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Gene: Mical2 MGI:2444947

Gene Summary

Name:

microtubule associated monooxygenase, calponin and LIM domain containing 2

Synonyms:

4921517J23Rik, 5330438E18Rik, Ebitein1, Micalcl

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
enlarged urinary bladder	Mical2^em1(IMPC)Tcp	HOM	Late adult	0.00
decreased prepulse inhibition	Mical2^em1(IMPC)Tcp	HOM	Early adult	1.88×10^-05
decreased lean body mass	Mical2^em1(IMPC)Tcp	HOM	Late adult	3.64×10^-06
enlarged uterus	Mical2^em1(IMPC)Tcp	HOM	Early adult	0.00
abnormal seminal vesicle morphology	Mical2^em1(IMPC)Tcp	HOM	Late adult	0.00
small kidney	Mical2^em1(IMPC)Tcp	HOM	Late adult	0.00
small heart	Mical2^em1(IMPC)Tcp	HOM	Late adult	0.00
abnormal ovary morphology	Mical2^em1(IMPC)Tcp	HOM	Late adult	0.00
microphthalmia	Mical2^em1(IMPC)Tcp	HOM	Late adult	0.00
long tibia	Mical2^em1(IMPC)Tcp	HOM	Early adult	4.25×10^-05
enlarged lymph nodes	Mical2^em1(IMPC)Tcp	HOM	Early adult	0.00
abnormal skin morphology	Mical2^em1(IMPC)Tcp	HOM	Early adult	0.00

Download data as: TSV XLS

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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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Eye Morphology

Images Slit Lamp

18 Images

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Eye Morphology

Images Ophthalmoscopy

5 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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Histopathology

Images

19 Images

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Electrocardiogram (ECG)

Waveform Image

4 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 Whole Body Lateral Orientation

10 Images

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Histopathology

Images

4 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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Combined SHIRPA and Dysmorphology

Images

4 Images

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X-ray

XRay Images Skull 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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Combined SHIRPA and Dysmorphology

Images

1 Images

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Immunophenotyping

Panel A FCS file(s)

7 Images

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Immunophenotyping

Panel B 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.

Human diseases associated with Mical2 (0 diseases)
Human diseases predicted to be associated with Mical2 (577 diseases)

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	Matching phenotypes	Source
Uterine Anomalies	Bicornuate uterus, Abnormality of the uterus	OMIM:192000
Gombo Syndrome	Abnormal heart morphology, Microphthalmia	OMIM:233270
Hydatidiform Mole	Enlarged uterus	ORPHA:99927
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Mmep Syndrome	Ventricular septal defect, Cryptorchidism, Microphthalmia	ORPHA:3434
Microphthalmia, Isolated 4	Absent testis, Microphthalmia	OMIM:613094
Microphthalmia, Syndromic 12	Hypoplastic left atrium, Cryptorchidism, Anophthalmia, Ventricular septal defect, Microphthalmia,...	OMIM:615524
Endometriosis, Susceptibility To, 1	Endometriosis	OMIM:131200
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Hepatomegaly, Large for gestational age, Microphthalmia	ORPHA:2432
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Biemond Syndrome Type 2	Hypogonadism, Obesity, Hypogonadotropic hypogonadism, Microphthalmia, Hypospadias	ORPHA:141333
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cryptorchidism, Ventricular septal defect, Microphthalmia, Hepatomegaly, Ectopic kidney, Cystic r...	OMIM:613730
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Short femoral neck, Flared metaphysis, Short palm, Aplasia/Hypoplasia of metatarsal bones, Long f...	ORPHA:2502
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Micromelia, Uterus didelphys, Short humerus, Split hand, Aplasia/Hypoplasia of the ulna, Postaxia...	ORPHA:2491
Acromesomelic Dysplasia 3	Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ...	OMIM:609441
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos	OMIM:613703
Satoyoshi Syndrome	Abnormal epiphysis morphology, Abnormality of the uterus, Abnormality of the ovary, Abnormal hip ...	ORPHA:3130
Hypomelia With Mullerian Duct Anomalies	Split hand, Uterus didelphys, Longitudinal vaginal septum, Postaxial hand polydactyly	OMIM:146160
Gonadoblastoma	Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Gon...	ORPHA:206484
Rudiger Syndrome	Micropenis, Bicornuate uterus, Short digit, Ovarian cyst	OMIM:268650
Hand-Foot-Genital Syndrome	Short 5th finger, Shortening of all middle phalanges of the fingers, Short 1st metacarpal, Uterus...	OMIM:140000
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Xk Aprosencephaly Syndrome	Ventricular septal defect, Atrial septal defect, Abnormal external genitalia, Microphthalmia	ORPHA:3469
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Hypogonadism, External genital hypoplasia, Obesity, Cryptorchidism, Microphthalmia	ORPHA:363741
46,Xx Testicular Difference Of Sex Development	Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries	ORPHA:393
Hand-Foot-Genital Syndrome	Short distal phalanx of finger, Shortening of all middle phalanges of the fingers, Synostosis of ...	ORPHA:2438
Matthew-Wood Syndrome	Renal hypoplasia, Annular pancreas, Failure to thrive, Abnormality of the uterus, Horseshoe kidne...	ORPHA:2470
Meckel Syndrome, Type 8	Anophthalmia, Ambiguous genitalia, Microphthalmia, Pericardial effusion, Polycystic kidney dyspla...	OMIM:613885
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Tetragametic Chimerism	Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt...	ORPHA:199310
Spondyloepimetaphyseal Dysplasia, Missouri Type	Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Flattened epiphysis, Short low...	ORPHA:93356
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Microcephaly-Microcornea Syndrome, Seemanova Type	Hypogonadism, Microphthalmia	ORPHA:2528
Adams-Oliver Syndrome 4	Ventricular septal defect, Atrial septal defect, Microphthalmia	OMIM:615297
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Dihydropyrimidine Dehydrogenase Deficiency	Uraciluria, Failure to thrive, Elevated urinary dihydrothymine level, Microphthalmia	OMIM:274270
Nanophthalmos	Microphthalmia	ORPHA:35612
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Hypogonadism, Obesity, Cryptorchidism, Microphthalmia	OMIM:601794
Neurooculocardiogenitourinary Syndrome	Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial s...	OMIM:618652
Omodysplasia 2	Broad femoral neck, Uterus didelphys, Short 1st metacarpal, Rhizomelic arm shortening, Cryptorchi...	OMIM:164745
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Hypogonadism, Decreased testicular size, Abnormality of the ovary	ORPHA:1875
Oculogastrointestinal Neurodevelopmental Syndrome	Vaginal fistula, Bilateral microphthalmos, Horseshoe kidney, Unilateral microphthalmos, Bicuspid ...	OMIM:619318
Spondyloepimetaphyseal Dysplasia, X-Linked	Broad long bones, Broad phalanx, Flat acetabular roof, Short foot, Cone-shaped epiphyses of the p...	OMIM:300106
46,Xy Sex Reversal 3	Clitoral hypertrophy, Gonadal dysgenesis, Ambiguous genitalia, Exaggerated rugosity of the labia ...	OMIM:612965
Microphthalmia/Coloboma 5	Anophthalmia, Bilateral microphthalmos, Microphthalmia	OMIM:611638
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Omphalocele-Cleft Palate Syndrome, Lethal	Bicornuate uterus	OMIM:258320
Satoyoshi Syndrome	Genu valgum, Osteolytic defects of the phalanges of the hand, Brachydactyly, Short metatarsal, Hy...	OMIM:600705
Fryns Microphthalmia Syndrome	Unicornuate uterus, Anophthalmia, Microphthalmia	OMIM:600776
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin...	ORPHA:85188
Microphthalmia/Coloboma 10	Anophthalmia, Microphthalmia	OMIM:616428
46,Xx Ovotesticular Difference Of Sex Development	Small scrotum, Abnormal male internal genitalia morphology, Abnormal morphology of female interna...	ORPHA:2138
Nanophthalmos 4	Microphthalmia	OMIM:615972
Léri-Weill Dyschondrosteosis	Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ...	ORPHA:240
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Pierpont Syndrome	Failure to thrive, Cryptorchidism, Decreased body weight, Microphthalmia, Micropenis	OMIM:602342
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Xeroderma Pigmentosum, Complementation Group G	Small for gestational age, Microphthalmia	OMIM:278780
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Cone-shaped metacarpal epiphyses, Rhizomelia, Metaphyseal cuppin...	OMIM:250220
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit...	ORPHA:168563
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Abnormal uterine cervix morphology, Hydrocolpos, Partial vaginal septum, Uterus didelphys	ORPHA:3411
Warburg Micro Syndrome 1	External genital hypoplasia, Cryptorchidism, Failure to thrive, Microphthalmia	OMIM:600118
Congenital Toxoplasmosis	Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Microphthalmia	ORPHA:858
Weismann-Netter Syndrome	Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm...	ORPHA:3344
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus	ORPHA:2578
2Q24 Microdeletion Syndrome	Small for gestational age, Failure to thrive, Microphthalmia	ORPHA:1617
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Pierpont Syndrome	Small for gestational age, Cryptorchidism, Microphthalmia	ORPHA:487825
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Decreased testicular size, Left ventricular hypertrophy, Microphthalmia...	ORPHA:335
Joubert Syndrome 37	Decreased testicular size, Obesity, Cryptorchidism, Hydronephrosis, Micropenis, Microphthalmia, H...	OMIM:619185
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Hematuria, Microphthalmia	OMIM:120433
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal metatarsal morp...	OMIM:127300
Bresek Syndrome	Renal hypoplasia, Decreased testicular size, Vesicoureteral reflux, Cryptorchidism, Microphthalmi...	ORPHA:85284
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Cofs Syndrome	Hypogonadism, Microphthalmia	ORPHA:1466
Oculocerebrocutaneous Syndrome	Cryptorchidism, Anophthalmia, Microphthalmia	OMIM:164180
Caudal Duplication Anomaly	Uterus didelphys	OMIM:607864
Vaginal Atresia	Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va...	ORPHA:65681
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Unilateral renal agenesis, Renal hypoplasia, Abnormal heart morphology, Cryptorchidism, Patent fo...	OMIM:618494
Seckel Syndrome 2	Hypospadias, Ectopic kidney, Small for gestational age, Microphthalmia	OMIM:606744
Trisomy 13	Abnormal morphology of female internal genitalia, Abnormality of the ureter, Cryptorchidism, Anop...	ORPHA:3378
Seckel Syndrome 7	Hip dysplasia, Clinodactyly of the 5th finger, Hypoplasia of the uterus, Short middle phalanx of ...	OMIM:614851
Microphthalmia, Syndromic 8	Cryptorchidism, Microphthalmia	OMIM:601349
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Hydroureter, Microphthalmia	ORPHA:2547
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular...	ORPHA:1916
Microcephaly 20, Primary, Autosomal Recessive	Renal hypoplasia, Ureteral agenesis, Microphthalmia, Vaginal atresia, Hypoplasia of the uterus, O...	OMIM:617914
Fowler Urethral Sphincter Dysfunction Syndrome	Abnormality of the urethra, Urinary retention, Abnormality of the ovary, Polycystic ovaries, Urin...	ORPHA:2795
Acrofacial Dysostosis, Rodríguez Type	Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Finger ...	ORPHA:1788
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Tibial torsion, Fibular aplasia, Aplasia/hypoplasia of the humeru...	ORPHA:3320
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Ovarian Dysgenesis 2	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism	OMIM:300510
Premature Ovarian Failure 7	Clitoral hypertrophy, Hypoplasia of the uterus, Gonadal dysgenesis	OMIM:612964
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Renal hypoplasia, Ketonuria, Hypertrophic cardiomyopathy, Microphthalmia, Hepatomegaly	OMIM:619053
Cerebrooculofacioskeletal Syndrome 2	Micropenis, Small scrotum, Small for gestational age, Microphthalmia	OMIM:610756
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Cryptorchidism, Anophthalmia, Ventricular septal defect, Microphthalmia, Hypoplasia of penis, Hyp...	ORPHA:77298
Cat-Eye Syndrome	Hydronephrosis, Microphthalmia	ORPHA:195
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ambiguous genitalia, Ventricular septal defect, Microphthalmia	ORPHA:93267
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly	OMIM:246570
Kapur-Toriello Syndrome	Failure to thrive, Tetralogy of Fallot, Ventricular septal defect, Hypoplastic labia majora, Micr...	ORPHA:2328
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary...	OMIM:614841
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Small scrotum, Multiple bladder diverticula, Cryptorchidism, Proteinuria, Atrial septal defect, M...	ORPHA:2728
Amed Syndrome, Digenic	Bone marrow hypocellularity, Hypoplasia of the uterus, Long thumb	OMIM:619151
Acro-Renal-Mandibular Syndrome	Hypoplastic scapulae, Finger syndactyly, Uterus didelphys, Rudimentary fibula, Rudimentary to abs...	ORPHA:958
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Failure to thrive in infancy, Dilated cardiomyopathy, Microphthalmia	OMIM:618805
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Linear Skin Defects With Multiple Congenital Anomalies 2	Tetralogy of Fallot, Ventricular hypertrophy, Atrial septal defect, Microphthalmia	OMIM:300887
Fanconi Anemia, Complementation Group I	Renal hypoplasia, Horseshoe kidney, Decreased response to growth hormone stimulation test, Vesico...	OMIM:609053
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Anophthalmia, Cryptorchidism, Microphthalmia, Micropenis, Optic nerv...	OMIM:610125
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov...	OMIM:277000
46,Xy Sex Reversal 7	Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon...	OMIM:233420
Developmental And Epileptic Encephalopathy 1	Micropenis, Microphthalmia	OMIM:308350
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Focal segmental glomerulosclerosis, Failure to thrive, Decreased pineal volume, Microphthalmia, N...	OMIM:301108
Joubert Syndrome 22	Renal hypoplasia, Microphthalmia	OMIM:615665
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Gillessen-Kaesbach-Nishimura Syndrome	Narrow greater sciatic notch, Ulnar deviation of the hand, Metaphyseal widening, Short long bone,...	OMIM:263210
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
46,Xy Complete Gonadal Dysgenesis	Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Hypogonadotropic hypogonadism, Microphthalmia	ORPHA:1135
Baraitser-Winter Syndrome 1	Aortic valve stenosis, Failure to thrive, Cryptorchidism, Bicuspid aortic valve, Microphthalmia, ...	OMIM:243310
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis...	OMIM:614837
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Splenomegaly, Ventricular septal defect, Atrial septal defect, Mi...	ORPHA:290
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Perrault Syndrome 6	Hypoplasia of the uterus, Streak ovary	OMIM:617565
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Cryptorchidism, Ventricular septal defect, Hydronephrosis, Subvalvular ao...	OMIM:613001
Rere-Related Neurodevelopmental Syndrome	Abnormal heart morphology, Vesicoureteral reflux, Cryptorchidism, Ventricular septal defect, Micr...	ORPHA:494344
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Ovarian Fibroma	Abnormality of the ovary, Ovarian fibroma, Gonadal calcification	ORPHA:314473
Perrault Syndrome 3	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism	OMIM:614129
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Azoospermia, Hypoplasia of the uterus, Bicornuate uterus	OMIM:601076
Pseudotrisomy 13 Syndrome	Renal hypoplasia, Cryptorchidism, Complete atrioventricular canal defect, Ventricular septal defe...	OMIM:264480
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Cryptorchidism, Gonadoblasto...	OMIM:194072
Microphthalmia, Syndromic 9	Hypoplastic left atrium, Renal hypoplasia, Bilateral microphthalmos, Horseshoe kidney, Tetralogy ...	OMIM:601186
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypogonadotropic hypogonadism, Microphthalmia	ORPHA:48431
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cardiomyopathy, Microphthalmia	OMIM:613155
Testicular Agenesis	Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge...	ORPHA:325124
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Hematuria, Microphthalmia	ORPHA:1473
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Fanconi Anemia, Complementation Group S	Ovarian neoplasm, Failure to thrive, Ovarian carcinoma, Microphthalmia	OMIM:617883
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Microphthalmia	ORPHA:1528
Ovarian Fibrothecoma	Abnormality of the ovary, Abnormal endometrium morphology, Gonadal calcification, Ovarian fibroma	ORPHA:314478
Mosaic Trisomy 9	Hypoplastic female external genitalia, Abnormality of the uterus, Horseshoe kidney, Abnormal hear...	ORPHA:99776
Caudal Duplication	Abnormal penis morphology, Uterus didelphys, Cryptorchidism	ORPHA:1756
Fanconi Anemia, Complementation Group F	Renal hypoplasia, Failure to thrive, Microphallus, Decreased response to growth hormone stimulati...	OMIM:603467
Ovarian Dysgenesis 7	Hypoplasia of the uterus	OMIM:618117
Donnai-Barrow Syndrome	Bicornuate uterus, Abnormality of the uterus	ORPHA:2143
Meckel Syndrome, Type 4	Ventricular septal defect, Renal cyst, Atrial septal defect, Microphthalmia, Bile duct proliferation	OMIM:611134
Premature Ovarian Failure 13	Hypoplasia of the uterus	OMIM:617442
Acrorenal-Mandibular Syndrome	Hypoplastic scapulae, Toe syndactyly, Uterus didelphys, Rudimentary fibula, Rudimentary to absent...	OMIM:200980
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia	OMIM:218670
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Genital ulcers, Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Generalized lymphaden...	OMIM:602450
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic ovary, Unilateral renal agenesis, Horseshoe kidney, Aplasia of the ovary, Endometriosis, ...	ORPHA:3109
Spondylometaphyseal Dysplasia, Sedaghatian Type	Cone-shaped epiphysis, Rhizomelic arm shortening, Iliac crest serration, Metaphyseal chondrodyspl...	ORPHA:93317
Cerebrooculofacioskeletal Syndrome 1	Small for gestational age, Cryptorchidism, Failure to thrive, Microphthalmia	OMIM:214150
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventricular septal defect, Microphthalmia	OMIM:602501
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Triangular shaped distal phalanges of the hand, Broad metacarpals, Micromelia, Flared metaphysis,...	OMIM:271665
Müllerian Aplasia And Hyperandrogenism	Abnormality of the ovary, Hypoplasia of the uterus, Brachydactyly, Abnormal vagina morphology	ORPHA:247768
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Warburg Micro Syndrome 4	Small scrotum, Decreased testicular size, Cryptorchidism, Microphthalmia, Micropenis	OMIM:615663
Ovarian Dysgenesis 5	Hypoplasia of the uterus	OMIM:617690
Microphthalmia, Syndromic 16	Anophthalmia, Microphthalmia	OMIM:611038
Marden-Walker Syndrome	Renal hypoplasia, Cryptorchidism, Dextrocardia, Microphthalmia, Micropenis, Hypospadias	OMIM:248700
Microphthalmia, Syndromic 11	Agenesis of pineal gland, Microphthalmia	OMIM:614402
Meckel Syndrome, Type 5	Renal cyst, Bile duct proliferation, Microphthalmia	OMIM:611561
Premature Ovarian Failure 6	Hypoplasia of the uterus, Streak ovary	OMIM:612310
Leydig Cell Hypoplasia	Male hypogonadism, Hypoplasia of the Leydig cells, Abnormal external genitalia, Cryptorchidism, T...	ORPHA:755
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Renal hypoplasia, Patent foramen ovale, Microphthalmia, Lens coloboma, Pulmonic stenosis	OMIM:618914
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney, Elevated circulating growth hormone concentration, ...	ORPHA:90301
Subaortic Stenosis-Short Stature Syndrome	Membranous subvalvular aortic stenosis, Obesity, Subvalvular aortic stenosis, Microphthalmia	ORPHA:3191
46,Xy Sex Reversal 11	Vanishing testis, Aplasia of the uterus, Urogenital sinus anomaly, Gonadal dysgenesis with female...	OMIM:273250
Hydrolethalus	Abnormal fallopian tube morphology, Cryptorchidism, Anophthalmia, Microphthalmia	ORPHA:2189
Renal Hypodysplasia/Aplasia 3	Abnormality of the uterus	OMIM:617805
Premature Ovarian Failure 18	Hypoplasia of the uterus, Hypoplasia of the ovary	OMIM:619203
Kapur-Toriello Syndrome	Cryptorchidism, Ventricular septal defect, Hypoplastic labia majora, Atrial septal defect, Microp...	OMIM:244300
Multiple Benign Circumferential Skin Creases On Limbs	Small scrotum, Abnormal scrotum morphology, Cryptorchidism, Microphthalmia, Hypospadias	ORPHA:2505
Renal Hypodysplasia/Aplasia 1	Vaginal atresia, Talipes equinovarus, Bicornuate uterus	OMIM:191830
46,Xx Sex Reversal 1	Clitoral hypertrophy, Azoospermia, True hermaphroditism, Ovotestis, Bicornuate uterus, Hypospadia...	OMIM:400045
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Short femoral neck, Flared metaphysis, Irregular epiphyses, Small epiphyses, Carpal bone hypoplas...	OMIM:610442
Ovarian Dysgenesis 9	Hypoplasia of the uterus, Hypoplasia of the ovary	OMIM:619665
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia, Situs inversus totalis, Decreased body weight	OMIM:614833
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia	ORPHA:324416
Moebius Syndrome	Micropenis, Decreased testicular size, Hypogonadotropic hypogonadism, Microphthalmia	OMIM:157900
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypogonadotropic hypogonadism, Hypoplasia of the uterus	OMIM:614842
Ulnar-Mammary Syndrome	Small scrotum, Hypoplastic scapulae, Short 5th toe, Absent radius, Short 5th finger, Shawl scrotu...	OMIM:181450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Left ventricular hypertrophy, Microphthalmia	OMIM:613153
Fanconi Anemia, Complementation Group E	Horseshoe kidney, Abnormal heart morphology, Cryptorchidism, Microphthalmia, Ectopic kidney, Smal...	OMIM:600901
Perrault Syndrome 4	Hypoplasia of the uterus, Hypoplasia of the ovary, Bicornuate uterus	OMIM:615300
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Hypogonadism, Small scrotum, Cryptorchidism, Microphthalmia	ORPHA:228390
Normosmic Congenital Hypogonadotropic Hypogonadism	Male hypogonadism, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Cryptorch...	ORPHA:432
Gracile Bone Dysplasia	Micropenis, Aniridia, Failure to thrive, Microphthalmia	OMIM:602361
Osteoporosis-Pseudoglioma Syndrome	Isosexual precocious puberty, Microphthalmia	ORPHA:2788
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
46,Xx Sex Reversal 2	Small scrotum, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, True hermaphroditism, Ovo...	OMIM:278850
Warburg Micro Syndrome 3	Small scrotum, Decreased testicular size, Microphthalmia, Micropenis, Hypoplastic labia minora	OMIM:614222
Burkitt Lymphoma	Abnormality of the ovary	ORPHA:543
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Abnormal heart morphology, Ventricular septal defect, Cryptorchidism, Microphthalmia	ORPHA:404440
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Unilateral microphthalmos, Splenomegaly, Failure to thrive	OMIM:615085
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Warburg Micro Syndrome 2	Small scrotum, Cryptorchidism, Hypoplastic labia majora, Microphthalmia, Micropenis	OMIM:614225
Fanconi Anemia, Complementation Group A	Horseshoe kidney, Abnormal heart morphology, Cryptorchidism, Microphthalmia, Ectopic kidney, Smal...	OMIM:227650
Microphthalmia, Isolated 8	True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:615113
Micro Syndrome	Cryptorchidism, Hydronephrosis, Microphthalmia, Hypoplasia of penis, Hypoplastic labia minora, Cl...	ORPHA:2510
Phocomelia, Schinzel Type	Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the pelvis, Abnormal tibi...	ORPHA:2879
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Cryptorchidism, Microphthalmia, Vaginal atresia, Septo-optic dysplasia	ORPHA:3301
17Q12 Microduplication Syndrome	Atrial septal defect, Microphthalmia	ORPHA:261272
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Schinzel-Giedion Midface Retraction Syndrome	Small scrotum, Hypospadias, Increased density of long bones, Short 1st metacarpal, Short distal p...	OMIM:269150
Complete Androgen Insensitivity Syndrome	Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus...	ORPHA:99429
Sandestig-Stefanova Syndrome	Muscular ventricular septal defect, Perimembranous ventricular septal defect, Small for gestation...	OMIM:618804
Frontonasal Dysplasia 1	Tetralogy of Fallot, Microphthalmia	OMIM:136760
Basel-Vanagaite-Smirin-Yosef Syndrome	Clitoral hypertrophy, Ventricular septal defect, Hydronephrosis, Atrial septal defect, Microphtha...	OMIM:616449
Microphthalmia With Brain And Digit Anomalies	Cryptorchidism, Anophthalmia, Microphthalmia	ORPHA:139471
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos, Abnormal heart morphology, Cryptorchidism, Patent foramen ovale, Ventri...	ORPHA:369891
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Hepatosplenome...	OMIM:274000
Meckel Syndrome 12	Vaginal atresia, Hypoplasia of the uterus, Rocker bottom foot	OMIM:616258
Fryns Syndrome	Multicystic kidney dysplasia, Tetralogy of Fallot, Vesicoureteral reflux, Cryptorchidism, Hydrone...	ORPHA:2059
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Cryptorchidism, Congenital hypoparathyroid...	OMIM:241410
Fanconi Anemia, Complementation Group N	Unilateral renal agenesis, Horseshoe kidney, Ventricular septal defect, Ectopic kidney, Atrial se...	OMIM:610832
Ritscher-Schinzel Syndrome 3	Atrioventricular canal defect, Cryptorchidism, Microphthalmia	OMIM:619135
Spondylo-Ocular Syndrome	Ventricular septal defect, Aplasia/Hypoplasia of the lens, Microphthalmia	ORPHA:85194
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxyisobutyric acid level, Elevated urinary 3-hydroxybutyric acid, Methylma...	OMIM:614105
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Lissencephaly 8	Microphthalmia	OMIM:617255
Meckel Syndrome, Type 2	Renal cyst, Bile duct proliferation, Microphthalmia	OMIM:603194
Lumbar Syndrome	Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u...	ORPHA:83628
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Failure to thrive, Unilateral microphthalmos, Mitral valve prolapse, Macroorchidism, Hypospadias	OMIM:618874
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Histiocytoid cardiomyopathy, Ventricular septal defect, Ovotestis, Chordee,...	OMIM:309801
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Clitoral hypertrophy, Toe syndactyly, 3-4 toe syndactyly, Septate vagina, 3-5 toe syndactyly, 4-5...	OMIM:300707
Chromosome 13Q33-Q34 Deletion Syndrome	Penoscrotal transposition, Bifid scrotum, Cryptorchidism, Left ventricular hypertrophy, Microphth...	OMIM:619148
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Bifid scrotum, Bilateral cryptorchidism, Azoospermia, Aplasia of the ovary,...	ORPHA:90797
Teebi Hypertelorism Syndrome 1	Bicornuate uterus, Small hand, Hydrocele testis, Shawl scrotum	OMIM:145420
Trichothiodystrophy 3, Photosensitive	Microphthalmia, Failure to thrive, Bilateral cryptorchidism	OMIM:616395
Bartsocas-Papas Syndrome 1	Absent external genitalia, Hypoplastic scapulae, Absent thumb, Short thumb, Bilateral cryptorchid...	OMIM:263650
Denys-Drash Syndrome	Ovarian gonadoblastoma, Uterus didelphys, Gonadal dysgenesis, Ambiguous genitalia, female, Septat...	OMIM:194080
Acrofacial Dysostosis 1, Nager Type	Toe syndactyly, Absent thumb, Clinodactyly, Short toe, Radial deviation of finger, Foot oligodact...	OMIM:154400
46,Xy Sex Reversal 4	Gonadal dysgenesis, Hypoplastic labia majora, Hypoplasia of the uterus, Agonadism, Hypergonadotro...	OMIM:154230
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Bifid distal phalanx of toe, Gonadal dysgenesis, Cutaneous finger syndactyly, B...	OMIM:618419
Prune Belly Syndrome	Congenital hip dislocation, Abnormality of the uterus, Decreased testicular size, Cryptorchidism,...	ORPHA:2970
Ulnar-Mammary Syndrome	Short distal phalanx of finger, Abnormality of the uterus, Camptodactyly of finger, Absent hand, ...	ORPHA:3138
Ring Chromosome 10 Syndrome	Cachexia, Microphthalmia	ORPHA:1438
Microphthalmia With Limb Anomalies	Unilateral cryptorchidism, Failure to thrive, Anophthalmia, Microphthalmia	OMIM:206920
Cat Eye Syndrome	Hypoplastic left heart, Total anomalous pulmonary venous return, Horseshoe kidney, Tetralogy of F...	OMIM:115470
Popliteal Pterygium Syndrome	Small scrotum, Bifid scrotum, Cutaneous finger syndactyly, Cryptorchidism, Talipes equinovarus, H...	OMIM:119500
Microphthalmia, Syndromic 3	Optic nerve aplasia, Cryptorchidism, Anophthalmia, Ventricular septal defect, Hypogonadotropic hy...	OMIM:206900
Papillorenal Syndrome	Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5...	OMIM:120330
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Abnormality of the uterus, Pancreatic lymphangiectasis, Hepatosplenomegaly, Cryptorchidism, Splen...	ORPHA:1655
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Short tibia, Uterus didelphys, Preaxial polydactyly, Septate vagina, Fibular hypoplasia, Postaxia...	OMIM:617925
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, Ventricular septal defect, Cryptorchidism, Supernumerary nipple	OMIM:612530
1Q21.1 Microdeletion Syndrome	Failure to thrive, Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Abnormal cardiac septum...	ORPHA:250989
Bardet-Biedl Syndrome 1	Abnormality of the ovary, Decreased testicular size, Hypogonadism, Obesity, Left ventricular hype...	OMIM:209900
Walker-Warburg Syndrome	Hypoplasia of penis, Cryptorchidism, Anophthalmia, Microphthalmia	ORPHA:899
Fanconi Anemia, Complementation Group C	Horseshoe kidney, Cryptorchidism, Ventricular septal defect, Microphthalmia, Ectopic kidney, Smal...	OMIM:227645
Jacobsen Syndrome	Annular pancreas, Failure to thrive, Cryptorchidism, Ventricular septal defect, Macular hypoplasi...	OMIM:147791
3Q29 Microdeletion Syndrome	Failure to thrive, Horseshoe kidney, Subvalvular aortic stenosis, Microphthalmia, Hypospadias	ORPHA:65286
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris	OMIM:604229
Meckel Syndrome 14	Aplasia of the uterus, Ambiguous genitalia, Single ventricle, Microphthalmia, Polycystic kidney d...	OMIM:619879
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Hypoplasia of the uterus, Delayed epiphyseal ossification	ORPHA:785
Martsolf Syndrome 1	Cardiomyopathy, Cryptorchidism, Hypogonadotropic hypogonadism, Microphthalmia, Micropenis	OMIM:212720
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormal metaphysis morphology, Long fibula	ORPHA:935
Pallister-Hall Syndrome	Precocious puberty, Renal hypoplasia, Hydroureter, Decreased response to growth hormone stimulati...	OMIM:146510
Microphthalmia, Lenz Type	Hydroureter, Cryptorchidism, Hydronephrosis, Microphthalmia, Hypospadias	ORPHA:568
Refsum Disease	Renal insufficiency, Splenomegaly, Cardiomyopathy, Microphthalmia	ORPHA:773
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypogonadism, External genital hypoplasia, Cryptorchidism, Anophthalmia, Microphthalmia, Hypoplas...	ORPHA:2250
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Oeis Complex	Congenital hip dislocation, Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguou...	OMIM:258040
Histiocytoid Cardiomyopathy	Failure to thrive, Congenital aphakia, Polycystic ovaries, Cardiomegaly, Renal cyst, Ventricular ...	ORPHA:137675
Congenital Disorder Of Glycosylation, Type Iq	Failure to thrive, Microphthalmia	OMIM:612379
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Townes-Brocks Syndrome 1	Broad thumb, Cryptorchidism, Pseudoepiphyses of second metacarpal, Rectoperineal fistula, Rectova...	OMIM:107480
Ehlers-Danlos Syndrome, Classic-Like, 1	Ambiguous genitalia, female, Bicornuate uterus	OMIM:606408
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic nerve hypoplasia, Cardiomyopathy, Microphthalmia	ORPHA:370959
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Short distal phalanx of finger, Hypoplasia of the uterus, Clinodactyly	OMIM:615866
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Failure to thrive, Horseshoe kidney, Crossed fused renal ectopia, A...	ORPHA:2538
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Cryptorchidi...	OMIM:276820
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Clitoral hypertrophy, Dilated cardiomyopathy, Failure to thrive, Hyper...	ORPHA:2556
Fanconi Anemia, Complementation Group D2	Annular pancreas, Horseshoe kidney, Abnormal heart morphology, Cryptorchidism, Ectopic kidney, Mi...	OMIM:227646
Fanconi Anemia	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Cryptorchidism, Hypospadias, Hi...	ORPHA:84
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Oligosacchariduria, Microphthalmia	ORPHA:163649
Joubert Syndrome 2	Nephronophthisis, Failure to thrive, Renal insufficiency, Renal cyst, Microphthalmia, Hypoplastic...	OMIM:608091
Meckel Syndrome	Multicystic kidney dysplasia, Situs inversus totalis, Cryptorchidism, Anophthalmia, True hermaphr...	ORPHA:564
Stevenson-Carey Syndrome	Atrial septal defect, Microphthalmia	OMIM:611961
Chromosome 17Q12 Duplication Syndrome	Atrial septal defect, Microphthalmia	OMIM:614526
Rhombencephalosynapsis	Finger syndactyly, Abnormality of the uterus, Polydactyly, Short phalanx of finger, Complete dupl...	ORPHA:59315
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Dilated cardiomyopathy, Failure to thrive, Histiocytoid cardiomyopath...	OMIM:300952
Solitary Median Maxillary Central Incisor	Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Anophthalmia, Mi...	OMIM:147250
Manitoba Oculotrichoanal Syndrome	Vaginal atresia, Anophthalmia, Microphthalmia	OMIM:248450
Townes-Brocks Syndrome 2	Bifid uterus, Rectovaginal fistula, Hypospadias	OMIM:617466
Ohdo Syndrome, X-Linked	Small scrotum, Cryptorchidism, Decreased body weight, Shawl scrotum, Microphthalmia, Micropenis	OMIM:300895
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypospadias, Cryptorchidism, Ambiguous genitalia, Abnormal cardiac septum morphology, Microphthal...	ORPHA:2166
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Clitoral hypertrophy, Toe syndactyly, Labial hypoplasia, Hypoplasia of the radius, Clinodactyly o...	ORPHA:140952
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Joubert Syndrome 14	Renal cyst, Ventricular septal defect, Microphthalmia	OMIM:614424
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Long penis, Precocious puberty in males, Decreased testicular size, Ambiguo...	OMIM:202010
Hypoplasminogenemia	Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis, Nephrolithiasis	ORPHA:722
Smith-Lemli-Opitz Syndrome	Small scrotum, Postaxial foot polydactyly, Overlapping toe, Cryptorchidism, Hypospadias, Hip disl...	OMIM:270400
Cerebrooculofacioskeletal Syndrome 4	Failure to thrive in infancy, Abnormal heart morphology, Bilateral microphthalmos, Decreased body...	OMIM:610758
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Decreased testicular size, Cryptorchidism, Polycystic ovaries, Enlarged polycystic ovaries, Ambig...	ORPHA:90796
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Aplasia of the uterus, Septate vagina, Uterus didelphys, Aplasia of the vagina	OMIM:146255
46,Xx Gonadal Dysgenesis	Arachnodactyly, Streak ovary, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis	ORPHA:243
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Estrogen Resistance	Hypoplasia of the uterus, Polycystic ovaries	OMIM:615363
Hydrolethalus Syndrome 1	Accessory spleen, Abnormal vagina morphology, Preaxial hand polydactyly, Upper limb undergrowth, ...	OMIM:236680
Duane-Radial Ray Syndrome	Renal hypoplasia, Optic disc hypoplasia, Horseshoe kidney, Crossed fused renal ectopia, Vesicoure...	OMIM:607323
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris...	ORPHA:2334
Cohen Syndrome	Failure to thrive in infancy, Obesity, Cryptorchidism, Mitral valve prolapse, Ventricular septal ...	ORPHA:193
3P25.3 Microdeletion Syndrome	Ventricular septal defect, Atrial septal defect, Pulmonic stenosis, Microphthalmia	ORPHA:435638
Trisomy 18	Abnormal morphology of female internal genitalia, Cryptorchidism, Ventricular septal defect, Hydr...	ORPHA:3380
Duplication Of Urethra	Clitoral hypertrophy, Uterus didelphys, Bifid scrotum, Septate vagina, Penile hypospadias, Chorde...	ORPHA:237
8Q21.11 Microdeletion Syndrome	Hypoplasia of penis, Cryptorchidism, Microphthalmia	ORPHA:284160
Mosaic Trisomy 1	Renal cortical cysts, Penile hypospadias, Ventricular septal defect, Renal cyst, Microphthalmia, ...	ORPHA:1692
Fanconi Anemia, Complementation Group R	Pelvic kidney, Microphthalmia	OMIM:617244
Congenital Primary Aphakia	Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi...	ORPHA:83461
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Fraser Syndrome 2	Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Hypoplasia of the thymus, Ambiguo...	OMIM:617666
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Absent tonsils, Lymph node hypoplasia	ORPHA:276
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, Unilateral brachydactyly, Bifid uterus, Syndactyly	ORPHA:1521
Mullerian Aplasia And Hyperandrogenism	Aplasia of the uterus, Abnormal external genitalia, Aplasia of the fallopian tube, Aplasia of the...	OMIM:158330
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Monosomy 18P	Microphthalmia	ORPHA:1598
Chromosome 17Q12 Deletion Syndrome	Upper limb undergrowth, Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uteru...	OMIM:614527
Townes-Brocks Syndrome	Renal hypoplasia, Rectovaginal fistula, Abnormal vagina morphology, Abnormality of the uterus, Bi...	ORPHA:857
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Donnai-Barrow Syndrome	Short sternum, Bicornuate uterus	OMIM:222448
Fryns Syndrome	Ectopic pancreatic tissue, Bifid scrotum, Large for gestational age, Cryptorchidism, Ventricular ...	OMIM:229850
Basel-Vanagaite-Smirin-Yosef Syndrome	Cholelithiasis, Male urethral meatus stenosis, Ventricular septal defect, Hydronephrosis, Atrial ...	ORPHA:464738
Chromosome 8Q21.11 Deletion Syndrome	Micropenis, Cryptorchidism, Microphthalmia	OMIM:614230
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Temtamy Syndrome	Microphthalmia	OMIM:218340
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
3Q29 Microduplication Syndrome	Aniridia, Obesity, Ventricular septal defect, Microphthalmia	ORPHA:251038
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Hypospadias, Anophthalmia, Microphthalmia	OMIM:615877
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Abnormally large globe, Microphthalmia	OMIM:615249
Oculofaciocardiodental Syndrome	Abnormal cardiac septum morphology, Mitral valve prolapse, Microphthalmia	ORPHA:2712
Heart And Brain Malformation Syndrome	Ventricular septal defect, Microphthalmia	OMIM:616920
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Small scrotum, Clitoral hypertrophy, Carpal synostosis, Cryptorchidism, Ovarian cyst, Polycystic ...	OMIM:201750
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Microphthalmia/Coloboma 12	Optic nerve aplasia, Vesicoureteral reflux, Microphthalmia	OMIM:120200
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Renal hypoplasia, Cryptorchidism, Renal cyst, Ambiguous genitalia, Microphthalmia	OMIM:616300
Adams-Oliver Syndrome	Tetralogy of Fallot, Abnormal pulmonary valve morphology, Failure to thrive, Microphthalmia	ORPHA:974
Genitourinary And/Or Brain Malformation Syndrome	Clitoral hypertrophy, Uterus didelphys, Gonadal dysgenesis, Streak ovary, Cryptorchidism, Chordee...	OMIM:618820
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Hypospadias, Renal hypoplasia, Horseshoe kidney, Tetralogy of Fallot, Atrioventricular canal defe...	ORPHA:508498
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Dilated cardiomyopathy, Transposition of the great arteries, Atrial septal defect, Microphthalmia...	OMIM:253800
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Fetal Alcohol Syndrome	Atrial septal defect, Microphthalmia	ORPHA:1915
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Renal hypoplasia, Aplasia of the uterus, Microphthalmia, Micropenis	OMIM:614083
Alg9-Cdg	Rhizomelia, Flared metaphysis, Talipes equinovarus, Narrow greater sciatic notch, Hypoplasia of t...	ORPHA:79328
Anterior Segment Dysgenesis 2	Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia	OMIM:610256
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis	OMIM:266810
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia, Supernumerary nipple	OMIM:620098
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia, Decreased body weight	OMIM:617306
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Unilateral renal agenesis, Elevated circulating luteinizing hormone level, Abnormal male external...	ORPHA:95699
Vacterl With Hydrocephalus	Abnormal fallopian tube morphology, Cryptorchidism, Anophthalmia, Microphthalmia	ORPHA:3412
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Bosma Arhinia Microphthalmia Syndrome	Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplastic labia majora, Microphthalmia, Micropen...	OMIM:603457
Galloway-Mowat Syndrome 3	Failure to thrive, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis, Glom...	OMIM:617729
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Abnormal heart morphology, Microphthalmia	OMIM:618571
Adams-Oliver Syndrome 1	Aortic valve stenosis, Imperforate hymen, Hypoplastic left heart, Supernumerary nipple, Tetralogy...	OMIM:100300
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
22Q11.2 Deletion Syndrome	Cryptorchidism, Ventricular septal defect, Atrial septal defect, Microphthalmia, Hypoparathyroidi...	ORPHA:567
Holoprosencephaly	Failure to thrive in infancy, Panhypopituitarism, Tetralogy of Fallot, Abnormal pulmonary valve m...	ORPHA:2162
Microphthalmia, Syndromic 2	Aortic valve stenosis, Septate vagina, Cryptorchidism, Anophthalmia, Decreased body weight, Ventr...	OMIM:300166
Neu-Laxova Syndrome 1	Toe syndactyly, Finger syndactyly, Clinodactyly, Micromelia, Radial deviation of finger, Cryptorc...	OMIM:256520
Teebi-Shaltout Syndrome	Aortic valve stenosis, Ureteral stenosis, Horseshoe kidney, Ventricular septal defect, Hydronephr...	OMIM:272950
Trichothiodystrophy 4, Nonphotosensitive	Ventricular septal defect, Microphthalmia	OMIM:234050
Meacham Syndrome	Accessory spleen, Septate vagina, Male pseudohermaphroditism, Bicornuate uterus, Blind vagina	OMIM:608978
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Abnormal cardiac septum morphology, Microphthalmia	ORPHA:1352
Purine Nucleoside Phosphorylase Deficiency	Lymph node hypoplasia, Splenomegaly	OMIM:613179
Otodental Syndrome	Lens coloboma, Microphthalmia	ORPHA:2791
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Overlapping toe, Endometriosis, Camptodactyly, Micropenis, Hypospadias	ORPHA:363444
Chromosome 13Q14 Deletion Syndrome	Supernumerary nipple, Cryptorchidism, Patent foramen ovale, Ventricular septal defect, Microphtha...	OMIM:613884
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Phace Association	Microphthalmia, Optic nerve hypoplasia, Ventricular septal defect, Lingual thyroid	OMIM:606519
X-Linked Dominant Chondrodysplasia Punctata	Hydronephrosis, Microphthalmia	ORPHA:35173
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Hypoplasia of the iris, Horseshoe kidney, Ventricular septal defect...	ORPHA:2092
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Trichothiodystrophy 1, Photosensitive	Hypogonadism, Small for gestational age, Microphthalmia	OMIM:601675
2Q31.1 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect, Cryptorchidism, Microphthalmia	ORPHA:251014
Rodrigues Blindness	Microphthalmia	OMIM:268320
Frontonasal Dysplasia 2	Microphthalmia, Bilateral cryptorchidism	OMIM:613451
Cousin Syndrome	Hydronephrosis, Ambiguous genitalia, female, Ambiguous genitalia, male, Microphthalmia	OMIM:260660
Galloway-Mowat Syndrome 1	Focal segmental glomerulosclerosis, Hypoplasia of the iris, Renal insufficiency, Proteinuria, Dif...	OMIM:251300
Mosaic Variegated Aneuploidy Syndrome	Multicystic kidney dysplasia, Vaginal neoplasm, Ambiguous genitalia, Subvalvular aortic stenosis,...	ORPHA:1052
Frontofacionasal Dysplasia	Microphthalmia	ORPHA:1791
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Annular pancreas, Vesicoureteral reflux, Cryptorchidism, Patent foramen ovale, Ventricular septal...	OMIM:616975
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Horseshoe kidney, Tetralogy of Fallot, Crossed fused renal ectopia, Vesico...	ORPHA:959
Chondrodysplasia Punctata 2, X-Linked Dominant	Hydronephrosis, Failure to thrive, Microphthalmia	OMIM:302960
Garg-Mishra Progeroid Syndrome	Microphthalmia	OMIM:620601
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Treacher-Collins Syndrome	Small scrotum, Failure to thrive, Cryptorchidism, Hypoplasia of the thymus, Microphthalmia, Hypop...	ORPHA:861
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Renal hypoplasia, Cryptorchidism, Patent foramen ovale, Atrial septal defect, Microphthalmia	OMIM:620005
Roberts-Sc Phocomelia Syndrome	Finger aplasia, Accessory spleen, Clitoral hypertrophy, Long penis, Absent thumb, Clinodactyly, R...	OMIM:268300
Pelvis-Shoulder Dysplasia	Microphthalmia	OMIM:169550
Mend Syndrome	Aortic valve stenosis, Failure to thrive, Abnormal heart morphology, Cryptorchidism, Microphthalmia	ORPHA:401973
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Basal Cell Nevus Syndrome 1	Cardiac rhabdomyoma, Cardiac fibroma, Ovarian carcinoma, Ovarian fibroma, Microphthalmia	OMIM:109400
Stromme Syndrome	Hydronephrosis, Optic nerve hypoplasia, Bilateral renal hypoplasia, Microphthalmia	OMIM:243605
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Male hypogonadism, Precocious puberty in females, Bifid scrotum, Bilateral cryptorchidism, Ovaria...	ORPHA:90793
Meckel Syndrome, Type 1	Abnormality of the uterus, Abnormality of the ureter, External genital hypoplasia, Ambiguous geni...	OMIM:249000
Skin Creases, Congenital Symmetric Circumferential, 1	Hypoplastic nipples, Microphthalmia	OMIM:156610
Tetraamelia Syndrome 1	Absent external genitalia, Adrenal gland agenesis, Urethral atresia, Microphthalmia, Vaginal atre...	OMIM:273395
Yunis-Varon Syndrome	Clitoral hypertrophy, Bilateral microphthalmos, Cardiomyopathy, Tetralogy of Fallot, Renal artery...	ORPHA:3472
Blepharophimosis, Ptosis, And Epicanthus Inversus	Increased circulating gonadotropin level, Hypoplasia of the uterus, Microphthalmia	OMIM:110100
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Vaginal atresia, Aplasia of the uterus, Septate vagina, Uterus didelphys	ORPHA:2237
Pelvis-Shoulder Dysplasia	Hydronephrosis, Ambiguous genitalia, Bilateral microphthalmos	ORPHA:2839
Fraser Syndrome 1	Clitoral hypertrophy, Cutaneous finger syndactyly, Wide pubic symphysis, Cryptorchidism, Aplasia/...	OMIM:219000
Renpenning Syndrome 1	Renal hypoplasia, Tetralogy of Fallot, Decreased testicular size, Situs inversus totalis, Phimosi...	OMIM:309500
Monosomy 9Q22.3	Ovarian fibroma, Large for gestational age, Cardiac fibroma, Microphthalmia	ORPHA:77301
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Total anomalous pulmonary venous return, Bifid scrotum, Horseshoe kidney, Cryptorchidism, Atrial ...	OMIM:609945
Pallister-Hall Syndrome	Small scrotum, Hydrometrocolpos, Hypopituitarism, Cryptorchidism, Ventricular septal defect, Atri...	ORPHA:672
Nasopalpebral Lipoma-Coloboma Syndrome	Bilateral microphthalmos, Microphthalmia	ORPHA:2399
Cockayne Syndrome B	Failure to thrive, Hypoplasia of the iris, Renal insufficiency, Splenomegaly, Cryptorchidism, Pro...	OMIM:133540
Charge Syndrome	Bifid scrotum, Abnormal morphology of female internal genitalia, Horseshoe kidney, Tetralogy of F...	ORPHA:138
Charge Syndrome	Unilateral microphthalmos, Cryptorchidism, Anophthalmia, Ventricular septal defect, Overriding ao...	OMIM:214800
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Degcags Syndrome	Chronic kidney disease, Renal hypoplasia, Failure to thrive, Bilateral renal hypoplasia, Hepatosp...	OMIM:619488
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Opitz Gbbb Syndrome	Bifid scrotum, Cryptorchidism, Enlarged ovaries, Shawl scrotum, Bicornuate uterus, Hypospadias	ORPHA:2745
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cryptorchidism, Microphthalmia, Buphthalmos, Hypoplastic male external genitalia, Optic nerve hyp...	OMIM:236670
Xeroderma Pigmentosum, Complementation Group B	Hypogonadism, Microphthalmia	OMIM:610651
Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	ORPHA:2717
Cockayne Syndrome Type 3	Unilateral renal agenesis, Renal hypoplasia, Hydroureter, Urinary retention, Cardiomyopathy, Rena...	ORPHA:90324
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Abnormality of the Leydig cells, Abnormal vagina morp...	ORPHA:168558
Phace Syndrome	Ectopic thyroid, Abnormal heart morphology, Tetralogy of Fallot, Abnormal cardiac septum morpholo...	ORPHA:42775
Lacrimoauriculodentodigital Syndrome	Toe syndactyly, Absent thumb, Finger syndactyly, Clinodactyly, Short thumb, Cryptorchidism, Abnor...	ORPHA:2363
Ehlers-Danlos Syndrome, Vascular Type	Foot acroosteolysis, Uterine rupture, Cystocele, Metacarpophalangeal joint hyperextensibility, Cr...	OMIM:130050
Microsporidiosis	Lymphadenitis, Abnormality of the spleen, Abnormal endometrium morphology, Prostatitis, Abnormal ...	ORPHA:2552
Microphthalmia/Coloboma 9	Microphthalmia	OMIM:615145
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Abnormality of the Leydig cells, Abnormal vagina morp...	ORPHA:289548
Dubowitz Syndrome	Hypoplasia of the iris, Hypospadias, Cryptorchidism, Microphthalmia	OMIM:223370
Mycophenolate Mofetil Embryopathy	Ectopic kidney, Ventricular septal defect, Microphthalmia	ORPHA:268249
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Incontinentia Pigmenti	Supernumerary nipple, Breast aplasia, Breast hypoplasia, Hypoplasia of the fovea, Hypoplastic nip...	OMIM:308300
Fraser Syndrome	Small scrotum, Toe syndactyly, Abnormal vagina morphology, Finger syndactyly, Female pseudohermap...	ORPHA:2052
Oculodentodigital Dysplasia, Autosomal Recessive	Failure to thrive, Microphthalmia	OMIM:257850
Agammaglobulinemia, X-Linked	Prostatitis, Lymph node hypoplasia, Epididymitis	OMIM:300755
Fontaine Progeroid Syndrome	Small scrotum, Absent nipple, Failure to thrive, Abnormal heart morphology, Cryptorchidism, Bicus...	OMIM:612289
Beaulieu-Boycott-Innes Syndrome	Endometriosis	OMIM:613680
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Hallermann-Streiff Syndrome	Small for gestational age, Cryptorchidism, Microphthalmia	OMIM:234100
Pagod Syndrome	Abnormality of the uterus, Abnormal morphology of female internal genitalia, Abnormality of the s...	ORPHA:991
Myhre Syndrome	Aortic valve stenosis, Obesity, Cryptorchidism, Ventricular septal defect, Atrial septal defect, ...	OMIM:139210
Rothmund-Thomson Syndrome, Type 2	Annular pancreas, Hypogonadism, Cryptorchidism, Microphthalmia, Small for gestational age	OMIM:268400
Pierson Syndrome	Hypoplasia of the iris, Stage 5 chronic kidney disease, Rieger anomaly, Proteinuria, Hypoplasia o...	OMIM:609049
Microphthalmia With Limb Anomalies	Failure to thrive, Horseshoe kidney, True anophthalmia, Cryptorchidism, Microphthalmia	ORPHA:1106
Steinfeld Syndrome	Abnormal heart morphology, Absent gallbladder, Microphthalmia	OMIM:184705
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Uterus didelphys, Abnormal pelvis bone ossification, Preaxial hand polydactyly, Micromelia, Crypt...	ORPHA:93271
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Unilateral renal agenesis, Hypospadias, Microphallus, Bilateral microphthalmos, Cryptorchidism, S...	ORPHA:468631
Frontorhiny	Hypopituitarism, Microphthalmia	ORPHA:391474
Roberts Syndrome	Clitoral hypertrophy, Long penis, Cryptorchidism, Microphthalmia, Polycystic kidney dysplasia	ORPHA:3103
Oculocerebrorenal Syndrome Of Lowe	Aminoaciduria, Hyperparathyroidism, Nephrocalcinosis, Oligosacchariduria, Failure to thrive, Azoo...	ORPHA:534
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Aplasia/hypoplasia of the uterus, Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Apla...	ORPHA:2232
Monosomy 9P	Ureteropelvic junction obstruction, Cryptorchidism, Ambiguous genitalia, Microphthalmia, Hypospadias	ORPHA:261112
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Patent foramen ovale, Aplasia of the thymus, Hypoplastic nipples, Atrial septal de...	OMIM:620186
Proboscis Lateralis	Unilateral renal agenesis, Duplication of renal pelvis, Ureteral agenesis, External genital hypop...	ORPHA:141099
Skin Creases, Congenital Symmetric Circumferential, 2	Small scrotum, Ureterocele, Cryptorchidism, Microphthalmia, Hypospadias	OMIM:616734
Woodhouse-Sakati Syndrome	Decreased testicular size, Hypogonadotropic hypogonadism, Micropenis, Hypoplasia of the uterus, H...	OMIM:241080
Currarino Syndrome	Septate vagina, Rectovaginal fistula, Bicornuate uterus	OMIM:176450
Norrie Disease	Hypoplasia of the iris, Buphthalmos, Microphthalmia	OMIM:310600
Cockayne Syndrome	Unilateral renal agenesis, Renal hypoplasia, Renal insufficiency, Splenomegaly, Cryptorchidism, P...	ORPHA:191
Peters-Plus Syndrome	Rhizomelia, Abnormal pelvic girdle bone morphology, Square pelvis bone, Short toe, Cryptorchidism...	OMIM:261540
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Absent vas deferens, Papillary cystadenoma of the epididymis, Hypospadias, Bicornuate uterus	ORPHA:93111
Okamoto Syndrome	Bifid uterus, Hip dysplasia, Splenomegaly, Polydactyly	ORPHA:2729
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Supernumerary nipple	ORPHA:1236
Renal Cysts And Diabetes Syndrome	Atretic vas deferens, Epididymal cyst, Hypoplasia of the uterus, Bicornuate uterus, Hypospadias	OMIM:137920
Woodhouse-Sakati Syndrome	Hypogonadism, Decreased testicular size, Streak ovary, Abnormal spermatogenesis, Micropenis, Hypo...	ORPHA:3464
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Lymphedema-Distichiasis Syndrome	Tetralogy of Fallot, Ventricular septal defect, Microphthalmia	OMIM:153400
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Small for gestational age, Microphthalmia	OMIM:127000
Momo Syndrome	Obesity, Large for gestational age, Bilateral microphthalmos	ORPHA:2563
Persistent Hyperplastic Primary Vitreous	Phthisis bulbi, Macular hypoplasia, Buphthalmos, Microphthalmia	ORPHA:91495
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Atelis Syndrome 2	Supravalvar pulmonary stenosis, Pulmonic stenosis, Microphthalmia	OMIM:620185
Premature Aging Syndrome, Penttinen Type	Failure to thrive, Microphthalmia	OMIM:601812
Waardenburg Syndrome	Abnormal vagina morphology, Abnormality of the uterus	ORPHA:3440
Trichothiodystrophy	Cardiomyopathy, Bilateral microphthalmos, Gonadal dysgenesis, Cryptorchidism, Ventricular septal ...	ORPHA:33364
Holoprosencephaly 9	Anterior pituitary agenesis, Decreased response to growth hormone stimulation test, Panhypopituit...	OMIM:610829
Lowe Oculocerebrorenal Syndrome	Aminoaciduria, Failure to thrive, Low-molecular-weight proteinuria, Stage 5 chronic kidney diseas...	OMIM:309000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia	OMIM:613150
Exstrophy-Epispadias Complex	Penoscrotal transposition, Bifid scrotum, Cystocele, Cryptorchidism, Bifid penis, Bifid uterus, A...	ORPHA:322
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Aplasia of the vagina, Postaxial polydactyly, Aplasia of the uterus, Hip dysplasia,...	ORPHA:457284
Incontinentia Pigmenti	Microphthalmia, Supernumerary nipple	ORPHA:464
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Phthisis bulbi, Buphthalmos, Microphthalmia	OMIM:221900
Hallermann-Streiff Syndrome	Cryptorchidism, Microphthalmia	ORPHA:2108
Oculodentodigital Dysplasia	Neurogenic bladder, Atrial septal defect, Microphthalmia	OMIM:164200
Turner Syndrome Due To Structural X Chromosome Anomalies	Hypoplastic left heart, Horseshoe kidney, Abnormality of the ovary, Failure to thrive in infancy,...	ORPHA:99413
Turner Syndrome	Hypoplastic left heart, Horseshoe kidney, Abnormality of the ovary, Failure to thrive in infancy,...	ORPHA:881
Mosaic Monosomy X	Hypoplastic left heart, Horseshoe kidney, Abnormality of the ovary, Failure to thrive in infancy,...	ORPHA:99228
Monosomy X	Hypoplastic left heart, Horseshoe kidney, Abnormality of the ovary, Failure to thrive in infancy,...	ORPHA:99226
Limb-Mammary Syndrome	Toe syndactyly, Oligodactyly, Aplasia of the ovary, Aplasia of the uterus, Clinodactyly of the 5t...	ORPHA:69085
Focal Dermal Hypoplasia	Supernumerary nipple, Horseshoe kidney, Bifid ureter, Aniridia, Cryptorchidism, Anophthalmia, Hyd...	OMIM:305600
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Failure to thrive, Microphthalmia	ORPHA:364577
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Slender finger, Internally rotated shoulders, Hyperextensibility of the finger joints, Hepatosple...	OMIM:619503
Loeys-Dietz Syndrome	Arachnodactyly, Uterine rupture, Camptodactyly of finger	ORPHA:60030
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Tetralogy of Fallot, Overriding aorta, Absent gallbladder, Microphthalmia	ORPHA:3186
Peters Plus Syndrome	Rhizomelia, Toe syndactyly, Short toe, Micromelia, Cryptorchidism, Brachydactyly, Clinodactyly of...	ORPHA:709
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Clitoral hypertrophy, Long penis, Precocious puberty in females, Premature fusion of the radial e...	ORPHA:90794
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Optic nerve hypoplasia, Microphthalmia	OMIM:614643
Treacher Collins Syndrome 1	Abnormal heart morphology, Bilateral microphthalmos, Cryptorchidism, Abnormal parotid gland morph...	OMIM:154500
Pontocerebellar Hypoplasia Type 7	Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Fatigable weakness of skeletal muscles, C...	ORPHA:284339
Microphthalmia, Syndromic 6	Small scrotum, Renal hypoplasia, Failure to thrive, Cryptorchidism, Anophthalmia, Microphthalmia,...	OMIM:607932
Cornelia De Lange Syndrome	Small hand, Toe syndactyly, Short 1st metacarpal, Micromelia, Abnormality of the uterus, Oligodac...	ORPHA:199
Oculoauricular Syndrome	Macular hypoplasia, Microphakia, Phthisis bulbi, Microphthalmia	OMIM:612109
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
8Q24.3 Microdeletion Syndrome	Ectopic posterior pituitary, Unilateral renal agenesis, Bilateral renal hypoplasia, Bilateral mic...	ORPHA:508488
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Asplenia, Bicornuate uterus, Hypospadias, Pulmonary lymphangiectasia	OMIM:265380
Wolf-Hirschhorn Syndrome	Precocious puberty, Accessory spleen, Pseudoepiphyses of the metacarpals, Short thumb, Preaxial h...	OMIM:194190
Mowat-Wilson Syndrome	Bifid scrotum, Supernumerary nipple, Abnormal heart morphology, Cryptorchidism, Ventricular septa...	OMIM:235730
Linear Nevus Sebaceus Syndrome	Microphthalmia, Adenoma sebaceum	ORPHA:2612
Holoprosencephaly 1	Micropenis, Single ventricle, Microphthalmia	OMIM:236100
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Renal Agenesis	Talipes equinovarus, Absent vas deferens, Aplasia/hypoplasia of the uterus	ORPHA:411709
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Ventricular septal hypertrophy, Ventricular septal defect, Failure to thrive, Microphthalmia	OMIM:608670
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Microphthalmia	OMIM:608940
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Aortic valve stenosis, Multicystic kidney dysplasia, Cryptorchidism, Bicuspid aortic valve, Chord...	ORPHA:261537
Aicardi Syndrome	Precocious puberty, Microphthalmia	ORPHA:50
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Atrial septal defect, Anophthalmia, Microphthalmia	ORPHA:2526
Curry-Jones Syndrome	Microphthalmia	OMIM:601707
Cardiac-Urogenital Syndrome	Accessory spleen, Bifid scrotum, Cryptorchidism, 2-3 toe syndactyly, Aplasia of the uterus, Ambig...	OMIM:618280
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Failure to thrive, Muscular ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve,...	OMIM:612474
Mowat-Wilson Syndrome	Aortic valve stenosis, Multicystic kidney dysplasia, Cryptorchidism, Decreased body weight, Bicus...	ORPHA:2152
Aicardi Syndrome	Precocious puberty, Microphthalmia	OMIM:304050
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aortic valve stenosis, Multicystic kidney dysplasia, Cryptorchidism, Ventricular septal defect, B...	ORPHA:261552
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Polycystic ovaries	ORPHA:572333
Witteveen-Kolk Syndrome	Male urethral meatus stenosis, Microphallus, Decreased response to growth hormone stimulation tes...	OMIM:613406
Norrie Disease	Failure to thrive, Uterine rupture, Hypoplasia of the iris, Cryptorchidism, Cachexia, Aplasia/Hyp...	ORPHA:649
Traboulsi Syndrome	Homocystinuria, Microphthalmia	OMIM:601552
Coffin-Lowry Syndrome	Bifid sternum, Uterine prolapse, Tapered finger, Drumstick terminal phalanges, Narrow iliac wing,...	OMIM:303600
Cowden Syndrome	Abnormal penis morphology, Abnormality of the uterus, Endometrial carcinoma, Enlarged polycystic ...	ORPHA:201
Osteoporosis-Pseudoglioma Syndrome	Phthisis bulbi, Ventricular septal defect, Microphthalmia	OMIM:259770
Holoprosencephaly 7	Panhypopituitarism, Bilateral microphthalmos, Microphthalmia	OMIM:610828
Autosomal Dominant Kenny-Caffey Syndrome	Decreased testicular size, Congenital hypoparathyroidism, Bilateral microphthalmos	ORPHA:93325
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina	OMIM:271520
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Oculo-Palato-Cerebral Syndrome	Microphthalmia	ORPHA:2714
Coffin-Siris Syndrome 1	Clitoral hypertrophy, Prominent fingertip pads, Sandal gap, Short distal phalanx of the 5th toe, ...	OMIM:135900
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Vascular Ehlers-Danlos Syndrome	Congenital hip dislocation, Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Talipes...	ORPHA:286
Branchiooculofacial Syndrome	Supernumerary nipple, Cryptorchidism, Anophthalmia, Renal cyst, Microphthalmia, Hypospadias	OMIM:113620
Hermansky-Pudlak Syndrome 6	Perineal fistula, Endometriosis	OMIM:614075
Classical Ehlers-Danlos Syndrome	Uterine prolapse, Talipes equinovarus, Phalangeal dislocation, Shoulder dislocation, Dislocated r...	ORPHA:287
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Tetralogy of Fallot, Microphthalmia	ORPHA:306542
Cutis Laxa, Autosomal Dominant 1	Uterine prolapse	OMIM:123700
Microphthalmia, Syndromic 1	Renal hypoplasia, Hydroureter, Anophthalmia, Cryptorchidism, Bicuspid aortic valve, Microphthalmi...	OMIM:309800
Neuroocular Syndrome 1	Hypoplasia of the fovea, Lens coloboma, Patent foramen ovale, Microphthalmia	OMIM:619539
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Hypoplasia of the retina, Microphthalmia	OMIM:253280
Monosomy 13Q14	Microphthalmia	ORPHA:1587
Aneurysm-Osteoarthritis Syndrome	Camptodactyly of finger, Uterine prolapse, Arachnodactyly, Osteoarthritis of the small joints of ...	ORPHA:284984
Frontofacionasal Dysplasia	Microphthalmia	OMIM:229400
Holoprosencephaly 2	Anterior pituitary agenesis, Single ventricle, Microphthalmia	OMIM:157170
Pallister-Killian Syndrome	Small scrotum, Rhizomelia, Small hand, Postaxial foot polydactyly, Short toe, Camptodactyly of 2n...	OMIM:601803
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Precocious puberty, Cryptorchidism, Uterine prolapse, Hip dysplasia	ORPHA:438213
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Tetralogy of Fallot, Vesicoureteral reflux, Anophthalmia, Ureterope...	OMIM:164210
Loeys-Dietz Syndrome 3	Cystocele, Uterine prolapse, Arachnodactyly, Talipes equinovarus, Camptodactyly, Protrusio acetabuli	OMIM:613795
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Microphthalmia	OMIM:175780

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	Life Stage
Testis - MPATH pathological process term dysplasia	Mical2^em1(IMPC)Tcp	HOM	Early adult
Testis - MPATH pathological process term spermatogenesis defect	Mical2^em1(IMPC)Tcp	HOM	Late adult
Testis - MPATH pathological process term spermatogenesis defect	Mical2^em1(IMPC)Tcp	HOM	Early adult
Testis - MPATH pathological process term dysplasia	Mical2^em1(IMPC)Tcp	HOM	Late 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.

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MGI Allele	Allele Type	Produced
Mical2^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Mical2^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Mical2^{tm2a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Mical2^{tm42371(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Mical2^{tm42371(L1L2_Pgk_PM)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Mical2^em1(IMPC)Tcp	Exon Deletion	Mice, Tissue

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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