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Gene: Mical2 MGI:2444947

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Gene Summary

Name:
microtubule associated monooxygenase, calponin and LIM domain containing 2
Synonyms:
4921517J23Rik,  5330438E18Rik,  Ebitein1,  Micalcl

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
decreased lean body mass Mical2em1(IMPC)Tcp HOM Late adult 3.64×10-06
abnormal seminal vesicle morphology Mical2em1(IMPC)Tcp HOM Late adult 0.00
enlarged uterus Mical2em1(IMPC)Tcp HOM Early adult 0.00
enlarged urinary bladder Mical2em1(IMPC)Tcp HOM Late adult 0.00
decreased prepulse inhibition Mical2em1(IMPC)Tcp HOM   Early adult 1.27×10-05
microphthalmia Mical2em1(IMPC)Tcp HOM Late adult 0.00
small kidney Mical2em1(IMPC)Tcp HOM Late adult 0.00
cataract Mical2em1(IMPC)Tcp HOM Late adult 1.71×10-05
abnormal skin morphology Mical2em1(IMPC)Tcp HOM Early adult 0.00
abnormal ovary morphology Mical2em1(IMPC)Tcp HOM Late adult 0.00
small heart Mical2em1(IMPC)Tcp HOM Late adult 0.00
enlarged lymph nodes Mical2em1(IMPC)Tcp HOM Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Ophthalmoscopy

172 Images

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Histopathology

Images

19 Images

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Eye Morphology

Images Ophthalmoscopy

5 Images

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Eye Morphology

Images Slit Lamp

18 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Electrocardiogram (ECG)

Waveform Image

4 Images

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Combined SHIRPA and Dysmorphology

Images

4 Images

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Histopathology

Images

4 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

7 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

7 Images

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Human diseases caused by Mical2 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 Mical2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Corneal opacity, Large for gestational age, Microcornea, Microphthalmia ORPHA:2432
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy, Cataract ORPHA:79281
Gombo Syndrome
Microphthalmia, Abnormal heart morphology OMIM:233270
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma OMIM:604219
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Cataract 11, Multiple Types
Microphthalmia, Cataract, Developmental cataract OMIM:610623
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Microphthalmia OMIM:251505
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcornea, Microphthalmia, Cataract, Hypogonadism ORPHA:2528
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Cataract, Hypogonadism, Decreased testicular size ORPHA:1875
Endometriosis, Susceptibility To, 1
Endometriosis OMIM:131200
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Cataract, Ventricular septal defect, Ectopic kidney, Cryptorchidism, Microphthalmia... OMIM:613730
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Microphthalmia, Cataract, Iris coloboma OMIM:120433
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, External genital hypoplasia, Cryptorchidism, Obesity, Hypogonadism, Microphthalmia ORPHA:363741
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Microphthalmia, Anophthalmia, Iris coloboma OMIM:616428
Microphthalmia, Syndromic 12
Anophthalmia, Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Bicornuate uter... OMIM:615524
Foveal Hypoplasia 2
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon OMIM:609218
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Mmep Syndrome
Microphthalmia, Ventricular septal defect, Cryptorchidism ORPHA:3434
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Cataract, Small for gestational age OMIM:278780
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Obesity, Hypogonadism, Microphthalmia ORPHA:141333
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Hypospadias, Cataract, Cryptorchidism, Tetra... ORPHA:1381
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Cryptorchidism, Obesity, Hypogonadism, Microphthalmia OMIM:601794
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Microphthalmia, Isolated 4
Microphthalmia, Absent testis OMIM:613094
Microphthalmia, Isolated 2
Microphthalmia, Opacification of the corneal stroma OMIM:610093
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Iris coloboma, Anophthalmia, Bilateral microphthalmos OMIM:611638
2Q24 Microdeletion Syndrome
Cataract, Small for gestational age, Abnormality iris morphology, Microphthalmia, Failure to thrive ORPHA:1617
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Corneal opacity, Hematuria, Microphthalmia, Posterior embryotoxon, Iris coloboma ORPHA:1473
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Iris coloboma OMIM:614497
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Truncal obesity, Micropenis, Cataract, Childhood-onset truncal obesity OMIM:610156
Cerebrooculofacioskeletal Syndrome 2
Cataract, Small scrotum, Small for gestational age, Developmental cataract, Microphthalmia, Micro... OMIM:610756
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante... OMIM:269400
Congenital Varicella Syndrome
Microphthalmia, Cataract ORPHA:291
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ... OMIM:604229
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... ORPHA:206484
Xk Aprosencephaly Syndrome
Atrial septal defect, Microphthalmia, Ventricular septal defect, Abnormal external genitalia ORPHA:3469
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Peters anomaly, Atrial septal ... OMIM:618652
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m... ORPHA:2334
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... OMIM:612965
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly OMIM:610023
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Warburg Micro Syndrome 1
External genital hypoplasia, Cryptorchidism, Developmental cataract, Microcornea, Microphthalmia,... OMIM:600118
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus OMIM:258320
Cofs Syndrome
Microphthalmia, Cataract, Hypogonadism ORPHA:1466
Meckel Syndrome, Type 8
Anophthalmia, Pericardial effusion, Polycystic kidney dysplasia, Ambiguous genitalia, Microphthal... OMIM:613885
Microphthalmia, Isolated 6
Microcornea, Microphthalmia OMIM:613517
Adams-Oliver Syndrome 4
Atrial septal defect, Microphthalmia, Ventricular septal defect OMIM:615297
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microcornea, Microphthalmia, Cataract OMIM:616171
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Developmental cataract, Left ventricular hypertrophy, Microphthalmia, M... ORPHA:335
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Uraciluria, Failure to thrive OMIM:274270
Nanophthalmos
Microphthalmia ORPHA:35612
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Anophthalmia, Cataract, Optic nerve hypoplasia, Cryptorchidism, Micr... OMIM:610125
Wagr Syndrome
Cataract, Cryptorchidism, Obesity, Aplasia/Hypoplasia of the iris, Ambiguous genitalia, Displacem... ORPHA:893
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Cataract, Failure to thrive in infancy, Dilated cardiomyopathy, Microphthalmia OMIM:618805
Matthew-Wood Syndrome
Anophthalmia, Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kid... ORPHA:2470
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve, Bilateral microphthalmos, Unilateral microphthalmos, Horseshoe kidney, Vag... OMIM:619318
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Rudiger Syndrome
Ovarian cyst, Micropenis, Bicornuate uterus OMIM:268650
Pierpont Syndrome
Cryptorchidism, Microcornea, Decreased body weight, Microphthalmia, Micropenis, Failure to thrive OMIM:602342
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Persistent ... ORPHA:1067
Microphthalmia, Syndromic 13
Microcornea, Microphthalmia, Iris coloboma OMIM:300915
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Uterus didelphys, Partial vaginal septum, Abnormal uterine cervix morphology ORPHA:3411
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Ocular anterior segment dysgenesis, Developmental cataract ORPHA:324416
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microcornea, Microphthalmia, Cataract, Hypogonadotropic hypogonadism ORPHA:48431
Trisomy 13
Anophthalmia, Ventricular septal defect, Displacement of the urethral meatus, Cataract, Cryptorch... ORPHA:3378
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ambiguous genitalia, Microphthalmia, Cataract, Ventricular septal defect ORPHA:93267
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... OMIM:217300
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Pierpont Syndrome
Microcornea, Microphthalmia, Small for gestational age, Cryptorchidism ORPHA:487825
Congenital Rubella Syndrome
Hepatomegaly, Cataract, Ventricular septal defect, Corneal opacity, Splenomegaly, Aplasia/Hypopla... ORPHA:290
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Microphthalmia, Syndromic 8
Microcornea, Microphthalmia, Cryptorchidism OMIM:601349
Microphthalmia, Isolated 5
Microphthalmia, Cataract OMIM:611040
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ... ORPHA:168563
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A... ORPHA:65681
Cat-Eye Syndrome
Hydronephrosis, Microphthalmia, Iris coloboma ORPHA:195
Nanophthalmos 4
Microphthalmia OMIM:615972
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Conge... ORPHA:83461
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Anophthalmia, Hypospadias, Ventricular septal defect, Sclerocornea, Cryptorc... ORPHA:77298
Bresek Syndrome
Optic nerve hypoplasia, Cryptorchidism, Renal hypoplasia, Vesicoureteral reflux, Microphthalmia, ... ORPHA:85284
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Cataract, Sclerocornea, Cryptorchidism, Microcornea, Microphthalmia, Iris coloboma ORPHA:139471
Congenital Toxoplasmosis
Hepatomegaly, Microphthalmia, Failure to thrive in infancy, Cardiomegaly ORPHA:858
Kapur-Toriello Syndrome
Hypoplasia of penis, Failure to thrive, Ventricular septal defect, Hypoplastic labia majora, Micr... ORPHA:2328
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia, Sclerocornea OMIM:611038
Seckel Syndrome 2
Small for gestational age, Microphthalmia, Hypospadias, Ectopic kidney OMIM:606744
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia, Shallow anterior chamber OMIM:267760
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Developmental cataract, Cardiomyopathy OMIM:613155
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:300510
Premature Ovarian Failure 7
Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy OMIM:612964
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Optic nerve hypoplasia, Decreased response to growth hormone stimulati... OMIM:609053
Warburg Micro Syndrome 3
Small scrotum, Cataract, Hypoplastic labia minora, Developmental cataract, Microcornea, Shallow a... OMIM:614222
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Hypospadias, Cryptorchidism, Abnormal heart morphology, Astigmatism, P... ORPHA:494344
Diethylstilbestrol Syndrome
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... ORPHA:1916
Warburg Micro Syndrome 2
Small scrotum, Cataract, Cryptorchidism, Developmental cataract, Hypoplastic labia majora, Microc... OMIM:614225
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, 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
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia, Cataract OMIM:251270
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Hypoplasia of penis, Hydroureter ORPHA:2547
Joubert Syndrome 37
Hepatomegaly, Cryptorchidism, Obesity, Hydronephrosis, Microphthalmia, Micropenis, Decreased test... OMIM:619185
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Astigmatism, Cataract OMIM:619694
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Abnormal ... OMIM:618494
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Ureteral agenesis, Microphtha... OMIM:617914
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Sclerocornea, Cryptorchidism, Limbal dermoid, Hypoplasia of the iris, ... OMIM:613001
Warburg Micro Syndrome 4
Small scrotum, Cryptorchidism, Developmental cataract, Microcornea, Microphthalmia, Micropenis, D... OMIM:615663
Hypogonadism-Cataract Syndrome
Male hypogonadism, Cataract, Hypogonadism, Elevated circulating follicle stimulating hormone level OMIM:240950
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Hypospadias, Ventricular septal defect, Sclerocornea, Ovotestis, Cataract, Hypo... OMIM:309801
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Cataract, Multicystic kidney dysplasia, Cryptorchidism, Microcornea, Micro... ORPHA:3301
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia, Cryptorchidism OMIM:164180
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... OMIM:614841
Kapur-Toriello Syndrome
Cataract, Ventricular septal defect, Cryptorchidism, Hypoplastic labia majora, Atrial septal defe... OMIM:244300
Fowler Urethral Sphincter Dysfunction Syndrome
Dysuria, Urinary incontinence, Abnormality of the urethra, Polycystic ovaries, Urinary retention,... ORPHA:2795
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Microphthalmia, Posterior lenticonus, Iris coloboma ORPHA:231736
Lissencephaly 8
Microphthalmia, Cataract OMIM:617255
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, Ketonuria, Renal hypoplasia, Microphthalmia, Hypertrophic cardiomyopathy OMIM:619053
Baraitser-Winter Syndrome 1
Bicuspid aortic valve, Cryptorchidism, Aortic valve stenosis, Microphthalmia, Micropenis, Failure... OMIM:243310
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Linear Skin Defects With Multiple Congenital Anomalies 2
Atrial septal defect, Microphthalmia, Tetralogy of Fallot, Ventricular hypertrophy OMIM:300887
Spondylo-Ocular Syndrome
Cataract, Aplasia/Hypoplasia of the lens, Ventricular septal defect, Microphthalmia, Iris hypopig... ORPHA:85194
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Cataract, Optic nerve hypoplasia OMIM:615181
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Hypospadias, Cataract, Sclerocornea, Precocious puberty, Microcornea, Ectopia pupil... OMIM:615877
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus OMIM:601076
Developmental And Epileptic Encephalopathy 1
Microphthalmia, Micropenis OMIM:308350
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Corneal scarring, Buphthalmos, Microphthalmia, Iris coloboma OMIM:212550
Perrault Syndrome 3
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:614129
Cerebrooculofacioskeletal Syndrome 1
Cataract, Small for gestational age, Cryptorchidism, Microphthalmia, Failure to thrive OMIM:214150
Cataract 47
Microcornea, Cataract, Glycosuria OMIM:612018
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... OMIM:614837
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism, Microphthalmia OMIM:152950
Joubert Syndrome 22
Microphthalmia, Renal hypoplasia OMIM:615665
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... OMIM:194072
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... ORPHA:2975
Mosaic Trisomy 9
Hypoplasia of penis, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Co... ORPHA:99776
Micro Syndrome
Hypoplasia of penis, Cataract, Cryptorchidism, Hypoplastic labia minora, Microcornea, Clitoral hy... ORPHA:2510
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypoplasia of penis, Uterus didelphys ORPHA:2491
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Buphthalmos, Microcornea, Shallow anterior... OMIM:221900
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... ORPHA:325124
Premature Ovarian Failure 13
Hypoplasia of the uterus OMIM:617442
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Proteinuria, Cryptorchidism, Multiple bladder diverticula, Atrial septal defect, M... ORPHA:2728
Ovarian Fibrothecoma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary, Abnormal endometrium morphology ORPHA:314478
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Frontonasal Dysplasia 1
Microphthalmia, Tetralogy of Fallot, Cataract OMIM:136760
Basel-Vanagaite-Smirin-Yosef Syndrome
Cataract, Ventricular septal defect, Hypospadias, Microcornea, Atrial septal defect, Microphthalm... OMIM:616449
Nance-Horan Syndrome
Microcornea, Microphthalmia, Cataract ORPHA:627
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Trichothiodystrophy 3, Photosensitive
Cataract, Bilateral cryptorchidism, Developmental cataract, Microphthalmia, Failure to thrive OMIM:616395
Hereditary Leiomyomatosis And Renal Cell Cancer
Uterine leiomyoma, Uterine leiomyosarcoma, Vaginal neoplasm, Cataract ORPHA:523
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Corneal opacity, Isosexual precocious puberty ORPHA:2788
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Genital ulcers, Splenomegaly, Lymph node hypo... OMIM:602450
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Sandestig-Stefanova Syndrome
Small for gestational age, Muscular ventricular septal defect, Developmental cataract, Perimembra... OMIM:618804
Caudal Duplication
Abnormal penis morphology, Cryptorchidism, Uterus didelphys ORPHA:1756
Donnai-Barrow Syndrome
Bicornuate uterus, Abnormality of the uterus ORPHA:2143
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lens coloboma, Renal hypoplasia, Pulmonic stenosis, Microphthalmia, Patent foramen ovale OMIM:618914
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Pseudotrisomy 13 Syndrome
Ventricular septal defect, Dextrocardia, Cryptorchidism, Complete atrioventricular canal defect, ... OMIM:264480
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, Hypogonadotropic hypogonadism ORPHA:1135
46,Xx Sex Reversal 1
True hermaphroditism, Hypospadias, Ovotestis, Sex reversal, Azoospermia, Bicornuate uterus, Clito... OMIM:400045
Multiple Benign Circumferential Skin Creases On Limbs
Small scrotum, Hypospadias, Cryptorchidism, Microcornea, Abnormality of the scrotum, Microphthalmia ORPHA:2505
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary OMIM:612310
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Bartsocas-Papas Syndrome 2
Corneal opacity, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pterygium OMIM:619339
Temtamy Syndrome
Microphthalmia, Iris coloboma ORPHA:1777
Isolated Aniridia
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Microcornea, Iris transillumination defect, Decreased body weight, Microphthalmia OMIM:617306
Fanconi Anemia, Complementation Group S
Microphthalmia, Failure to thrive, Ovarian carcinoma, Ovarian neoplasm OMIM:617883
Walker-Warburg Syndrome
Hypoplasia of penis, Anophthalmia, Corneal opacity, Cataract, Cryptorchidism, Microcornea, Microp... ORPHA:899
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Cataract, Methylmalonic aciduria, Elevated urinary aminoi... OMIM:614105
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Developmental cataract, Buphthalmos, Micro... ORPHA:91495
Microphthalmia, Syndromic 9
Anophthalmia, Ventricular septal defect, Cryptorchidism, Bilateral microphthalmos, Hypoplastic le... OMIM:601186
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina OMIM:277000
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Papillorenal Syndrome
Multicystic kidney dysplasia, Cataract, Proteinuria, Lens luxation, Absence of renal corticomedul... OMIM:120330
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619203
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Ventricular septal defect OMIM:602501
Renal Hypodysplasia/Aplasia 3
Abnormality of the uterus OMIM:617805
46,Xy Sex Reversal 11
Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem... OMIM:273250
Satoyoshi Syndrome
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u... ORPHA:3130
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Meckel Syndrome, Type 4
Ventricular septal defect, Renal cyst, Bile duct proliferation, Atrial septal defect, Microphthalmia OMIM:611134
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619665
Oculofaciocardiodental Syndrome
Cataract, Ectopia lentis, Mitral valve prolapse, Microcornea, Abnormal cardiac septum morphology,... ORPHA:2712
3Q29 Microduplication Syndrome
Cataract, Ventricular septal defect, Sclerocornea, Obesity, Aniridia, Microphthalmia, Iris coloboma ORPHA:251038
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca, Microphthalmia ORPHA:1806
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
8Q21.11 Microdeletion Syndrome
Hypoplasia of penis, Cataract, Corneal opacity, Sclerocornea, Cryptorchidism, Microphthalmia, Iri... ORPHA:284160
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Optic nerve hypoplasia, Abnormality iris morphology, Cardiomyopathy, Microphthalmia, Me... ORPHA:370959
Aniridia 2
Aniridia, Iris coloboma, Cataract, Lens subluxation OMIM:617141
Amed Syndrome, Digenic
Hypoplasia of the uterus, Bone marrow hypocellularity OMIM:619151
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Microphthalmia, Lenz Type
Cataract, Hypospadias, Hydroureter, Cryptorchidism, Microcornea, Hydronephrosis, Microphthalmia, ... ORPHA:568
Frontofacionasal Dysplasia
Cataract, Brushfield spots, Microcornea, Limbal dermoid, Microphthalmia, Iris coloboma ORPHA:1791
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Oculoauricular Syndrome
Cataract, Sclerocornea, Phthisis bulbi, Developmental cataract, Microcornea, Iris cyst, Macular h... OMIM:612109
Perrault Syndrome 4
Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia of the ovary OMIM:615300
Temtamy Syndrome
Microphthalmia, Ectopia lentis, Iris coloboma, Lens luxation OMIM:218340
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Anophthalmia, Cataract, External genital hypoplasia, Cryptorchidism, Hypogon... ORPHA:2250
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Anterio... OMIM:206900
Gracile Bone Dysplasia
Aniridia, Microphthalmia, Micropenis, Failure to thrive OMIM:602361
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Obesity, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis ORPHA:3191
Microphthalmia, Isolated, With Coloboma 9
Sclerocornea, Microcornea, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma OMIM:615145
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia, Failure to thrive, Cataract OMIM:612379
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Corneal opacity, Peters anomaly, Vesicoureteral reflux, Microphthalmia OMIM:120200
Refsum Disease
Renal insufficiency, Cataract, Splenomegaly, Cardiomyopathy, Microphthalmia ORPHA:773
Stromme Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Bilateral renal hypoplasia, Microcornea, Hydronep... OMIM:243605
Vitreoretinochoroidopathy
Microcornea, Microphthalmia, Pulverulent cataract, Developmental cataract OMIM:193220
Meckel Syndrome, Type 5
Microphthalmia, Bile duct proliferation, Renal cyst OMIM:611561
Marden-Walker Syndrome
Hypospadias, Dextrocardia, Cryptorchidism, Renal hypoplasia, Microphthalmia, Micropenis OMIM:248700
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Cryptorchidism, Vesicoureteral reflux, Ren... OMIM:603467
3Q29 Microdeletion Syndrome
Cataract, Hypospadias, Horseshoe kidney, Subvalvular aortic stenosis, Microphthalmia, Failure to ... ORPHA:65286
Microphthalmia, Syndromic 11
Microphthalmia, Agenesis of pineal gland OMIM:614402
Otodental Syndrome
Cataract, Lens coloboma, Microcornea, Microphthalmia, Iris coloboma ORPHA:2791
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Obesity ORPHA:247768
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Unilateral microphthalmos, Mitral valve prolapse, Macroorchidism, Failure to thrive,... OMIM:618874
1Q21.1 Microdeletion Syndrome
Cataract, Cryptorchidism, Hydronephrosis, Abnormal cardiac septum morphology, Vesicoureteral refl... ORPHA:250989
Omodysplasia 2
Hypospadias, Cryptorchidism, Uterus didelphys, Clitoral hypoplasia, Labial hypoplasia, Micropenis OMIM:164745
Aniridia-Absent Patella Syndrome
Aniridia, Cryptorchidism, Cataract ORPHA:1069
Fryns Syndrome
Multicystic kidney dysplasia, Hypospadias, Corneal opacity, Cryptorchidism, Abnormal cardiac sept... ORPHA:2059
Bardet-Biedl Syndrome 1
Cataract, Abnormality of the ovary, Obesity, Truncal obesity, Abdominal obesity, Astigmatism, Hyp... OMIM:209900
Hydrolethalus
Cryptorchidism, Microphthalmia, Anophthalmia, Abnormal fallopian tube morphology ORPHA:2189
Rodrigues Blindness
Microcornea, Microphthalmia, Sclerocornea OMIM:268320
Meckel Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Anophthalmia, True hermaphroditism, Pancreati... ORPHA:564
Martsolf Syndrome 1
Cataract, Hypogonadotropic hypogonadism, Cryptorchidism, Developmental cataract, Cardiomyopathy, ... OMIM:212720
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
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Cryptorchidism, Bilateral microphthalmos, Abnormal heart morphology, O... ORPHA:369891
Moebius Syndrome
Microphthalmia, Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size OMIM:157900
Idiopathic Uveal Effusion Syndrome
Microphthalmia, Abnormal anterior eye segment morphology ORPHA:209956
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect, Microphthalmia, Peters anomaly OMIM:614526
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Corneal opacity, Cardiomegaly, Renal cyst, Polycystic ov... ORPHA:137675
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia, Cataract, Oligosacchariduria ORPHA:163649
Cat Eye Syndrome
Ventricular septal defect, Vesicoureteral reflux, Horseshoe kidney, Hydronephrosis, Hypoplastic l... OMIM:115470
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Jacobsen Syndrome
Hypospadias, Ventricular septal defect, Cryptorchidism, Microcornea, Clitoral hypoplasia, Macular... OMIM:147791
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Hepatomegaly, Failure to thrive, Unilateral microphthalmos OMIM:615085
Complete Androgen Insensitivity Syndrome
Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ... ORPHA:99429
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... ORPHA:83628
Nance-Horan Syndrome
Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract OMIM:302350
Linear Skin Defects With Multiple Congenital Anomalies 3
Thyroid C cell hyperplasia, Sclerocornea, Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Mi... OMIM:300952
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia, Small scrotum, Hypogonadism, Cryptorchidism ORPHA:228390
Fanconi Anemia, Complementation Group E
Small for gestational age, Hypergonadotropic hypogonadism, Ectopic kidney, Cryptorchidism, Horses... OMIM:600901
Renal Hypodysplasia/Aplasia 1
Bicornuate uterus, Vaginal atresia OMIM:191830
Denys-Drash Syndrome
True hermaphroditism, Septate vagina, Gonadal tissue inappropriate for external genitalia or chro... OMIM:194080
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Cataract, Abnormally large globe OMIM:615249
17Q12 Microduplication Syndrome
Atrial septal defect, Microphthalmia ORPHA:261272
Adams-Oliver Syndrome 2
Microphthalmia, Developmental cataract OMIM:614219
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P... ORPHA:90797
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Abnormal heart morphology, Ventricular septal defect, Cryptorchidism ORPHA:404440
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Duane-Radial Ray Syndrome
Cataract, Ventricular septal defect, Optic disc hypoplasia, Vesicoureteral reflux, Renal hypoplas... OMIM:607323
Gillessen-Kaesbach-Nishimura Syndrome
Bicornuate uterus OMIM:263210
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Corneal opacity, Bilateral microphthalmos, Microphthalmia, Conjunctival hyperemia ORPHA:2399
Trisomy 18
Cataract, Ventricular septal defect, Cachexia, Cryptorchidism, Microcornea, Hydronephrosis, Atria... ORPHA:3380
Phace Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Abnormal heart morphology, Abnorma... ORPHA:42775
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Sclerocornea, Cryptorchidism, Microphthalmia, Micropenis OMIM:614230
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... ORPHA:432
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Cataract, Microphthalmia, Astigmatism, Abnormal heart morphology OMIM:618571
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... OMIM:154230
Fanconi Anemia, Complementation Group A
Small for gestational age, Hypergonadotropic hypogonadism, Ectopic kidney, Cryptorchidism, Horses... OMIM:227650
Meckel Syndrome, Type 2
Microphthalmia, Bile duct proliferation, Renal cyst OMIM:603194
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Hypospadias, Small for gestational age, Cryptorchidism, Penoscrotal transposition,... OMIM:619148
Pelvis-Shoulder Dysplasia
Microphthalmia, Iris coloboma, Opacification of the corneal stroma OMIM:169550
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Posterior embryotoxon, Anophthalmia, Hypospadias, Corneal opacity, Scl... ORPHA:2556
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia, Decreased body weight OMIM:614833
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Abnormality of the uterus, Limbal dermoid, Ve... ORPHA:857
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Satoyoshi Syndrome
Hypoplasia of the uterus OMIM:600705
Pierson Syndrome
Diffuse mesangial sclerosis, Rieger anomaly, Hypoplasia of the ciliary body, Cataract, Proteinuri... OMIM:609049
Ring Chromosome 10 Syndrome
Microphthalmia, Cachexia ORPHA:1438
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Ventricular septal defect, Developmental cataract, Microcornea, Male urethral meatus... ORPHA:464738
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Microphthalmia, Micropenis... OMIM:241410
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corneal neovascu... OMIM:278730
Pallister-Hall Syndrome
Thyroid dysgenesis, Hydroureter, Ventricular septal defect, Decreased response to growth hormone ... OMIM:146510
Ritscher-Schinzel Syndrome 3
Microphthalmia, Atrioventricular canal defect, Cryptorchidism OMIM:619135
Acro-Renal-Ocular Syndrome
Cataract, Optic disc hypoplasia, Horseshoe kidney, Microcornea, Bladder diverticulum, Vesicourete... ORPHA:959
Trichothiodystrophy 1, Photosensitive
Cataract, Small for gestational age, Microcornea, Keratoconjunctivitis sicca, Hypogonadism, Micro... OMIM:601675
X-Linked Dominant Chondrodysplasia Punctata
Microcornea, Microphthalmia, Cataract, Hydronephrosis ORPHA:35173
Adams-Oliver Syndrome
Cataract, Abnormal pulmonary valve morphology, Tetralogy of Fallot, Microphthalmia, Failure to th... ORPHA:974
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Cataract, Proteinuria, Corneal erosion, Stage 5 chronic kidney disease, Hema... OMIM:203780
Phace Association
Ventricular septal defect, Optic nerve hypoplasia, Developmental cataract, Microphthalmia, Lingua... OMIM:606519
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Cataract, Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, Pulmo... OMIM:253800
Ehlers-Danlos Syndrome, Classic-Like
Ambiguous genitalia, female, Bicornuate uterus OMIM:606408
Trichothiodystrophy 4, Nonphotosensitive
Microcornea, Microphthalmia, Keratoconjunctivitis sicca, Ventricular septal defect OMIM:234050
Mosaic Trisomy 1
Ventricular septal defect, Renal cyst, Renal cortical cysts, Opacification of the corneal stroma,... ORPHA:1692
Tetraamelia Syndrome 1
Cataract, Hypoplasia of the fallopian tube, Absent external genitalia, Urethral atresia, Adrenal ... OMIM:273395
Microphthalmia With Limb Anomalies
Microphthalmia, Failure to thrive, Anophthalmia, Unilateral cryptorchidism OMIM:206920
Meckel Syndrome 14
Polycystic kidney dysplasia, Aplasia of the uterus, Ambiguous genitalia, Microphthalmia, Single v... OMIM:619879
Townes-Brocks Syndrome 2
Rectovaginal fistula, Hypospadias, Bifid uterus OMIM:617466
Fanconi Anemia
Abnormality of the uterus, Atrial septal defect, Hypospadias, Cryptorchidism, Aplasia/Hypoplasia ... ORPHA:84
Bartsocas-Papas Syndrome 1
Pterygium, Absent external genitalia, Bilateral cryptorchidism, Ectopic kidney, Hypoplastic labia... OMIM:263650
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Conjunctival hyperemia OMIM:167730
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Ventricular septal defect, Supernumerary nipple, Cryptorchidism OMIM:612530
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Corneal opacity, Optic nerve hypoplasia, Peters anomaly, Cryptorchidism, Buphthalmos, H... OMIM:236670
Blepharophimosis, Ptosis, And Epicanthus Inversus
Hypoplasia of the uterus, Microphthalmia, Increased circulating gonadotropin level, Microcornea OMIM:110100
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Cataract, Hypogonadism OMIM:610651
Bosma Arhinia Microphthalmia Syndrome
Cataract, Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Hypoplastic labia majora, M... OMIM:603457
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia, Shallow anterior chamber OMIM:305390
Hand-Foot-Genital Syndrome
Bicornuate uterus, Hypospadias, Abnormality of the uterus ORPHA:2438
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Aplasia of the vagina, Uterus didelphys, Septate vagina OMIM:146255
Meckel Syndrome 12
Hypoplasia of the uterus, Vaginal atresia OMIM:616258
Fanconi Anemia, Complementation Group C
Small for gestational age, Ventricular septal defect, Hypergonadotropic hypogonadism, Ectopic kid... OMIM:227645
Cohen Syndrome
Ventricular septal defect, Failure to thrive in infancy, Cryptorchidism, Obesity, Mitral valve pr... ORPHA:193
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism, Pulmonary lymphangiectasia, Hepatosple... ORPHA:1655
Teebi Hypertelorism Syndrome 1
Hydrocele testis, Bicornuate uterus, Shawl scrotum OMIM:145420
Oculodentodigital Dysplasia, Autosomal Recessive
Cataract, Microcornea, Persistent pupillary membrane, Microphthalmia, Failure to thrive OMIM:257850
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... OMIM:202010
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Cataract, Small for gestational age, Proteinuri... OMIM:251300
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Ventricular septal defect, Corneal opacity, Ectopia lentis, Horsesh... ORPHA:2092
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... OMIM:158330
Estrogen Resistance
Hypoplasia of the uterus, Polycystic ovaries OMIM:615363
Frontorhiny
Microphthalmia, Hypopituitarism, Cataract, Iris coloboma ORPHA:391474
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Stevenson-Carey Syndrome
Atrial septal defect, Microphthalmia OMIM:611961
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia, Cataract OMIM:616538
Fryns Syndrome
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Ventricular septal d... OMIM:229850
Solitary Median Maxillary Central Incisor
Microphthalmia, Anterior hypopituitarism, Anophthalmia, Decreased response to growth hormone stim... OMIM:147250
Mosaic Variegated Aneuploidy Syndrome
Atrial septal defect, Multicystic kidney dysplasia, Cataract, Corneal opacity, Vaginal neoplasm, ... ORPHA:1052
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia, Vaginal atresia OMIM:248450
Microphthalmia, Syndromic 2
Anophthalmia, Hypospadias, Ventricular septal defect, Septate vagina, Dextrocardia, Cryptorchidis... OMIM:300166
Familial Exudative Vitreoretinopathy
Microphthalmia, Cataract ORPHA:891
Hand-Foot-Genital Syndrome
Bifid scrotum, Hypospadias, Uterus didelphys, Chordee, Longitudinal vaginal septum, Micropenis OMIM:140000
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Anophthalmia, Crossed fused renal ectopia, Horseshoe ... ORPHA:2538
Basal Cell Nevus Syndrome 1
Ovarian fibroma, Cataract, Cardiac fibroma, Cardiac rhabdomyoma, Ovarian carcinoma, Microphthalmi... OMIM:109400
Joubert Syndrome 2
Renal insufficiency, Renal cyst, Nephronophthisis, Hypoplastic male external genitalia, Microphth... OMIM:608091
Joubert Syndrome 14
Microphthalmia, Ventricular septal defect, Renal cyst OMIM:614424
Cockayne Syndrome Type 3
Hepatomegaly, Renal insufficiency, Cataract, Neurogenic bladder, Hydroureter, Unilateral renal ag... ORPHA:90324
Proboscis Lateralis
Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, External genital hypoplasia, Cor... ORPHA:141099
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie... ORPHA:90796
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia, Ectopia pupillae, Astigmatism, Cataract OMIM:618727
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia, Failure to thrive, Cataract, Hydronephrosis OMIM:302960
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Abnormal cardiac septum morphology, Ocular albinism ORPHA:1352
Duplication Of Urethra
Bifid scrotum, Hypospadias, Septate vagina, Epispadias, Coronal hypospadias, Uterus didelphys, Ch... ORPHA:237
Fanconi Anemia, Complementation Group D2
Hypergonadotropic hypogonadism, Small for gestational age, Ectopic kidney, Cryptorchidism, Annula... OMIM:227646
Cerebrooculofacioskeletal Syndrome 4
Decreased body weight, Bilateral microphthalmos, Failure to thrive in infancy, Abnormal heart mor... OMIM:610758
Vacterl With Hydrocephalus
Anophthalmia, Cryptorchidism, Microcornea, Abnormal fallopian tube morphology, Microphthalmia ORPHA:3412
3P25.3 Microdeletion Syndrome
Atrial septal defect, Microphthalmia, Ventricular septal defect, Pulmonic stenosis ORPHA:435638
Prune Belly Syndrome
Decreased testicular size, Cryptorchidism, Abnormality of the uterus, Urogenital sinus anomaly ORPHA:2970
22Q11.2 Deletion Syndrome
Hypoplasia of the thymus, Abnormality of the uterus, Vesicoureteral reflux, Atrial septal defect,... ORPHA:567
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos, Microcornea, Hydronephrosis, Ambiguous genitalia, Iris coloboma ORPHA:2839
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymph node hypoplasia, Absent tonsils ORPHA:276
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Buphthalmos, Persistent pupillary membrane, Peters anomaly, Microphthalmia OMIM:613150
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Hypospadias, Optic nerve hypoplasia, Truncus arteriosus, Ventricular septa... ORPHA:508498
Monosomy 9Q22.3
Ovarian fibroma, Cataract, Large for gestational age, Cardiac fibroma, Microphthalmia ORPHA:77301
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Acro-Renal-Mandibular Syndrome
Bicornuate uterus, Uterus didelphys ORPHA:958
Ohdo Syndrome, X-Linked
Small scrotum, Cryptorchidism, Shawl scrotum, Microphthalmia, Micropenis, Decreased body weight OMIM:300895
Curry-Jones Syndrome
Microphthalmia, Iris coloboma ORPHA:1553
Monosomy 18P
Microphthalmia ORPHA:1598
Oeis Complex
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... OMIM:258040
Skin Creases, Congenital Symmetric Circumferential, 1
Microcornea, Microphthalmia, Hypoplastic nipples OMIM:156610
Treacher-Collins Syndrome
Hypoplasia of penis, Small scrotum, Cataract, Cryptorchidism, Hypoplasia of the thymus, Rectovagi... ORPHA:861
Oculopalatocerebral Syndrome
Microphthalmia, Leukocoria OMIM:257910
Hypoplasminogenemia
Nephrolithiasis, Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Fraser Syndrome 2
Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Hypoplasia of the thymus, Ambiguo... OMIM:617666
Incontinentia Pigmenti
Hypoplasia of the fovea, Cataract, Supernumerary nipple, Keratitis, Breast aplasia, Hypoplastic n... OMIM:308300
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of penis, Hypospadias, Cryptorchidism, Abnormal cardiac septum morphology, Ambiguous g... ORPHA:2166
Fanconi Anemia, Complementation Group R
Microphthalmia, Pelvic kidney OMIM:617244
Rothmund-Thomson Syndrome, Type 2
Cataract, Small for gestational age, Cryptorchidism, Microcornea, Hypogonadism, Microphthalmia, A... OMIM:268400
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Corneal ulceration, Conjunctivitis, Recurrent corneal erosions, Microp... OMIM:153400
Cousin Syndrome
Ambiguous genitalia, female, Microcornea, Ambiguous genitalia, male, Microphthalmia, Hydronephrosis OMIM:260660
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Mend Syndrome
Cataract, Cryptorchidism, Abnormal heart morphology, Microphthalmia, Aortic valve stenosis, Failu... ORPHA:401973
Heart And Brain Malformation Syndrome
Microphthalmia, Ventricular septal defect OMIM:616920
Cockayne Syndrome B
Hepatomegaly, Renal insufficiency, Small for gestational age, Proteinuria, Cryptorchidism, Spleno... OMIM:133540
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Yunis-Varon Syndrome
Cataract, Hypospadias, Ventricular septal defect, Sclerocornea, Cardiomegaly, Cryptorchidism, Bil... ORPHA:3472
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus OMIM:266810
Holoprosencephaly
Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Abnormal pulmonary valve morphology... ORPHA:2162
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Cataract, Cryptorchidism, Renal hypoplasia, Atrial septal defect, Microphthalmia, Patent foramen ... OMIM:620005
Fetal Alcohol Syndrome
Atrial septal defect, Microphthalmia ORPHA:1915
Chromosome 13Q14 Deletion Syndrome
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Microphthalmia, Micropenis, Pate... OMIM:613884
46,Xx Gonadal Dysgenesis
Ambiguous genitalia, Gonadal dysgenesis, Streak ovary, Aplasia/hypoplasia of the uterus ORPHA:243
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Renal hypoplasia, Aplasia of the uterus, Microphthalmia, Micropenis OMIM:614083
Purine Nucleoside Phosphorylase Deficiency
Splenomegaly, Lymph node hypoplasia OMIM:613179
Steinfeld Syndrome
Microphthalmia, Abnormal heart morphology, Iris coloboma, Absent gallbladder OMIM:184705
Cockayne Syndrome
Hepatomegaly, Neurogenic bladder, Cataract, Renal insufficiency, Urinary incontinence, Cachexia, ... ORPHA:191
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia, Supernumerary nipple OMIM:620098
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Septate vagina, Complete atrioventricular canal defect, Uterus didelphys, Mic... OMIM:617925
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Microphthalmia, Small for gestational age, Developmental cataract OMIM:127000
Meacham Syndrome
Accessory spleen, Septate vagina, Male pseudohermaphroditism, Blind vagina, Bicornuate uterus OMIM:608978
Renpenning Syndrome 1
Cataract, Hypospadias, Ventricular septal defect, Phimosis, Situs inversus totalis, Renal hypopla... OMIM:309500
Donnai-Barrow Syndrome
Bicornuate uterus OMIM:222448
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Hypoplasia of the uterus ORPHA:785
Charge Syndrome
Anophthalmia, Decreased response to growth hormone stimulation test, External genital hypoplasia,... OMIM:214800
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Ventricular septal defect, Cryptorchidism, Renal cyst, Peters anomaly, Vesicouretera... OMIM:616975
Mycophenolate Mofetil Embryopathy
Microphthalmia, Ventricular septal defect, Iris coloboma, Ectopic kidney ORPHA:268249
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Septate vagina, Bicornuate uterus, Rectovaginal fistula, Labial hypoplasia, Clitoral hypertrophy OMIM:300707
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cryptorchidism, Renal hypoplasia, Renal cyst, Ambiguous genitalia, Microphthalmia OMIM:616300
Charge Syndrome
Bifid scrotum, Anophthalmia, Hypogonadotropic hypogonadism, Cryptorchidism, Tetralogy of Fallot, ... ORPHA:138
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Glo... OMIM:617729
2Q31.1 Microdeletion Syndrome
Ventricular septal defect, Cryptorchidism, Atrial septal defect, Microphthalmia, Iris coloboma ORPHA:251014
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Hypoplastic left heart, P... OMIM:100300
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Abnormality of male external genitalia, Adrenal hyperplasia, Abnormal externa... ORPHA:95699
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Hypoplastic labia majora, Hypoplasia of the uterus, Clitoral hypoplasia, Gonada... OMIM:618419
Teebi-Shaltout Syndrome
Ureteral stenosis, Ventricular septal defect, Horseshoe kidney, Microphthalmia, Aortic valve sten... OMIM:272950
Meckel Syndrome, Type 1
External genital hypoplasia, Cryptorchidism, Splenomegaly, Ambiguous genitalia, female, Abnormali... OMIM:249000
Fraser Syndrome
Hypoplasia of penis, Anophthalmia, Small scrotum, Hypospadias, Multicystic kidney dysplasia, Cryp... ORPHA:2052
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplasia of the uterus OMIM:615866
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microphthalmia, Cataract, Optic nerve hypoplasia, Peters anomaly OMIM:614643
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:609441
Oculocerebrorenal Syndrome Of Lowe
Hypercalciuria, Hyperparathyroidism, Cataract, Corneal opacity, Renal insufficiency, Proteinuria,... ORPHA:534
Hallermann-Streiff Syndrome
Cataract, Small for gestational age, Cryptorchidism, Microphthalmia, Iris coloboma OMIM:234100
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Aplasia of the uterus, Vaginal atresia, Uterus didelphys, Septate vagina ORPHA:2237
Dubowitz Syndrome
Hypospadias, Cryptorchidism, Hypoplasia of the iris, Microphthalmia, Megalocornea, Iris coloboma OMIM:223370
Norrie Disease
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Cachexia... ORPHA:649
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Urogenital sinus... OMIM:618820
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Hypospadias, Cryptorchidism, Antecubital pterygium, Horseshoe kidney, Popliteal pt... OMIM:609945
Roberts Syndrome
Cataract, Cryptorchidism, Long penis, Polycystic kidney dysplasia, Microphthalmia, Clitoral hyper... ORPHA:3103
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Cryptorchidism, Bicarbonaturia, Proximal renal tubular ac... OMIM:309000
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia, Ectopia pupillae, Corneal opacity, Lens subluxation ORPHA:85167
Atelis Syndrome 2
Microphthalmia, Developmental cataract, Pulmonic stenosis, Supravalvar pulmonary stenosis OMIM:620185
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Ovarian cyst... ORPHA:90793
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Oculo-Palato-Cerebral Syndrome
Microphthalmia, Cataract, Leukocoria ORPHA:2714
Incontinentia Pigmenti
Cataract, Corneal opacity, Supernumerary nipple, Keratitis, Microphthalmia ORPHA:464
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Iris coloboma, Supernumerary nipple ORPHA:1236
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Trichothiodystrophy
Ventricular septal defect, Cryptorchidism, Bilateral microphthalmos, Developmental cataract, Micr... ORPHA:33364
Oculodentodigital Dysplasia
Neurogenic bladder, Cataract, Microcornea, Atrial septal defect, Microphthalmia OMIM:164200
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Myhre Syndrome
Cataract, Ventricular septal defect, Small for gestational age, Pericardial effusion, Cryptorchid... OMIM:139210
Opitz Gbbb Syndrome
Bifid scrotum, Enlarged ovaries, Hypospadias, Cryptorchidism, Bicornuate uterus, Shawl scrotum ORPHA:2745
Osteoporosis-Pseudoglioma Syndrome
Iris atrophy, Cataract, Ventricular septal defect, Phthisis bulbi, Absent anterior chamber of the... OMIM:259770
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Hypospadias, Hypoplastic labia minora, Splenopancreatic fusion, Hypoplastic labia ... OMIM:269150
Frontonasal Dysplasia 2
Bilateral cryptorchidism, Microphthalmia OMIM:613451
Mowat-Wilson Syndrome
Bifid scrotum, Cataract, Hypospadias, Ventricular septal defect, Supernumerary nipple, Cryptorchi... OMIM:235730
Pallister-Hall Syndrome
Small scrotum, Large for gestational age, Ectopic kidney, Gonadotropin deficiency, Atrial septal ... ORPHA:672
Holoprosencephaly 9
Anophthalmia, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Decreased response to growth... OMIM:610829
Microsporidiosis
Abnormality of the spleen, Lymphadenitis, Abnormal endometrium morphology, Abnormal fallopian tub... ORPHA:2552
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Microphthalmia, Failure to thrive, Corneal opacity OMIM:601812
Acrorenal-Mandibular Syndrome
Unicornuate uterus, Bicornuate uterus, Uterus didelphys OMIM:200980
Fraser Syndrome 1
Anophthalmia, Hypospadias, Corneal opacity, Cryptorchidism, Bilateral microphthalmos, Renal hypop... OMIM:219000
Beaulieu-Boycott-Innes Syndrome
Endometriosis OMIM:613680
Agammaglobulinemia, X-Linked
Lymph node hypoplasia, Epididymitis, Prostatitis OMIM:300755
Degcags Syndrome
Atrial septal defect, Hepatomegaly, Hypospadias, Ventricular septal defect, Small for gestational... OMIM:619488
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... ORPHA:168558
Skin Creases, Congenital Symmetric Circumferential, 2
Small scrotum, Hypospadias, Cryptorchidism, Microcornea, Ureterocele, Microphthalmia OMIM:616734
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Bifid uterus ORPHA:1521
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Clitoral hypertrophy, Bicornuate uterus, Labial hypoplasia ORPHA:140952
Pagod Syndrome
Abnormality of the spleen, Agonadism, Abnormality of the uterus, Ambiguous genitalia, Abnormal mo... ORPHA:991
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... ORPHA:289548
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Failure to thrive, Corneal opacity ORPHA:364577
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Aplasia of the thymus, Hydrocele testis, Hypoplastic nipples, Atrial septal defect... OMIM:620186
Fontaine Progeroid Syndrome
Atrial septal defect, Small scrotum, Absent nipple, Bicuspid aortic valve, Small for gestational ... OMIM:612289
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Overriding aorta, Microphthalmia, Tetralogy of Fallot, Iris coloboma ORPHA:3186
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Hypospadias, Septate vagina, Precocious puberty, Splenomegaly, Cryp... OMIM:270400
Renal Cysts And Diabetes Syndrome
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens OMIM:137920
Linear Nevus Sebaceus Syndrome
Microphthalmia, Adenoma sebaceum, Iris coloboma ORPHA:2612
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Papillary cystadenoma of the epididymis, Absent vas deferens, Bicornuate uterus, Hypospadias ORPHA:93111
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus OMIM:614527
Hydrolethalus Syndrome 1
Hypospadias, Ventricular septal defect, Bifid uterus, Complete atrioventricular canal defect, Adr... OMIM:236680
Woodhouse-Sakati Syndrome
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... OMIM:241080
Currarino Syndrome
Bicornuate uterus, Rectovaginal fistula, Septate vagina OMIM:176450
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Micropenis, Hypospadias, Endometriosis ORPHA:363444
Hallermann-Streiff Syndrome
Microphthalmia, Developmental cataract, Cryptorchidism ORPHA:2108
Focal Dermal Hypoplasia
Ureteral duplication, Anophthalmia, Supernumerary nipple, Ectopia lentis, Cryptorchidism, Horsesh... OMIM:305600
Alg9-Cdg
Bicornuate uterus, Hypoplasia of the ovary ORPHA:79328
Woodhouse-Sakati Syndrome
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Abnormal spermatogenesi... ORPHA:3464
Microphthalmia With Limb Anomalies
Cryptorchidism, Horseshoe kidney, Microphthalmia, Failure to thrive, True anophthalmia ORPHA:1106
Microphthalmia, Syndromic 6
Anophthalmia, Small scrotum, Female hypogonadism, Sclerocornea, Cryptorchidism, Renal hypoplasia,... OMIM:607932
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypospadias, Optic nerve hypoplasia, Unilateral renal agenesis, Cryptorchidism, Bilateral microph... ORPHA:468631
Frontofacionasal Dysplasia
Microcornea, Microphthalmia, Cataract, Iris coloboma OMIM:229400
Monosomy 9P
Hypospadias, Cryptorchidism, Ambiguous genitalia, Microphthalmia, Ureteropelvic junction obstruction ORPHA:261112
Roberts-Sc Phocomelia Syndrome
Cataract, Hypospadias, Enlarged labia minora, Ventricular septal defect, Corneal opacity, Cryptor... OMIM:268300
Acrofacial Dysostosis, Rodríguez Type
Abnormality of the uterus ORPHA:1788
Neu-Laxova Syndrome 1
Cataract, Ventricular septal defect, Bifid uterus, Cryptorchidism, Transposition of the great art... OMIM:256520
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Bicuspid aortic valve, Urinary incontinence, Abnormal pupil morphology, Microcorne... ORPHA:261552
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Cataract, Bicuspid aortic valve, Sutural cataract, Muscular ventricular septal defect, Nuclear pu... OMIM:612474
Waardenburg Syndrome
Abnormal vagina morphology, Abnormality of the uterus ORPHA:3440
Neuroocular Syndrome
Hypoplasia of the fovea, Cataract, Brushfield spots, Lens coloboma, Blue irides, Microcornea, Pet... OMIM:619539
Momo Syndrome
Bilateral microphthalmos, Obesity, Large for gestational age ORPHA:2563
Rhombencephalosynapsis
Abnormality of the uterus ORPHA:59315
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Ventricular septal defect, Corneal opacity, Ventricular septal hypertrophy, Microphthalmia, Failu... OMIM:608670
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Atrial septal defect, Microphthalmia, Anophthalmia, Cataract ORPHA:2526
Exstrophy-Epispadias Complex
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab... ORPHA:322
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Bicuspid aortic valve, Urinary incontinence, Vesicoureteral reflux, Webbed penis, ... ORPHA:261537
Curry-Jones Syndrome
Microphthalmia, Iris coloboma OMIM:601707
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Failure to thrive in infancy, High urinary gonadotropin level, Ectopic kid... ORPHA:99413
Turner Syndrome
Bicuspid aortic valve, Failure to thrive in infancy, High urinary gonadotropin level, Ectopic kid... ORPHA:881
Mosaic Monosomy X
Bicuspid aortic valve, Failure to thrive in infancy, High urinary gonadotropin level, Ectopic kid... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Failure to thrive in infancy, High urinary gonadotropin level, Ectopic kid... ORPHA:99226
Aicardi Syndrome
Precocious puberty, Microphthalmia, Cataract OMIM:304050
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Autosomal Dominant Kenny-Caffey Syndrome
Congenital hypoparathyroidism, Bilateral microphthalmos, Decreased testicular size, Developmental... ORPHA:93325
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
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Aplasia of the uterus ORPHA:3109
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia, Tetralogy of Fallot, Cataract ORPHA:306542
Mowat-Wilson Syndrome
Bifid scrotum, Bicuspid aortic valve, Urinary incontinence, Vesicoureteral reflux, Webbed penis, ... ORPHA:2152
Acrofrontofacionasal Dysostosis 1
Microphthalmia, Iris atrophy OMIM:201180
Monosomy 13Q14
Microphthalmia, Cataract, Iris coloboma ORPHA:1587
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist... OMIM:201750
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Polycoria, Developmental cataract, Hypoplasia of the iris, Microcornea, Ectopia ... OMIM:175780
Pontocerebellar Hypoplasia Type 7
Fatigable weakness of skeletal muscles, Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgen... ORPHA:284339
Okamoto Syndrome
Splenomegaly, Bifid uterus ORPHA:2729
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Asplenia, Bicornuate uterus, Pulmonary lymphangiectasia, Hypospadias OMIM:265380
Witteveen-Kolk Syndrome
Cataract, Hypospadias, Decreased response to growth hormone stimulation test, Unilateral cryptorc... OMIM:613406
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Ventricular septal defect, Optic nerve hypoplasia, Small for gestati... ORPHA:508488
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse OMIM:130050
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Agonad... ORPHA:2232
Acrofacial Dysostosis 1, Nager Type
Bicornuate uterus OMIM:154400
Holoprosencephaly 1
Microphthalmia, Micropenis, Single ventricle OMIM:236100
Holoprosencephaly 7
Microphthalmia, Bilateral microphthalmos, Panhypopituitarism, Iris coloboma OMIM:610828
Ulnar-Mammary Syndrome
Cryptorchidism, Hypoplasia of penis, Abnormality of the uterus ORPHA:3138
Aicardi Syndrome
Precocious puberty, Microphthalmia ORPHA:50
Ulnar-Mammary Syndrome
Small scrotum, Bicornuate uterus, Shawl scrotum, Micropenis, Imperforate hymen OMIM:181450
Treacher Collins Syndrome 1
Cryptorchidism, Bilateral microphthalmos, Abnormal parotid gland morphology, Abnormal heart morph... OMIM:154500
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert... ORPHA:90794
Branchiooculofacial Syndrome
Anophthalmia, Hypospadias, Cataract, Supernumerary nipple, Cryptorchidism, Renal cyst, Microphtha... OMIM:113620
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:572333
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Townes-Brocks Syndrome 1
Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis... OMIM:107480
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia OMIM:271520
Microphthalmia, Syndromic 1
Anophthalmia, Hypospadias, Bicuspid aortic valve, Hydroureter, Cryptorchidism, Renal hypoplasia, ... OMIM:309800
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Cryptorchidism, Micropenis, Unicornuate uterus, Hepatosplenomegaly OMIM:619503
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Renal Agenesis
Absent vas deferens, Aplasia/hypoplasia of the uterus ORPHA:411709
Isolated Arrhinia
Microphthalmia ORPHA:1134
Lacrimoauriculodentodigital Syndrome
Cryptorchidism, Bicornuate uterus ORPHA:2363
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Abnormality of the uterus, Enlarged polycystic ... ORPHA:201
Holoprosencephaly 2
Microphthalmia, Iris coloboma, Anterior pituitary agenesis, Single ventricle OMIM:157170
Peters-Plus Syndrome
Hypoplasia of the vagina, Hypospadias, Cryptorchidism, Hypoplasia of the uterus, Hypoplastic labi... OMIM:261540
Phocomelia, Schinzel Type
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus ORPHA:2879
Vascular Ehlers-Danlos Syndrome
Hypospadias, Cryptorchidism, Cystocele, Uterine rupture, Uterine prolapse ORPHA:286
Cardiac-Urogenital Syndrome
Accessory spleen, Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Aplasia of the uterus... OMIM:618280
Peters Plus Syndrome
Hypoplasia of the uterus, Cryptorchidism, Clitoral hypoplasia, Hypospadias ORPHA:709
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Uterus didelphys, Ambiguous genitalia ORPHA:93271
Cutis Laxa, Autosomal Dominant 1
Uterine prolapse OMIM:123700
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the vagina, Aplasia of the uterus ORPHA:457284
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Hepatosplenomegaly OMIM:274000
Limb-Mammary Syndrome
Aplasia of the uterus, Aplasia of the ovary ORPHA:69085
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Anophthalmia, Ventricular septal defect, Ectopic kidney, Vesicouret... OMIM:164210
Wolf-Hirschhorn Syndrome
Accessory spleen, Hypospadias, Precocious puberty, Cryptorchidism, Aplasia of the uterus OMIM:194190
Cornelia De Lange Syndrome
Hypoplasia of penis, Hypospadias, Cryptorchidism, Hypoplastic labia majora, Abnormality of the ut... ORPHA:199
Classical Ehlers-Danlos Syndrome
Uterine prolapse, Cervical insufficiency ORPHA:287
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Cryptorchidism, Uterine prolapse ORPHA:438213
Coffin-Siris Syndrome 1
Cryptorchidism, Clitoral hypertrophy, Hypospadias, Aplasia of the uterus OMIM:135900
Coffin-Lowry Syndrome
Uterine prolapse OMIM:303600
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Aplasia of the uterus OMIM:276820
Aneurysm-Osteoarthritis Syndrome
Uterine prolapse ORPHA:284984
Loeys-Dietz Syndrome 3
Uterine prolapse, Cystocele OMIM:613795
Pallister-Killian Syndrome
Small scrotum, Hypospadias, Cryptorchidism, Hypoplastic labia majora, Aplasia of the upper vagina... OMIM:601803

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.

Phenotype Allele Zygosity Sex Life Stage
Testis - MPATH pathological process term spermatogenesis defect Mical2em1(IMPC)Tcp HOM Early adult
Testis - MPATH pathological process term spermatogenesis defect Mical2em1(IMPC)Tcp HOM Late adult
Testis - MPATH pathological process term dysplasia Mical2em1(IMPC)Tcp HOM Late adult
Testis - MPATH pathological process term dysplasia Mical2em1(IMPC)Tcp HOM Early adult

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 Mical2.

No publications found that use IMPC mice or data for Mical2.

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
Mical2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Mical2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Mical2tm42371(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Mical2tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Mical2tm42371(L1L2_Pgk_PM) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Mical2em1(IMPC)Tcp Exon Deletion Mice, Tissue

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