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Gene: Col4a2 MGI:88455

Gene Summary

Name:

collagen, type IV, alpha 2

Synonyms:

Col4a-2

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
decreased circulating serum albumin level	Col4a2^{em1(IMPC)Wtsi}	HET	Early adult	1.19×10^-06
decreased circulating total protein level	Col4a2^{em1(IMPC)Wtsi}	HET	Early adult	4.36×10^-06
preweaning lethality, complete penetrance	Col4a2^{em1(IMPC)Wtsi}	HOM	Early adult	0.00
decreased circulating fructosamine level	Col4a2^{em1(IMPC)Wtsi}	HET	Early adult	1.93×10^-06

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Viewing: all phenotypes

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.

Legacy Phenotype Associated Images

Col4a2^{em1(IMPC)Wtsi}
HOM, Male, WTSI

Col4a2^{em1(IMPC)Wtsi}
FAIL, Male, WTSI

Col4a2^{em1(IMPC)Wtsi}
foot digit 1, foot phalanx, foot digit 1 phalanx, foot, abnormal digit morphology, HET, Male, WTSI

Human diseases caused by Col4a2 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 Col4a2 (1 diseases)
Human diseases predicted to be associated with Col4a2 (808 diseases)

The table below shows human diseases associated to Col4a2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Brain Small Vessel Disease 2		Intracranial hemorrhage	OMIM:614483

The table below shows human diseases predicted to be associated to Col4a2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante...	OMIM:269400
Ectopia Lentis 2, Isolated, Autosomal Recessive	Ectopia lentis	OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant	Ectopia lentis	OMIM:129600
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Cataract 29	Cataract	OMIM:115800
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Enterokinase Deficiency	Hypoproteinemia	OMIM:226200
Cornea Guttata With Anterior Polar Cataracts	Anterior polar cataract	OMIM:121390
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts	Progressive cataract	OMIM:120040
Cataract 24	Anterior polar cataract	OMIM:601202
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Ectopia lentis, Deep anterior chamber, Microspherophakia, Buphthalmos, Glaucoma, Me...	OMIM:251750
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Cataract 39, Multiple Types	Lamellar cataract, Anterior polar cataract, Developmental cataract	OMIM:615188
Microphthalmia, Isolated, With Cataract 1	Microphthalmia, Cataract	OMIM:156850
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Corneal scarring, Buphthalmos, Glaucoma, Microphthalmia, Iris coloboma	OMIM:212550
Cataract 32, Multiple Types	Anterior polar cataract	OMIM:115650
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	Cataract	ORPHA:73245
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Phthisis bulbi, Hyphema, Leukocoria, Buphthalmos, Microcornea, Shallow...	OMIM:221900
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract, Fava bean-induced hemolytic anemia	OMIM:618660
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Glaucoma 3, Primary Congenital, A	Buphthalmos, Late onset congenital glaucoma	OMIM:231300
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract, Chorioretinal coloboma	OMIM:274205
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Glaucoma, Microphthalmia, Ir...	OMIM:604219
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, Cataract	OMIM:619813
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Angle closure glaucoma, Developmental cata...	ORPHA:91495
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract	OMIM:300719
Nathalie Syndrome	Cataract	ORPHA:2663
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Thanatophoric Dysplasia, Glasgow Variant	Cataract, Anemia, Hepatosplenomegaly	OMIM:273680
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Sudden cardiac death, Juvenile cataract, Arrhythmia	OMIM:212500
Trichomegaly	Cataract	OMIM:190330
Cataract 12, Multiple Types	Progressive cataract, Developmental cataract	OMIM:611597
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia, Cataract, Iris coloboma	OMIM:610092
Microphthalmia, Isolated, With Coloboma 4	Microcornea, Microphthalmia	OMIM:251505
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract	ORPHA:79281
Corneal Dystrophy, Congenital Stromal	Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy	OMIM:610048
Cataract 11, Multiple Types	Microphthalmia, Cataract, Developmental cataract	OMIM:610623
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth...	OMIM:217300
Cataract 6, Multiple Types	Posterior polar cataract, Developmental cataract	OMIM:116600
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia	ORPHA:88643
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Hypoproteinemia	OMIM:207731
Diarrhea 13	Hypoalbuminemia	OMIM:620357
Cataract 30, Multiple Types	Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract	OMIM:116300
Galactosemia Iv	Cataract	OMIM:618881
Tetralogy Of Fallot And Glaucoma	Developmental glaucoma	OMIM:187501
Glaucoma 3, Primary Infantile, B	Primary congenital glaucoma	OMIM:600975
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Cataract 16, Multiple Types	Posterior polar cataract, Lenticonus, Developmental cataract	OMIM:613763
Insulinomatosis And Diabetes Mellitus	Developmental glaucoma, Developmental cataract	OMIM:147630
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Immunodeficiency 43	Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia	OMIM:241600
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Microphthalmia, Corneal opacity	ORPHA:2432
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia	OMIM:613752
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho...	OMIM:619868
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia, Glaucoma, Cataract	OMIM:616538
Analbuminemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat...	OMIM:616000
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Galactosemia Ii	Cataract	OMIM:230200
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Chorea, Remitting, With Nystagmus And Cataract	Cataract	OMIM:601372
Microphthalmia, Isolated, With Coloboma 10	Microcoria, Microphthalmia, Anophthalmia, Iris coloboma	OMIM:616428
Microphthalmia, Isolated 2	Microphthalmia, Opacification of the corneal stroma	OMIM:610093
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia	OMIM:152800
Fanconi Anemia, Complementation Group G	Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia	OMIM:614082
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Cataract	OMIM:618463
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi...	OMIM:263300
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Foveal Hypoplasia 2	Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon	OMIM:609218
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Buphthalmos, Cataract	ORPHA:370997
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Pancreatic insufficiency, combined exocrine	Hypoproteinemia	OMIM:260450
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Keratoconus 9	Keratoconus, Decreased corneal thickness	OMIM:617928
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Hypoproteinemia	ORPHA:1116
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Buphthalmos, Glaucoma, Persistent pupillary membrane, Peters anomaly, Microphthalmia	OMIM:613150
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia, Iris coloboma	OMIM:614497
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Chylomicron Retention Disease	Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia	OMIM:246700
Peroxisome Biogenesis Disorder 2B	Polar cataract	OMIM:202370
Autosomal Recessive Spastic Paraplegia Type 25	Developmental glaucoma, Developmental cataract	ORPHA:101005
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ...	OMIM:604229
Keratoconus 1	Keratoconus, Astigmatism	OMIM:148300
Iris Pigment Layer, Cleavage Of	Cataract	OMIM:147610
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Nephrotic Syndrome, Type 7	Hypoalbuminemia	OMIM:615008
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Microcephaly-Microcornea Syndrome, Seemanova Type	Microcornea, Microphthalmia, Cataract	ORPHA:2528
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Leber Congenital Amaurosis 7	Keratoconus, Cataract	OMIM:613829
Ring Dermoid Of Cornea	Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con...	OMIM:180550
Charcot-Marie-Tooth Disease Type 4B2	Buphthalmos, Developmental glaucoma, Cataract, Glaucoma	ORPHA:99956
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Glaucoma, Microphthalmia	OMIM:251700
Khan-Khan-Katsanis Syndrome	Tricuspid regurgitation, Peters anomaly, Corneal scarring, Buphthalmos, Glaucoma, Neutropenia, Ly...	OMIM:618460
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Cataract, Iris coloboma	OMIM:120433
Congenital Varicella Syndrome	Microphthalmia, Cataract	ORPHA:291
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Nathalie Syndrome	Cataract	OMIM:255990
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Triokinase And Fmn Cyclase Deficiency Syndrome	Cataract, Reduced systolic function, Microcytic anemia, Dilated cardiomyopathy, Microphthalmia	OMIM:618805
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Iris coloboma, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Buphthalmos, Glaucoma, Neutropenia	OMIM:618005
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Brittle Cornea Syndrome 2	Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor...	OMIM:614170
Blepharoptosis, Myopia, And Ectopia Lentis	Increased axial length of the globe, Ectopia lentis	OMIM:110150
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia	ORPHA:2494
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Microphthalmia, Isolated 1	Glaucoma, Microphthalmia, Anophthalmia	OMIM:251600
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract	ORPHA:1380
Refractory Celiac Disease	Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m...	ORPHA:2334
Gombo Syndrome	Microphthalmia	OMIM:233270
Alport Syndrome 3A, Autosomal Dominant	Anterior polar cataract, Lenticonus	OMIM:104200
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Corneal opacity, Glaucoma, Microphthalmia, Posterior embryotoxon, Iris coloboma	ORPHA:1473
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia, Cataract	OMIM:278780
Erythrocytosis, Familial, 1	Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Increased hemoglobin, Increased red blo...	OMIM:133100
Leber Congenital Amaurosis 6	Keratoconus, Cataract	OMIM:613826
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Corneal opacity, Optic nerve hypoplasia, Buphthalmos, Glaucoma, Peters anomaly, Microph...	OMIM:236670
Microphthalmia, Isolated 6	Microcornea, Microphthalmia	OMIM:613517
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly	OMIM:610023
Nanophthalmos	Glaucoma, Microphthalmia	ORPHA:35612
Keratoconus 6	Keratoconus	OMIM:614623
Keratoconus 5	Keratoconus	OMIM:614622
Keratoconus 8	Keratoconus	OMIM:614628
Keratoconus 7	Keratoconus	OMIM:614629
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Cataract 47	Microcornea, Cataract	OMIM:612018
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Nanophthalmos 4	Microphthalmia, Angle closure glaucoma	OMIM:615972
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Congenital Rubella Syndrome	Cataract, Corneal opacity, Thrombocytopenia, Splenomegaly, Aplasia/Hypoplasia of the iris, Glauco...	ORPHA:290
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Buphthalmos, Rieger anomaly, Primary congenital glaucoma	ORPHA:521445
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Portal hypertension, Splenomegaly, Developmental glaucoma, Buphthalmos, Splenic cyst	OMIM:610199
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia, Sclerocornea	OMIM:611038
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Aniridia, Developmental glaucoma	OMIM:206750
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Conge...	ORPHA:83461
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoproteinemia, Hypoalbuminemia	OMIM:226300
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Glaucoma, Microphthalmia, Shallow anterior chamber	OMIM:267760
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Anterior polar cataract	OMIM:250420
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia...	OMIM:603553
Retinitis Pigmentosa 74	Posterior polar cataract	OMIM:616562
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	ORPHA:90362
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Microphthalmia, Syndromic 13	Microcornea, Microphthalmia, Iris coloboma	OMIM:300915
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Ocular anterior segment dysgenesis, Developmental cataract	ORPHA:324416
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Cataract	OMIM:619082
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Dengue Fever	Hypoproteinemia	ORPHA:99828
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Brittle Cornea Syndrome 1	Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness	OMIM:229200
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Congenital Disorder Of Glycosylation, Type Ij	Hypoproteinemia	OMIM:608093
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr...	OMIM:616050
2Q24 Microdeletion Syndrome	Microphthalmia, Cataract, Abnormality iris morphology	ORPHA:1617
Sturge-Weber Syndrome	Buphthalmos	OMIM:185300
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Cataract, Dilated cardiomyopathy, Ventricular ta...	OMIM:615184
Aniridia 2	Aniridia, Iris coloboma, Cataract, Lens subluxation	OMIM:617141
3-Methylglutaconic Aciduria Type 4	Cardiomyopathy, Cataract, Thrombocytopenia, Iris hypopigmentation	ORPHA:67048
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Coats Disease	Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology	ORPHA:190
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microcornea, Microphthalmia, Cataract	OMIM:616171
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Cerebral Amyloid Angiopathy, Itm2B-Related, 2	Posterior polar cataract	OMIM:117300
Alg6-Cdg	Hypoalbuminemia, Decreased LDL cholesterol concentration	ORPHA:79320
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Anterior polar cataract	OMIM:619575
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hypoplasia of the iris, Anterior polar cataract, Posterior embryotoxon	OMIM:619194
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Ectopia lentis	ORPHA:1068
Galloway-Mowat Syndrome 6	Hypoalbuminemia	OMIM:618347
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ...	ORPHA:26793
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Mend Syndrome	Aortic valve stenosis, Anterior polar cataract, Macular hypoplasia, Cataract	OMIM:300960
Microphthalmia, Isolated 5	Microphthalmia, Cataract	OMIM:611040
Frank-Ter Haar Syndrome	Buphthalmos, Megalocornea, Developmental glaucoma, Abnormally large globe	OMIM:249420
Oculocerebrorenal Syndrome Of Lowe	Cataract, Corneal opacity, Abnormal pupil morphology, Buphthalmos, Glaucoma, Anemia, Lentiglobus,...	ORPHA:534
Leber Congenital Amaurosis 2	Keratoconus, Cataract	OMIM:204100
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Dermatitis, Atopic	Keratoconus, Cataract, Conjunctivitis	OMIM:603165
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran...	OMIM:136800
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Pellagra-Like Syndrome	Cataract	OMIM:260650
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Buphthalmos, Glaucoma, Hypoplasia of the retina, Opacification of the corneal stroma, M...	OMIM:253280
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Isolated Aniridia	Cataract, Glaucoma, Peters anomaly, Aniridia, Aplasia/Hypoplasia of the macula	ORPHA:250923
Alg1-Cdg	Hypoalbuminemia	ORPHA:79327
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Myopia 28, Autosomal Recessive	Cataract	OMIM:619781
Erythrocytosis, Familial, 2	Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, H...	OMIM:263400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Abnormal left ventricular function, Microphthalmia, Cardiomyopathy, Developmental cataract	OMIM:613155
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Hypoalbuminemia	OMIM:619013
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microcornea, Microphthalmia, Posterior lenticonus, Iris coloboma	ORPHA:231736
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Cataract, Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy...	ORPHA:1345
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Cataract 1, Multiple Types	Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract	OMIM:116200
Vitreoretinochoroidopathy	Pulverulent cataract, Developmental cataract, Microcornea, Glaucoma, Vitreous hemorrhage, Retinal...	OMIM:193220
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Hy...	OMIM:242150
Cataract 10, Multiple Types	Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Leber Congenital Amaurosis 1	Keratoconus, Cataract	OMIM:204000
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Unilateral microphthalmos, Anemia	OMIM:615085
Leber Congenital Amaurosis	Keratoconus, Cataract	ORPHA:65
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Hypertrophic cardiomyopathy, Cataract, Corneal dystrophy	ORPHA:1369
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia	OMIM:614441
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Aniridia 3	Aniridia, Cataract	OMIM:617142
Primary Familial Polycythemia	Abnormal hemoglobin, Polycythemia, Epistaxis	ORPHA:90042
Leber Congenital Amaurosis 4	Keratoconus	OMIM:604393
Cofs Syndrome	Microphthalmia, Cataract	ORPHA:1466
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Cochleosaccular Degeneration-Cataract Syndrome	Cataract	ORPHA:3233
Johanson-Blizzard Syndrome	Hypoproteinemia	ORPHA:2315
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypoproteinemia, Hypocalcemia	OMIM:235255
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati...	ORPHA:247598
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Posterior polar cataract, Iron deficiency anemia, Intestinal bleeding, Optic disc hypoplasia	ORPHA:261584
Immunodeficiency 27A	Hypoalbuminemia	OMIM:209950
Hypogonadism-Cataract Syndrome	Cataract	OMIM:240950
Developmental Delay With Variable Neurologic And Brain Abnormalities	Glaucoma, Microphthalmia, Astigmatism, Cataract	OMIM:619694
Congenital Toxoplasmosis	Microphthalmia, Thrombocytopenia, Anemia	ORPHA:858
Hemochromatosis, Type 4	Cardiomyopathy, Arrhythmia, Cataract, Anemia	OMIM:606069
Hb Bart'S Hydrops Fetalis	Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia	ORPHA:163596
Omenn Syndrome	Hypoproteinemia	OMIM:603554
Nance-Horan Syndrome	Microcornea, Microphthalmia, Glaucoma, Cataract	ORPHA:627
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Leber Congenital Amaurosis 8	Keratoconus, Cataract	OMIM:613835
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Cataract	OMIM:601794
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia, Cataract	OMIM:251270
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Glaucoma, Microphthalmia	OMIM:614830
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Elevated circulating C-reactive protein concentration	OMIM:308240
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Buphthalmos, Keratoconjunctivitis sicca	OMIM:618479
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hypoproteinemia, Elevated circulating creatine kinase concentration	OMIM:615895
Aniridia And Absent Patella	Aniridia, Cataract	OMIM:106220
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Cataract	ORPHA:363741
Mpi-Cdg	Hypoalbuminemia	ORPHA:79319
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Corneal opacity, Corneal dystrophy, Optic nerve hypoplasia, Buphthalmos, Keratoconjunctivitis sicca	ORPHA:495875
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Aniridia, Developmental glaucoma, Corneal opacity	ORPHA:1064
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Eosinophilic Gastroenteritis	Hypoalbuminemia, Elevated circulating C-reactive protein concentration	ORPHA:2070
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microcornea, Microphthalmia, Cataract	ORPHA:48431
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati...	ORPHA:88618
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypoproteinemia, Hypocalcemia	ORPHA:1655
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe...	ORPHA:232
Braddock-Carey Syndrome 2	Microphthalmia, Thrombocytopenia	OMIM:619981
Keratoconus Posticus Circumscriptus	Keratoconus, Central posterior corneal opacity	OMIM:244600
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Leishmaniasis	Hypoalbuminemia	ORPHA:507
Congenital Disorder Of Glycosylation, Type Ih	Elevated circulating creatinine concentration, Hypoalbuminemia	OMIM:608104
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia	ORPHA:656
Macrophage Activation Syndrome	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir...	ORPHA:158061
Sengers Syndrome	Cataract, Cardiac arrest, Sudden cardiac death, Developmental cataract, Pulmonary arterial hypert...	OMIM:212350
Myh9-Related Disease	Spontaneous, recurrent epistaxis, Increased mean platelet volume, Myocardial infarction, Giant pl...	ORPHA:182050
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Hypertrophic cardiomyopathy, Thromb...	ORPHA:848
Immunodeficiency 32B	Hypoalbuminemia	OMIM:226990
Bangstad Syndrome	Pancytopenia, Abnormally large globe	OMIM:210740
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Cataract, Microcytic anemia	OMIM:612379
Microphthalmia, Syndromic 8	Microcornea, Microphthalmia	OMIM:601349
Retinitis Pigmentosa	Keratoconus, Cataract	ORPHA:791
Cataract 3, Multiple Types	Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract	OMIM:601547
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Cataract	OMIM:613730
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Warburg Micro Syndrome 1	Microcornea, Microphthalmia, Developmental cataract	OMIM:600118
Mmep Syndrome	Microphthalmia	ORPHA:3434
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Developmental glaucoma, Reti...	ORPHA:124
Lissencephaly 8	Microphthalmia, Cataract	OMIM:617255
Cat-Eye Syndrome	Microphthalmia, Iris coloboma	ORPHA:195
Congenital Fibrinogen Deficiency	Tachycardia, Splenic rupture, Developmental cataract, Microphthalmia, Internal hemorrhage	ORPHA:335
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Cataract, Optic nerve hypoplasia	OMIM:615181
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Cataract, Sclerocornea, Microcornea, Microphthalmia, Iris coloboma	ORPHA:139471
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block	Keratoconus, Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin	OMIM:609438
Macrophthalmia, Colobomatous, With Microcornea	Flat cornea, Increased axial length of the globe, Microcornea, Shallow anterior chamber, Iris col...	OMIM:602499
Liver Failure, Infantile, Transient	Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Acute Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529808
Vitreoretinal Degeneration, Snowflake Type	Cataract, Corneal guttata	OMIM:193230
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Reni Syndrome	Hypertriglyceridemia, Hypoalbuminemia	OMIM:617575
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Decreased corneal thickness, Microcytic anemia	ORPHA:293967
Tempi Syndrome	Intracranial hemorrhage, Increased hematocrit, Polycythemia, Telangiectasia	ORPHA:284227
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Brittle Cornea Syndrome	Corneal dystrophy, Corneal erosion, Corneal scarring, Keratoglobus, Decreased corneal thickness, ...	ORPHA:90354
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Proteus Syndrome	Central heterochromia, Cataract, Thymus hyperplasia, Sudden cardiac death, Pulmonary embolism, Sp...	ORPHA:744
Bartsocas-Papas Syndrome 2	Corneal opacity, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pterygium	OMIM:619339
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Keratoconus, Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, ...	ORPHA:542306
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia	OMIM:617021
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Cataract, Developmental cataract	OMIM:610756
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism, Microphthalmia	OMIM:152950
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia	OMIM:602579
Pierpont Syndrome	Microcornea, Microphthalmia	ORPHA:487825
Chédiak-Higashi Syndrome	Hyponatremia, Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia	ORPHA:167
Generalized Pustular Psoriasis	Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration	ORPHA:247353
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca, Microphthalmia	ORPHA:1806
Nance-Horan Syndrome	Developmental cataract, Microcornea, Glaucoma, Posterior Y-sutural cataract, Microphthalmia	OMIM:302350
Temtamy Syndrome	Aortic regurgitation, Ectopia lentis, Lens luxation, Microphthalmia, Iris coloboma	OMIM:218340
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia, Cataract	ORPHA:93267
Rodrigues Blindness	Microcornea, Microphthalmia, Sclerocornea	OMIM:268320
Avian Influenza	Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react...	ORPHA:454836
Wolcott-Rallison Syndrome	Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia	ORPHA:1667
Microphthalmia, Isolated, With Coloboma 9	Sclerocornea, Microcornea, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma	OMIM:615145
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia, Cataract, Corneal opacity	OMIM:613153
Peroxisome Biogenesis Disorder 11B	Cataract, Hepatosplenomegaly	OMIM:614885
Hepatoportal Sclerosis	Hypoalbuminemia, Hyperbilirubinemia	ORPHA:64743
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia	OMIM:617093
Weill-Marchesani Syndrome	Cataract, Ectopia lentis, Mitral regurgitation, Pulmonic stenosis, Aortic valve stenosis	ORPHA:3449
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega...	ORPHA:3202
Morning Glory Disc Anomaly	Optic disc coloboma, Cataract	ORPHA:35737
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia	ORPHA:540
Microphthalmia, Syndromic 5	Anophthalmia, Cataract, Optic nerve hypoplasia, Microcornea, Microphthalmia	OMIM:610125
Pierpont Syndrome	Microcornea, Microphthalmia	OMIM:602342
Arthrogryposis, Distal, Type 5	Keratoconus, Keratoglobus, Astigmatism	OMIM:108145
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Astigmatism	OMIM:619769
Temtamy Syndrome	Microphthalmia, Iris coloboma	ORPHA:1777
Trichothiodystrophy 3, Photosensitive	Cataract, Developmental cataract, Neutropenia, Microphthalmia, Lymphopenia	OMIM:616395
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia	ORPHA:367
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Myopia 27, Autosomal Dominant	Increased axial length of the globe	OMIM:618827
Cataract 20, Multiple Types	Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract	OMIM:116100
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Tricuspid regurgitation, Peters anomaly	OMIM:618652
Idiopathic Uveal Effusion Syndrome	Microphthalmia, Abnormal anterior eye segment morphology	ORPHA:209956
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Spondylo-Ocular Syndrome	Cataract, Microphthalmia, Aplasia/Hypoplasia of the lens, Iris hypopigmentation	ORPHA:85194
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Congenital Enterovirus Infection	Hypoalbuminemia, Hyperammonemia	ORPHA:292
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Corneal opacity, Angle closure glaucoma	ORPHA:2788
Lowry-Maclean Syndrome	Developmental glaucoma, Megalocornea, Corneal opacity	ORPHA:2409
Refsum Disease	Cataract, Heart block, Splenomegaly, Cardiomyopathy, Microphthalmia	ORPHA:773
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Frontofacionasal Dysplasia	Cataract, Brushfield spots, Microcornea, Limbal dermoid, Microphthalmia, Iris coloboma	ORPHA:1791
Acquired Methemoglobinemia	Tachycardia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia	ORPHA:464453
Oculoauricular Syndrome	Cataract, Sclerocornea, Phthisis bulbi, Developmental cataract, Microcornea, Iris cyst, Macular h...	OMIM:612109
Myopia 23, Autosomal Recessive	Increased axial length of the globe	OMIM:615431
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbilirubinemia	OMIM:251880
Cutis Laxa, Autosomal Recessive, Type Iiib	Glaucoma, Developmental glaucoma, Cataract	OMIM:614438
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Aplasia/Hypoplasia of the lens, Cataract	ORPHA:1381
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Abnormal circulating albumin concentration	ORPHA:86839
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Leukemia	OMIM:602501
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microcornea, Microphthalmia, Cataract, Iris transillumination defect	OMIM:617306
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Cataract, Vitreous hemorrhage, Retinal neovascularization, Microphthalmia	ORPHA:891
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Chromosome 17Q12 Duplication Syndrome	Glaucoma, Microphthalmia, Peters anomaly	OMIM:614526
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Cataract, Abnormally large globe	OMIM:615249
Otodental Syndrome	Cataract, Lens coloboma, Microcornea, Microphthalmia, Iris coloboma	ORPHA:2791
Juvenile Polyposis Syndrome	Hypokalemia, Hypoalbuminemia	OMIM:174900
Myopia, High, With Cataract And Vitreoretinal Degeneration	Cataract, Lens subluxation	OMIM:614292
Xeroderma Pigmentosum, Complementation Group D	Cataract, Keratitis, Telangiectasia, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, ...	OMIM:278730
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru...	OMIM:617156
Diamond-Blackfan Anemia 1	Macrocytic anemia, Tricuspid stenosis, Congenital hypoplastic anemia, Congestive heart failure, P...	OMIM:105650
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypernatremia, Hypoalbuminemia	OMIM:615508
Frontonasal Dysplasia 1	Microphthalmia, Cataract	OMIM:136760
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Cataract, Portal hypertension, Leukopenia, Pulmonary arterial hypert...	ORPHA:974
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia, Corneal opacity, Peters anomaly	OMIM:120200
Microtriplication 11Q24.1	Keratoconus	ORPHA:289522
Congenital Muscular Dystrophy With Cerebellar Involvement	Cataract, Optic nerve hypoplasia, Abnormality iris morphology, Cardiomyopathy, Microphthalmia, Me...	ORPHA:370959
Combined Oxidative Phosphorylation Deficiency 37	Hyperalaninemia, Hypoalbuminemia	OMIM:618329
Desbuquois Dysplasia 1	Developmental glaucoma	OMIM:251450
Seckel Syndrome 2	Microphthalmia, Heart murmur	OMIM:606744
Optic Atrophy-Intellectual Disability Syndrome	Keratoconus, Optic disc hypoplasia, Optic nerve hypoplasia	ORPHA:401777
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia	OMIM:617303
Saethre-Chotzen Syndrome	Buphthalmos	OMIM:101400
Isolated Ectopia Lentis	Hypertension, Ectopia pupillae, Cataract, Ectopia lentis	ORPHA:1885
Pelvis-Shoulder Dysplasia	Microphthalmia, Iris coloboma, Opacification of the corneal stroma	OMIM:169550
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:619055
Atelis Syndrome 2	Developmental cataract, Anemia, Supravalvar pulmonary stenosis, Vitreous hemorrhage, Pulmonic ste...	OMIM:620185
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Pulmonary arterial hypertension	OMIM:300887
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Decreased serum iron, Decreased serum zinc, Hypoalbuminemia, Decreased circulating carnitine conc...	ORPHA:89842
Wolfram Syndrome 1	Sideroblastic anemia, Cataract, Megaloblastic anemia, Cardiomyopathy, Thrombocytopenia	OMIM:222300
Bacterial Toxic-Shock Syndrome	Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin...	ORPHA:36234
Fanconi Anemia, Complementation Group R	Microphthalmia, Anemia	OMIM:617244
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia, Shallow anterior chamber, Retinal neovascularization	OMIM:305390
Oculofaciocardiodental Syndrome	Cataract, Ectopia lentis, Microcornea, Glaucoma, Microphthalmia, Iris coloboma	ORPHA:2712
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Stromme Syndrome	Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peters anomaly, Mi...	OMIM:243605
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Blindness-Scoliosis-Arachnodactyly Syndrome	Cataract, Lens subluxation, Microphakia	ORPHA:171844
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Cataract, Sclerocornea, Microcornea, Ectopia pupillae, Microphthalmia	OMIM:615877
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Mitral regurgitation, Increased mean corpuscular volume, Macrocytic ...	OMIM:612561
Fanconi Anemia, Complementation Group S	Microphthalmia, Anemia	OMIM:617883
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia	OMIM:164180
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Glaucoma, Microphthalmia	OMIM:123570
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Sclerocornea, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardi...	OMIM:300952
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia	OMIM:619487
Warburg Micro Syndrome 4	Microcornea, Microphthalmia, Glaucoma, Developmental cataract	OMIM:615663
Liver Disease, Severe Congenital	Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti...	OMIM:619991
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Corneal opacity, Bilateral microphthalmos, Microphthalmia, Conjunctival hyperemia	ORPHA:2399
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, High-ou...	ORPHA:231222
Warburg Micro Syndrome 3	Cataract, Developmental cataract, Microcornea, Shallow anterior chamber, Microphthalmia	OMIM:614222
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia	ORPHA:67
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Hypocholesterolemia	OMIM:212065
Leber Congenital Amaurosis 9	Keratoconus	OMIM:608553
Pierson Syndrome	Hypoproteinemia	OMIM:609049
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia, Cataract	OMIM:614105
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypoalbuminemia...	ORPHA:14
Al Amyloidosis	Increased circulating NT-proBNP concentration, Hypoalbuminemia	ORPHA:85443
Adams-Oliver Syndrome 2	Microphthalmia, Developmental cataract	OMIM:614219
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia, Cataract	OMIM:214150
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased prealb...	ORPHA:37042
Oculopalatocerebral Syndrome	Microphthalmia, Leukocoria	OMIM:257910
Primary Biliary Cholangitis	Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia	ORPHA:186
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,...	OMIM:601552
Trisomy 13	Anophthalmia, Cataract, Aplasia/Hypoplasia of the iris, Microphthalmia, Iris coloboma	ORPHA:3378
Alg12-Cdg	Hyponatremia, Hypoalbuminemia, Hypocholesterolemia	ORPHA:79324
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia, Iris coloboma, Sclerocornea	ORPHA:77298
Xfe Progeroid Syndrome	Hypoalbuminemia	OMIM:610965
Walker-Warburg Syndrome	Anophthalmia, Corneal opacity, Cataract, Microcornea, Glaucoma, Microphthalmia, Iris coloboma	ORPHA:899
Hemophagocytic Syndrome Associated With An Infection	Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia	ORPHA:158048
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Corneal erosion, Cataract, Decreased proportion of class-switched memory B cells	OMIM:614878
Fanconi Anemia, Complementation Group E	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia	OMIM:600901
Gracile Bone Dysplasia	Aniridia, Microphthalmia, Hypoplastic spleen, Asplenia	OMIM:602361
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hypoalbuminemia	OMIM:235510
Bresek Syndrome	Microphthalmia, Iris coloboma, Optic nerve hypoplasia	ORPHA:85284
Alpha-Mannosidosis, Adult Form	Aortic regurgitation, Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly	ORPHA:309288
17Q12 Microduplication Syndrome	Glaucoma, Microphthalmia	ORPHA:261272
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Anemia, Developmental cataract	OMIM:127000
Gaisböck Syndrome	Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch...	ORPHA:90041
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Glaucoma, Ectopia pupillae, Astigmatism, Microphthalmia	OMIM:618727
Galloway-Mowat Syndrome 3	Hypoalbuminemia	OMIM:617729
Multiple Myeloma	Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia	ORPHA:29073
3Q29 Microduplication Syndrome	Cataract, Sclerocornea, Aniridia, Microphthalmia, Iris coloboma	ORPHA:251038
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Acute Radiation Syndrome	Cataract, Telangiectasia, Granulocytopenia, Hypotension, Lymphopenia, Thrombocytopenia	ORPHA:454831
Fanconi Anemia, Complementation Group I	Microphthalmia, Astigmatism, Optic nerve hypoplasia, Neutropenia	OMIM:609053
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Tricuspid regurgitation, Cataract, Congestive heart failure, Thromb...	ORPHA:508542
Wilson Disease	Decreased circulating ceruloplasmin concentration, Hypouricemia, Hypoalbuminemia, High noncerulop...	OMIM:277900
Microcephalic Primordial Dwarfism, Montreal Type	Abnormally large globe	OMIM:210700
Warburg Micro Syndrome 2	Microcornea, Microphthalmia, Cataract, Developmental cataract	OMIM:614225
Sandestig-Stefanova Syndrome	Microphthalmia, Developmental cataract	OMIM:618804
Meckel Syndrome, Type 8	Microphthalmia, Anophthalmia	OMIM:613885
Rere-Related Neurodevelopmental Syndrome	Microphthalmia, Astigmatism, Iris coloboma, Peters anomaly	ORPHA:494344
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia	OMIM:254900
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Corneal opacity, Atrial fibrillation...	ORPHA:137675
Fanconi Anemia, Complementation Group A	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia	OMIM:227650
Trichohepatoenteric Syndrome 1	Hypermethioninemia, Increased serum iron, Hypoalbuminemia, Abnormality of iron homeostasis	OMIM:222470
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia, Cataract	ORPHA:163649
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi...	OMIM:617052
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Secondary Intestinal Lymphangiectasia	Reduced circulating transferrin concentration, Decreased prealbumin level, Hypoalbuminemia, Hypoc...	ORPHA:90363
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Developmental glaucoma, Abnormally large globe	OMIM:245600
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma, Pulmonic stenosis	OMIM:618914
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cataract, Microcornea, Microphthalmia, Iris coloboma	ORPHA:3301
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Corneal opacity, Cerebral hemorrhage, Polycoria, Retinal hemorrhage, Developmen...	OMIM:175780
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Paternal Uniparental Disomy Of Chromosome 5	Abnormally large globe	ORPHA:96190
Galloway-Mowat Syndrome 1	Hypoalbuminemia	OMIM:251300
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Multiple Benign Circumferential Skin Creases On Limbs	Microcornea, Microphthalmia, Congestive heart failure	ORPHA:2505
Chromosome 3Q29 Duplication Syndrome	Abnormally large globe	OMIM:611936
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad...	ORPHA:231214
Aniridia-Absent Patella Syndrome	Aniridia, Cataract	ORPHA:1069
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Arrhythmia	ORPHA:3191
Insulin-Resistance Syndrome Type B	Abnormal circulating fatty-acid concentration, Abnormal circulating lipid concentration, Hypotrig...	ORPHA:2298
Nail-Patella Syndrome	Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign	OMIM:161200
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Conjunctival hyperemia	OMIM:167730
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Raynaud phenomenon, Developmental glaucoma, Chronic lymphat...	ORPHA:51
Baraitser-Winter Syndrome 1	Microphthalmia, Aortic valve stenosis, Iris coloboma	OMIM:243310
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Alagille Syndrome	Keratoconus, Telangiectasia of the skin, Corneal dystrophy, Abnormal pupil morphology, Hypertension	ORPHA:52
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
8Q21.11 Microdeletion Syndrome	Cataract, Corneal opacity, Sclerocornea, Microphthalmia, Iris hypopigmentation	ORPHA:284160
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcornea, Microphthalmia, Cataract, Pulmonary arterial hypertension	OMIM:616449
Oculocerebral Hypopigmentation Syndrome, Preus Type	Cataract, Abnormality of neutrophils, Ocular albinism, Hypochromic anemia, Iris hypopigmentation	ORPHA:2720
Oculo-Palato-Cerebral Syndrome	Glaucoma, Microphthalmia, Cataract, Leukocoria	ORPHA:2714
Curry-Jones Syndrome	Microphthalmia, Iris coloboma	ORPHA:1553
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia	ORPHA:505248
Martsolf Syndrome 1	Cataract, Cardiac arrest, Congestive heart failure, Developmental cataract, Cardiomyopathy, Micro...	OMIM:212720
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Microphthalmia, Lenz Type	Cataract, Microcornea, Glaucoma, Microphthalmia, Iris coloboma	ORPHA:568
Otopalatodigital Syndrome Type 2	Developmental glaucoma, Cataract	ORPHA:90652
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Astigmatism, Cataract	OMIM:618571
Alport Syndrome 2, Autosomal Recessive	Hypertension, Corneal erosion, Cataract, Anterior lenticonus	OMIM:203780
Bent Bone Dysplasia Syndrome 1	Hepatosplenomegaly, Abnormally large globe	OMIM:614592
Fanconi Anemia, Complementation Group C	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia	OMIM:227645
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Intellectual Developmental Disorder, Autosomal Recessive 71	Abnormally large globe	OMIM:618504
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Anemia, Cataract, Conjunctivitis, Corneal scarring	OMIM:226600
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia	ORPHA:79396
Costello Syndrome	Keratoconus, Hypertrophic cardiomyopathy, Pulmonic stenosis	ORPHA:3071
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Trichothiodystrophy 4, Nonphotosensitive	Microcornea, Microphthalmia, Keratoconjunctivitis sicca	OMIM:234050
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Hypertrophic cardiomyopathy	OMIM:619053
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Sclerocornea, Junctional ectopic tachycardia, Peters anomaly, Histiocytoid cardiomyopat...	OMIM:309801
Arterial Tortuosity Syndrome	Keratoconus, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart ...	ORPHA:3342
Incontinentia Pigmenti	Cataract, Corneal opacity, Telangiectasia of the skin, Eosinophilia, Keratitis, Congestive heart ...	ORPHA:464
Monosomy 18P	Microphthalmia, Hypertension	ORPHA:1598
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Cataract, Portal hypertension, Thrombocytopenia, Pulm...	OMIM:620005
Micro Syndrome	Microcornea, Microphthalmia, Cataract	ORPHA:2510
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Cataract, Splenomegaly, Nuclear cataract, Stomatocytosis	OMIM:608885
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Incontinentia Pigmenti	Hypoplasia of the fovea, Cataract, Eosinophilia, Keratitis, Leukocytosis, Retinal hemorrhage, Mic...	OMIM:308300
Kapur-Toriello Syndrome	Microphthalmia, Cataract, Iris coloboma	OMIM:244300
Arterial Tortuosity Syndrome	Keratoconus, Aortic regurgitation, Hypertension, Astigmatism, Ischemic stroke, Aortic valve steno...	OMIM:208050
Trichothiodystrophy 1, Photosensitive	Cataract, Telangiectasia, Microcornea, Keratoconjunctivitis sicca, Microphthalmia	OMIM:601675
X-Linked Dominant Chondrodysplasia Punctata	Microcornea, Microphthalmia, Cataract	ORPHA:35173
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Cataract, Optic nerve hypoplasia, Glaucoma, Peters anomaly, Microphthalmia	OMIM:614643
Fanconi Anemia, Complementation Group F	Anemia, Microphthalmia, Thrombocytopenia, Leukopenia	OMIM:603467
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Mitral regurgitation, Abnormally large globe	OMIM:603387
Lymphedema-Distichiasis Syndrome	Conjunctivitis, Recurrent corneal erosions, Microphthalmia, Arrhythmia, Corneal ulceration	OMIM:153400
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Frontorhiny	Microphthalmia, Cataract, Iris coloboma	ORPHA:391474
Kapur-Toriello Syndrome	Microphthalmia, Iris coloboma	ORPHA:2328
Nail-Patella Syndrome	Abnormal iris pigmentation, Antecubital pterygium, Primary congenital glaucoma, Open angle glauco...	ORPHA:2614
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia, Limbal dermoid, Sclerocornea	OMIM:613001
Oculodentodigital Dysplasia, Autosomal Recessive	Microcornea, Microphthalmia, Cataract, Persistent pupillary membrane	OMIM:257850
Warburg-Cinotti Syndrome	Corneal neovascularization, Limbal stem cell deficiency, Symblepharon, Decreased corneal thickness	OMIM:618175
Temtamy Preaxial Brachydactyly Syndrome	Abnormal lens morphology, Abnormally large globe	ORPHA:363417
3Q29 Microdeletion Syndrome	Microphthalmia, Cataract, Pulmonary arterial hypertension	ORPHA:65286
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Cataract	OMIM:610651
Juvenile Polyposis Of Infancy	Hypoalbuminemia	ORPHA:79076
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia, Abnormal spleen morphology	ORPHA:2470
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin...	ORPHA:99826
Juvenile Polyposis Syndrome	Hypoproteinemia	ORPHA:2929
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Aplasia/Hypoplasia of the optic nerve, HbH hemoglobin	ORPHA:423479
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ocular anterior segment dysgenesis, Bilateral microphthalmos	ORPHA:369891
Papillorenal Syndrome	Microphthalmia, Cataract, Hypertension, Lens luxation	OMIM:120330
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Glaucoma, Microphthalmia, Heteroch...	ORPHA:42775
Joubert Syndrome 37	Microphthalmia	OMIM:619185
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia	OMIM:613658
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia, Cataract, Dilated cardiomyopathy, Pulmonic stenosis	OMIM:253800
Lacrimoauriculodentodigital Syndrome	Increased corneal thickness, Keratoconjunctivitis, Keratoconjunctivitis sicca, Recurrent corneal ...	ORPHA:2363
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia, Cataract, Sclerocornea	OMIM:614230
Seckel Syndrome 1	Pancytopenia, Abnormally large globe	OMIM:210600
Chondrodysplasia Punctata 2, X-Linked Dominant	Glaucoma, Microphthalmia, Cataract	OMIM:302960
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia, Iris coloboma, Cataract	ORPHA:2250
Primary Sclerosing Cholangitis	Hypoalbuminemia	ORPHA:171
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Band keratopathy, Asplenia, Keratoconjunctivitis, Iron deficiency anemia	OMIM:269200
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Angelman Syndrome	Keratoconus, Astigmatism, Iris hypopigmentation	ORPHA:72
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia, Heart murmur	ORPHA:2728
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia	OMIM:618494
Phace Association	Microphthalmia, Optic nerve hypoplasia, Developmental cataract	OMIM:606519
Joubert Syndrome 14	Intracranial hemorrhage, Microphthalmia, Hypertension	OMIM:614424
Jacobsen Syndrome	Microcornea, Macular hypoplasia, Microphthalmia, Iris coloboma, Thrombocytopenia	OMIM:147791
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Smith-Lemli-Opitz Syndrome	Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hypocholesterolemia	OMIM:270400
Hydrolethalus	Microphthalmia, Anophthalmia	ORPHA:2189
Moebius Syndrome	Microphthalmia	OMIM:157900
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Ocular albinism	ORPHA:1352
Cockayne Syndrome Type 3	Cataract, Splenomegaly, Subdural hemorrhage, Retinal hemorrhage, Microcornea, Cardiomyopathy, Ker...	ORPHA:90324
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia, Ectopia pupillae, Corneal opacity, Lens subluxation	ORPHA:85167
Skin Creases, Congenital Symmetric Circumferential, 1	Microcornea, Microphthalmia	OMIM:156610
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Abnormally large globe	OMIM:300004
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t...	ORPHA:263479
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocornea, Microphthalmia	OMIM:206900
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy...	OMIM:260400
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Fanconi Anemia, Complementation Group D2	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia	OMIM:227646
Meckel Syndrome, Type 5	Microphthalmia	OMIM:611561
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Cataract, Corneal opacity, Glaucoma, Acute lymphoblastic leukemia, Micropht...	ORPHA:1052
Trichothiodystrophy	Bilateral microphthalmos, Increased mean corpuscular hemoglobin concentration, Developmental cata...	ORPHA:33364
Gapo Syndrome	Keratoconus	ORPHA:2067
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microcornea, Microphthalmia	OMIM:110100
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia	ORPHA:228390
Primrose Syndrome	Posterior polar cataract	OMIM:259050
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos, Anemia, Developmental cataract	ORPHA:93325
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcornea, Microphthalmia, Pulmonary arterial hypertension, Developmental cataract	ORPHA:464738
Meckel Syndrome	Accessory spleen, Anophthalmia, Cataract, Sclerocornea, Asplenia, Aplasia/Hypoplasia of the iris,...	ORPHA:564
Cohen Syndrome	Microphthalmia, Iris coloboma, Neutropenia	ORPHA:193
Rothmund-Thomson Syndrome, Type 2	Cataract, Telangiectasia, Microcornea, Glaucoma, Microphthalmia, Zonular cataract	OMIM:268400
Oculodentodigital Dysplasia	Cataract, Microcornea, Glaucoma, Microphthalmia, Arrhythmia	OMIM:164200
3P25.3 Microdeletion Syndrome	Microphthalmia, Pulmonic stenosis	ORPHA:435638
45,X/46,Xy Mixed Gonadal Dysgenesis	Prolonged QT interval, Developmental glaucoma, Tachycardia	ORPHA:1772
Lead Poisoning	Hypertension, Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology	ORPHA:330015
Thymoma	Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis	ORPHA:99867
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Glycogen Storage Disease Of Heart, Lethal Congenital	Cataract, Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevat...	OMIM:261740
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Keratoconus, Gastrointestinal hemorrhage, Congestive heart failure, Arterial rupture, Microcornea	OMIM:225400
Dubowitz Syndrome	Aplastic anemia, Hypoplasia of the iris, Acute lymphoblastic leukemia, Microphthalmia, Megalocorn...	OMIM:223370
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Polycythemia, Fingerpa...	OMIM:600376
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia	OMIM:617914
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Focal Dermal Hypoplasia	Corneal opacity, Telangiectasia of the skin, Ectopia lentis, Hypoplasia of the iris, Microphthalm...	ORPHA:2092
Mosaic Trisomy 9	Asplenia, Microphthalmia, Corneal opacity	ORPHA:99776
Hallermann-Streiff Syndrome	Cataract, Telangiectasia, Hypertension, Pulmonary arterial hypertension, Microphthalmia, Iris col...	OMIM:234100
1Q21.1 Microdeletion Syndrome	Microphthalmia, Cataract, Iris coloboma	ORPHA:250989
Immunodeficiency 82 With Systemic Inflammation	Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration	OMIM:619381
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia	OMIM:206920
Duane-Radial Ray Syndrome	Microphthalmia, Cataract, Optic disc hypoplasia, Iris coloboma	OMIM:607323
Trisomy 18	Cataract, Microcornea, Glaucoma, Microphthalmia, Iris coloboma	ORPHA:3380
Frontofacionasal Dysplasia	Microcornea, Microphthalmia, Cataract, Iris coloboma	OMIM:229400
Gapo Syndrome	Keratoconus, Shallow anterior chamber, Megalocornea	OMIM:230740
Roberts Syndrome	Glaucoma, Microphthalmia, Cataract, Thrombocytopenia	ORPHA:3103
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Meckel Syndrome, Type 2	Microphthalmia	OMIM:603194
Acro-Renal-Ocular Syndrome	Cataract, Optic disc hypoplasia, Microcornea, Microphthalmia, Iris coloboma	ORPHA:959
Marden-Walker Syndrome	Microphthalmia	OMIM:248700
Vacterl With Hydrocephalus	Microcornea, Microphthalmia, Anophthalmia	ORPHA:3412
Basal Cell Nevus Syndrome 1	Glaucoma, Microphthalmia, Cataract, Iris coloboma	OMIM:109400
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Pelvis-Shoulder Dysplasia	Microcornea, Bilateral microphthalmos, Iris coloboma	ORPHA:2839
Achondrogenesis, Type Ii	Abnormally large globe	OMIM:200610
Hallermann-Streiff Syndrome	Glaucoma, Microphthalmia, Congestive heart failure, Developmental cataract	ORPHA:2108
Cockayne Syndrome B	Splenomegaly, Developmental cataract, Hypoplasia of the iris, Microcornea, Hypertension, Opacific...	OMIM:133540
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Cataract, Aplasia/Hypoplasia of the iris, Leukopenia,...	ORPHA:84
Osteoporosis-Pseudoglioma Syndrome	Iris atrophy, Cataract, Phthisis bulbi, Absent anterior chamber of the eye, Microphthalmia	OMIM:259770
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Microphthalmia, Corneal opacity	OMIM:601812
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Abnormally large globe	OMIM:239300
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Polycythemia, High-out...	OMIM:187300
Mosaic Trisomy 1	Microphthalmia, Opacification of the corneal stroma	ORPHA:1692
Meckel Syndrome, Type 4	Microphthalmia	OMIM:611134
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Anophthalmia, Cataract, Glaucoma, Microphthalmia, Leukemia	ORPHA:2526
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Iris coloboma, Unilateral microphthalmos	OMIM:618874
Mandibuloacral Dysplasia	Abnormally large globe	ORPHA:2457
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia	OMIM:612530
Fryns Syndrome	Microphthalmia, Corneal opacity	ORPHA:2059
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Corneal opacity	ORPHA:364577
Tetraamelia Syndrome 1	Asplenia, Microphthalmia, Cataract	OMIM:273395
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Corneal opacity, Tricuspid regurgitation, Sclerocornea, Dilated cardiomyopathy, Gla...	ORPHA:2556
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Iris coloboma	ORPHA:1236
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia	OMIM:241410
Cat Eye Syndrome	Microphthalmia, Iris coloboma, Pulmonic stenosis	OMIM:115470
Marfan Syndrome	Aortic regurgitation, Cataract, Tricuspid regurgitation, Ectopia lentis, Congestive heart failure...	OMIM:154700
Marfan Syndrome	Flat cornea, Lens luxation, Ectopia lentis, Congestive heart failure, Increased axial length of t...	ORPHA:558
Craniometadiaphyseal Dysplasia	Abnormally large globe	OMIM:269300
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Optic nerve hypoplasia, Abnormally large globe	OMIM:300749
Chromosome 13Q33-Q34 Deletion Syndrome	Microphthalmia, Pulmonic stenosis	OMIM:619148
Cockayne Syndrome	Cataract, Band keratopathy, Splenomegaly, Retinal hemorrhage, Developmental cataract, Hypertensio...	ORPHA:191
Fanconi Anemia, Complementation Group L	Microphthalmia, Anemia	OMIM:614083
Linear Nevus Sebaceus Syndrome	Microphthalmia, Iris coloboma	ORPHA:2612
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Anemia	ORPHA:847
Ritscher-Schinzel Syndrome 3	Microphthalmia	OMIM:619135
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating...	OMIM:619534
Monosomy 13Q14	Microphthalmia, Cataract, Iris coloboma	ORPHA:1587
Curry-Jones Syndrome	Microphthalmia, Iris coloboma	OMIM:601707
Monosomy 9Q22.3	Microphthalmia, Cataract	ORPHA:77301
Leptospirosis	Hyperproteinemia	ORPHA:509
Acrofrontofacionasal Dysostosis 1	Microphthalmia, Iris atrophy	OMIM:201180
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Meckel Syndrome 14	Microphthalmia, Mitral regurgitation, Tricuspid regurgitation	OMIM:619879
Cousin Syndrome	Microcornea, Microphthalmia	OMIM:260660
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Hypertensive crisis, Cataract, Splenomegaly, Glaucoma, Hypoplasia of...	ORPHA:567
Holoprosencephaly	Anophthalmia, Abnormality of the spleen, Microphthalmia, Arrhythmia, Iris coloboma	ORPHA:2162
Treacher-Collins Syndrome	Microphthalmia, Cataract, Hypoplasia of the thymus, Iris coloboma	ORPHA:861
Steinfeld Syndrome	Microphthalmia, Iris coloboma	OMIM:184705
Mend Syndrome	Microphthalmia, Aortic valve stenosis, Cataract	ORPHA:401973
Mycophenolate Mofetil Embryopathy	Microphthalmia, Iris coloboma	ORPHA:268249
Proboscis Lateralis	Anophthalmia, Corneal opacity, Optic nerve hypoplasia, Cataract, Microcornea, Microphthalmia, Iri...	ORPHA:141099
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Norrie Disease	Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal...	ORPHA:649
Neuroocular Syndrome	Hypoplasia of the fovea, Cataract, Brushfield spots, Lens coloboma, Blue irides, Microcornea, Gla...	OMIM:619539
Ehlers-Danlos Syndrome, Vascular Type	Keratoconus, Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemorrhage, Arterial rupture, ...	OMIM:130050
2Q31.1 Microdeletion Syndrome	Microphthalmia, Iris coloboma	ORPHA:251014
Microphthalmia, Syndromic 2	Anophthalmia, Phthisis bulbi, Developmental cataract, Microcornea, Glaucoma, Pulmonic stenosis, M...	OMIM:300166
Frontonasal Dysplasia 2	Microphthalmia	OMIM:613451
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Cataract	OMIM:603457
Microphthalmia, Syndromic 9	Anophthalmia, Bilateral microphthalmos, Multilobulated spleen, Pulmonic stenosis, Hypoplastic spleen	OMIM:601186
Bartsocas-Papas Syndrome 1	Popliteal pterygium, Opacification of the corneal stroma, Microphthalmia, Pterygium, Corneal ulce...	OMIM:263650
Tropical Endomyocardial Fibrosis	Hypoalbuminemia	ORPHA:75565
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Momo Syndrome	Glaucoma, Bilateral microphthalmos	ORPHA:2563
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia, Cataract	ORPHA:306542
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aortic regurgitation, Microphthalmia, Iris coloboma, Optic nerve hypoplasia	ORPHA:508498
Joubert Syndrome 2	Microphthalmia	OMIM:608091
Degcags Syndrome	Pancytopenia, Tachycardia, Congenital hypoplastic anemia, Hepatosplenomegaly, Leukopenia, Iron de...	OMIM:619488
Pseudotrisomy 13 Syndrome	Microphthalmia	OMIM:264480
Teebi-Shaltout Syndrome	Microphthalmia, Aortic valve stenosis	OMIM:272950
Myhre Syndrome	Microphthalmia, Aortic valve stenosis, Cataract, Hypertension	OMIM:139210
Aicardi Syndrome	Microphthalmia, Cataract	OMIM:304050
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Yunis-Varon Syndrome	Cataract, Sclerocornea, Bilateral microphthalmos, Renovascular hypertension, Pulmonary arterial h...	ORPHA:3472
Fraser Syndrome 2	Microphthalmia, Hypoplasia of the thymus	OMIM:617666
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia, Aplasia of the thymus, Iris coloboma, Pulmonary arterial hypertension	OMIM:620186
Fryns Syndrome	Microphthalmia, Polysplenia, Opacification of the corneal stroma	OMIM:229850
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia, Peters anomaly	OMIM:616975
Lowe Oculocerebrorenal Syndrome	Corneal scarring, Developmental cataract, Glaucoma, Microphthalmia, Dense posterior cortical cata...	OMIM:309000
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Abnormality of the spleen, Anophthalmia	ORPHA:2538
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia, Iris coloboma	ORPHA:3186
Meckel Syndrome, Type 1	Accessory spleen, Asplenia, Splenomegaly, Microphthalmia, Iris coloboma	OMIM:249000
Okamoto Syndrome	Splenomegaly, Aortic valve stenosis, Astigmatism, Abnormally large globe	ORPHA:2729
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Corneal opacity	OMIM:608670
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia	OMIM:616300
Holoprosencephaly 7	Microphthalmia, Bilateral microphthalmos, Iris coloboma	OMIM:610828
Skin Creases, Congenital Symmetric Circumferential, 2	Microcornea, Microphthalmia	OMIM:616734
Pallister-Hall Syndrome	Microphthalmia	OMIM:146510
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Aortic regurgitation, Cataract, Sutural cataract, Nuclear pulverulent cataract, Microphthalmia	OMIM:612474
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Adams-Oliver Syndrome 1	Hypertension, Pulmonary arterial hypertension, Pulmonic stenosis, Microphthalmia, Aortic valve st...	OMIM:100300
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Popliteal pterygium, Microphthalmia, Antecubital pterygium	OMIM:609945
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Iris coloboma	OMIM:613884
Focal Dermal Hypoplasia	Anophthalmia, Ectopia lentis, Telangiectasia, Aniridia, Microphthalmia, Iris coloboma	OMIM:305600
Mowat-Wilson Syndrome	Cataract, Microcornea, Ectopia pupillae, Pulmonic stenosis, Microphthalmia, Iris coloboma	OMIM:235730
Renpenning Syndrome 1	Microphthalmia, Cataract	OMIM:309500
Charge Syndrome	Anophthalmia, Cataract, Unilateral microphthalmos, Pulmonic stenosis, Microphthalmia, Lymphopenia...	OMIM:214800
Keppen-Lubinsky Syndrome	Abnormally large globe	OMIM:614098
Holoprosencephaly 9	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610829
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia	ORPHA:2166
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia	OMIM:617925
Aicardi Syndrome	Microphthalmia	ORPHA:50
Keppen-Lubinsky Syndrome	Abnormally large globe	ORPHA:435628
Microphthalmia With Limb Anomalies	Microphthalmia, True anophthalmia	ORPHA:1106
Neu-Laxova Syndrome 1	Microphthalmia, Pterygium, Cataract	OMIM:256520
Hypermobile Ehlers-Danlos Syndrome	Keratoconus, Keratoconjunctivitis sicca, Arrhythmia	ORPHA:285
Charge Syndrome	Microphthalmia, Anophthalmia, Iris coloboma	ORPHA:138
Witteveen-Kolk Syndrome	Cataract, Anisocoria, Intracranial hemorrhage, Microphthalmia, Iris coloboma	OMIM:613406
Monosomy 9P	Microphthalmia	ORPHA:261112
Fontaine Progeroid Syndrome	Microphthalmia, Tricuspid regurgitation, Pulmonary arterial hypertension	OMIM:612289
Pmm2-Cdg	Reduced thyroxin-binding globulin, Hypoalbuminemia	ORPHA:79318
Bartter Syndrome, Type 2, Antenatal	Low-to-normal blood pressure, Abnormally large globe	OMIM:241200
Microphthalmia, Syndromic 6	Microcornea, Microphthalmia, Anophthalmia, Sclerocornea	OMIM:607932
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Optic nerve hypoplasia	ORPHA:468631
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Iris atrophy, Cataract, Asplenia, Abnormal pupil morphology, Hyphema, Microcornea, Ectopia pupill...	ORPHA:261552
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Cataract, Corneal opacity, Opacification of the corneal stroma, Microphthalmia	OMIM:268300
Vascular Ehlers-Danlos Syndrome	Keratoconus, Telangiectasia of the skin, Transient ischemic attack, Abnormal pupil morphology, Re...	ORPHA:286
Fraser Syndrome 1	Anophthalmia, Corneal opacity, Bilateral microphthalmos	OMIM:219000
Branchiooculofacial Syndrome	Microphthalmia, Anophthalmia, Iris coloboma, Cataract	OMIM:113620
Townes-Brocks Syndrome	Limbal dermoid, Microphthalmia, Cataract, Iris coloboma	ORPHA:857
Holoprosencephaly 2	Microphthalmia, Iris coloboma	OMIM:157170
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Cataract, Asplenia, Astigmatism, Axenfeld anomaly, Pulmonic stenosis, Microphthalmia, Aortic valv...	ORPHA:261537
Hydrolethalus Syndrome 1	Accessory spleen, Microphthalmia	OMIM:236680
Mowat-Wilson Syndrome	Cataract, Asplenia, Astigmatism, Axenfeld anomaly, Pulmonic stenosis, Microphthalmia, Aortic valv...	ORPHA:2152
Fraser Syndrome	Microphthalmia, Anophthalmia	ORPHA:2052
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Increased axial length of the globe	ORPHA:513456
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Bilateral microphthalmos, Optic nerve hypoplasia	ORPHA:508488
Microphthalmia, Syndromic 1	Anophthalmia, Microcornea, Ciliary body coloboma, Microphthalmia, Iris coloboma	OMIM:309800
Holoprosencephaly 1	Microphthalmia	OMIM:236100
Pallister-Hall Syndrome	Microphthalmia	ORPHA:672
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
Craniofacial Microsomia 1	Limbal dermoid, Microphthalmia, Anophthalmia	OMIM:164210
Brain Small Vessel Disease 2	Intracranial hemorrhage	OMIM:614483

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 Col4a2

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 Col4a2.

There are 5 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Detailed characterizations of cranial nerve anatomy in E14.5 mouse embryos/fetuses and their use as reference for diagnosing subtle, but potentially lethal malformations in mutants.	Frontiers in cell and developmental biology (November 2022)	Col4a2^{em1(IMPC)Wtsi}	PMC9682249
Hypoglossal Nerve Abnormalities as Biomarkers for Central Nervous System Defects in Mouse Lines Producing Embryonically Lethal Offspring.	Frontiers in neuroanatomy (January 2021)	Col4a2^{em1(IMPC)Wtsi}	PMC7876247
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Col4a2^{em1(IMPC)Wtsi}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Col4a2^{em1(IMPC)Wtsi}	PMC6671969
The Col4a2em1(IMPC)Wtsi mouse line: lessons from the Deciphering the Mechanisms of Developmental Disorders program.	Biology open (August 2019)	Col4a2^{em1(IMPC)Wtsi}	PMC6737985

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Col4a2^{em1(IMPC)Wtsi}	Deletion	Mice

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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