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Gene: Pja1 MGI:1101765

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Gene Summary

Name:
praja ring finger ubiquitin ligase 1
Synonyms:
N/A

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
abnormal ovary morphology Pja1em1(IMPC)Mbp HOM Early adult 0.00
increased B cell number Pja1PJA1 HEM Early adult 1.80×10-05
abnormal liver morphology Pja1em1(IMPC)Mbp HEM Early adult 0.00
microphthalmia Pja1em1(IMPC)Mbp HEM Early adult 0.00
microphthalmia Pja1em1(IMPC)Mbp HOM Early adult 0.00
decreased locomotor activity Pja1em1(IMPC)Mbp HOM Early adult 1.44×10-06
abnormal eye morphology Pja1em1(IMPC)Mbp HEM Early adult 0.00
enlarged ovary Pja1em1(IMPC)Mbp HOM Early adult 0.00
abnormal skin morphology Pja1em1(IMPC)Mbp HEM Early adult 0.00
abnormal eye morphology Pja1em1(IMPC)Mbp HOM Early adult 0.00
cataract Pja1em1(IMPC)Mbp HEM Early adult 2.61×10-06

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Pja1 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.

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

The table below shows human diseases predicted to be associated to Pja1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Cataract 11, Multiple Types
Microphthalmia, Cataract, Developmental cataract OMIM:610623
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma OMIM:604219
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Microphthalmia, Corneal opacity, Hepatomegaly ORPHA:2432
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Microphthalmia OMIM:251505
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Cataract 29
Cataract OMIM:115800
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Nanophthalmos 2
Microphthalmia OMIM:609549
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Cataract ORPHA:79281
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries OMIM:184700
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Microphthalmia, Isolated 2
Microphthalmia, Opacification of the corneal stroma OMIM:610093
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Microphthalmia, Anophthalmia, Iris coloboma OMIM:616428
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney, Elevated circulating growth hormone concentration, ... ORPHA:90301
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... OMIM:619924
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Galactosemia Iv
Cataract, Prolonged neonatal jaundice OMIM:618881
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Iris coloboma OMIM:614497
Cataract 42
Cataract, Developmental cataract OMIM:115900
Hepatic Adenomas, Familial
Polycystic ovaries OMIM:142330
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size, Gait disturbance ORPHA:1875
Microphthalmia, Isolated 4
Microphthalmia, Absent testis OMIM:613094
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Polycystic ovaries ORPHA:488191
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Foveal Hypoplasia 2
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon OMIM:609218
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Iris coloboma, Anophthalmia, Bilateral microphthalmos OMIM:611638
Galactosemia Ii
Cataract, Prolonged neonatal jaundice OMIM:230200
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante... OMIM:269400
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Cataract, Iris coloboma OMIM:120433
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Congenital Varicella Syndrome
Microphthalmia, Cataract ORPHA:291
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... ORPHA:206484
Gombo Syndrome
Microphthalmia OMIM:233270
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased proportion of memory T cells, Increased B cell count, Hepatosplenomegaly OMIM:618982
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ... OMIM:604229
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcornea, Microphthalmia, Cataract ORPHA:2528
Trichomegaly
Cataract OMIM:190330
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia, Sclerocornea OMIM:611038
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, Cataract OMIM:619813
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Xp22.3 Microdeletion Syndrome
Aplasia/Hypoplasia affecting the eye, Hypogonadotropic hypogonadism, Polycystic ovaries ORPHA:1643
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m... ORPHA:2334
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Conge... ORPHA:83461
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... OMIM:217300
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Isosexual pr... ORPHA:91348
Microphthalmia, Isolated 6
Microcornea, Microphthalmia OMIM:613517
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Cataract OMIM:278780
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly OMIM:610023
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:618204
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Corneal opacity, Microphthalmia, Posterior embryotoxon, Iris coloboma ORPHA:1473
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia, Bicornuate uterus, Cryptorchidism OMIM:615524
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Mmep Syndrome
Microphthalmia, Cryptorchidism ORPHA:3434
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Cataract, Elevated circulating alanine aminotransferase concentration, Microphthalm... OMIM:618805
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Ovarian Hyperstimulation Syndrome
Enlarged polycystic ovaries, Ovarian cyst, Increased circulating gonadotropin level, Hemorrhagic ... ORPHA:64739
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Nanophthalmos
Microphthalmia ORPHA:35612
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n... OMIM:212050
Biemond Syndrome Type 2
Hypogonadism, Microphthalmia, Hypogonadotropic hypogonadism, Hypospadias ORPHA:141333
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Jaundice, Cataract, Elevated circulating aspartate aminotransferase concentration OMIM:614876
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Au... OMIM:615559
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Nanophthalmos 4
Microphthalmia OMIM:615972
Rudiger Syndrome
Ovarian cyst, Micropenis, Bicornuate uterus OMIM:268650
Microphthalmia, Syndromic 13
Microcornea, Microphthalmia, Iris coloboma OMIM:300915
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Ocular anterior segment dysgenesis, Developmental cataract ORPHA:324416
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism ORPHA:397685
2Q24 Microdeletion Syndrome
Microphthalmia, Cataract, Abnormality iris morphology ORPHA:1617
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Microphthalmia, Posterior lenticonus, Iris coloboma ORPHA:231736
Galactose Mutarotase Deficiency
Hepatomegaly, Cataract, Decreased liver function, Cholestasis ORPHA:570422
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Lethargy OMIM:274270
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microcornea, Microphthalmia, Cataract OMIM:616171
Rabson-Mendenhall Syndrome
Enlarged ovaries, Precocious puberty, Long penis, Increased pineal volume, Clitoral hypertrophy ORPHA:769
Ring Chromosome Y Syndrome
Bifid scrotum, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral cryptorchidism, Cryptor... ORPHA:261529
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Microphthalmia, Isolated 5
Microphthalmia, Cataract OMIM:611040
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia, Shallow anterior chamber OMIM:267760
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Abnormal salivary gland morphology, Enlarged polycystic ovaries, Polycystic ova... ORPHA:2298
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Cataract, Hepatomegaly OMIM:613730
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice, Cataract ORPHA:79238
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei... ORPHA:90796
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Breast hypoplasia, Hypopla... ORPHA:785
Opitz Gbbb Syndrome
Bifid scrotum, Enlarged ovaries, Hypospadias, Cryptorchidism, Bicornuate uterus, Shawl scrotum ORPHA:2745
Peutz-Jeghers Syndrome
Enlarged polycystic ovaries, Cervix cancer, Pancreatic adenocarcinoma ORPHA:2869
Isolated Aniridia
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... OMIM:603909
Aniridia 2
Aniridia, Iris coloboma, Cataract, Lens subluxation OMIM:617141
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... ORPHA:2975
Coats Disease
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology ORPHA:190
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism OMIM:613546
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Hypogonadism, External genital hypoplasia, Cryptorchidism ORPHA:363741
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Ataxia OMIM:615771
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Congenital Rubella Syndrome
Hepatomegaly, Cataract, Corneal opacity, Splenomegaly, Jaundice, Aplasia/Hypoplasia of the iris, ... ORPHA:290
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Xk Aprosencephaly Syndrome
Microphthalmia, Abnormal external genitalia ORPHA:3469
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Aniridia, A... OMIM:194072
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Hepatosplenomegaly OMIM:273680
Cofs Syndrome
Microphthalmia, Cataract ORPHA:1466
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Corneal scarring, Buphthalmos, Microphthalmia, Iris coloboma OMIM:212550
Immunodeficiency 62
Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt... OMIM:618459
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Cataract OMIM:601794
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Ataxia, Hypogonadotropic hypogonadism, Dysmetria ORPHA:48431
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia OMIM:616873
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia, Cataract OMIM:251270
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Polycystic ovaries ORPHA:79084
Cataract 47
Microcornea, Cataract OMIM:612018
Leprechaunism
Hepatomegaly, Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis,... ORPHA:508
Aromatase Deficiency
Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Crypto... ORPHA:91
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Buphthalmos, Microcornea, Shallow anterior... OMIM:221900
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Abnormality of male external genitalia, Adrenal hyperplasia, Abnormal externa... ORPHA:95699
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Oculogastrointestinal Neurodevelopmental Syndrome
Vaginal fistula, Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Astigmatism, Cataract OMIM:619694
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Lipodystrophy, Partial, Acquired, Susceptibility To
Polycystic ovaries OMIM:608709
Warburg Micro Syndrome 1
Microcornea, Microphthalmia, Developmental cataract OMIM:600118
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Cataract, Optic nerve hypoplasia OMIM:615181
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Cataract, Sclerocornea, Microcornea, Microphthalmia, Iris coloboma ORPHA:139471
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia, Cryptorchidism OMIM:164180
Congenital Toxoplasmosis
Elevated hepatic transaminase, Microphthalmia, Jaundice, Hepatomegaly ORPHA:858
Cat-Eye Syndrome
Microphthalmia, Iris coloboma ORPHA:195
Lissencephaly 8
Microphthalmia, Cataract OMIM:617255
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Microphthalmia, Syndromic 11
Microphthalmia, Agenesis of pineal gland OMIM:614402
Ovarian Fibrothecoma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary, Abnormal endometrium morphology ORPHA:314478
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Abnormal spermatogenesis, Azoospermia, Ovarian cyst, Elevated circ... OMIM:228300
Microphthalmia, Syndromic 8
Microcornea, Microphthalmia OMIM:601349
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Nance-Horan Syndrome
Microcornea, Microphthalmia, Cataract ORPHA:627
Ataxia-Telangiectasia
Abnormal testis morphology, Ataxia, Gait disturbance, Polycystic ovaries ORPHA:100
Developmental And Epileptic Encephalopathy 1
Choreoathetosis, Microphthalmia, Micropenis OMIM:308350
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Left ventricular hypertrophy, Microphthalmia, Micropenis, Decreased tes... ORPHA:335
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Developmental cataract OMIM:613155
Fanconi Anemia, Complementation Group S
Microphthalmia, Ataxia, Ovarian carcinoma, Ovarian neoplasm OMIM:617883
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Developmental cataract, Buphthalmos, Micro... ORPHA:91495
Meckel Syndrome, Type 8
Ambiguous genitalia, Microphthalmia, Anophthalmia, Enlarged kidney OMIM:613885
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Cataract, Developmental cataract OMIM:610756
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Increased T cell count, Increased B cell count ORPHA:98813
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, Hypogonadotropic hypogonadism ORPHA:1135
Bartsocas-Papas Syndrome 2
Corneal opacity, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pterygium OMIM:619339
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cryptorchidism, Hypergonadotropic hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:3085
Osteoporosis-Pseudoglioma Syndrome
Loss of ambulation, Microphthalmia, Isosexual precocious puberty, Waddling gait ORPHA:2788
Pierpont Syndrome
Microcornea, Microphthalmia ORPHA:487825
Aniridia 3
Aniridia, Cataract OMIM:617142
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism, Microphthalmia OMIM:152950
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Microphthalmia, Syndromic 5
Anophthalmia, Cataract, Optic nerve hypoplasia, Microcornea, Microphthalmia OMIM:610125
Pierpont Syndrome
Microphthalmia, Micropenis, Cryptorchidism OMIM:602342
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Plin1-Related Familial Partial Lipodystrophy
Polycystic ovaries ORPHA:280356
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Ataxia, Enlarged polycystic ovaries, Adenoma se... ORPHA:201
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Cataract ORPHA:93267
Matthew-Wood Syndrome
Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormality of the uterus, Micr... ORPHA:2470
Microphthalmia, Isolated, With Coloboma 9
Sclerocornea, Microcornea, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma OMIM:615145
Satoyoshi Syndrome
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u... ORPHA:3130
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca, Microphthalmia ORPHA:1806
Mu-Heavy Chain Disease
Splenomegaly, Abnormal B cell count, Anemia ORPHA:100024
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Cataract, Corneal opacity OMIM:613153
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... OMIM:233420
Bangstad Syndrome
Abnormality of the parathyroid gland, Abnormal testis morphology, Ataxia, Polycystic ovaries ORPHA:1227
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Oculoauricular Syndrome
Cataract, Sclerocornea, Phthisis bulbi, Developmental cataract, Microcornea, Iris cyst, Macular h... OMIM:612109
Rodrigues Blindness
Microcornea, Microphthalmia, Sclerocornea OMIM:268320
Premature Ovarian Failure 5
Streak ovary, Hypoplasia of the ovary OMIM:611548
Vitreoretinochoroidopathy
Microcornea, Microphthalmia, Pulverulent cataract, Developmental cataract OMIM:193220
Temtamy Syndrome
Microphthalmia, Iris coloboma ORPHA:1777
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries ORPHA:2795
Proximal Myotonic Myopathy
Cataract ORPHA:606
Spondylo-Ocular Syndrome
Cataract, Microphthalmia, Aplasia/Hypoplasia of the lens, Iris hypopigmentation ORPHA:85194
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Hypoplasia of penis ORPHA:2547
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Ovarian Dysgenesis 10
Streak ovary, Elevated circulating follicle stimulating hormone level, Elevated circulating lutei... OMIM:619834
Preeclampsia
Polycystic ovaries ORPHA:275555
Distal Deletion 10P
Cryptorchidism, Hypoplasia of penis, Polycystic ovaries ORPHA:1580
Frontofacionasal Dysplasia
Cataract, Brushfield spots, Microcornea, Limbal dermoid, Microphthalmia, Iris coloboma ORPHA:1791
Idiopathic Uveal Effusion Syndrome
Microphthalmia, Abnormal anterior eye segment morphology ORPHA:209956
Congenital Disorder Of Glycosylation, Type Iq
Elevated hepatic transaminase, Microphthalmia, Cataract OMIM:612379
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Nance-Horan Syndrome
Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract OMIM:302350
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Microphthalmia, Vaginal atresia, Optic nerve hypoplasia OMIM:617914
Otodental Syndrome
Cataract, Lens coloboma, Microcornea, Microphthalmia, Iris coloboma ORPHA:2791
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microcornea, Microphthalmia, Cataract, Iris transillumination defect OMIM:617306
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Temtamy Syndrome
Microphthalmia, Ectopia lentis, Iris coloboma, Lens luxation OMIM:218340
Moebius Syndrome
Hypogonadotropic hypogonadism, Dysdiadochokinesis, Gait disturbance, Microphthalmia, Micropenis, ... OMIM:157900
Hydrolethalus
Cryptorchidism, Microphthalmia, Anophthalmia, Abnormal fallopian tube morphology ORPHA:2189
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Hepatomegaly, Unilateral microphthalmos OMIM:615085
Frontonasal Dysplasia 1
Microphthalmia, Cataract OMIM:136760
Seckel Syndrome 2
Microphthalmia, Hypospadias OMIM:606744
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma OMIM:617100
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia, Corneal opacity, Peters anomaly OMIM:120200
Warburg Micro Syndrome 4
Small scrotum, Cryptorchidism, Inability to walk, Microphthalmia, Micropenis, Decreased testicula... OMIM:615663
Joubert Syndrome 37
Hepatomegaly, Cryptorchidism, Microphthalmia, Micropenis, Decreased testicular size OMIM:619185
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Lens subluxation, Microphakia ORPHA:171844
Autoimmune Lymphoproliferative Syndrome
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... ORPHA:3261
Premature Ovarian Failure 9
Hypoplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circul... OMIM:615724
Trisomy 13
Anophthalmia, Displacement of the urethral meatus, Cryptorchidism, Aplasia/Hypoplasia of the iris... ORPHA:3378
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary ORPHA:247768
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Microphthalmia, Cardiomegaly OMIM:618652
Bresek Syndrome
Decreased testicular size, Microphthalmia, Optic nerve hypoplasia, Cryptorchidism ORPHA:85284
Pelvis-Shoulder Dysplasia
Microphthalmia, Iris coloboma, Opacification of the corneal stroma OMIM:169550
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Cataract, Sclerocornea, Microcornea, Ectopia pupillae, Microphthalmia OMIM:615877
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Hypospadias, Precocious puberty in females, Elevated circulating luteinizing hormo... ORPHA:90793
Oculopalatocerebral Syndrome
Microphthalmia, Leukocoria OMIM:257910
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia, Vaginal atresia OMIM:248450
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Elevated circulating lutein... ORPHA:90797
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Cataract, Abnormally large globe OMIM:615249
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Optic nerve hypoplasia, Abnormality iris morphology, Microphthalmia, Megalocornea ORPHA:370959
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... OMIM:601552
Warburg Micro Syndrome 3
Small scrotum, Inability to walk, Hypoplastic labia minora, Microphthalmia, Micropenis, Decreased... OMIM:614222
Meckel Syndrome, Type 5
Microphthalmia, Bile duct proliferation OMIM:611561
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Biliary tract abnormality ORPHA:3191
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Corneal opacity, Bilateral microphthalmos, Microphthalmia, Conjunctival hyperemia ORPHA:2399
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corneal neovascu... OMIM:278730
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Cataract OMIM:214150
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Anophthalmia, Hypospadias, Cryptorchidism, Microphthalmia ORPHA:77298
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Polycystic ovaries ORPHA:79085
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia, Cataract OMIM:614105
Stromme Syndrome
Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peters anomaly, Mi... OMIM:243605
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Hypergonadotropic hypogonadism, Polycystic ovaries OMIM:268020
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Adams-Oliver Syndrome 2
Microphthalmia, Developmental cataract OMIM:614219
Estrogen Resistance
Hypoplasia of the uterus, Breast aplasia, Polycystic ovaries OMIM:615363
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia, Small scrotum, Hypogonadism, Cryptorchidism ORPHA:228390
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Hepatomegaly OMIM:619053
Oculofaciocardiodental Syndrome
Cataract, Ectopia lentis, Microcornea, Microphthalmia, Iris coloboma ORPHA:2712
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia OMIM:300887
Trichothiodystrophy 3, Photosensitive
Microphthalmia, Cataract, Developmental cataract OMIM:616395
3Q29 Microduplication Syndrome
Cataract, Sclerocornea, Aniridia, Microphthalmia, Iris coloboma ORPHA:251038
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Inability to walk, Microphthalmia, Cryptorchidism OMIM:618494
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Splenomegaly, Long penis, O... ORPHA:744
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Joubert Syndrome 22
Microphthalmia OMIM:615665
Warburg Micro Syndrome 2
Microcornea, Microphthalmia, Cataract, Developmental cataract OMIM:614225
Rere-Related Neurodevelopmental Syndrome
Microphthalmia, Astigmatism, Iris coloboma, Peters anomaly ORPHA:494344
Congenital Factor Vii Deficiency
Ovarian cyst ORPHA:327
Donohue Syndrome
Precocious puberty, Ovarian cyst, Long penis, Clitoral hypertrophy OMIM:246200
Sandestig-Stefanova Syndrome
Microphthalmia, Developmental cataract OMIM:618804
Myoclonic-Astatic Epilepsy
Microphthalmia, Unsteady gait, Ataxia ORPHA:1942
Refsum Disease
Splenomegaly, Microphthalmia, Cataract ORPHA:773
Chromosome 17Q12 Duplication Syndrome
Microphthalmia, Peters anomaly OMIM:614526
Walker-Warburg Syndrome
Anophthalmia, Corneal opacity, Cataract, Microcornea, Microphthalmia, Iris coloboma ORPHA:899
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia, Cataract ORPHA:163649
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Cataract, Microcornea, Microphthalmia, Iris coloboma ORPHA:3301
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Isosexual precocious puberty, Premature thelarche, Precocious puberty, Ambiguous genitalia, femal... ORPHA:90795
Gracile Bone Dysplasia
Aniridia, Microphthalmia, Hypoplastic spleen, Asplenia OMIM:602361
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... ORPHA:331206
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Kapur-Toriello Syndrome
Hypoplastic labia majora, Microphthalmia, Hypoplasia of penis ORPHA:2328
Congenital Generalized Lipodystrophy
Hepatomegaly, Overgrowth of external genitalia, Precocious puberty in females, Polycystic ovaries... ORPHA:528
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia, Shallow anterior chamber OMIM:305390
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Cataract 39, Multiple Types
Lamellar cataract, Anterior polar cataract, Developmental cataract OMIM:615188
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Adams-Oliver Syndrome
Cataract, Portal hypertension, Congenital hepatic fibrosis, Cirrhosis, Microphthalmia ORPHA:974
Aniridia-Absent Patella Syndrome
Aniridia, Cataract ORPHA:1069
Ovarian Dysgenesis 3
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:614324
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Abnormal labia majora morphology, Polycystic ovaries ORPHA:435660
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia, Cataract OMIM:616538
Solitary Median Maxillary Central Incisor
Microphthalmia, Anterior hypopituitarism, Anophthalmia, Decreased response to growth hormone stim... OMIM:147250
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Conjunctival hyperemia OMIM:167730
Multiple Benign Circumferential Skin Creases On Limbs
Small scrotum, Hypospadias, Cryptorchidism, Abnormality of the scrotum, Microphthalmia ORPHA:2505
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Polycystic ovaries ORPHA:435651
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Baraitser-Winter Syndrome 1
Microphthalmia, Micropenis, Cryptorchidism OMIM:243310
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Gonadal dysgenesis, Polycystic ovaries ORPHA:1770
8Q21.11 Microdeletion Syndrome
Cataract, Corneal opacity, Sclerocornea, Microphthalmia, Iris hypopigmentation ORPHA:284160
Familial Exudative Vitreoretinopathy
Microphthalmia, Cataract ORPHA:891
Lipodystrophy, Familial Partial, Type 3
Polycystic ovaries OMIM:604367
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia, Ectopia pupillae, Astigmatism, Cataract OMIM:618727
Meckel Syndrome, Type 2
Microphthalmia, Bile duct proliferation OMIM:603194
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia OMIM:614833
Micro Syndrome
Hypoplasia of penis, Cryptorchidism, Hypoplastic labia minora, Clitoral hypoplasia, Microphthalmia ORPHA:2510
Curry-Jones Syndrome
Microphthalmia, Iris coloboma ORPHA:1553
Meckel Syndrome
Accessory spleen, Anophthalmia, Cataract, Pancreatic fibrosis, Sclerocornea, Asplenia, Congenital... ORPHA:564
Familial Partial Lipodystrophy, Dunnigan Type
Splenomegaly, Hepatomegaly, Polycystic ovaries ORPHA:2348
Short Syndrome
Ovarian cyst, Rieger anomaly OMIM:269880
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma OMIM:618914
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Astigmatism, Cataract OMIM:618571
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Buphthalmos, Persistent pupillary membrane, Peters anomaly, Microphthalmia OMIM:613150
Cowden Syndrome 6
Hydrocele testis, Ovarian cyst, Varicocele, Goiter OMIM:615109
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Microphthalmia, Micropenis... OMIM:241410
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Pigmented Nodular Adrenocortical Disease, Primary, 2
Ovarian cyst OMIM:610475
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Cryptorchidism, Bilateral microphthalmos, Ataxia ORPHA:369891
Cowden Syndrome 1
Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Varicocele, Goiter OMIM:158350
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Hypogonadism, Ataxia OMIM:610651
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Cowden Syndrome 5
Hydrocele testis, Ovarian cyst, Goiter OMIM:615108
Pierson Syndrome
Rieger anomaly, Hypoplasia of the ciliary body, Cataract, Microcoria, Uveal ectropion, Hypoplasia... OMIM:609049
Marden-Walker Syndrome
Microphthalmia, Micropenis, Hypospadias, Cryptorchidism OMIM:248700
Fanconi Anemia, Complementation Group I
Microphthalmia, Astigmatism, Optic nerve hypoplasia OMIM:609053
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Kapur-Toriello Syndrome
Hypoplastic labia majora, Microphthalmia, Micropenis, Cryptorchidism OMIM:244300
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia, Small scrotum, Cryptorchidism ORPHA:2728
Pparg-Related Familial Partial Lipodystrophy
Splenomegaly, Hepatomegaly, Polycystic ovaries ORPHA:79083
Meckel Syndrome, Type 4
Microphthalmia, Bile duct proliferation OMIM:611134
Basel-Vanagaite-Smirin-Yosef Syndrome
Microcornea, Microphthalmia, Cataract OMIM:616449
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia, Gait disturbance, Supernumerary nipple OMIM:620098
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Cryptorchidism ORPHA:404440
Trichothiodystrophy 4, Nonphotosensitive
Microcornea, Microphthalmia, Keratoconjunctivitis sicca OMIM:234050
Bardet-Biedl Syndrome 1
Decreased testicular size, Ataxia, Hypogonadism, Vaginal atresia, Gait imbalance, Left ventricula... OMIM:209900
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Ovarian cyst ORPHA:454840
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia, Unilateral cryptorchidism OMIM:206920
X-Linked Dominant Chondrodysplasia Punctata
Microcornea, Microphthalmia, Cataract ORPHA:35173
Oculodentodigital Dysplasia, Autosomal Recessive
Microcornea, Microphthalmia, Cataract, Persistent pupillary membrane OMIM:257850
Microphthalmia, Lenz Type
Microcornea, Microphthalmia, Cataract, Iris coloboma ORPHA:568
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Blepharophimosis, Ptosis, And Epicanthus Inversus
Hypoplasia of the uterus, Microphthalmia, Increased circulating gonadotropin level OMIM:110100
Frontorhiny
Microphthalmia, Cataract, Iris coloboma ORPHA:391474
Luscan-Lumish Syndrome
Polycystic ovaries OMIM:616831
Monosomy 18P
Microphthalmia ORPHA:1598
Autoimmune Polyendocrine Syndrome, Type Ii
Cataract, Band keratopathy, Asplenia, Hepatitis, Keratoconjunctivitis, Chronic hepatitis, Cirrhos... OMIM:269200
Mosaic Trisomy 9
Hypoplasia of penis, Cryptorchidism, Abnormality of the uterus, Abnormal fallopian tube morpholog... ORPHA:99776
Histiocytoid Cardiomyopathy
Hepatomegaly, Cardiomegaly, Polycystic ovaries, Lethargy, Microphthalmia, Congenital aphakia ORPHA:137675
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia, Limbal dermoid, Sclerocornea OMIM:613001
Ritscher-Schinzel Syndrome 3
Microphthalmia, Cryptorchidism OMIM:619135
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Anophthalmia, External genital hypoplasia, Cryptorchidism, Hypogonadism, Mic... ORPHA:2250
Trichothiodystrophy 1, Photosensitive
Microcornea, Microphthalmia, Keratoconjunctivitis sicca, Cataract OMIM:601675
Martsolf Syndrome 1
Microphthalmia, Cataract, Developmental cataract OMIM:212720
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Supernumerary nipple, Cryptorchidism OMIM:612530
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Pseudotrisomy 13 Syndrome
Microphthalmia, Micropenis, Bicornuate uterus, Cryptorchidism OMIM:264480
3P25.3 Microdeletion Syndrome
Microphthalmia, Ataxia ORPHA:435638
Oculo-Palato-Cerebral Syndrome
Microphthalmia, Cataract, Leukocoria ORPHA:2714
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Elevated circulating growth hormone concentration, Precocious pu... ORPHA:562
Proteus-Like Syndrome
Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries ORPHA:2969
Vacterl With Hydrocephalus
Cryptorchidism, Microphthalmia, Anophthalmia, Abnormal fallopian tube morphology ORPHA:3412
Fibrous Dysplasia Of Bone
Antalgic gait, Precocious puberty in females, Testicular neoplasm, Elevated circulating growth ho... ORPHA:249
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Hypospadias, Cryptorchidism, Penoscrotal transposition, Left ventricular hypertrop... OMIM:619148
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia, Cataract, Sclerocornea OMIM:614230
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Anterio... OMIM:206900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Corneal opacity, Optic nerve hypoplasia, Buphthalmos, Peters anomaly, Microphthalmia, M... OMIM:236670
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Cystic Echinococcosis
Hepatomegaly, Abnormality of the testis size, Ovarian cyst ORPHA:400
Joubert Syndrome 14
Microphthalmia, Ataxia OMIM:614424
3Q29 Microdeletion Syndrome
Microphthalmia, Hypospadias, Gait disturbance ORPHA:65286
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Ovarian cyst, Precocious puberty with Sertoli cell tumor, Uterine neoplasm OMIM:175200
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Nodular goiter, Premature thelarche, Polycystic ovaries ORPHA:371428
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microphthalmia, Cataract, Optic nerve hypoplasia, Peters anomaly OMIM:614643
Phace Association
Microphthalmia, Optic nerve hypoplasia, Developmental cataract OMIM:606519
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Ocular albinism ORPHA:1352
Meckel Syndrome 14
Ambiguous genitalia, Microphthalmia, Aplasia of the uterus OMIM:619879
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Microphthalmia, Micropenis, Clitoral h... OMIM:309801
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia, Ectopia pupillae, Corneal opacity, Lens subluxation ORPHA:85167
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Basel-Vanagaite-Smirin-Yosef Syndrome
Microcornea, Microphthalmia, Cholelithiasis, Developmental cataract ORPHA:464738
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Elevated hepatic transaminase, Cataract, Portal hypertension, Macronodular cirr... OMIM:620005
Phace Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Microphthalmia, Heterochromia irid... ORPHA:42775
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Papillorenal Syndrome
Microphthalmia, Cataract, Lens luxation OMIM:120330
Fryns Syndrome
Microphthalmia, Bicornuate uterus, Hypospadias, Cryptorchidism ORPHA:2059
Joubert Syndrome 2
Microphthalmia, Ataxia, Hypoplastic male external genitalia OMIM:608091
Steinfeld Syndrome
Microphthalmia, Iris coloboma, Absent gallbladder OMIM:184705
Skin Creases, Congenital Symmetric Circumferential, 1
Microcornea, Microphthalmia OMIM:156610
Mosaic Trisomy 1
Microphthalmia, Opacification of the corneal stroma, Hepatic agenesis ORPHA:1692
Lymphedema-Distichiasis Syndrome
Microphthalmia, Corneal ulceration, Conjunctivitis, Recurrent corneal erosions OMIM:153400
Focal Dermal Hypoplasia
Acute hepatic failure, Corneal opacity, Ectopia lentis, Hypoplasia of the iris, Microphthalmia, I... ORPHA:2092
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia, Cataract OMIM:302960
Hyperparathyroidism, Transient Neonatal
Ovarian cyst, Hyperparathyroidism, Enlarged kidney OMIM:618188
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Jacobsen Syndrome
Hypospadias, Cryptorchidism, Clitoral hypoplasia, Macular hypoplasia, Labial hypoplasia, Micropht... OMIM:147791
Fanconi Anemia, Complementation Group F
Microphthalmia, Microphallus, Decreased response to growth hormone stimulation test, Cryptorchidism OMIM:603467
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia, Cataract OMIM:253800
Duane-Radial Ray Syndrome
Microphthalmia, Cataract, Optic disc hypoplasia, Iris coloboma OMIM:607323
Pelvis-Shoulder Dysplasia
Ambiguous genitalia, Bilateral microphthalmos, Waddling gait ORPHA:2839
Rothmund-Thomson Syndrome, Type 2
Cataract, Microcornea, Microphthalmia, Annular pancreas, Zonular cataract OMIM:268400
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Microphthalmia, Cataract, Opacification of the corneal stroma OMIM:251300
Ohdo Syndrome, X-Linked
Small scrotum, Cryptorchidism, Shawl scrotum, Microphthalmia, Micropenis OMIM:300895
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Splenomegaly, Hepatomegaly, Polycystic ovaries ORPHA:79240
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia, Sclerocornea OMIM:300952
1Q21.1 Microdeletion Syndrome
Microphthalmia, Cataract, Iris coloboma ORPHA:250989
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Hepatomegaly, Cataract, Splenomegaly, Microcornea, Keratoconjuncti... ORPHA:90324
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Hypospadias, Unilateral microphthalmos OMIM:618874
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Infantile Systemic Hyalinosis
Polycystic ovaries ORPHA:2176
Fanconi Anemia, Complementation Group R
Microphthalmia OMIM:617244
Tetraamelia Syndrome 1
Hypoplasia of the fallopian tube, Absent external genitalia, Adrenal gland agenesis, Microphthalm... OMIM:273395
Bosma Arhinia Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Hypoplastic labia majora, Microphthal... OMIM:603457
Frontonasal Dysplasia 2
Bilateral cryptorchidism, Microphthalmia OMIM:613451
Cat Eye Syndrome
Microphthalmia, Biliary atresia, Iris coloboma OMIM:115470
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Splenomegaly, Hepatomegaly, Polycystic ovaries ORPHA:264580
Acro-Renal-Ocular Syndrome
Cataract, Optic disc hypoplasia, Microcornea, Microphthalmia, Iris coloboma ORPHA:959
Microphthalmia, Syndromic 9
Anophthalmia, Cryptorchidism, Bilateral microphthalmos, Hypoplasia of the uterus, Bicornuate uterus OMIM:601186
Frontofacionasal Dysplasia
Microcornea, Microphthalmia, Cataract, Iris coloboma OMIM:229400
Fanconi Anemia, Complementation Group E
Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchidism OMIM:600901
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Ovarian serous cystadenoma, Enlarged kidney ORPHA:276280
Trisomy 18
Microcornea, Microphthalmia, Cataract, Iris coloboma ORPHA:3380
Osteoporosis-Pseudoglioma Syndrome
Iris atrophy, Cataract, Phthisis bulbi, Absent anterior chamber of the eye, Microphthalmia OMIM:259770
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Septate vagina, Uterus didelphys, Microphthalmia, Micropenis OMIM:617925
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Precocious puberty, Cr... OMIM:146510
Incontinentia Pigmenti
Hypoplasia of the fovea, Microphthalmia, Keratitis, Cataract OMIM:308300
Carney Complex
Neoplasm of the pancreas, Ovarian dermoid cyst, Pituitary growth hormone cell adenoma, Sertoli ce... ORPHA:1359
Fanconi Anemia, Complementation Group A
Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchidism OMIM:227650
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of penis, Hypospadias, Cryptorchidism, Ambiguous genitalia, Microphthalmia, Thyroid hy... ORPHA:2166
Acquired Generalized Lipodystrophy
Hepatomegaly, Polycystic ovaries ORPHA:79086
Incontinentia Pigmenti
Keratitis, Microphthalmia, Cataract, Corneal opacity ORPHA:464
Holoprosencephaly 9
Anophthalmia, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Decreased response to growth... OMIM:610829
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Splenomegaly, Hepatomegaly, Polycystic ovaries ORPHA:280365
Bartsocas-Papas Syndrome 1
Absent external genitalia, Bilateral cryptorchidism, Hypoplastic labia majora, Bicornuate uterus,... OMIM:263650
Cousin Syndrome
Microphthalmia, Ambiguous genitalia, female, Ambiguous genitalia, male OMIM:260660
Basal Cell Nevus Syndrome 1
Microphthalmia, Ovarian fibroma, Ovarian carcinoma OMIM:109400
Cohen Syndrome
Microphthalmia, Cryptorchidism ORPHA:193
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Microphthalmia, Corneal opacity OMIM:601812
Fanconi Anemia, Complementation Group L
Microphthalmia, Micropenis, Aplasia of the uterus OMIM:614083
Atelis Syndrome 2
Microphthalmia, Developmental cataract OMIM:620185
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Developmental cataract OMIM:127000
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Hallermann-Streiff Syndrome
Microphthalmia, Cataract, Iris coloboma OMIM:234100
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus OMIM:614527
Cockayne Syndrome B
Hepatomegaly, Splenomegaly, Developmental cataract, Hypoplasia of the iris, Microcornea, Opacific... OMIM:133540
Cockayne Syndrome
Elevated hepatic transaminase, Hepatomegaly, Cataract, Band keratopathy, Splenomegaly, Developmen... ORPHA:191
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Iris coloboma ORPHA:1236
Monosomy 9Q22.3
Microphthalmia, Ovarian fibroma ORPHA:77301
Fraser Syndrome
Hypoplasia of penis, Anophthalmia, Small scrotum, Hypospadias, Cryptorchidism, Bicornuate uterus,... ORPHA:2052
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Anophthalmia, Hypospadias, Epispadias, Male pseudohermaphroditism, Abn... ORPHA:2556
Fanconi Anemia, Complementation Group C
Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchidism OMIM:227645
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Corneal opacity ORPHA:364577
Treacher-Collins Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Hypoplasia of the thymus, Rectovaginal fistul... ORPHA:861
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Labial pseudohypertrophy, Polycystic ovaries OMIM:151660
Oculodentodigital Dysplasia
Microcornea, Microphthalmia, Cataract OMIM:164200
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Ambiguous genitalia, Microphthalmia, Cryptorchidism OMIM:616300
Fanconi Anemia
Hypospadias, Abnormal preputium morphology, Cryptorchidism, Aplasia/Hypoplasia of the iris, Azoos... ORPHA:84
Curry-Jones Syndrome
Microphthalmia, Iris coloboma OMIM:601707
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Anophthalmia, Perineal fistula, Rectovaginal fistula, Microphthalmia ORPHA:2538
Hallermann-Streiff Syndrome
Microphthalmia, Abdominal situs inversus, Developmental cataract ORPHA:2108
2Q31.1 Microdeletion Syndrome
Microphthalmia, Cryptorchidism ORPHA:251014
Dubowitz Syndrome
Hypoplasia of the iris, Microphthalmia, Megalocornea, Iris coloboma OMIM:223370
Monosomy 13Q14
Microphthalmia, Cataract, Iris coloboma ORPHA:1587
Proboscis Lateralis
Anophthalmia, Corneal opacity, Optic nerve hypoplasia, Cataract, Microcornea, Microphthalmia, Iri... ORPHA:141099
Linear Nevus Sebaceus Syndrome
Microphthalmia, Iris coloboma ORPHA:2612
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Polycoria, Developmental cataract, Hypoplasia of the iris, Microcornea, Ectopia ... OMIM:175780
Fraser Syndrome 2
Ambiguous genitalia, Microphthalmia, Hypoplasia of the thymus OMIM:617666
Acrofrontofacionasal Dysostosis 1
Microphthalmia, Iris atrophy OMIM:201180
Fanconi Anemia, Complementation Group D2
Hypergonadotropic hypogonadism, Cryptorchidism, Annular pancreas, Microphthalmia, Micropenis OMIM:227646
Mycophenolate Mofetil Embryopathy
Microphthalmia, Iris coloboma ORPHA:268249
Holoprosencephaly
Hypoplasia of penis, Anophthalmia, Cryptorchidism, Microphthalmia, Anterior hypopituitarism, Panh... ORPHA:2162
Fryns Syndrome
Bifid scrotum, Ectopic pancreatic tissue, Hypospadias, Cryptorchidism, Bicornuate uterus, Shawl s... OMIM:229850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Buphthalmos, Hypoplasia of the retina, Opacification of the corneal stroma, Microphthal... OMIM:253280
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia, Cataract, Corneal opacity ORPHA:1052
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia, Iris coloboma, Absent gallbladder ORPHA:3186
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist... OMIM:201750
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pol... ORPHA:572333
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Splenomegaly, Labial hypertrophy, Polycystic ovaries, Clitoral hypertrophy OMIM:608594
Trichothiodystrophy
Bilateral microphthalmos, Developmental cataract, Microcornea, Keratoconjunctivitis sicca, Astigm... ORPHA:33364
Meckel Syndrome, Type 1
External genital hypoplasia, Cryptorchidism, Splenomegaly, Ambiguous genitalia, female, Ambiguous... OMIM:249000
Aicardi Syndrome
Hepatoblastoma, Microphthalmia, Cataract OMIM:304050
Neuroocular Syndrome
Hypoplasia of the fovea, Cataract, Brushfield spots, Lens coloboma, Blue irides, Microcornea, Pet... OMIM:619539
Norrie Disease
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal... ORPHA:649
Galloway-Mowat Syndrome 3
Microphthalmia OMIM:617729
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Hypospadias, Cryptorchidism, Clitoral hypoplasia, Microphthalmia, Micropenis OMIM:609945
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Microphthalmia, Iris coloboma, Optic nerve hypoplasia, Exocrine pancreatic insufficiency ORPHA:508498
Orofaciodigital Syndrome I
Pancreatic cysts, Ovarian cyst OMIM:311200
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Splenomegaly, Labial hypertrophy, Polycystic ovaries, Clitoral hypertrophy OMIM:269700
Charge Syndrome
Bifid scrotum, Anophthalmia, Hypogonadotropic hypogonadism, Cryptorchidism, Micropenis, Labial hy... ORPHA:138
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microphthalmia, Annular pancreas, Peters anomaly OMIM:616975
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia, Cataract ORPHA:2526
Roberts Syndrome
Microphthalmia, Long penis, Clitoral hypertrophy, Cryptorchidism ORPHA:3103
Mend Syndrome
Microphthalmia, Cataract ORPHA:401973
Oculocerebrorenal Syndrome Of Lowe
Cataract, Corneal opacity, Abnormal pupil morphology, Buphthalmos, Lentiglobus, Microphthalmia ORPHA:534
Monosomy 9P
Ambiguous genitalia, Microphthalmia, Hypospadias, Cryptorchidism ORPHA:261112
Pallister-Hall Syndrome
Thyroid hypoplasia, Hypopituitarism, Small scrotum, Hypospadias, Precocious puberty, Cryptorchidi... ORPHA:672
22Q11.2 Deletion Syndrome
Cataract, Splenomegaly, Microphthalmia, Posterior embryotoxon, Cholelithiasis, Corneal neovascula... ORPHA:567
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia, Cataract ORPHA:306542
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Aplasia of the thymus, Hydrocele testis, Hypoplastic nipples, Microphthalmia, Thyr... OMIM:620186
Myhre Syndrome
Microphthalmia, Ataxia, Cryptorchidism OMIM:139210
Microphthalmia, Syndromic 2
Anophthalmia, Hypospadias, Septate vagina, Cryptorchidism, Phthisis bulbi, Microphthalmia OMIM:300166
Aicardi Syndrome
Precocious puberty, Microphthalmia ORPHA:50
Chromosome 13Q14 Deletion Syndrome
Microphthalmia, Micropenis, Supernumerary nipple, Cryptorchidism OMIM:613884
Microphthalmia With Limb Anomalies
Microphthalmia, True anophthalmia, Cryptorchidism ORPHA:1106
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia, Small scrotum, Hypospadias, Cryptorchidism OMIM:616734
Adams-Oliver Syndrome 1
Microphthalmia, Imperforate hymen, Supernumerary nipple OMIM:100300
Yunis-Varon Syndrome
Hypospadias, Cardiomegaly, Cryptorchidism, Bilateral microphthalmos, Hypoplastic labia majora, Mi... ORPHA:3472
Hydrolethalus Syndrome 1
Hypospadias, Bifid uterus, Adrenal gland dysgenesis, Microphthalmia, Abnormal vagina morphology OMIM:236680
Fontaine Progeroid Syndrome
Small scrotum, Absent nipple, Cryptorchidism, Hypoplastic labia majora, Hypoplastic nipples, Left... OMIM:612289
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Enlarged kidney, Polycystic ovaries ORPHA:79259
Isolated Arrhinia
Microphthalmia ORPHA:1134
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypospadias, Optic nerve hypoplasia, Cryptorchidism, Bilateral microphthalmos, Microphallus ORPHA:468631
Fraser Syndrome 1
Anophthalmia, Hypospadias, Cryptorchidism, Bilateral microphthalmos, Bicornuate uterus, Micropeni... OMIM:219000
Holoprosencephaly 7
Microphthalmia, Bilateral microphthalmos, Iris coloboma OMIM:610828
Degcags Syndrome
Hepatomegaly, Hypospadias, Cryptorchidism, Hepatosplenomegaly, Chordee, Ambiguous genitalia, Micr... OMIM:619488
Lowe Oculocerebrorenal Syndrome
Microphthalmia, Dense posterior cortical cataract, Corneal scarring, Developmental cataract OMIM:309000
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Cryptorchidism, Rectovagi... ORPHA:857
Focal Dermal Hypoplasia
Anophthalmia, Supernumerary nipple, Cryptorchidism, Clitoral hypoplasia, Hypoplastic nipples, Lab... OMIM:305600
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia, Corneal opacity OMIM:608670
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia, Cataract, Sutural cataract, Nuclear pulverulent cataract OMIM:612474
Charge Syndrome
Hypoparathyroidism, Anophthalmia, Hypogonadotropic hypogonadism, Decreased response to growth hor... OMIM:214800
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos, Developmental cataract ORPHA:93325
Williams Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Ataxia, Cardiomegaly, Precocious puberty, Cry... ORPHA:904
Renpenning Syndrome 1
Microphthalmia, Hypospadias, Decreased testicular size, Phimosis OMIM:309500
Digeorge Syndrome
Parathyroid agenesis, Splenomegaly, Parathyroid hypoplasia, Hydrocele testis, Ovarian cyst, Hypop... OMIM:188400
Neu-Laxova Syndrome 1
Cryptorchidism, Microphthalmia, Bifid uterus OMIM:256520
Turner Syndrome Due To Structural X Chromosome Anomalies
Increased circulating gonadotropin level, Abnormality of the ovary, Gonadoblastoma ORPHA:99413
Turner Syndrome
Increased circulating gonadotropin level, Abnormality of the ovary, Gonadoblastoma ORPHA:881
Mosaic Monosomy X
Increased circulating gonadotropin level, Abnormality of the ovary, Gonadoblastoma ORPHA:99228
Monosomy X
Increased circulating gonadotropin level, Abnormality of the ovary, Gonadoblastoma ORPHA:99226
Mowat-Wilson Syndrome
Cataract, Microcornea, Ectopia pupillae, Microphthalmia, Iris coloboma OMIM:235730
Treacher Collins Syndrome 1
Cryptorchidism, Bilateral microphthalmos, Abnormal parotid gland morphology OMIM:154500
Microphthalmia, Syndromic 6
Anophthalmia, Small scrotum, Female hypogonadism, Cryptorchidism, Microphthalmia, Anterior hypopi... OMIM:607932
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Cataract, Corneal opacity, Biliary tract abnormality, Opacification of the corn... OMIM:268300
Witteveen-Kolk Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Unilateral cryptorchidism, Ph... OMIM:613406
Holoprosencephaly 1
Microphthalmia, Micropenis OMIM:236100
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Broad-based gait, Hypospadias, Webbed penis, Septate vagina, Cryptorchidism, Inabi... ORPHA:261537
Mowat-Wilson Syndrome
Bifid scrotum, Broad-based gait, Hypospadias, Ataxia, Webbed penis, Septate vagina, Cryptorchidis... ORPHA:2152
Branchiooculofacial Syndrome
Microphthalmia, Anophthalmia, Iris coloboma, Cataract OMIM:113620
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Iris atrophy, Cataract, Asplenia, Abnormal pupil morphology, Microcornea, Ectopia pupillae, Astig... ORPHA:261552
Holoprosencephaly 2
Microphthalmia, Iris coloboma OMIM:157170
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Bilateral microphthalmos, Optic nerve hypoplasia ORPHA:508488
Microphthalmia, Syndromic 1
Anophthalmia, Microcornea, Ciliary body coloboma, Microphthalmia, Iris coloboma OMIM:309800
Alström Syndrome
Hepatomegaly, Precocious puberty in females, Decreased response to growth hormone stimulation tes... ORPHA:64
Craniofacial Microsomia 1
Limbal dermoid, 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 Pja1

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 Pja1.

No publications found that use IMPC mice or data for Pja1.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Pja1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Pja1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pja1em1(IMPC)Mbp Exon Deletion Mice, Tissue

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