Plasma Fibronectin Deficiency |
|
Reduced circulating fibronectin level |
OMIM:614101 |
Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
Nephronophthisis 16 |
|
Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Aortic valve stenosi... |
OMIM:615382 |
Gombo Syndrome |
|
Microphthalmia, Abnormal heart morphology |
OMIM:233270 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... |
OMIM:613496 |
Meckel Syndrome, Type 8 |
|
Anophthalmia, Pericardial effusion, Polycystic kidney dysplasia, Microphthalmia, Hyperechogenic k... |
OMIM:613885 |
Hepatorenocardiac Degenerative Fibrosis |
|
Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ... |
OMIM:619902 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Abnormal heart morp... |
ORPHA:85445 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... |
OMIM:602088 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Hepatomegaly, Enlarged kidney |
OMIM:615285 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia |
OMIM:207731 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Hepatomegaly |
ORPHA:2432 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Ventricular septal defect, Ectopic kidney, Microphthalmia, Cystic renal dysplasia |
OMIM:613730 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Situs inversus totalis, Hypertrophic cardiomyopathy, Aortic valve stenosis, Pulmoni... |
OMIM:615415 |
Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia |
ORPHA:158048 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... |
ORPHA:90041 |
Multiple Myeloma |
|
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia |
ORPHA:29073 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Microphthalmia, Ventricular septal defect |
OMIM:615297 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:730 |
Mmep Syndrome |
|
Microphthalmia, Ventricular septal defect |
ORPHA:3434 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia |
OMIM:152800 |
Immunodeficiency 43 |
|
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia |
OMIM:241600 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Urethral atresia, Transposition of the great arteries, Atrioventricular canal defec... |
OMIM:314390 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal... |
OMIM:263200 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Nephropathy, Abnormal renal physiology, Cardiomegaly |
ORPHA:85447 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia, Ventricular septal defect, Hypoplastic left atrium |
OMIM:615524 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia |
ORPHA:1116 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert... |
OMIM:620135 |
Cat-Eye Syndrome |
|
Microphthalmia, Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:195 |
Alpha-Fetoprotein, Hereditary Persistence Of |
|
Elevated circulating alpha-fetoprotein concentration |
OMIM:615970 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria, Microphthalmia |
OMIM:120433 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hepatomegaly, Ketonuria, Renal hypoplasia, Microphthalmia, Hypertrophic cardiomyopathy |
OMIM:619053 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Microphthalmia, Ventricular septal defect |
ORPHA:3469 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic... |
OMIM:608836 |
Meacham Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary venou... |
OMIM:608978 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Nephrotic syndrome, Focal segmental glomerulosclerosis, ... |
OMIM:617303 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Bicuspid aortic valve, Unilateral microphthalmos, Horseshoe kidney |
OMIM:619318 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Microphthalmia, Cardiomegaly |
ORPHA:858 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Uraciluria |
OMIM:274270 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Renal insufficiency, Situs inversus totalis, Splenomegaly, Ureteral atresia, Stage ... |
OMIM:208540 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Atrial septal defect, Microphthalmia, Patent foramen ovale |
OMIM:618652 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia |
OMIM:616570 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Abnormality of the blad... |
ORPHA:2547 |
Biemond Syndrome Type 2 |
|
Microphthalmia, Hypospadias |
ORPHA:141333 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney |
OMIM:608022 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Penoscrotal hypospadias, Ventricular septal defect, Dextrocardia, Coronar... |
OMIM:618280 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... |
OMIM:130650 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia |
ORPHA:2528 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Atrial septal defect, Microphthalmia, Tetralogy of Fallot, Ventricular hypertrophy |
OMIM:300887 |
Joubert Syndrome 22 |
|
Microphthalmia, Renal hypoplasia |
OMIM:615665 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney, Macroscopic hematuria |
ORPHA:251004 |
Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia, Nephroblastoma, Ventricular septal defect |
OMIM:602501 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Ventricular septal defect, Unilateral renal agenesis, Renal hypoplasia, Abnormal heart morphology... |
OMIM:618494 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Abnormal heart morphology, Hepatosplenomegaly, N... |
ORPHA:505248 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Nephrotic syndrome, Cardiomegaly |
OMIM:269920 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Seckel Syndrome 2 |
|
Microphthalmia, Hypospadias, Ectopic kidney |
OMIM:606744 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Optic nerve hypoplasia, Abnormal renal morphology, Vesicoureteral refl... |
OMIM:609053 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Decreased glomeru... |
OMIM:232200 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Aplasia/Hypoplasia of the iris, Atrial sep... |
ORPHA:290 |
Dengue Fever |
|
Hypoproteinemia |
ORPHA:99828 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
Congenital Varicella Syndrome |
|
Microphthalmia |
ORPHA:291 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Splenomegaly, Nephrolithiasis, Focal segmental glomerulosclerosis, Dec... |
OMIM:232220 |
Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Dilated cardiomyopathy, Hepatomegaly |
OMIM:618805 |
Tyrosinemia, Type I |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Glomer... |
OMIM:276700 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... |
ORPHA:26793 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
ORPHA:90362 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Hypoproteinemia |
OMIM:608093 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:226300 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Bresek Syndrome |
|
Hypoplasia of the bladder, Optic nerve hypoplasia, Renal hypoplasia, Vesicoureteral reflux, Micro... |
ORPHA:85284 |
Kaposiform Lymphangiomatosis |
|
Pericardial effusion, Splenomegaly, Hepatosplenomegaly, Multiple renal cysts, Enlarged kidney |
ORPHA:464329 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Leptospirosis |
|
Hyperproteinemia |
ORPHA:509 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Hematuria, Microphthalmia |
ORPHA:1473 |
Alg9-Cdg |
|
Hepatomegaly, Hypoplasia of the bladder, Ventricular septal defect, Ureteral hypoplasia, Pericard... |
ORPHA:79328 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Bilateral renal agenesis, Microphtha... |
OMIM:617914 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia |
OMIM:616171 |
Neuraminidase Deficiency |
|
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Cardiomegaly, Spleno... |
OMIM:256550 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:1617 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia, Cardiomyopathy |
OMIM:613155 |
Trisomy 13 |
|
Anophthalmia, Ventricular septal defect, Displacement of the urethral meatus, Abnormality of the ... |
ORPHA:3378 |
Meckel Syndrome, Type 4 |
|
Atrial septal defect, Microphthalmia, Ventricular septal defect, Renal cyst |
OMIM:611134 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Lens coloboma, Renal hypoplasia, Pulmonic stenosis, Microphthalmia, Patent foramen ovale |
OMIM:618914 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h... |
OMIM:252920 |
Cofs Syndrome |
|
Microphthalmia |
ORPHA:1466 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hy... |
OMIM:212140 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Nephroblastoma |
OMIM:253250 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Pierpont Syndrome |
|
Microphthalmia, Micropenis |
OMIM:602342 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... |
OMIM:300280 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia |
OMIM:300915 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia |
ORPHA:1528 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Igg4-Related Kidney Disease |
|
Pericarditis, Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urina... |
ORPHA:449395 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney |
OMIM:200995 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney |
OMIM:613091 |
Matthew-Wood Syndrome |
|
Anophthalmia, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Microphthalmia |
ORPHA:2470 |
Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal right ventri... |
ORPHA:500095 |
17Q12 Microduplication Syndrome |
|
Atrial septal defect, Microphthalmia |
ORPHA:261272 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia |
OMIM:614082 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Enlarged kidney |
ORPHA:79128 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia, Ventricular septal defect |
ORPHA:93267 |
Cat Eye Syndrome |
|
Ventricular septal defect, Renal agenesis, Vesicoureteral reflux, Horseshoe kidney, Hypoplastic l... |
OMIM:115470 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypoproteinemia, Hypocalcemia |
OMIM:235255 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Nephrocalcinosis, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Hypoplasia of the iris, Subvalvular aortic stenosis, Atrial septal def... |
OMIM:613001 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Hypospadias, Microphthalmia |
ORPHA:77298 |
H Syndrome |
|
Micropenis, Abnormality of the kidney, Enlarged kidney, Hepatosplenomegaly |
ORPHA:168569 |
Johanson-Blizzard Syndrome |
|
Hypoproteinemia |
ORPHA:2315 |
Meckel Syndrome, Type 5 |
|
Microphthalmia, Renal cyst |
OMIM:611561 |
Congenital Fibrinogen Deficiency |
|
Left ventricular hypertrophy, Microphthalmia, Micropenis, Right ventricular hypertrophy |
ORPHA:335 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Microphthalmia |
OMIM:613153 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Hypertrophic cardiomyopathy, Enl... |
OMIM:252500 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614702 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Oligosacchariduria, Cardiomegaly |
ORPHA:3137 |
Joubert Syndrome 37 |
|
Microphthalmia, Micropenis, Hydronephrosis, Hepatomegaly |
OMIM:619185 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia, Micropenis |
OMIM:308350 |
Endocrine-Cerebroosteodysplasia |
|
Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney |
OMIM:612651 |
Pierpont Syndrome |
|
Microphthalmia |
ORPHA:487825 |
Attrv122I Amyloidosis |
|
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... |
ORPHA:85451 |
Hyperparathyroidism, Transient Neonatal |
|
Unilateral renal agenesis, Enlarged kidney |
OMIM:618188 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
Microphthalmia, Syndromic 9 |
|
Renal malrotation, Anophthalmia, Ventricular septal defect, Bilateral microphthalmos, Hypoplastic... |
OMIM:601186 |
Pseudotrisomy 13 Syndrome |
|
Ventricular septal defect, Dextrocardia, Renal agenesis, Complete atrioventricular canal defect, ... |
OMIM:264480 |
Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Hypospadias, Abnormal heart morphology, Vesicoureteral reflux, Microph... |
ORPHA:494344 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hypoproteinemia, Elevated circulating creatine kinase concentration |
OMIM:615895 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Hepatomegaly, Unilateral microphthalmos |
OMIM:615085 |
Omenn Syndrome |
|
Hypoproteinemia |
OMIM:603554 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia |
ORPHA:324416 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Ureteral duplication, Nephroblastoma, Cardiomegaly, Splenomegaly, Nephrolithiasis, ... |
ORPHA:116 |
Refsum Disease, Classic |
|
Cardiomyopathy, Abnormal renal physiology, Cardiomegaly |
OMIM:266500 |
Carnitine Palmitoyltransferase I Deficiency |
|
Renal tubular acidosis, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly |
OMIM:255120 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis |
ORPHA:3191 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:164180 |
Kapur-Toriello Syndrome |
|
Microphthalmia, Hypoplasia of penis, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:2328 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypoproteinemia, Hypocalcemia |
ORPHA:1655 |
Ogden Syndrome |
|
Global glomerulosclerosis, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal def... |
OMIM:300855 |
Warburg Micro Syndrome 1 |
|
Microphthalmia |
OMIM:600118 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
Fanconi Anemia, Complementation Group A |
|
Duplicated collecting system, Renal agenesis, Ectopic kidney, Abnormal renal morphology, Horsesho... |
OMIM:227650 |
Frontonasal Dysplasia 1 |
|
Microphthalmia, Tetralogy of Fallot |
OMIM:136760 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Enlarged kidney |
ORPHA:276280 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypospadias, Cardiomegaly, Micropenis, Hypertrophic cardiomyopathy, Hy... |
OMIM:616897 |
Spondylo-Ocular Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the lens, Ventricular septal defect |
ORPHA:85194 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly |
ORPHA:42 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Nephrocalcinosis, Enl... |
ORPHA:79259 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia |
OMIM:251270 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia |
ORPHA:48431 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Renal tu... |
ORPHA:228308 |
Fanconi Anemia, Complementation Group E |
|
Duplicated collecting system, Renal agenesis, Ectopic kidney, Horseshoe kidney, Abnormal heart mo... |
OMIM:600901 |
Autosomal Recessive Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Splenomegaly, Oliguria, Stage 5 chronic ... |
ORPHA:731 |
Refsum Disease |
|
Splenomegaly, Microphthalmia, Renal insufficiency, Cardiomyopathy |
ORPHA:773 |
Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
Marden-Walker Syndrome |
|
Hypospadias, Dextrocardia, Renal hypoplasia, Microphthalmia, Micropenis |
OMIM:248700 |
Timothy Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiomegaly, Nephrotic syndrome, Cardiomyopathy, Left ventricular hypertrophy |
OMIM:617713 |
Stevenson-Carey Syndrome |
|
Atrial septal defect, Microphthalmia, Recurrent urinary tract infections |
OMIM:611961 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Ho... |
ORPHA:99776 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Atrial septal defect, Microphthalmia, Proteinuria, Multiple bladder diverticula |
ORPHA:2728 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent urinary tract infections, Mitral valve prolapse, Abnormal heart morphology, Enuresis no... |
OMIM:615873 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Cardiomegaly, Hypertrophic c... |
OMIM:201475 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
Duane-Radial Ray Syndrome |
|
Renal malrotation, Ventricular septal defect, Optic disc hypoplasia, Renal agenesis, Vesicoureter... |
OMIM:607323 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Methylmalonic aciduria, Elevated urinary aminoisobutyric ... |
OMIM:614105 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia |
OMIM:619694 |
Hemochromatosis, Type 1 |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:235200 |
Baraitser-Winter Syndrome 1 |
|
Microphthalmia, Aortic valve stenosis, Bicuspid aortic valve, Micropenis |
OMIM:243310 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia, Renal hypoplasia/aplasia |
ORPHA:1438 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine in the urine, Abnormality of... |
ORPHA:391428 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Glomerulonephritis, Cardiomegaly |
ORPHA:99931 |
Pseudo-Torch Syndrome 3 |
|
Acute kidney injury, Proteinuria, Cardiomegaly |
OMIM:618886 |
Microphthalmia, Syndromic 8 |
|
Microphthalmia |
OMIM:601349 |
Lissencephaly 8 |
|
Microphthalmia |
OMIM:617255 |
Temtamy Syndrome |
|
Microphthalmia |
ORPHA:1777 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Hypertrophic cardio... |
ORPHA:508 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Micropenis |
OMIM:610756 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:615181 |
Fanconi Anemia, Complementation Group F |
|
Vesicoureteral reflux, Renal hypoplasia, Microphallus, Atrial septal defect, Microphthalmia, Pelv... |
OMIM:603467 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia |
ORPHA:167 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
Meckel Syndrome, Type 2 |
|
Microphthalmia, Renal cyst |
OMIM:603194 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... |
ORPHA:324410 |
Chromosome 17Q12 Duplication Syndrome |
|
Atrial septal defect, Microphthalmia |
OMIM:614526 |
Sandestig-Stefanova Syndrome |
|
Microphthalmia, Muscular ventricular septal defect, Perimembranous ventricular septal defect |
OMIM:618804 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Hartsfield Syndrome |
|
Microphthalmia |
ORPHA:2117 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia, Pelvic kidney |
OMIM:617244 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Hypospadias, Atrial septal defect, Microphthalmia, Hydronephrosis |
OMIM:616449 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Micropenis, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
Joubert Syndrome 14 |
|
Microphthalmia, Ventricular septal defect, Renal cyst |
OMIM:614424 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia |
OMIM:614583 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Abnormality of the urinary system, Atrial septal defect, Microphthalmi... |
OMIM:244300 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia, Renal dysplasia, Abnormal heart morphology |
OMIM:618571 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia, Ventricular septal defect, Abnormal heart morphology |
ORPHA:404440 |
Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Optic nerve aplasia, Vesicoureteral reflux |
OMIM:120200 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Crossed fused renal ect... |
ORPHA:2538 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Ventricular septal defect, Hypospadias, Splenomegaly, Renal cyst, Cardiomyopathy, D... |
OMIM:312870 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia |
OMIM:601794 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Microphthalmia, Optic nerve hypoplasia, Cardiomyopathy |
ORPHA:370959 |
Fryns Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Abnormal cardiac septum morphology, Vesicoureteral ref... |
ORPHA:2059 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia |
ORPHA:2788 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
Fraser Syndrome 2 |
|
Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Aplasia of the bl... |
OMIM:617666 |
Sickle Cell Disease |
|
Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Hematuria |
OMIM:603903 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ventricular septal defect, Bilateral microphthalmos, Patent foramen ovale, Abnormal heart morphology |
ORPHA:369891 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia |
OMIM:214150 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia, Oligosacchariduria |
ORPHA:163649 |
3Q29 Microdeletion Syndrome |
|
Microphthalmia, Hypospadias, Horseshoe kidney, Subvalvular aortic stenosis |
ORPHA:65286 |
Moebius Syndrome |
|
Microphthalmia, Micropenis |
OMIM:157900 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Fanconi Anemia, Complementation Group C |
|
Duplicated collecting system, Renal agenesis, Ventricular septal defect, Ectopic kidney, Horsesho... |
OMIM:227645 |
3P25.3 Microdeletion Syndrome |
|
Atrial septal defect, Microphthalmia, Ventricular septal defect, Pulmonic stenosis |
ORPHA:435638 |
Teebi-Shaltout Syndrome |
|
Ureteral stenosis, Ventricular septal defect, Horseshoe kidney, Microphthalmia, Aortic valve sten... |
OMIM:272950 |
Acro-Renal-Ocular Syndrome |
|
Renal malrotation, Optic disc hypoplasia, Renal hypoplasia/aplasia, Horseshoe kidney, Bladder div... |
ORPHA:959 |
Fanconi Anemia, Complementation Group D2 |
|
Duplicated collecting system, Renal agenesis, Ectopic kidney, Horseshoe kidney, Abnormal heart mo... |
OMIM:227646 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
Pallister-Hall Syndrome |
|
Renal dysplasia, Hydroureter, Ventricular septal defect, Distal urethral duplication, Ectopic kid... |
OMIM:146510 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Gracile Bone Dysplasia |
|
Aniridia, Microphthalmia, Micropenis |
OMIM:602361 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
Oculofaciocardiodental Syndrome |
|
Microphthalmia, Abnormal cardiac septum morphology, Mitral valve prolapse |
ORPHA:2712 |
Fucosidosis |
|
Hepatomegaly, Mucopolysacchariduria, Cardiomegaly |
ORPHA:349 |
Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia, Atrioventricular canal defect |
OMIM:619135 |
Fetal Alcohol Syndrome |
|
Atrial septal defect, Microphthalmia |
ORPHA:1915 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia, Abnormal cardiac septum morphology |
ORPHA:1352 |
Mosaic Trisomy 1 |
|
Ventricular septal defect, Renal cortical cysts, Renal cyst, Microphthalmia, Micropenis, Penile h... |
ORPHA:1692 |
Micro Syndrome |
|
Microphthalmia, Hypoplasia of penis, Hydronephrosis, Abnormal localization of kidney |
ORPHA:2510 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... |
ORPHA:57777 |
Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly |
OMIM:268800 |
Heart And Brain Malformation Syndrome |
|
Microphthalmia, Ventricular septal defect |
OMIM:616920 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly |
OMIM:208000 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, Pulmonic stenos... |
OMIM:253800 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, 3-Methylglutaconic aciduria, Cardiomegaly |
OMIM:619259 |
Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
Microphthalmia, Lenz Type |
|
Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Microphthalmia, Hydronephrosis |
ORPHA:568 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Optic nerve hypoplasia, Truncus arteriosus, Ventricular septal defect, Hyp... |
ORPHA:508498 |
Nance-Horan Syndrome |
|
Microphthalmia |
ORPHA:627 |
Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Ventricular septal defect, Renal hypoplasia/aplasia, Horseshoe kidn... |
ORPHA:2092 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia |
OMIM:614219 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Urinary incontinence, Cardiomegaly |
OMIM:105210 |
Warburg Micro Syndrome 4 |
|
Microphthalmia, Micropenis |
OMIM:615663 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Hypospadias, Penoscrotal transposition, Pulmonic stenosis, Left ventricular hypertrophy, Micropht... |
OMIM:619148 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Dilated cardiomyopathy, Hydronephrosis |
OMIM:614921 |
Steinfeld Syndrome |
|
Microphthalmia, Unilateral renal dysplasia, Abnormal heart morphology |
OMIM:184705 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
1Q21.1 Microdeletion Syndrome |
|
Vesicoureteral reflux, Microphthalmia, Abnormal cardiac septum morphology, Hydronephrosis |
ORPHA:250989 |
Tetraamelia-Multiple Malformations Syndrome |
|
Microphthalmia, Septo-optic dysplasia, Multicystic kidney dysplasia |
ORPHA:3301 |
Bartsocas-Papas Syndrome 2 |
|
Microphthalmia |
OMIM:619339 |
Alpha-Fetoprotein Deficiency |
|
Decreased circulating alpha-fetoprotein concentration |
OMIM:615969 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:152950 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia, Ventricular septal defect |
OMIM:234050 |
Meckel Syndrome 14 |
|
Microphthalmia, Polycystic kidney dysplasia, Single ventricle |
OMIM:619879 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... |
OMIM:619991 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia |
OMIM:612379 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Bilateral microphthalmos, Abnormal heart morphology |
OMIM:610758 |
Monosomy 18P |
|
Microphthalmia |
ORPHA:1598 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Abnormally large globe |
OMIM:615249 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia |
OMIM:167730 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Renal cyst, Microphthalmia, Congenital aph... |
ORPHA:137675 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Cardiomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hypertrophic cardio... |
ORPHA:308552 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Abnormal localization of kidney, Abno... |
ORPHA:2166 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Hypospadias, Chordee, Atrial septal defect, Micropht... |
OMIM:309801 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Rieger anomaly, Hypoplasia of the ciliary body, Proteinuria, Stage 5... |
OMIM:609049 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
3Q29 Microduplication Syndrome |
|
Aniridia, Microphthalmia, Ventricular septal defect |
ORPHA:251038 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Hypospadias, Male urethral meatus stenosis, Atrial septal defect, Micr... |
ORPHA:464738 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
Temtamy Syndrome |
|
Microphthalmia |
OMIM:218340 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
Mycophenolate Mofetil Embryopathy |
|
Microphthalmia, Ventricular septal defect, Ectopic kidney |
ORPHA:268249 |
Hydrolethalus |
|
Microphthalmia, Anophthalmia |
ORPHA:2189 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Glo... |
OMIM:617729 |
Warburg Micro Syndrome 3 |
|
Microphthalmia, Micropenis |
OMIM:614222 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Hypospadias, Unilateral microphthalmos, Mitral valve prolapse |
OMIM:618874 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Abnormally large globe, Mitral valve prolapse, Atrial septal... |
OMIM:245600 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
ORPHA:465508 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Hypospadias... |
OMIM:206900 |
Martsolf Syndrome 1 |
|
Microphthalmia, Micropenis, Cardiomyopathy |
OMIM:212720 |
Adams-Oliver Syndrome |
|
Microphthalmia, Tetralogy of Fallot, Abnormal pulmonary valve morphology |
ORPHA:974 |
Stromme Syndrome |
|
Hydronephrosis, Microphthalmia, Bilateral renal hypoplasia, Optic nerve hypoplasia |
OMIM:243605 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia, Ventricular septal defect |
OMIM:612530 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia |
OMIM:300863 |
Joubert Syndrome 2 |
|
Microphthalmia, Renal insufficiency, Renal cyst, Nephronophthisis |
OMIM:608091 |
Walker-Warburg Syndrome |
|
Microphthalmia, Hypoplasia of penis, Anophthalmia |
ORPHA:899 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Pollakisuria, Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia |
OMIM:617883 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Microphthalmia, Hydronephrosis |
ORPHA:35173 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Glandular hypospadias, Cardiomegaly |
OMIM:620306 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia |
ORPHA:139471 |
Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Histiocytoid cardiomyopathy, Microphthalmia, Dilated cardiomyopathy |
OMIM:300952 |
Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy |
ORPHA:79330 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia |
OMIM:147250 |
Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly |
OMIM:617022 |
Cockayne Syndrome Type 3 |
|
Hepatomegaly, Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Sp... |
ORPHA:90324 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Microphthalmia, Micropenis |
OMIM:241410 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Mitral v... |
OMIM:602782 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Microphthalmia, Hypospadias |
ORPHA:2505 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Hypoplasia of the iris, Nephrotic ... |
OMIM:251300 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia |
ORPHA:228390 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Otodental Syndrome |
|
Microphthalmia, Lens coloboma |
ORPHA:2791 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia |
OMIM:169550 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia |
OMIM:607597 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia |
OMIM:206920 |
Warburg Micro Syndrome 2 |
|
Microphthalmia, Micropenis |
OMIM:614225 |
Fanconi Anemia |
|
Recurrent urinary tract infections, Hydroureter, Hypospadias, Renal insufficiency, Renal hypoplas... |
ORPHA:84 |
Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Cardiomegaly |
OMIM:608013 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia |
ORPHA:163966 |
Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia |
OMIM:616395 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
Frontofacionasal Dysplasia |
|
Microphthalmia |
ORPHA:1791 |
Trisomy 18 |
|
Ventricular septal defect, Abnormality of the upper urinary tract, Atrial septal defect, Micropht... |
ORPHA:3380 |
Phace Association |
|
Microphthalmia, Ventricular septal defect, Optic nerve hypoplasia |
OMIM:606519 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Bilateral microphthalmos |
ORPHA:2399 |
Glycogen Storage Disease Ii |
|
Splenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly |
OMIM:232300 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia, Hydronephrosis |
OMIM:302960 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Glycopeptiduria, Oligosacchariduria |
OMIM:230000 |
Vitreoretinochoroidopathy |
|
Microphthalmia |
OMIM:193220 |
Meckel Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Anophthalmia, Situs inversus totalis, Aplasia... |
ORPHA:564 |
Curry-Jones Syndrome |
|
Microphthalmia |
ORPHA:1553 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Overriding aorta, Renal hypoplasia/aplasia, Abnormal localization of kidney, Microphthalmia, Tetr... |
ORPHA:3186 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia, Hypospadias |
OMIM:615877 |
Jacobsen Syndrome |
|
Ventricular septal defect, Hypospadias, Macular hypoplasia, Atrial septal defect, Microphthalmia |
OMIM:147791 |
Fanconi Anemia, Complementation Group L |
|
Microphthalmia, Micropenis, Renal hypoplasia, Unilateral renal agenesis |
OMIM:614083 |
Oculopalatocerebral Syndrome |
|
Microphthalmia |
OMIM:257910 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia |
OMIM:617306 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
Cohen Syndrome |
|
Microphthalmia, Ventricular septal defect, Mitral valve prolapse |
ORPHA:193 |
Lymphedema-Distichiasis Syndrome |
|
Microphthalmia, Tetralogy of Fallot, Ventricular septal defect |
OMIM:153400 |
Phace Syndrome |
|
Optic nerve hypoplasia, Lens coloboma, Abnormal heart morphology, Abnormal cardiac septum morphol... |
ORPHA:42775 |
Holoprosencephaly |
|
Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Abnormal pulmonary valve morphology... |
ORPHA:2162 |
Vacterl With Hydrocephalus |
|
Microphthalmia, Anophthalmia, Renal agenesis, Renal hypoplasia/aplasia |
ORPHA:3412 |
Mosaic Variegated Aneuploidy Syndrome |
|
Multicystic kidney dysplasia, Subvalvular aortic stenosis, Atrial septal defect, Microphthalmia, ... |
ORPHA:1052 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia |
OMIM:620098 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia |
OMIM:616538 |
Fryns Syndrome |
|
Ureteral duplication, Ventricular septal defect, Hypospadias, Renal agenesis, Renal cyst, Atrial ... |
OMIM:229850 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microphthalmia, Renal hypoplasia, Renal cyst |
OMIM:616300 |
8Q21.11 Microdeletion Syndrome |
|
Microphthalmia, Hypoplasia of penis |
ORPHA:284160 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Ventricular septal defect, Hypospadias, Renal cyst, Vesicoureteral reflux, Microphthalmia, Patent... |
OMIM:616975 |
Familial Exudative Vitreoretinopathy |
|
Microphthalmia |
ORPHA:891 |
22Q11.2 Deletion Syndrome |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Hypospadias, Splenomegaly, Vesico... |
ORPHA:567 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly |
OMIM:618143 |
Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormal pulmonary valve morphology, Abnor... |
ORPHA:857 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Mucopolysaccharidur... |
ORPHA:581 |
Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Buphthalmos |
OMIM:310600 |
Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Hypoplastic left heart, Pulmonic stenosis, Atri... |
OMIM:100300 |
Degcags Syndrome |
|
Hepatomegaly, Recurrent urinary tract infections, Ventricular septal defect, Hypospadias, Bilater... |
OMIM:619488 |
Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Microphthalmia, Micropenis |
OMIM:614230 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Atrial septal defect, Microphthalmia, Patent foramen ovale, Renal hypoplasia |
OMIM:620005 |
Renpenning Syndrome 1 |
|
Ventricular septal defect, Hypospadias, Phimosis, Situs inversus totalis, Renal hypoplasia, Atria... |
OMIM:309500 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Anophthalmia, Hypospadias, Epispadias, Dilated cardiomyopathy, Mitral ... |
ORPHA:2556 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia |
ORPHA:1806 |
2Q31.1 Microdeletion Syndrome |
|
Atrial septal defect, Microphthalmia, Ventricular septal defect |
ORPHA:251014 |
Pelvis-Shoulder Dysplasia |
|
Bilateral microphthalmos, Hydronephrosis |
ORPHA:2839 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
Proboscis Lateralis |
|
Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Unilateral renal agenesis, Urete... |
ORPHA:141099 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
Atelis Syndrome 2 |
|
Microphthalmia, Pulmonic stenosis, Supravalvar pulmonary stenosis |
OMIM:620185 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Microphthalmia, Complete atrioventricular canal defect, Tetralogy of Fallot, Micropenis |
OMIM:617925 |
Meckel Syndrome, Type 1 |
|
Hypoplasia of the bladder, Renal agenesis, Splenomegaly, Abnormality of the ureter, Abnormal card... |
OMIM:249000 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Hypoplasia of penis, Anophthalmia |
ORPHA:2250 |
Oculocerebrorenal Syndrome Of Lowe |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Proximal renal tubular acidosis, Nephrolithiasi... |
ORPHA:534 |
Monosomy 9Q22.3 |
|
Microphthalmia, Nephroblastoma, Cardiac fibroma |
ORPHA:77301 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, Ventricular septal defect, Dextrocardia, Hypospadias, Phthisis bulbi, Double outlet... |
OMIM:300166 |
Cousin Syndrome |
|
Microphthalmia, Hydronephrosis |
OMIM:260660 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Hypospadias, Cardiomegaly, Bilateral microphthalmos, Renovascular hype... |
ORPHA:3472 |
Nance-Horan Syndrome |
|
Microphthalmia |
OMIM:302350 |
Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Abnormal tubulointerstitial morphology,... |
ORPHA:904 |
Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia |
ORPHA:91495 |
Ohdo Syndrome, X-Linked |
|
Microphthalmia, Micropenis |
OMIM:300895 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypospadias, Horseshoe kidney, Total anomalous pulmonary venous return, Atrial septal defect, Mic... |
OMIM:609945 |
Oculodentodigital Dysplasia |
|
Atrial septal defect, Microphthalmia, Neurogenic bladder |
OMIM:164200 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Buphthalmos, Microphthalmia, Renal dysplasia, Optic nerve hypoplasia |
OMIM:236670 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microphthalmia |
OMIM:257850 |
Charge Syndrome |
|
Anophthalmia, Horseshoe kidney, Abnormal cardiac septum morphology, Abnormal aortic valve morphol... |
ORPHA:138 |
Bohring-Opitz Syndrome |
|
Nephroblastoma, Abnormal cardiac septum morphology, Urinary retention, Cardiomegaly |
ORPHA:97297 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microphthalmia |
OMIM:156610 |
Bartsocas-Papas Syndrome 1 |
|
Microphthalmia, Micropenis, Patent foramen ovale, Ectopic kidney |
OMIM:263650 |
Chromosome 13Q14 Deletion Syndrome |
|
Microphthalmia, Ventricular septal defect, Patent foramen ovale, Micropenis |
OMIM:613884 |
Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia |
OMIM:601675 |
Cockayne Syndrome |
|
Hepatomegaly, Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilate... |
ORPHA:191 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Microphthalmia, Phthisis bulbi |
OMIM:221900 |
Charge Syndrome |
|
Anophthalmia, Overriding aorta, Ventricular septal defect, Renal agenesis, Secundum atrial septal... |
OMIM:214800 |
Frontonasal Dysplasia 2 |
|
Microphthalmia |
OMIM:613451 |
Juvenile Polyposis Syndrome |
|
Hypoproteinemia |
ORPHA:2929 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Microphthalmia |
OMIM:613150 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Hepatomegaly, Ventricular hypertrophy, Cardiomegaly |
OMIM:618278 |
Cockayne Syndrome B |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Hypoplasia of the iris, Microphthal... |
OMIM:133540 |
Basal Cell Nevus Syndrome 1 |
|
Microphthalmia, Cardiac fibroma, Cardiac rhabdomyoma |
OMIM:109400 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... |
OMIM:300967 |
Mend Syndrome |
|
Microphthalmia, Aortic valve stenosis, Abnormal heart morphology |
ORPHA:401973 |
Microcephaly-Micromelia Syndrome |
|
Microphthalmia |
OMIM:251230 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
Frontorhiny |
|
Microphthalmia |
ORPHA:391474 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Cardiomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hypertrophic cardio... |
ORPHA:365 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Hypospadias, Optic nerve hypoplasia, Unilateral renal agenesis, Bilateral microphthalmos, Microph... |
ORPHA:468631 |
8Q24.3 Microdeletion Syndrome |
|
Truncus arteriosus, Optic nerve hypoplasia, Ventricular septal defect, Unilateral renal agenesis,... |
ORPHA:508488 |
Dubowitz Syndrome |
|
Hypoplasia of the iris, Microphthalmia, Hypospadias |
OMIM:223370 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia |
OMIM:618727 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614643 |
Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia |
OMIM:610651 |
Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia |
OMIM:278730 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
Holoprosencephaly 1 |
|
Microphthalmia, Micropenis, Single ventricle |
OMIM:236100 |
Premature Aging Syndrome, Penttinen Type |
|
Microphthalmia |
OMIM:601812 |
Oculoauricular Syndrome |
|
Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia |
OMIM:612109 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia |
OMIM:110100 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, True anophthalmia, Horseshoe kidney |
ORPHA:1106 |
Abetalipoproteinemia |
|
Hepatomegaly, Cardiomegaly |
ORPHA:14 |
Myhre Syndrome |
|
Ventricular septal defect, Pericardial effusion, Atrial septal defect, Microphthalmia, Aortic val... |
OMIM:139210 |
Hydrolethalus Syndrome 1 |
|
Ventricular septal defect, Hypospadias, Complete atrioventricular canal defect, Microphthalmia, H... |
OMIM:236680 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Atrial septal defect, Microphthalmia, Anophthalmia |
ORPHA:2526 |
Holoprosencephaly 9 |
|
Microphthalmia, Micropenis, Anophthalmia, Optic nerve hypoplasia |
OMIM:610829 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Phthisis bulbi, Ventricular septal defect |
OMIM:259770 |
Fontaine Progeroid Syndrome |
|
Atrial septal defect, Bicuspid aortic valve, Abnormal heart morphology, Left ventricular hypertro... |
OMIM:612289 |
Fraser Syndrome 1 |
|
Anophthalmia, Hypospadias, Renal hypoplasia/aplasia, Bilateral microphthalmos, Renal hypoplasia, ... |
OMIM:219000 |
Roberts Syndrome |
|
Microphthalmia, Long penis, Polycystic kidney dysplasia |
ORPHA:3103 |
Hallermann-Streiff Syndrome |
|
Microphthalmia |
OMIM:234100 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Atrial septal defect, Microphthalmia, Patent foramen ovale, Right ventricular hypertrophy |
OMIM:620186 |
Momo Syndrome |
|
Bilateral microphthalmos |
ORPHA:2563 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Stage 5 ... |
OMIM:309000 |
Tetraamelia Syndrome 1 |
|
Microphthalmia, Renal agenesis, Urethral atresia |
OMIM:273395 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Microphthalmia |
ORPHA:85167 |
Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia, Micropenis, Hypospadias |
OMIM:603457 |
Monosomy 9P |
|
Microphthalmia, Ureteropelvic junction obstruction, Hypospadias |
ORPHA:261112 |
Trichothiodystrophy |
|
Cardiomyopathy, Bilateral microphthalmos, Ventricular septal defect |
ORPHA:33364 |
Aicardi-Goutières Syndrome |
|
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Micropenis, Cardiomegaly |
ORPHA:51 |
Fraser Syndrome |
|
Hypoplasia of penis, Anophthalmia, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia, U... |
ORPHA:2052 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia |
ORPHA:364577 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia |
ORPHA:1236 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Microphthalmia, Ventricular septal defect, Ventricular septal hypertrophy |
OMIM:608670 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
Incontinentia Pigmenti |
|
Microphthalmia |
ORPHA:464 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:308300 |
Curry-Jones Syndrome |
|
Microphthalmia |
OMIM:601707 |
Treacher-Collins Syndrome |
|
Microphthalmia, Hypoplasia of penis |
ORPHA:861 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Microphthalmia, Hypospadias, Ureterocele |
OMIM:616734 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Microphthalmia, Homocystinuria |
OMIM:601552 |
Pallister-Hall Syndrome |
|
Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Ectopic kidney, Micropenis, Bi... |
ORPHA:672 |
Mowat-Wilson Syndrome |
|
Ventricular septal defect, Hypospadias, Abnormality of the kidney, Abnormal heart morphology, Pul... |
OMIM:235730 |
Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
Oculo-Palato-Cerebral Syndrome |
|
Microphthalmia |
ORPHA:2714 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Muscular ventricular septal defect, Perimembranous ventricular septal defe... |
OMIM:612474 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Microphthalmia, Tetralogy of Fallot |
ORPHA:306542 |
Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Renal agenesis, Transposition of the great arteries, Microphthalmia, P... |
OMIM:256520 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Anophthalmia, Horseshoe kidney, Aniridia, Microphthalmia, Bifid ureter, Hyd... |
OMIM:305600 |
Linear Nevus Sebaceus Syndrome |
|
Microphthalmia |
ORPHA:2612 |
Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia |
OMIM:201180 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Hyperphosphaturia, Cardiomegaly, Pericardial effusion, Myocardial calcif... |
ORPHA:51608 |
Rothmund-Thomson Syndrome, Type 2 |
|
Microphthalmia |
OMIM:268400 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Multicystic kidney dysplasia, Bicuspid aortic valve, Abnormal pulmonary valve morphology, Urinary... |
ORPHA:261537 |
Hallermann-Streiff Syndrome |
|
Microphthalmia |
ORPHA:2108 |
Mowat-Wilson Syndrome |
|
Multicystic kidney dysplasia, Bicuspid aortic valve, Urinary incontinence, Webbed penis, Hypospad... |
ORPHA:2152 |
Aicardi Syndrome |
|
Microphthalmia |
ORPHA:50 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Multicystic kidney dysplasia, Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonar... |
ORPHA:261552 |
Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Anophthalmia, Ventricular septal defect, Renal agenesis, Ectopic ki... |
OMIM:164210 |
Treacher Collins Syndrome 1 |
|
Bilateral microphthalmos, Abnormal heart morphology |
OMIM:154500 |
Kenny-Caffey Syndrome, Type 2 |
|
Microphthalmia |
OMIM:127000 |
Holoprosencephaly 7 |
|
Microphthalmia, Bilateral microphthalmos |
OMIM:610828 |
Aicardi Syndrome |
|
Microphthalmia |
OMIM:304050 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:256040 |
Roberts-Sc Phocomelia Syndrome |
|
Ventricular septal defect, Hypospadias, Long penis, Horseshoe kidney, Polycystic kidney dysplasia... |
OMIM:268300 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Microphthalmia, Lens coloboma, Patent foramen ovale |
OMIM:619539 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Buphthalmos, Microphthalmia, Hypoplasia of the retina |
OMIM:253280 |
Microphthalmia, Syndromic 6 |
|
Microphthalmia, Anophthalmia, Renal hypoplasia |
OMIM:607932 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Bicuspid aortic valve, Hypospadias, Hydroureter, Renal hypoplasia/aplasia, Renal hy... |
OMIM:309800 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Renal agenesis, Hypospadias, Renal cyst, Microphthalmia |
OMIM:113620 |
Witteveen-Kolk Syndrome |
|
Hypospadias, Phimosis, Male urethral meatus stenosis, Microphallus, Microphthalmia |
OMIM:613406 |
Monosomy 13Q14 |
|
Microphthalmia |
ORPHA:1587 |
Frontofacionasal Dysplasia |
|
Microphthalmia |
OMIM:229400 |
Holoprosencephaly 2 |
|
Microphthalmia, Single ventricle |
OMIM:157170 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... |
OMIM:182250 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Bilateral microphthalmos |
ORPHA:93325 |
Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens |
ORPHA:649 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:175780 |