract, Proteinuria, Corneal erosion, Stage 5 chronic kidney disease, Hema... |
OMIM:203780 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Amyloid deposition in the vitreous humor, Urinary incontinence, Cardiomegaly |
OMIM:105210 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria |
ORPHA:2714 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Cardiomegaly, Elevated circulating alanine aminotransferase concentration, Oligosac... |
ORPHA:308552 |
Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Edema |
OMIM:612097 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
Stromme Syndrome |
|
Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Bilateral renal hypoplasia, Mic... |
OMIM:243605 |
Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Optic atrophy, Hepatosplenomegaly, Atrial septal defect, Left ventric... |
ORPHA:79330 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia, Rhizomelia |
OMIM:615877 |
Cockayne Syndrome Type 3 |
|
Microcornea, Lentiglobus, Retinal degeneration, Hepatomegaly, Retinal atrophy, Renal hypoplasia, ... |
ORPHA:90324 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Iniencephaly |
|
Encephalocele, Rhizomelia, Spina bifida, Polyhydramnios, Myelomeningocele, Hydrocephalus, Anencep... |
ORPHA:63259 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Cataract, Sclerocornea, Hypospadias, Micropenis, Pig... |
OMIM:309801 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Anophthalmia, Ventricular septal defect, Patent ductus arteriosus, Hydro... |
OMIM:164210 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Short neck, Postnatal growth retardation, Low posterior hairline, Branchial anomaly... |
OMIM:113620 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Failure of eruption of permanent teeth, Anophthalmia |
ORPHA:2250 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Glycopeptiduria, Tortuosity of conjunctival vessels, Ol... |
OMIM:230000 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Hydromyelia |
OMIM:600145 |
Sympathetic Ophthalmia |
|
Papilledema, Retinal detachment, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul... |
ORPHA:79098 |
Atelis Syndrome 2 |
|
Remnants of the hyaloid vascular system, Developmental cataract, Supravalvar pulmonary stenosis, ... |
OMIM:620185 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Vesicoureteral reflux, Renal cortical cysts, ... |
OMIM:130650 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Anophthalmia, Short stature |
ORPHA:264200 |
Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly |
OMIM:208000 |
Bohring-Opitz Syndrome |
|
Retinal atrophy, Cardiomegaly, Optic atrophy, Abnormal cardiac septum morphology, Urinary retenti... |
ORPHA:97297 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Hydrocephalus, Short stature, True anophthalmia |
ORPHA:1106 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Abnormal heart morphology, Abnorma... |
ORPHA:42775 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Hepatic failure |
OMIM:608013 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Glandular hypospadias, Cardiomegaly |
OMIM:620306 |
Glycogen Storage Disease Ii |
|
Splenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly |
OMIM:232300 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Pollakisuria, Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
Witteveen-Kolk Syndrome |
|
Branchial fistula, Short stature, Polyhydramnios, Growth delay, Microphthalmia, Intrauterine grow... |
OMIM:613406 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Developmental glaucoma, Mitral valve prolapse, Atrial septal... |
OMIM:245600 |
Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Norrie Disease |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... |
ORPHA:649 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Aminoaciduria, Elevated hepatic iron concentration, Atrial sep... |
OMIM:619991 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly |
OMIM:617022 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Abnormality of the hepatic vasculature... |
ORPHA:1677 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Opacification of the corneal str... |
OMIM:252500 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system, Retinal hamartoma, Epiretinal membrane, Posterior subcap... |
ORPHA:637 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly |
OMIM:618143 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Hepatosple... |
OMIM:618278 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Ureteral duplication, Cardiomegaly, Splenomegaly, Choroideremia, Abnormal pancreas ... |
ORPHA:116 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Opacification of the corneal stroma, Cardiomegaly |
ORPHA:79280 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Hyperphosphaturia, Choroidal neovascularization, Cardiomegaly, Pericardi... |
ORPHA:51608 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Len... |
OMIM:619539 |
Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Nephrocalcinosis, Vesicoureteral reflux... |
ORPHA:904 |
Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Cataract, Band keratopathy, Bicarbonaturia, Bicarbonate-wasting renal tubular ... |
ORPHA:47159 |
Ogden Syndrome |
|
Global glomerulosclerosis, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal def... |
OMIM:300855 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Cardiomegaly, Developmental glaucoma, Hepatosplenomegaly, Micropen... |
ORPHA:51 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Cardiomegaly, Elevated circulating alanine aminotransferase concentration, Oligosac... |
ORPHA:365 |
Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Abnormality iris morphology, Cardiomegaly |
ORPHA:91387 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
Yunis-Varon Syndrome |
|
Cataract, Ventricular septal defect, Hypospadias, Sclerocornea, Cardiomegaly, Renovascular hypert... |
ORPHA:3472 |
Semilobar Holoprosencephaly |
|
Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect |
ORPHA:93924 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... |
OMIM:300967 |
Acromelic Frontonasal Dysostosis |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Microphthalmia, Syndromic 6 |
|
Microphthalmia, Anophthalmia |
OMIM:607932 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
Schinzel-Giedion Syndrome |
|
Delayed eruption of teeth, Short neck, Abnormal heart morphology, Neural tube defect, Umbilical h... |
ORPHA:798 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Punctate opacification o... |
OMIM:256040 |
Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma, Single ventricle |
OMIM:157170 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Bicuspid aortic valve, Growth delay, Webbed neck, Microphthalmia |
OMIM:309800 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... |
OMIM:182250 |