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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
cataract Pja1em1(IMPC)Mbp HEM Early adult 8.91×10-07
cataract Pja1em1(IMPC)Mbp HOM Early adult 8.65×10-05
abnormal liver morphology Pja1em1(IMPC)Mbp HEM Early adult 0.00
abnormal skin morphology Pja1em1(IMPC)Mbp HEM Early adult 0.00
abnormal ovary morphology Pja1em1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Pja1em1(IMPC)Mbp HEM Early adult 0.00
microphthalmia Pja1em1(IMPC)Mbp HOM Early adult 0.00
microphthalmia Pja1em1(IMPC)Mbp HEM Early adult 0.00
abnormal eye morphology Pja1em1(IMPC)Mbp HOM Early adult 0.00
decreased locomotor activity Pja1em1(IMPC)Mbp HOM Early adult 1.46×10-06
enlarged ovary Pja1em1(IMPC)Mbp HOM Early adult 0.00
increased B cell number Pja1PJA1 HEM Early adult 1.80×10-05

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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 Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 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
Cataract, Microphthalmia OMIM:156850
Microphthalmia/Coloboma 3
Cataract, Microphthalmia, Iris coloboma OMIM:610092
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract, Ataxia ORPHA:1397
Cataract 11, Multiple Types
Cataract, Microphthalmia, Developmental cataract OMIM:610623
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Cataract 9, Multiple Types
Microphthalmia, Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma OMIM:604219
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Hepatomegaly, Corneal opacity, Microphthalmia ORPHA:2432
Microphthalmia/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
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Cryptorchidism OMIM:274205
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract, Hepatomegaly ORPHA:79281
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract, Spastic gait, Limb ataxia, Gait ataxia OMIM:617133
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Microphthalmia, Isolated 2
Opacification of the corneal stroma, Microphthalmia OMIM:610093
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count OMIM:613495
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Gait disturbance, Decreased testicular size, Hypogonadism, Cataract ORPHA:1875
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism ORPHA:393
Spastic Paraparesis-Deafness Syndrome
Cataract, Gait disturbance, Ataxia, Hypogonadism ORPHA:2815
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries OMIM:184700
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia, Microcoria, Iris coloboma OMIM:616428
Galactosemia Iv
Cataract, Prolonged neonatal jaundice, Hepatomegaly OMIM:618881
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Microphthalmia/Coloboma 7
Microphthalmia, Iris coloboma OMIM:614497
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Enlarged kidney, Enlarged polycystic ovaries, Elevated circulating growth hor... ORPHA:90301
Cataract 42
Cataract, Developmental cataract OMIM:115900
Dysequilibrium Syndrome
Cataract, Ataxia, Gait disturbance ORPHA:1766
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcornea, Microphthalmia, Hypogonadism ORPHA:2528
Xp22.3 Microdeletion Syndrome
Aplasia/Hypoplasia affecting the eye, Opacification of the corneal stroma, Polycystic ovaries, Hy... ORPHA:1643
Microphthalmia, Isolated 4
Microphthalmia, Absent testis OMIM:613094
Foveal Hypoplasia 2
Microphthalmia, Astigmatism, Axenfeld anomaly, Posterior embryotoxon, Hypoplasia of the fovea OMIM:609218
Spastic Paraparesis And Deafness
Cataract, Hypogonadism OMIM:312910
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Xeroderma Pigmentosum, Complementation Group G
Cataract, Microphthalmia, Ataxia OMIM:278780
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia, Iris coloboma OMIM:611638
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microphthalmia, Microcornea, Corneal opacity, Sclerocornea, C... OMIM:269400
Microphthalmia/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
Cataract, Microphthalmia, Iris coloboma OMIM:120433
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Galactosemia Ii
Cataract, Prolonged neonatal jaundice OMIM:230200
Congenital Varicella Syndrome
Cataract, Microphthalmia ORPHA:291
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, External genital hypoplasia, Hypogonadism, Cataract, Cryptorchidism ORPHA:363741
Gombo Syndrome
Microphthalmia OMIM:233270
Hepatic Adenomas, Familial
Polycystic ovaries OMIM:142330
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Hepatosplenomegaly, Increased proportion of memory T cells OMIM:618982
Anterior Segment Dysgenesis 5
Microphthalmia, Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel... OMIM:604229
Trichomegaly
Cataract OMIM:190330
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Microphthalmia, Syndromic 16
Microphthalmia, Sclerocornea, Anophthalmia OMIM:611038
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Microphthalmia, Cryptorchidism, Hypogonadism OMIM:601794
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Abnormality of the ovary, Ovarian g... ORPHA:206484
Autosomal Dominant Keratitis
Corneal neovascularization, Bilateral microphthalmos, Aniridia, Limbal stem cell deficiency, Micr... ORPHA:2334
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... OMIM:312863
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Microphthalmia, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat c... OMIM:217300
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,... OMIM:617319
Microphthalmia, Isolated 6
Microcornea, Microphthalmia OMIM:613517
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Isosexual precocious puberty, Pituitary go... ORPHA:91348
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular anterior segment dysgenesis, Peters anomaly, Microphthalmia, Iris coloboma OMIM:610023
Anterior Segment Dysgenesis 2
Microphthalmia, Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of e... OMIM:610256
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, Abnormal B cell count, L... OMIM:615615
Mmep Syndrome
Microphthalmia, Cryptorchidism ORPHA:3434
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia, Corneal opacity, Posterior embryotoxon, Cataract, Iris coloboma ORPHA:1473
Microphthalmia, Syndromic 12
Microphthalmia, Cryptorchidism, Bicornuate uterus, Anophthalmia OMIM:615524
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Fryns Microphthalmia Syndrome
Unicornuate uterus, Microphthalmia, Anophthalmia OMIM:600776
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concent... OMIM:618805
Aniridia-Intellectual Disability Syndrome
Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia ORPHA:1068
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Nanophthalmos
Microphthalmia ORPHA:35612
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Peroxisome Biogenesis Disorder 8A (Zellweger)
Cataract, Elevated circulating aspartate aminotransferase concentration, Jaundice, Hepatomegaly OMIM:614876
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Increased B c... OMIM:615559
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Microphthalmia, Hepatomegaly, Cryptorchidism OMIM:613730
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Increased circulating gonadotropin level, Ovarian cyst, Enlarged polycy... ORPHA:64739
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Microcornea, Ataxia, Cataract, Hypogonadotropic hypogonadism, Dysmetria ORPHA:48431
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypospadias, Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Cryptorchidism ORPHA:1381
Nanophthalmos 4
Microphthalmia OMIM:615972
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Polycystic ovaries, Hypergonadotropic hypogonadism ORPHA:2229
Microphthalmia, Syndromic 13
Microcornea, Microphthalmia, Iris coloboma OMIM:300915
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ocular anterior segment dysgenesis, Microphthalmia, Developmental cataract ORPHA:324416
Biemond Syndrome Type 2
Microphthalmia, Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism ORPHA:141333
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells, Abnormal proport... OMIM:212050
Immunodeficiency 52
Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B cell count, Lymph... OMIM:617514
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microcornea, Microphthalmia, Iris coloboma ORPHA:231736
2Q24 Microdeletion Syndrome
Abnormality iris morphology, Microphthalmia, Cataract ORPHA:1617
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Microphthalmia, Syndromic 8
Microcornea, Microphthalmia, Cryptorchidism OMIM:601349
Rudiger Syndrome
Ovarian cyst, Bicornuate uterus, Micropenis OMIM:268650
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Microcornea, Cataract, Cryptorchidism, Micr... OMIM:610125
Galactose Mutarotase Deficiency
Cataract, Hepatomegaly, Cholestasis, Decreased liver function ORPHA:570422
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Microcornea, Microphthalmia OMIM:616171
Idiopathic Uveal Effusion Syndrome
Microphthalmia, Abnormal anterior eye segment morphology ORPHA:209956
Cofs Syndrome
Cataract, Microphthalmia, Hypogonadism ORPHA:1466
Estrogen Resistance Syndrome
Breast hypoplasia, Increased circulating gonadotropin level, Hypoplasia of the uterus, Enlarged p... ORPHA:785
Hypogonadism-Cataract Syndrome
Cataract, Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogonadism OMIM:240950
Microphthalmia, Isolated 5
Cataract, Microphthalmia OMIM:611040
Rabson-Mendenhall Syndrome
Clitoral hypertrophy, Long penis, Precocious puberty, Increased pineal volume, Enlarged ovaries ORPHA:769
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Exfoliation Syndrome
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... OMIM:177650
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Abnormal salivary gland morphology, Enlarged polycystic ovaries, Polycystic ova... ORPHA:2298
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia, Shallow anterior chamber OMIM:267760
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism ORPHA:397685
Opitz Gbbb Syndrome
Hypospadias, Bifid scrotum, Bicornuate uterus, Shawl scrotum, Enlarged ovaries, Cryptorchidism ORPHA:2745
Galactose Epimerase Deficiency
Cataract, Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas... ORPHA:90796
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Iron deficiency anemia, Neutropenia in presence of anti-neutropil an... OMIM:603909
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Lethargy OMIM:274270
Peutz-Jeghers Syndrome
Cervix cancer, Enlarged polycystic ovaries, Pancreatic adenocarcinoma ORPHA:2869
Warburg Micro Syndrome 1
Microphthalmia, External genital hypoplasia, Microcornea, Developmental cataract, Cryptorchidism OMIM:600118
Isolated Aniridia
Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly, Aniridia ORPHA:250923
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia, Microcornea, Sclerocornea, Cataract, Cryptorchidism, Iris coloboma ORPHA:139471
Congenital Primary Aphakia
Microphthalmia, Developmental glaucoma, Aniridia, Aplasia/Hypoplasia affecting the anterior segme... ORPHA:83461
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male hypogona... ORPHA:261529
Aniridia 2
Cataract, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Decreased testicular size, Cataract, Polycystic ovaries, Cryptorc... ORPHA:3085
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Aniridia, Hypospadias, Abnormal vagina morphology, Cryptorchidism, Abnormality of the uterus, Str... OMIM:194072
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Abnormal B cell count, Decreased proportion of class-switched memory B cells OMIM:613493
Congenital Fibrinogen Deficiency
Microphthalmia, Hemorrhagic ovarian cyst, Decreased testicular size, Developmental cataract, Righ... ORPHA:335
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Small scrotum, Developmental cataract, Cataract, Micropenis OMIM:610756
Tetragametic Chimerism
Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov... ORPHA:199310
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Developmental cataract, Inability to walk OMIM:613155
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Congenital Rubella Syndrome
Microphthalmia, Jaundice, Hepatomegaly, Corneal opacity, Splenomegaly, Cataract, Aplasia/Hypoplas... ORPHA:290
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Ataxia OMIM:615771
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Hepatosplenomegaly OMIM:273680
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia, Corneal scarring, Cataract, Buphthalmos, Iris coloboma OMIM:212550
Cataract 10, Multiple Types
Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract OMIM:600881
Xk Aprosencephaly Syndrome
Microphthalmia, Abnormal external genitalia ORPHA:3469
Immunodeficiency 48
Absence of CD8-positive T cells, Impaired lymphocyte transformation with phytohemagglutinin, Sple... OMIM:269840
Hereditary Leiomyomatosis And Renal Cell Cancer
Cataract, Uterine leiomyoma, Uterine leiomyosarcoma, Vaginal neoplasm ORPHA:523
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cataract, Microphthalmia OMIM:251270
Cataract 47
Cataract, Microcornea OMIM:612018
Pierpont Syndrome
Microcornea, Microphthalmia, Cryptorchidism ORPHA:487825
Wagr Syndrome
Displacement of the urethral meatus, Cataract, Ambiguous genitalia, Aplasia/Hypoplasia of the iri... ORPHA:893
Warburg Micro Syndrome 3
Microphthalmia, Small scrotum, Inability to walk, Microcornea, Hypoplastic labia minora, Decrease... OMIM:614222
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Isosexual precocious puberty, Waddling gait, Corneal opacity, Loss of ambulation ORPHA:2788
Aromatase Deficiency
Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hypogonadism, Female... ORPHA:91
Leprechaunism
Enlarged kidney, Clitoral hypertrophy, Hepatomegaly, Long penis, Enlarged ovaries, Overgrowth of ... ORPHA:508
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microphthalmia, Microcornea, Corneal opacity, Persistent pupillary membrane, Phthisis bulbi, Shal... OMIM:221900
Norrie Disease
Microphthalmia, Buphthalmos, Corneal opacity, Hypoplasia of the iris, Shallow anterior chamber, L... OMIM:310600
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal female external genitalia morphology, Hypospadias, Abnormal ovarian morphology, Abnormal... ORPHA:95699
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Cataract, Ambiguous genitalia, Microphthalmia ORPHA:93267
Aromatase Deficiency
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Cataract 1, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Microcornea, Pulverulent cataract OMIM:116200
Cowden Syndrome
Adenoma sebaceum, Abnormal penis morphology, Conjunctival hamartoma, Enlarged polycystic ovaries,... ORPHA:201
Familial Partial Lipodystrophy, Köbberling Type
Polycystic ovaries, Hepatomegaly ORPHA:79084
Pierpont Syndrome
Microcornea, Microphthalmia, Micropenis, Cryptorchidism OMIM:602342
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Oculocerebrocutaneous Syndrome
Microphthalmia, Cryptorchidism, Anophthalmia OMIM:164180
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Warburg Micro Syndrome 4
Microphthalmia, Inability to walk, Microcornea, Decreased testicular size, Developmental cataract... OMIM:615663
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cataract, Microphthalmia, Astigmatism OMIM:619694
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Optic nerve hypoplasia, Microphthalmia OMIM:615181
Cochleosaccular Degeneration-Cataract Syndrome
Cataract, Ataxia ORPHA:3233
Aniridia-Absent Patella Syndrome
Cataract, Cryptorchidism, Aniridia ORPHA:1069
Cat-Eye Syndrome
Microphthalmia, Iris coloboma ORPHA:195
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Congenital Toxoplasmosis
Microphthalmia, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly ORPHA:858
Lipodystrophy, Partial, Acquired, Susceptibility To
Polycystic ovaries OMIM:608709
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Hypospadias, Hypoplasia of penis, Anophthalmia, Sclerocornea, Cryptorchidism, Iri... ORPHA:77298
Oculogastrointestinal Neurodevelopmental Syndrome
Vaginal fistula, Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Neurooculocardiogenitourinary Syndrome
Cardiomegaly, Microphthalmia, Peters anomaly, Bilateral cryptorchidism OMIM:618652
Nance-Horan Syndrome
Cataract, Microcornea, Microphthalmia ORPHA:627
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Polycystic ovaries, Subcapsular cataract, Hypergonadotropic hypogonadism OMIM:268020
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Azoospermia, Testicular microlithiasis, Abnormal spermatogenesis, Abnormality of the Leydig cells... OMIM:228300
Warburg Micro Syndrome 2
Microphthalmia, Small scrotum, Microcornea, Developmental cataract, Cataract, Cryptorchidism, Mic... OMIM:614225
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Lissencephaly 8
Cataract, Microphthalmia OMIM:617255
Persistent Hyperplastic Primary Vitreous
Microphthalmia, Microcornea, Corneal opacity, Persistent pupillary membrane, Phthisis bulbi, Shal... ORPHA:91495
Ectopia Lentis Et Pupillae
Iris transillumination defect, Persistent pupillary membrane, Ectopia lentis, Ectopia pupillae, C... OMIM:225200
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... ORPHA:708
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Ataxia-Telangiectasia
Polycystic ovaries, Ataxia, Abnormal testis morphology, Gait disturbance ORPHA:100
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Increased B cell count, Increased T cell count ORPHA:98813
Developmental And Epileptic Encephalopathy 1
Microphthalmia, Choreoathetosis, Micropenis OMIM:308350
Ovarian Fibrothecoma
Gonadal calcification, Ovarian fibroma, Abnormal endometrium morphology, Abnormality of the ovary ORPHA:314478
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, Hypogonadotropic hypogonadism ORPHA:1135
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Microphthalmia, Corneal opacity, Left ventricular hypertrophy OMIM:613153
Aniridia 3
Cataract, Aniridia OMIM:617142
Fanconi Anemia, Complementation Group S
Ovarian carcinoma, Microphthalmia, Ovarian neoplasm, Ataxia OMIM:617883
Meckel Syndrome, Type 8
Ambiguous genitalia, Microphthalmia, Enlarged kidney, Anophthalmia OMIM:613885
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Trisomy 13
Microphthalmia, Anophthalmia, Displacement of the urethral meatus, Cataract, Aplasia/Hypoplasia o... ORPHA:3378
Cataract 3, Multiple Types
Cerulean cataract, Developmental cataract, Nuclear pulverulent cataract, Sutural cataract OMIM:601547
Microphthalmia, Syndromic 11
Microphthalmia, Agenesis of pineal gland OMIM:614402
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia, Astigmatism, Myopic astigmatism, Microcornea, Corneal opacity, Cataract OMIM:152950
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Abnormal T cell count, Transient neutropenia, ... OMIM:607676
Bresek Syndrome
Microphthalmia, Optic nerve hypoplasia, Decreased testicular size, Cryptorchidism, Iris coloboma ORPHA:85284
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Axillary pterygium, Microphthalmia, Corneal opacity, Antecubital pterygium OMIM:619339
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Hypospadias, Anophthalmia, Microcornea, Precocious puberty, Sclerocornea, Ectopia... OMIM:615877
Xeroderma Pigmentosum, Complementation Group D
Corneal neovascularization, Microphthalmia, Keratitis, Ataxia, Conjunctivitis, Cataract, Choreoat... OMIM:278730
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... OMIM:277000
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Cataract, Microphthalmia, Decreased pineal volume OMIM:301108
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia OMIM:615113
Microphthalmia/Coloboma 9
Ocular anterior segment dysgenesis, Microphthalmia, Microcornea, Sclerocornea, Iris coloboma OMIM:615145
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Microcornea, Septo-optic dysplasia, Vaginal atresia, Cataract, Cryptorchidism, Ir... ORPHA:3301
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia, Corneal dystrophy, Microcornea, Sclerocornea, Cataract, Keratoconjunctivitis sicca ORPHA:1806
Mu-Heavy Chain Disease
Anemia, Splenomegaly, Abnormal B cell count ORPHA:100024
Oculoauricular Syndrome
Microphakia, Ocular anterior segment dysgenesis, Microphthalmia, Iris cyst, Microcornea, Posterio... OMIM:612109
Plin1-Related Familial Partial Lipodystrophy
Polycystic ovaries ORPHA:280356
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Cataract 5, Multiple Types
Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract OMIM:116800
Bangstad Syndrome
Abnormality of the parathyroid gland, Polycystic ovaries, Ataxia, Abnormal testis morphology ORPHA:1227
Matthew-Wood Syndrome
Microphthalmia, Annular pancreas, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Abnormality o... ORPHA:2470
Temtamy Syndrome
Microphthalmia, Iris coloboma ORPHA:1777
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Vitreoretinochoroidopathy
Microcornea, Microphthalmia, Developmental cataract, Pulverulent cataract OMIM:193220
Rodrigues Blindness
Microcornea, Microphthalmia, Sclerocornea OMIM:268320
Satoyoshi Syndrome
Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the uterus, Abnormality of the ... ORPHA:3130
Spondylo-Ocular Syndrome
Cataract, Iris hypopigmentation, Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Frontofacionasal Dysplasia
Microphthalmia, Microcornea, Brushfield spots, Cataract, Limbal dermoid, Iris coloboma ORPHA:1791
Distal Deletion 10P
Polycystic ovaries, Cryptorchidism, Hypoplasia of penis ORPHA:1580
Proximal Myotonic Myopathy
Cataract ORPHA:606
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Cerebrooculofacioskeletal Syndrome 1
Cataract, Microphthalmia, Cryptorchidism OMIM:214150
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Hypoplasia of penis ORPHA:2547
Trichothiodystrophy 3, Photosensitive
Cataract, Microphthalmia, Developmental cataract, Bilateral cryptorchidism OMIM:616395
Congenital Disorder Of Glycosylation, Type Iq
Cataract, Microphthalmia, Elevated circulating hepatic transaminase concentration OMIM:612379
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Proteus-Like Syndrome
Thymus hyperplasia, Heterochromia iridis, Splenomegaly, Cataract, Limbal dermoid, Polycystic ovar... ORPHA:2969
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Iris transillumination defect, Microcornea, Microphthalmia OMIM:617306
Temtamy Syndrome
Lens luxation, Ectopia lentis, Microphthalmia, Iris coloboma OMIM:218340
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Abnormality of the ovary ORPHA:2795
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Nance-Horan Syndrome
Microcornea, Posterior Y-sutural cataract, Developmental cataract, Microphthalmia OMIM:302350
Otodental Syndrome
Microphthalmia, Microcornea, Lens coloboma, Cataract, Iris coloboma ORPHA:2791
Joubert Syndrome 37
Microphthalmia, Hepatomegaly, Decreased testicular size, Cryptorchidism, Micropenis OMIM:619185
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Corneopalpebral synechiae, Vaginal atresia, Anophthalmia OMIM:248450
Moebius Syndrome
Microphthalmia, Dysdiadochokinesis, Gait disturbance, Decreased testicular size, Micropenis, Hypo... OMIM:157900
Rere-Related Neurodevelopmental Syndrome
Microphthalmia, Astigmatism, Hypospadias, Cryptorchidism, Peters anomaly, Iris coloboma ORPHA:494344
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Hypospadias, Microcornea, Abnormal scrotum morphology, Small scrotum, Cryptorchidism ORPHA:2505
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia, Hypoplasia of penis, Microcornea, Corneal opacity, Cataract, Crypto... ORPHA:899
Micro Syndrome
Microphthalmia, Hypoplasia of penis, Microcornea, Hypoplastic labia minora, Clitoral hypoplasia, ... ORPHA:2510
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G... OMIM:233420
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia, Hypoplasia of the uterus, Vaginal atresia OMIM:617914
Frontonasal Dysplasia 1
Cataract, Microphthalmia OMIM:136760
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Astigmatism, Difficulty walking, Inability to walk, Gait disturbance, Cataract OMIM:618571
Hydrolethalus
Microphthalmia, Cryptorchidism, Abnormal fallopian tube morphology, Anophthalmia ORPHA:2189
Xeroderma Pigmentosum, Complementation Group B
Cataract, Microphthalmia, Ataxia, Hypogonadism OMIM:610651
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos, Hepatomegaly, Splenomegaly OMIM:615085
Microphthalmia/Coloboma 12
Optic nerve aplasia, Microphthalmia, Peters anomaly, Corneal opacity OMIM:120200
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Pancytopenia, Lymphocytosis, Abnormal T cell count, Thrombocyt... OMIM:308240
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, External genital hypoplasia, Hypoplasia of penis, Anophthalmia, Hypogonadism, Cat... ORPHA:2250
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Lens subluxation, Cataract ORPHA:171844
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Abnormal T cell count, Abnormal B cell count OMIM:613496
Kapur-Toriello Syndrome
Microphthalmia, Iris coloboma, Cataract, Cryptorchidism, Micropenis, Hypoplastic labia majora OMIM:244300
8Q21.11 Microdeletion Syndrome
Microphthalmia, Hypoplasia of penis, Corneal opacity, Iris hypopigmentation, Sclerocornea, Catara... ORPHA:284160
Aniridia 1
Corneal neovascularization, Macular agenesis, Aniridia, Corneal erosion, Optic nerve hypoplasia, ... OMIM:106210
Kapur-Toriello Syndrome
Hypoplasia of penis, Microphthalmia, Hypoplastic labia majora, Iris coloboma ORPHA:2328
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Microphthalmia, Iris coloboma OMIM:169550
Short Syndrome
Astigmatism, Megalocornea, Rieger anomaly, Ovarian cyst, Cataract OMIM:269880
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Lymphocytosis, Neutropenia in presence of anti-neutropil antibodies,... ORPHA:3261
Refsum Disease
Cataract, Microphthalmia, Ataxia, Splenomegaly ORPHA:773
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormality of the ovary, Abnormal vagina morphology ORPHA:247768
Oculopalatocerebral Syndrome
Microphthalmia, Leukocoria OMIM:257910
Congenital Muscular Dystrophy With Cerebellar Involvement
Microphthalmia, Abnormality iris morphology, Optic nerve hypoplasia, Megalocornea, Cataract ORPHA:370959
Traboulsi Syndrome
Microphthalmia, Spherophakia, Phakodonesis, Iris atrophy, Ectopia lentis, Shallow anterior chambe... OMIM:601552
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo... ORPHA:90793
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia, Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Ovotestis, Chordee, ... OMIM:309801
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Microphthalmia, Abnormally large globe OMIM:615249
Proteus Syndrome
Enlarged kidney, Buphthalmos, Ovarian neoplasm, Long penis, Testicular neoplasm, Enlarged polycys... ORPHA:744
Cowden Syndrome 6
Varicocele, Ovarian cyst, Cataract, Goiter, Hydrocele testis OMIM:615109
Baraitser-Winter Syndrome 1
Microphthalmia, Cryptorchidism, Micropenis, Iris coloboma OMIM:243310
Cowden Syndrome 5
Cataract, Goiter, Ovarian cyst, Hydrocele testis OMIM:615108
Meckel Syndrome, Type 5
Microphthalmia, Bile duct proliferation OMIM:611561
Subaortic Stenosis-Short Stature Syndrome
Biliary tract abnormality, Microphthalmia ORPHA:3191
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Bilateral microphthalmos, Corneal opacity, Conjunctival hyperemia, Cataract ORPHA:2399
Partial Androgen Insensitivity Syndrome
Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Bifid scrotu... ORPHA:90797
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, male, Developmental glaucoma, Bifid scrotum, Hypospadias, Azoospermia, Uroge... ORPHA:1772
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Abnormal T cell count, Abnormal ... OMIM:620430
Hyperferritinemia With Or Without Cataract
Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract OMIM:600886
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Small scrotum, Microphthalmia, Cryptorchidism, Hypogonadism ORPHA:228390
Adams-Oliver Syndrome 2
Microphthalmia, Developmental cataract OMIM:614219
Stromme Syndrome
Microphthalmia, Accessory spleen, Optic nerve hypoplasia, Microcornea, Sclerocornea, Cataract, Pe... OMIM:243605
Seckel Syndrome 2
Microphthalmia, Hypospadias OMIM:606744
Bardet-Biedl Syndrome 1
Astigmatism, Gait imbalance, Abnormality of the ovary, Left ventricular hypertrophy, Decreased te... OMIM:209900
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia, Cryptorchidism, Inability to walk OMIM:618494
Cowden Syndrome 1
Varicocele, Ovarian cyst, Cataract, Goiter, Ovarian carcinoma, Hydrocele testis OMIM:158350
Xp22.13P22.2 Duplication Syndrome
Polycystic ovaries, Macroorchidism ORPHA:284180
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Hepatomegaly OMIM:619053
Familial Adenomatous Polyposis 4
Uterine leiomyoma, Ovarian cyst OMIM:617100
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Cataract, Microphthalmia OMIM:614105
Microphthalmia, Lenz Type
Microphthalmia, Hypospadias, Microcornea, Cataract, Cryptorchidism, Iris coloboma ORPHA:568
Microphthalmia, Syndromic 3
Microphthalmia, Hypospadias, Anophthalmia, Optic nerve hypoplasia, Anterior pituitary hypoplasia,... OMIM:206900
3Q29 Microduplication Syndrome
Microphthalmia, Aniridia, Sclerocornea, Cataract, Iris coloboma ORPHA:251038
Akt2-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hepatomegaly ORPHA:79085
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia OMIM:300887
Oculofaciocardiodental Syndrome
Microphthalmia, Microcornea, Ectopia lentis, Cataract, Iris coloboma ORPHA:2712
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Clitoral hypertrophy, Hypospadias, Microcornea, Cataract OMIM:616449
Chromosome 17Q12 Duplication Syndrome
Microphthalmia, Peters anomaly OMIM:614526
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos, Ocular anterior segment dysgenesis, Cryptorchidism, Ataxia ORPHA:369891
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Joubert Syndrome 22
Microphthalmia OMIM:615665
Sandestig-Stefanova Syndrome
Microphthalmia, Developmental cataract OMIM:618804
Estrogen Resistance
Polycystic ovaries, Hypoplasia of the uterus, Breast aplasia OMIM:615363
Encephalocraniocutaneous Lipomatosis
Microphthalmia, Hypoplasia of the iris, Sclerocornea, Limbal dermoid, Cryptorchidism OMIM:613001
Myoclonic-Astatic Epilepsy
Unsteady gait, Microphthalmia, Ataxia ORPHA:1942
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Cataract, Microphthalmia ORPHA:163649
Gracile Bone Dysplasia
Microphthalmia, Hypoplastic spleen, Aniridia, Asplenia OMIM:602361
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Donohue Syndrome
Precocious puberty, Clitoral hypertrophy, Ovarian cyst, Long penis OMIM:246200
Histiocytoid Cardiomyopathy
Microphthalmia, Hepatomegaly, Corneal opacity, Megalocornea, Congenital aphakia, Cardiomegaly, Po... ORPHA:137675
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia, Shallow anterior chamber OMIM:305390
Congenital Factor Vii Deficiency
Ovarian cyst ORPHA:327
Cataract 39, Multiple Types
Lamellar cataract, Developmental cataract, Anterior polar cataract OMIM:615188
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Premature pubarche, Isosexual precocious puberty, Long penis, Premature the... ORPHA:90795
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi... ORPHA:331206
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Martsolf Syndrome 1
Microphthalmia, Developmental cataract, Cataract, Cryptorchidism, Micropenis, Hypogonadotropic hy... OMIM:212720
Adams-Oliver Syndrome
Cirrhosis, Microphthalmia, Portal hypertension, Congenital hepatic fibrosis, Cataract ORPHA:974
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia, Sclerocornea, Cataract, Cryptorchidism, Micropenis OMIM:614230
Congenital Generalized Lipodystrophy
Clitoral hypertrophy, Hepatomegaly, Precocious puberty in females, Overgrowth of external genital... ORPHA:528
Mayer-Rokitansky-Küster-Hauser Syndrome
Endometriosis, Aplasia of the uterus, Ectopic ovary, Hypoplasia of the vagina, Aplasia of the ovary ORPHA:3109
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Microphthalmia OMIM:167730
Cataract 20, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract, Sutural cataract OMIM:116100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cataract, Buphthalmos, Microphthalmia OMIM:616538
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
3Q29 Microdeletion Syndrome
Cataract, Microphthalmia, Hypospadias, Gait disturbance ORPHA:65286
Lipe-Related Familial Partial Lipodystrophy
Abnormal labia majora morphology, Polycystic ovaries, Hepatomegaly ORPHA:435660
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Cidec-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hepatomegaly ORPHA:435651
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microcornea, Microphthalmia, Hypoplasia of the uterus, Increased circulating gonadotropin level OMIM:110100
Familial Exudative Vitreoretinopathy
Cataract, Microphthalmia ORPHA:891
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Microphthalmia, Astigmatism, Ectopia pupillae OMIM:618727
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Microphthalmia, Astigmatism, Decreased response to growth hormone stimula... OMIM:609053
Solitary Median Maxillary Central Incisor
Microphthalmia, Decreased response to growth hormone stimulation test, Anterior hypopituitarism, ... OMIM:147250
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Meckel Syndrome, Type 2
Microphthalmia, Bile duct proliferation OMIM:603194
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Microphthalmia, Optic nerve hypoplasia, Hypoplastic male external genitalia, Corneal opacity, Meg... OMIM:236670
Vacterl With Hydrocephalus
Microphthalmia, Abnormal fallopian tube morphology, Anophthalmia, Microcornea, Cryptorchidism ORPHA:3412
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia, Decreased response to growth hormone stimulation test, Congenital hypoparathyroid... OMIM:241410
Frontorhiny
Cataract, Microphthalmia, Hypopituitarism, Iris coloboma ORPHA:391474
Curry-Jones Syndrome
Microphthalmia, Iris coloboma ORPHA:1553
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Gonadal dysgenesis, Polycystic ovaries ORPHA:1770
Cataract 31, Multiple Types
Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract OMIM:605387
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma OMIM:618914
Lipodystrophy, Familial Partial, Type 3
Polycystic ovaries OMIM:604367
Mosaic Trisomy 9
Microphthalmia, Hypoplastic female external genitalia, Abnormal fallopian tube morphology, Hypopl... ORPHA:99776
Meckel Syndrome
Microphthalmia, Accessory spleen, Anophthalmia, Microcornea, Asplenia, Sclerocornea, Congenital h... ORPHA:564
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Pterygium, Premature thelarche, Nodular goiter, Polycystic ovaries, Iris coloboma ORPHA:371428
Trichothiodystrophy 1, Photosensitive
Microphthalmia, Microcornea, Hypogonadism, Cataract, Keratoconjunctivitis sicca OMIM:601675
Ovarian Dysgenesis 3
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:614324
Preeclampsia
Polycystic ovaries ORPHA:275555
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Difficulty walking, Hypospadias, Cholelithiasis, Inability to walk, Microcornea, ... ORPHA:464738
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Microphthalmia, Persistent pupillary membrane, Cataract, Buphthalmos, Peters anomaly OMIM:613150
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Familial Partial Lipodystrophy, Dunnigan Type
Polycystic ovaries, Hepatomegaly, Splenomegaly ORPHA:2348
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Microphthalmia, Cryptorchidism ORPHA:2728
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia, Hypospadias, Cataract, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism,... OMIM:603457
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Cryptorchidism ORPHA:404440
Marden-Walker Syndrome
Microphthalmia, Cryptorchidism, Micropenis, Hypospadias OMIM:248700
Microphthalmia With Limb Anomalies
Microphthalmia, Unilateral cryptorchidism, Anophthalmia OMIM:206920
Phace Association
Optic nerve hypoplasia, Microphthalmia, Lingual thyroid, Developmental cataract OMIM:606519
Garg-Mishra Progeroid Syndrome
Microvesicular hepatic steatosis, Microphthalmia OMIM:620601
Pigmented Nodular Adrenocortical Disease, Primary, 2
Ovarian cyst OMIM:610475
Pierson Syndrome
Posterior lenticonus, Microphthalmia, Hypoplasia of the ciliary body, Microcoria, Hypoplasia of t... OMIM:609049
Meckel Syndrome, Type 4
Microphthalmia, Bile duct proliferation OMIM:611134
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia, Supernumerary nipple, Gait disturbance OMIM:620098
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos, Microcornea, Waddling gait, Ambiguous genitalia, Iris coloboma ORPHA:2839
Trichothiodystrophy 4, Nonphotosensitive
Microcornea, Microphthalmia, Keratoconjunctivitis sicca OMIM:234050
X-Linked Dominant Chondrodysplasia Punctata
Cataract, Microcornea, Microphthalmia ORPHA:35173
Pparg-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hepatomegaly, Splenomegaly ORPHA:79083
Oculodentodigital Dysplasia, Autosomal Recessive
Cataract, Microcornea, Microphthalmia, Persistent pupillary membrane OMIM:257850
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Hypospadias, Unilateral microphthalmos, Iris coloboma OMIM:618874
Jacobsen Syndrome
Microphthalmia, Annular pancreas, Hypospadias, Labial hypoplasia, Microcornea, Clitoral hypoplasi... OMIM:147791
Ritscher-Schinzel Syndrome 3
Microphthalmia, Cryptorchidism OMIM:619135
Cataract 15, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:611391
Fryns Syndrome
Microphthalmia, Hypospadias, Corneal opacity, Bicornuate uterus, Cryptorchidism ORPHA:2059
Monosomy 18P
Microphthalmia ORPHA:1598
1Q21.1 Microdeletion Syndrome
Cataract, Microphthalmia, Cryptorchidism, Iris coloboma ORPHA:250989
Tetraamelia Syndrome 1
Microphthalmia, Absent external genitalia, Hypoplasia of the fallopian tube, Vaginal atresia, Cat... OMIM:273395
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Cryptorchidism, Supernumerary nipple OMIM:612530
Luscan-Lumish Syndrome
Polycystic ovaries OMIM:616831
Skin Creases, Congenital Symmetric Circumferential, 1
Microcornea, Microphthalmia, Hypoplastic nipples OMIM:156610
Phace Syndrome
Microphthalmia, Optic nerve hypoplasia, Heterochromia iridis, Sclerocornea, Lens coloboma, Catara... ORPHA:42775
Autoinflammatory Disease, Systemic, With Vasculitis
Anemia, Increased B cell count, Leukocytosis, Increased T cell count, Hepatosplenomegaly, Splenom... OMIM:620376
Autoimmune Polyendocrine Syndrome, Type Ii
Cirrhosis, Band keratopathy, Keratoconjunctivitis, Asplenia, Chronic hepatitis, Exocrine pancreat... OMIM:269200
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Microphthalmia, Corneal opacity, Ectopia pupillae, Lens subluxation, Increased hepatic echogenicity OMIM:608940
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Ovarian cyst, Pancreatic adenocarcinoma ORPHA:454840
Trisomy 18
Microphthalmia, Microcornea, Cataract, Cryptorchidism, Abnormal morphology of female internal gen... ORPHA:3380
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Basal Cell Nevus Syndrome 1
Microphthalmia, Ovarian fibroma, Cataract, Ovarian carcinoma, Iris coloboma OMIM:109400
Linear Skin Defects With Multiple Congenital Anomalies 3
Thyroid C cell hyperplasia, Microphthalmia, Sclerocornea OMIM:300952
Oculo-Palato-Cerebral Syndrome
Cataract, Microphthalmia, Leukocoria ORPHA:2714
Mccune-Albright Syndrome
Abnormal testis morphology, Precocious puberty, Ovarian cyst, Elevated circulating growth hormone... ORPHA:562
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Chromosome 13Q33-Q34 Deletion Syndrome
Penoscrotal transposition, Microphthalmia, Hypospadias, Bifid scrotum, Left ventricular hypertrop... OMIM:619148
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Rothmund-Thomson Syndrome, Type 2
Microphthalmia, Annular pancreas, Microcornea, Zonular cataract, Hypogonadism, Cataract, Cryptorc... OMIM:268400
Bartsocas-Papas Syndrome 1
Popliteal pterygium, Axillary pterygium, Microphthalmia, Ambiguous genitalia, Corneal ulceration,... OMIM:263650
3P25.3 Microdeletion Syndrome
Microphthalmia, Ataxia ORPHA:435638
Pseudotrisomy 13 Syndrome
Microphthalmia, Cryptorchidism, Micropenis, Bicornuate uterus OMIM:264480
Cystic Echinococcosis
Hepatomegaly, Ovarian cyst, Abnormality of the testis size ORPHA:400
Fibrous Dysplasia Of Bone
Difficulty walking, Precocious puberty in females, Testicular neoplasm, Hyperpituitarism, Ovarian... ORPHA:249
Incontinentia Pigmenti
Breast hypoplasia, Microphthalmia, Breast aplasia, Hypoplastic nipples, Keratitis, Hypoplasia of ... OMIM:308300
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Incontinentia Pigmenti
Microphthalmia, Corneal opacity, Gait disturbance, Keratitis, Cataract, Supernumerary nipple ORPHA:464
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Ovarian cyst, Uterine neoplasm, Precocious puberty with Sertoli cell tumor OMIM:175200
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Hypoparathyroidism, Developmental cataract OMIM:127000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Optic nerve hypoplasia, Microphthalmia, Peters anomaly OMIM:614643
Joubert Syndrome 14
Microphthalmia, Ataxia OMIM:614424
Hallermann-Streiff Syndrome
Microphthalmia, Choreoathetosis, Cataract, Cryptorchidism, Iris coloboma OMIM:234100
Galloway-Mowat Syndrome 1
Microphthalmia, Hypoplasia of the iris, Ataxia, Cataract, Opacification of the corneal stroma OMIM:251300
Microphthalmia With Linear Skin Defects Syndrome
Epispadias, Microphthalmia, Clitoral hypertrophy, Hypospadias, Abnormal fallopian tube morphology... ORPHA:2556
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Ocular albinism ORPHA:1352
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia, Lens subluxation, Corneal opacity, Ectopia pupillae ORPHA:85167
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia, Elevated circulating hepatic transaminase concentration, Accessory spleen, Portal... OMIM:620005
Monosomy 9Q22.3
Cataract, Ovarian fibroma, Microphthalmia ORPHA:77301
Cockayne Syndrome
Microphthalmia, Hepatomegaly, Difficulty walking, Inability to walk, Corneal ulceration, Band ker... ORPHA:191
Meckel Syndrome 14
Ambiguous genitalia, Microphthalmia, Aplasia of the uterus OMIM:619879
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Bilateral microphthalmos OMIM:607597
Treacher-Collins Syndrome
Microphthalmia, Small scrotum, Rectovaginal fistula, Hypoplasia of penis, Thyroid hypoplasia, Hyp... ORPHA:861
Cockayne Syndrome Type 3
Microphthalmia, Hepatomegaly, Difficulty walking, Corneal ulceration, Microcornea, Unsteady gait,... ORPHA:90324
Cockayne Syndrome B
Microphthalmia, Hepatomegaly, Microcornea, Hypoplasia of the iris, Developmental cataract, Spleno... OMIM:133540
Joubert Syndrome 2
Hypoplastic male external genitalia, Microphthalmia, Ataxia OMIM:608091
Papillorenal Syndrome
Cataract, Lens luxation, Microphthalmia OMIM:120330
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Fanconi Anemia, Complementation Group F
Microphthalmia, Cryptorchidism, Decreased response to growth hormone stimulation test, Microphallus OMIM:603467
Cohen Syndrome
Microphthalmia, Cryptorchidism, Iris coloboma ORPHA:193
Cousin Syndrome
Ambiguous genitalia, male, Microcornea, Microphthalmia, Ambiguous genitalia, female OMIM:260660
Mosaic Trisomy 1
Opacification of the corneal stroma, Microphthalmia, Micropenis, Penile hypospadias ORPHA:1692
Ohdo Syndrome, X-Linked
Microphthalmia, Small scrotum, Shawl scrotum, Cryptorchidism, Micropenis OMIM:300895
Focal Dermal Hypoplasia
Microphthalmia, Corneal opacity, Hypoplasia of the iris, Ectopia lentis, Acute hepatic failure, I... ORPHA:2092
Lymphedema-Distichiasis Syndrome
Recurrent corneal erosions, Microphthalmia, Corneal ulceration, Conjunctivitis OMIM:153400
Atelis Syndrome 2
Microphthalmia, Developmental cataract, Dysmetria OMIM:620185
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia, Corneal opacity, Vaginal neoplasm, Cataract, Ambiguous genitalia ORPHA:1052
Chondrodysplasia Punctata 2, X-Linked Dominant
Cataract, Microphthalmia OMIM:302960
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Ovarian cyst, Hyperparathyroidism OMIM:618188
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Cataract, Microphthalmia OMIM:253800
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Fanconi Anemia
Microphthalmia, Astigmatism, Hypospadias, Abnormal preputium morphology, Azoospermia, Bicornuate ... ORPHA:84
Dubowitz Syndrome
Microphthalmia, Hypospadias, Megalocornea, Hypoplasia of the iris, Cryptorchidism, Iris coloboma OMIM:223370
Frontonasal Dysplasia 2
Microphthalmia, Bilateral cryptorchidism OMIM:613451
Steinfeld Syndrome
Absent gallbladder, Microphthalmia, Iris coloboma OMIM:184705
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Supernumerary nipple, Iris coloboma ORPHA:1236
Duane-Radial Ray Syndrome
Cataract, Microphthalmia, Optic disc hypoplasia, Iris coloboma OMIM:607323
Norrie Disease
Microphthalmia, Aplasia/Hypoplasia of the lens, Corneal opacity, Hypoplasia of the iris, Cryptorc... ORPHA:649
Fanconi Anemia, Complementation Group E
Microphthalmia, Cryptorchidism, Hypergonadotropic hypogonadism OMIM:600901
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Polycystic ovaries, Hepatomegaly, Splenomegaly ORPHA:79240
Trichothiodystrophy
Gonadal dysgenesis, Bilateral microphthalmos, Astigmatism, Microcornea, Gait ataxia, Developmenta... ORPHA:33364
Fanconi Anemia, Complementation Group R
Microphthalmia OMIM:617244
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Oculodentodigital Dysplasia
Cataract, Microcornea, Microphthalmia, Ataxia OMIM:164200
Infantile Systemic Hyalinosis
Polycystic ovaries ORPHA:2176
2Q31.1 Microdeletion Syndrome
Microphthalmia, Cryptorchidism, Iris coloboma ORPHA:251014
Cat Eye Syndrome
Microphthalmia, Biliary atresia, Iris coloboma OMIM:115470
Frontofacionasal Dysplasia
Cataract, Microcornea, Microphthalmia, Iris coloboma OMIM:229400
Microphthalmia, Syndromic 9
Bilateral microphthalmos, Anophthalmia, Bicornuate uterus, Cryptorchidism, Hypoplasia of the uterus OMIM:601186
Fanconi Anemia, Complementation Group A
Microphthalmia, Cryptorchidism, Hypergonadotropic hypogonadism OMIM:227650
Acro-Renal-Ocular Syndrome
Microphthalmia, Optic disc hypoplasia, Microcornea, Cataract, Iris coloboma ORPHA:959
Linear Nevus Sebaceus Syndrome
Microphthalmia, Adenoma sebaceum, Iris coloboma ORPHA:2612
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Polycystic ovaries, Hepatomegaly, Splenomegaly ORPHA:264580
Carney Complex
Ductal carcinoma in situ, Neoplasm of the pancreas, Testicular neoplasm, Ovarian dermoid cyst, Pi... ORPHA:1359
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia, Hypospadias, Hypoplasia of penis, Thyroid hypoplasia, Ambiguous genitalia, Crypto... ORPHA:2166
Proboscis Lateralis
Microphthalmia, External genital hypoplasia, Anophthalmia, Optic nerve hypoplasia, Microcornea, C... ORPHA:141099
Hemihyperplasia-Multiple Lipomatosis Syndrome
Enlarged kidney, Ovarian serous cystadenoma, Hydrocele testis ORPHA:276280
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Iris atrophy, Absent anterior chamber of the eye, Cataract, Phthisis bulbi OMIM:259770
Hallermann-Streiff Syndrome
Microphthalmia, Cryptorchidism, Developmental cataract ORPHA:2108
Roberts Syndrome
Microphthalmia, Clitoral hypertrophy, Long penis, Cataract, Cryptorchidism ORPHA:3103
Mend Syndrome
Cataract, Microphthalmia, Cryptorchidism ORPHA:401973
Pallister-Hall Syndrome
Microphthalmia, Decreased response to growth hormone stimulation test, Panhypopituitarism, Decrea... OMIM:146510
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia, Uterus didelphys, Absent gallbladder, Septate vagina, Micropenis OMIM:617925
Acquired Generalized Lipodystrophy
Polycystic ovaries, Hepatomegaly ORPHA:79086
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Microphthalmia, Corneal opacity OMIM:601812
Fryns Syndrome
Microphthalmia, Hypospadias, Bifid scrotum, Bicornuate uterus, Shawl scrotum, Ectopic pancreatic ... OMIM:229850
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Polycystic ovaries, Hepatomegaly, Splenomegaly ORPHA:280365
Microphthalmia, Syndromic 2
Microphthalmia, Hypospadias, Anophthalmia, Microcornea, Developmental cataract, Phthisis bulbi, S... OMIM:300166
Holoprosencephaly
Microphthalmia, Anterior hypopituitarism, Anophthalmia, Hypoplasia of penis, Panhypopituitarism, ... ORPHA:2162
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Fanconi Anemia, Complementation Group C
Microphthalmia, Cryptorchidism, Hypergonadotropic hypogonadism OMIM:227645
Fanconi Anemia, Complementation Group L
Microphthalmia, Aplasia of the uterus, Micropenis OMIM:614083
Chromosome 17Q12 Deletion Syndrome
Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, Ovarian cyst, Cryptorchidism OMIM:614527
Bardet-Biedl Syndrome
Hydrometrocolpos, Astigmatism, Aplasia/Hypoplasia of the vagina, Hypoplasia of penis, Hypoplasia ... ORPHA:110
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Ambiguous genitalia, Microphthalmia, Cryptorchidism OMIM:616300
Chromosome 13Q14 Deletion Syndrome
Microphthalmia, Micropenis, Cryptorchidism, Supernumerary nipple, Iris coloboma OMIM:613884
Autosomal Dominant Kenny-Caffey Syndrome
Decreased testicular size, Bilateral microphthalmos, Developmental cataract, Congenital hypoparat... ORPHA:93325
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Hepatomegaly, Rectovaginal fistula, Anophthalmia, Perineal fistula ORPHA:2538
Myhre Syndrome
Cataract, Microphthalmia, Cryptorchidism, Ataxia OMIM:139210
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Corneal opacity ORPHA:364577
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microphthalmia, Annular pancreas, Hypospadias, Cryptorchidism, Peters anomaly OMIM:616975
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia, Hypospadias, Microcornea, Small scrotum, Cryptorchidism OMIM:616734
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Popliteal pterygium, Microphthalmia, Hypospadias, Bifid scrotum, Clitoral hypoplasia, Antecubital... OMIM:609945
Fanconi Anemia, Complementation Group D2
Microphthalmia, Annular pancreas, Hypergonadotropic hypogonadism, Cryptorchidism, Micropenis OMIM:227646
Meckel Syndrome, Type 1
Ambiguous genitalia, male, Microphthalmia, External genital hypoplasia, Bile duct proliferation, ... OMIM:249000
Curry-Jones Syndrome
Microphthalmia, Iris coloboma OMIM:601707
Lipodystrophy, Familial Partial, Type 2
Labial pseudohypertrophy, Hepatomegaly, Polycystic ovaries OMIM:151660
Acrofrontofacionasal Dysostosis 1
Microphthalmia, Iris atrophy OMIM:201180
Monosomy 13Q14
Cataract, Microphthalmia, Iris coloboma ORPHA:1587
Oculocerebrorenal Syndrome Of Lowe
Microphthalmia, Azoospermia, Corneal opacity, Cataract, Buphthalmos, Cryptorchidism, Abnormal pup... ORPHA:534
22Q11.2 Deletion Syndrome
Corneal neovascularization, Microphthalmia, Hypoparathyroidism, Hypospadias, Cholelithiasis, Hypo... ORPHA:567
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal neovascularization, Astigmatism, Polycoria, Microphthalmia, Microcornea, Corneal opacity,... OMIM:175780
Yunis-Varon Syndrome
Microphthalmia, Bilateral microphthalmos, Clitoral hypertrophy, Hypospadias, Cardiomegaly, Sclero... ORPHA:3472
Townes-Brocks Syndrome
Microphthalmia, Hypospadias, Rectovaginal fistula, Abnormal vagina morphology, Hypoplasia of peni... ORPHA:857
Mycophenolate Mofetil Embryopathy
Microphthalmia, Iris coloboma ORPHA:268249
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Microphthalmia, Iris coloboma ORPHA:3186
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Vesicovaginal fistula, Labial hypopl... OMIM:201750
Fraser Syndrome 2
Ambiguous genitalia, Microphthalmia, Hypoplasia of the thymus OMIM:617666
Aicardi Syndrome
Cataract, Microphthalmia, Precocious puberty OMIM:304050
Fraser Syndrome
Microphthalmia, Hypospadias, Abnormal vagina morphology, Hypoplasia of penis, Anophthalmia, Bicor... ORPHA:2052
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Microphthalmia, Buphthalmos, Megalocornea, Hypoplasia of the retina, Cataract, Opacification of t... OMIM:253280
Charge Syndrome
Microphthalmia, Anterior hypopituitarism, Anophthalmia, Labial hypoplasia, Bifid scrotum, Abnorma... ORPHA:138
Neuroocular Syndrome
Microphthalmia, Microcornea, Stellate iris, Hypoplasia of the fovea, Lens coloboma, Brushfield sp... OMIM:619539
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Lacrimal gland aplasia, Lacrimal gland hypoplasia, Hypergonadotropic hypogonadism, Elevated circu... ORPHA:572333
Lipodystrophy, Congenital Generalized, Type 1
Clitoral hypertrophy, Hepatomegaly, Splenomegaly, Polycystic ovaries, Labial hypertrophy OMIM:608594
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Microphthalmia, Hypoplastic nipples, Thyroid hypoplasia, Absent nipple, Hydrocele testis, Right v... OMIM:620186
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Microphthalmia, Hypospadias, Iris coloboma ORPHA:508498
Orofaciodigital Syndrome I
Pancreatic cysts, Ovarian cyst OMIM:311200
Galloway-Mowat Syndrome 3
Microphthalmia OMIM:617729
Renpenning Syndrome 1
Microphthalmia, Hypospadias, Phimosis, Decreased testicular size, Cataract OMIM:309500
Lowe Oculocerebrorenal Syndrome
Dense posterior cortical cataract, Microphthalmia, Corneal scarring, Developmental cataract, Cryp... OMIM:309000
Monosomy 9P
Ambiguous genitalia, Microphthalmia, Cryptorchidism, Hypospadias ORPHA:261112
Williams Syndrome
Cardiomegaly, Cholelithiasis, Hypoplasia of penis, Gait imbalance, Corneal opacity, Megalocornea,... ORPHA:904
Ataxia-Telangiectasia
Hypoplasia of the thymus, T lymphocytopenia, Acute lymphoblastic leukemia, Decreased proportion o... OMIM:208900
Fanconi Anemia, Complementation Group N
Microphthalmia OMIM:610832
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Cataract, Microphthalmia, Anophthalmia ORPHA:2526
Lipodystrophy, Congenital Generalized, Type 2
Clitoral hypertrophy, Hepatomegaly, Splenomegaly, Polycystic ovaries, Labial hypertrophy OMIM:269700
Fraser Syndrome 1
Bilateral microphthalmos, Clitoral hypertrophy, Hypospadias, Anophthalmia, Corneal opacity, Bicor... OMIM:219000
Holoprosencephaly 9
Microphthalmia, Decreased response to growth hormone stimulation test, Anterior pituitary agenesi... OMIM:610829
Focal Dermal Hypoplasia
Microphthalmia, Aniridia, Anophthalmia, Labial hypoplasia, Hypoplastic nipples, Clitoral hypoplas... OMIM:305600
Pallister-Hall Syndrome
Hydrometrocolpos, Microphthalmia, Hypospadias, Aplasia/Hypoplasia of the vagina, Small scrotum, P... ORPHA:672
Charge Syndrome
Microphthalmia, Decreased response to growth hormone stimulation test, Hypoparathyroidism, Extern... OMIM:214800
Holoprosencephaly 7
Bilateral microphthalmos, Microphthalmia, Panhypopituitarism, Iris coloboma OMIM:610828
Neu-Laxova Syndrome 1
Microphthalmia, Pterygium, Bifid uterus, Cataract, Cryptorchidism OMIM:256520
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Mowat-Wilson Syndrome
Microphthalmia, Hypospadias, Microcornea, Bifid scrotum, Ectopia pupillae, Cataract, Cryptorchidi... OMIM:235730
Microphthalmia With Limb Anomalies
Microphthalmia, True anophthalmia, Cryptorchidism ORPHA:1106
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cataract, Microphthalmia ORPHA:306542
Digeorge Syndrome
Cholelithiasis, Hypoplasia of the thymus, Posterior embryotoxon, Parathyroid hypoplasia, Scleroco... OMIM:188400
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Bilateral microphthalmos, Hypospadias, Optic nerve hypoplasia, Microphallus, Cryptorchidism ORPHA:468631
Microphthalmia, Syndromic 6
Microphthalmia, Anterior hypopituitarism, Anophthalmia, Microcornea, Female hypogonadism, Scleroc... OMIM:607932
Aicardi Syndrome
Precocious puberty, Microphthalmia ORPHA:50
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Enlarged kidney, Hepatomegaly, Polycystic ovaries ORPHA:79259
Fontaine Progeroid Syndrome
Microphthalmia, Hypoplastic nipples, Absent nipple, Left ventricular hypertrophy, Small scrotum, ... OMIM:612289
Adams-Oliver Syndrome 1
Microphthalmia, Imperforate hymen, Supernumerary nipple OMIM:100300
Isolated Arrhinia
Microphthalmia ORPHA:1134
Hydrolethalus Syndrome 1
Microphthalmia, Adrenal gland dysgenesis, Hypospadias, Abnormal vagina morphology, Bifid uterus OMIM:236680
Witteveen-Kolk Syndrome
Microphthalmia, Decreased response to growth hormone stimulation test, Hypospadias, Phimosis, Ani... OMIM:613406
Roberts-Sc Phocomelia Syndrome
Microphthalmia, Clitoral hypertrophy, Enlarged labia minora, Hypospadias, Long penis, Corneal opa... OMIM:268300
Degcags Syndrome
Microphthalmia, Hepatomegaly, Hypospadias, Chordee, Hepatosplenomegaly, Ambiguous genitalia, Cryp... OMIM:619488
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia, Corneal opacity OMIM:608670
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Microphthalmia, Astigmatism, Hypospadias, Inability to walk, Broad-based gait, Microcornea, Axenf... ORPHA:261552
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Cataract, Microphthalmia, Nuclear pulverulent cataract, Sutural cataract OMIM:612474
Turner Syndrome Due To Structural X Chromosome Anomalies
Increased circulating gonadotropin level, Neck pterygia, Abnormality of the ovary, Gonadoblastoma ORPHA:99413
Turner Syndrome
Increased circulating gonadotropin level, Neck pterygia, Abnormality of the ovary, Gonadoblastoma ORPHA:881
Mosaic Monosomy X
Increased circulating gonadotropin level, Neck pterygia, Abnormality of the ovary, Gonadoblastoma ORPHA:99228
Monosomy X
Increased circulating gonadotropin level, Neck pterygia, Abnormality of the ovary, Gonadoblastoma ORPHA:99226
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Microphthalmia, Astigmatism, Hypospadias, Inability to walk, Broad-based gait, Axenfeld anomaly, ... ORPHA:261537
Mowat-Wilson Syndrome
Microphthalmia, Astigmatism, Hypospadias, Inability to walk, Broad-based gait, Axenfeld anomaly, ... ORPHA:2152
Branchiooculofacial Syndrome
Microphthalmia, Hypospadias, Anophthalmia, Cataract, Cryptorchidism, Supernumerary nipple, Iris c... OMIM:113620
Treacher Collins Syndrome 1
Bilateral microphthalmos, Cryptorchidism, Abnormal parotid gland morphology OMIM:154500
Holoprosencephaly 1
Microphthalmia, Micropenis OMIM:236100
Holoprosencephaly 2
Microphthalmia, Anterior pituitary agenesis, Iris coloboma OMIM:157170
Microphthalmia, Syndromic 1
Microphthalmia, Ciliary body coloboma, Hypospadias, Anophthalmia, Microcornea, Cryptorchidism, Ir... OMIM:309800
8Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Bilateral microphthalmos, Exocrine pancreatic insufficiency ORPHA:508488
Alström Syndrome
Posterior subcapsular cataract, Decreased response to growth hormone stimulation test, Hepatomega... 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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