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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
corneal opacity	Top2a^em2(IMPC)Tcp	HET	Late adult	8.89×10^-06
abnormal kidney morphology	Top2a^em2(IMPC)Tcp	HET	Early adult	0.00
microphthalmia	Top2a^em2(IMPC)Tcp	HET	Late adult	0.00
abnormal cornea morphology	Top2a^em2(IMPC)Tcp	HET	Late adult	9.78×10^-06
abnormal liver morphology	Top2a^em2(IMPC)Tcp	HET	Late adult	0.00
abnormal seminal vesicle morphology	Top2a^em2(IMPC)Tcp	HET	Late adult	0.00
increased mean corpuscular volume	Top2a^em2(IMPC)Tcp	HET	Early adult	8.43×10^-06
prenatal lethality prior to heart atrial septation	Top2a^em2(IMPC)Tcp	HOM	E15.5	0.00
abnormal skin morphology	Top2a^em2(IMPC)Tcp	HET	Late adult	0.00
cataract	Top2a^em2(IMPC)Tcp	HET	Late adult	5.94×10^-07
preweaning lethality, complete penetrance	Top2a^em2(IMPC)Tcp	HOM	Early adult	0.00
increased circulating alkaline phosphatase level	Top2a^em2(IMPC)Tcp	HET	Early adult	3.71×10^-14
small spleen	Top2a^em2(IMPC)Tcp	HET	Late adult	0.00
abnormal lens morphology	Top2a^em2(IMPC)Tcp	HET	Late adult	4.41×10^-07
embryonic lethality prior to organogenesis	Top2a^em2(IMPC)Tcp	HOM	E9.5	0.00
enlarged urinary bladder	Top2a^em2(IMPC)Tcp	HET	Late 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	2.56×10^-06

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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.

Histopathology

Images

1 Images

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Eye Morphology

Images Ophthalmoscopy

164 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

33 Images

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Gross Pathology and Tissue Collection

Images

6 Images

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Gross Pathology and Tissue Collection

Images

9 Images

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Histopathology

Images

17 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

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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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

8 Images

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Combined SHIRPA and Dysmorphology

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 (809 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, Anemia, Elevated urinary vanillylmandelic acid, Elevated ur...	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	Anemia, Hypochromia, Sideroblastic anemia, Decreased mean corpuscular volume, Elevated transferri...	OMIM:205950
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration, Abnor...	ORPHA:2843
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Muscle Cramps, Familial	Elevated circulating creatine kinase concentration	OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Elevated circulating creatine kinase concentration	ORPHA:206599
Cramps, Familial Adolescent	Elevated circulating creatine kinase concentration	OMIM:218050
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Hepatomegaly, Corneal opacity, Microphthalmia	ORPHA:2432
Intrinsic Factor Deficiency	Reduced haptoglobin level, Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic...	OMIM:261000
Microphthalmia, Isolated, With Cataract 1	Cataract, Microphthalmia	OMIM:156850
Anemia, Hypochromic Microcytic, With Iron Overload 1	Anemia, Hypochromia, Elevated hepatic iron concentration, Increased circulating iron concentratio...	OMIM:206100
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu...	OMIM:616689
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal dystrophy, Corneal opacity	OMIM:609140
Corneal Dystrophy, Endothelial, X-Linked	Band keratopathy, Corneal dystrophy, Corneal opacity	OMIM:300779
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract, 3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Bilateral Striopallidodentate Calcinosis	Abnormality of the liver, Thrombocytopenia, Hepatomegaly, Corneal opacity	ORPHA:1980
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract, Hepatomegaly	ORPHA:79281
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract, Cryptorchidism	OMIM:274205
Cataract-Microcornea Syndrome	Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma	ORPHA:1377
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal dystrophy, Corneal opacity	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	Hyperkalemia, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stom...	ORPHA:90044
Diamond-Blackfan Anemia 3	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia...	OMIM:619041
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Microphthalmia/Coloboma 4	Microcornea, Microphthalmia	OMIM:251505
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula...	ORPHA:3202
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin	ORPHA:231249
Cataract 9, Multiple Types	Microphthalmia, Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma	OMIM:604219
Glaucoma 3, Primary Congenital, D	Primary congenital glaucoma, Ectopia lentis, Corneal opacity	OMIM:613086
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Corneal Dystrophy, Groenouw Type I	Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy	OMIM:121900
Cataract 11, Multiple Types	Cataract, Microphthalmia, Developmental cataract	OMIM:610623
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
Galactosemia Iv	Cataract, Prolonged neonatal jaundice, Hepatomegaly	OMIM:618881
Microphthalmia/Coloboma 3	Cataract, Microphthalmia, Iris coloboma	OMIM:610092
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:3177
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut...	OMIM:616216
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	Cataract	ORPHA:73245
Cataract 21, Multiple Types	Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, Cerulean cataract, M...	OMIM:610202
Congenital Dyserythropoietic Anemia Type Iii	Increased total iron binding capacity, Anemia, Increased mean corpuscular volume, Hyperbilirubine...	ORPHA:98870
X-Linked Retinoschisis	Cataract	ORPHA:792
Microphthalmia, Isolated 2	Opacification of the corneal stroma, Microphthalmia	OMIM:610093
Galactosialidosis	Corneal opacity	ORPHA:351
Bone Marrow Failure And Diabetes Mellitus Syndrome	Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia	OMIM:620044
Galactosemia Ii	Cataract, Prolonged neonatal jaundice, Galactosuria	OMIM:230200
Anterior Segment Dysgenesis 7	Ocular anterior segment dysgenesis, Microphthalmia, Microcornea, Corneal opacity, Sclerocornea, C...	OMIM:269400
Microcephaly-Microcornea Syndrome, Seemanova Type	Cataract, Microcornea, Microphthalmia, Hypogonadism	ORPHA:2528
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Macrocytic anemia, Neutropenia	OMIM:612563
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anemia, Hypochromia, Elevated hepatic iron concentration, Anisocytosis, Hepatosplenomegaly, Splen...	OMIM:616860
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract	OMIM:300719
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Anemia, Hypochromic Microcytic, With Iron Overload 2	Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron concentration, S...	OMIM:615234
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia, Hematuria, Corneal opacity, Posterior embryotoxon, Cataract, Iris coloboma	ORPHA:1473
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Anterior Segment Dysgenesis 8	Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,...	OMIM:617319
Foveal Hypoplasia 2	Microphthalmia, Astigmatism, Axenfeld anomaly, Posterior embryotoxon, Hypoplasia of the fovea	OMIM:609218
Cornea Plana 2, Autosomal Recessive	Corneal arcus, Microphthalmia, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat c...	OMIM:217300
Nathalie Syndrome	Cataract	ORPHA:2663
Spastic Paraparesis And Deafness	Cataract, Hypogonadism	OMIM:312910
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:300946
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract	ORPHA:2253
Peroxisome Biogenesis Disorder 10A (Zellweger)	Cataract, Hepatomegaly	OMIM:614882
Overhydrated Hereditary Stomatocytosis	Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Stomatocyto...	OMIM:185000
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Hepatomegaly, Ectopic kidney, Cataract, Cryptorchidism, Cystic renal dysplasia	OMIM:613730
Morquio Syndrome C	Corneal opacity	OMIM:252300
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Anemia, Hematuria, Increased mean corpuscular volume, Sideroblastic anemia, Thrombocytopenia, Hyp...	OMIM:617021
Lattice Corneal Dystrophy Type I	Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification...	ORPHA:98964
Corneal Dystrophy, Epithelial Basement Membrane	Recurrent corneal erosions, Corneal dystrophy, Map-dot-fingerprint corneal dystrophy	OMIM:121820
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Microphthalmia, Hematuria, Iris coloboma	OMIM:120433
Galactose Epimerase Deficiency	Jaundice, Hepatomegaly, Splenomegaly, Cataract, Aminoaciduria	ORPHA:79238
Thiel-Behnke Corneal Dystrophy	Recurrent corneal erosions, Astigmatism, Subepithelial corneal opacities, Central corneal dystrop...	ORPHA:98960
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v...	ORPHA:3203
Microphthalmia/Coloboma 10	Anophthalmia, Microphthalmia, Microcoria, Iris coloboma	OMIM:616428
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Trichomegaly	Cataract	OMIM:190330
X-Linked Corneal Dermoid	Corneal opacity, Abnormal pupil morphology	ORPHA:1661
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Corneal opacity, Lymphadenopathy	ORPHA:79292
Ring Dermoid Of Cornea	Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnormal con...	OMIM:180550
Anterior Segment Dysgenesis 5	Microphthalmia, Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel...	OMIM:604229
Congenital Rubella Syndrome	Microphthalmia, Jaundice, Hepatomegaly, Anemia, Corneal opacity, Thrombocytopenia, Splenomegaly, ...	ORPHA:290
Winchester Syndrome	Corneal opacity	OMIM:277950
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, External genital hypoplasia, Hypogonadism, Cataract, Cryptorchidism	ORPHA:363741
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypospadias, Corneal opacity, Developmental cataract, Cryptorchidism, Micropenis	OMIM:618815
Thanatophoric Dysplasia, Glasgow Variant	Cataract, Anemia, Hepatosplenomegaly	OMIM:273680
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Central Cloudy Dystrophy Of Francois	Corneal dystrophy, Central corneal dystrophy	OMIM:217600
Autosomal Dominant Keratitis	Corneal neovascularization, Bilateral microphthalmos, Aniridia, Limbal stem cell deficiency, Micr...	ORPHA:2334
Anterior Segment Dysgenesis 2	Microphthalmia, Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of e...	OMIM:610256
Congenital Varicella Syndrome	Cataract, Microphthalmia	ORPHA:291
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia	OMIM:618849
Macular Dystrophy, Corneal	Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea	OMIM:217800
Microphthalmia, Isolated 6	Microcornea, Microphthalmia	OMIM:613517
Microphthalmia/Coloboma 7	Microphthalmia, Iris coloboma	OMIM:614497
Spastic Paraparesis-Deafness Syndrome	Cataract, Hypogonadism	ORPHA:2815
Xeroderma Pigmentosum, Complementation Group G	Cataract, Microphthalmia	OMIM:278780
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Cataract	OMIM:618463
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Hurler-Scheie Syndrome	Abnormality of the tonsils, Hepatomegaly, Corneal opacity, Splenomegaly	ORPHA:93476
Genetic Hyperferritinemia Without Iron Overload	Cataract	ORPHA:254704
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Peroxisome Biogenesis Disorder 8A (Zellweger)	Cataract, Elevated circulating aspartate aminotransferase concentration, Jaundice, Hepatomegaly	OMIM:614876
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cataract, Microphthalmia, Cryptorchidism, Hypogonadism	OMIM:601794
Spinocerebellar Ataxia, Autosomal Recessive 24	Cataract	OMIM:617133
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Microphthalmia, Syndromic 16	Microphthalmia, Sclerocornea, Anophthalmia	OMIM:611038
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hyperhomocystinemia, Increased mean corpuscular volume, Homocystinuria, M...	OMIM:277410
Keratitis, Hereditary	Opacification of the corneal stroma, Keratitis	OMIM:148190
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concent...	OMIM:618805
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Microphthalmia, Anophthalmia, Iris coloboma	OMIM:611638
Bardet-Biedl Syndrome 18	Cataract, Stage 5 chronic kidney disease, Renal insufficiency	OMIM:615995
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Hypokalemia, Distal renal tubular acidosis, Reticulocytosis, Nephrocalcinosis, Hepat...	OMIM:611590
Sickle Cell Anemia	Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis...	ORPHA:232
Corneal Dystrophy And Perceptive Deafness	Opacification of the corneal stroma, Corneal dystrophy	OMIM:217400
Elliptocytosis 3	Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia, Decreased mean corpuscular volume	OMIM:617948
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Corneal Dystrophy, Reis-Bucklers Type	Opacification of the corneal stroma, Corneal dystrophy, Corneal opacity, Corneal erosion	OMIM:608470
Syndromic Recessive X-Linked Ichthyosis	Acute leukemia, Unilateral renal agenesis, Corneal opacity, Testicular seminoma, Hypogonadism, Cr...	ORPHA:281090
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract, Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase activity	OMIM:618660
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypospadias, Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Cryptorchidism	ORPHA:1381
Xp22.3 Microdeletion Syndrome	Aplasia/Hypoplasia affecting the eye, Opacification of the corneal stroma, Polycystic ovaries, Hy...	ORPHA:1643
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Ocular anterior segment dysgenesis, Peters anomaly, Microphthalmia, Iris coloboma	OMIM:610023
Microphthalmia, Syndromic 13	Microcornea, Microphthalmia, Iris coloboma	OMIM:300915
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytopenia, Pancytopenia	OMIM:613839
Methylcobalamin Deficiency Type Cble	Hemolytic-uremic syndrome, Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Hy...	ORPHA:2169
Sialidosis Type 2	Hepatomegaly, Corneal opacity, Splenomegaly, Nephropathy	ORPHA:87876
Ichthyosis, X-Linked	Testicular neoplasm, Opacification of the corneal stroma, Cryptorchidism	OMIM:308100
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anisopoikilocytosis, Anemia, Decreased transferrin saturation, Reticulocytopenia, Elevated hepati...	ORPHA:300298
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Microcornea, Cataract, Cryptorchidism, Micr...	OMIM:610125
Microphthalmia, Syndromic 8	Microcornea, Microphthalmia, Cryptorchidism	OMIM:601349
Megalocornea	Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy...	OMIM:309300
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract, Renal tubular dysfunction	ORPHA:1380
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Galactose Mutarotase Deficiency	Cataract, Hepatomegaly, Cholestasis, Decreased liver function	ORPHA:570422
Gómez-López-Hernández Syndrome	Corneal opacity	ORPHA:1532
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cataract, Microcornea, Microphthalmia	OMIM:616171
Refractory Anemia With Excess Blasts	Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ...	ORPHA:86839
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia, Microcornea, Sclerocornea, Cataract, Cryptorchidism, Iris coloboma	ORPHA:139471
Erythrokeratodermia Variabilis	Cataract, Corneal opacity, Abnormal testis morphology	ORPHA:317
2Q24 Microdeletion Syndrome	Abnormality iris morphology, Microphthalmia, Cataract	ORPHA:1617
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia	OMIM:612561
Idiopathic Uveal Effusion Syndrome	Microphthalmia, Abnormal anterior eye segment morphology	ORPHA:209956
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract, Hypogonadism	OMIM:254000
Congenital Hereditary Endothelial Dystrophy Type Ii	Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Increased corneal ...	ORPHA:293603
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Ocular anterior segment dysgenesis, Microphthalmia, Developmental cataract	ORPHA:324416
Cataract 47	Cataract, Glycosuria, Microcornea	OMIM:612018
Morm Syndrome	Cataract, Micropenis	ORPHA:75858
Corneal Dystrophy, Posterior Polymorphous, 1	Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma...	OMIM:122000
Microphthalmia, Isolated 5	Cataract, Microphthalmia	OMIM:611040
Peroxisome Biogenesis Disorder 11B	Cataract, Hepatosplenomegaly	OMIM:614885
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Keratoendotheliitis Fugax Hereditaria	Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis	OMIM:148200
Peters Anomaly	Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De...	ORPHA:708
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cataract, Cryptorchidism	ORPHA:2489
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Corneal opacity	ORPHA:2370
Hypogonadism-Cataract Syndrome	Cataract, Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogonadism	OMIM:240950
Warburg Micro Syndrome 1	Microphthalmia, External genital hypoplasia, Microcornea, Developmental cataract, Cryptorchidism	OMIM:600118
Hereditary Bullous Dystrophy, Macular Type	External genital hypoplasia, Corneal opacity, Decreased testicular size, Cataract, Cryptorchidism	ORPHA:1867
Nathalie Syndrome	Cataract	OMIM:255990
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Microphthalmia, Decreased pineal volume, Focal segmental glomerulosclerosis, Nephrotic syndrome, ...	OMIM:301108
Cofs Syndrome	Cataract, Microphthalmia, Hypogonadism	ORPHA:1466
Gombo Syndrome	Microphthalmia	OMIM:233270
Norrie Disease	Microphthalmia, Buphthalmos, Corneal opacity, Hypoplasia of the iris, Shallow anterior chamber, L...	OMIM:310600
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Microcornea, Aniridia	OMIM:106230
Iris Pigment Layer, Cleavage Of	Cataract	OMIM:147610
Microphthalmia, Isolated 4	Microphthalmia, Absent testis	OMIM:613094
Congenital Fibrinogen Deficiency	Microphthalmia, Hemorrhagic ovarian cyst, Decreased testicular size, Splenic rupture, Development...	ORPHA:335
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Microcornea, Microphthalmia, Iris coloboma	ORPHA:231736
Immunodeficiency 96	Increased mean corpuscular volume, Increased proportion of gamma-delta T cells, Multicystic kidne...	OMIM:619774
Alpha-Mannosidosis	Cataract, Hepatomegaly, Corneal opacity, Splenomegaly	ORPHA:61
Laurence-Moon Syndrome	Hypoplasia of penis, Congenital hepatic fibrosis, Displacement of the urethral meatus, Cataract, ...	ORPHA:2377
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Elevated circulating hepcidin concentration, Anisocytosis, Hypochromic microcytic...	OMIM:206200
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Corneal neovascularization, Cornea verticillata, Corneal...	ORPHA:171673
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Microphthalmia, Corneal opacity, Left ventricular hypertrophy	OMIM:613153
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia, Shallow anterior chamber	OMIM:267760
Mucolipidosis Type Iii	Corneal opacity	ORPHA:577
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Small scrotum, Developmental cataract, Cataract, Micropenis	OMIM:610756
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Cataract, Aminoaciduria	ORPHA:2278
Granular Corneal Dystrophy Type Ii	Recurrent corneal erosions, Granular corneal dystrophy, Central opacification of the cornea, Sube...	ORPHA:98963
Majeed Syndrome	Anemia of inadequate production, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid...	OMIM:609628
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Cataract, Abnormality of the ovary, Hypogonadism, Decreased testicular size	ORPHA:1875
Congenital Primary Aphakia	Microphthalmia, Developmental glaucoma, Aniridia, Aplasia/Hypoplasia affecting the anterior segme...	ORPHA:83461
Leber Congenital Amaurosis 7	Cataract, Keratoconus	OMIM:613829
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia, Astigmatism, Myopic astigmatism, Microcornea, Corneal opacity, Cataract	OMIM:152950
Fuchs Endothelial Corneal Dystrophy	Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology, Reduced number of...	ORPHA:98974
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Microphthalmia, Microcornea, Corneal opacity, Persistent pupillary membrane, Phthisis bulbi, Shal...	OMIM:221900
Wagr Syndrome	Displacement of the urethral meatus, Cataract, Ambiguous genitalia, Aplasia/Hypoplasia of the iri...	ORPHA:893
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Cataract, Micropenis	OMIM:610156
Bartsocas-Papas Syndrome 2	Popliteal pterygium, Axillary pterygium, Microphthalmia, Corneal opacity, Antecubital pterygium	OMIM:619339
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma, Cryptorchidism	ORPHA:461
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	3-Methylglutaconic aciduria, Optic nerve hypoplasia, Corneal opacity, Cataract, Cryptorchidism	ORPHA:496790
Coats Disease	Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris	ORPHA:190
Wilson Disease	Cirrhosis, Jaundice, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentratio...	ORPHA:905
Gracile Bone Dysplasia	Microphthalmia, Aniridia, Asplenia, Hypoplastic spleen, Micropenis	OMIM:602361
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal degeneration, Corneal stromal edema, Corneal dystrophy, Descemet Membrane Folds, Corneal ...	OMIM:136800
Mucolipidosis Iv	Opacification of the corneal stroma, Corneal opacity	OMIM:252650
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cataract, Microcornea, Microphthalmia, Hypogonadotropic hypogonadism	ORPHA:48431
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Vesicoureteral reflux, Horseshoe kidney, Ne...	OMIM:612562
Anterior Segment Dysgenesis 6	Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m...	OMIM:617315
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ...	OMIM:616959
Senior-Loken Syndrome	Nephronophthisis, Congenital hepatic fibrosis, Chronic kidney disease, Cataract, Stage 5 chronic ...	ORPHA:3156
3-Methylglutaconic Aciduria Type 4	Decreased liver function, 3-Methylglutaconic aciduria, Iris hypopigmentation, Thrombocytopenia, C...	ORPHA:67048
Scheie Syndrome	Mucopolysacchariduria, Hepatomegaly, Corneal opacity, Splenomegaly	ORPHA:93474
Exfoliation Syndrome	Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes...	OMIM:177650
Brachyolmia Type 1, Hobaek Type	Opacification of the corneal stroma, Corneal opacity	OMIM:271530
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Microphthalmia, Corneal scarring, Cataract, Buphthalmos, Iris coloboma	OMIM:212550
Congenital Toxoplasmosis	Microphthalmia, Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Elevated circulating hepatic tra...	ORPHA:858
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Cataract, Microphthalmia	OMIM:251270
Aniridia-Intellectual Disability Syndrome	Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia	ORPHA:1068
Posterior Polymorphous Corneal Dystrophy	Astigmatism, Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Incre...	ORPHA:98973
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Hypospadias, Hypoplasia of penis, Anophthalmia, Sclerocornea, Cryptorchidism, Iri...	ORPHA:77298
Granular Corneal Dystrophy Type I	Recurrent corneal erosions, Abnormal corneal epithelium morphology, Central opacification of the ...	ORPHA:98962
Mevalonic Aciduria	Cataract, Splenomegaly	ORPHA:29
Pierpont Syndrome	Microcornea, Microphthalmia, Cryptorchidism	ORPHA:487825
Microphthalmia/Coloboma 12	Microphthalmia, Vesicoureteral reflux, Corneal opacity, Optic nerve aplasia, Peters anomaly	OMIM:120200
Mmep Syndrome	Microphthalmia, Cryptorchidism	ORPHA:3434
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Cataract, Corneal dystrophy	ORPHA:1369
Epithelial Recurrent Erosion Dystrophy	Recurrent corneal erosions, Corneal dystrophy, Subepithelial corneal opacities, Corneal scarring,...	ORPHA:293381
Brittle Cornea Syndrome 2	Keratoglobus, Keratoconus, Decreased corneal thickness, Megalocornea, Sclerocornea, Flat cornea, ...	OMIM:614170
Persistent Hyperplastic Primary Vitreous	Microphthalmia, Microcornea, Corneal opacity, Persistent pupillary membrane, Phthisis bulbi, Shal...	ORPHA:91495
Isolated Aniridia	Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly, Aniridia	ORPHA:250923
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Corneal opacity, Isosexual precocious puberty	ORPHA:2788
Lcat Deficiency	Acute kidney injury, Decreased glomerular filtration rate, Corneal opacity, Proteinuria, Stage 5 ...	ORPHA:650
Alpha-Mannosidosis, Adult Form	Pancytopenia, Corneal opacity, Hepatosplenomegaly, Cataract, Oligosacchariduria	ORPHA:309288
Leber Congenital Amaurosis 6	Cataract, Keratoconus	OMIM:613826
Galactosemia I	Decreased liver function, Cirrhosis, Hepatomegaly, Galactosuria, Elevated circulating alanine ami...	OMIM:230400
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Abnormal T cell morphology, Nephrotic syndrome, Mucopolysacchariduria, Macronodular cirrhosis, Pr...	OMIM:215250
Pierpont Syndrome	Microcornea, Microphthalmia, Micropenis, Cryptorchidism	OMIM:602342
Cat-Eye Syndrome	Microphthalmia, Hydronephrosis, Iris coloboma	ORPHA:195
Gm1-Gangliosidosis, Type Iii	Opacification of the corneal stroma, Hepatomegaly, Splenomegaly	OMIM:230650
Retinitis Pigmentosa 40	Cataract	OMIM:613801
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Thrombocytopenia, Splenomegaly	OMIM:620367
Multiple Sulfatase Deficiency	Hepatomegaly, Corneal opacity, Mucopolysacchariduria, Splenomegaly, Cataract	ORPHA:585
Developmental Delay With Variable Neurologic And Brain Abnormalities	Cataract, Microphthalmia, Astigmatism	OMIM:619694
Sialidosis Type 1	Corneal opacity, Urinary excretion of sialylated oligosaccharides, Splenomegaly, Cataract, Aminoa...	ORPHA:812
Zellweger Syndrome	Clitoral hypertrophy, Jaundice, Hepatomegaly, Hypospadias, Corneal opacity, Posterior embryotoxon...	ORPHA:912
Fish-Eye Disease	Opacification of the corneal stroma	OMIM:136120
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Cataract, Microcornea	OMIM:619082
Shwachman-Diamond Syndrome	Aplastic anemia, Normocytic anemia, Anemia, Acute myeloid leukemia, Macrocytic anemia, Pancytopen...	ORPHA:811
Hemochromatosis, Type 4	Cirrhosis, Hepatomegaly, Anemia, Cataract, Hepatic steatosis	OMIM:606069
Juvenile Sialidosis Type 2	Hepatomegaly, Visceromegaly, Corneal opacity, Hepatosplenomegaly, Cataract	ORPHA:93399
Leber Congenital Amaurosis 1	Cataract, Keratoconus, Hepatomegaly, Hyperthreoninuria	OMIM:204000
Macular Corneal Dystrophy	Recurrent corneal erosions, Decreased corneal thickness, Punctate opacification of the cornea, Hy...	ORPHA:98969
Aniridia 2	Cataract, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Nance-Horan Syndrome	Cataract, Microcornea, Microphthalmia	ORPHA:627
Rodrigues Blindness	Microcornea, Microphthalmia, Sclerocornea	OMIM:268320
8Q21.11 Microdeletion Syndrome	Microphthalmia, Hypoplasia of penis, Corneal opacity, Iris hypopigmentation, Sclerocornea, Catara...	ORPHA:284160
Bilateral Acute Depigmentation Of The Iris	Abnormal anterior chamber morphology, Abnormal corneal endothelium morphology, Iris pigment dispe...	ORPHA:69736
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia, Corneal dystrophy, Microcornea, Sclerocornea, Cataract, Keratoconjunctivitis sicca	ORPHA:1806
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Cataract, Ambiguous genitalia, Microphthalmia	ORPHA:93267
Warburg Micro Syndrome 2	Microphthalmia, Small scrotum, Microcornea, Developmental cataract, Cataract, Cryptorchidism, Mic...	OMIM:614225
Walker-Warburg Syndrome	Microphthalmia, Anophthalmia, Hypoplasia of penis, Microcornea, Corneal opacity, Cataract, Crypto...	ORPHA:899
Anterior Segment Dysgenesis 1	Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c...	OMIM:107250
Congenital Sialidosis Type 2	Hepatomegaly, Corneal opacity, Developmental cataract, Hepatosplenomegaly, Hypoplasia of the fove...	ORPHA:93400
Neurooculocardiogenitourinary Syndrome	Cardiomegaly, Microphthalmia, Peters anomaly, Bilateral cryptorchidism	OMIM:618652
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,...	ORPHA:67043
Multicentric Carpotarsal Osteolysis Syndrome	Stage 5 chronic kidney disease, Corneal opacity, Proteinuria, Renal insufficiency	OMIM:166300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cataract, Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Hypospadias, Anophthalmia, Microcornea, Precocious puberty, Sclerocornea, Ectopia...	OMIM:615877
Bone Marrow Failure Syndrome 3	Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume,...	OMIM:617052
Galactosialidosis	Conjunctival telangiectasia, Opacification of the corneal stroma, Visceromegaly, Hepatosplenomegaly	OMIM:256540
Microphthalmia/Coloboma 9	Ocular anterior segment dysgenesis, Microphthalmia, Microcornea, Sclerocornea, Iris coloboma	OMIM:615145
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Warburg Micro Syndrome 3	Microphthalmia, Small scrotum, Microcornea, Hypoplastic labia minora, Decreased testicular size, ...	OMIM:614222
Harel-Yoon Syndrome	Developmental cataract, Corneal opacity	OMIM:617183
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Developmental cataract	OMIM:613155
Beta-Thalassemia Intermedia	Abnormality of iron homeostasis, Proximal tubulopathy, Anemia of inadequate production, Leukocyto...	ORPHA:231222
Warburg Micro Syndrome 4	Microphthalmia, Microcornea, Decreased testicular size, Developmental cataract, Small scrotum, Cr...	OMIM:615663
Lissencephaly 8	Cataract, Microphthalmia	OMIM:617255
Rutherfurd Syndrome	Opacification of the corneal stroma, Corneal dystrophy	OMIM:180900
Diamond-Blackfan Anemia	Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt...	ORPHA:124
Microphthalmia, Syndromic 12	Microphthalmia, Cryptorchidism, Bicornuate uterus, Anophthalmia	OMIM:615524
Aniridia-Absent Patella Syndrome	Cataract, Cryptorchidism, Aniridia	ORPHA:1069
Meckel Syndrome	Microphthalmia, Ureteral duplication, Multicystic kidney dysplasia, Accessory spleen, Anophthalmi...	ORPHA:564
Combined Oxidative Phosphorylation Deficiency 47	Cataract, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cryptorchidism	OMIM:618958
Bresek Syndrome	Microphthalmia, Optic nerve hypoplasia, Vesicoureteral reflux, Decreased testicular size, Renal h...	ORPHA:85284
Hypergonadotropic Hypogonadism-Cataract Syndrome	Cataract, Increased circulating gonadotropin level, Secondary growth hormone deficiency, Hypergon...	ORPHA:2410
Stromme Syndrome	Microphthalmia, Accessory spleen, Optic nerve hypoplasia, Microcornea, Hydronephrosis, Sclerocorn...	OMIM:243605
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Wagro Syndrome	Hypoplastic female external genitalia, Aniridia, Corneal opacity, Decreased testicular size, Prot...	OMIM:612469
Nanophthalmos	Microphthalmia	ORPHA:35612
X-Linked Immunoneurologic Disorder	Cataract, Functional abnormality of the bladder	ORPHA:2571
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal stromal edema, Corneal dystrophy, Corneal guttata, Abnormal Descemet membrane morphology,...	OMIM:613270
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Astigmatism, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypospadias, ...	OMIM:301056
Sanjad-Sakati Syndrome	Astigmatism, Hypoparathyroidism, Congenital hypoparathyroidism, Hypoplasia of penis, Corneal opac...	ORPHA:2323
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Matthew-Wood Syndrome	Annular pancreas, Microphthalmia, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Vesicouretera...	ORPHA:2470
Joubert Syndrome 9	Cataract, Hepatic fibrosis, Astigmatism, Stage 5 chronic kidney disease	OMIM:612285
Ophthalmomandibulomelic Dysplasia	Corneal opacity, Megalocornea	ORPHA:2741
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Fanconi Anemia, Complementation Group G	Microphthalmia, Anemia, Thrombocytopenia, Leukemia, Neutropenia	OMIM:614082
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Unilateral renal agenesis, Developmental glaucoma, Corneal opacity, Aniridia	ORPHA:1064
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Increased mean corpuscular volume, Leukopenia, Thrombocytopenia, Lymphop...	OMIM:127550
Biemond Syndrome Type 2	Microphthalmia, Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism	ORPHA:141333
Hurler-Scheie Syndrome	Hepatomegaly, Corneal opacity, Dermatan sulfate excretion in urine, Splenomegaly, Heparan sulfate...	OMIM:607015
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2	Cataract, Nephrotic syndrome, Focal segmental glomerulosclerosis	OMIM:620425
Peroxisome Biogenesis Disorder 2A (Zellweger)	Clitoral hypertrophy, Jaundice, Hepatomegaly, Intrahepatic biliary dysgenesis, Polycystic kidney ...	OMIM:214110
Corneal Dystrophy, Fuchs Endothelial, 2	Corneal degeneration, Corneal dystrophy, Corneal guttata	OMIM:610158
Trisomy 13	Microphthalmia, Anophthalmia, Abnormality of the ureter, Hydronephrosis, Displacement of the uret...	ORPHA:3378
Usher Syndrome Type 3	Cataract, Iris hypopigmentation, Astigmatism	ORPHA:231183
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Microcornea, Septo-optic dysplasia, Vaginal atresia, Cataract, Cryptorchidism, Mu...	ORPHA:3301
Oculomaxillofacial Dysostosis	Aplasia/Hypoplasia affecting the eye, Corneal opacity	ORPHA:1794
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos, Corneal opacity, Conjunctival hyperemia, Cataract	ORPHA:2399
Congenital Disorder Of Glycosylation, Type Iq	Cataract, Microphthalmia, Elevated circulating hepatic transaminase concentration, Microcytic anemia	OMIM:612379
Oculoauricular Syndrome	Microphakia, Ocular anterior segment dysgenesis, Microphthalmia, Iris cyst, Microcornea, Posterio...	OMIM:612109
Oculocerebral Hypopigmentation Syndrome, Cross Type	Anemia, Corneal opacity, Ureteral stenosis, Aplasia/Hypoplasia affecting the eye, Iris hypopigmen...	ORPHA:2719
Galactokinase Deficiency	Hepatomegaly, Hypergonadotropic hypogonadism, Increased level of galactitol in urine, Hepatosplen...	ORPHA:79237
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Triploidy	Hepatomegaly, Abnormality of the gallbladder, Hypospadias, Hypoplasia of penis, Aplasia/Hypoplasi...	ORPHA:3376
Trichothiodystrophy 3, Photosensitive	Microphthalmia, Bilateral cryptorchidism, Developmental cataract, Lymphopenia, Cataract, Neutropenia	OMIM:616395
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Anemia, Unilateral microphthalmos, Thrombocytopenia, Splenomegaly	OMIM:615085
Pseudo-Torch Syndrome 1	Decreased liver function, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conce...	OMIM:251290
Aniridia 3	Cataract, Aniridia	OMIM:617142
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Hypospadias, Microcornea, Abnormal scrotum morphology, Small scrotum, Cryptorchidism	ORPHA:2505
Vitreoretinochoroidopathy	Microcornea, Microphthalmia, Developmental cataract, Pulverulent cataract	OMIM:193220
Mosaic Trisomy 9	Microphthalmia, Hypoplastic female external genitalia, Abnormal liver lobulation, Abnormal fallop...	ORPHA:99776
Cataract 1, Multiple Types	Posterior subcapsular cataract, Nuclear cataract, Microcornea, Pulverulent cataract	OMIM:116200
Nanophthalmos 4	Microphthalmia	OMIM:615972
Fucosidosis	Abnormality of the gallbladder, Hepatomegaly, Corneal opacity, Mucopolysacchariduria, Cardiomegaly	ORPHA:349
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Cataract, Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis	ORPHA:2772
Cataract 48	Cataract	OMIM:618415
Frontofacionasal Dysplasia	Microphthalmia, Microcornea, Brushfield spots, Cataract, Limbal dermoid, Iris coloboma	ORPHA:1791
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Carpenter Syndrome	External genital hypoplasia, Abnormal cornea morphology, Cryptorchidism, Abnormal reproductive sy...	ORPHA:65759
Multiple Sulfatase Deficiency	Mucopolysacchariduria, Hepatomegaly, Corneal opacity, Splenomegaly	OMIM:272200
Mietens Syndrome	Cataract, Microcornea, Sclerocornea, Corneal opacity	ORPHA:2557
Brachyolmia Type 1, Toledo Type	Opacification of the corneal stroma, Increased urinary disaccharide excretion	OMIM:271630
Aniridia 1	Corneal neovascularization, Macular agenesis, Aniridia, Corneal erosion, Optic nerve hypoplasia, ...	OMIM:106210
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Myopia 28, Autosomal Recessive	Cataract	OMIM:619781
Lowry-Maclean Syndrome	Developmental glaucoma, Hypospadias, Corneal opacity, Abnormality of the abdominal organs, Megalo...	ORPHA:2409
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Cataract, Iris transillumination defect, Microcornea, Microphthalmia	OMIM:617306
Temtamy Syndrome	Microphthalmia, Iris coloboma	ORPHA:1777
Atopic Keratoconjunctivitis	Corneal neovascularization, Corneal opacity, Corneal scarring, Chemosis, Conjunctival hyperemia, ...	ORPHA:163934
Neuraminidase Deficiency	Hepatomegaly, Cardiomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Urinary excretion of ...	OMIM:256550
Micro Syndrome	Microphthalmia, Hypoplasia of penis, Microcornea, Hypoplastic labia minora, Clitoral hypoplasia, ...	ORPHA:2510
Myopia, High, With Cataract And Vitreoretinal Degeneration	Cataract, Lens subluxation	OMIM:614292
Corneal Dystrophy, Thiel-Behnke Type	Juvenile epithelial corneal dystrophy, Corneal dystrophy, Corneal scarring	OMIM:602082
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Uraciluria, Elevated urinary dihydrothymine level	OMIM:274270
Refsum Disease	Cataract, Microphthalmia, Renal insufficiency, Splenomegaly	ORPHA:773
Encephalocraniocutaneous Lipomatosis	Microphthalmia, Pelvic kidney, Hypoplasia of the iris, Hydronephrosis, Sclerocornea, Limbal dermo...	OMIM:613001
Short Syndrome	Abnormal anterior chamber morphology, Corneal opacity, Megalocornea, Hypoplasia of the iris, Post...	ORPHA:3163
Rere-Related Neurodevelopmental Syndrome	Microphthalmia, Astigmatism, Hypospadias, Vesicoureteral reflux, Cryptorchidism, Peters anomaly, ...	ORPHA:494344
Spondylo-Ocular Syndrome	Cataract, Iris hypopigmentation, Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:85194
Mucopolysaccharidosis Type 7	Mucopolysacchariduria, Corneal opacity, Splenomegaly, Hepatitis	ORPHA:584
Nance-Horan Syndrome	Microcornea, Posterior Y-sutural cataract, Developmental cataract, Microphthalmia	OMIM:302350
Ectopia Lentis Et Pupillae	Iris transillumination defect, Persistent pupillary membrane, Ectopia lentis, Ectopia pupillae, C...	OMIM:225200
Cystinosis	Renal insufficiency, Corneal opacity, Portal hypertension, Proteinuria, Nephropathy, Aminoaciduri...	ORPHA:213
Sjogren-Larsson Syndrome	Opacification of the corneal epithelium, Astigmatism	OMIM:270200
Bartsocas-Papas Syndrome	Popliteal pterygium, Hypoplastic male external genitalia, Ambiguous genitalia, Corneal opacity	ORPHA:1234
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Corneal opacity	OMIM:618961
Diamond-Blackfan Anemia 1	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:105650
Aniridia And Absent Patella	Cataract, Aniridia	OMIM:106220
Pelvis-Shoulder Dysplasia	Opacification of the corneal stroma, Microphthalmia, Iris coloboma	OMIM:169550
Tangier Disease	Opacification of the corneal stroma, Hepatomegaly, Splenomegaly, Left ventricular hypertrophy	OMIM:205400
Gelatinous Drop-Like Corneal Dystrophy	Conjunctival amyloidosis, Corneal neovascularization, Subepithelial corneal opacities, Central op...	ORPHA:98957
Otodental Syndrome	Microphthalmia, Microcornea, Lens coloboma, Cataract, Iris coloboma	ORPHA:2791
Corneal Dystrophy, Fuchs Endothelial, 4	Corneal dystrophy, Corneal guttata	OMIM:613268
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Keratitis, Corneal opacity, Conjunctivitis	OMIM:602562
Castleman Disease	Anemia, Hematuria, Elevated circulating C-reactive protein concentration, Ureteral obstruction, T...	ORPHA:160
Temtamy Syndrome	Lens luxation, Ectopia lentis, Microphthalmia, Iris coloboma	OMIM:218340
Edict Syndrome	Astigmatism, Anterior polar cataract, Keratoconus, Microcornea, Hypoplasia of the iris	OMIM:614303
Dyschondrosteosis-Nephritis Syndrome	Hematuria, Corneal opacity, Proteinuria, Nephropathy	ORPHA:1765
Joubert Syndrome 37	Microphthalmia, Hepatomegaly, Decreased testicular size, Hydronephrosis, Cryptorchidism, Micropenis	OMIM:619185
Cataract 10, Multiple Types	Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract	OMIM:600881
Dominant Beta-Thalassemia	Abnormality of iron homeostasis, Hypochromic microcytic anemia, Decreased mean corpuscular hemogl...	ORPHA:231226
Farber Disease	Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, Intrahepatic ch...	ORPHA:333
Fanconi Anemia, Complementation Group I	Microphthalmia, Astigmatism, Decreased response to growth hormone stimulation test, Optic nerve h...	OMIM:609053
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia, Elevated urinary aminoisobutyric acid, Beta-alaninuria, Elevated urinary 3-hydrox...	OMIM:614105
Cochleosaccular Degeneration-Cataract Syndrome	Cataract	ORPHA:3233
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal dystrophy, Corneal guttata	OMIM:615523
Cerebrooculofacioskeletal Syndrome 1	Cataract, Microphthalmia, Cryptorchidism	OMIM:214150
Microphthalmia, Lenz Type	Microphthalmia, Hydroureter, Hypospadias, Microcornea, Hydronephrosis, Cataract, Cryptorchidism, ...	ORPHA:568
Trichothiodystrophy 6, Nonphotosensitive	Increased HbA2 hemoglobin, Decreased mean corpuscular volume	OMIM:616943
Hereditary Leiomyomatosis And Renal Cell Cancer	Cataract, Uterine leiomyoma, Uterine leiomyosarcoma, Vaginal neoplasm	ORPHA:523
3Mc Syndrome 3	Penoscrotal hypospadias, Bifid scrotum, Corneal opacity, Cryptorchidism, Micropenis, Horseshoe ki...	OMIM:248340
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Band keratopathy, Bicarbonate-wasting renal tubular acidosis, Impaired renal tubular reabsorption...	OMIM:604278
Frontonasal Dysplasia 1	Cataract, Microphthalmia	OMIM:136760
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, External genital hypoplasia, Hypoplasia of penis, Anophthalmia, Hypogonadism, Cat...	ORPHA:2250
Beta-Thalassemia Major	Anisopoikilocytosis, Abnormality of iron homeostasis, Hypochromic microcytic anemia, Decreased me...	ORPHA:231214
Oculocerebrocutaneous Syndrome	Microphthalmia, Cryptorchidism, Anophthalmia	OMIM:164180
Kapur-Toriello Syndrome	Microphthalmia, Iris coloboma, Cataract, Cryptorchidism, Micropenis, Hypoplastic labia majora	OMIM:244300
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Autoimmune Polyendocrinopathy Type 1	Cataract, Opacification of the corneal stroma, Hypoparathyroidism, Adrenal hyperplasia	ORPHA:3453
Schimke Immuno-Osseous Dysplasia	Pancreatitis, Anemia, Abnormal proportion of naive CD4 T cells, Minimal change glomerulonephritis...	ORPHA:1830
Meckel Syndrome, Type 8	Microphthalmia, Enlarged kidney, Anophthalmia, Polycystic kidney dysplasia, Ambiguous genitalia	OMIM:613885
Hypoparathyroidism, Familial Isolated, 1	Cataract, Nephrocalcinosis, Hypoparathyroidism	OMIM:146200
Microphthalmia, Syndromic 3	Microphthalmia, Hypospadias, Anophthalmia, Optic nerve hypoplasia, Anterior pituitary hypoplasia,...	OMIM:206900
3Q29 Microduplication Syndrome	Microphthalmia, Aniridia, Sclerocornea, Cataract, Iris coloboma	ORPHA:251038
Lymphedema-Hypoparathyroidism Syndrome	Hypoparathyroidism, Renal insufficiency, Pulmonary lymphangiectasia, Cataract, Nephropathy	OMIM:247410
Dermochondrocorneal Dystrophy	Corneal dystrophy, Subepithelial corneal opacities, Anterior cortical cataract	OMIM:221800
Xk Aprosencephaly Syndrome	Microphthalmia, Abnormal external genitalia	ORPHA:3469
Fanconi Anemia, Complementation Group J	Bone marrow hypocellularity, Microphthalmia	OMIM:609054
Blindness-Scoliosis-Arachnodactyly Syndrome	Microphakia, Lens subluxation, Cataract	ORPHA:171844
Autoimmune Polyendocrine Syndrome, Type Ii	Cirrhosis, Iron deficiency anemia, Band keratopathy, Keratoconjunctivitis, Asplenia, Chronic hepa...	OMIM:269200
Alport Syndrome 2, Autosomal Recessive	Hematuria, Corneal erosion, Renal insufficiency, Nephrotic syndrome, Nephritis, Proteinuria, Cata...	OMIM:203780
Vitreoretinal Degeneration, Snowflake Type	Cataract, Corneal guttata	OMIM:193230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Microphthalmia, Optic nerve hypoplasia, Hypoplastic male external genitalia, Corneal opacity, Meg...	OMIM:236670
Axenfeld-Rieger Syndrome, Type 2	Hypospadias, Microcornea, Opacification of the corneal stroma, Cryptorchidism, Anterior chamber s...	OMIM:601499
Proteus-Like Syndrome	Thymus hyperplasia, Heterochromia iridis, Splenomegaly, Cataract, Limbal dermoid, Polycystic ovar...	ORPHA:2969
Myotonic Dystrophy 1	Cataract, Hypogonadism, Testicular atrophy, Cholelithiasis	OMIM:160900
Hurler Syndrome	Hepatomegaly, Corneal opacity, Dermatan sulfate excretion in urine, Enlarged tonsils, Hepatosplen...	OMIM:607014
Congenital Muscular Dystrophy With Cerebellar Involvement	Microphthalmia, Abnormality iris morphology, Optic nerve hypoplasia, Megalocornea, Cataract	ORPHA:370959
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia, Sclerocornea, Cataract, Cryptorchidism, Micropenis	OMIM:614230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Cataract, Microphthalmia, Abnormally large globe	OMIM:615249
Traboulsi Syndrome	Microphthalmia, Spherophakia, Homocystinuria, Phakodonesis, Iris atrophy, Ectopia lentis, Shallow...	OMIM:601552
Tangier Disease	Anemia, Corneal opacity, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, Hepato...	ORPHA:31150
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Chronic tubulointerstitial nephritis, Hepatomegaly, Renal hypoplasia, Proteinuria, Cataract, Stag...	OMIM:614376
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay	Corneal opacity	OMIM:620469
Pearson Syndrome	Elevated circulating hepatic transaminase concentration, Reticulocytosis, Bone marrow hypocellula...	ORPHA:699
Oculocerebrocutaneous Syndrome	Cryptorchidism, Corneal opacity, Iris coloboma	ORPHA:1647
Al-Gazali Syndrome	Sclerocornea, Corneal opacity, Hydronephrosis	OMIM:609465
Fryns Syndrome	Microphthalmia, Hypospadias, Vesicoureteral reflux, Corneal opacity, Bicornuate uterus, Hydroneph...	ORPHA:2059
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ...	OMIM:619313
Xeroderma Pigmentosum, Complementation Group D	Corneal neovascularization, Microphthalmia, Keratitis, Conjunctivitis, Cataract, Keratoconjunctiv...	OMIM:278730
Vernal Keratoconjunctivitis	Corneal neovascularization, Corneal ulceration, Keratoconus, Keratoconjunctivitis, Punctate kerat...	ORPHA:70476
Hereditary Mucoepithelial Dysplasia	Cataract, Corneal dystrophy, Hematuria, Abnormal morphology of female internal genitalia	ORPHA:1839
Olmsted Syndrome 1	Opacification of the corneal stroma, Corneal opacity	OMIM:614594
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	ORPHA:79095
Linear Skin Defects With Multiple Congenital Anomalies 1	Microphthalmia, Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Ovotestis, Chordee, ...	OMIM:309801
Generalized Eruptive Keratoacanthoma	Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis	ORPHA:411777
Cutis Laxa, Autosomal Dominant 3	Developmental cataract, Corneal opacity, Unilateral renal agenesis	OMIM:616603
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Corneal dystrophy, Ectopia pupillae, Corneal guttata	OMIM:609141
Baraitser-Winter Syndrome 1	Microphthalmia, Cryptorchidism, Micropenis, Iris coloboma	OMIM:243310
Cardiomyopathy, Dilated, 1Ii	Cataract	OMIM:615184
Fryns Microphthalmia Syndrome	Unicornuate uterus, Microphthalmia, Anophthalmia	OMIM:600776
Histiocytoid Cardiomyopathy	Microphthalmia, Hepatomegaly, Corneal opacity, Megalocornea, Congenital aphakia, Renal cyst, Card...	ORPHA:137675
Adams-Oliver Syndrome 2	Microphthalmia, Developmental cataract	OMIM:614219
Mirage Syndrome	Anemia, Hypospadias, Microphallus, Hypergonadotropic hypogonadism, Decreased testicular size, Hyp...	OMIM:617053
Ophthalmomandibulomelic Dysplasia	Opacification of the corneal stroma, Megalocornea	OMIM:164900
Mucolipidosis Type Iv	Corneal opacity	ORPHA:578
Oculofaciocardiodental Syndrome	Microphthalmia, Microcornea, Ectopia lentis, Cataract, Iris coloboma	ORPHA:2712
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Chronic hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Unconjugated hyperbiliru...	OMIM:618278
Familial Dysautonomia	Corneal erosion, Abnormal peritoneum morphology, Corneal opacity, Heterochromia iridis, Renal ins...	ORPHA:1764
Adams-Oliver Syndrome	Cirrhosis, Microphthalmia, Portal hypertension, Leukopenia, Congenital hepatic fibrosis, Thromboc...	ORPHA:974
Ichthyosis, Congenital, Autosomal Recessive 11	Corneal opacity	OMIM:602400
Familial Isolated Hypoparathyroidism	Cataract, Hypoparathyroidism, Nephropathy	ORPHA:2238
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Microphthalmia, Corneal opacity, Ectopia pupillae, Lens subluxation, Increased hepatic echogenicity	OMIM:608940
Distal Deletion 6P	Abnormal anterior chamber morphology, Corneal opacity, Hypoplasia of the iris, Posterior embryoto...	ORPHA:96125
Microphthalmia, Syndromic 9	Multilobulated spleen, Bilateral microphthalmos, Anophthalmia, Pelvic kidney, Bicornuate uterus, ...	OMIM:601186
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Cataract, Microphthalmia, Oligosacchariduria	ORPHA:163649
Peroxisome Biogenesis Disorder 10B	Cataract, Neurogenic bladder, Nephrocalcinosis	OMIM:617370
Papillorenal Syndrome	Microphthalmia, Hematuria, Horseshoe kidney, Lens luxation, Vesicoureteral reflux, Mild proteinur...	OMIM:120330
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Peters anomaly	OMIM:614526
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Splenomegaly, Cardiomegaly, Opacification of the corneal stroma	OMIM:231005
Mucopolysaccharidosis, Type Ivb	Hepatomegaly, Keratan sulfate excretion in urine, Corneal opacity, Chondroitin sulfate excretion ...	OMIM:253010
Kapur-Toriello Syndrome	Hypoplastic labia majora, Microphthalmia, Hypoplasia of penis, Iris coloboma	ORPHA:2328
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Clitoral hypertrophy, Hypospadias, Microcornea, Hydronephrosis, Cataract	OMIM:616449
Primary Hyperoxaluria Type 1	Calcinosis, Hematuria, Anemia, Decreased glomerular filtration rate, Hyperoxaluria, Dysuria, Neph...	ORPHA:93598
Gm1 Gangliosidosis	Abnormal scrotum morphology, Corneal opacity, Splenomegaly, Hepatosplenomegaly	ORPHA:354
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Hydroureter, Hypoplasia of penis	ORPHA:2547
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia, Anemia, Elevated circulating hepatic transaminase concentration, Accessory spleen...	OMIM:620005
Meckel Syndrome, Type 5	Microphthalmia, Renal cyst, Bile duct proliferation	OMIM:611561
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Sandestig-Stefanova Syndrome	Microphthalmia, Developmental cataract	OMIM:618804
Lathosterolosis	Anisopoikilocytosis, Intrahepatic cholestasis, Hepatomegaly, Hypoplasia of penis, Microcornea, Ab...	ORPHA:46059
Neurotrophic Keratopathy	Recurrent corneal erosions, Astigmatism, Corneal ulceration, Corneal stromal edema, Corneal scarr...	ORPHA:137596
Corneal Dystrophy, Posterior Amorphous	Corneal dystrophy, Ectopia pupillae, Iris coloboma	OMIM:612868
Schimmelpenning-Feuerstein-Mims Syndrome	Precocious puberty, Hyperphosphaturia, Corneal opacity, Horseshoe kidney	OMIM:163200
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Tetraamelia Syndrome 1	Microphthalmia, Absent external genitalia, Hypoplasia of the fallopian tube, Asplenia, Vaginal at...	OMIM:273395
Cadds	Cataract, Elevated circulating hepatic transaminase concentration, Cholestasis, Cholangitis	ORPHA:369942
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Absence of labia majora, Hypospadias, Optic nerve hypoplasia, Corneal dystrophy, Hypoplastic labi...	ORPHA:495875
Oculopalatocerebral Syndrome	Microphthalmia, Leukocoria	OMIM:257910
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Cataract, Corneal erosion, Decreased proportion of class-switched memory B cells	OMIM:614878
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia, Shallow anterior chamber	OMIM:305390
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Micropenis	OMIM:308350
Wilson Disease	Sunflower cataract, Portal fibrosis, Acute hepatic failure, Splenomegaly, Hepatic steatosis, Jaun...	OMIM:277900
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen	ORPHA:89844
Mosaic Trisomy 8	Vesicoureteral reflux, Corneal opacity, Decreased testicular size, Hydronephrosis, Cryptorchidism	ORPHA:96061
Wolfram Syndrome 1	Hydroureter, Megaloblastic anemia, Neurogenic bladder, Sideroblastic anemia, Hydronephrosis, Thro...	OMIM:222300
Isolated Ectopia Lentis	Cataract, Ectopia lentis, Ectopia pupillae	ORPHA:1885
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia, Lens subluxation, Corneal opacity, Ectopia pupillae	ORPHA:85167
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Microphthalmia, Sclerocornea	OMIM:300952
Mucolipidosis Type Iii Alpha/Beta	Keratan sulfate excretion in urine, Oligosacchariduria, Corneal opacity, Right ventricular hypert...	ORPHA:423461
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Leukemia	OMIM:602501
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Jaundice, Hepatomegaly, Splenomegaly, Cataract, Stomatocytosis, Nuclear cataract, Hemolytic anemia	OMIM:608885
Martsolf Syndrome 1	Microphthalmia, Developmental cataract, Cataract, Cryptorchidism, Micropenis, Hypogonadotropic hy...	OMIM:212720
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Microphthalmia, Astigmatism, Ectopia pupillae	OMIM:618727
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cataract, Buphthalmos, Microphthalmia	OMIM:616538
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Corneal opacity, Dermatan sulfate excretion in urine, Splenomegaly, Urinary glycosa...	OMIM:253220
Eisenmenger Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Hypochromic microcytic anemia, Iro...	ORPHA:97214
Oculogastrointestinal Neurodevelopmental Syndrome	Vaginal fistula, Bilateral microphthalmos, Horseshoe kidney, Unilateral microphthalmos	OMIM:619318
Scheie Syndrome	Corneal opacity	OMIM:607016
Coloboma, Ocular, Autosomal Recessive	Cataract, Lens subluxation, Iris coloboma	OMIM:216820
Hyperferritinemia With Or Without Cataract	Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract	OMIM:600886
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Renal hypoplasia, Microphthalmia, Lens coloboma	OMIM:618914
Familial Exudative Vitreoretinopathy	Cataract, Microphthalmia	ORPHA:891
Focal Dermal Hypoplasia	Microphthalmia, Corneal opacity, Hypoplasia of the iris, Ectopia lentis, Hydronephrosis, Acute he...	ORPHA:2092
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, Hypogonadotropic hypogonadism	ORPHA:1135
Frontorhiny	Cataract, Microphthalmia, Hypopituitarism, Iris coloboma	ORPHA:391474
Brittle Cornea Syndrome 1	Keratoconus, Decreased corneal thickness, Abnormal cornea morphology, Keratoglobus	OMIM:229200
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia	OMIM:218670
Microphthalmia, Syndromic 11	Microphthalmia, Agenesis of pineal gland	OMIM:614402
Mucopolysaccharidosis Type 1	Mucopolysacchariduria, Abnormality of the tonsils, Corneal opacity, Splenomegaly	ORPHA:579
Xeroderma Pigmentosum, Complementation Group B	Cataract, Microphthalmia, Hypogonadism	OMIM:610651
Schimke Immunoosseous Dysplasia	Abnormal T cell morphology, Astigmatism, Anemia, Pancytopenia, Focal segmental glomerulosclerosis...	OMIM:242900
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Cataract, Microphthalmia, Astigmatism	OMIM:618571
X-Linked Dominant Chondrodysplasia Punctata	Cataract, Microcornea, Microphthalmia, Hydronephrosis	ORPHA:35173
Hurler Syndrome	Hepatomegaly, Abnormality of the tonsils, Corneal opacity, Mucopolysacchariduria, Splenomegaly	ORPHA:93473
Jacobsen Syndrome	Microphthalmia, Annular pancreas, Hypospadias, Labial hypoplasia, Microcornea, Clitoral hypoplasi...	OMIM:147791
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Renal hypoplasia, Microphthalmia, Hepatomegaly, Ketonuria	OMIM:619053
Peroxisome Biogenesis Disorder 5A (Zellweger)	Clitoral hypertrophy, Jaundice, Hepatomegaly, Hypospadias, Intrahepatic biliary dysgenesis, Polyc...	OMIM:614866
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Opacification of the corneal stroma	OMIM:601356
Pierson Syndrome	Posterior lenticonus, Microphthalmia, Hypoplasia of the ciliary body, Microcoria, Hypoplasia of t...	OMIM:609049
Cataract 5, Multiple Types	Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract	OMIM:116800
Amyloidosis, Finnish Type	Lattice corneal dystrophy, Nephrotic syndrome, Urolithiasis, Cataract, Stage 5 chronic kidney dis...	OMIM:105120
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia, Corneal opacity, Vaginal neoplasm, Acute lymphoblastic leukemia, Cataract, Ambigu...	ORPHA:1052
Insensitivity To Pain, Congenital, With Anhidrosis	Recurrent corneal erosions, Corneal ulceration, Corneal scarring, Keratitis, Opacification of the...	OMIM:256800
Mucopolysaccharidosis Type 6	Mucopolysacchariduria, Opacification of the corneal stroma, Splenomegaly	ORPHA:583
Tyrosinemia Type 2	Corneal opacity	ORPHA:28378
Phace Syndrome	Microphthalmia, Optic nerve hypoplasia, Heterochromia iridis, Sclerocornea, Lens coloboma, Catara...	ORPHA:42775
Incontinentia Pigmenti	Microphthalmia, Corneal opacity, Keratitis, Cataract, Eosinophilia, Supernumerary nipple	ORPHA:464
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Cholelithiasis, Chronic active hepatitis, Keratoconjunctivitis, Asplenia, Fem...	OMIM:240300
Trichothiodystrophy 4, Nonphotosensitive	Microcornea, Microphthalmia, Keratoconjunctivitis sicca	OMIM:234050
Stormorken Syndrome	Anemia, Hematuria, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Mosaic Trisomy 1	Microphthalmia, Penile hypospadias, Renal cortical cysts, Renal cyst, Hepatic agenesis, Opacifica...	ORPHA:1692
Phace Association	Optic nerve hypoplasia, Microphthalmia, Lingual thyroid, Developmental cataract	OMIM:606519
Microphthalmia With Linear Skin Defects Syndrome	Epispadias, Microphthalmia, Clitoral hypertrophy, Hypospadias, Abnormal fallopian tube morphology...	ORPHA:2556
Skin Creases, Congenital Symmetric Circumferential, 1	Microcornea, Microphthalmia, Hypoplastic nipples	OMIM:156610
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos, Ocular anterior segment dysgenesis, Cryptorchidism	ORPHA:369891
Chromosome Xp11.3 Deletion Syndrome	Cataract, Posterior subcapsular cataract, Cryptorchidism	OMIM:300578
Proboscis Lateralis	Microphthalmia, External genital hypoplasia, Unilateral renal agenesis, Anophthalmia, Optic nerve...	ORPHA:141099
1Q21.1 Microdeletion Syndrome	Microphthalmia, Vesicoureteral reflux, Hydronephrosis, Cataract, Cryptorchidism, Iris coloboma	ORPHA:250989
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Hypospadias, Cataract, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism,...	OMIM:603457
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Hypoparathyroidism, Developmental cataract, Anemia	OMIM:127000
Curry-Jones Syndrome	Microphthalmia, Iris coloboma	ORPHA:1553
Meckel Syndrome, Type 2	Microphthalmia, Renal cyst, Bile duct proliferation	OMIM:603194
Seckel Syndrome 2	Microphthalmia, Ectopic kidney, Hypospadias	OMIM:606744
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Astigmatism, Hypospadias, Unilateral renal agenesis, Pelvic kidney, Corneal opacity, Renal cyst, ...	ORPHA:464311
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microcornea, Microphthalmia, Hypoplasia of the uterus, Increased circulating gonadotropin level	OMIM:110100
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia, Unilateral renal agenesis, Renal hypoplasia, Hydronephrosis, Cryptorchidism	OMIM:618494
Cockayne Syndrome Type 3	Microphthalmia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hydrourete...	ORPHA:90324
Carpenter Syndrome 1	External genital hypoplasia, Hydroureter, Microcornea, Precocious puberty, Hydronephrosis, Opacif...	OMIM:201000
Mucopolysaccharidosis Type 3	Hepatomegaly, Cardiomegaly, Recurrent tonsillitis, Corneal opacity, Mucopolysacchariduria, Spleno...	ORPHA:581
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Hypospadias, Cholelithiasis, Microcornea, Hydronephrosis, Developmental cataract,...	ORPHA:464738
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Microcornea, Hypogonadism, Cataract, Keratoconjunctivitis sicca	OMIM:601675
Incontinentia Pigmenti	Breast hypoplasia, Microphthalmia, Breast aplasia, Hypoplastic nipples, Leukocytosis, Keratitis, ...	OMIM:308300
Joubert Syndrome 22	Renal hypoplasia, Microphthalmia	OMIM:615665
Braddock-Carey Syndrome 2	Microphthalmia, Thrombocytopenia	OMIM:619981
Subaortic Stenosis-Short Stature Syndrome	Biliary tract abnormality, Microphthalmia	ORPHA:3191
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Corneopalpebral synechiae, Vaginal atresia, Anophthalmia	OMIM:248450
Nasopalpebral Lipoma-Coloboma Syndrome	Conjunctival hyperemia, Microphthalmia	OMIM:167730
Morning Glory Disc Anomaly	Cataract	ORPHA:35737
3Q29 Microdeletion Syndrome	Cataract, Microphthalmia, Horseshoe kidney, Hypospadias	ORPHA:65286
Fanconi Anemia, Complementation Group F	Microphthalmia, Decreased response to growth hormone stimulation test, Anemia, Pelvic kidney, Ves...	OMIM:603467
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia, Multiple bladder diverticula, Proteinuria, Small scrotum, Cryptorchidism	ORPHA:2728
Dyrk1A-Related Intellectual Disability Syndrome	Breast hypoplasia, Astigmatism, Hypospadias, Unilateral renal agenesis, Pelvic kidney, Anterior p...	ORPHA:464306
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Microphthalmia, Persistent pupillary membrane, Cataract, Buphthalmos, Peters anomaly	OMIM:613150
Moebius Syndrome	Decreased testicular size, Microphthalmia, Micropenis, Hypogonadotropic hypogonadism	OMIM:157900
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Small scrotum, Microphthalmia, Cryptorchidism, Hypogonadism	ORPHA:228390
Dahlberg-Borer-Newcomer Syndrome	Cataract, Hypoparathyroidism, Nephropathy, Renal insufficiency	ORPHA:1563
Vacterl With Hydrocephalus	Microphthalmia, Abnormal fallopian tube morphology, Anophthalmia, Microcornea, Cryptorchidism	ORPHA:3412
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Macroorchidism, Hypospadias, Unilateral microphthalmos, Iris coloboma	OMIM:618874
Oculodentodigital Dysplasia, Autosomal Recessive	Cataract, Microcornea, Microphthalmia, Persistent pupillary membrane	OMIM:257850
Peroxisome Biogenesis Disorder 1A (Zellweger)	Clitoral hypertrophy, Hepatomegaly, Hypospadias, Intrahepatic biliary dysgenesis, Prolonged neona...	OMIM:214100
Ciliary Dyskinesia, Primary, 53	Cardiomegaly, Hypoplastic spleen, Polysplenia, Abdominal situs inversus	OMIM:620642
Fanconi Anemia, Complementation Group S	Ovarian carcinoma, Ovarian neoplasm, Microphthalmia, Anemia	OMIM:617883
Rothmund-Thomson Syndrome, Type 2	Microphthalmia, Annular pancreas, Microcornea, Zonular cataract, Hypogonadism, Cataract, Cryptorc...	OMIM:268400
Hydrolethalus	Microphthalmia, Cryptorchidism, Abnormal fallopian tube morphology, Anophthalmia	ORPHA:2189
Meckel Syndrome, Type 4	Microphthalmia, Renal cyst, Bile duct proliferation	OMIM:611134
Acro-Renal-Ocular Syndrome	Microphthalmia, Optic disc hypoplasia, Microcornea, Vesicoureteral reflux, Crossed fused renal ec...	ORPHA:959
Spondyloepiphyseal Dysplasia, Maroteaux Type	Mucopolysacchariduria, Opacification of the corneal stroma	OMIM:184095
Mucopolysaccharidosis Type 4	Mucopolysacchariduria, Corneal opacity	ORPHA:582
Lathosterolosis	Bilobate gallbladder, Anisopoikilocytosis, Ambiguous genitalia, male, Intrahepatic cholestasis, E...	OMIM:607330
Gomez-Lopez-Hernandez Syndrome	Opacification of the corneal stroma, Decreased response to growth hormone stimulation test	OMIM:601853
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Vaginal atresia, Hyp...	OMIM:617914
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia	OMIM:300887
De Barsy Syndrome	Cataract, Cryptorchidism, Corneal opacity	ORPHA:2962
Iridocorneal Endothelial Syndrome	Polycoria, Iris nevus, Posterior synechiae of the anterior chamber, Corneal stromal edema, Iris a...	ORPHA:64734
Treacher-Collins Syndrome	Microphthalmia, Small scrotum, Rectovaginal fistula, Hypoplasia of penis, Thyroid hypoplasia, Hyp...	ORPHA:861
Oculo-Palato-Cerebral Syndrome	Cataract, Microphthalmia, Leukocoria	ORPHA:2714
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Corneal neovascularization, Astigmatism, Polycoria, Microphthalmia, Microcornea, Corneal opacity,...	OMIM:175780
Cockayne Syndrome B	Microphthalmia, Hepatomegaly, Renal insufficiency, Microcornea, Hypoplasia of the iris, Developme...	OMIM:133540
Fanconi Anemia, Complementation Group E	Microphthalmia, Anemia, Ectopic kidney, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypogo...	OMIM:600901
Oculocerebrorenal Syndrome Of Lowe	Microphthalmia, Corneal opacity, Nephrocalcinosis, Multiple renal cysts, Hyperparathyroidism, Azo...	ORPHA:534
Norrie Disease	Microphthalmia, Aplasia/Hypoplasia of the lens, Corneal opacity, Hypoplasia of the iris, Cryptorc...	ORPHA:649
Gaucher Disease	Cirrhosis, Hepatomegaly, Anemia, Hematuria, Cholelithiasis, Pancytopenia, Corneal opacity, Spleni...	ORPHA:355
Fabry Disease	Cornea verticillata, Anemia, Hematuria, Corneal dystrophy, Corneal opacity, Nephropathy, Conjunct...	ORPHA:324
Fanconi Anemia, Complementation Group R	Bone marrow hypocellularity, Microphthalmia, Pelvic kidney, Anemia	OMIM:617244
Mucoepithelial Dysplasia, Hereditary	Corneal neovascularization, Hematuria, Keratoconjunctivitis, Eosinophilia, Cataract, Opacificatio...	OMIM:158310
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Corneal opacity	ORPHA:364577
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Microphthalmia, Corneal opacity	OMIM:601812
Ifap Syndrome 2	Cataract, Keratitis, Keratoconjunctivitis sicca	OMIM:619016
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Anemia, Cholelithiasis, Pancytopenia, Azoospermia, Corneal opacity, Hepatosplenomegaly, Splenomeg...	ORPHA:2072
Galloway-Mowat Syndrome 1	Microphthalmia, Focal segmental glomerulosclerosis, Hypoplasia of the iris, Nephrotic syndrome, P...	OMIM:251300
Microphthalmia, Isolated 8	Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia	OMIM:615113
Congenital Disorder Of Deglycosylation 1	3-Methylglutaconic aciduria, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	OMIM:615273
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Microphthalmia, Congenital hypoparathyroid...	OMIM:241410
Chromosome 6Pter-P24 Deletion Syndrome	Ocular anterior segment dysgenesis, Axenfeld anomaly, Posterior embryotoxon, Opacification of the...	OMIM:612582
Alpha-Mannosidosis, Infantile Form	Astigmatism, Pancytopenia, Corneal opacity, Hepatosplenomegaly, Cataract, Oligosacchariduria	ORPHA:309282
Gorlin-Chaudhry-Moss Syndrome	Astigmatism, Sclerocornea	ORPHA:2095
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Corneal opacity, Splenomegaly, Dermatan sulfate excretion in urine	OMIM:253200
Trisomy 18	Microphthalmia, Microcornea, Hydronephrosis, Cataract, Cryptorchidism, Abnormal morphology of fem...	ORPHA:3380
Pelvis-Shoulder Dysplasia	Bilateral microphthalmos, Microcornea, Hydronephrosis, Ambiguous genitalia, Iris coloboma	ORPHA:2839
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Anemia, Vesicoureteral reflux, Corneal opacity, Leukocytosis, Aplasia of th...	OMIM:274000
Fanconi Anemia, Complementation Group A	Microphthalmia, Anemia, Ectopic kidney, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypogo...	OMIM:227650
Tbck-Related Intellectual Disability Syndrome	Decreased response to growth hormone stimulation test, Neurogenic bladder, Cryptorchidism, Cornea...	ORPHA:488632
Fryns Syndrome	Microphthalmia, Ureteral duplication, Hypospadias, Bifid scrotum, Bicornuate uterus, Renal cyst, ...	OMIM:229850
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Heterochromia iridis, Anisocoria, Corneal kera...	ORPHA:263479
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Ocular Cystinosis	Corneal crystals	ORPHA:411641
Fanconi Anemia	Microphthalmia, Astigmatism, Anemia, Hydroureter, Hypospadias, Abnormal preputium morphology, Azo...	ORPHA:84
Ablepharon Macrostomia Syndrome	Breast hypoplasia, Abnormal female external genitalia morphology, Corneal erosion, Hypoplasia of ...	ORPHA:920
Duane-Radial Ray Syndrome	Microphthalmia, Optic disc hypoplasia, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, C...	OMIM:607323
Fraser Syndrome 1	Bilateral microphthalmos, Clitoral hypertrophy, Hypospadias, Anophthalmia, Corneal opacity, Bicor...	OMIM:219000
Marden-Walker Syndrome	Microphthalmia, Hypospadias, Renal hypoplasia, Cryptorchidism, Micropenis	OMIM:248700
Bartsocas-Papas Syndrome 1	Popliteal pterygium, Axillary pterygium, Microphthalmia, Ambiguous genitalia, Ectopic kidney, Cor...	OMIM:263650
Cockayne Syndrome	Microphthalmia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Unilateral...	ORPHA:191
Mucolipidosis Iii Alpha/Beta	Mucopolysacchariduria, Opacification of the corneal stroma, Hyperopic astigmatism, Hepatomegaly	OMIM:252600
Fanconi Anemia, Complementation Group C	Microphthalmia, Anemia, Ectopic kidney, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypogo...	OMIM:227645
Leiomyomatosis, Diffuse, With Alport Syndrome	Lenticonus, Hematuria, Renal insufficiency, Nephropathy, Microscopic hematuria, Abnormal renal ph...	OMIM:308940
Alagille Syndrome 1	Elevated circulating hepatic transaminase concentration, Cholestasis, Prolonged neonatal jaundice...	OMIM:118450
Moebius Syndrome	Corneal opacity, Hypogonadotropic hypogonadism, Breast aplasia	ORPHA:570
Cat Eye Syndrome	Microphthalmia, Biliary atresia, Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney, Iris co...	OMIM:115470
Dubowitz Syndrome	Aplastic anemia, Microphthalmia, Hypospadias, Megalocornea, Hypoplasia of the iris, Acute lymphob...	OMIM:223370
Lymphedema-Distichiasis Syndrome	Recurrent corneal erosions, Microphthalmia, Corneal ulceration, Conjunctivitis	OMIM:153400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Cataract, Optic nerve hypoplasia, Microphthalmia, Peters anomaly	OMIM:614643
Mednik Syndrome	Cataract, Hepatic fibrosis, Cholestasis, Cirrhosis	OMIM:609313
Spondylodysplastic Ehlers-Danlos Syndrome	Posterior subcapsular cataract, Optic nerve hypoplasia, Corneal opacity, Megalocornea, Hypogonadi...	ORPHA:536471
Chondrodysplasia Punctata 2, X-Linked Dominant	Cataract, Microphthalmia, Hydronephrosis	OMIM:302960
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Stage 5 chronic kidney disease, Corneal crystals, Proteinuria	OMIM:219900
Steinfeld Syndrome	Absent gallbladder, Microphthalmia, Iris coloboma	OMIM:184705
Meckel Syndrome, Type 1	Ambiguous genitalia, male, Microphthalmia, External genital hypoplasia, Accessory spleen, Polycys...	OMIM:249000
Fanconi Anemia, Complementation Group D2	Annular pancreas, Microphthalmia, Anemia, Ectopic kidney, Pancytopenia, Pelvic kidney, Reticulocy...	OMIM:227646
Cystinosis, Adult Nonnephropathic	Corneal crystals	OMIM:219750
Cousin Syndrome	Ambiguous genitalia, male, Microphthalmia, Microcornea, Hydronephrosis, Ambiguous genitalia, female	OMIM:260660
Oculoectodermal Syndrome	Astigmatism, Microcornea, Bladder exstrophy, Limbal dermoid, Opacification of the corneal stroma,...	OMIM:600268
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Solitary Median Maxillary Central Incisor	Microphthalmia, Decreased response to growth hormone stimulation test, Anterior hypopituitarism, ...	OMIM:147250
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia, Cryptorchidism	ORPHA:404440
Ciliary Dyskinesia, Primary, 1	Abnormal cornea morphology, Asplenia	OMIM:244400
Frontofacionasal Dysplasia	Cataract, Microcornea, Microphthalmia, Iris coloboma	OMIM:229400
Mucopolysaccharidosis, Type Iva	Keratan sulfate excretion in urine, Opacification of the corneal stroma, Hepatomegaly, Chondroiti...	OMIM:253000
Roberts-Sc Phocomelia Syndrome	Microphthalmia, Clitoral hypertrophy, Enlarged labia minora, Hypospadias, Accessory spleen, Long ...	OMIM:268300
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Ocular albinism	ORPHA:1352
Atelis Syndrome 2	Thrombocytopenia, Microphthalmia, Developmental cataract, Anemia	OMIM:620185
Cohen Syndrome	Microphthalmia, Cryptorchidism, Neutropenia, Iris coloboma	ORPHA:193
Apolipoprotein A-I Deficiency	Opacification of the corneal stroma	ORPHA:425
Kindler Epidermolysis Bullosa	Anemia, Phimosis, Corneal opacity, Conjunctivitis, Urethral stricture, Neoplasm of the urethra	ORPHA:2908
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Supernumerary nipple, Iris coloboma	ORPHA:1236
Microphthalmia With Limb Anomalies	Microphthalmia, Unilateral cryptorchidism, Anophthalmia	OMIM:206920
Hallermann-Streiff Syndrome	Microphthalmia, Cryptorchidism, Developmental cataract, Abdominal situs inversus	ORPHA:2108
Multicentric Osteolysis, Nodulosis, And Arthropathy	Peripheral opacification of the cornea, Corneal opacity	OMIM:259600
Garg-Mishra Progeroid Syndrome	Microvesicular hepatic steatosis, Microphthalmia	OMIM:620601
Smith-Lemli-Opitz Syndrome	Clitoral hypertrophy, Abnormality of the gallbladder, Hypospadias, Hypoplasia of penis, Aplasia/H...	ORPHA:818
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Cataract, Microphthalmia	OMIM:253800
Mucolipidosis Iii Gamma	Mucopolysacchariduria, Opacification of the corneal stroma	OMIM:252605
Roberts Syndrome	Microphthalmia, Clitoral hypertrophy, Long penis, Polycystic kidney dysplasia, Thrombocytopenia, ...	ORPHA:3103
Bietti Crystalline Corneoretinal Dystrophy	Marginal corneal dystrophy, Corneal crystals	OMIM:210370
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos, Anemia, Congenital hypoparathyroidism, Decreased testicular size, Devel...	ORPHA:93325
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Digeorge Syndrome	Anemia, Unilateral renal agenesis, Cholelithiasis, Renal insufficiency, Hypoplasia of the thymus,...	OMIM:188400
Basal Cell Nevus Syndrome 1	Microphthalmia, Ovarian fibroma, Cataract, Ovarian carcinoma, Iris coloboma	OMIM:109400
22Q11.2 Deletion Syndrome	Corneal neovascularization, Microphthalmia, Hypoparathyroidism, Hypospadias, Cholelithiasis, Abno...	ORPHA:567
Fraser Syndrome 2	Microphthalmia, Unilateral renal agenesis, Hypoplasia of the thymus, Renal hypoplasia, Ureteral a...	OMIM:617666
Mucopolysaccharidosis Type 2, Severe Form	Corneal opacity, Dermatan sulfate excretion in urine, Enlarged tonsils, Hepatosplenomegaly, Splen...	ORPHA:217085
Meckel Syndrome 14	Microphthalmia, Polycystic kidney dysplasia, Aplasia of the uterus, Ambiguous genitalia, Hepatic ...	OMIM:619879
Peters Plus Syndrome	Ureteral duplication, Hypoplasia of the uterus, Hypospadias, Anterior hypopituitarism, Microcorne...	ORPHA:709
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Corneal opacity	OMIM:620519
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Lowe Oculocerebrorenal Syndrome	Low-molecular-weight proteinuria, Dense posterior cortical cataract, Microphthalmia, Bicarbonatur...	OMIM:309000
Chromosome 13Q33-Q34 Deletion Syndrome	Penoscrotal transposition, Microphthalmia, Hypospadias, Bifid scrotum, Left ventricular hypertrop...	OMIM:619148
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, Cryptorchidism, Supernumerary nipple	OMIM:612530
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Mucopolysaccharidosis Type 2, Attenuated Form	Corneal opacity, Dermatan sulfate excretion in urine, Enlarged tonsils, Hepatosplenomegaly, Splen...	ORPHA:217093
Hallermann-Streiff Syndrome	Cataract, Microphthalmia, Cryptorchidism, Iris coloboma	OMIM:234100
Monosomy 9Q22.3	Cataract, Ovarian fibroma, Microphthalmia	ORPHA:77301
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia, Hypospadias, Microcornea, Ureterocele, Small scrotum, Cryptorchidism	OMIM:616734
Trichothiodystrophy	Gonadal dysgenesis, Bilateral microphthalmos, Astigmatism, Anemia, Increased mean corpuscular hem...	ORPHA:33364
Monosomy 18P	Microphthalmia	ORPHA:1598
Holoprosencephaly	Microphthalmia, Anterior hypopituitarism, Hypoplasia of penis, Anophthalmia, Panhypopituitarism, ...	ORPHA:2162
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Annular pancreas, Microphthalmia, Hypospadias, Vesicoureteral reflux, Renal cyst, Cryptorchidism,...	OMIM:616975
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microphthalmia	OMIM:614833
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Corneal opacity, Anemia	ORPHA:79396
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Hepatomegaly, Rectovaginal fistula, Anophthalmia, Perineal fistula, Abnormality o...	ORPHA:2538
Pallister-Hall Syndrome	Microphthalmia, Decreased response to growth hormone stimulation test, Hydroureter, Ectopic kidne...	OMIM:146510
Linear Nevus Sebaceus Syndrome	Microphthalmia, Adenoma sebaceum, Iris coloboma	ORPHA:2612
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Opacification of the corneal stroma	OMIM:313400
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Oculodentodigital Dysplasia	Cataract, Neurogenic bladder, Microcornea, Microphthalmia	OMIM:164200
Ritscher-Schinzel Syndrome 3	Microphthalmia, Cryptorchidism	OMIM:619135
Mend Syndrome	Cataract, Microphthalmia, Cryptorchidism	ORPHA:401973
Mucopolysaccharidosis Type 2	Enlarged tonsils, Corneal opacity, Splenomegaly, Hepatomegaly	ORPHA:580
Fanconi Anemia, Complementation Group N	Aplastic anemia, Microphthalmia, Acute myeloid leukemia, Ectopic kidney, Unilateral renal agenesi...	OMIM:610832
Larsen Syndrome	Cryptorchidism, Corneal opacity	OMIM:150250
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Dyskeratosis Congenita, X-Linked	Cirrhosis, Anemia, Acute myeloid leukemia, Hypospadias, Pterygium, Pancytopenia, Phimosis, Decrea...	OMIM:305000
Neurofibromatosis Type 1	Pheochromocytoma, Corneal opacity, Heterochromia iridis, Precocious puberty, Chronic myelogenous ...	ORPHA:636
Wolf-Hirschhorn Syndrome	Abnormality of the gallbladder, Hypospadias, Megalocornea, Sclerocornea, Cryptorchidism, Abdomina...	ORPHA:280
Xeroderma Pigmentosum	Pterygium, Conjunctival telangiectasia, Decreased testicular size, Keratitis, Hypogonadism, Catar...	ORPHA:910
Cockayne Syndrome A	Hepatomegaly, Renal insufficiency, Thymic hormone decreased, Splenomegaly, Proteinuria, Hypogonad...	OMIM:216400
2Q31.1 Microdeletion Syndrome	Microphthalmia, Cryptorchidism, Iris coloboma	ORPHA:251014
Pseudotrisomy 13 Syndrome	Microphthalmia, Bicornuate uterus, Renal hypoplasia, Cryptorchidism, Micropenis	OMIM:264480
Chime Syndrome	Acute leukemia, Hydronephrosis, Corneal opacity	ORPHA:3474
Williams Syndrome	Hypoplasia of penis, Corneal opacity, Nephrocalcinosis, Multiple renal cysts, Urethral stenosis, ...	ORPHA:904
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Iris atrophy, Absent anterior chamber of the eye, Cataract, Phthisis bulbi	OMIM:259770
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Micropenis, Cryptorchidism, Supernumerary nipple, Iris coloboma	OMIM:613884
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia, Supernumerary nipple	OMIM:620098
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia, Hypoplastic nipples, Thyroid hypoplasia, Absent nipple, Prolonged neonatal jaundi...	OMIM:620186
Limb Body Wall Complex	Abnormality of the liver, Lens subluxation, Corneal opacity, Iris coloboma	ORPHA:2369
Ohdo Syndrome, X-Linked	Microphthalmia, Small scrotum, Shawl scrotum, Cryptorchidism, Micropenis	OMIM:300895
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Corneal opacity	OMIM:608670
Townes-Brocks Syndrome	Microphthalmia, Ectopic kidney, Hypospadias, Hypoplasia of penis, Abnormal vagina morphology, Rec...	ORPHA:857
Mycophenolate Mofetil Embryopathy	Microphthalmia, Ectopic kidney, Iris coloboma	ORPHA:268249
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Microphthalmia, Iris coloboma	ORPHA:3186
Monosomy 13Q14	Cataract, Microphthalmia, Iris coloboma	ORPHA:1587
Yunis-Varon Syndrome	Microphthalmia, Bilateral microphthalmos, Clitoral hypertrophy, Hypospadias, Cardiomegaly, Renal ...	ORPHA:3472
Microphthalmia, Syndromic 2	Microphthalmia, Hypospadias, Anophthalmia, Microcornea, Developmental cataract, Phthisis bulbi, S...	OMIM:300166
Encephalocraniocutaneous Lipomatosis	Corneal opacity, Iris coloboma	ORPHA:2396
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Microphthalmia, Buphthalmos, Megalocornea, Hypoplasia of the retina, Cataract, Opacification of t...	OMIM:253280
Joubert Syndrome 2	Microphthalmia, Nephronophthisis, Hypoplastic male external genitalia, Renal cyst, Renal insuffic...	OMIM:608091
Acrofrontofacionasal Dysostosis 1	Microphthalmia, Iris atrophy	OMIM:201180
Joubert Syndrome 14	Microphthalmia, Renal cyst	OMIM:614424
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Microphthalmia, Hypospadias, Optic nerve hypoplasia, Pelvic kidney, Renal hypoplasia, Exocrine pa...	ORPHA:508498
Aicardi Syndrome	Cataract, Microphthalmia, Precocious puberty, Hepatoblastoma	OMIM:304050
Fanconi Anemia, Complementation Group L	Microphthalmia, Anemia, Unilateral renal agenesis, Aplasia of the uterus, Bone marrow hypocellula...	OMIM:614083
Neurocardiofaciodigital Syndrome	Cataract, Vesicoureteral reflux, Sclerocornea	OMIM:619869
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Astigmatism, Hydroureter, Corneal erosion, Corneal opacity, Hydronephrosis, Keratitis, Conjunctiv...	ORPHA:2273
Autosomal Dominant Cutis Laxa	Unilateral renal agenesis, Corneal opacity, Developmental cataract, Bladder diverticulum, Pyelone...	ORPHA:90348
Curry-Jones Syndrome	Microphthalmia, Iris coloboma	OMIM:601707
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Hepatomegaly, Megalocornea, Mucopolysacchariduria, Splenomegaly, Cardiomegaly, O...	OMIM:252500
Charge Syndrome	Microphthalmia, Decreased response to growth hormone stimulation test, Hypoparathyroidism, Extern...	OMIM:214800
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia, Hypospadias, Hypoplasia of penis, Thyroid hypoplasia, Ambiguous genitalia, Crypto...	ORPHA:2166
Microphthalmia, Syndromic 6	Microphthalmia, Anterior hypopituitarism, Anophthalmia, Microcornea, Female hypogonadism, Renal h...	OMIM:607932
Renpenning Syndrome 1	Microphthalmia, Hypospadias, Phimosis, Decreased testicular size, Renal hypoplasia, Cataract	OMIM:309500
Wiedemann-Rautenstrauch Syndrome	Decreased response to growth hormone stimulation test, Optic disc hypoplasia, Hypospadias, Dilata...	ORPHA:3455
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Frontonasal Dysplasia 2	Microphthalmia, Bilateral cryptorchidism	OMIM:613451
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Optic nerve hypoplasia, Bilateral microphthalmos	OMIM:607597
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia, Renal cyst, Renal hypoplasia, Ambiguous genitalia, Cryptorchidism	OMIM:616300
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Popliteal pterygium, Microphthalmia, Hypospadias, Bifid scrotum, Clitoral hypoplasia, Antecubital...	OMIM:609945
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Cataract, Microphthalmia, Leukemia, Anophthalmia	ORPHA:2526
Degcags Syndrome	Abnormal renal medulla morphology, Microphthalmia, Hepatomegaly, Anemia, Iron deficiency anemia, ...	OMIM:619488
Neuroocular Syndrome	Microphthalmia, Microcornea, Stellate iris, Hypoplasia of the fovea, Lens coloboma, Brushfield sp...	OMIM:619539
Focal Dermal Hypoplasia	Microphthalmia, Ureteral duplication, Aniridia, Anophthalmia, Labial hypoplasia, Hypoplastic nipp...	OMIM:305600
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Galloway-Mowat Syndrome 3	Microphthalmia, Glomerular sclerosis, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuri...	OMIM:617729
Mowat-Wilson Syndrome	Microphthalmia, Hypospadias, Microcornea, Bifid scrotum, Ectopia pupillae, Cataract, Cryptorchidi...	OMIM:235730
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly, Opacification of the corneal stroma	ORPHA:79280
Charge Syndrome	Microphthalmia, Anterior hypopituitarism, Anophthalmia, Labial hypoplasia, Vesicoureteral reflux,...	ORPHA:138
Myhre Syndrome	Cataract, Microphthalmia, Cryptorchidism	OMIM:139210
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cataract, Microphthalmia	ORPHA:306542
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia, Uterus didelphys, Absent gallbladder, Septate vagina, Micropenis	OMIM:617925
Hereditary Acrokeratotic Poikiloderma	Opacification of the corneal stroma, Keratoconjunctivitis, Abnormal preputium morphology, Abnorma...	ORPHA:2907
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Holoprosencephaly 7	Bilateral microphthalmos, Microphthalmia, Panhypopituitarism, Iris coloboma	OMIM:610828
Osteogenesis Imperfecta	Hypercalciuria, Thrombocytopenia, Corneal opacity, Nephrolithiasis	ORPHA:666
Branchiooculofacial Syndrome	Microphthalmia, Hypospadias, Anophthalmia, Renal cyst, Ectopic thymus tissue, Cataract, Cryptorch...	OMIM:113620
Teebi-Shaltout Syndrome	Microphthalmia, Hydronephrosis, Horseshoe kidney, Ureteral stenosis	OMIM:272950
Neu-Laxova Syndrome 1	Microphthalmia, Pterygium, Bifid uterus, Cataract, Cryptorchidism	OMIM:256520
Monosomy 9P	Microphthalmia, Hypospadias, Ureteropelvic junction obstruction, Ambiguous genitalia, Cryptorchidism	ORPHA:261112
Van Den Ende-Gupta Syndrome	Sclerocornea	OMIM:600920
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Decreased testicular size, Hydronephrosis, Micropenis, Opacification of the corneal stroma, Multi...	OMIM:615287
Witteveen-Kolk Syndrome	Microphthalmia, Decreased response to growth hormone stimulation test, Hypospadias, Phimosis, Ani...	OMIM:613406
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Microphthalmia, Urinary incontinence, Iris atrophy, Bifid scrotum, Ectopia pupillae, Duplication ...	ORPHA:261552
Pallister-Hall Syndrome	Microphthalmia, Ectopic kidney, Thyroid hypoplasia, Small scrotum, Hydrometrocolpos, Hypospadias,...	ORPHA:672
Holoprosencephaly 9	Decreased response to growth hormone stimulation test, Microphthalmia, Anterior pituitary agenesi...	OMIM:610829
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Hutchinson-Gilford Progeria Syndrome	Hypoplastic male external genitalia, Corneal opacity, Female hypogonadism, Corneal ulceration	ORPHA:740
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Microphthalmia, Astigmatism, Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pel...	ORPHA:261537
Hydrolethalus Syndrome 1	Microphthalmia, Adrenal gland dysgenesis, Hypospadias, Abnormal vagina morphology, Accessory sple...	OMIM:236680
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Hypospadias, Unilateral renal agenesis, Optic nerve hypoplasia, Pelvic ...	ORPHA:468631
Fraser Syndrome	Microphthalmia, Hypospadias, Hypoplasia of penis, Anophthalmia, Abnormal vagina morphology, Bicor...	ORPHA:2052
Stuve-Wiedemann Syndrome 1	Opacification of the corneal stroma	OMIM:601559
Microphthalmia With Limb Anomalies	Microphthalmia, True anophthalmia, Horseshoe kidney, Cryptorchidism	ORPHA:1106
Mowat-Wilson Syndrome	Microphthalmia, Astigmatism, Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pel...	ORPHA:2152
Aicardi Syndrome	Hepatoblastoma, Microphthalmia, Precocious puberty	ORPHA:50
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Cataract, Microphthalmia, Nuclear pulverulent cataract, Sutural cataract	OMIM:612474
Fontaine Progeroid Syndrome	Microphthalmia, Hypoplastic nipples, Absent nipple, Left ventricular hypertrophy, Small scrotum, ...	OMIM:612289
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Microphthalmia, Syndromic 1	Microphthalmia, Ciliary body coloboma, Hydroureter, Hypospadias, Anophthalmia, Microcornea, Renal...	OMIM:309800
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Recurrent corneal erosions, Corneal neovascularization, Hypospadias, Unilateral renal agenesis, K...	OMIM:308205
Holoprosencephaly 2	Microphthalmia, Anterior pituitary agenesis, Iris coloboma	OMIM:157170
Adams-Oliver Syndrome 1	Microphthalmia, Imperforate hymen, Supernumerary nipple	OMIM:100300
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Yunis-Varon Syndrome	Hypospadias, Hypoplastic nipples, Absent nipple, Sclerocornea, Cataract, Cryptorchidism, Micropenis	OMIM:216340
Treacher Collins Syndrome 1	Bilateral microphthalmos, Cryptorchidism, Abnormal parotid gland morphology	OMIM:154500
8Q24.3 Microdeletion Syndrome	Bilateral microphthalmos, Unilateral renal agenesis, Optic nerve hypoplasia, Pelvic kidney, Vesic...	ORPHA:508488
Holoprosencephaly 1	Microphthalmia, Micropenis	OMIM:236100
Craniofacial Microsomia 1	Microphthalmia, Ectopic kidney, Anophthalmia, Vesicoureteral reflux, Ureteropelvic junction obstr...	OMIM:164210
Neuroblastoma	Elevated urinary catecholamine level, Anemia, Elevated urinary vanillylmandelic acid, Elevated ur...	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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