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Gene: Top2a MGI:98790

Gene Summary

Name:

topoisomerase (DNA) II alpha

Synonyms:

Top-2, DNA Topoisomerase II alpha

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
prenatal lethality prior to heart atrial septation	Top2a^em2(IMPC)Tcp	HOM	E15.5	0.00
microphthalmia	Top2a^em2(IMPC)Tcp	HET	Late adult	0.00
abnormal kidney morphology	Top2a^em2(IMPC)Tcp	HET	Early adult	0.00
corneal opacity	Top2a^em2(IMPC)Tcp	HET	Late adult	8.94×10^-06
abnormal cornea morphology	Top2a^em2(IMPC)Tcp	HET	Late adult	9.78×10^-06
cataract	Top2a^em2(IMPC)Tcp	HET	Late adult	3.83×10^-05
abnormal seminal vesicle morphology	Top2a^em2(IMPC)Tcp	HET	Late adult	0.00
abnormal lens morphology	Top2a^em2(IMPC)Tcp	HET	Late adult	4.41×10^-07
increased mean corpuscular volume	Top2a^em2(IMPC)Tcp	HET	Early adult	8.43×10^-06
abnormal skin morphology	Top2a^em2(IMPC)Tcp	HET	Late adult	0.00
small spleen	Top2a^em2(IMPC)Tcp	HET	Late adult	0.00
abnormal liver morphology	Top2a^em2(IMPC)Tcp	HET	Late adult	0.00
embryonic lethality prior to organogenesis	Top2a^em2(IMPC)Tcp	HOM	E9.5	0.00
increased circulating alkaline phosphatase level	Top2a^em2(IMPC)Tcp	HET	Early adult	2.11×10^-14
preweaning lethality, complete penetrance	Top2a^em2(IMPC)Tcp	HOM	Early adult	0.00
small thymus	Top2a^em2(IMPC)Tcp	HET	Late adult	0.00
increased circulating aspartate transaminase level	Top2a^em2(IMPC)Tcp	HET	Early adult	2.55×10^-06
enlarged urinary bladder	Top2a^em2(IMPC)Tcp	HET	Late adult	0.00

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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.

Eye Morphology

Images Ophthalmoscopy

164 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

3 Images

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Eye Morphology

Images Slit Lamp

33 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Eye Morphology

Images Ophthalmoscopy

8 Images

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Histopathology

Images

17 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

9 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

6 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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Histopathology

Images

1 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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Human diseases caused by Top2a 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 Top2a (1 diseases)
Human diseases predicted to be associated with Top2a (800 diseases)

The table below shows human diseases associated to Top2a by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Neuroblastoma		Elevated urinary catecholamine level	ORPHA:635

The table below shows human diseases predicted to be associated to Top2a by phenotypic similarity.

Disease	Matching phenotypes	Source
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Pentosuria	Abnormal urine carbohydrate level, Abnormal circulating carbohydrate concentration, Abnormality o...	ORPHA:2843
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Muscle Cramps, Familial	Elevated circulating creatine kinase concentration	OMIM:158400
Cramps, Familial Adolescent	Elevated circulating creatine kinase concentration	OMIM:218050
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Microphthalmia, Corneal opacity, Hepatomegaly	ORPHA:2432
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Microphthalmia, Isolated, With Cataract 1	Microphthalmia, Cataract	OMIM:156850
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, Cataract, 3-Methylglutaconic aciduria	OMIM:619813
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Corneal opacity, Thrombocytopenia	ORPHA:1980
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Cataract	ORPHA:79281
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:1490
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Cataract 29	Cataract	OMIM:115800
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly...	ORPHA:90044
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Microphthalmia, Isolated, With Coloboma 4	Microcornea, Microphthalmia	OMIM:251505
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cryptorchidism, Cataract	OMIM:274205
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad...	ORPHA:3202
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma	OMIM:604219
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Cataract 11, Multiple Types	Microphthalmia, Cataract, Developmental cataract	OMIM:610623
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia, Cataract, Iris coloboma	OMIM:610092
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:3177
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	Cataract	ORPHA:73245
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Macular hypoplasi...	OMIM:610202
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Galactosemia Ii	Cataract, Galactosuria, Prolonged neonatal jaundice	OMIM:230200
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum...	ORPHA:98870
Galactosialidosis	Corneal opacity	ORPHA:351
Microphthalmia, Isolated 2	Microphthalmia, Opacification of the corneal stroma	OMIM:610093
Galactosemia Iv	Cataract, Prolonged neonatal jaundice	OMIM:618881
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concent...	OMIM:616860
Microcephaly-Microcornea Syndrome, Seemanova Type	Microcornea, Microphthalmia, Cataract, Hypogonadism	ORPHA:2528
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract	OMIM:300719
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Anemia, Hypochromic Microcytic, With Iron Overload 2	Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr...	OMIM:615234
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Corneal opacity, Hematuria, Microphthalmia, Posterior embryotoxon, Iris coloboma	ORPHA:1473
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration	ORPHA:206599
Foveal Hypoplasia 2	Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon	OMIM:609218
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth...	OMIM:217300
Nathalie Syndrome	Cataract	ORPHA:2663
Spastic Paraparesis And Deafness	Cataract, Hypogonadism	OMIM:312910
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract	ORPHA:2253
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum...	OMIM:185000
Peroxisome Biogenesis Disorder 10A (Zellweger)	Hepatomegaly, Cataract	OMIM:614882
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Hematuria, Increased mean c...	OMIM:617021
X-Linked Retinoschisis	Cataract	ORPHA:792
Morquio Syndrome C	Corneal opacity	OMIM:252300
Corneal Dystrophy, Epithelial Basement Membrane	Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions	OMIM:121820
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Hematuria, Microphthalmia, Cataract, Iris coloboma	OMIM:120433
Galactose Epimerase Deficiency	Hepatomegaly, Cataract, Splenomegaly, Jaundice, Aminoaciduria	ORPHA:79238
Thiel-Behnke Corneal Dystrophy	Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio...	ORPHA:98960
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Microcoria, Anophthalmia, Iris coloboma	OMIM:616428
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Trichomegaly	Cataract	OMIM:190330
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Cataract, Ectopic kidney, Cryptorchidism, Microphthalmia, Cystic renal dysplasia	OMIM:613730
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Corneal opacity, Lymphadenopathy	ORPHA:79292
Congenital Rubella Syndrome	Hepatomegaly, Cataract, Corneal opacity, Thrombocytopenia, Splenomegaly, Jaundice, Aplasia/Hypopl...	ORPHA:290
Ring Dermoid Of Cornea	Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con...	OMIM:180550
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop...	OMIM:604229
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Winchester Syndrome	Corneal opacity	OMIM:277950
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Thanatophoric Dysplasia, Glasgow Variant	Cataract, Anemia, Hepatosplenomegaly	OMIM:273680
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Congenital Varicella Syndrome	Microphthalmia, Cataract	ORPHA:291
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro...	ORPHA:2334
Macular Dystrophy, Corneal	Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions	OMIM:217800
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia, Iris coloboma	OMIM:614497
Spastic Paraparesis-Deafness Syndrome	Cataract, Hypogonadism	ORPHA:2815
Microphthalmia, Isolated 6	Microcornea, Microphthalmia	OMIM:613517
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Cataract	OMIM:618463
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Corneal opacity, Hypospadias, Cryptorchidism, Developmental cataract, Micropenis	OMIM:618815
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia, Cataract	OMIM:278780
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Hurler-Scheie Syndrome	Splenomegaly, Corneal opacity, Abnormality of the tonsils, Hepatomegaly	ORPHA:93476
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract, External genital hypoplasia, Cryptorchidism, Hypogonadism, Microphthalmia	ORPHA:363741
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Jaundice, Cataract, Elevated circulating aspartate aminotransferase concentration	OMIM:614876
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia, Sclerocornea	OMIM:611038
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Spinocerebellar Ataxia, Autosomal Recessive 24	Cataract	OMIM:617133
Congenital Primary Aphakia	Microphthalmia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye,...	ORPHA:83461
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Cataract, Microcytic anemia, Elevated circulating alanine aminotransferase concentr...	OMIM:618805
Keratitis, Hereditary	Keratitis, Opacification of the corneal stroma	OMIM:148190
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Methylmalonic aciduria, Hyperhom...	OMIM:277410
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Bilateral microphthalmos, Anophthalmia, Iris coloboma	OMIM:611638
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia	OMIM:617948
Bardet-Biedl Syndrome 18	Renal insufficiency, Cataract, Stage 5 chronic kidney disease	OMIM:615995
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract, Hypogonadism	OMIM:254000
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Nephrocalcinosis, Decreased m...	OMIM:611590
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Corneal Dystrophy And Perceptive Deafness	Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Corneal Dystrophy, Reis-Bucklers Type	Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma	OMIM:608470
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Cataract, Hypogonadism, Cryptorchidism	OMIM:601794
Xp22.3 Microdeletion Syndrome	Aplasia/Hypoplasia affecting the eye, Hypogonadotropic hypogonadism, Opacification of the corneal...	ORPHA:1643
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly	OMIM:610023
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen...	ORPHA:300298
Microphthalmia, Syndromic 13	Microcornea, Microphthalmia, Iris coloboma	OMIM:300915
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hemolytic-uremic syndrome, Hyperhomocystinemi...	ORPHA:2169
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia	OMIM:613839
Chorea, Remitting, With Nystagmus And Cataract	Cataract	OMIM:601372
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Sialidosis Type 2	Splenomegaly, Nephropathy, Corneal opacity, Hepatomegaly	ORPHA:87876
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Corneal opacity, Unilateral renal agenesis, Cryptorchidism, Acute leukemia, ...	ORPHA:281090
Galactose Mutarotase Deficiency	Hepatomegaly, Cataract, Decreased liver function, Cholestasis	ORPHA:570422
Cataract-Nephropathy-Encephalopathy Syndrome	Renal tubular dysfunction, Cataract	ORPHA:1380
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract, Fava bean-induced hemolytic anemia	OMIM:618660
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Hypospadias, Cryptorchidism	ORPHA:1381
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microcornea, Microphthalmia, Cataract	OMIM:616171
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti...	ORPHA:86839
Gómez-López-Hernández Syndrome	Corneal opacity	ORPHA:1532
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Cataract, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Micr...	OMIM:610125
2Q24 Microdeletion Syndrome	Microphthalmia, Cataract, Abnormality iris morphology	ORPHA:1617
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Hypogonadism, Cataract, Abnormality of the ovary, Decreased testicular size	ORPHA:1875
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Ocular anterior segment dysgenesis, Developmental cataract	ORPHA:324416
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Microphthalmia, Syndromic 8	Microcornea, Microphthalmia, Cryptorchidism	OMIM:601349
Cataract 47	Microcornea, Cataract, Glycosuria	OMIM:612018
Microphthalmia With Brain And Digit Anomalies	Cataract, Anophthalmia, Sclerocornea, Cryptorchidism, Microcornea, Microphthalmia, Iris coloboma	ORPHA:139471
Erythrokeratodermia Variabilis	Cataract, Corneal opacity, Abnormal testis morphology	ORPHA:317
Peroxisome Biogenesis Disorder 11B	Cataract, Hepatosplenomegaly	OMIM:614885
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Keratoendotheliitis Fugax Hereditaria	Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma	OMIM:148200
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Microphthalmia, Isolated 5	Microphthalmia, Cataract	OMIM:611040
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Corneal opacity	ORPHA:2370
Ichthyosis, X-Linked	Testicular neoplasm, Opacification of the corneal stroma, Cryptorchidism	OMIM:308100
Nathalie Syndrome	Cataract	OMIM:255990
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Hypogonadism-Cataract Syndrome	Male hypogonadism, Cataract, Hypogonadism, Elevated circulating follicle stimulating hormone level	OMIM:240950
Cofs Syndrome	Microphthalmia, Cataract, Hypogonadism	ORPHA:1466
Gombo Syndrome	Microphthalmia	OMIM:233270
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Iris Pigment Layer, Cleavage Of	Cataract	OMIM:147610
Alpha-Mannosidosis	Splenomegaly, Cataract, Corneal opacity, Hepatomegaly	ORPHA:61
Iron-Refractory Iron Deficiency Anemia	Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microcornea, Microphthalmia, Posterior lenticonus, Iris coloboma	ORPHA:231736
Immunodeficiency 96	Multicystic kidney dysplasia, Increased mean corpuscular volume, Increased proportion of gamma-de...	OMIM:619774
Warburg Micro Syndrome 1	External genital hypoplasia, Cryptorchidism, Developmental cataract, Microcornea, Microphthalmia	OMIM:600118
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Left ventricular hypertrophy, Microphthalmia, Cataract, Corneal opacity	OMIM:613153
Bartsocas-Papas Syndrome 2	Corneal opacity, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pterygium	OMIM:619339
Mucolipidosis Type Iii	Corneal opacity	ORPHA:577
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microcornea, Microphthalmia, Cataract, Hypogonadotropic hypogonadism	ORPHA:48431
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia, Shallow anterior chamber	OMIM:267760
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Cerebrooculofacioskeletal Syndrome 2	Cataract, Small scrotum, Developmental cataract, Microphthalmia, Micropenis	OMIM:610756
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Majeed Syndrome	Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:609628
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism, Microphthalmia	OMIM:152950
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Splenic rupture, Developmental cataract, Left ventricular hypertrophy, ...	ORPHA:335
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,...	ORPHA:98963
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Aminoaciduria, Cataract	ORPHA:2278
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De...	ORPHA:98974
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Micropenis, Cataract	OMIM:610156
Hereditary Bullous Dystrophy, Macular Type	Cataract, Corneal opacity, External genital hypoplasia, Cryptorchidism, Decreased testicular size	ORPHA:1867
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cryptorchidism, Cataract	ORPHA:2489
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat...	ORPHA:905
Laurence-Moon Syndrome	Hypoplasia of penis, Cataract, Renal insufficiency, Cryptorchidism, Congenital hepatic fibrosis, ...	ORPHA:2377
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Microcornea, Buphthalmos, Shallow anterior...	OMIM:221900
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran...	OMIM:136800
Coats Disease	Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology	ORPHA:190
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt...	OMIM:616959
Gracile Bone Dysplasia	Asplenia, Micropenis, Aniridia, Microphthalmia, Hypoplastic spleen	OMIM:602361
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Mucolipidosis Iv	Corneal opacity, Opacification of the corneal stroma	OMIM:252650
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Leber Congenital Amaurosis 7	Keratoconus, Cataract	OMIM:613829
Microphthalmia, Isolated 4	Microphthalmia, Absent testis	OMIM:613094
3-Methylglutaconic Aciduria Type 4	Cataract, 3-Methylglutaconic aciduria, Decreased liver function, Thrombocytopenia, Iris hypopigme...	ORPHA:67048
Diamond-Blackfan Anemia 7	Macrocytic anemia, Horseshoe kidney, Increased mean corpuscular volume, Neutropenia, Vesicoureter...	OMIM:612562
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Senior-Loken Syndrome	Cataract, Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chronic kidney disease, Ne...	ORPHA:3156
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Corneal scarring, Buphthalmos, Microphthalmia, Iris coloboma	OMIM:212550
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Mic...	ORPHA:858
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol...	ORPHA:98973
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cataract, Corneal opacity, Optic nerve hypoplasia, Cryptorchidism, 3-Methylglutaconic aciduria	ORPHA:496790
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia, Cataract	OMIM:251270
Wagr Syndrome	Cataract, Cryptorchidism, Aplasia/Hypoplasia of the iris, Ambiguous genitalia, Displacement of th...	ORPHA:893
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Scheie Syndrome	Splenomegaly, Mucopolysacchariduria, Corneal opacity, Hepatomegaly	ORPHA:93474
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Corneal opacity, Peters anomaly, Vesicoureteral reflux, Microphthalmia	OMIM:120200
Morm Syndrome	Micropenis, Cataract	ORPHA:75858
Mevalonic Aciduria	Splenomegaly, Cataract	ORPHA:29
Brittle Cornea Syndrome 2	Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor...	OMIM:614170
Recessive X-Linked Ichthyosis	Cryptorchidism, Opacification of the corneal stroma	ORPHA:461
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Corneal opacity, Isosexual precocious puberty	ORPHA:2788
Alpha-Mannosidosis, Adult Form	Pancytopenia, Cataract, Corneal opacity, Oligosacchariduria, Hepatosplenomegaly	ORPHA:309288
Lcat Deficiency	Hemolytic anemia, Renal insufficiency, Corneal opacity, Proteinuria, Stage 5 chronic kidney disea...	ORPHA:650
Isolated Aniridia	Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly	ORPHA:250923
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Developmental cataract, Microcornea, Bupht...	ORPHA:91495
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Cataract, Corneal dystrophy	ORPHA:1369
Galactosemia I	Hemolytic anemia, Hepatomegaly, Cataract, Hypergonadotropic hypogonadism, Elevated circulating as...	OMIM:230400
Cat-Eye Syndrome	Hydronephrosis, Microphthalmia, Iris coloboma	ORPHA:195
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Proteinuria, Macronodular cirrhosis, Abnormal T cell morphology, Nephrotic syndrome, Mucopolysacc...	OMIM:215250
Sialidosis Type 1	Cataract, Corneal opacity, Urinary excretion of sialylated oligosaccharides, Splenomegaly, Increa...	ORPHA:812
Fish-Eye Disease	Opacification of the corneal stroma	OMIM:136120
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Anophthalmia, Hypospadias, Sclerocornea, Cryptorchidism, Microphthalmia, Iri...	ORPHA:77298
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia, Astigmatism, Cataract	OMIM:619694
Pierpont Syndrome	Microcornea, Microphthalmia, Cryptorchidism	ORPHA:487825
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Cataract	OMIM:619082
Hemochromatosis, Type 4	Hepatomegaly, Cataract, Cirrhosis, Hepatic steatosis, Anemia	OMIM:606069
Multiple Sulfatase Deficiency	Hepatomegaly, Cataract, Corneal opacity, Splenomegaly, Mucopolysacchariduria	ORPHA:585
Bilateral Acute Depigmentation Of The Iris	Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig...	ORPHA:69736
Leber Congenital Amaurosis 6	Keratoconus, Cataract	OMIM:613826
Juvenile Sialidosis Type 2	Hepatomegaly, Cataract, Corneal opacity, Hepatosplenomegaly, Visceromegaly	ORPHA:93399
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Retinitis Pigmentosa 40	Cataract	OMIM:613801
Rodrigues Blindness	Microcornea, Microphthalmia, Sclerocornea	OMIM:268320
Nance-Horan Syndrome	Microcornea, Microphthalmia, Cataract	ORPHA:627
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Zellweger Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Cataract, Corneal opacity, Hypospadias, Brushfield sp...	ORPHA:912
Pierpont Syndrome	Microcornea, Microphthalmia, Micropenis, Cryptorchidism	OMIM:602342
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca, Microphthalmia	ORPHA:1806
Aniridia 2	Aniridia, Iris coloboma, Cataract, Lens subluxation	OMIM:617141
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Mmep Syndrome	Microphthalmia, Cryptorchidism	ORPHA:3434
Leber Congenital Amaurosis 1	Keratoconus, Hepatomegaly, Cataract, Hyperthreoninuria	OMIM:204000
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Hepatomegaly, Cataract, Corneal opacity, Hepatosplenomegaly, Development...	ORPHA:93400
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ambiguous genitalia, Microphthalmia, Cataract	ORPHA:93267
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Multicentric Carpotarsal Osteolysis Syndrome	Renal insufficiency, Corneal opacity, Stage 5 chronic kidney disease, Proteinuria	OMIM:166300
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Lissencephaly 8	Microphthalmia, Cataract	OMIM:617255
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi...	OMIM:617052
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Anophthalmia, Hypospadias, Sclerocornea, Precocious puberty, Microcornea, Ectopia pupil...	OMIM:615877
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom...	ORPHA:231222
Galactosialidosis	Conjunctival telangiectasia, Visceromegaly, Opacification of the corneal stroma, Hepatosplenomegaly	OMIM:256540
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, 11	Microphthalmia, Cataract, Optic nerve hypoplasia	OMIM:615181
8Q21.11 Microdeletion Syndrome	Hypoplasia of penis, Cataract, Corneal opacity, Sclerocornea, Cryptorchidism, Microphthalmia, Iri...	ORPHA:284160
Harel-Yoon Syndrome	Corneal opacity, Developmental cataract	OMIM:617183
Diamond-Blackfan Anemia	Acute myeloid leukemia, Hypospadias, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopen...	ORPHA:124
Rutherfurd Syndrome	Corneal dystrophy, Opacification of the corneal stroma	OMIM:180900
Stromme Syndrome	Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Bilateral renal hypoplasia, Mic...	OMIM:243605
Warburg Micro Syndrome 2	Cataract, Small scrotum, Cryptorchidism, Developmental cataract, Microcornea, Hypoplastic labia m...	OMIM:614225
X-Linked Immunoneurologic Disorder	Cataract, Functional abnormality of the bladder	ORPHA:2571
Walker-Warburg Syndrome	Hypoplasia of penis, Anophthalmia, Cataract, Corneal opacity, Cryptorchidism, Microcornea, Microp...	ORPHA:899
Nanophthalmos	Microphthalmia	ORPHA:35612
Warburg Micro Syndrome 3	Cataract, Small scrotum, Hypoplastic labia minora, Developmental cataract, Microcornea, Shallow a...	OMIM:614222
Alpha-Methylacyl-Coa Racemase Deficiency	Abnormality of the liver, Cataract, Hypergonadotropic hypogonadism	OMIM:614307
Hypergonadotropic Hypogonadism-Cataract Syndrome	Increased circulating gonadotropin level, Cataract, Hypergonadotropic hypogonadism, Secondary gro...	ORPHA:2410
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne...	OMIM:613270
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Developmental cataract	OMIM:613155
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Ophthalmomandibulomelic Dysplasia	Megalocornea, Corneal opacity	ORPHA:2741
Meckel Syndrome	Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Cataract, Anophthalmia, Pan...	ORPHA:564
Joubert Syndrome 9	Cataract, Hepatic fibrosis, Astigmatism, Stage 5 chronic kidney disease	OMIM:612285
Warburg Micro Syndrome 4	Small scrotum, Cryptorchidism, Developmental cataract, Microcornea, Microphthalmia, Micropenis, D...	OMIM:615663
Fanconi Anemia, Complementation Group G	Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia	OMIM:614082
Neurooculocardiogenitourinary Syndrome	Bilateral cryptorchidism, Microphthalmia, Cardiomegaly, Peters anomaly	OMIM:618652
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Aniridia, Developmental glaucoma, Corneal opacity, Unilateral renal agenesis	ORPHA:1064
Hurler-Scheie Syndrome	Hepatomegaly, Corneal opacity, Heparan sulfate excretion in urine, Splenomegaly, Dermatan sulfate...	OMIM:607015
Biemond Syndrome Type 2	Hypogonadism, Microphthalmia, Hypogonadotropic hypogonadism, Hypospadias	ORPHA:141333
Scheie Syndrome	Corneal opacity	OMIM:607016
Corneal Dystrophy, Fuchs Endothelial, 2	Corneal degeneration, Corneal dystrophy, Corneal guttata	OMIM:610158
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop...	OMIM:127550
Sanjad-Sakati Syndrome	Hypoparathyroidism, Hypoplasia of penis, Corneal opacity, Cryptorchidism, Astigmatism, Congenital...	ORPHA:2323
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Elevated hepatic transaminase, Hepatomegaly, Corneal opacity, Optic nerve hypoplasia, Hypospadias...	OMIM:301056
Wagro Syndrome	Decreased testicular size, Cataract, Corneal opacity, Proteinuria, Aniridia, Hypoplastic female e...	OMIM:612469
Oculomaxillofacial Dysostosis	Aplasia/Hypoplasia affecting the eye, Corneal opacity	ORPHA:1794
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Corneal opacity, Bilateral microphthalmos, Microphthalmia, Conjunctival hyperemia	ORPHA:2399
Brachyolmia Type 1, Toledo Type	Increased urinary disaccharide excretion, Opacification of the corneal stroma	OMIM:271630
Bresek Syndrome	Decreased testicular size, Optic nerve hypoplasia, Cryptorchidism, Renal hypoplasia, Vesicoureter...	ORPHA:85284
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia, Bicornuate uterus, Cryptorchidism	OMIM:615524
Matthew-Wood Syndrome	Anophthalmia, Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kid...	ORPHA:2470
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Brushfield spots, Cryptorchidism, Jaundi...	OMIM:214110
Congenital Disorder Of Glycosylation, Type Iq	Elevated hepatic transaminase, Microphthalmia, Cataract, Microcytic anemia	OMIM:612379
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Unilateral microphthalmos, Anemia, Thrombocytopenia	OMIM:615085
Usher Syndrome Type 3	Cataract, Astigmatism, Iris hypopigmentation	ORPHA:231183
Herpes Simplex Virus Stromal Keratitis	Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ...	ORPHA:137599
Trisomy 13	Cataract, Anophthalmia, Displacement of the urethral meatus, Cryptorchidism, Abnormality of the u...	ORPHA:3378
Galactokinase Deficiency	Hepatomegaly, Cataract, Hypergonadotropic hypogonadism, Hepatosplenomegaly, Nuclear cataract, Inc...	ORPHA:79237
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Pellagra-Like Syndrome	Cataract	OMIM:260650
Aniridia-Absent Patella Syndrome	Aniridia, Cryptorchidism, Cataract	ORPHA:1069
Oculoauricular Syndrome	Cataract, Sclerocornea, Phthisis bulbi, Developmental cataract, Microcornea, Iris cyst, Posterior...	OMIM:612109
Aniridia 3	Aniridia, Cataract	OMIM:617142
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cataract, Multicystic kidney dysplasia, Cryptorchidism, Microcornea, Vagin...	ORPHA:3301
Vitreoretinochoroidopathy	Microcornea, Microphthalmia, Pulverulent cataract, Developmental cataract	OMIM:193220
Nanophthalmos 4	Microphthalmia	OMIM:615972
Cataract 1, Multiple Types	Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract	OMIM:116200
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cataract, Splenomegaly, Jaundic...	OMIM:251290
Mosaic Trisomy 9	Hypoplasia of penis, Corneal opacity, Asplenia, Cryptorchidism, Horseshoe kidney, Hydronephrosis,...	ORPHA:99776
Mietens Syndrome	Microcornea, Cataract, Corneal opacity, Sclerocornea	ORPHA:2557
Oculocerebral Hypopigmentation Syndrome, Cross Type	Cataract, Corneal opacity, Ureteral stenosis, Cryptorchidism, Ocular albinism, Aplasia/Hypoplasia...	ORPHA:2719
Fucosidosis	Hepatomegaly, Corneal opacity, Cardiomegaly, Abnormality of the gallbladder, Mucopolysacchariduria	ORPHA:349
Trichothiodystrophy 3, Photosensitive	Cataract, Bilateral cryptorchidism, Developmental cataract, Neutropenia, Microphthalmia, Lymphopenia	OMIM:616395
Cataract 48	Cataract	OMIM:618415
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Triploidy	Hepatomegaly, Hypoplasia of penis, Cataract, Hypospadias, Cryptorchidism, Abnormality of the panc...	ORPHA:3376
Sjogren-Larsson Syndrome	Astigmatism, Opacification of the corneal epithelium	OMIM:270200
Frontofacionasal Dysplasia	Cataract, Brushfield spots, Microcornea, Limbal dermoid, Microphthalmia, Iris coloboma	ORPHA:1791
Myopia 28, Autosomal Recessive	Cataract	OMIM:619781
Neuraminidase Deficiency	Hepatomegaly, Cataract, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marro...	OMIM:256550
Multiple Sulfatase Deficiency	Splenomegaly, Mucopolysacchariduria, Corneal opacity, Hepatomegaly	OMIM:272200
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microcornea, Iris transillumination defect, Cataract, Microphthalmia	OMIM:617306
Idiopathic Uveal Effusion Syndrome	Microphthalmia, Abnormal anterior eye segment morphology	ORPHA:209956
Refsum Disease	Splenomegaly, Microphthalmia, Renal insufficiency, Cataract	ORPHA:773
Myopia, High, With Cataract And Vitreoretinal Degeneration	Cataract, Lens subluxation	OMIM:614292
Multiple Benign Circumferential Skin Creases On Limbs	Small scrotum, Hypospadias, Cryptorchidism, Microcornea, Abnormality of the scrotum, Microphthalmia	ORPHA:2505
Short Syndrome	Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo...	ORPHA:3163
Cystinosis	Renal insufficiency, Corneal opacity, Proteinuria, Portal hypertension, Renal tubular dysfunction...	ORPHA:213
Temtamy Syndrome	Microphthalmia, Iris coloboma	ORPHA:1777
Atopic Keratoconjunctivitis	Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization	ORPHA:163934
Corneal Dystrophy, Thiel-Behnke Type	Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy	OMIM:602082
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Corneal opacity	OMIM:618961
Nance-Horan Syndrome	Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract	OMIM:302350
Lowry-Maclean Syndrome	Corneal opacity, Hypospadias, Bilateral cryptorchidism, Abnormality of the abdominal organs, Deve...	ORPHA:2409
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Tangier Disease	Left ventricular hypertrophy, Splenomegaly, Opacification of the corneal stroma, Hepatomegaly	OMIM:205400
Spondylo-Ocular Syndrome	Cataract, Microphthalmia, Aplasia/Hypoplasia of the lens, Iris hypopigmentation	ORPHA:85194
Carpenter Syndrome	External genital hypoplasia, Abnormal reproductive system morphology, Cryptorchidism, Abnormal co...	ORPHA:65759
Bartsocas-Papas Syndrome	Ambiguous genitalia, Popliteal pterygium, Corneal opacity, Hypoplastic male external genitalia	ORPHA:1234
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Otodental Syndrome	Cataract, Lens coloboma, Microcornea, Microphthalmia, Iris coloboma	ORPHA:2791
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op...	ORPHA:98957
Corneal Dystrophy, Fuchs Endothelial, 4	Corneal dystrophy, Corneal guttata	OMIM:613268
Aniridia And Absent Patella	Aniridia, Cataract	OMIM:106220
Mucopolysaccharidosis Type 7	Splenomegaly, Mucopolysacchariduria, Corneal opacity, Hepatitis	ORPHA:584
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Uraciluria	OMIM:274270
Pelvis-Shoulder Dysplasia	Microphthalmia, Iris coloboma, Opacification of the corneal stroma	OMIM:169550
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Keratitis, Conjunctivitis, Corneal opacity	OMIM:602562
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Rere-Related Neurodevelopmental Syndrome	Hypospadias, Cryptorchidism, Astigmatism, Peters anomaly, Vesicoureteral reflux, Microphthalmia, ...	ORPHA:494344
Farber Disease	Elevated hepatic transaminase, Corneal opacity, Intrahepatic cholestasis with episodic jaundice, ...	ORPHA:333
Micro Syndrome	Hypoplasia of penis, Cataract, Cryptorchidism, Hypoplastic labia minora, Microcornea, Clitoral hy...	ORPHA:2510
Vernal Keratoconjunctivitis	Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate...	ORPHA:70476
Dyschondrosteosis-Nephritis Syndrome	Hematuria, Nephropathy, Corneal opacity, Proteinuria	ORPHA:1765
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Renal hypoplasia, Reticulocytopenia, Persistenc...	OMIM:105650
Encephalocraniocutaneous Lipomatosis	Sclerocornea, Cryptorchidism, Hypoplasia of the iris, Limbal dermoid, Microphthalmia, Pelvic kidn...	OMIM:613001
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Renal hypoplasia, ...	OMIM:609053
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal dystrophy, Corneal guttata	OMIM:615523
Cataract 10, Multiple Types	Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Cataract, Methylmalonic aciduria, Elevated urinary aminoi...	OMIM:614105
Temtamy Syndrome	Microphthalmia, Ectopia lentis, Iris coloboma, Lens luxation	OMIM:218340
Cochleosaccular Degeneration-Cataract Syndrome	Cataract	ORPHA:3233
Hereditary Leiomyomatosis And Renal Cell Cancer	Uterine leiomyosarcoma, Uterine leiomyoma, Cataract, Vaginal neoplasm	ORPHA:523
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Castleman Disease	Renal insufficiency, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Hem...	ORPHA:160
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Cataract, Band keratopathy, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-wasti...	OMIM:604278
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad...	ORPHA:231214
Frontonasal Dysplasia 1	Microphthalmia, Cataract	OMIM:136760
Genetic Hyperferritinemia Without Iron Overload	Cataract, Elevated hepatic iron concentration	ORPHA:254704
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia, Cataract, Cryptorchidism	OMIM:214150
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Cataract, Adrenal hyperplasia, Opacification of the corneal stroma	ORPHA:3453
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Hypoparathyroidism, Familial Isolated, 1	Hypoparathyroidism, Nephrocalcinosis, Cataract	OMIM:146200
Meckel Syndrome, Type 8	Anophthalmia, Polycystic kidney dysplasia, Ambiguous genitalia, Microphthalmia, Enlarged kidney	OMIM:613885
Schimke Immuno-Osseous Dysplasia	Corneal opacity, Proteinuria, Microscopic hematuria, Minimal change glomerulonephritis, Thrombocy...	ORPHA:1830
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract	OMIM:221800
3Mc Syndrome 3	Bifid scrotum, Corneal opacity, Cryptorchidism, Horseshoe kidney, Micropenis, Penoscrotal hypospa...	OMIM:248340
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Band keratopathy, Asplenia, Hepatitis, Thymoma, Keratoconjunctivitis, Chronic hepatitis...	OMIM:269200
Joubert Syndrome 37	Hepatomegaly, Cryptorchidism, Hydronephrosis, Microphthalmia, Micropenis, Decreased testicular size	OMIM:619185
Tangier Disease	Orange discolored tonsils, Corneal opacity, Chronic noninfectious lymphadenopathy, Hepatosplenome...	ORPHA:31150
3Q29 Microduplication Syndrome	Cataract, Sclerocornea, Aniridia, Microphthalmia, Iris coloboma	ORPHA:251038
Xk Aprosencephaly Syndrome	Microphthalmia, Abnormal external genitalia	ORPHA:3469
Microphthalmia, Lenz Type	Cataract, Hypospadias, Hydroureter, Cryptorchidism, Microcornea, Hydronephrosis, Microphthalmia, ...	ORPHA:568
Blindness-Scoliosis-Arachnodactyly Syndrome	Cataract, Lens subluxation, Microphakia	ORPHA:171844
Vitreoretinal Degeneration, Snowflake Type	Cataract, Corneal guttata	OMIM:193230
Fanconi Anemia, Complementation Group J	Microphthalmia, Bone marrow hypocellularity	OMIM:609054
Lymphedema-Hypoparathyroidism Syndrome	Hypoparathyroidism, Renal insufficiency, Cataract, Pulmonary lymphangiectasia, Nephropathy	OMIM:247410
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, Anophthalmia, Cataract, External genital hypoplasia, Cryptorchidism, Hypogon...	ORPHA:2250
Kapur-Toriello Syndrome	Cataract, Cryptorchidism, Hypoplastic labia majora, Microphthalmia, Micropenis, Iris coloboma	OMIM:244300
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocornea, Anterior pitui...	OMIM:206900
Proteus-Like Syndrome	Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Abnormality of the parathy...	ORPHA:2969
Hurler Syndrome	Hepatomegaly, Corneal opacity, Heparan sulfate excretion in urine, Splenomegaly, Enlarged tonsils...	OMIM:607014
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Cataract, Proteinuria, Corneal erosion, Stage 5 chronic kidney disease, Hema...	OMIM:203780
Gm1-Gangliosidosis, Type Iii	Opacification of the corneal stroma	OMIM:230650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Cataract, Abnormally large globe	OMIM:615249
Congenital Muscular Dystrophy With Cerebellar Involvement	Cataract, Optic nerve hypoplasia, Abnormality iris morphology, Microphthalmia, Megalocornea	ORPHA:370959
Pearson Syndrome	Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut...	ORPHA:699
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia, Cryptorchidism	OMIM:164180
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Corneal opacity, Optic nerve hypoplasia, Cryptorchidism, Buphthalmos, Hypoplastic male ...	OMIM:236670
Xeroderma Pigmentosum, Complementation Group D	Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corneal neovascu...	OMIM:278730
Olmsted Syndrome 1	Corneal opacity, Opacification of the corneal stroma	OMIM:614594
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
Generalized Eruptive Keratoacanthoma	Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis	ORPHA:411777
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Hypospadias, Sclerocornea, Ovotestis, Hypoplasia of the uterus, Chordee, Peters anomaly...	OMIM:309801
Hereditary Mucoepithelial Dysplasia	Hematuria, Abnormal morphology of female internal genitalia, Cataract, Corneal dystrophy	ORPHA:1839
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Cataract, Cholestatic liver disease, Hypogon...	ORPHA:79095
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean...	OMIM:618278
Cutis Laxa, Autosomal Dominant 3	Corneal opacity, Unilateral renal agenesis, Developmental cataract	OMIM:616603
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Chromosome 8Q21.11 Deletion Syndrome	Cataract, Sclerocornea, Cryptorchidism, Microphthalmia, Micropenis	OMIM:614230
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Cataract, Proteinuria, Glomerulonephritis, Supernumerary nipple, Stage 5 chronic ki...	OMIM:614376
Myotonic Dystrophy 1	Hypogonadism, Cholelithiasis, Cataract, Testicular atrophy	OMIM:160900
Al-Gazali Syndrome	Corneal opacity, Hydronephrosis, Sclerocornea	OMIM:609465
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,...	OMIM:619313
Axenfeld-Rieger Syndrome, Type 2	Hypospadias, Cryptorchidism, Microcornea, Opacification of the corneal stroma, Anterior chamber s...	OMIM:601499
Oculocerebrocutaneous Syndrome	Cryptorchidism, Corneal opacity, Iris coloboma	ORPHA:1647
Cardiomyopathy, Dilated, 1Ii	Cataract	OMIM:615184
Fryns Syndrome	Multicystic kidney dysplasia, Corneal opacity, Hypospadias, Cryptorchidism, Bicornuate uterus, Ve...	ORPHA:2059
Wilson Disease	Acute hepatic failure, Aminoaciduria, Hepatic steatosis, Hypoparathyroidism, Hemolytic anemia, He...	OMIM:277900
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Ophthalmomandibulomelic Dysplasia	Megalocornea, Opacification of the corneal stroma	OMIM:164900
Histiocytoid Cardiomyopathy	Hepatomegaly, Corneal opacity, Cardiomegaly, Renal cyst, Polycystic ovaries, Microphthalmia, Mega...	ORPHA:137675
Tetraamelia Syndrome 1	Cataract, Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, Urethral atresia...	OMIM:273395
Oculofaciocardiodental Syndrome	Cataract, Ectopia lentis, Microcornea, Microphthalmia, Iris coloboma	ORPHA:2712
Adams-Oliver Syndrome 2	Microphthalmia, Developmental cataract	OMIM:614219
Mucolipidosis Type Iv	Corneal opacity	ORPHA:578
Adams-Oliver Syndrome	Cataract, Portal hypertension, Congenital hepatic fibrosis, Leukopenia, Cirrhosis, Microphthalmia...	ORPHA:974
Ichthyosis, Congenital, Autosomal Recessive 11	Corneal opacity	OMIM:602400
Familial Isolated Hypoparathyroidism	Hypoparathyroidism, Nephropathy, Cataract	ORPHA:2238
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio...	ORPHA:96125
Papillorenal Syndrome	Multicystic kidney dysplasia, Cataract, Proteinuria, Lens luxation, Absence of renal corticomedul...	OMIM:120330
Familial Dysautonomia	Abnormal peritoneum morphology, Renal insufficiency, Corneal opacity, Abnormal pupil morphology, ...	ORPHA:1764
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia, Cataract, Oligosacchariduria	ORPHA:163649
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Cardiomegaly, Splenomegaly, Opacification of the corneal stroma	OMIM:231005
Peroxisome Biogenesis Disorder 10B	Nephrocalcinosis, Neurogenic bladder, Cataract	OMIM:617370
Autosomal Recessive Cutis Laxa Type 2A	Abnormal cornea morphology, Corneal opacity	ORPHA:357058
Kapur-Toriello Syndrome	Hypoplastic labia majora, Microphthalmia, Hypoplasia of penis, Iris coloboma	ORPHA:2328
Baraitser-Winter Syndrome 1	Microphthalmia, Micropenis, Iris coloboma, Cryptorchidism	OMIM:243310
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Dysuria, Nephrolithiasis, Stage 5 chronic kidney disease, Nephrocalcin...	ORPHA:93598
Gm1 Gangliosidosis	Splenomegaly, Abnormality of the scrotum, Corneal opacity, Hepatosplenomegaly	ORPHA:354
Basel-Vanagaite-Smirin-Yosef Syndrome	Cataract, Hypospadias, Microcornea, Microphthalmia, Hydronephrosis, Clitoral hypertrophy	OMIM:616449
Schimmelpenning-Feuerstein-Mims Syndrome	Precocious puberty, Hyperphosphaturia, Corneal opacity, Horseshoe kidney	OMIM:163200
Meckel Syndrome, Type 5	Microphthalmia, Bile duct proliferation, Renal cyst	OMIM:611561
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Hypoplasia of penis, Hydroureter	ORPHA:2547
Microphthalmia, Syndromic 9	Anophthalmia, Cryptorchidism, Bilateral microphthalmos, Multilobulated spleen, Renal hypoplasia, ...	OMIM:601186
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Peters anomaly	OMIM:614526
Lathosterolosis	Hepatomegaly, Hypoplasia of penis, Cataract, Intrahepatic cholestasis, Anisopoikilocytosis, Abnor...	ORPHA:46059
Mirage Syndrome	Hypospadias, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia, Leukopenia, Microp...	OMIM:617053
Mucopolysaccharidosis, Type Ivb	Hepatomegaly, Corneal opacity, Opacification of the corneal stroma, Chondroitin sulfate excretion...	OMIM:253010
Sandestig-Stefanova Syndrome	Microphthalmia, Developmental cataract	OMIM:618804
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Corneal erosion, Cataract, Decreased proportion of class-switched memory B cells	OMIM:614878
Oculopalatocerebral Syndrome	Microphthalmia, Leukocoria	OMIM:257910
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Cadds	Elevated hepatic transaminase, Cataract, Cholangitis, Cholestasis	ORPHA:369942
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Micropenis	OMIM:308350
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia, Shallow anterior chamber	OMIM:305390
Neurotrophic Keratopathy	Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosions, Corneal perfora...	ORPHA:137596
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen	ORPHA:89844
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Thyroid C cell hyperplasia, Sclerocornea	OMIM:300952
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Cataract, Portal hyper...	OMIM:620005
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Eisenmenger Syndrome	Renal insufficiency, Elevated circulating C-reactive protein concentration, Hypochromic microcyti...	ORPHA:97214
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Leukemia	OMIM:602501
Wolfram Syndrome 1	Sideroblastic anemia, Neurogenic bladder, Cataract, Hydroureter, Megaloblastic anemia, Testicular...	OMIM:222300
Isolated Ectopia Lentis	Ectopia pupillae, Cataract, Ectopia lentis	ORPHA:1885
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia, Ectopia pupillae, Corneal opacity, Lens subluxation	ORPHA:85167
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Corneal opacity, Optic nerve hypoplasia, Corneal dystrophy, Hypospadias, Cryptorchidism, Hypoplas...	ORPHA:495875
Oculogastrointestinal Neurodevelopmental Syndrome	Vaginal fistula, Bilateral microphthalmos, Unilateral microphthalmos, Horseshoe kidney	OMIM:619318
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia, Cataract	OMIM:616538
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Cataract, Splenomegaly, Jaundice, Nuclear cataract, Stomatocytosis	OMIM:608885
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia, Ectopia pupillae, Astigmatism, Cataract	OMIM:618727
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Corneal opacity, Heparan sulfate excretion in urine, Splenomegaly, Dermatan sulfate...	OMIM:253220
Frontorhiny	Microphthalmia, Hypopituitarism, Cataract, Iris coloboma	ORPHA:391474
Focal Dermal Hypoplasia	Acute hepatic failure, Multicystic kidney dysplasia, Corneal opacity, Ectopia lentis, Horseshoe k...	ORPHA:2092
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microcornea, Microphthalmia, Increased circulating gonadotropin level, Hypoplasia of the uterus	OMIM:110100
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Familial Exudative Vitreoretinopathy	Microphthalmia, Cataract	ORPHA:891
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma, Renal hypoplasia	OMIM:618914
Coloboma, Ocular, Autosomal Recessive	Iris coloboma, Cataract, Lens subluxation	OMIM:216820
Brittle Cornea Syndrome 1	Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness	OMIM:229200
Mosaic Trisomy 8	Corneal opacity, Cryptorchidism, Hydronephrosis, Vesicoureteral reflux, Decreased testicular size	ORPHA:96061
Mucopolysaccharidosis Type 6	Splenomegaly, Mucopolysacchariduria, Opacification of the corneal stroma	ORPHA:583
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
X-Linked Dominant Chondrodysplasia Punctata	Microcornea, Microphthalmia, Cataract, Hydronephrosis	ORPHA:35173
Microphthalmia, Syndromic 11	Microphthalmia, Agenesis of pineal gland	OMIM:614402
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Opacification of the corneal stroma	OMIM:601356
Seckel Syndrome 2	Microphthalmia, Hypospadias, Ectopic kidney	OMIM:606744
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Astigmatism, Cataract	OMIM:618571
Hurler Syndrome	Hepatomegaly, Corneal opacity, Abnormality of the tonsils, Splenomegaly, Mucopolysacchariduria	ORPHA:93473
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Cataract, Hypogonadism	OMIM:610651
Pierson Syndrome	Diffuse mesangial sclerosis, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Proteinuri...	OMIM:609049
Tyrosinemia Type 2	Corneal opacity	ORPHA:28378
Martsolf Syndrome 1	Cataract, Hypogonadotropic hypogonadism, Cryptorchidism, Developmental cataract, Microphthalmia, ...	OMIM:212720
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Ectopic thyroid, Microphthalmia, H...	ORPHA:42775
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Ketonuria, Renal hypoplasia, Hepatomegaly	OMIM:619053
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Mosaic Variegated Aneuploidy Syndrome	Multicystic kidney dysplasia, Cataract, Corneal opacity, Vaginal neoplasm, Acute lymphoblastic le...	ORPHA:1052
Insensitivity To Pain, Congenital, With Anhidrosis	Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corneal stroma, Cor...	OMIM:256800
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, Hypogonadotropic hypogonadism	ORPHA:1135
Schimke Immunoosseous Dysplasia	Pancytopenia, Renal insufficiency, Proteinuria, Bilateral cryptorchidism, Thrombocytopenia, Stage...	OMIM:242900
Stormorken Syndrome	Howell-Jolly bodies, Asplenia, Anemia, Hematuria, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Peroxisome Biogenesis Disorder 5A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Hypospadias, Elevated circulating aspart...	OMIM:614866
Jacobsen Syndrome	Hypospadias, Cryptorchidism, Microcornea, Clitoral hypoplasia, Macular hypoplasia, Labial hypopla...	OMIM:147791
Trichothiodystrophy 4, Nonphotosensitive	Microcornea, Microphthalmia, Keratoconjunctivitis sicca	OMIM:234050
Mucopolysaccharidosis Type 1	Splenomegaly, Mucopolysacchariduria, Corneal opacity, Abnormality of the tonsils	ORPHA:579
Mosaic Trisomy 1	Hepatic agenesis, Renal cyst, Renal cortical cysts, Opacification of the corneal stroma, Micropht...	ORPHA:1692
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Cataract, Female hypogonadism, Chronic active hepatitis, Asplenia, Keratoconj...	OMIM:240300
Phace Association	Microphthalmia, Optic nerve hypoplasia, Lingual thyroid, Developmental cataract	OMIM:606519
Mucolipidosis Iii Gamma	Opacification of the corneal stroma	OMIM:252605
Incontinentia Pigmenti	Cataract, Corneal opacity, Eosinophilia, Supernumerary nipple, Keratitis, Microphthalmia	ORPHA:464
Proboscis Lateralis	Anophthalmia, Cataract, Corneal opacity, Optic nerve hypoplasia, External genital hypoplasia, Uni...	ORPHA:141099
Skin Creases, Congenital Symmetric Circumferential, 1	Microcornea, Microphthalmia, Hypoplastic nipples	OMIM:156610
Meckel Syndrome, Type 2	Microphthalmia, Bile duct proliferation, Renal cyst	OMIM:603194
Curry-Jones Syndrome	Microphthalmia, Iris coloboma	ORPHA:1553
Incontinentia Pigmenti	Hypoplasia of the fovea, Cataract, Eosinophilia, Supernumerary nipple, Keratitis, Leukocytosis, B...	OMIM:308300
Braddock-Carey Syndrome 2	Microphthalmia, Thrombocytopenia	OMIM:619981
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Biliary tract abnormality	ORPHA:3191
Joubert Syndrome 22	Microphthalmia, Renal hypoplasia	OMIM:615665
Cataract 20, Multiple Types	Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract	OMIM:116100
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Developmental cataract, Microcornea, Male urethral meatus stenosis, Microphthalmia, ...	ORPHA:464738
Trichothiodystrophy 1, Photosensitive	Cataract, Microcornea, Keratoconjunctivitis sicca, Hypogonadism, Microphthalmia	OMIM:601675
3Q29 Microdeletion Syndrome	Microphthalmia, Cataract, Hypospadias, Horseshoe kidney	ORPHA:65286
Cockayne Syndrome Type 3	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cataract, Neurogenic bladder, H...	ORPHA:90324
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Buphthalmos, Persistent pupillary membrane, Peters anomaly, Microphthalmia	OMIM:613150
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Conjunctival hyperemia	OMIM:167730
Dahlberg-Borer-Newcomer Syndrome	Hypoparathyroidism, Nephropathy, Renal insufficiency, Cataract	ORPHA:1563
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Corneal opacity, Hypospadias, Unilateral renal agenesis, Cryptorchidism, Renal cyst, Posterior pi...	ORPHA:464311
Morning Glory Disc Anomaly	Cataract	ORPHA:35737
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Microphthalmia, Anemia, Developmental cataract	OMIM:127000
Carpenter Syndrome 1	Hydroureter, External genital hypoplasia, Precocious puberty, Cryptorchidism, Microcornea, Polysp...	OMIM:201000
Mucopolysaccharidosis Type 3	Hepatomegaly, Cataract, Corneal opacity, Adenoiditis, Heparan sulfate excretion in urine, Splenom...	ORPHA:581
1Q21.1 Microdeletion Syndrome	Cataract, Cryptorchidism, Hydronephrosis, Vesicoureteral reflux, Microphthalmia, Iris coloboma	ORPHA:250989
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Anophthalmia, Corneal opacity, Hypospadias, Sclerocornea, Epispadias, ...	ORPHA:2556
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ocular anterior segment dysgenesis, Bilateral microphthalmos, Cryptorchidism	ORPHA:369891
Oculodentodigital Dysplasia, Autosomal Recessive	Microcornea, Microphthalmia, Cataract, Persistent pupillary membrane	OMIM:257850
Fanconi Anemia, Complementation Group S	Microphthalmia, Ovarian carcinoma, Anemia, Ovarian neoplasm	OMIM:617883
Lathosterolosis	Elevated hepatic transaminase, Cataract, Bilobate gallbladder, Increased mean platelet volume, Ac...	OMIM:607330
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Microphthalmia, Hydronephrosis	OMIM:618494
Dyrk1A-Related Intellectual Disability Syndrome	Corneal opacity, Anterior pituitary hypoplasia, Hypospadias, Unilateral renal agenesis, Cryptorch...	ORPHA:464306
Bosma Arhinia Microphthalmia Syndrome	Cataract, Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Hypoplastic labia majora, M...	OMIM:603457
Meckel Syndrome, Type 4	Microphthalmia, Bile duct proliferation, Renal cyst	OMIM:611134
Moebius Syndrome	Microphthalmia, Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size	OMIM:157900
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Hypospadias, Brushfield spots, Cryptorch...	OMIM:214100
Acro-Renal-Ocular Syndrome	Cataract, Optic disc hypoplasia, Horseshoe kidney, Microcornea, Bladder diverticulum, Vesicourete...	ORPHA:959
Gomez-Lopez-Hernandez Syndrome	Decreased response to growth hormone stimulation test, Opacification of the corneal stroma	OMIM:601853
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Cryptorchidism, Thrombocytopenia, Renal hy...	OMIM:603467
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Macroorchidism, Unilateral microphthalmos, Iris coloboma, Hypospadias	OMIM:618874
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Ureteral agenesis, Microphtha...	OMIM:617914
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia	OMIM:300887
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Small scrotum, Proteinuria, Cryptorchidism, Multiple bladder diverticula, Microphthalmia	ORPHA:2728
Vacterl With Hydrocephalus	Anophthalmia, Cryptorchidism, Microcornea, Abnormal fallopian tube morphology, Microphthalmia	ORPHA:3412
Rothmund-Thomson Syndrome, Type 2	Cataract, Cryptorchidism, Microcornea, Hypogonadism, Microphthalmia, Annular pancreas, Zonular ca...	OMIM:268400
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of ...	OMIM:175780
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia, Small scrotum, Hypogonadism, Cryptorchidism	ORPHA:228390
Mucopolysaccharidosis Type 4	Mucopolysacchariduria, Corneal opacity	ORPHA:582
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Corneal opacity, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Hepatos...	ORPHA:2072
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Corneal opacity	ORPHA:364577
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Cataract, Proteinuria, Hypoplasia of the iris, ...	OMIM:251300
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Abnormal pupil morphology, Oligosacchariduria, Nephrocalcinosis, Aminoacidur...	ORPHA:534
Oculo-Palato-Cerebral Syndrome	Microphthalmia, Cataract, Leukocoria	ORPHA:2714
Ifap Syndrome 2	Keratitis, Keratoconjunctivitis sicca, Cataract	OMIM:619016
Fanconi Anemia, Complementation Group R	Microphthalmia, Pelvic kidney, Bone marrow hypocellularity, Anemia	OMIM:617244
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Gorlin-Chaudhry-Moss Syndrome	Astigmatism, Sclerocornea	ORPHA:2095
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Cataract, Corneal opacity, Eosinophilia, Pancreatic cysts, Thrombocytopenia...	OMIM:274000
Chromosome 6Pter-P24 Deletion Syndrome	Axenfeld anomaly, Opacification of the corneal stroma, Peters anomaly, Ocular anterior segment dy...	OMIM:612582
Alpha-Mannosidosis, Infantile Form	Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly, Oligosacchariduria, Astigmatism	ORPHA:309282
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Microphthalmia, Corneal opacity	OMIM:601812
Treacher-Collins Syndrome	Thyroid hypoplasia, Hypoplasia of penis, Cataract, Small scrotum, Cryptorchidism, Hypoplasia of t...	ORPHA:861
Hydrolethalus	Microphthalmia, Anophthalmia, Abnormal fallopian tube morphology, Cryptorchidism	ORPHA:2189
Norrie Disease	Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Cryptorc...	ORPHA:649
De Barsy Syndrome	Cryptorchidism, Cataract, Corneal opacity	ORPHA:2962
Pelvis-Shoulder Dysplasia	Bilateral microphthalmos, Microcornea, Hydronephrosis, Ambiguous genitalia, Iris coloboma	ORPHA:2839
Mucoepithelial Dysplasia, Hereditary	Cataract, Eosinophilia, Keratoconjunctivitis, Hematuria, Opacification of the corneal stroma, Cor...	OMIM:158310
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t...	ORPHA:263479
Ocular Cystinosis	Corneal crystals	ORPHA:411641
Congenital Disorder Of Deglycosylation 1	Elevated hepatic transaminase, Hepatomegaly, Corneal opacity, Heparan sulfate excretion in urine,...	OMIM:615273
Cockayne Syndrome B	Hepatomegaly, Renal insufficiency, Proteinuria, Cryptorchidism, Splenomegaly, Developmental catar...	OMIM:133540
Ablepharon Macrostomia Syndrome	Hypoplasia of penis, Corneal opacity, Corneal erosion, Ambiguous genitalia, Abnormality of female...	ORPHA:920
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Fanconi Anemia, Complementation Group E	Pancytopenia, Hypergonadotropic hypogonadism, Ectopic kidney, Cryptorchidism, Thrombocytopenia, R...	OMIM:600901
Duane-Radial Ray Syndrome	Cataract, Optic disc hypoplasia, Renal hypoplasia, Horseshoe kidney, Hydronephrosis, Vesicoureter...	OMIM:607323
Mucopolysaccharidosis, Type Vi	Splenomegaly, Corneal opacity, Dermatan sulfate excretion in urine, Hepatomegaly	OMIM:253200
Steinfeld Syndrome	Microphthalmia, Iris coloboma, Absent gallbladder	OMIM:184705
Fraser Syndrome 1	Anophthalmia, Corneal opacity, Hypospadias, Cryptorchidism, Bilateral microphthalmos, Renal hypop...	OMIM:219000
Moebius Syndrome	Breast aplasia, Corneal opacity, Hypogonadotropic hypogonadism	ORPHA:570
Trisomy 18	Cataract, Cryptorchidism, Microcornea, Hydronephrosis, Microphthalmia, Abnormal morphology of fem...	ORPHA:3380
Fabry Disease	Conjunctival telangiectasia, Renal insufficiency, Cataract, Corneal opacity, Corneal dystrophy, P...	ORPHA:324
Fryns Syndrome	Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Cryptorchidism, Rena...	OMIM:229850
Alagille Syndrome 1	Multiple small medullary renal cysts, Microcornea, Vesicoureteral reflux, Abnormal anterior chamb...	OMIM:118450
Tbck-Related Intellectual Disability Syndrome	Cryptorchidism, Neurogenic bladder, Corneal opacity, Decreased response to growth hormone stimula...	ORPHA:488632
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Cryptorchidism, Microphthalmia, Micropenis...	OMIM:241410
Bartsocas-Papas Syndrome 1	Absent external genitalia, Bilateral cryptorchidism, Ectopic kidney, Micropenis, Hypoplastic labi...	OMIM:263650
Lymphedema-Distichiasis Syndrome	Microphthalmia, Corneal ulceration, Conjunctivitis, Recurrent corneal erosions	OMIM:153400
Mednik Syndrome	Cirrhosis, Cataract, Hepatic fibrosis, Cholestasis	OMIM:609313
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Cataract, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Anterior l...	OMIM:308940
Fanconi Anemia, Complementation Group A	Pancytopenia, Hypergonadotropic hypogonadism, Ectopic kidney, Cryptorchidism, Thrombocytopenia, R...	OMIM:227650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Microphthalmia, Cataract, Optic nerve hypoplasia, Peters anomaly	OMIM:614643
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease, Corneal crystals	OMIM:219900
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Renal insufficiency, Cataract, Hypospadias, Hydrouret...	ORPHA:84
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia, Cataract, Hydronephrosis	OMIM:302960
Cat Eye Syndrome	Biliary atresia, Horseshoe kidney, Hydronephrosis, Vesicoureteral reflux, Microphthalmia, Iris co...	OMIM:115470
Marden-Walker Syndrome	Hypospadias, Cryptorchidism, Renal hypoplasia, Microphthalmia, Micropenis	OMIM:248700
Cockayne Syndrome	Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Cataract, Renal insufficiency, U...	ORPHA:191
Fanconi Anemia, Complementation Group C	Pancytopenia, Hypergonadotropic hypogonadism, Ectopic kidney, Cryptorchidism, Thrombocytopenia, R...	OMIM:227645
Cystinosis, Adult Nonnephropathic	Corneal crystals	OMIM:219750
Gaucher Disease	Hepatomegaly, Pancytopenia, Corneal opacity, Proteinuria, Splenomegaly, Hepatitis, Anemia, Hematu...	ORPHA:355
Meckel Syndrome, Type 1	Accessory spleen, External genital hypoplasia, Malformation of the hepatic ductal plate, Asplenia...	OMIM:249000
Spondylodysplastic Ehlers-Danlos Syndrome	Agenesis of pineal gland, Corneal opacity, Optic nerve hypoplasia, Cryptorchidism, Posterior subc...	ORPHA:536471
Dubowitz Syndrome	Aplastic anemia, Hypospadias, Cryptorchidism, Hypoplasia of the iris, Acute lymphoblastic leukemi...	OMIM:223370
Cousin Syndrome	Ambiguous genitalia, female, Microcornea, Ambiguous genitalia, male, Microphthalmia, Hydronephrosis	OMIM:260660
Oculoectodermal Syndrome	Supernumerary nipple, Pineal cyst, Microcornea, Astigmatism, Opacification of the corneal stroma,...	OMIM:600268
Solitary Median Maxillary Central Incisor	Microphthalmia, Anterior hypopituitarism, Anophthalmia, Decreased response to growth hormone stim...	OMIM:147250
Ciliary Dyskinesia, Primary, 1	Asplenia, Abnormal cornea morphology	OMIM:244400
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Fanconi Anemia, Complementation Group D2	Pancytopenia, Hypergonadotropic hypogonadism, Ectopic kidney, Cryptorchidism, Thrombocytopenia, R...	OMIM:227646
Atelis Syndrome 2	Microphthalmia, Thrombocytopenia, Anemia, Developmental cataract	OMIM:620185
Frontofacionasal Dysplasia	Microcornea, Microphthalmia, Cataract, Iris coloboma	OMIM:229400
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Cataract, Corneal opacity, Hypospadias, Enlarged labia minora, Cryptorchidism, ...	OMIM:268300
Apolipoprotein A-I Deficiency	Opacification of the corneal stroma	ORPHA:425
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Ocular albinism	ORPHA:1352
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Iris coloboma, Supernumerary nipple	ORPHA:1236
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Cataract	OMIM:619649
Bietti Crystalline Corneoretinal Dystrophy	Marginal corneal dystrophy, Corneal crystals	OMIM:210370
Multicentric Osteolysis, Nodulosis, And Arthropathy	Peripheral opacification of the cornea, Corneal opacity	OMIM:259600
Kindler Epidermolysis Bullosa	Urethral stricture, Corneal opacity, Phimosis, Neoplasm of the urethra, Conjunctivitis, Anemia	ORPHA:2908
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia, Cataract	OMIM:253800
Cohen Syndrome	Cryptorchidism, Microphthalmia, Iris coloboma, Neutropenia	ORPHA:193
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia, Cryptorchidism	ORPHA:404440
Mucopolysaccharidosis, Type Iva	Keratan sulfate excretion in urine, Hepatomegaly, Chondroitin sulfate excretion in urine, Opacifi...	OMIM:253000
Fraser Syndrome 2	Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Hypoplasia of the thymus, Ambiguo...	OMIM:617666
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Cataract, Hypospadias, Multicystic kidney dysplasia, Sclerocornea, Cryptorch...	ORPHA:818
Basal Cell Nevus Syndrome 1	Cataract, Ovarian fibroma, Ovarian carcinoma, Microphthalmia, Iris coloboma	OMIM:109400
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Roberts Syndrome	Clitoral hypertrophy, Cataract, Cryptorchidism, Long penis, Polycystic kidney dysplasia, Micropht...	ORPHA:3103
Meckel Syndrome 14	Hepatic fibrosis, Polycystic kidney dysplasia, Aplasia of the uterus, Ambiguous genitalia, Microp...	OMIM:619879
Mucolipidosis Iii Alpha/Beta	Opacification of the corneal stroma, Hyperopic astigmatism	OMIM:252600
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Cataract, Hypospadias, Abnormality of the tonsils, Cryptorchidism, Splenomega...	ORPHA:567
Dyggve-Melchior-Clausen Disease	Corneal opacity	ORPHA:239
Neurofibromatosis Type 1	Cataract, Corneal opacity, Precocious puberty, Cryptorchidism, Chronic myelogenous leukemia, Pheo...	ORPHA:636
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia, Unilateral cryptorchidism	OMIM:206920
Pallister-Hall Syndrome	Thyroid dysgenesis, Hydroureter, Decreased response to growth hormone stimulation test, Distal ur...	OMIM:146510
Mucopolysaccharidosis Type 2, Severe Form	Corneal opacity, Heparan sulfate excretion in urine, Splenomegaly, Enlarged tonsils, Dermatan sul...	ORPHA:217085
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos, Developmental cataract, Congenital hypoparathyroidism, Decreased testic...	ORPHA:93325
Monosomy 18P	Microphthalmia	ORPHA:1598
Monosomy 9Q22.3	Microphthalmia, Cataract, Ovarian fibroma	ORPHA:77301
Hallermann-Streiff Syndrome	Cryptorchidism, Microphthalmia, Abdominal situs inversus, Developmental cataract	ORPHA:2108
Digeorge Syndrome	Renal insufficiency, Parathyroid agenesis, Sclerocornea, Unilateral renal agenesis, Thrombocytope...	OMIM:188400
Mucopolysaccharidosis Type 2, Attenuated Form	Corneal opacity, Heparan sulfate excretion in urine, Splenomegaly, Enlarged tonsils, Dermatan sul...	ORPHA:217093
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Corneal opacity, Anemia	ORPHA:79396
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Opacification of the corneal stroma	OMIM:313400
Chromosome 13Q33-Q34 Deletion Syndrome	Bifid scrotum, Hypospadias, Cryptorchidism, Penoscrotal transposition, Left ventricular hypertrop...	OMIM:619148
Linear Nevus Sebaceus Syndrome	Microphthalmia, Adenoma sebaceum, Iris coloboma	ORPHA:2612
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Cataract, Corneal opacity, Hypospadias, Crypt...	ORPHA:709
Holoprosencephaly	Hypoplasia of penis, Anophthalmia, Proteinuria, Cryptorchidism, Abnormality of the spleen, Microp...	ORPHA:2162
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, Supernumerary nipple, Cryptorchidism	OMIM:612530
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Cryptorchidism, Bicarbonaturia, Proximal renal tubular ac...	OMIM:309000
Trichothiodystrophy	Cryptorchidism, Bilateral microphthalmos, Increased mean corpuscular hemoglobin concentration, De...	ORPHA:33364
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Hypospadias, Cryptorchidism, Renal cyst, Peters anomaly, Vesicoureteral reflux, Microphthalmia, A...	OMIM:616975
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Anophthalmia, Abnormality of the spleen, Horseshoe ki...	ORPHA:2538
Hallermann-Streiff Syndrome	Microphthalmia, Cataract, Iris coloboma, Cryptorchidism	OMIM:234100
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Oculodentodigital Dysplasia	Microcornea, Microphthalmia, Neurogenic bladder, Cataract	OMIM:164200
Chime Syndrome	Corneal opacity, Hydronephrosis, Acute leukemia	ORPHA:3474
Mucopolysaccharidosis Type 2	Splenomegaly, Enlarged tonsils, Corneal opacity, Hepatomegaly	ORPHA:580
Skin Creases, Congenital Symmetric Circumferential, 2	Small scrotum, Hypospadias, Cryptorchidism, Microcornea, Ureterocele, Microphthalmia	OMIM:616734
Osteoporosis-Pseudoglioma Syndrome	Iris atrophy, Cataract, Phthisis bulbi, Absent anterior chamber of the eye, Microphthalmia	OMIM:259770
Limb Body Wall Complex	Abnormality of the liver, Lens subluxation, Corneal opacity, Iris coloboma	ORPHA:2369
Larsen Syndrome	Cryptorchidism, Corneal opacity	OMIM:150250
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia, Supernumerary nipple	OMIM:620098
Mend Syndrome	Microphthalmia, Cataract, Cryptorchidism	ORPHA:401973
Williams Syndrome	Hypoplasia of penis, Cardiomegaly, Nephrocalcinosis, Vesicoureteral reflux, Megalocornea, Pelvic ...	ORPHA:904
Mycophenolate Mofetil Embryopathy	Microphthalmia, Iris coloboma, Ectopic kidney	ORPHA:268249
Wolf-Hirschhorn Syndrome	Hypospadias, Sclerocornea, Cryptorchidism, Abnormality of the gallbladder, Abdominal situs invers...	ORPHA:280
Cockayne Syndrome A	Hepatomegaly, Renal insufficiency, Cataract, Proteinuria, Splenomegaly, Cryptorchidism, Thymic ho...	OMIM:216400
Xeroderma Pigmentosum	Conjunctival telangiectasia, Cataract, Keratitis, Cryptorchidism, Aminoaciduria, Hypogonadism, Op...	ORPHA:910
Pseudotrisomy 13 Syndrome	Cryptorchidism, Renal hypoplasia, Bicornuate uterus, Microphthalmia, Micropenis	OMIM:264480
Ritscher-Schinzel Syndrome 3	Microphthalmia, Cryptorchidism	OMIM:619135
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia, Iris coloboma, Absent gallbladder	ORPHA:3186
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Thyroid hypoplasia, Absent nipple, Aplasia of the thymus, Hydrocele testis, Hypoplastic nipples, ...	OMIM:620186
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Buphthalmos, Hypoplasia of the retina, Opacification of the corneal stroma, Microphthal...	OMIM:253280
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
2Q31.1 Microdeletion Syndrome	Microphthalmia, Iris coloboma, Cryptorchidism	ORPHA:251014
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Corneal opacity	OMIM:608670
Monosomy 13Q14	Microphthalmia, Cataract, Iris coloboma	ORPHA:1587
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Cataract, Hypospadias, Rectoperineal fistula, Renal insuffici...	ORPHA:857
Chromosome 13Q14 Deletion Syndrome	Supernumerary nipple, Cryptorchidism, Microphthalmia, Micropenis, Iris coloboma	OMIM:613884
Joubert Syndrome 14	Microphthalmia, Renal cyst	OMIM:614424
Yunis-Varon Syndrome	Cataract, Hypospadias, Sclerocornea, Cardiomegaly, Cryptorchidism, Bilateral microphthalmos, Reno...	ORPHA:3472
Ohdo Syndrome, X-Linked	Small scrotum, Cryptorchidism, Shawl scrotum, Microphthalmia, Micropenis	OMIM:300895
Aicardi Syndrome	Precocious puberty, Microphthalmia, Cataract, Hepatoblastoma	OMIM:304050
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Hypospadias, Optic nerve hypoplasia, Renal hypoplasia, Horseshoe kidney, Microphthalmia, Pelvic k...	ORPHA:508498
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Renal hypoplasia, Bone marrow hypocellularity, Aplasia of the uterus, ...	OMIM:614083
Acrofrontofacionasal Dysostosis 1	Microphthalmia, Iris atrophy	OMIM:201180
Joubert Syndrome 2	Renal insufficiency, Renal cyst, Nephronophthisis, Hypoplastic male external genitalia, Microphth...	OMIM:608091
Autosomal Dominant Cutis Laxa	Corneal opacity, Unilateral renal agenesis, Pyelonephritis, Developmental cataract, Bladder diver...	ORPHA:90348
Encephalocraniocutaneous Lipomatosis	Corneal opacity, Iris coloboma	ORPHA:2396
Curry-Jones Syndrome	Microphthalmia, Iris coloboma	OMIM:601707
Microphthalmia, Syndromic 2	Anophthalmia, Hypospadias, Septate vagina, Cryptorchidism, Phthisis bulbi, Developmental cataract...	OMIM:300166
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Hydroureter, Corneal opacity, Keratitis, Cryptorchidism, Corneal erosion, Astigmatism, Conjunctiv...	ORPHA:2273
Charge Syndrome	Hypoparathyroidism, Anophthalmia, Cataract, Decreased response to growth hormone stimulation test...	OMIM:214800
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Opacification of the corneal str...	OMIM:252500
Cystinosis, Nephropathic	Hepatomegaly, Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Splenomegaly, Stage ...	OMIM:219800
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia, Vaginal atresia	OMIM:248450
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Anophthalmia, Microphthalmia, Leukemia, Cataract	ORPHA:2526
Microphthalmia, Syndromic 6	Anophthalmia, Small scrotum, Female hypogonadism, Sclerocornea, Cryptorchidism, Renal hypoplasia,...	OMIM:607932
Wiedemann-Rautenstrauch Syndrome	Cataract, Optic disc hypoplasia, Corneal opacity, Decreased response to growth hormone stimulatio...	ORPHA:3455
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of penis, Hypospadias, Cryptorchidism, Ambiguous genitalia, Microphthalmia, Thyroid hy...	ORPHA:2166
Neurocardiofaciodigital Syndrome	Vesicoureteral reflux, Cataract, Sclerocornea	OMIM:619869
Renpenning Syndrome 1	Cataract, Hypospadias, Phimosis, Renal hypoplasia, Microphthalmia, Decreased testicular size	OMIM:309500
Holoprosencephaly 9	Anophthalmia, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Decreased response to growth...	OMIM:610829
Frontonasal Dysplasia 2	Bilateral cryptorchidism, Microphthalmia	OMIM:613451
Charge Syndrome	Bifid scrotum, Anophthalmia, Hypogonadotropic hypogonadism, Cryptorchidism, Horseshoe kidney, Mic...	ORPHA:138
Neuroocular Syndrome	Hypoplasia of the fovea, Cataract, Brushfield spots, Lens coloboma, Blue irides, Microcornea, Pet...	OMIM:619539
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Corneal crystals, Renal tubular dysfunction, Glycosuria, Abnormal cornea morph...	ORPHA:411629
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Bifid scrotum, Hypospadias, Cryptorchidism, Antecubital pterygium, Horseshoe kidney, Popliteal pt...	OMIM:609945
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Cryptorchidism, Renal hypoplasia, Renal cyst, Ambiguous genitalia, Microphthalmia	OMIM:616300
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Focal Dermal Hypoplasia	Ureteral duplication, Anophthalmia, Supernumerary nipple, Ectopia lentis, Cryptorchidism, Horsesh...	OMIM:305600
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Glo...	OMIM:617729
Mowat-Wilson Syndrome	Bifid scrotum, Cataract, Hypospadias, Supernumerary nipple, Cryptorchidism, Microcornea, Ectopia ...	OMIM:235730
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia, Cataract	ORPHA:306542
Degcags Syndrome	Hepatomegaly, Pancytopenia, Hypospadias, Congenital hypoplastic anemia, Abnormal renal medulla mo...	OMIM:619488
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Septate vagina, Uterus didelphys, Microphthalmia, Micropenis	OMIM:617925
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Opacification of the corneal stroma, Cardiomegaly	ORPHA:79280
Hereditary Acrokeratotic Poikiloderma	Abnormality of the urethra, Abnormal preputium morphology, Opacification of the corneal stroma, K...	ORPHA:2907
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Myhre Syndrome	Microphthalmia, Cataract, Cryptorchidism	OMIM:139210
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Holoprosencephaly 7	Microphthalmia, Bilateral microphthalmos, Panhypopituitarism, Iris coloboma	OMIM:610828
Fraser Syndrome	Hypoplasia of penis, Anophthalmia, Small scrotum, Hypospadias, Multicystic kidney dysplasia, Cryp...	ORPHA:2052
Osteogenesis Imperfecta	Hypercalciuria, Corneal opacity, Nephrolithiasis, Thrombocytopenia	ORPHA:666
Van Den Ende-Gupta Syndrome	Sclerocornea	OMIM:600920
Teebi-Shaltout Syndrome	Microphthalmia, Ureteral stenosis, Hydronephrosis, Horseshoe kidney	OMIM:272950
Branchiooculofacial Syndrome	Anophthalmia, Cataract, Hypospadias, Supernumerary nipple, Cryptorchidism, Renal cyst, Microphtha...	OMIM:113620
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Decreased testicular size, Multicystic kidney dysplasia, Opacification of the corneal stroma, Mic...	OMIM:615287
Neu-Laxova Syndrome 1	Cataract, Bifid uterus, Cryptorchidism, Microphthalmia, Pterygium	OMIM:256520
Monosomy 9P	Hypospadias, Cryptorchidism, Ambiguous genitalia, Microphthalmia, Ureteropelvic junction obstruction	ORPHA:261112
Hutchinson-Gilford Progeria Syndrome	Corneal ulceration, Corneal opacity, Female hypogonadism, Hypoplastic male external genitalia	ORPHA:740
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bifid scrotum, Urinary incontinence, Asplenia, Abnormal pupil morphology, Microcornea, Vesicouret...	ORPHA:261552
Hydrolethalus Syndrome 1	Accessory spleen, Hypospadias, Bifid uterus, Adrenal gland dysgenesis, Microphthalmia, Abnormal v...	OMIM:236680
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Witteveen-Kolk Syndrome	Cataract, Unilateral cryptorchidism, Decreased response to growth hormone stimulation test, Hypos...	OMIM:613406
Pallister-Hall Syndrome	Small scrotum, Ectopic kidney, Gonadotropin deficiency, Micropenis, Aplasia/hypoplasia of the ute...	ORPHA:672
Stuve-Wiedemann Syndrome 1	Opacification of the corneal stroma	OMIM:601559
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bifid scrotum, Multicystic kidney dysplasia, Cataract, Hypospadias, Urinary incontinence, Septate...	ORPHA:261537
Aicardi Syndrome	Precocious puberty, Microphthalmia, Hepatoblastoma	ORPHA:50
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Hypospadias, Optic nerve hypoplasia, Unilateral renal agenesis, Cryptorchidism, Bilateral microph...	ORPHA:468631
Microphthalmia With Limb Anomalies	Microphthalmia, True anophthalmia, Horseshoe kidney, Cryptorchidism	ORPHA:1106
Mowat-Wilson Syndrome	Bifid scrotum, Multicystic kidney dysplasia, Cataract, Hypospadias, Urinary incontinence, Septate...	ORPHA:2152
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia, Cataract, Sutural cataract, Nuclear pulverulent cataract	OMIM:612474
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Fontaine Progeroid Syndrome	Absent nipple, Small scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplastic nipples, Left...	OMIM:612289
Microphthalmia, Syndromic 1	Anophthalmia, Hypospadias, Hydroureter, Cryptorchidism, Renal hypoplasia, Microcornea, Ciliary bo...	OMIM:309800
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Hypospadias, Unilateral renal agenesis, Keratitis, Cryptorchidism, ...	OMIM:308205
Holoprosencephaly 2	Microphthalmia, Iris coloboma, Anterior pituitary agenesis	OMIM:157170
Adams-Oliver Syndrome 1	Microphthalmia, Imperforate hymen, Supernumerary nipple	OMIM:100300
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Yunis-Varon Syndrome	Absent nipple, Cataract, Hypospadias, Sclerocornea, Cryptorchidism, Hypoplastic nipples, Micropenis	OMIM:216340
8Q24.3 Microdeletion Syndrome	Ectopic posterior pituitary, Optic nerve hypoplasia, Unilateral renal agenesis, Bilateral microph...	ORPHA:508488
Treacher Collins Syndrome 1	Cryptorchidism, Bilateral microphthalmos, Abnormal parotid gland morphology	OMIM:154500
Holoprosencephaly 1	Microphthalmia, Micropenis	OMIM:236100
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Anophthalmia, Ectopic kidney, Vesicoureteral reflux, Limbal dermoid...	OMIM:164210
Neuroblastoma	Elevated urinary catecholamine level	ORPHA:635

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 Top2a

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Top2a.

No publications found that use IMPC mice or data for Top2a.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Top2a^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Top2a^em2(IMPC)Tcp	Exon Deletion	Mice, Tissue

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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