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Gene: Gpatch3 MGI:2442492

Gene Summary

Name:

G patch domain containing 3

Synonyms:

D930035B09Rik, Gpatc3

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
abnormal retina morphology	Gpatch3^em1(IMPC)Mbp	HOM	Early adult	4.56×10^-05
blind uterus	Gpatch3^em1(IMPC)Mbp	HOM	Early adult	0.00
microphthalmia	Gpatch3^em1(IMPC)Mbp	HOM	Early adult	0.00
small spleen	Gpatch3^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal spleen morphology	Gpatch3^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged spleen	Gpatch3^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal eye morphology	Gpatch3^em1(IMPC)Mbp	HOM	Early adult	0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

35 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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Human diseases caused by Gpatch3 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 Gpatch3 (0 diseases)
Human diseases predicted to be associated with Gpatch3 (651 diseases)

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

The table below shows human diseases predicted to be associated to Gpatch3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia, Chorioretinal dysplasia	OMIM:616335
Nanophthalmos	Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Retinal degeneration, Microphthalmia	OMIM:251700
Premature Ovarian Failure 12	Macular dystrophy, Microphthalmia	OMIM:616947
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Microphthalmia, Abnormality of retinal pigmentation	ORPHA:1574
Microphthalmia/Coloboma 10	Microphthalmia, Chorioretinal coloboma, Anophthalmia, Optic pit	OMIM:616428
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Microphthalmia, Isolated 5	Microphthalmia, Bone spicule pigmentation of the retina, Foveoschisis, Cystoid macular edema, Opt...	OMIM:611040
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia, Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opaci...	OMIM:305390
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Hepatomegaly	ORPHA:2432
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Microphthalmia/Coloboma 7	Microphthalmia, Inferior chorioretinal coloboma	OMIM:614497
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Microphthalmia, Macular exudate, Retinal neovascularization, Chorioretina...	ORPHA:891
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Cystoid macular degeneration, Retinal degeneration, Microphthalmia, Macular atrophy	OMIM:267760
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia, Retinal dystrophy, Retinal detachment, Abnormality of retinal pigmentation, Chori...	OMIM:251270
Nanophthalmos 4	Optic disc drusen, Microphthalmia	OMIM:615972
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Microphthalmia, Chorioretinal coloboma, Anophthalmia	OMIM:611638
Osteopetrosis, Autosomal Recessive 8	Optic atrophy, Hepatomegaly, Anemia, Unilateral microphthalmos, Thrombocytopenia, Splenomegaly	OMIM:615085
Idiopathic Uveal Effusion Syndrome	Microphthalmia, Retinal fold, Exudative retinal detachment, Subretinal fluid	ORPHA:209956
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Gombo Syndrome	Microphthalmia	OMIM:233270
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, External genital hypoplasia, Retinal coloboma, Hypogonadism, Cryptorchidism, Rod-...	ORPHA:363741
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti...	OMIM:312700
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Congenital Toxoplasmosis	Microphthalmia, Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Abnormality of retinal ...	ORPHA:858
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Foveal Hypoplasia 2	Hypoplasia of the fovea, Optic nerve misrouting, Microphthalmia, Foveal hyperpigmentation	OMIM:609218
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Microphthalmia, Isolated 4	Microphthalmia, Absent testis	OMIM:613094
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Combined Saposin Deficiency	Optic atrophy, Hepatomegaly, Splenomegaly	OMIM:611721
Microphthalmia, Isolated 8	Microphthalmia, True anophthalmia, Anophthalmia, Retinal detachment, Optic nerve hypoplasia, Reti...	OMIM:615113
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Retinal coloboma, Hypogonadism, Cryptorchidism, Rod-cone dystrophy	OMIM:601794
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Microphthalmia, Isolated 6	Microphthalmia, Retinal fold	OMIM:613517
Spondylometaphyseal Dysplasia, Axial	Optic atrophy, Cone/cone-rod dystrophy, Splenomegaly, Retinal degeneration, Rod-cone dystrophy	OMIM:602271
Immunodeficiency 104	Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Hepatocellular carcinoma	ORPHA:882
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia, Retinal dysplasia	OMIM:614830
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic atrophy, Microphthalmia, Retinopathy, Macular atrophy, Optic disc pallor	OMIM:616171
Sandhoff Disease	Splenomegaly, Hepatomegaly, Cherry red spot of the macula	ORPHA:796
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Fanconi Anemia, Complementation Group G	Microphthalmia, Anemia, Thrombocytopenia, Leukemia, Neutropenia	OMIM:614082
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomeg...	OMIM:607616
Congenital Rubella Syndrome	Microphthalmia, Jaundice, Anemia, Hepatomegaly, Abnormality of retinal pigmentation, Thrombocytop...	ORPHA:290
Gracile Bone Dysplasia	Microphthalmia, Aniridia, Ascites, Asplenia, Hypoplastic spleen, Micropenis	OMIM:602361
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Hepatomegaly, Optic disc pallor, Cryptorchidism	OMIM:613730
Hypereosinophilic Syndrome, Idiopathic	Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Immunodeficiency 84	B lymphocytopenia, Splenomegaly	OMIM:619437
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Hepatomegaly, Hepatic steatosis, Splenomegaly	OMIM:614480
Microphthalmia, Syndromic 12	Microphthalmia, Cryptorchidism, Bicornuate uterus, Anophthalmia	OMIM:615524
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia, Retinal dysplasia	OMIM:615771
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis	OMIM:271500
Cofs Syndrome	Optic atrophy, Microphthalmia, Abnormality of retinal pigmentation, Hypogonadism	ORPHA:1466
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Cone/cone-rod dystrophy, Splenomegaly, Pancytopenia	OMIM:614979
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:617068
Mmep Syndrome	Microphthalmia, Cryptorchidism	ORPHA:3434
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Chorioretinal coloboma	OMIM:120433
Matthew-Wood Syndrome	Annular pancreas, Microphthalmia, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Abnormal sple...	ORPHA:2470
Galactose Epimerase Deficiency	Jaundice, Splenomegaly, Hepatomegaly	ORPHA:79238
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly	ORPHA:417
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia, Hypogonadism	ORPHA:2528
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Optic atrophy, Microphthalmia, Retinal detachment, Chorioretinal coloboma	ORPHA:1473
Fanconi Anemia, Complementation Group J	Bone marrow hypocellularity, Microphthalmia	OMIM:609054
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Biemond Syndrome Type 2	Microphthalmia, Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism	ORPHA:141333
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Fryns Microphthalmia Syndrome	Unicornuate uterus, Microphthalmia, Anophthalmia	OMIM:600776
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Splenomegaly, Hypogonadism, Hepatic fibrosis	OMIM:613313
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy...	OMIM:618963
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Wolman Disease	Hepatomegaly, Splenomegaly	OMIM:620151
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Joubert Syndrome 33	Cone/cone-rod dystrophy, Splenomegaly	OMIM:617767
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Microphthalmia, Retinal dystrophy, Retinal detachment, Chorioretinal coloboma, Buphthalmos, Macul...	OMIM:212550
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly...	OMIM:603552
Galactosemia Iii	Jaundice, Splenomegaly, Hepatomegaly	OMIM:230350
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly	ORPHA:100025
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Cholestasis, Splenomegaly, Hepatomegaly	OMIM:620010
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Retinopathy, Thrombocytopenia,...	ORPHA:158029
Dihydropyrimidine Dehydrogenase Deficiency	Optic atrophy, Microphthalmia	OMIM:274270
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Congenital Fibrinogen Deficiency	Microphthalmia, Hemorrhagic ovarian cyst, Decreased testicular size, Splenic rupture, Right ventr...	ORPHA:335
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal B cell count	ORPHA:100024
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly	ORPHA:721
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Retinal dysplasia	ORPHA:324416
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Biliary tract abnormality, Splenomegaly, Neonatal cholestatic ...	ORPHA:79301
Microphthalmia, Syndromic 13	Microphthalmia, Chorioretinal coloboma	OMIM:300915
Vitreoretinochoroidopathy	Microphthalmia, Retinal detachment, Abnormality of chorioretinal pigmentation, Retinal arteriolar...	OMIM:193220
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Microphthalmia, Chorioretinal coloboma, Retinal dystrophy	ORPHA:231736
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:545
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Progressive Familial Intrahepatic Cholestasis	Jaundice, Cholestasis, Splenomegaly, Hepatomegaly	ORPHA:172
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ...	OMIM:269840
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Abnormal vitreous humor morphology, Isosexual precocious puberty, Retinal detachm...	ORPHA:2788
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis...	OMIM:616860
Craniotelencephalic Dysplasia	Optic atrophy, Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Congenital Primary Aphakia	Microphthalmia, Aniridia, Retinal dysplasia, Aplasia/Hypoplasia affecting the anterior segment of...	ORPHA:83461
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis	OMIM:619658
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he...	OMIM:615234
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen, Abnormal retinal morphology	ORPHA:89844
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Hepatomegaly, Pancreatitis, Hepatic steatosis, Microcytic anemia	OMIM:618805
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism	OMIM:602390
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Neonatal cholestatic liver disease, Splenomegaly	OMIM:214900
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly	OMIM:613101
Warburg Micro Syndrome 1	Optic atrophy, Microphthalmia, External genital hypoplasia, Cryptorchidism	OMIM:600118
Osteopetrosis, Autosomal Recessive 4	Optic atrophy, Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly, Optic disc ...	OMIM:611490
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Hypospadias, Hypoplasia of penis, Ascites, Splenomegaly	ORPHA:1046
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Splenomegaly, Acholic stools	OMIM:619868
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Xk Aprosencephaly Syndrome	Microphthalmia, Abnormal external genitalia	ORPHA:3469
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl...	ORPHA:2585
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Fetal Cytomegalovirus Syndrome	Optic atrophy, Jaundice, Anemia, Hepatomegaly, Chorioretinitis, Retinal hemorrhage, Thrombocytope...	ORPHA:294
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Copper accumulat...	OMIM:616828
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Portal hypertension, Splenomegal...	OMIM:616278
Cat-Eye Syndrome	Microphthalmia, Chorioretinal coloboma	ORPHA:195
Nephronophthisis 19	Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ...	OMIM:616217
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Hepatocellular carcinoma, Splenomegaly	OMIM:613490
Immunodeficiency 27A	Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged...	OMIM:209950
Immunodeficiency 109 With Lymphoproliferation	Absent circulating B cells, Generalized lymphadenopathy, Splenomegaly, Pancytopenia	OMIM:620282
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia	OMIM:218670
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly	ORPHA:75563
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia...	OMIM:235700
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ...	OMIM:619313
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Joubert Syndrome 22	Microphthalmia, Retinal dysplasia	OMIM:615665
Beta-Thalassemia	Hepatomegaly, Anemia, Cholelithiasis, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Hypogo...	ORPHA:848
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Amyloidosis, Familial Visceral	Hepatomegaly, Cholestasis, Splenomegaly	OMIM:105200
Refsum Disease	Retinopathy, Microphthalmia, Abnormality of retinal pigmentation, Splenomegaly	ORPHA:773
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Bili...	ORPHA:1414
Cholesteryl Ester Storage Disease	Cirrhosis, Jaundice, Splenomegaly, Hepatomegaly	ORPHA:75234
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso...	ORPHA:3226
Meckel Syndrome, Type 8	Ambiguous genitalia, Enlarged kidney, Microphthalmia, Anophthalmia	OMIM:613885
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Retinal dystrophy	OMIM:613155
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Optic atrophy, Hepatomegaly, Pancreatitis, Anemia, Thrombocytopenia, Splenomegaly, Neutropenia	ORPHA:79312
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega...	ORPHA:98848
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
Oculocerebrocutaneous Syndrome	Microphthalmia, Cryptorchidism, Anophthalmia	OMIM:164180
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocytopenia, Splenomeg...	OMIM:619463
Pierpont Syndrome	Microphthalmia, Cryptorchidism	ORPHA:487825
Lipodystrophy, Congenital Generalized, Type 3	Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly	OMIM:612526
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Pierpont Syndrome	Microphthalmia, Cryptorchidism, Micropenis	OMIM:602342
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Portal inflammation...	OMIM:602347
Norrie Disease	Optic atrophy, Microphthalmia, Retinal dysplasia, Retinal detachment, Hypoplasia of the iris, Bup...	OMIM:310600
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Optic atrophy, Microphthalmia, Retinal detachment, Chorioretinal lacunae, Chorioretinal dysplasia...	OMIM:152950
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
46,Xy Sex Reversal 3	Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la...	OMIM:612965
Spherocytosis, Type 4	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio	OMIM:618495
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp...	OMIM:615122
Microphthalmia, Syndromic 5	Microphthalmia, Retinal dystrophy, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Micropenis	OMIM:610125
Microphthalmia, Syndromic 9	Multilobulated spleen, Bilateral microphthalmos, Anophthalmia, Bicornuate uterus, Hypoplastic spl...	OMIM:601186
Microphthalmia/Coloboma 12	Microphthalmia, Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal colob...	OMIM:120200
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Temtamy Syndrome	Microphthalmia, Chorioretinal coloboma	ORPHA:1777
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Microphthalmia, Left ventricular hypertrophy	OMIM:613153
Leydig Cell Hypoplasia	Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Hypoplasia of the Leydi...	ORPHA:755
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8...	OMIM:150550
Sickle Cell Disease	Jaundice, Hepatomegaly, Cholelithiasis, Leukocytosis, Splenic infarction, Retinopathy, Target cel...	OMIM:603903
Oculogastrointestinal Neurodevelopmental Syndrome	Vaginal fistula, Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Joubert Syndrome 37	Microphthalmia, Hepatomegaly, Decreased testicular size, Cryptorchidism, Micropenis	OMIM:619185
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, Hypogonadotropic hypogonadism	ORPHA:1135
Microphthalmia, Syndromic 8	Microphthalmia, Cryptorchidism	OMIM:601349
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Walker-Warburg Syndrome	Optic atrophy, Microphthalmia, Retinal dystrophy, Retinal dysplasia, Retinal detachment, Anophtha...	ORPHA:899
Ornithine Transcarbamylase Deficiency	Splenomegaly	ORPHA:664
Mirage Syndrome	Anemia, Hypospadias, Hypergonadotropic hypogonadism, Decreased testicular size, Microphallus, Hyp...	OMIM:617053
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Leukemia	OMIM:602501
46,Xx Ovotesticular Difference Of Sex Development	Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r...	ORPHA:2138
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Retinal dystrophy, Anophthalmia, Chorioretinal coloboma, Cryptorchidism	ORPHA:139471
46,Xy Sex Reversal 11	Abnormal internal genitalia, Aplasia of the uterus, Urogenital sinus anomaly, Vanishing testis, G...	OMIM:273250
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hepatocellular carci...	ORPHA:64743
Trisomy 13	Optic atrophy, Microphthalmia, Anophthalmia, Displacement of the urethral meatus, Abnormal retina...	ORPHA:3378
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node ...	OMIM:602450
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly	ORPHA:59303
Braddock-Carey Syndrome 2	Microphthalmia, Thrombocytopenia	OMIM:619981
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia	ORPHA:79477
Lissencephaly 8	Optic atrophy, Microphthalmia	OMIM:617255
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Harderoporphyria	Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Splenomegaly, Hemolytic anemia	OMIM:618892
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Cold Agglutinin Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy, Hemolytic anemia	ORPHA:56425
Primary Myelofibrosis	Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte...	ORPHA:824
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole...	OMIM:617394
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microphthalmia, Hypoplasia of the uterus, Vaginal atresia	OMIM:617914
Stormorken Syndrome	Anemia, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Hypogonadotropic hypogonadism	ORPHA:48431
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Optic disc pallor	OMIM:300887
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly	OMIM:618107
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Abnormally large globe, Abnormal fallopian tube morphology, Pancreatic lymphangiect...	ORPHA:1655
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Fu...	OMIM:308240
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos...	ORPHA:846
Apolipoprotein C-Ii Deficiency	Lipemia retinalis, Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Fanconi Anemia, Complementation Group S	Ovarian carcinoma, Ovarian neoplasm, Microphthalmia, Anemia	OMIM:617883
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Nance-Horan Syndrome	Retinal detachment, Microphthalmia	ORPHA:627
Ciliary Dyskinesia, Primary, 53	Cardiomegaly, Hypoplastic spleen, Polysplenia, Abdominal situs inversus	OMIM:620642
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va...	ORPHA:168563
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Azoospermia, Hepatocellular carcinoma, Ascites, Testicular atrophy, Sple...	OMIM:235200
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ambiguous genitalia, Microphthalmia	ORPHA:93267
Micro Syndrome	Optic atrophy, Microphthalmia, Hypoplasia of penis, Hypoplastic labia minora, Retinal coloboma, C...	ORPHA:2510
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i...	OMIM:603909
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Neurooculocardiogenitourinary Syndrome	Cardiomegaly, Microphthalmia, Bilateral cryptorchidism	OMIM:618652
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Micropenis	OMIM:308350
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypersplenism, Macular atrophy	OMIM:230800
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen...	OMIM:612714
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Anemia, Reduced hematocrit, Hypospadias, Anemia of inadequate production, Persisten...	OMIM:613673
Glycogen Storage Disease Ixa1	Hepatomegaly, Splenomegaly	OMIM:306000
Congenital Disorder Of Glycosylation, Type Iq	Optic atrophy, Microphthalmia, Microcytic anemia	OMIM:612379
Kapur-Toriello Syndrome	Hypoplasia of penis, Microphthalmia, Hypoplastic labia majora, Retinal coloboma	ORPHA:2328
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Spondylo-Ocular Syndrome	Retinal detachment, Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:85194
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Hypoplasia of penis	ORPHA:2547
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, ...	OMIM:226990
Bresek Syndrome	Decreased testicular size, Optic nerve hypoplasia, Microphthalmia, Cryptorchidism	ORPHA:85284
Complete Androgen Insensitivity Syndrome	Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ...	ORPHA:99429
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
Wolman Disease	Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly	ORPHA:75233
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Cholesteryl Ester Storage Disease	Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension...	OMIM:278000
Partial Androgen Insensitivity Syndrome	Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Bifid scrotu...	ORPHA:90797
Anterior Segment Dysgenesis 5	Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris	OMIM:604229
Transaldolase Deficiency	Cirrhosis, Hepatomegaly, Anemia, Clitoral hypertrophy, Pancytopenia, Hepatosplenomegaly, Splenome...	OMIM:606003
Microphthalmia/Coloboma 9	Retinal detachment, Macular coloboma, Microphthalmia	OMIM:615145
Meckel Syndrome	Abnormal chorioretinal morphology, Optic atrophy, Microphthalmia, Accessory spleen, Anophthalmia,...	ORPHA:564
Mayer-Rokitansky-Kuster-Hauser Syndrome	Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina...	OMIM:277000
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Hypospadias, Retinopathy, Abnormal scrotum morphology, Small scrotum, Cryptorchidism	ORPHA:2505
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Bone marrow hypocellularity, Microphthalmia	OMIM:301108
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Beta-Thalassemia Intermedia	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Anemia of inadequate production, Hepatocellula...	ORPHA:231222
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Hepatomegaly	OMIM:619053
Oculoauricular Syndrome	Microphakia, Microphthalmia, Retinal detachment, Chorioretinal atrophy, Retinal coloboma, Cone/co...	OMIM:612109
Persistent Hyperplastic Primary Vitreous	Microphthalmia, Buphthalmos, Remnants of the hyaloid vascular system, Retinal fold, Tractional re...	ORPHA:91495
Warburg Micro Syndrome 4	Optic atrophy, Microphthalmia, Decreased testicular size, Small scrotum, Cryptorchidism, Micropenis	OMIM:615663
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ...	ORPHA:1916
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Rere-Related Neurodevelopmental Syndrome	Optic atrophy, Microphthalmia, Hypospadias, Chorioretinal coloboma, Cryptorchidism	ORPHA:494344
Hydrolethalus	Microphthalmia, Cryptorchidism, Abnormal fallopian tube morphology, Anophthalmia	ORPHA:2189
Hydatidiform Mole	Anemia, Enlarged uterus	ORPHA:99927
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Intrahepatic cholestasis, Splenomegaly, Hepatomegaly	OMIM:235555
Subaortic Stenosis-Short Stature Syndrome	Biliary tract abnormality, Microphthalmia	ORPHA:3191
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R...	OMIM:224120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Retinal degeneration, Microphthalmia, Abnormally large globe	OMIM:615249
Trichothiodystrophy 3, Photosensitive	Microphthalmia, Bilateral cryptorchidism, Abdominal adhesions, Lymphopenia, Neutropenia	OMIM:616395
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Cerebrooculofacioskeletal Syndrome 2	Small scrotum, Microphthalmia, Micropenis	OMIM:610756
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Retinal detachment, Hypopigmentation of the fundus, Microphthalmia	ORPHA:163649
Glycogen Storage Disease Ixc	Cirrhosis, Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly	OMIM:613027
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Baraitser-Winter Syndrome 1	Microphthalmia, Cryptorchidism, Micropenis, Chorioretinal coloboma	OMIM:243310
Fanconi Anemia, Complementation Group R	Bone marrow hypocellularity, Microphthalmia, Anemia	OMIM:617244
Warburg Micro Syndrome 3	Optic atrophy, Microphthalmia, Hypoplastic labia minora, Decreased testicular size, Small scrotum...	OMIM:614222
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Hepatosplenomegaly, Sp...	OMIM:618935
Meckel Syndrome, Type 5	Microphthalmia, Bile duct proliferation	OMIM:611561
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Splenomegaly, ...	OMIM:607765
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep...	ORPHA:457077
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic atrophy, Optic nerve hypoplasia, Microphthalmia, Retinal detachment	ORPHA:370959
Warburg Micro Syndrome 2	Optic atrophy, Microphthalmia, Small scrotum, Cryptorchidism, Micropenis, Hypoplastic labia majora	OMIM:614225
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Ascites, Portal hypertension, Splenomegaly, Peritonitis, Chole...	ORPHA:131
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Mosaic Trisomy 9	Microphthalmia, Hypoplastic female external genitalia, Abnormal liver lobulation, Abnormal fallop...	ORPHA:99776
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia, Cryptorchidism	OMIM:214150
46,Xy Sex Reversal 7	Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G...	OMIM:233420
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplastic iris stroma, Hypoplasia of the fovea, Macular hyp...	ORPHA:2334
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Bile duct proliferat...	OMIM:613812
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Retinal thinning, Microphthalmia, Abnormality of macular pigmentation, Retinal atrophy, Cone/cone...	OMIM:608940
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp...	OMIM:603554
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Splenomegaly	ORPHA:90037
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Lymphadenopathy, Hypoplasia of the iris, Thrombocytopenia, Splenomegaly, Hemolytic ...	ORPHA:169090
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia, Retinal pigment epithelial mottling	OMIM:614105
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia	OMIM:618398
Papillorenal Syndrome	Microphthalmia, Retinal detachment, Macular degeneration, Chorioretinal atrophy, Retinal coloboma...	OMIM:120330
Seckel Syndrome 2	Microphthalmia, Hypospadias	OMIM:606744
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Hypospadias, Hypoplasia of penis, Anophthalmia, Cryptorchidism	ORPHA:77298
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Adams-Oliver Syndrome 2	Optic atrophy, Microphthalmia	OMIM:614219
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Small scrotum, Microphthalmia, Cryptorchidism, Hypogonadism	ORPHA:228390
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Microphthalmia, Bone marrow hypocellularity, Neutropenia	OMIM:609053
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:85414
Kapur-Toriello Syndrome	Microphthalmia, Retinal coloboma, Cryptorchidism, Micropenis, Hypoplastic labia majora	OMIM:244300
Chediak-Higashi Syndrome	Jaundice, Neutropenia, Hemophagocytosis, Hepatomegaly, Anemia, Lymphadenopathy, Leukopenia, Splen...	OMIM:214500
Tetraamelia-Multiple Malformations Syndrome	Optic atrophy, Microphthalmia, Septo-optic dysplasia, Vaginal atresia, Cryptorchidism	ORPHA:3301
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
Moebius Syndrome	Decreased testicular size, Microphthalmia, Micropenis, Hypogonadotropic hypogonadism	OMIM:157900
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r...	OMIM:620367
Temtamy Syndrome	Microphthalmia, Chorioretinal coloboma	OMIM:218340
Oculopalatocerebral Syndrome	Microphthalmia, Remnants of the hyaloid vascular system	OMIM:257910
Otodental Syndrome	Microphthalmia, Lens coloboma, Retinal coloboma	ORPHA:2791
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Microphthalmia, Buphthalmos, Retinal nonattachment, Remnants of the hyaloid vascular system, Phth...	OMIM:221900
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microphthalmia	OMIM:614833
Hyperlipoproteinemia, Type I	Jaundice, Acute pancreatitis, Hepatosplenomegaly, Splenomegaly, Lipemia retinalis	OMIM:238600
Stromme Syndrome	Optic nerve hypoplasia, Microphthalmia, Retinal vascular tortuosity, Accessory spleen	OMIM:243605
Frontonasal Dysplasia 1	Microphthalmia	OMIM:136760
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Microphthalmia, Hypogonadism, Pigmentary retinopathy	OMIM:610651
Testicular Agenesis	Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi...	ORPHA:325124
Pelvis-Shoulder Dysplasia	Microphthalmia, Optic disc coloboma	OMIM:169550
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Hyperlipoproteinemia, Type Id	Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis, Lipemia retinalis	OMIM:615947
Renal-Hepatic-Pancreatic Dysplasia 1	Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Enlarged kidney, Cholestasis, Biliary cirrhosis...	OMIM:208540
Fanconi Anemia, Complementation Group E	Microphthalmia, Anemia, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypogonadism, Thromboc...	OMIM:600901
Fanconi Anemia, Complementation Group F	Microphthalmia, Anemia, Microphallus, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, ...	OMIM:603467
Ritscher-Schinzel Syndrome 3	Microphthalmia, Cryptorchidism, Chorioretinal coloboma	OMIM:619135
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Aplasia of the uterus, Aplasia of the fallopian tube, Aplasia of the...	OMIM:158330
Jacobsen Syndrome	Optic atrophy, Annular pancreas, Microphthalmia, Hypospadias, Labial hypoplasia, Clitoral hypopla...	OMIM:147791
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia, Cryptorchidism	OMIM:618494
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Retinal thinning, Microphthalmia, Retinal atrophy, Cone/cone-rod dystrophy, Abnormality of retina...	ORPHA:85167
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Meckel Syndrome, Type 2	Microphthalmia, Bile duct proliferation	OMIM:603194
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic atrophy, Microphthalmia, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Hyp...	OMIM:236670
Fanconi Anemia, Complementation Group A	Microphthalmia, Anemia, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypogonadism, Thromboc...	OMIM:227650
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Vaginal atresia, Anophthalmia	OMIM:248450
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Fanconi Anemia, Complementation Group C	Microphthalmia, Anemia, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypogonadism, Bone mar...	OMIM:227645
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Optic atrophy, Microphthalmia, Retinal dysplasia, Retinal dystrophy, Retinal detachment, Anophtha...	ORPHA:2526
Garg-Mishra Progeroid Syndrome	Microvesicular hepatic steatosis, Microphthalmia	OMIM:620601
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Hyper-Igd Syndrome	Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Rod...	OMIM:260920
Adams-Oliver Syndrome	Cirrhosis, Microphthalmia, Ascites, Portal hypertension, Thrombocytopenia, Leukopenia, Congenital...	ORPHA:974
Curry-Jones Syndrome	Microphthalmia, Optic disc coloboma	ORPHA:1553
Pierson Syndrome	Microphthalmia, Hypoplasia of the ciliary body, Retinal detachment, Remnants of the hyaloid vascu...	OMIM:609049
Cohen Syndrome	Optic atrophy, Microphthalmia, Abnormality of retinal pigmentation, Chorioretinal dystrophy, Cryp...	ORPHA:193
Pearson Syndrome	Hepatomegaly, Anemia, Pancytopenia, Reticulocytosis, Bone marrow hypocellularity, Macronodular ci...	ORPHA:699
Meckel Syndrome 14	Ambiguous genitalia, Hepatic fibrosis, Microphthalmia, Aplasia of the uterus	OMIM:619879
Microphthalmia With Linear Skin Defects Syndrome	Epispadias, Microphthalmia, Abnormal vitreous humor morphology, Clitoral hypertrophy, Hypospadias...	ORPHA:2556
Tetraamelia Syndrome 1	Microphthalmia, Hypoplasia of the fallopian tube, Asplenia, Vaginal atresia, Absent external geni...	OMIM:273395
Linear Skin Defects With Multiple Congenital Anomalies 1	Microphthalmia, Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Ovotestis, Chordee, ...	OMIM:309801
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia, Retinal dystrophy	OMIM:616538
Incontinentia Pigmenti	Optic atrophy, Microphthalmia, Retinal detachment, Retinal vascular proliferation, Leukocytosis, ...	OMIM:308300
Microphthalmia, Lenz Type	Microphthalmia, Hypospadias, Chorioretinal coloboma, Optic disc coloboma, Cryptorchidism	ORPHA:568
Meckel Syndrome, Type 4	Microphthalmia, Bile duct proliferation	OMIM:611134
Kenny-Caffey Syndrome, Type 2	Retinal calcification, Papilledema, Microphthalmia, Anemia	OMIM:127000
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis	OMIM:266810
Vacterl With Hydrocephalus	Microphthalmia, Abnormal fallopian tube morphology, Anophthalmia, Abnormal optic nerve morphology...	ORPHA:3412
Marden-Walker Syndrome	Microphthalmia, Cryptorchidism, Micropenis, Hypospadias	OMIM:248700
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia, Cryptorchidism	ORPHA:404440
Monosomy 18P	Microphthalmia	ORPHA:1598
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Anterior Segment Dysgenesis 2	Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia	OMIM:610256
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Joubert Syndrome 2	Microphthalmia, Retinal dystrophy, Hypoplastic male external genitalia, Chorioretinal coloboma, O...	OMIM:608091
Joubert Syndrome 14	Optic atrophy, Microphthalmia, Morning glory anomaly	OMIM:614424
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Microphthalmia, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Remnants of the hy...	OMIM:614643
Aicardi Syndrome	Optic atrophy, Microphthalmia, Retinal detachment, Precocious puberty, Abnormality of retinal pig...	ORPHA:50
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia, Anemia, Accessory spleen, Portal hypertension, Severe B lymphocytopenia, Macronod...	OMIM:620005
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Optic atrophy, Microphthalmia, Retinal detachment, Retinal dysplasia	OMIM:253800
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Microphthalmia With Limb Anomalies	Microphthalmia, Unilateral cryptorchidism, Anophthalmia	OMIM:206920
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma	OMIM:618914
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy...	ORPHA:288
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Hepatomegaly, Rectovaginal fistula, Anophthalmia, Perineal fistula, Abnormality o...	ORPHA:2538
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Oculofaciocardiodental Syndrome	Retinal detachment, Microphthalmia	ORPHA:2712
Cockayne Syndrome Type 3	Microphthalmia, Hepatomegaly, Retinal dystrophy, Retinal atrophy, Retinal hemorrhage, Splenomegal...	ORPHA:90324
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Sandestig-Stefanova Syndrome	Microphthalmia	OMIM:618804
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Retinal coloboma	OMIM:618571
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Aplasia of the vagina, Aplasia of the uterus, Uterus didelphys, Septate vagina, Pseudopapilledema	OMIM:146255
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia, Cryptorchidism, Micropenis, Pigmentary retinopathy	OMIM:614230
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos, Cryptorchidism	ORPHA:369891
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Optic nerve hypoplasia, Bilateral microphthalmos	OMIM:607597
Fanconi Anemia, Complementation Group D2	Annular pancreas, Microphthalmia, Anemia, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypo...	OMIM:227646
Chromosome 13Q33-Q34 Deletion Syndrome	Penoscrotal transposition, Microphthalmia, Hypospadias, Bifid scrotum, Left ventricular hypertrop...	OMIM:619148
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia, Cryptorchidism, Micropenis	OMIM:241410
46,Xx Sex Reversal 2	Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Hypoplasia...	OMIM:278850
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Hypospadias, Clitoral hypertrophy	OMIM:616449
Fanconi Anemia, Complementation Group L	Microphthalmia, Anemia, Aplasia of the uterus, Bone marrow hypocellularity, Micropenis	OMIM:614083
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Small scrotum, Microphthalmia, Cryptorchidism	ORPHA:2728
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Trichothiodystrophy 4, Nonphotosensitive	Optic atrophy, Microphthalmia	OMIM:234050
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo...	ORPHA:90793
Holoprosencephaly	Optic atrophy, Microphthalmia, Anophthalmia, Hypoplasia of penis, Retinopathy, Chorioretinal colo...	ORPHA:2162
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos, Abnormal retinal morphology	OMIM:610758
Cockayne Syndrome	Optic atrophy, Microphthalmia, Hepatomegaly, Retinal dystrophy, Retinal atrophy, Pigmentary retin...	ORPHA:191
Histiocytoid Cardiomyopathy	Optic atrophy, Microphthalmia, Hepatomegaly, Congenital aphakia, Cardiomegaly, Polycystic ovaries	ORPHA:137675
Cockayne Syndrome B	Optic atrophy, Microphthalmia, Hepatomegaly, Hypoplasia of the iris, Splenomegaly, Cryptorchidism...	OMIM:133540
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Stomatocytosis, Hemolytic anemia	OMIM:153670
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Microphthalmia, Syndromic 3	Microphthalmia, Hypospadias, Anophthalmia, Optic nerve hypoplasia, Optic nerve aplasia, Cryptorch...	OMIM:206900
Rodrigues Blindness	Microphthalmia	OMIM:268320
Martsolf Syndrome 1	Microphthalmia, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism	OMIM:212720
Steinfeld Syndrome	Absent gallbladder, Microphthalmia, Retinal coloboma	OMIM:184705
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Microphthalmia, Remnants of the hyaloid vascular system	ORPHA:2714
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233710
Meckel Syndrome, Type 1	Ambiguous genitalia, male, Microphthalmia, External genital hypoplasia, Accessory spleen, Aspleni...	OMIM:249000
Atelis Syndrome 2	Microphthalmia, Anemia, Remnants of the hyaloid vascular system, Thrombocytopenia, Vitreous hemor...	OMIM:620185
Fraser Syndrome 2	Ambiguous genitalia, Microphthalmia, Hypoplasia of the thymus	OMIM:617666
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Portal hypertension, Biliary hyperplasia, Sple...	ORPHA:567983
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cy...	OMIM:263200
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, Cryptorchidism	OMIM:612530
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Incontinentia Pigmenti	Abnormal chorioretinal morphology, Microphthalmia, Retinal detachment, Retinal vascular prolifera...	ORPHA:464
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, External genital hypoplasia, Hypoplasia of penis, Anophthalmia, Hypogonadism, Cry...	ORPHA:2250
Joubert Syndrome 21	Optic atrophy, Megalopapilla, Anophthalmia, Retinopathy, Splenomegaly	OMIM:615636
Lumbar Syndrome	Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl...	ORPHA:83628
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral...	ORPHA:168558
Pseudotrisomy 13 Syndrome	Microphthalmia, Cryptorchidism, Micropenis, Bicornuate uterus	OMIM:264480
Dubowitz Syndrome	Aplastic anemia, Microphthalmia, Hypospadias, Hypoplasia of the iris, Acute lymphoblastic leukemi...	OMIM:223370
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233690
Phace Association	Optic atrophy, Optic nerve hypoplasia, Microphthalmia, Increased retinal vascularity	OMIM:606519
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral...	ORPHA:289548
Frontofacionasal Dysplasia	Microphthalmia	ORPHA:1791
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Ocular albinism	ORPHA:1352
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Mosaic Trisomy 1	Hepatic agenesis, Penile hypospadias, Microphthalmia, Micropenis	ORPHA:1692
Encephalocraniocutaneous Lipomatosis	Microphthalmia, Cryptorchidism, Hypoplasia of the iris	OMIM:613001
Aicardi Syndrome	Optic atrophy, Microphthalmia, Retinal detachment, Precocious puberty, Chorioretinal lacunae, Opt...	OMIM:304050
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Nasopalpebral Lipoma-Coloboma Syndrome	Bilateral microphthalmos, Microphthalmia	ORPHA:2399
Fryns Syndrome	Microphthalmia, Hypospadias, Bifid scrotum, Bicornuate uterus, Ectopic pancreatic tissue, Shawl s...	OMIM:229850
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Pelvis-Shoulder Dysplasia	Ambiguous genitalia, Bilateral microphthalmos, Retinal coloboma	ORPHA:2839
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia, Hypoplasia of the uterus	OMIM:110100
Fryns Syndrome	Microphthalmia, Bicornuate uterus, Hypospadias, Cryptorchidism	ORPHA:2059
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Microphthalmia, Hypospadias, Anophthalmia	OMIM:615877
Fanconi Anemia	Microphthalmia, Anemia, Hypospadias, Abnormal preputium morphology, Azoospermia, Bicornuate uteru...	ORPHA:84
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Male urethral meatus stenosis, Hypospadias, Cholelithiasis	ORPHA:464738
Trisomy 18	Microphthalmia, Abnormality of retinal pigmentation, Abnormal morphology of female internal genit...	ORPHA:3380
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
8Q21.11 Microdeletion Syndrome	Microphthalmia, Cryptorchidism, Hypoplasia of penis	ORPHA:284160
Fanconi Anemia, Complementation Group N	Aplastic anemia, Microphthalmia, Acute myeloid leukemia	OMIM:610832
Cat Eye Syndrome	Microphthalmia, Chorioretinal coloboma, Biliary atresia	OMIM:115470
Ohdo Syndrome, X-Linked	Microphthalmia, Small scrotum, Shawl scrotum, Cryptorchidism, Micropenis	OMIM:300895
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Aplasia of the uterus, Uterus didelphys, Vaginal atresia, Septate vagina, Rod-cone dystrophy	ORPHA:2237
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Treacher-Collins Syndrome	Microphthalmia, Rectovaginal fistula, Hypoplasia of penis, Hypoplasia of the thymus, Small scrotu...	ORPHA:861
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia, Uterus didelphys, Absent gallbladder, Septate vagina, Micropenis	OMIM:617925
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Optic atrophy, Microphthalmia	OMIM:618727
Mayer-Rokitansky-Küster-Hauser Syndrome	Endometriosis, Aplasia of the uterus, Ectopic ovary, Hypoplasia of the vagina, Aplasia of the ovary	ORPHA:3109
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos, Anemia, Retinal calcification, Decreased testicular size, Papilledema	ORPHA:93325
Trichothiodystrophy	Gonadal dysgenesis, Bilateral microphthalmos, Anemia, Increased mean corpuscular hemoglobin conce...	ORPHA:33364
Frontonasal Dysplasia 2	Microphthalmia, Bilateral cryptorchidism	OMIM:613451
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Hypogonadism	OMIM:601675
Hydrolethalus Syndrome 1	Microphthalmia, Hypospadias, Abnormal vagina morphology, Accessory spleen, Bifid uterus	OMIM:236680
Duane-Radial Ray Syndrome	Microphthalmia, Optic disc hypoplasia, Retinal coloboma	OMIM:607323
22Q11.2 Deletion Syndrome	Optic atrophy, Microphthalmia, Hypospadias, Cholelithiasis, Abnormality of the tonsils, Hypoplasi...	ORPHA:567
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Microphthalmia, Hypospadias, Optic nerve hypoplasia, Retinal coloboma, Abnormal optic disc morpho...	ORPHA:508498
Hallermann-Streiff Syndrome	Microphthalmia, Cryptorchidism, Chorioretinal coloboma, Optic disc coloboma	OMIM:234100
Monosomy 9Q22.3	Retinopathy, Ovarian fibroma, Microphthalmia	ORPHA:77301
Cardiac-Urogenital Syndrome	Enlarged kidney, Penoscrotal hypospadias, Accessory spleen, Aplasia of the uterus, Bifid scrotum,...	OMIM:618280
2Q31.1 Microdeletion Syndrome	Microphthalmia, Cryptorchidism, Optic disc coloboma	ORPHA:251014
Norrie Disease	Abnormal chorioretinal morphology, Optic atrophy, Microphthalmia, Abnormal vitreous humor morphol...	ORPHA:649
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia, Ascites, Vaginal neoplasm, Acute lymphoblastic leukemia, Ambiguous genitalia	ORPHA:1052
3Q29 Microduplication Syndrome	Microphthalmia, Aniridia	ORPHA:251038
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia	ORPHA:35173
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Optic atrophy, Microphthalmia, Retinal dysplasia, Retinal atrophy, Hypoplasia of the retina, Buph...	OMIM:253280
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Hypospadias, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism, Hypoplast...	OMIM:603457
Bartsocas-Papas Syndrome 1	Microphthalmia, Hypoplastic labia majora, Hypoplastic male external genitalia, Bicornuate uterus,...	OMIM:263650
3Q29 Microdeletion Syndrome	Microphthalmia, Hypospadias	ORPHA:65286
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Macroorchidism, Unilateral microphthalmos, Hypospadias	OMIM:618874
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Optic atrophy, Annular pancreas, Microphthalmia, Hypospadias, Cryptorchidism	OMIM:616975
Galloway-Mowat Syndrome 1	Optic atrophy, Microphthalmia, Hypoplasia of the iris	OMIM:251300
Degcags Syndrome	Microphthalmia, Hepatomegaly, Anemia, Iron deficiency anemia, Hypospadias, Pancytopenia, Ambiguou...	OMIM:619488
Cousin Syndrome	Ambiguous genitalia, male, Microphthalmia, Ambiguous genitalia, female	OMIM:260660
Thrombocytopenia-Absent Radius Syndrome	Aplasia of the uterus, Thrombocytopenia	ORPHA:3320
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Premature Aging Syndrome, Penttinen Type	Microphthalmia, Hypermyelinated retinal nerve fibers	OMIM:601812
Rothmund-Thomson Syndrome, Type 2	Annular pancreas, Microphthalmia, Hypogonadism, Cryptorchidism	OMIM:268400
Momo Syndrome	Bilateral microphthalmos, Chorioretinal coloboma	ORPHA:2563
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Retinal calcification, Vitreoretinopathy, Exudative retinopathy, Phthisis bulbi	OMIM:259770
Focal Dermal Hypoplasia	Microphthalmia, Chorioretinal coloboma, Hypoplasia of the iris	ORPHA:2092
Townes-Brocks Syndrome 2	Bifid uterus, Hypospadias, Rectovaginal fistula	OMIM:617466
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Hallermann-Streiff Syndrome	Microphthalmia, Cryptorchidism, Abdominal situs inversus	ORPHA:2108
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia, Aplasia of the thymus, Prolonged neonatal jaundice, Right ventricular hypertrophy...	OMIM:620186
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia, Hypospadias, Hypoplasia of penis, Ambiguous genitalia, Cryptorchidism	ORPHA:2166
1Q21.1 Microdeletion Syndrome	Microphthalmia, Cryptorchidism	ORPHA:250989
Microphthalmia, Syndromic 2	Microphthalmia, Hypospadias, Anophthalmia, Retinal detachment, Remnants of the hyaloid vascular s...	OMIM:300166
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia	OMIM:302960
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Ambiguous genitalia, Microphthalmia, Cryptorchidism	OMIM:616300
Pontocerebellar Hypoplasia Type 7	Optic atrophy, Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of th...	ORPHA:284339
Oeis Complex	Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Labial hypopl...	OMIM:258040
Pallister-Hall Syndrome	Microphthalmia, Decreased testicular size, Precocious puberty, Cryptorchidism, Micropenis	OMIM:146510
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Microphthalmia, Chorioretinal coloboma, Optic disc coloboma	ORPHA:959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia	OMIM:613150
Roberts Syndrome	Microphthalmia, Clitoral hypertrophy, Long penis, Thrombocytopenia, Cryptorchidism	ORPHA:3103
Mycophenolate Mofetil Embryopathy	Microphthalmia, Chorioretinal coloboma	ORPHA:268249
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Acrofrontofacionasal Dysostosis 1	Optic atrophy, Microphthalmia	OMIM:201180
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Retinoblastoma, Chorioretinal coloboma, Cryptorchidism, Micropenis	OMIM:613884
Basal Cell Nevus Syndrome 1	Ovarian carcinoma, Ovarian fibroma, Microphthalmia	OMIM:109400
Frontorhiny	Microphthalmia	ORPHA:391474
Charge Syndrome	Optic atrophy, Microphthalmia, Anophthalmia, Labial hypoplasia, Bifid scrotum, Abnormal morpholog...	ORPHA:138
Galloway-Mowat Syndrome 3	Microphthalmia	OMIM:617729
Fraser Syndrome 1	Bilateral microphthalmos, Clitoral hypertrophy, Hypospadias, Anophthalmia, Bicornuate uterus, Abn...	OMIM:219000
Fraser Syndrome	Microphthalmia, Hypospadias, Abnormal vagina morphology, Hypoplasia of penis, Anophthalmia, Bicor...	ORPHA:2052
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Hypospadias, Optic nerve hypoplasia, Microphallus, Attenuation of retin...	ORPHA:468631
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia, Hypospadias, Bifid scrotum, Clitoral hypoplasia, Cryptorchidism, Micropenis	OMIM:609945
Oculocerebrorenal Syndrome Of Lowe	Microphthalmia, Anemia, Azoospermia, Cryptorchidism, Thrombocytopenia, Buphthalmos, Chorioretinal...	ORPHA:534
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Clitoral hypertrophy, Premature pubarche, Precocious puberty in females, Long penis, Abnormal ext...	ORPHA:90794
Thrombocytopenia-Absent Radius Syndrome	Anemia, Aplasia of the uterus, Leukocytosis, Thrombocytopenia, Hepatosplenomegaly, Eosinophilia, ...	OMIM:274000
Microphthalmia With Limb Anomalies	Optic atrophy, Microphthalmia, True anophthalmia, Cryptorchidism	ORPHA:1106
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Optic nerve hypoplasia, Aplasia of the uterus, Aplasia of the vagina	ORPHA:457284
Charge Syndrome	Microphthalmia, External genital hypoplasia, Anophthalmia, Labial hypoplasia, Hypoplastic male ex...	OMIM:214800
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia	OMIM:300952
Proboscis Lateralis	Microphthalmia, External genital hypoplasia, Anophthalmia, Optic nerve hypoplasia, Chorioretinal ...	ORPHA:141099
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Monosomy 9P	Ambiguous genitalia, Microphthalmia, Cryptorchidism, Hypospadias	ORPHA:261112
Phace Syndrome	Optic nerve hypoplasia, Retinal vascular malformation, Microphthalmia, Lens coloboma	ORPHA:42775
Okamoto Syndrome	Bifid uterus, Splenomegaly, Abnormally large globe	ORPHA:2729
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia	ORPHA:364577
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Yunis-Varon Syndrome	Microphthalmia, Bilateral microphthalmos, Clitoral hypertrophy, Hypospadias, Cardiomegaly, Crypto...	ORPHA:3472
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina	OMIM:271520
Teebi-Shaltout Syndrome	Microphthalmia	OMIM:272950
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Microphthalmia, Retinal hemorrhage, Hypoplasia of the iris, Peripapillary atrophy, Hypopigmentati...	OMIM:175780
Curry-Jones Syndrome	Microphthalmia	OMIM:601707
Lymphedema-Distichiasis Syndrome	Microphthalmia	OMIM:153400
Townes-Brocks Syndrome	Microphthalmia, Hypospadias, Rectovaginal fistula, Hypoplasia of penis, Abnormal vagina morpholog...	ORPHA:857
Skin Creases, Congenital Symmetric Circumferential, 2	Small scrotum, Microphthalmia, Cryptorchidism, Hypospadias	OMIM:616734
Focal Dermal Hypoplasia	Optic atrophy, Microphthalmia, Aniridia, Anophthalmia, Labial hypoplasia, Clitoral hypoplasia, Ch...	OMIM:305600
Wolf-Hirschhorn Syndrome	Hypospadias, Accessory spleen, Aplasia of the uterus, Precocious puberty, Rieger anomaly, Biliary...	OMIM:194190
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Microphthalmia	ORPHA:3186
Roberts-Sc Phocomelia Syndrome	Microphthalmia, Enlarged labia minora, Clitoral hypertrophy, Hypospadias, Accessory spleen, Long ...	OMIM:268300
Chromosome 17Q12 Deletion Syndrome	Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, Ovarian cyst, Cryptorchidism	OMIM:614527
Mend Syndrome	Microphthalmia, Cryptorchidism	ORPHA:401973
Fontaine Progeroid Syndrome	Microphthalmia, Left ventricular hypertrophy, Small scrotum, Cryptorchidism, Micropenis, Hypoplas...	OMIM:612289
Branchiooculofacial Syndrome	Microphthalmia, Hypospadias, Anophthalmia, Duplication of internal organs, Retinal coloboma, Ecto...	OMIM:113620
Oculodentodigital Dysplasia	Microphthalmia	OMIM:164200
Holoprosencephaly 9	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Micropenis	OMIM:610829
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Pallister-Hall Syndrome	Hydrometrocolpos, Microphthalmia, Hypospadias, Aplasia/Hypoplasia of the vagina, Decreased testic...	ORPHA:672
Myhre Syndrome	Microphthalmia, Cryptorchidism	OMIM:139210
Phocomelia, Schinzel Type	Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis	ORPHA:2879
Monosomy 13Q14	Microphthalmia, Retinoblastoma	ORPHA:1587
Renpenning Syndrome 1	Decreased testicular size, Microphthalmia, Phimosis, Hypospadias	OMIM:309500
Adams-Oliver Syndrome 1	Microphthalmia, Imperforate hymen	OMIM:100300
Traboulsi Syndrome	Microphthalmia	OMIM:601552
Microphthalmia, Syndromic 6	Microphthalmia, Retinal dystrophy, Anophthalmia, Female hypogonadism, Small scrotum, Cryptorchidism	OMIM:607932
Holoprosencephaly 7	Bilateral microphthalmos, Microphthalmia	OMIM:610828
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Bifid uterus, Abnormal reproductive system morphology	ORPHA:1521
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Microphthalmia, Hypospadias, Bifid scrotum, Asplenia, Retinal coloboma, Chordee, Webbed penis, Se...	ORPHA:261537
Neu-Laxova Syndrome 1	Microphthalmia, Bifid uterus, Cryptorchidism	OMIM:256520
Exstrophy-Epispadias Complex	Penoscrotal transposition, Epispadias, Bifid penis, Bifid scrotum, Absent penis, Bifid uterus, Cy...	ORPHA:322
Mowat-Wilson Syndrome	Microphthalmia, Hypospadias, Bifid scrotum, Asplenia, Retinal coloboma, Chordee, Webbed penis, Se...	ORPHA:2152
Limb-Mammary Syndrome	Aplasia of the uterus, Aplasia of the ovary	ORPHA:69085
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Optic atrophy, Microphthalmia, Hypospadias, Bifid scrotum, Asplenia, Retinal coloboma, Chordee, W...	ORPHA:261552
Neuroocular Syndrome	Lens coloboma, Microphthalmia, Hypoplasia of the fovea, Remnants of the hyaloid vascular system	OMIM:619539
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia	OMIM:608670
Ehlers-Danlos Syndrome, Vascular Type	Anemia, Cervical insufficiency, Cryptorchidism, Uterine prolapse, Cystocele, Uterine rupture	OMIM:130050
Witteveen-Kolk Syndrome	Microphthalmia, Hypospadias, Phimosis, Unilateral cryptorchidism, Microphallus, Male urethral mea...	OMIM:613406
Mowat-Wilson Syndrome	Microphthalmia, Hypospadias, Bifid scrotum, Chorioretinal coloboma, Cryptorchidism	OMIM:235730
8Q24.3 Microdeletion Syndrome	Optic nerve hypoplasia, Bilateral microphthalmos, Exocrine pancreatic insufficiency, Retinal colo...	ORPHA:508488
Frontofacionasal Dysplasia	Microphthalmia	OMIM:229400
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia	OMIM:612474
Lowe Oculocerebrorenal Syndrome	Microphthalmia, Cryptorchidism	OMIM:309000
Holoprosencephaly 2	Microphthalmia, Chorioretinal coloboma, Remnants of the hyaloid vascular system	OMIM:157170
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia	ORPHA:306542
Townes-Brocks Syndrome 1	Hypospadias, Rectovaginal fistula, Bifid scrotum, Rectoperineal fistula, Bifid uterus, Chorioreti...	OMIM:107480
Holoprosencephaly 1	Microphthalmia, Micropenis	OMIM:236100
Coffin-Siris Syndrome 1	Clitoral hypertrophy, Cryptorchidism, Aplasia of the uterus, Hypospadias	OMIM:135900
Treacher Collins Syndrome 1	Bilateral microphthalmos, Cryptorchidism	OMIM:154500
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Small scrotum, Cryptorchidism	OMIM:276820
Microphthalmia, Syndromic 1	Microphthalmia, Hypospadias, Anophthalmia, Chorioretinal coloboma, Optic disc coloboma, Cryptorch...	OMIM:309800
Loeys-Dietz Syndrome	Uterine rupture	ORPHA:60030
Vascular Ehlers-Danlos Syndrome	Hypospadias, Uterine rupture, Uterine prolapse, Cystocele, Cryptorchidism	ORPHA:286
Pallister-Killian Syndrome	Aplasia of the upper vagina, Hypospadias, Labial hypoplasia, Aplasia of the uterus, Small scrotum...	OMIM:601803
Craniofacial Microsomia 1	Microphthalmia, Anophthalmia	OMIM:164210

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 Gpatch3

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 Gpatch3.

No publications found that use IMPC mice or data for Gpatch3.

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MGI Allele	Allele Type	Produced
Gpatch3^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Gpatch3^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Gpatch3^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Gpatch3^{tm44407(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Gpatch3 MGI:2442492

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Gpatch3 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data