Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Edema |
OMIM:613267 |
Lipedema |
|
Edema |
OMIM:614103 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Cataract |
ORPHA:79281 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Angioedema, Hereditary, 6 |
|
Angioedema, Facial edema, Edema of the dorsum of hands |
OMIM:619363 |
Fryns Microphthalmia Syndrome |
|
Anophthalmia, Neural tube defect, Microphthalmia |
OMIM:600776 |
Cataract 20, Multiple Types |
|
Membranous cataract, Cataract |
OMIM:116100 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos, Holoprosencephaly |
OMIM:611638 |
Lambert Syndrome |
|
Ventricular septal defect, Intrauterine growth retardation, Branchial anomaly |
ORPHA:1296 |
Anencephaly 2 |
|
Anencephaly, Anophthalmia |
OMIM:619452 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Short neck, Anophthalmia, Microphthalmia |
OMIM:613885 |
Galactosemia Ii |
|
Cataract, Galactosuria, Prolonged neonatal jaundice |
OMIM:230200 |
Oculocerebrocutaneous Syndrome |
|
Orbital encephalocele, Anophthalmia, Microphthalmia |
OMIM:164180 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Ventricular septal d... |
OMIM:614876 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Lymphatic Malformation 11 |
|
Lymphedema, Pedal edema |
OMIM:619401 |
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts |
|
Cataract, Cardiomyopathy |
OMIM:225740 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
3-Methylglutaconic aciduria, Cataract, Splenomegaly |
OMIM:619813 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
Hydrolethalus |
|
Hydrocephalus, Anencephaly, Arrhinencephaly, Anophthalmia, Polyhydramnios, Microphthalmia |
ORPHA:2189 |
Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Anophthalmia, Hypoplastic left atrium, Microphthalmia |
OMIM:615524 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Nephrotic syndrome, Hepatomegaly, Left ventricular hypertrophy, Astigmatism, Elevated hepatic tra... |
OMIM:617713 |
Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Dextrocardia, Anophthalmia, Microphthalmia |
OMIM:221950 |
Galactosemia Iv |
|
Cataract, Prolonged neonatal jaundice |
OMIM:618881 |
Anophthalmia Plus Syndrome |
|
Spina bifida, Anophthalmia |
ORPHA:1104 |
Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hydrocephalus, Holoprosencephaly, Anophthalmia, Ventricular septal defect, Patent ductus arterios... |
ORPHA:77298 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane, Abnorma... |
ORPHA:1067 |
Trisomy 13 |
|
Atrial septal defect, Hydrops fetalis, Anophthalmia, Ventricular septal defect, Cystic hygroma, P... |
ORPHA:3378 |
Megalocornea |
|
Lens subluxation, Mosaic corneal dystrophy, Retinal detachment, Megalocornea, Astigmatism, Iridod... |
OMIM:309300 |
Trisomy 1Q |
|
Hydrocephalus, Hydrops fetalis, Anophthalmia, Ventricular septal defect, Polyhydramnios, Cystic h... |
ORPHA:261344 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Aminoaciduria, Splenomegaly, Cataract, Jaundice |
ORPHA:79238 |
X-Linked Mandibulofacial Dysostosis |
|
Abnormal mitral valve morphology, Short stature, Pulmonic stenosis, Branchial anomaly, Webbed neck |
ORPHA:1131 |
Iris Pigment Layer, Cleavage Of |
|
Peripheral retinal detachment, Cataract |
OMIM:147610 |
Cataract-Microcornea Syndrome |
|
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy |
ORPHA:1377 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Short stature |
OMIM:609166 |
Vacterl With Hydrocephalus |
|
Hydrocephalus, Aqueductal stenosis, Anophthalmia, Arrhinencephaly, Polyhydramnios, Microphthalmia... |
ORPHA:3412 |
Senior-Loken Syndrome |
|
Chronic kidney disease, Abnormality of retinal pigmentation, Nephronophthisis, Congenital hepatic... |
ORPHA:3156 |
3-Methylglutaconic Aciduria Type 4 |
|
Decreased liver function, Iris hypopigmentation, 3-Methylglutaconic aciduria, Cataract, Cardiomyo... |
ORPHA:67048 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Hypospadias, Aplasia/Hypoplasia of the lens, Tetralogy of Fallot, Cataract |
ORPHA:1381 |
Morm Syndrome |
|
Cataract, Retinal atrophy, Micropenis |
ORPHA:75858 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Cholestasis, Pulmonic valve myxoma, Jaundice, Cardiomegaly, Cardiac myxoma |
ORPHA:615 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Pulmonary edema, Edema |
OMIM:178400 |
Refsum Disease, Classic |
|
Retinal degeneration, Abnormal renal physiology, Cataract, Cardiomyopathy, Cardiomegaly |
OMIM:266500 |
Mulibrey Nanism |
|
Myocardial fibrosis, Hepatomegaly, Pigmentary retinopathy, Astigmatism, Iris coloboma, Corneal dy... |
OMIM:253250 |
Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Cardi... |
ORPHA:858 |
Attrv30M Amyloidosis |
|
Nephropathy, Cardiomyopathy, Cardiomegaly, Abnormal renal physiology |
ORPHA:85447 |
Anterior Segment Dysgenesis 8 |
|
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... |
OMIM:617319 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... |
OMIM:618052 |
Cataract 9, Multiple Types |
|
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract |
OMIM:604219 |
Neuraminidase Deficiency |
|
Hepatomegaly, Splenomegaly, Urinary excretion of sialylated oligosaccharides, Increased urinary O... |
OMIM:256550 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Macrovesicular hepatic steatosis, Elevated hepatic transaminase, Dilated cardiomyop... |
OMIM:600649 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Hypertrophic cardiomyopathy, Cataract, Corneal dystrophy |
ORPHA:1369 |
Chilblain Lupus 2 |
|
Edema |
OMIM:614415 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion |
OMIM:618773 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Endocardial fibroelastosis, Elevated hepatic transaminase, Decreased carnitine leve... |
OMIM:212140 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Cystic renal dysplasia, Ectopic kidney, Cataract |
OMIM:613730 |
Solitary Median Maxillary Central Incisor |
|
Short stature, Microphthalmia, Anophthalmia, Holoprosencephaly |
OMIM:147250 |
Leber Congenital Amaurosis 1 |
|
Hepatomegaly, Pigmentary retinopathy, Optic disc drusen, Keratoconus, Cataract, Hyperthreoninuria |
OMIM:204000 |
Galactose Mutarotase Deficiency |
|
Decreased liver function, Hepatomegaly, Cataract, Cholestasis |
ORPHA:570422 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Persistent pupillary membrane |
OMIM:225200 |
Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Peripapillary atrophy, Cataract, Macular degeneration |
OMIM:618195 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Corneal opacity, Retinal detachment, Posterior embryotoxon, Hematuria, Optic atrophy, Iris colobo... |
ORPHA:1473 |
Retinitis Pigmentosa 84 |
|
Macular coloboma, Cataract, Macular atrophy |
OMIM:618220 |
Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Atrioventricular canal defect, Ventricular septal de... |
ORPHA:453499 |
Coats Disease |
|
Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Retinal detachment, Cataract |
ORPHA:190 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cataract, Oligosacchariduria, Cardiomegaly |
ORPHA:3137 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Cirrhosis, Cataract, Hepatic steatosis, Cardiomyopathy |
OMIM:606069 |
Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Severe postnatal growth retardation |
ORPHA:435938 |
Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Short stature, Pulmonic stenosis, Single ventricle, Anophthalmia, Tetralogy... |
OMIM:601186 |
Carnitine Palmitoyltransferase I Deficiency |
|
Renal tubular acidosis, Hepatomegaly, Elevated hepatic transaminase, Hepatic steatosis, Cardiomegaly |
OMIM:255120 |
Holoprosencephaly |
|
Abnormal pulmonary valve morphology, Hydrocephalus, Microphthalmia, Holoprosencephaly, Short neck... |
ORPHA:2162 |
Infantile Sialic Acid Storage Disease |
|
Nephrotic syndrome, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:269920 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Short stature |
ORPHA:50815 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Cataract |
ORPHA:1345 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Lens subluxation, Cataract |
OMIM:614292 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Pancreatitis, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Dilated ... |
OMIM:618805 |
Congenital Rubella Syndrome |
|
Corneal opacity, Abnormality of retinal pigmentation, Atrial septal defect, Hepatomegaly, Splenom... |
ORPHA:290 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Cardiomegaly |
OMIM:618654 |
Cataract 47 |
|
Glycosuria, Cataract, Microcornea |
OMIM:612018 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Hepatosplenomegaly, Cataract |
OMIM:273680 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Posterior lenticonus, Microcornea, Iris coloboma |
ORPHA:231736 |
Lymphatic Malformation 7 |
|
Pulmonary edema, Facial edema, Nonimmune hydrops fetalis, Lymphedema, Edema, Pericardial effusion |
OMIM:617300 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Dicarboxylic aciduria, Exercise-induc... |
OMIM:201475 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Peters anomaly, Patent foramen ovale, Cardiomegaly |
OMIM:618652 |
Stickler Syndrome Type 2 |
|
Corneal opacity, Retinal detachment, Cataract |
ORPHA:90654 |
Meckel Syndrome |
|
Hydrocephalus, Anencephaly, Anophthalmia, Situs inversus totalis, Aplasia/Hypoplasia of the iris,... |
ORPHA:564 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... |
ORPHA:860 |
Fibular Hemimelia |
|
Spina bifida, Anophthalmia, Abnormal heart morphology |
ORPHA:93323 |
White Sponge Nevus 2 |
|
Edema |
OMIM:615785 |
Microphthalmia, Isolated 3 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase, C... |
OMIM:235200 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Splenomegaly, Heparan sulfate excretion in urine, Asymmetric septal hypertrophy, Ca... |
OMIM:252920 |
Microgastria-Limb Reduction Defects Association |
|
Type I truncus arteriosus, Secundum atrial septal defect, Arrhinencephaly, Anophthalmia |
OMIM:156810 |
Aniridia 2 |
|
Lens subluxation, Optic atrophy, Iris coloboma, Cataract, Aniridia |
OMIM:617141 |
Microphthalmia With Limb Anomalies |
|
Postnatal growth retardation, Anophthalmia, Growth delay, Microphthalmia |
OMIM:206920 |
Cockayne Syndrome Type 2 |
|
Intrauterine growth retardation, Anophthalmia, Delayed eruption of primary teeth |
ORPHA:90322 |
Microphthalmia, Isolated 8 |
|
Optic nerve hypoplasia, Anophthalmia, True anophthalmia, Microphthalmia |
OMIM:615113 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Pulmonic stenosis, Ventricular septal defect, Cataract, Ectopia lentis |
ORPHA:3449 |
Persistent Hyperplastic Primary Vitreous |
|
Remnants of the hyaloid vascular system, Corneal opacity, Shallow anterior chamber, Buphthalmos, ... |
ORPHA:91495 |
Aminopterin/Methotrexate Embryofetopathy |
|
Hydrocephalus, Holoprosencephaly, Short stature, Anencephaly, Tetralogy of Fallot, Ventricular se... |
ORPHA:1908 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Decreased liver function, Hepatomegaly, Dicarboxylic aciduria, Elevated hepatic transaminase, Ele... |
ORPHA:42 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Tricuspid valve prolapse, Aniridia, Anophthalmia, Umbilical hernia |
ORPHA:1101 |
Cardiomyopathy, Dilated, 1Ii |
|
Dilated cardiomyopathy, Cataract |
OMIM:615184 |
Walker-Warburg Syndrome |
|
Hydrocephalus, Anophthalmia, Microphthalmia |
ORPHA:899 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Opacification of the corneal stroma, Pigmentary r... |
OMIM:614866 |
Gaucher Disease, Type Iiic |
|
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... |
OMIM:231005 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... |
ORPHA:555874 |
Aniridia-Intellectual Disability Syndrome |
|
Optic nerve hypoplasia, Cataract, Ectopia lentis, Aniridia |
ORPHA:1068 |
Galactosemia I |
|
Increased level of galactitol in urine, Decreased liver function, Hepatomegaly, Aminoaciduria, Ci... |
OMIM:230400 |
Fucosidosis |
|
Corneal opacity, Hepatomegaly, Abnormality of the gallbladder, Mucopolysacchariduria, Cardiomegaly |
ORPHA:349 |
Microgastria-Limb Reduction Defect Syndrome |
|
Atrial septal defect, Anophthalmia, Arrhinencephaly, Congenital muscular torticollis, Microphthal... |
ORPHA:2538 |
Coloboma, Ocular, Autosomal Dominant |
|
Remnants of the hyaloid vascular system, Corneal opacity, Optic disc coloboma, Peters anomaly, Op... |
OMIM:120200 |
Transketolase Deficiency |
|
Atrial septal defect, Hepatomegaly, Increased level of ribose in urine, Ventricular septal defect... |
ORPHA:488618 |
Cerebrooculonasal Syndrome |
|
Hydrocephalus, Optic nerve hypoplasia, Anophthalmia, Postnatal growth retardation, Encephalocele |
OMIM:605627 |
Oligomeganephronia |
|
Branchial cyst, Dehydration, Secundum atrial septal defect |
ORPHA:2260 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Polyhydramnios, Lymphedema, Facial edema, Edema |
OMIM:618154 |
Joubert Syndrome 21 |
|
Occipital encephalocele, Anophthalmia |
OMIM:615636 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Lipid accumulation in hepatocytes, Long-chain dicarboxylic aciduria, Hepatomegaly, Hepatic calcif... |
OMIM:608836 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Timothy Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
Exfoliation Syndrome |
|
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... |
OMIM:177650 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Elevated circulating asparta... |
OMIM:614921 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Remnants of the hyaloid vascular system, Corneal opacity, Shallow anterior chamber, Buphthalmos, ... |
OMIM:221900 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Atrial septal defect, Optic nerve hypoplasia, Ventricular septal defect, C... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bicuspid aortic valve, Atrial septal defect, Optic nerve hypoplasia, Ventricular septal defect, C... |
ORPHA:352665 |
Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:248450 |
Vitreoretinal Degeneration, Snowflake Type |
|
Snowflake vitreoretinal degeneration, Retinal detachment, Cataract, Corneal guttata |
OMIM:193230 |
Branchiootic Syndrome |
|
Branchial fistula |
ORPHA:52429 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula |
OMIM:113650 |
Peroxisome Biogenesis Disorder 10B |
|
Cataract, Nephrocalcinosis, Neurogenic bladder, Prolonged neonatal jaundice |
OMIM:617370 |
Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... |
ORPHA:3092 |
Bor Syndrome |
|
Branchial cyst |
ORPHA:107 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Short stature, Branchial fistula, Ventricular septal defect, Growth delay, ... |
ORPHA:261330 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Right atrial enlargement, Hepatomegaly, Myofiber disarray, Muscular ventricular septal defect, Ve... |
OMIM:115197 |
Danon Disease |
|
Myocardial fibrosis, Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ca... |
OMIM:300257 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hepatomegaly, Aminoaciduria, Opacification of the corneal stroma, Pigmentary retinopathy, Intrahe... |
OMIM:214110 |
Cerebrooculonasal Syndrome |
|
Anophthalmia |
ORPHA:66625 |
Distal 22Q11.2 Microduplication Syndrome |
|
Tricuspid valve prolapse, Hydrocephalus, Branchial fistula, Palpebral edema, Ventricular septal d... |
ORPHA:261337 |
Charge Syndrome |
|
Abnormal cardiac septum morphology, Aqueductal stenosis, Holoprosencephaly, Short stature, Abnorm... |
ORPHA:138 |
Matthew-Wood Syndrome |
|
Intrauterine growth retardation, Anophthalmia, Microphthalmia |
ORPHA:2470 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Increased hepatic glycogen content, Optic atrophy, 3-Methylglutaconic aciduria, Cardiomyopathy, C... |
OMIM:619259 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Microphakia, Abnormality of retinal pigmentation, Lens subluxation, Retinal detachment, Cataract |
ORPHA:171844 |
Sickle Cell Anemia |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Hematuria, Renal insufficiency, Jaundice, Cardiomegaly |
OMIM:603903 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Hepatic failure, Hepatic calcification, Myoglobinuria, Cystic renal dysplasia, Red-... |
ORPHA:228308 |
Attrv122I Amyloidosis |
|
Cardiac amyloidosis, Aortic valve stenosis, Restrictive cardiomyopathy, Left ventricular hypertro... |
ORPHA:85451 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Cirrhotic Cardiomyopathy |
|
Right atrial enlargement, Hepatomegaly, Left ventricular hypertrophy, Cirrhosis, Conjunctival ict... |
ORPHA:57777 |
Hsd10 Disease, Infantile Type |
|
Retinal degeneration, Abnormal concentration of acylcarnitine in the urine, Optic atrophy, Hypert... |
ORPHA:391428 |
Lymphangiectasia, Pulmonary, Congenital |
|
Facial edema, Chylothorax, Chylous ascites, Palpebral edema, Nonimmune hydrops fetalis, Polyhydra... |
OMIM:265300 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Enlarged kidney, Ventricular septal... |
OMIM:306955 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
Microphthalmia, Syndromic 3 |
|
Short stature, Optic nerve hypoplasia, Anophthalmia, Ventricular septal defect, Patent ductus art... |
OMIM:206900 |
Morning Glory Disc Anomaly |
|
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Optic disc coloboma |
ORPHA:35737 |
Idiopathic Pulmonary Hemosiderosis |
|
Glomerulonephritis, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
ORPHA:99931 |
Microphthalmia, Syndromic 2 |
|
Double outlet right ventricle, Aortic valve stenosis, Atrial septal defect, Persistence of primar... |
OMIM:300166 |
Autosomal Dominant Keratitis |
|
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... |
ORPHA:2334 |
Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Microphthalmia |
ORPHA:139471 |
Alg3-Cdg |
|
Cardiomyopathy, Neural tube defect |
ORPHA:79321 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Chronic hepa... |
ORPHA:465508 |
Leigh Syndrome With Nephrotic Syndrome |
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Nephrotic syndrome, Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Cardiomegal... |
ORPHA:255249 |
Posterior Meningocele |
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Occipital meningocele, Hydrocephalus, Neural tube defect, Limitation of neck motion, Meningocele,... |
ORPHA:268810 |
Microphthalmia, Syndromic 5 |
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Optic nerve hypoplasia, Short stature, Anophthalmia, Microphthalmia |
OMIM:610125 |
Charge Syndrome |
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Double outlet right ventricle, Secundum atrial septal defect, Atrial septal defect, Microphthalmi... |
OMIM:214800 |
Polycystic Kidney, Cataract, And Congenital Blindness |
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Hypoplasia of the retina, Microcoria, Polycystic kidney dysplasia, Cataract |
OMIM:263100 |
Coronary Arterial Fistula |
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Bacterial endocarditis, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Paten... |
ORPHA:2041 |
Cataract 15, Multiple Types |
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Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract |
OMIM:615274 |
Wolfram Syndrome 1 |
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Hydroureter, Neurogenic bladder, Pigmentary retinopathy, Optic atrophy, Cataract, Hydronephrosis,... |
OMIM:222300 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
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Cataract, Microcornea, Aniridia |
OMIM:106230 |
Cantu Syndrome |
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Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion, Cardiomegaly |
OMIM:239850 |
Anterior Segment Dysgenesis 7 |
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Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea |
OMIM:269400 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
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Atrial septal defect, Chylothorax, Microphthalmia, Severe short stature, Anophthalmia, Lymphedema... |
ORPHA:2526 |
Coloboma, Ocular, Autosomal Recessive |
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Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract |
OMIM:216820 |
Treacher-Collins Syndrome |
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Branchial fistula, Microphthalmia, Patent ductus arteriosus, Encephalocele |
ORPHA:861 |
Amyloidosis, Hereditary, Transthyretin-Related |
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Cardiomyopathy, Cardiomegaly, Urinary incontinence |
OMIM:105210 |
Norrie Disease |
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Corneal opacity, Shallow anterior chamber, Buphthalmos, Retinal detachment, Opacification of the ... |
OMIM:310600 |
Cockayne Syndrome Type 1 |
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Postnatal growth retardation, Anophthalmia, Delayed eruption of primary teeth |
ORPHA:90321 |
Microphthalmia With Linear Skin Defects Syndrome |
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Tricuspid valve prolapse, Abnormal cardiac septum morphology, Hydrocephalus, Severe short stature... |
ORPHA:2556 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
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Micropenis, Hypospadias, Ventricular septal defect, Hydronephrosis, Hypertrophic cardiomyopathy, ... |
OMIM:616897 |
Alagille Syndrome 1 |
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Exocrine pancreatic insufficiency, Band keratopathy, Hepatic failure, Reduced number of intrahepa... |
OMIM:118450 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
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Branchial anomaly |
ORPHA:466950 |
Aorta Coarctation |
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Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Abnorma... |
ORPHA:1457 |
Amoebic Keratitis |
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Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... |
ORPHA:67043 |
Anterior Segment Dysgenesis 2 |
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Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... |
OMIM:610256 |
Holoprosencephaly 9 |
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Hydrocephalus, Holoprosencephaly, Short stature, Optic nerve hypoplasia, Anophthalmia, Microphtha... |
OMIM:610829 |
Fraser Syndrome 1 |
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Myelomeningocele, Hydrocephalus, Anophthalmia, Bilateral microphthalmos, Encephalocele, Abnormal ... |
OMIM:219000 |
Craniorachischisis |
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Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Pierson Syndrome |
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Remnants of the hyaloid vascular system, Nephrotic syndrome, Diffuse mesangial sclerosis, Retinal... |
OMIM:609049 |
Combined Oxidative Phosphorylation Deficiency 41 |
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Cardiomegaly |
OMIM:618838 |
Pseudo-Torch Syndrome 3 |
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Acute kidney injury, Proteinuria, Cardiomegaly |
OMIM:618886 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
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Mitral valve prolapse, Abnormal atrioventricular valve morphology, Aortic valve stenosis, Cardiom... |
ORPHA:324410 |
Papillorenal Syndrome |
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Nephrolithiasis, Chronic kidney disease, Absence of renal corticomedullary differentiation, Macul... |
OMIM:120330 |
Isolated Right Ventricular Hypoplasia |
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Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Patent forame... |
ORPHA:439 |
Focal Dermal Hypoplasia |
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Myelomeningocele, Hydrocephalus, Short stature, Anophthalmia, Delayed eruption of teeth, Spina bi... |
OMIM:305600 |
Alport Syndrome 2, Autosomal Recessive |
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Nephrotic syndrome, Nephritis, Hematuria, Cataract, Renal insufficiency, Proteinuria, Anterior le... |
OMIM:203780 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
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Atrial septal defect, Hepatomegaly, Micropenis, Pulmonic stenosis, Splenomegaly, Hepatosplenomega... |
OMIM:602782 |
Proboscis Lateralis |
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Holoprosencephaly, Optic nerve hypoplasia, Anophthalmia, Ventricular septal defect, Patent ductus... |
ORPHA:141099 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
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Hepatomegaly, Oligosacchariduria, Left ventricular hypertrophy, Elevated circulating alanine amin... |
ORPHA:308552 |
Oculotrichoanal Syndrome |
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Anophthalmia, Microphthalmia |
ORPHA:2717 |
Fucosidosis |
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Glycopeptiduria, Tortuosity of conjunctival vessels, Hepatomegaly, Oligosacchariduria, Splenomega... |
OMIM:230000 |
Histiocytoid Cardiomyopathy |
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Congenital aphakia, Corneal opacity, Hepatomegaly, Megalocornea, Ventricular septal defect, Optic... |
ORPHA:137675 |
Fraser Syndrome |
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Myelomeningocele, Anophthalmia, Umbilical hernia, Microphthalmia, Encephalocele |
ORPHA:2052 |
Complete Atrioventricular Septal Defect |
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Hepatomegaly, Primum atrial septal defect, Right ventricular hypertrophy, Displacement of the pap... |
ORPHA:1329 |
Microphthalmia With Limb Anomalies |
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Hydrocephalus, Short stature, Arrhinencephaly, True anophthalmia, Microphthalmia |
ORPHA:1106 |
Mucopolysaccharidosis Type 3 |
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Abnormal mitral valve morphology, Corneal opacity, Hepatomegaly, Retinal degeneration, Splenomega... |
ORPHA:581 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
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Cardiomegaly |
OMIM:613320 |
Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
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Edema |
OMIM:612097 |
Sandhoff Disease |
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Hepatosplenomegaly, Hepatomegaly, Cardiomegaly, Urinary incontinence |
OMIM:268800 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
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Rhizomelia, Anophthalmia, Microphthalmia |
OMIM:615877 |
Oculopalatocerebral Syndrome |
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Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
Iniencephaly |
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Myelomeningocele, Hydrocephalus, Holoprosencephaly, Anencephaly, Polyhydramnios, Spinal dysraphis... |
ORPHA:63259 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Biventricular hypertrophy, Cardiomyopathy, Cardiomegaly |
OMIM:261740 |
Knobloch Syndrome |
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Macular degeneration, Retinal detachment, Bifid ureter, Dextrocardia, Cataract, Vesicoureteral re... |
ORPHA:1571 |
Beckwith-Wiedemann Syndrome |
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Nephrolithiasis, Renal cortical cysts, Hepatomegaly, Hepatoblastoma, Pancreatic hyperplasia, Enla... |
OMIM:130650 |
8Q24.3 Microdeletion Syndrome |
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Atrioventricular canal defect, Short stature, Optic nerve hypoplasia, Short neck, Spina bifida oc... |
ORPHA:508488 |
Branchiooculofacial Syndrome |
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Short neck, Anophthalmia, Branchial anomaly, Microphthalmia, Postnatal growth retardation, Intrau... |
OMIM:113620 |
Craniofacial Microsomia |
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Hydrocephalus, Microphthalmia, Anophthalmia, Tetralogy of Fallot, Ventricular septal defect, Pate... |
OMIM:164210 |
Craniofaciofrontodigital Syndrome |
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Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Ventricular septal defect, Ab... |
ORPHA:363705 |
Beck-Fahrner Syndrome |
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Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
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Anophthalmia, Failure of eruption of permanent teeth, Microphthalmia |
ORPHA:2250 |
Optic Nerve Hypoplasia, Bilateral |
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Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic nerve hypoplasia |
OMIM:165550 |
Lethal Congenital Contracture Syndrome 10 |
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Ventricular septal defect, Overriding aorta, Cardiomegaly |
OMIM:617022 |
Mogs-Cdg |
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Atrial septal defect, Hepatomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Optic atrop... |
ORPHA:79330 |
Familial Aortic Dissection |
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Cardiomegaly |
ORPHA:229 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
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Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Retinal detachment, Peters anoma... |
OMIM:614643 |
Arterial Calcification, Generalized, Of Infancy, 1 |
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Dilated cardiomyopathy, Cardiomegaly, Renal artery stenosis |
OMIM:208000 |
14Q22Q23 Microdeletion Syndrome |
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Optic nerve aplasia, Anophthalmia, Short stature |
ORPHA:264200 |
Abetalipoproteinemia |
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Corneal ulceration, Abnormality of retinal pigmentation, Hepatomegaly, Cirrhosis, Elevated hepati... |
ORPHA:14 |
Cataract 5, Multiple Types |
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Nuclear cataract, Zonular cataract, Anterior polar cataract, Lamellar cataract, Pulverulent cataract |
OMIM:116800 |
Craniofaciofrontodigital Syndrome |
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Cardiomegaly, Abnormal heart morphology |
OMIM:114620 |
Oculo-Palato-Cerebral Syndrome |
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Remnants of the hyaloid vascular system, Retinal detachment, Cataract, Leukocoria |
ORPHA:2714 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Chordee, Atrial septal defect, Micropenis, Hypospadias, Pigmentary retinopathy, Ventricular septa... |
OMIM:309801 |
Gaucher Disease, Perinatal Lethal |
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Hepatomegaly, Hepatic failure, Splenomegaly, Hepatosplenomegaly, Cardiomegaly |
OMIM:608013 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
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Pollakisuria, Cardiomegaly, Right ventricular hypertrophy |
ORPHA:268 |
Glycogen Storage Disease Ii |
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Hepatomegaly, Splenomegaly, Cardiomegaly, Urinary incontinence |
OMIM:232300 |
Oculoauricular Syndrome |
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Microphakia, Retinal coloboma, Retinal detachment, Posterior embryotoxon, Microcornea, Iris colob... |
OMIM:612109 |
Aniridia 1 |
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Corneal neovascularization, Optic nerve hypoplasia, Ectopia pupillae, Opacification of the cornea... |
OMIM:106210 |
Cantú Syndrome |
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Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:1517 |
Naxos Disease |
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Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... |
OMIM:601214 |
Familial Idiopathic Dilatation Of The Right Atrium |
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Right atrial enlargement, Abnormality of the hepatic vasculature, Hepatomegaly, Right ventricular... |
ORPHA:1677 |
Liver Disease, Severe Congenital |
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Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Ventricular septal defect, Panc... |
OMIM:619991 |
Witteveen-Kolk Syndrome |
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Short stature, Branchial fistula, Polyhydramnios, Microphthalmia, Growth delay, Intrauterine grow... |
OMIM:613406 |
Mucolipidosis Ii Alpha/Beta |
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Hepatomegaly, Splenomegaly, Megalocornea, Opacification of the corneal stroma, Enlarged kidney, M... |
OMIM:252500 |
Bohring-Opitz Syndrome |
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Cholelithiasis, Abnormal cardiac septum morphology, Annular pancreas, Optic atrophy, Urinary rete... |
ORPHA:97297 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
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Bicuspid aortic valve, Atrial septal defect, Left ventricular hypertrophy, Mitral valve prolapse,... |
OMIM:245600 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
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Partial atrioventricular canal defect, Bicuspid aortic valve, Atrial septal defect, Secundum atri... |
OMIM:620066 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Hepatocellular necrosis, Microvesicular hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Vent... |
OMIM:618278 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Opacification of the corneal stroma, Cardiomegaly |
ORPHA:79280 |
Autoimmune Polyendocrine Syndrome, Type Ii |
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Exocrine pancreatic insufficiency, Band keratopathy, Cirrhosis, Chronic hepatitis, Keratoconjunct... |
OMIM:269200 |
Developmental And Epileptic Encephalopathy 95 |
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Hepatomegaly, Cardiomegaly |
OMIM:618143 |
Lethal Acantholytic Erosive Disorder |
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Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
Proximal Renal Tubular Acidosis |
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Nephrolithiasis, Band keratopathy, Aminoaciduria, Hyperuricosuria, Glycosuria, Global proximal tu... |
ORPHA:47159 |
Congenital Tracheomalacia |
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Atrial septal defect, Single ventricle, Tetralogy of Fallot, Ventricular septal defect, Partial a... |
ORPHA:95430 |
Beckwith-Wiedemann Syndrome |
|
Nephrolithiasis, Exocrine pancreatic insufficiency, Abnormal pancreas morphology, Hepatomegaly, H... |
ORPHA:116 |
Absence Of The Pulmonary Artery |
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Abnormal cardiac septum morphology, Atrial septal defect, Tetralogy of Fallot, Truncus arteriosus... |
ORPHA:980 |
Ogden Syndrome |
|
Global glomerulosclerosis, Bicuspid aortic valve, Secundum atrial septal defect, Atrial septal de... |
OMIM:300855 |
Aicardi-Goutières Syndrome |
|
Prolonged neonatal jaundice, Micropenis, Hepatosplenomegaly, Elevated hepatic transaminase, Devel... |
ORPHA:51 |
Williams Syndrome |
|
Cholelithiasis, Abnormal cardiac septum morphology, Blue irides, Megalocornea, Ventricular septal... |
ORPHA:904 |
Truncus Arteriosus |
|
Atrial septal defect, Right ventricular hypertrophy, Pulmonic stenosis, Tetralogy of Fallot, Vent... |
ORPHA:3384 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Abnormality iris morphology |
ORPHA:91387 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Oligosacchariduria, Left ventricular hypertrophy, Elevated circulating alanine amin... |
ORPHA:365 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Ventricular septal defect, Hepatomegaly, Cardiomegaly |
ORPHA:96191 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Atrial septal... |
ORPHA:99125 |
Neuroocular Syndrome |
|
Remnants of the hyaloid vascular system, Blue irides, Stellate iris, Microcornea, Peters anomaly,... |
OMIM:619539 |
Norrie Disease |
|
Remnants of the hyaloid vascular system, Corneal opacity, Abnormal pupil morphology, Anterior cha... |
ORPHA:649 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Right ventricular hypertroph... |
OMIM:300967 |
Yunis-Varon Syndrome |
|
Atrial septal defect, Micropenis, Hypospadias, Sclerocornea, Tetralogy of Fallot, Renovascular hy... |
ORPHA:3472 |
Semilobar Holoprosencephaly |
|
Hydrocephalus, Short stature, Neural tube defect, Growth delay, Abnormal heart morphology |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Hydrocephalus, Short stature, Neural tube defect, Growth delay, Abnormal heart morphology |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Hydrocephalus, Short stature, Neural tube defect, Growth delay, Abnormal heart morphology |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Hydrocephalus, Short stature, Neural tube defect, Growth delay, Abnormal heart morphology |
ORPHA:93924 |
Neurofibromatosis Type 2 |
|
Cortical cataract, Remnants of the hyaloid vascular system, Posterior subcapsular cataract |
ORPHA:637 |
Generalized Arterial Calcification Of Infancy |
|
Medullary nephrocalcinosis, Hepatic calcification, Retinal hemorrhage, Pancreatic calcification, ... |
ORPHA:51608 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Splenomegaly, Restrictive cardiomyopathy, Endocar... |
ORPHA:75565 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Punctate opacification of the cornea, Elevated hepatic transaminase, ... |
OMIM:256040 |
Microphthalmia, Syndromic 6 |
|
Anophthalmia, Microphthalmia |
OMIM:607932 |
Schinzel-Giedion Syndrome |
|
Short neck, Delayed eruption of teeth, Neural tube defect, Umbilical hernia, Abnormal heart morph... |
ORPHA:798 |
Microphthalmia, Syndromic 1 |
|
Bicuspid aortic valve, Anophthalmia, Microphthalmia, Growth delay, Webbed neck |
OMIM:309800 |
Holoprosencephaly 2 |
|
Single ventricle, Remnants of the hyaloid vascular system, Iris coloboma |
OMIM:157170 |
Singleton-Merten Syndrome 1 |
|
Aortic valve calcification, Aortic valve stenosis, Mitral valve calcification, Subvalvular aortic... |
OMIM:182250 |