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Gene: Rtl5 MGI:3045324

Gene Summary

Name:

retrotransposon Gag like 5

Synonyms:

Mar5, 6430402L03Rik, Rgag4, Mart5

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
microphthalmia	Rtl5^em1(IMPC)Mbp	HEM	Early adult	0.00
increased circulating total protein level	Rtl5^em1(IMPC)Mbp	HOM	Early adult	2.63×10^-05
enlarged kidney	Rtl5^em1(IMPC)Mbp	HEM	Early adult	0.00
abnormal kidney morphology	Rtl5^em1(IMPC)Mbp	HEM	Early adult	0.00
abnormal eye morphology	Rtl5^em1(IMPC)Mbp	HEM	Early adult	0.00
abnormal heart morphology	Rtl5^em1(IMPC)Mbp	HEM	Early adult	0.00
enlarged heart	Rtl5^em1(IMPC)Mbp	HEM	Early adult	0.00

Download data as: TSV XLS

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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Human diseases caused by Rtl5 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Rtl5 (0 diseases)
Human diseases predicted to be associated with Rtl5 (575 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Rtl5 by phenotypic similarity.

Disease	Matching phenotypes	Source
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

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Rtl5

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Rtl5.

No publications found that use IMPC mice or data for Rtl5.

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MGI Allele	Allele Type	Produced
Rtl5^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Rtl5^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Rtl5^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Rtl5 MGI:3045324

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Rtl5 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data