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Gene: Pole2 MGI:1197514

Gene Summary

Name:

polymerase (DNA directed), epsilon 2 (p59 subunit)

Synonyms:

DNA polymerase epsilon small subunit

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 uterus morphology	Pole2^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal heart morphology	Pole2^em1(IMPC)Mbp	HET	Late adult	0.00
absent seminal vesicle	Pole2^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal skin morphology	Pole2^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal liver morphology	Pole2^em1(IMPC)Mbp	HET	Late adult	0.00
blind uterus	Pole2^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal eye morphology	Pole2^em1(IMPC)Mbp	HET	Late adult	0.00
enlarged seminal vesicle	Pole2^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal spleen morphology	Pole2^em1(IMPC)Mbp	HET	Late adult	0.00
impaired glucose tolerance	Pole2^em1(IMPC)Mbp	HET	Late adult	6.35×10^-06
embryonic lethality prior to organogenesis	Pole2^em1(IMPC)Mbp	HOM	E9.5	0.00
microphthalmia	Pole2^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal midbrain development	Pole2^em1(IMPC)Mbp	HET	E9.5	0.00
small heart	Pole2^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal neural tube morphology	Pole2^em1(IMPC)Mbp	HET	E9.5	0.00
small testis	Pole2^em1(IMPC)Mbp	HET	Late adult	0.00
enlarged spleen	Pole2^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal heart morphology	Pole2^em1(IMPC)Mbp	HET	E9.5	0.00
abnormal embryo turning	Pole2^em1(IMPC)Mbp	HET	E9.5	0.00
preweaning lethality, complete penetrance	Pole2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal neural tube closure	Pole2^em1(IMPC)Mbp	HET	E9.5	0.00
increased prepulse inhibition	Pole2^em1(IMPC)Mbp	HET	Early adult	9.23×10^-05

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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

53 Images

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Gross Morphology Embryo E9.5

Images

17 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

19 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Histopathology

Images

2 Images

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Human diseases caused by Pole2 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 Pole2 (0 diseases)
Human diseases predicted to be associated with Pole2 (685 diseases)

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

The table below shows human diseases predicted to be associated to Pole2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Spina Bifida-Hypospadias Syndrome	Spinal dysraphism, Spina bifida	ORPHA:3176
Myelopathy, Htlv-1-Associated	Myelopathy	OMIM:159580
Gombo Syndrome	Delayed puberty, Microphthalmia, Abnormal heart morphology	OMIM:233270
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia, Hypoplastic left atrium, Ventricular septal defect, Bicornuate uter...	OMIM:615524
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Glucose intoler...	OMIM:235200
Mmep Syndrome	Microphthalmia, Cryptorchidism, Ventricular septal defect	ORPHA:3434
Microphthalmia, Isolated 4	Microphthalmia, Absent testis	OMIM:613094
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Seconda...	OMIM:613313
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Hepatomegaly, Ventricular septal defect, Cryptorchidism	OMIM:613730
Leydig Cell Hypoplasia	Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal...	ORPHA:755
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Azoospermia, Infertility, Cardiomyopathy, Splenomegaly, Amenorrhea, Dila...	OMIM:602390
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni...	ORPHA:983
46,Xy Sex Reversal 11	Decreased cirrculating antimullerian hormone circulation, Abnormal internal genitalia, Aplasia of...	OMIM:273250
Xk Aprosencephaly Syndrome	Atrial septal defect, Abnormal external genitalia, Ventricular septal defect, Microphthalmia	ORPHA:3469
Biemond Syndrome Type 2	Delayed puberty, Microphthalmia, Hypospadias, Hypogonadism, Hypogonadotropic hypogonadism	ORPHA:141333
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Hepatomegaly	ORPHA:2432
Congenital Toxoplasmosis	Microphthalmia, Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Elevated circulating hepatic tra...	ORPHA:858
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia, Hypogonadism	ORPHA:2528
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Cardiomyopathy, Splenomegaly, Hypogonadism	OMIM:608540
Congenital Rubella Syndrome	Atrial septal defect, Microphthalmia, Jaundice, Anemia, Hepatomegaly, Aplasia/Hypoplasia of the i...	ORPHA:290
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Congenital Fibrinogen Deficiency	Microphthalmia, Hemorrhagic ovarian cyst, Decreased testicular size, Splenic rupture, Right ventr...	ORPHA:335
Hypogonadism, Male	Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias	OMIM:241100
Hypereosinophilic Syndrome, Idiopathic	Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple...	OMIM:607685
Symptomatic Form Of Hfe-Related Hemochromatosis	Cirrhosis, Hepatomegaly, Erectile dysfunction, Hepatocellular carcinoma, Decreased libido, Testic...	ORPHA:465508
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Patent foramen ovale, Bilateral cryptorchidism, Cardiomegaly, Atrial septal defec...	OMIM:618652
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u...	ORPHA:90797
Isolated Follicle Stimulating Hormone Deficiency	Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay...	ORPHA:52901
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Hypoplastic left heart, Ventricular septal defect, Anencephaly, Spina bifida	ORPHA:2476
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Male hypogonadism, Hyperglycemia, Glucose intolerance, Hypergonadotropic hypogonadism	OMIM:307500
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis, Diabete...	OMIM:271500
Kennedy Disease	Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy	ORPHA:481
Matthew-Wood Syndrome	Annular pancreas, Microphthalmia, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Abnormal sple...	ORPHA:2470
Complete Androgen Insensitivity Syndrome	Blind vagina, Female external genitalia in individual with 46,XY karyotype, Delayed puberty, Abno...	ORPHA:99429
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, External genital hypoplasia, Hypogonadism, Cryptorchidism	ORPHA:363741
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va...	ORPHA:168563
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Hemochromatosis, Type 4	Cirrhosis, Hepatomegaly, Anemia, Glucose intolerance, Cardiomyopathy, Impotence, Impaired glucose...	OMIM:606069
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre...	OMIM:614841
Premature Ovarian Failure 12	Microphthalmia, Primary amenorrhea	OMIM:616947
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Unicornuate uterus	OMIM:600776
Pparg-Related Familial Partial Lipodystrophy	Cirrhosis, Hepatomegaly, Pancreatitis, Maternal diabetes, Secondary amenorrhea, Hypertrophic card...	ORPHA:79083
Adams-Oliver Syndrome 4	Atrial septal defect, Ventricular septal defect, Microphthalmia	OMIM:615297
Spermatogenic Failure, X-Linked, 2	Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia	OMIM:309120
Ovarian Dysgenesis 2	Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogon...	OMIM:300510
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Ovarian Dysgenesis 6	Absence of pubertal development, Primary amenorrhea, Hypoplasia of the uterus, Hypergonadotropic ...	OMIM:618078
Beta-Thalassemia	Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Splenomegaly...	ORPHA:848
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Cryptorchidism, Hypogonadism	OMIM:601794
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ...	ORPHA:90793
Meckel Syndrome, Type 8	Microphthalmia, Enlarged kidney, Anophthalmia, Pericardial effusion, Ambiguous genitalia	OMIM:613885
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concent...	OMIM:618805
Cofs Syndrome	Microphthalmia, Hypogonadism	ORPHA:1466
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	OMIM:616860
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent...	OMIM:614837
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Decreased fertility in fe...	ORPHA:1916
Oculogastrointestinal Neurodevelopmental Syndrome	Vaginal fistula, Bicuspid aortic valve, Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic fibr...	OMIM:614480
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Estrogen Resistance	Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Impai...	OMIM:615363
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Primary amenorrhea, Insulin resistance, Diabetes ...	OMIM:612526
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Oculocerebrocutaneous Syndrome	Microphthalmia, Cryptorchidism, Anophthalmia	OMIM:164180
Cardiac-Urogenital Syndrome	Enlarged kidney, Mesocardia, Aplasia of the uterus, Bifid scrotum, Coronary sinus enlargement, Dy...	OMIM:618280
46,Xx Ovotesticular Difference Of Sex Development	Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r...	ORPHA:2138
Premature Ovarian Failure 7	Gonadal dysgenesis, Clitoral hypertrophy, Premature ovarian insufficiency, Secondary amenorrhea, ...	OMIM:612964
Microphthalmia, Syndromic 8	Microphthalmia, Cryptorchidism	OMIM:601349
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T...	OMIM:269600
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,...	OMIM:620010
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bilia...	ORPHA:79301
Beta-Thalassemia Intermedia	Decreased liver function, Anemia of inadequate production, Splenomegaly, Hypogonadism, Decreased ...	ORPHA:231222
Warburg Micro Syndrome 1	Microphthalmia, External genital hypoplasia, Cryptorchidism	OMIM:600118
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Joubert Syndrome 37	Microphthalmia, Hepatomegaly, Decreased testicular size, Cryptorchidism, Micropenis	OMIM:619185
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
46,Xy Sex Reversal 3	Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la...	OMIM:612965
Transaldolase Deficiency	Decreased liver function, Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Clitoral hypertr...	OMIM:606003
Pierpont Syndrome	Microphthalmia, Cryptorchidism	ORPHA:487825
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Hepatic bridg...	OMIM:619658
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypoglycemia, Microphthalmia, Hypogonadotropic hypogonadism	ORPHA:48431
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Membranous subvalvular aortic stenosis, Biliary tract abnormality, Type II diabet...	ORPHA:3191
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ambiguous genitalia, Microphthalmia, Ventricular septal defect	ORPHA:93267
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma	ORPHA:882
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he...	OMIM:615234
Pierpont Syndrome	Microphthalmia, Cryptorchidism, Micropenis	OMIM:602342
Nanophthalmos	Microphthalmia	ORPHA:35612
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Spinocerebellar Ataxia 32	Infertility, Testicular atrophy, Azoospermia	OMIM:613909
Ovarian Dysgenesis 9	Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci...	OMIM:619665
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Pancreatitis, Secondary amenorrhea, Hypertrophic cardiomyopathy, Dysmenorrhea, Sple...	ORPHA:2348
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con...	OMIM:616828
Spinocerebellar Ataxia Type 32	Male infertility, Testicular atrophy, Azoospermia	ORPHA:276183
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Abnormal fallopian tube morphology, Abnormally large globe, Pancreatic lymphangiect...	ORPHA:1655
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Perrault Syndrome 6	Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas...	OMIM:617565
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Hypospadias, Hypoplasia of penis, Ascites, Splenomegaly	ORPHA:1046
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Dyskeratosis Congenita, Autosomal Recessive 2	Cirrhosis, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Testicular atrophy	OMIM:613987
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Elevated circulatin...	OMIM:602347
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Elevated circulating alanine aminotransferase concentrat...	OMIM:619868
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Craniorachischisis	Sirenomelia, Anencephaly, Myelomeningocele, Spinal dysraphism, Cervical spina bifida	ORPHA:63260
Gracile Bone Dysplasia	Microphthalmia, Aniridia, Ascites, Asplenia, Hypoplastic spleen, Micropenis	OMIM:602361
Meacham Syndrome	Hydrometrocolpos, Situs inversus totalis, Transposition of the great arteries, Abnormal fallopian...	ORPHA:3097
X-Linked Sideroblastic Anemia	Elevated circulating hepatic transaminase concentration, Glucose intolerance, Anemia, Splenomegaly	ORPHA:75563
Mosaic Trisomy 9	Hypoplastic female external genitalia, Microphthalmia, Abnormal liver lobulation, Abnormal fallop...	ORPHA:99776
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, Hypogonadotropic hypogonadism	ORPHA:1135
Fanconi Anemia, Complementation Group G	Microphthalmia, Anemia, Thrombocytopenia, Leukemia, Neutropenia	OMIM:614082
Microphthalmia, Syndromic 9	Multilobulated spleen, Bilateral microphthalmos, Anophthalmia, Hypoplastic left atrium, Truncus a...	OMIM:601186
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Delayed puberty, Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, Irregu...	ORPHA:264580
Ovarian Dysgenesis 7	Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu...	OMIM:618117
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole...	OMIM:617394
Glycogen Storage Disease Ixc	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fasting hypogly...	OMIM:613027
Premature Ovarian Failure 6	Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ...	OMIM:612310
Trisomy 13	Microphthalmia, Anophthalmia, Aplasia/Hypoplasia of the iris, Cryptorchidism, Displacement of the...	ORPHA:3378
Premature Ovarian Failure 3	Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus	OMIM:608996
Wolfram Syndrome 1	Diabetes insipidus, Megaloblastic anemia, Cardiomyopathy, Hypothyroidism, Sideroblastic anemia, T...	OMIM:222300
Premature Ovarian Failure 18	Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Hypopl...	OMIM:619203
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Microphthalmia, Anophthalmia	OMIM:611638
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Normosmic Congenital Hypogonadotropic Hypogonadism	Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Hypoplasia of the u...	ORPHA:432
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Cardiomyopathy, Spleno...	ORPHA:93476
Nephronophthisis 19	Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ...	OMIM:616217
Nanophthalmos 4	Microphthalmia	OMIM:615972
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Hypospadias, Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Crypto...	ORPHA:77298
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat...	OMIM:308700
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Anemia, Unilateral microphthalmos, Thrombocytopenia, Splenomegaly	OMIM:615085
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Elevated circulating hepatic tra...	OMIM:616278
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Microphthalmia/Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac...	ORPHA:289548
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac...	ORPHA:168558
Cholesteryl Ester Storage Disease	Leukopenia, Splenomegaly, Acute hepatic failure, Hepatic steatosis, Increased hepatic echogenicit...	OMIM:278000
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Neona...	OMIM:214900
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia, Patent foramen ovale, Cryptorchidism, Abnormal heart morphology, Atrial septal de...	OMIM:618494
Perrault Syndrome 3	Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated...	OMIM:614129
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Cholestasis, Impaired glucose tolerance, Ventricular septal defect, Splenomegaly, H...	OMIM:615630
Hydatidiform Mole	Menometrorrhagia, Anemia, Hyperthyroidism, Enlarged uterus	ORPHA:99927
Premature Ovarian Failure 13	Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen...	OMIM:617442
Amed Syndrome, Digenic	Anemia, Acute myeloid leukemia, Adrenal hypoplasia, Bone marrow hypocellularity, Thrombocytopenia...	OMIM:619151
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Elevated circulating hepatic tran...	ORPHA:158057
Kallmann Syndrome With Spastic Paraplegia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:308750
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Decreased fertility, Testicular atrophy	OMIM:313200
46,Xy Partial Gonadal Dysgenesis	Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor...	ORPHA:251510
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Abnormal se...	ORPHA:90796
Linear Skin Defects With Multiple Congenital Anomalies 2	Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Microphthalmia	OMIM:300887
Testicular Agenesis	Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Decreased s...	ORPHA:325124
Estrogen Resistance Syndrome	Breast hypoplasia, Absence of secondary sex characteristics, Hyperinsulinemia, Abnormal circulati...	ORPHA:785
Bresek Syndrome	Decreased testicular size, Optic nerve hypoplasia, Microphthalmia, Cryptorchidism	ORPHA:85284
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Cholesteryl Ester Storage Disease	Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Adrenal calcification, Hepatic failure	ORPHA:75234
Rere-Related Neurodevelopmental Syndrome	Microphthalmia, Hypospadias, Cryptorchidism, Abnormal heart morphology, Ventricular septal defect	ORPHA:494344
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Anemia, Reduced hematocrit, Hypospadias, Anemia of inadequate production, Persisten...	OMIM:613673
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Micropenis	OMIM:308350
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Ventricular septal defect, Leukemia	OMIM:602501
Ovarian Dysgenesis 5	Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone...	OMIM:617690
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis	OMIM:266810
Cerebrooculofacioskeletal Syndrome 1	Insulin resistance, Microphthalmia, Cryptorchidism	OMIM:214150
Mullerian Aplasia And Hyperandrogenism	Increased circulating androstenedione concentration, Aplasia of the vagina, Abnormal external gen...	OMIM:158330
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Bili...	ORPHA:1414
Myotonic Dystrophy 1	Hypogonadism, Testicular atrophy, Cholelithiasis	OMIM:160900
Hydrolethalus	Microphthalmia, Cryptorchidism, Abnormal fallopian tube morphology, Anophthalmia	ORPHA:2189
Foveal Hypoplasia 2	Microphthalmia, Hypoplasia of the fovea	OMIM:609218
Kapur-Toriello Syndrome	Microphthalmia, Hypoplasia of penis, Tetralogy of Fallot, Ventricular septal defect, Hypoplastic ...	ORPHA:2328
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Elevated circulating...	OMIM:613812
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Hypoplasia of penis	ORPHA:2547
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Glycogen Storage Disease Ixb	Hypoglycemia, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Elevated circulating hepatic transaminase...	ORPHA:64743
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Irregular menstruation, Elevated circula...	ORPHA:79240
Fanconi Anemia, Complementation Group E	Microphthalmia, Anemia, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypogonadism, Abnormal...	OMIM:600901
Renal-Hepatic-Pancreatic Dysplasia 1	Situs inversus totalis, Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Atrial septal defect, E...	OMIM:208540
Baraitser-Winter Syndrome 1	Microphthalmia, Aortic valve stenosis, Bicuspid aortic valve, Cryptorchidism, Micropenis	OMIM:243310
Mayer-Rokitansky-Kuster-Hauser Syndrome	Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina...	OMIM:277000
Pseudotrisomy 13 Syndrome	Microphthalmia, Tricuspid atresia, Dextrocardia, Adrenal hypoplasia, Ventricular septal defect, B...	OMIM:264480
Dominant Beta-Thalassemia	Delayed puberty, Splenomegaly, Decreased mean corpuscular volume, Adrenal insufficiency, Jaundice...	ORPHA:231226
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Fanconi Anemia, Complementation Group A	Male infertility, Microphthalmia, Anemia, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypo...	OMIM:227650
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Micropenis, Ectopic posteri...	OMIM:610125
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microphthalmia, Hypoplasia of the uterus, Vaginal atresia	OMIM:617914
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper...	OMIM:617068
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Pericar...	ORPHA:846
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Small scrotum, Microphthalmia, Cryptorchidism, Hypogonadism	ORPHA:228390
Mayer-Rokitansky-Küster-Hauser Syndrome	Endometriosis, Aplasia of the uterus, Ectopic ovary, Dyspareunia, Pulmonic stenosis, Hypoplasia o...	ORPHA:3109
Lipodystrophy, Congenital Generalized, Type 2	Decreased fertility, Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Decreased fertility in female...	OMIM:269700
Fanconi Anemia, Complementation Group S	Ovarian carcinoma, Ovarian neoplasm, Microphthalmia, Anemia	OMIM:617883
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:614842
Perrault Syndrome 4	Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus...	OMIM:615300
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Kapur-Toriello Syndrome	Microphthalmia, Cryptorchidism, Atrial septal defect, Ventricular septal defect, Micropenis, Hypo...	OMIM:244300
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Meckel Syndrome 14	Microphthalmia, Aplasia of the uterus, Ambiguous genitalia, Hepatic fibrosis, Single ventricle	OMIM:619879
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Small scrotum, Atrial septal defect, Cryptorchidism, Microphthalmia	ORPHA:2728
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Ventricular septal defect, Microphthalmia, Cryptorchidism, Abnormal heart morphology	ORPHA:404440
Sickle Cell Disease	Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomeg...	OMIM:603903
46,Xy Sex Reversal 7	Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, P...	OMIM:233420
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Cardiomyopathy	OMIM:613155
Beta-Thalassemia Major	Delayed puberty, Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume...	ORPHA:231214
Bone Marrow Failure Syndrome 5	Anemia, Erythroid hypoplasia, Pure red cell aplasia, Hypogonadism, Testicular atrophy	OMIM:618165
Meckel Syndrome	Situs inversus totalis, Microphthalmia, Accessory spleen, Anophthalmia, Asplenia, Male pseudoherm...	ORPHA:564
Ritscher-Schinzel Syndrome 3	Atrioventricular canal defect, Cryptorchidism, Microphthalmia	OMIM:619135
Warburg Micro Syndrome 4	Microphthalmia, Decreased testicular size, Small scrotum, Cryptorchidism, Micropenis	OMIM:615663
Lipodystrophy, Congenital Generalized, Type 1	Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Decreased fertility in females, Hyperinsulinemia, ...	OMIM:608594
Cerebrooculofacioskeletal Syndrome 2	Small scrotum, Microphthalmia, Micropenis	OMIM:610756
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ...	OMIM:619463
Renal Cysts And Diabetes Syndrome	Maturity-onset diabetes of the young, Elevated circulating hepatic transaminase concentration, Hy...	OMIM:137920
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Microphthalmia, Anemia, Microphallus, Bone...	OMIM:603467
Histiocytosis-Lymphadenopathy Plus Syndrome	Atrial septal defect, Decreased response to growth hormone stimulation test, Hepatomegaly, Lympha...	OMIM:602782
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, P...	ORPHA:398124
Trichothiodystrophy 3, Photosensitive	Microphthalmia, Bilateral cryptorchidism, Abdominal adhesions, Lymphopenia, Neutropenia	OMIM:616395
Osteoporosis-Pseudoglioma Syndrome	Isosexual precocious puberty, Microphthalmia	ORPHA:2788
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node ...	OMIM:602450
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Hepatomegaly, Hypertrophic cardiomyopathy	OMIM:619053
Encephalocraniocutaneous Lipomatosis	Microphthalmia, Ventricular septal defect, Hypoplasia of the iris, Atrial septal defect, Cryptorc...	OMIM:613001
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Chylopericardium, Ascites, Pulmonic stenosis, Splenomegaly	ORPHA:2414
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Cryptorchidism, Anophthalmia, Abnormality of the hypothalamus-pituitary axis	ORPHA:139471
Fanconi Anemia, Complementation Group J	Bone marrow hypocellularity, Microphthalmia	OMIM:609054
Moebius Syndrome	Decreased testicular size, Microphthalmia, Micropenis, Hypogonadotropic hypogonadism	OMIM:157900
Meckel Syndrome, Type 4	Atrial septal defect, Ventricular septal defect, Microphthalmia, Bile duct proliferation	OMIM:611134
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia...	OMIM:235700
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Aplasia of the uterus, Uterus didelphys, Parathyroid hypoplasia, Abnormal hea...	ORPHA:2237
Fanconi Anemia, Complementation Group I	Decreased response to growth hormone stimulation test, Microphthalmia, Optic nerve hypoplasia, Pa...	OMIM:609053
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos, Patent foramen ovale, Cryptorchidism, Abnormal heart morphology, Ventri...	ORPHA:369891
Poems Syndrome	Hepatomegaly, Erectile dysfunction, Lymphadenopathy, Abnormality of the endocrine system, Viscero...	ORPHA:2905
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Atrial septal defect, Microphthalmia, Anemia, Elevated circulating hepatic transaminase concentra...	OMIM:620005
Glycogen Storage Disease Ixa1	Hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly	OMIM:306000
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Clitoral hypertrophy, Abnormal ovarian physi...	ORPHA:90794
Blepharocheilodontic Syndrome 1	Neural tube defect	OMIM:119580
Adams-Oliver Syndrome 6	Truncus arteriosus, Portal hypertension, Splenomegaly, Hepatic fibrosis, Ventricular septal defect	OMIM:616589
Ornithine Transcarbamylase Deficiency	Hypoglycemia, Splenomegaly, Hepatic failure	ORPHA:664
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Marden-Walker Syndrome	Microphthalmia, Dextrocardia, Hypospadias, Cryptorchidism, Micropenis	OMIM:248700
8P11.2 Deletion Syndrome	Hypoplasia of penis, Azoospermia, Spherocytosis, Abnormality of the hypothalamus-pituitary axis, ...	ORPHA:251066
Satoyoshi Syndrome	Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Abnormality of...	ORPHA:3130
Seckel Syndrome 2	Microphthalmia, Hypospadias	OMIM:606744
Mody	Hepatocellular adenoma, Neonatal hypoglycemia, Pancreatic hypoplasia, Hypoinsulinemia, Abnormal c...	ORPHA:552
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Hypospadias, Abnormal scrotum morphology, Small scrotum, Cryptorchidism	ORPHA:2505
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly, Hyperparathyroidism	OMIM:618107
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Thyroiditis...	OMIM:619375
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Warburg Micro Syndrome 3	Microphthalmia, Hypoplastic labia minora, Decreased testicular size, Small scrotum, Micropenis	OMIM:614222
Fanconi Anemia, Complementation Group C	Microphthalmia, Anemia, Pancytopenia, Reticulocytopenia, Ventricular septal defect, Hypergonadotr...	OMIM:227645
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Microphthalmia, Hypospadias, Ovotestis, Histiocytoid cardiomyopathy, Chorde...	OMIM:309801
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Clitoral hypertrophy, Precocious puberty in ...	OMIM:202010
46,Xx Sex Reversal 2	Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, Decreased serum tes...	OMIM:278850
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Warburg Micro Syndrome 2	Microphthalmia, Small scrotum, Cryptorchidism, Micropenis, Hypoplastic labia majora	OMIM:614225
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Isolated Posterior Meningocele	Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meningocele	ORPHA:268810
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Pancreatic lymphangiectasis, Ventricular septal defect, Ascites, Splenomegaly, Pulm...	OMIM:235255
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia, Left ventricular hypertrophy	OMIM:613153
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Micro Syndrome	Delayed puberty, Microphthalmia, Hypoplasia of penis, Hypoplastic labia minora, Clitoral hypoplas...	ORPHA:2510
Refsum Disease	Microphthalmia, Cardiomyopathy, Splenomegaly	ORPHA:773
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Vaginal Atresia	Transverse vaginal septum, Pelvic mass, Vaginal hematocele, Imperforate hymen, Bicornuate uterus,...	ORPHA:65681
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Macrocephaly/Autism Syndrome	Hepatomegaly, Splenomegaly, Lymphopenia, Penile freckling, Hydrocele testis	OMIM:605309
Adams-Oliver Syndrome	Cirrhosis, Microphthalmia, Ascites, Portal hypertension, Thrombocytopenia, Leukopenia, Congenital...	ORPHA:974
Wolman Disease	Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Hepatic failure, Splenomegaly, Adrenal cal...	ORPHA:75233
Chromosome 1Q41-Q42 Deletion Syndrome	Ventricular septal defect, Microphthalmia, Cryptorchidism, Supernumerary nipple	OMIM:612530
Jacobsen Syndrome	Annular pancreas, Microphthalmia, Hypospadias, Labial hypoplasia, Ventricular septal defect, Clit...	OMIM:147791
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Microphthalmia, Congenital hypoparathyroid...	OMIM:241410
Lumbar Syndrome	Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl...	ORPHA:83628
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Elevated circu...	OMIM:607765
Alg3-Cdg	Cardiomyopathy, Neural tube defect	ORPHA:79321
Fanconi Anemia, Complementation Group D2	Annular pancreas, Microphthalmia, Anemia, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypo...	OMIM:227646
Cat-Eye Syndrome	Microphthalmia	ORPHA:195
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Splenic cyst, Pancr...	OMIM:610199
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia	OMIM:218670
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Cryptorchidism, Septo-optic dysplasia, Vaginal atresia	ORPHA:3301
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Basel-Vanagaite-Smirin-Yosef Syndrome	Clitoral hypertrophy, Microphthalmia, Hypospadias, Atrial septal defect, Ventricular septal defect	OMIM:616449
Gaucher Disease Type 1	Delayed puberty, Cirrhosis, Hepatomegaly, Anemia, Cholelithiasis, Pancytopenia, Biliary tract obs...	ORPHA:77259
Fanconi Anemia	Microphthalmia, Leukopenia, Hypogonadism, Abnormal cardiac septum morphology, Hypospadias, Azoosp...	ORPHA:84
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Hypoplasia of the uterus, Bicornuate uterus, Azoospermia	OMIM:601076
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Microphthalmia, Female infertility, Amenorrhea, Increased circul...	OMIM:110100
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Decreased testicular size, Splenomegaly, Hypogonadism, Decreased serum testosterone...	OMIM:201100
Frontonasal Dysplasia 1	Microphthalmia, Tetralogy of Fallot	OMIM:136760
Thrombocytopenia-Absent Radius Syndrome	Aplasia of the uterus, Thrombocytopenia, Tetralogy of Fallot, Abnormal cardiac septum morphology	ORPHA:3320
Meckel Syndrome, Type 5	Microphthalmia, Bile duct proliferation	OMIM:611561
Fryns Syndrome	Microphthalmia, Hypospadias, Bicornuate uterus, Tetralogy of Fallot, Cryptorchidism, Abnormal car...	ORPHA:2059
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Bone marrow hypocellularity, Microphthalmia, Decreased pineal volume	OMIM:301108
Histiocytoid Cardiomyopathy	Microphthalmia, Hepatomegaly, Hypoglycemia, Congenital aphakia, Cardiomegaly, Polycystic ovaries,...	ORPHA:137675
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Neonatal hypoglycemi...	OMIM:619418
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Pancreatitis, Secondary amenorrhea, Decreased serum leptin, Hypertrophic cardiomyop...	ORPHA:280365
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia	ORPHA:324416
Müllerian Aplasia And Hyperandrogenism	Increased serum testosterone level, Abnormal vagina morphology, Abnormality of the ovary, Primary...	ORPHA:247768
17Q12 Microduplication Syndrome	Atrial septal defect, Microphthalmia	ORPHA:261272
Microphthalmia, Syndromic 3	Microphthalmia, Hypospadias, Anophthalmia, Optic nerve hypoplasia, Anterior pituitary hypoplasia,...	OMIM:206900
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Chromosome 13Q33-Q34 Deletion Syndrome	Penoscrotal transposition, Microphthalmia, Hypospadias, Bifid scrotum, Pulmonic stenosis, Left ve...	OMIM:619148
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Pagod Syndrome	Situs inversus totalis, Abnormal testis morphology, Female pseudohermaphroditism, Abnormality of ...	ORPHA:991
Spondylo-Ocular Syndrome	Microphthalmia, Ventricular septal defect, Aplasia/Hypoplasia of the lens	ORPHA:85194
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos, Hypospadias, Mitral valve prolapse, Macroorchidism	OMIM:618874
Microphthalmia, Syndromic 11	Microphthalmia, Agenesis of pineal gland	OMIM:614402
Martsolf Syndrome 1	Microphthalmia, Cardiomyopathy, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism	OMIM:212720
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Periportal fibro...	OMIM:251880
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Isolated Biliary Atresia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transam...	ORPHA:30391
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ascit...	ORPHA:131
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Adams-Oliver Syndrome 5	Patent foramen ovale, Right atrial enlargement, Portal vein thrombosis, Pulmonic stenosis, Spleno...	OMIM:616028
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Aarskog-Scott Syndrome	Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve...	OMIM:305400
Infantile Liver Failure Syndrome 3	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Hep...	OMIM:618641
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia, Unilateral cryptorchidism	OMIM:206920
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Hepatomegaly, Rectovaginal fistula, Anophthalmia, Perineal fistula, Truncus arter...	ORPHA:2538
Seckel Syndrome 7	Central hypothyroidism, Hypoplasia of the uterus, Primary amenorrhea	OMIM:614851
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia, Spherocytosis, Splenomegaly	ORPHA:66518
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia, Hypospadias, Hypoplasia of penis, Adrenal hypoplasia, Thyroid hypoplasia, Abnorma...	ORPHA:2166
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepa...	OMIM:235555
Holoprosencephaly	Microphthalmia, Anterior hypopituitarism, Hypoplasia of penis, Diabetes insipidus, Anophthalmia, ...	ORPHA:2162
Braddock-Carey Syndrome 2	Microphthalmia, Thrombocytopenia	OMIM:619981
Woodhouse-Sakati Syndrome	Delayed puberty, Decreased response to growth hormone stimulation test, Hypoplasia of the uterus,...	ORPHA:3464
Meckel Syndrome, Type 1	Ambiguous genitalia, male, Microphthalmia, External genital hypoplasia, Accessory spleen, Adrenal...	OMIM:249000
Woodhouse-Sakati Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Premature ovarian insufficiency, ...	OMIM:241080
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Elevated circulating hepatic transaminase concentration, Microcytic anemia	OMIM:612379
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Situs inversus totalis, Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Cryptorchidism, Pulmonic st...	OMIM:612541
Walker-Warburg Syndrome	Microphthalmia, Cryptorchidism, Anophthalmia, Hypoplasia of penis	ORPHA:899
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Vaginal atresia, Anophthalmia	OMIM:248450
Cohen Syndrome	Delayed puberty, Microphthalmia, Ventricular septal defect, Mitral valve prolapse, Cryptorchidism...	ORPHA:193
Systemic-Onset Juvenile Idiopathic Arthritis	Pericarditis, Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:85414
Lissencephaly 8	Microphthalmia	OMIM:617255
Sandestig-Stefanova Syndrome	Perimembranous ventricular septal defect, Muscular ventricular septal defect, Microphthalmia	OMIM:618804
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:567983
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Pulmonic stenosis, Patent foramen ovale, Microphthalmia, Lens coloboma	OMIM:618914
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Aplasia of the vagina, Aplasia of the uterus, Uterus didelphys, Primary ameno...	OMIM:146255
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, External genital hypoplasia, Hypoplasia of penis, Anophthalmia, Hypogonadism, Cry...	ORPHA:2250
Meckel Syndrome, Type 2	Microphthalmia, Bile duct proliferation	OMIM:603194
Cat Eye Syndrome	Microphthalmia, Tricuspid atresia, Biliary atresia, Total anomalous pulmonary venous return, Pulm...	OMIM:115470
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia, Uterus didelphys, Tetralogy of Fallot, Absent gallbladder, Septate vagina, Microp...	OMIM:617925
Mosaic Trisomy 1	Microphthalmia, Hepatic agenesis, Penile hypospadias, Ventricular septal defect, Micropenis	ORPHA:1692
46,Xy Sex Reversal 4	Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Agonadism, Hypoplas...	OMIM:154230
Autoinflammatory Disease, Systemic, With Vasculitis	Jaundice, Hepatomegaly, Anemia, Congenital hydrocele, Parotitis, Increased B cell count, Cholesta...	OMIM:620376
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Satoyoshi Syndrome	Amenorrhea, Hypoplasia of the uterus	OMIM:600705
Microphthalmia With Linear Skin Defects Syndrome	Epispadias, Clitoral hypertrophy, Tricuspid valve prolapse, Microphthalmia, Hypospadias, Abnormal...	ORPHA:2556
Fryns Syndrome	Microphthalmia, Hypospadias, Bifid scrotum, Bicornuate uterus, Ventricular septal defect, Ectopic...	OMIM:229850
Tetraamelia Syndrome 1	Microphthalmia, Absent external genitalia, Hypoplasia of the fallopian tube, Asplenia, Vaginal at...	OMIM:273395
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic nerve hypoplasia, Microphthalmia, Cardiomyopathy	ORPHA:370959
Primary Sclerosing Cholangitis	Elevated circulating hepatic transaminase concentration, Cholestasis, Ascites, Acute hepatic fail...	ORPHA:171
Q Fever	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase con...	ORPHA:781
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Hypospadias, Cholelithiasis, Male urethral meatus stenosis, Atrial septal defect,...	ORPHA:464738
Vacterl With Hydrocephalus	Microphthalmia, Cryptorchidism, Abnormal fallopian tube morphology, Anophthalmia	ORPHA:3412
Hydrolethalus Syndrome 1	Adrenal gland dysgenesis, Microphthalmia, Hypospadias, Abnormal vagina morphology, Accessory sple...	OMIM:236680
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Stevenson-Carey Syndrome	Atrial septal defect, Microphthalmia	OMIM:611961
1Q21.1 Microdeletion Syndrome	Microphthalmia, Cryptorchidism, Abnormal cardiac septum morphology	ORPHA:250989
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val...	OMIM:231005
Adams-Oliver Syndrome 1	Microphthalmia, Imperforate hymen, Pulmonic stenosis, Aortic valve stenosis, Tetralogy of Fallot,...	OMIM:100300
Neutral Lipid Storage Disease With Myopathy	Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transaminase concentration, Card...	OMIM:610717
Fanconi Anemia, Complementation Group L	Microphthalmia, Anemia, Aplasia of the uterus, Bone marrow hypocellularity, Micropenis	OMIM:614083
Syndromic Diarrhea	Bicuspid aortic valve, Cirrhosis, Hepatomegaly, Atrial septal defect, Ventricular septal defect, ...	ORPHA:84064
8Q21.11 Microdeletion Syndrome	Microphthalmia, Cryptorchidism, Hypoplasia of penis	ORPHA:284160
Chromosome 17Q12 Duplication Syndrome	Atrial septal defect, Microphthalmia	OMIM:614526
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp...	OMIM:603554
Microphthalmia, Lenz Type	Microphthalmia, Cryptorchidism, Hypospadias	ORPHA:568
Pearson Syndrome	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Reticulocytosis, Bone ma...	ORPHA:699
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r...	OMIM:620367
Microphthalmia, Isolated 8	Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia	OMIM:615113
Trisomy 18	Microphthalmia, Ventricular septal defect, Atrial septal defect, Cryptorchidism, Abnormal morphol...	ORPHA:3380
Okamoto Syndrome	Abnormal left ventricle morphology, Abnormally large globe, Primum atrial septal defect, Aortic v...	ORPHA:2729
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Hypospadias, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonadotropic hyp...	OMIM:603457
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep...	ORPHA:457077
22Q11.2 Deletion Syndrome	Microphthalmia, Tricuspid atresia, Hypoparathyroidism, Hypospadias, Cholelithiasis, Abnormal aort...	ORPHA:567
Garg-Mishra Progeroid Syndrome	Microvesicular hepatic steatosis, Microphthalmia	OMIM:620601
3P25.3 Microdeletion Syndrome	Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Microphthalmia	ORPHA:435638
Monosomy 18P	Hypothyroidism, Microphthalmia	ORPHA:1598
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia, Cryptorchidism, Micropenis	OMIM:614230
Glycogen Storage Disease Xii	Delayed puberty, Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bi...	OMIM:611881
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Immunodeficiency 47	Normocytic anemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentrati...	OMIM:300972
3Q29 Microdeletion Syndrome	Microphthalmia, Subvalvular aortic stenosis, Hypospadias	ORPHA:65286
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia, Ascites, Vaginal neoplasm, Hypothyroidism, Acute lymphoblastic leukemia, Ambiguou...	ORPHA:1052
Hardikar Syndrome	Decreased liver function, Elevated circulating hepatic transaminase concentration, Intrahepatic b...	OMIM:301068
2Q31.1 Microdeletion Syndrome	Microphthalmia, Ventricular septal defect, Abnormality of the hypothalamus-pituitary axis, Atrial...	ORPHA:251014
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R...	OMIM:224120
Ohdo Syndrome, X-Linked	Microphthalmia, Small scrotum, Shawl scrotum, Cryptorchidism, Micropenis	OMIM:300895
Pallister-Hall Syndrome	Decreased response to growth hormone stimulation test, Microphthalmia, Adrenal hypoplasia, Panhyp...	OMIM:146510
Lymphatic Malformation 6	Intestinal lymphangiectasia, Ascites, Hypothyroidism, Splenomegaly, Atrial septal defect, Hydroce...	OMIM:616843
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia, Ventricular septal defect, Decreased fertility	OMIM:234050
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
Oculofaciocardiodental Syndrome	Microphthalmia, Mitral valve prolapse, Abnormal cardiac septum morphology	ORPHA:2712
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Solitary Median Maxillary Central Incisor	Decreased response to growth hormone stimulation test, Microphthalmia, Anterior hypopituitarism, ...	OMIM:147250
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Townes-Brocks Syndrome 2	Bifid uterus, Hypospadias, Rectovaginal fistula	OMIM:617466
Microphthalmia, Syndromic 2	Microphthalmia, Hypospadias, Dextrocardia, Anophthalmia, Ventricular septal defect, Hypothyroidis...	OMIM:300166
Oeis Complex	Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Labial hypopl...	OMIM:258040
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia, Patent foramen ovale, Hypoplastic nipples, Thyroid hypoplasia, Absent nipple, Con...	OMIM:620186
Familial Mediterranean Fever	Hepatomegaly, Leukocytosis, Pericarditis, Neutrophilia, Splenomegaly, Peritonitis, Orchitis	OMIM:249100
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Hypogonadism	OMIM:610651
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Microphthalmia, Hypospadias, Anophthalmia	OMIM:615877
Steinfeld Syndrome	Absent gallbladder, Microphthalmia, Abnormal heart morphology	OMIM:184705
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Exstrophy-Epispadias Complex	Penoscrotal transposition, Epispadias, Bifid penis, Bifid scrotum, Absent penis, Male sexual dysf...	ORPHA:322
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Vacuolated lymphocytes, Cardiomyopathy, Coronary artery stenosis, Spl...	ORPHA:565612
Heart And Brain Malformation Syndrome	Microphthalmia, Ventricular septal defect	OMIM:616920
Frontonasal Dysplasia 2	Microphthalmia, Bilateral cryptorchidism	OMIM:613451
Spherocytosis, Type 4	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Anterior Segment Dysgenesis 5	Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris	OMIM:604229
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cy...	OMIM:263200
Sacral Defect With Anterior Meningocele	Myeloschisis, Meningocele, Hydrocephalus, Dermal sinus tract, Myelomeningocele	OMIM:600145
Bartsocas-Papas Syndrome 1	Microphthalmia, Hypoplastic labia majora, Hypoplastic male external genitalia, Patent foramen ova...	OMIM:263650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia, Transposition of the great arteries, Pulmonic stenosis, Myocardial fibrosis, Atri...	OMIM:253800
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Microphthalmia, Hyperinsulinemia,...	OMIM:620185
Thrombocytopenia-Absent Radius Syndrome	Atrioventricular canal defect, Anemia, Aplasia of the uterus, Leukocytosis, Thrombocytopenia, Hep...	OMIM:274000
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am...	OMIM:157640
Treacher-Collins Syndrome	Abnormality of the adrenal glands, Microphthalmia, Rectovaginal fistula, Hypoplasia of penis, Thy...	ORPHA:861
Fanconi Anemia, Complementation Group R	Bone marrow hypocellularity, Microphthalmia, Anemia	OMIM:617244
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Perimembranous ventricular septal defect, Atrioventricular canal defect, Microphthalmia, Hypospad...	ORPHA:508498
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Abnormal heart morphology	OMIM:618571
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Thyroid C cell hyperplasia, Microphthalmia, Dilated cardiomyopathy	OMIM:300952
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Supernumerary nipple, Patent foramen ovale, Cryptorchidism, Ventricular septal de...	OMIM:613884
Fetal Alcohol Syndrome	Atrial septal defect, Microphthalmia	ORPHA:1915
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Degcags Syndrome	Microphthalmia, Hepatomegaly, Anemia, Iron deficiency anemia, Hypospadias, Pancytopenia, Ambiguou...	OMIM:619488
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Mend Syndrome	Aortic valve stenosis, Microphthalmia, Cryptorchidism, Abnormal heart morphology	ORPHA:401973
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Temtamy Syndrome	Microphthalmia	OMIM:218340
Tyrosinemia, Type I	Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Enlarge...	OMIM:276700
Glycogen Storage Disease Ib	Delayed puberty, Enlarged kidney, Hepatomegaly, Pancreatitis, Elevated circulating hepatic transa...	OMIM:232220
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Annular pancreas, Microphthalmia, Hypospadias, Patent foramen ovale, Cryptorchidism, Ventricular ...	OMIM:616975
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy...	ORPHA:288
Liver Disease, Severe Congenital	Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Lymphocytosis, ...	OMIM:619991
Meckel Syndrome 12	Hypoplasia of the uterus, Vaginal atresia	OMIM:616258
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia, Supernumerary nipple	OMIM:620098
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos, Abnormal heart morphology	OMIM:610758
Phace Association	Microphthalmia, Optic nerve hypoplasia, Congenital hypothyroidism, Ventricular septal defect, Lin...	OMIM:606519
Gaucher Disease Type 3	Delayed puberty, Hepatomegaly, Anemia, Pancytopenia, Abnormal heart valve morphology, Mitral valv...	ORPHA:77261
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Acromesomelic Dysplasia 3	Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated...	OMIM:609441
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Hypogonadism	OMIM:601675
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Fanconi Anemia, Complementation Group N	Aplastic anemia, Microphthalmia, Acute myeloid leukemia, Atrial septal defect, Ventricular septal...	OMIM:610832
Myoectodermal Gonadal Dysgenesis Syndrome	Gonadal dysgenesis, Accessory spleen, Clitoral hypoplasia, Elevated circulating follicle stimulat...	OMIM:618419
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Fraser Syndrome 2	Ambiguous genitalia, Microphthalmia, Hypoplasia of the thymus	OMIM:617666
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Joubert Syndrome 14	Microphthalmia, Ventricular septal defect	OMIM:614424
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Charge Syndrome	Delayed puberty, Microphthalmia, Pulmonic stenosis, Dysplastic tricuspid valve, Lymphopenia, Decr...	OMIM:214800
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Primary hypothyroidism, Ascites, Urethrovaginal fistula, Splenomegaly, Sept...	OMIM:243800
Basal Cell Nevus Syndrome 1	Microphthalmia, Cardiac rhabdomyoma, Ovarian fibroma, Cardiac fibroma, Ovarian carcinoma	OMIM:109400
Steinert Myotonic Dystrophy	Decreased response to growth hormone stimulation test, Hyperinsulinemia, Abnormality of thyroid p...	ORPHA:273
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Abnormal cardiac septum morphology	ORPHA:1352
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Cockayne Syndrome B	Microphthalmia, Hepatomegaly, Hypoplasia of the iris, Splenomegaly, Cryptorchidism, Micropenis	OMIM:133540
Dubowitz Syndrome	Aplastic anemia, Microphthalmia, Hypospadias, Hypoplasia of the iris, Acute lymphoblastic leukemi...	OMIM:223370
Hallermann-Streiff Syndrome	Hypothyroidism, Microphthalmia, Cryptorchidism, Abdominal situs inversus	ORPHA:2108
Rothmund-Thomson Syndrome, Type 2	Annular pancreas, Cryptorchidism, Hypogonadism, Microphthalmia	OMIM:268400
Lesch-Nyhan Syndrome	Megaloblastic anemia, Testicular atrophy	OMIM:300322
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Microphthalmia, Optic nerve hypoplasia, Hypoplastic male external genitalia, Buphthalmos, Cryptor...	OMIM:236670
Pontocerebellar Hypoplasia Type 7	Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro...	ORPHA:284339
Charge Syndrome	Delayed puberty, Abnormality of the adrenal glands, Abnormal aortic valve morphology, Microphthal...	ORPHA:138
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Townes-Brocks Syndrome	Delayed puberty, Microphthalmia, Hypospadias, Rectovaginal fistula, Hypoplasia of penis, Abnormal...	ORPHA:857
Joubert Syndrome 2	Hypoplastic male external genitalia, Microphthalmia	OMIM:608091
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplastic iris stroma, Hypoplasia of the fovea, Macular hyp...	ORPHA:2334
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Pallister-Hall Syndrome	Microphthalmia, Thyroid hypoplasia, Small scrotum, Central adrenal insufficiency, Hydrometrocolpo...	ORPHA:672
Wolf-Hirschhorn Syndrome	Hypospadias, Accessory spleen, Aplasia of the uterus, Ventricular septal defect, Precocious puber...	OMIM:194190
3Q29 Microduplication Syndrome	Microphthalmia, Ventricular septal defect, Aniridia	ORPHA:251038
Chromosome 17Q12 Deletion Syndrome	Elevated circulating hepatic transaminase concentration, Aplasia of the vagina, Aplasia of the ut...	OMIM:614527
Incontinentia Pigmenti	Breast hypoplasia, Microphthalmia, Breast aplasia, Hypoplastic nipples, Leukocytosis, Hypoplasia ...	OMIM:308300
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia, Hypospadias, Bifid scrotum, Total anomalous pulmonary venous return, Clitoral hyp...	OMIM:609945
Cousin Syndrome	Ambiguous genitalia, male, Microphthalmia, Ambiguous genitalia, female	OMIM:260660
Phace Syndrome	Microphthalmia, Optic nerve hypoplasia, Hypothyroidism, Abnormal heart morphology, Tetralogy of F...	ORPHA:42775
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Jaundice, Cholangitis, Periportal fibrosis, Cholestasis, Ascites, Portal hyperte...	ORPHA:731
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Yunis-Varon Syndrome	Clitoral hypertrophy, Microphthalmia, Bilateral microphthalmos, Hypospadias, Ventricular septal d...	ORPHA:3472
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Trichothiodystrophy	Gonadal dysgenesis, Bilateral microphthalmos, Anemia, Increased mean corpuscular hemoglobin conce...	ORPHA:33364
Fraser Syndrome 1	Clitoral hypertrophy, Bilateral microphthalmos, Hypospadias, Anophthalmia, Bicornuate uterus, Abn...	OMIM:219000
Limb-Mammary Syndrome	Breast aplasia, Aplasia of the uterus, Hypoplastic nipples, Absent nipple, Bilateral breast hypop...	ORPHA:69085
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Ambiguous genitalia, Microphthalmia, Cryptorchidism	OMIM:616300
Holoprosencephaly 1	Microphthalmia, Diabetes insipidus, Adrenal hypoplasia, Hypoglycemia, Micropenis, Single ventricle	OMIM:236100
Monosomy 9Q22.3	Cardiac fibroma, Ovarian fibroma, Microphthalmia	ORPHA:77301
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina	OMIM:271520
Congenital Primary Aphakia	Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita...	ORPHA:83461
X-Linked Dominant Chondrodysplasia Punctata	Neonatal hypoglycemia, Microphthalmia	ORPHA:35173
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia, Hypoplastic nipples	OMIM:156610
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Phocomelia, Schinzel Type	Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis	ORPHA:2879
Stromme Syndrome	Optic nerve hypoplasia, Microphthalmia, Accessory spleen	OMIM:243605
Renpenning Syndrome 1	Situs inversus totalis, Microphthalmia, Hypospadias, Phimosis, Decreased testicular size, Tetralo...	OMIM:309500
Frontofacionasal Dysplasia	Microphthalmia	ORPHA:1791
Roberts Syndrome	Clitoral hypertrophy, Microphthalmia, Long penis, Thrombocytopenia, Cryptorchidism	ORPHA:3103
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hydrometrocolpos, Atrioventricular canal defect, Hepatomegaly, Splenomegaly, Vaginal atresia	OMIM:617088
Chronic Visceral Acid Sphingomyelinase Deficiency	Delayed puberty, Decreased liver function, Cirrhosis, Hepatomegaly, Cholelithiasis, Acute promyel...	ORPHA:77293
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed puberty, Decreased response to growth hormone stimulation test, Hypoplasia of the uterus	OMIM:615866
Cockayne Syndrome	Delayed puberty, Microphthalmia, Hepatomegaly, Elevated circulating hepatic transaminase concentr...	ORPHA:191
Pelvis-Shoulder Dysplasia	Ambiguous genitalia, Bilateral microphthalmos	ORPHA:2839
Fontaine Progeroid Syndrome	Bicuspid aortic valve, Microphthalmia, Hypoplastic nipples, Absent nipple, Abnormal heart morphol...	OMIM:612289
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Optic nerve hypoplasia, Aplasia of the uterus, Aplasia of the vagina	ORPHA:457284
Focal Dermal Hypoplasia	Microphthalmia, Hypoplasia of the iris, Acute hepatic failure, Ventricular septal defect, Abnorma...	ORPHA:2092
Treacher Collins Syndrome 1	Bilateral microphthalmos, Abnormal parotid gland morphology, Cryptorchidism, Abnormal heart morph...	OMIM:154500
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Bifid uterus, Abnormal reproductive system morphology, Supernumerary nipple	ORPHA:1521
Myhre Syndrome	Microphthalmia, Ventricular septal defect, Aortic valve stenosis, Pericardial effusion, Atrial se...	OMIM:139210
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Hallermann-Streiff Syndrome	Microphthalmia, Cryptorchidism	OMIM:234100
Anterior Segment Dysgenesis 2	Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia	OMIM:610256
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Overriding aorta, Microphthalmia, Tetralogy of Fallot	ORPHA:3186
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Decreased fertility, Premature ovarian insufficiency, Lacrimal gland aplasia, Decreased circulati...	ORPHA:572333
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Optic nerve hypoplasia, Bilateral microphthalmos	OMIM:607597
Rodrigues Blindness	Microphthalmia	OMIM:268320
Aicardi Syndrome	Hepatoblastoma, Microphthalmia, Precocious puberty, Delayed puberty	ORPHA:50
Nasopalpebral Lipoma-Coloboma Syndrome	Bilateral microphthalmos, Microphthalmia	ORPHA:2399
Fraser Syndrome	Microphthalmia, Hypospadias, Hypoplasia of penis, Abnormal vagina morphology, Anophthalmia, Bicor...	ORPHA:2052
Pelvis-Shoulder Dysplasia	Microphthalmia	OMIM:169550
Neu-Laxova Syndrome 1	Microphthalmia, Transposition of the great arteries, Patent foramen ovale, Cryptorchidism, Bifid ...	OMIM:256520
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos, Abnormal circulating follicle-stimulating hormone concentration, Anemia...	ORPHA:93325
Duane-Radial Ray Syndrome	Atrial septal defect, Ventricular septal defect, Optic disc hypoplasia, Microphthalmia	OMIM:607323
Norrie Disease	Delayed puberty, Microphthalmia, Erectile dysfunction, Uterine rupture, Aplasia/Hypoplasia of the...	ORPHA:649
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating androstenedione concentration, Clitoral hypertrophy, Decreased circulating ...	OMIM:201750
Cockayne Syndrome Type 3	Microphthalmia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cardiomyop...	ORPHA:90324
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Roberts-Sc Phocomelia Syndrome	Clitoral hypertrophy, Enlarged labia minora, Microphthalmia, Hypospadias, Accessory spleen, Long ...	OMIM:268300
Frontorhiny	Hypopituitarism, Microphthalmia, Diabetes insipidus	ORPHA:391474
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Monosomy 9P	Ambiguous genitalia, Microphthalmia, Cryptorchidism, Hypospadias	ORPHA:261112
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Skin Creases, Congenital Symmetric Circumferential, 2	Small scrotum, Microphthalmia, Cryptorchidism, Hypospadias	OMIM:616734
Microphthalmia/Coloboma 9	Microphthalmia	OMIM:615145
X-Linked Intellectual Disability, Snyder Type	Testicular atrophy, Cryptorchidism, Hypospadias, Abnormality of the Leydig cells	ORPHA:3063
Incontinentia Pigmenti	Eosinophilia, Microphthalmia, Supernumerary nipple	ORPHA:464
Lymphedema-Distichiasis Syndrome	Microphthalmia, Ventricular septal defect, Tetralogy of Fallot	OMIM:153400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Ehlers-Danlos Syndrome, Vascular Type	Anemia, Cervical insufficiency, Cryptorchidism, Uterine prolapse, Mitral valve prolapse, Cystocel...	OMIM:130050
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Microphthalmia, Increased hepatic echogenicity	OMIM:608940
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Supernumerary nipple	ORPHA:1236
Teebi-Shaltout Syndrome	Aortic valve stenosis, Microphthalmia, Ventricular septal defect	OMIM:272950
Oculocerebrorenal Syndrome Of Lowe	Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Microph...	ORPHA:534
Aicardi Syndrome	Hepatoblastoma, Microphthalmia, Precocious puberty	OMIM:304050
Holoprosencephaly 9	Decreased response to growth hormone stimulation test, Microphthalmia, Anterior pituitary agenesi...	OMIM:610829
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Microphthalmia With Limb Anomalies	Microphthalmia, Cryptorchidism, True anophthalmia	ORPHA:1106
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Hypoparathyroidism, Anemia	OMIM:127000
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Proboscis Lateralis	Microphthalmia, External genital hypoplasia, Anophthalmia, Optic nerve hypoplasia, Ventricular se...	ORPHA:141099
Mowat-Wilson Syndrome	Microphthalmia, Hypospadias, Bifid scrotum, Ventricular septal defect, Pulmonic stenosis, Abnorma...	OMIM:235730
Townes-Brocks Syndrome 1	Hypospadias, Rectovaginal fistula, Bifid scrotum, Ventricular septal defect, Rectoperineal fistul...	OMIM:107480
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Hypospadias, Optic nerve hypoplasia, Microphallus, Cryptorchidism	ORPHA:468631
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia	OMIM:302960
Microphthalmia/Coloboma 12	Microphthalmia, Optic nerve aplasia	OMIM:120200
Premature Aging Syndrome, Penttinen Type	Elevated circulating thyroid-stimulating hormone concentration, Microphthalmia	OMIM:601812
Mycophenolate Mofetil Embryopathy	Microphthalmia, Ventricular septal defect	ORPHA:268249
Norrie Disease	Buphthalmos, Microphthalmia, Hypoplasia of the iris	OMIM:310600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia	OMIM:613150
Galloway-Mowat Syndrome 1	Microphthalmia, Hypoplasia of the iris	OMIM:251300
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Atrial septal defect, Microphthalmia, Leukemia, Anophthalmia	ORPHA:2526
Persistent Hyperplastic Primary Vitreous	Phthisis bulbi, Microphthalmia, Buphthalmos, Macular hypoplasia	ORPHA:91495
Galloway-Mowat Syndrome 3	Microphthalmia	OMIM:617729
Coffin-Siris Syndrome 1	Clitoral hypertrophy, Hypospadias, Aplasia of the uterus, Cryptorchidism, Tetralogy of Fallot, At...	OMIM:135900
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Microphthalmia, Hypospadias, Bifid scrotum, Asplenia, Pulmonic stenosis, Aortic valve stenosis, C...	ORPHA:261537
Oculodentodigital Dysplasia	Atrial septal defect, Microphthalmia	OMIM:164200
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Alström Syndrome	Elevated circulating hepatic transaminase concentration, Precocious puberty in females, Primary h...	ORPHA:64
Acro-Renal-Ocular Syndrome	Microphthalmia, Tetralogy of Fallot, Optic disc hypoplasia	ORPHA:959
Papillorenal Syndrome	Microphthalmia	OMIM:120330
Focal Dermal Hypoplasia	Microphthalmia, Aniridia, Anophthalmia, Labial hypoplasia, Hypoplastic nipples, Clitoral hypoplas...	OMIM:305600
Mowat-Wilson Syndrome	Microphthalmia, Hypospadias, Abnormal cardiac septum morphology, Bifid scrotum, Asplenia, Pulmoni...	ORPHA:2152
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Optic nerve hypoplasia, Microphthalmia	OMIM:614643
Microphthalmia, Syndromic 6	Microphthalmia, Anterior hypopituitarism, Anophthalmia, Adrenal hypoplasia, Female hypogonadism, ...	OMIM:607932
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Phthisis bulbi, Microphthalmia, Buphthalmos	OMIM:221900
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Linear Nevus Sebaceus Syndrome	Adenoma sebaceum, Microphthalmia	ORPHA:2612
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Microphthalmia, Hypospadias, Bifid scrotum, Ventricular septal defect, Asplenia, Pulmonic stenosi...	ORPHA:261552
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Oculoauricular Syndrome	Microphakia, Phthisis bulbi, Microphthalmia, Macular hypoplasia	OMIM:612109
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Witteveen-Kolk Syndrome	Decreased response to growth hormone stimulation test, Microphthalmia, Hypospadias, Phimosis, Uni...	OMIM:613406
Semilobar Holoprosencephaly	Hydrocephalus, Abnormal heart morphology, Neural tube defect	ORPHA:220386
Alobar Holoprosencephaly	Hydrocephalus, Abnormal heart morphology, Neural tube defect	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Hydrocephalus, Abnormal heart morphology, Neural tube defect	ORPHA:93926
Lobar Holoprosencephaly	Hydrocephalus, Abnormal heart morphology, Neural tube defect	ORPHA:93924
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia	ORPHA:364577
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Ventricular septal hypertrophy, Ventricular septal defect	OMIM:608670
Branchiooculofacial Syndrome	Microphthalmia, Hypospadias, Anophthalmia, Duplication of internal organs, Ectopic thymus tissue,...	OMIM:113620
Peters-Plus Syndrome	Bilobate gallbladder, Hypospadias, Ventricular septal defect, Clitoral hypoplasia, Pulmonic steno...	OMIM:261540
8Q24.3 Microdeletion Syndrome	Bilateral microphthalmos, Atrioventricular canal defect, Optic nerve hypoplasia, Truncus arterios...	ORPHA:508488
Peters Plus Syndrome	Hypospadias, Anterior hypopituitarism, Bicuspid pulmonary valve, Clitoral hypoplasia, Congenital ...	ORPHA:709
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Hypoplastic nipples, Small sc...	OMIM:276820
Curry-Jones Syndrome	Microphthalmia	OMIM:601707
Osteoporosis-Pseudoglioma Syndrome	Phthisis bulbi, Microphthalmia, Ventricular septal defect	OMIM:259770
Pierson Syndrome	Microphthalmia, Hypoplasia of the ciliary body, Hypoplasia of the iris, Rieger anomaly, Macular h...	OMIM:609049
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Perimembranous ventricular septal defect, Transposition of the great arteries, Muscular ventricul...	OMIM:612474
Lowe Oculocerebrorenal Syndrome	Microphthalmia, Cryptorchidism	OMIM:309000
Holoprosencephaly 7	Bilateral microphthalmos, Microphthalmia, Panhypopituitarism	OMIM:610828
Schinzel-Giedion Syndrome	Abnormal heart morphology, Neural tube defect, Umbilical hernia	ORPHA:798
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Oculo-Palato-Cerebral Syndrome	Microphthalmia	ORPHA:2714
Vascular Ehlers-Danlos Syndrome	Hypospadias, Uterine rupture, Abnormal heart valve morphology, Uterine prolapse, Mitral valve pro...	ORPHA:286
Loeys-Dietz Syndrome	Uterine rupture	ORPHA:60030
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia, Tetralogy of Fallot	ORPHA:306542
Pallister-Killian Syndrome	Aplasia of the upper vagina, Hypospadias, Labial hypoplasia, Aplasia of the uterus, Ventricular s...	OMIM:601803
Traboulsi Syndrome	Microphthalmia	OMIM:601552
Holoprosencephaly 2	Microphthalmia, Anterior pituitary agenesis, Diabetes insipidus, Adrenal hypoplasia, Single ventr...	OMIM:157170
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Neuroocular Syndrome	Patent foramen ovale, Microphthalmia, Hypoplasia of the fovea, Lens coloboma	OMIM:619539
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Microphthalmia, Syndromic 1	Microphthalmia, Hypospadias, Anophthalmia, Bicuspid aortic valve, Cryptorchidism	OMIM:309800
Monosomy 13Q14	Microphthalmia	ORPHA:1587
Frontofacionasal Dysplasia	Microphthalmia	OMIM:229400
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Microphthalmia, Hemolytic anemia, Hypoplasia of the iris	OMIM:175780
Craniofacial Microsomia 1	Microphthalmia, Ventricular septal defect, Tetralogy of Fallot, 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 Pole2

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 Pole2.

No publications found that use IMPC mice or data for Pole2.

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MGI Allele	Allele Type	Produced
Pole2^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Pole2^em1(IMPC)Mbp	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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Gene: Pole2 MGI:1197514

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Gross Morphology Embryo E9.5

X-ray

X-ray

X-ray

Histopathology

Human diseases caused by Pole2 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data