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

Images

19 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 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

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 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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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 Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Histopathology

Images

4 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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Electrocardiogram (ECG)

Waveform Image

4 Images

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Combined SHIRPA and Dysmorphology

Images

4 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	Microphthalmia, Abnormal heart morphology	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	Microphthalmia, Ventricular septal defect, Cryptorchidism	ORPHA:3434
Microphthalmia, Isolated 4	Microphthalmia, Absent testis	OMIM:613094
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia, Hypoplastic left atrium, Bicornuate uterus, Cryptorchidism, Ventric...	OMIM:615524
Endometriosis, Susceptibility To, 1	Endometriosis	OMIM:131200
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Large for gestational age, Microphthalmia, Hepatomegaly	ORPHA:2432
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Biemond Syndrome Type 2	Microphthalmia, Hypospadias, Obesity, Hypogonadism, Hypogonadotropic hypogonadism	ORPHA:141333
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Hepatomegaly, Ectopic kidney, Cryptorchidism, Ventricular septal defect, Cystic r...	OMIM:613730
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Aplasia/Hypoplasia of metatarsal bones, Flared metaphysis, Narrow iliac wing, Short long bone, Wi...	ORPHA:2502
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Hypoplasia of penis, Split hand, Postaxial hand polydactyly, Micromelia, Uterus didelphys, Short ...	ORPHA:2491
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto...	OMIM:609441
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Satoyoshi Syndrome	Abnormal metaphysis morphology, Abnormal femur morphology, Abnormal hip bone morphology, Hypoplas...	ORPHA:3130
Hypomelia With Mullerian Duct Anomalies	Uterus didelphys, Split hand, Longitudinal vaginal septum, Postaxial hand polydactyly	OMIM:146160
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Abnormality of the ovary, Ovarian g...	ORPHA:206484
Rudiger Syndrome	Short digit, Ovarian cyst, Bicornuate uterus, Micropenis	OMIM:268650
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Hand-Foot-Genital Syndrome	Clinodactyly of the 5th finger, Hypospadias, Longitudinal vaginal septum, Proximal placement of t...	OMIM:140000
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Xk Aprosencephaly Syndrome	Atrial septal defect, Microphthalmia, Ventricular septal defect, Abnormal external genitalia	ORPHA:3469
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, External genital hypoplasia, Obesity, Hypogonadism, Cryptorchidism	ORPHA:363741
46,Xx Testicular Difference Of Sex Development	Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism	ORPHA:393
Hand-Foot-Genital Syndrome	Clinodactyly of the 5th finger, Proximal placement of thumb, Hypospadias, Short first metatarsal,...	ORPHA:2438
Matthew-Wood Syndrome	Microphthalmia, Annular pancreas, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Vesicouretera...	ORPHA:2470
Meckel Syndrome, Type 8	Enlarged kidney, Microphthalmia, Anophthalmia, Polycystic kidney dysplasia, Pericardial effusion,...	OMIM:613885
Spondyloepimetaphyseal Dysplasia, Missouri Type	Small epiphyses, Flared metaphysis, Femoral bowing, Tibial bowing, Short lower limbs, Metaphyseal...	ORPHA:93356
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Tetragametic Chimerism	Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov...	ORPHA:199310
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Adams-Oliver Syndrome 4	Atrial septal defect, Microphthalmia, Ventricular septal defect	OMIM:615297
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia, Hypogonadism	ORPHA:2528
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Dihydropyrimidine Dehydrogenase Deficiency	Failure to thrive, Microphthalmia, Uraciluria, Elevated urinary dihydrothymine level	OMIM:274270
Nanophthalmos	Microphthalmia	ORPHA:35612
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Obesity, Microphthalmia, Hypogonadism, Cryptorchidism	OMIM:601794
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Patent foramen ovale, Bilateral cryptorchidism, Cardiomegaly, Atrial septal defec...	OMIM:618652
Omodysplasia 2	Fibular hypoplasia, Clinodactyly of the 5th finger, Hypospadias, Labial hypoplasia, Dislocated ra...	OMIM:164745
Spondyloepimetaphyseal Dysplasia, X-Linked	Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l...	OMIM:300106
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Decreased testicular size, Abnormality of the ovary, Hypogonadism	ORPHA:1875
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Vaginal fistula, Unilateral microphthalmos, Bicuspid aortic valve, Hors...	OMIM:619318
46,Xy Sex Reversal 3	Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la...	OMIM:612965
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Microphthalmia, Anophthalmia	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, Short metatarsal, Short metacarpal,...	OMIM:600705
Fryns Microphthalmia Syndrome	Unicornuate uterus, Microphthalmia, Anophthalmia	OMIM:600776
Metaphyseal Dysplasia, Braun-Tinschert Type	Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop...	ORPHA:85188
Microphthalmia/Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
46,Xx Ovotesticular Difference Of Sex Development	Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r...	ORPHA:2138
Nanophthalmos 4	Microphthalmia	OMIM:615972
Léri-Weill Dyschondrosteosis	Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph...	ORPHA:240
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Pierpont Syndrome	Microphthalmia, Decreased body weight, Failure to thrive, Cryptorchidism, Micropenis	OMIM:602342
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia, Small for gestational age	OMIM:278780
Spondylometaphyseal Dysplasia, Sedaghatian Type	Narrow greater sciatic notch, Short finger, Rhizomelia, Cone-shaped epiphyses of the phalanges of...	OMIM:250220
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va...	ORPHA:168563
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Uterus didelphys, Hydrocolpos, Partial vaginal septum, Abnormal uterine cervix morphology	ORPHA:3411
Warburg Micro Syndrome 1	Failure to thrive, Microphthalmia, External genital hypoplasia, Cryptorchidism	OMIM:600118
Congenital Toxoplasmosis	Cardiomegaly, Failure to thrive in infancy, Microphthalmia, Hepatomegaly	ORPHA:858
Weismann-Netter Syndrome	Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo...	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	Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia	ORPHA:2578
2Q24 Microdeletion Syndrome	Failure to thrive, Microphthalmia, Small for gestational age	ORPHA:1617
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Pierpont Syndrome	Microphthalmia, Cryptorchidism, Small for gestational age	ORPHA:487825
Congenital Fibrinogen Deficiency	Microphthalmia, Hemorrhagic ovarian cyst, Decreased testicular size, Right ventricular hypertroph...	ORPHA:335
Joubert Syndrome 37	Microphthalmia, Hepatomegaly, Decreased testicular size, Obesity, Hydronephrosis, Cryptorchidism,...	OMIM:619185
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Hematuria	OMIM:120433
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,...	OMIM:127300
Bresek Syndrome	Microphthalmia, Optic nerve hypoplasia, Vesicoureteral reflux, Decreased testicular size, Renal h...	ORPHA:85284
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Cofs Syndrome	Microphthalmia, Hypogonadism	ORPHA:1466
Oculocerebrocutaneous Syndrome	Microphthalmia, Cryptorchidism, Anophthalmia	OMIM:164180
Caudal Duplication Anomaly	Uterus didelphys	OMIM:607864
Vaginal Atresia	Transverse vaginal septum, Vaginal hematocele, Imperforate hymen, Bicornuate uterus, Cervicitis, ...	ORPHA:65681
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia, Unilateral renal agenesis, Patent foramen ovale, Cryptorchidism, Renal hypoplasia...	OMIM:618494
Seckel Syndrome 2	Ectopic kidney, Microphthalmia, Small for gestational age, Hypospadias	OMIM:606744
Trisomy 13	Atrial septal defect, Microphthalmia, Anophthalmia, Abnormality of the ureter, Cryptorchidism, Hy...	ORPHA:3378
Seckel Syndrome 7	Abnormal carpal morphology, Clinodactyly of the 5th finger, Short middle phalanx of the 5th finge...	OMIM:614851
Microphthalmia, Syndromic 8	Microphthalmia, Cryptorchidism	OMIM:601349
Foveal Hypoplasia 2	Microphthalmia, Hypoplasia of the fovea	OMIM:609218
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Hydroureter, Hypoplasia of penis	ORPHA:2547
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ...	ORPHA:1916
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Vaginal atresia, Hyp...	OMIM:617914
Fowler Urethral Sphincter Dysfunction Syndrome	Urinary incontinence, Dysuria, Abnormality of the ovary, Polycystic ovaries, Urinary retention, A...	ORPHA:2795
Acrofacial Dysostosis, Rodríguez Type	Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morphology, Finger aplasia, Ab...	ORPHA:1788
Thrombocytopenia-Absent Radius Syndrome	Fibular aplasia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the ulna, Finger syndactyl...	ORPHA:3320
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Ovarian Dysgenesis 2	Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:300510
Premature Ovarian Failure 7	Gonadal dysgenesis, Clitoral hypertrophy, Hypoplasia of the uterus	OMIM:612964
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Hepatomegaly, Hypertrophic cardiomyopathy, Renal hypoplasia, Ketonuria	OMIM:619053
Cerebrooculofacioskeletal Syndrome 2	Small scrotum, Microphthalmia, Micropenis, Small for gestational age	OMIM:610756
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Hypospadias, Anophthalmia, Hypoplasia of penis, Cryptorchidism, Ventricular septa...	ORPHA:77298
Cat-Eye Syndrome	Microphthalmia, Hydronephrosis	ORPHA:195
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia	OMIM:246570
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ambiguous genitalia, Microphthalmia, Ventricular septal defect	ORPHA:93267
Kapur-Toriello Syndrome	Microphthalmia, Hypoplasia of penis, Failure to thrive, Tetralogy of Fallot, Ventricular septal d...	ORPHA:2328
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the...	OMIM:614841
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia, Multiple bladder diverticula, Proteinuria, Small scrotum, Atrial septal defect, C...	ORPHA:2728
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Split hand, Bicornuate uteru...	ORPHA:958
Amed Syndrome, Digenic	Bone marrow hypocellularity, Hypoplasia of the uterus, Long thumb	OMIM:619151
Triokinase And Fmn Cyclase Deficiency Syndrome	Failure to thrive in infancy, Microphthalmia, Hepatomegaly, Dilated cardiomyopathy	OMIM:618805
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Linear Skin Defects With Multiple Congenital Anomalies 2	Atrial septal defect, Microphthalmia, Ventricular hypertrophy, Tetralogy of Fallot	OMIM:300887
Fanconi Anemia, Complementation Group I	Microphthalmia, Decreased response to growth hormone stimulation test, Optic nerve hypoplasia, Pa...	OMIM:609053
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Micropenis, Ectopic posteri...	OMIM:610125
Mayer-Rokitansky-Kuster-Hauser Syndrome	Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina...	OMIM:277000
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Micropenis	OMIM:308350
46,Xy Sex Reversal 7	Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G...	OMIM:233420
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Microphthalmia, Decreased pineal volume, Focal segmental glomerulosclerosis, Nephrotic syndrome, ...	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, Short long bone, Bicornuate uterus, Ulnar deviation of the hand, Me...	OMIM:263210
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
46,Xy Complete Gonadal Dysgenesis	Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis	ORPHA:242
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, Hypogonadotropic hypogonadism	ORPHA:1135
Baraitser-Winter Syndrome 1	Microphthalmia, Aortic valve stenosis, Failure to thrive, Bicuspid aortic valve, Cryptorchidism, ...	OMIM:243310
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Micropenis, Hyp...	OMIM:614837
Congenital Rubella Syndrome	Microphthalmia, Hepatomegaly, Aplasia/Hypoplasia of the iris, Splenomegaly, Atrial septal defect,...	ORPHA:290
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Encephalocraniocutaneous Lipomatosis	Microphthalmia, Pelvic kidney, Hypoplasia of the iris, Cryptorchidism, Hydronephrosis, Atrial sep...	OMIM:613001
Perrault Syndrome 6	Streak ovary, Hypoplasia of the uterus	OMIM:617565
Rere-Related Neurodevelopmental Syndrome	Microphthalmia, Hypospadias, Vesicoureteral reflux, Cryptorchidism, Abnormal heart morphology, Ve...	ORPHA:494344
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Ovarian Fibroma	Gonadal calcification, Ovarian fibroma, Abnormality of the ovary	ORPHA:314473
Perrault Syndrome 3	Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:614129
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Hypoplasia of the uterus, Bicornuate uterus, Azoospermia	OMIM:601076
Pseudotrisomy 13 Syndrome	Microphthalmia, Tricuspid atresia, Dextrocardia, Bicornuate uterus, Cryptorchidism, Renal hypopla...	OMIM:264480
Microphthalmia, Syndromic 9	Bilateral microphthalmos, Anophthalmia, Hypoplastic left atrium, Pelvic kidney, Truncus arteriosu...	OMIM:601186
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Hypospadias, Abnormal vagina morphology, Cryptorchidism, Abnormality of the uterus, Streak ovary,...	OMIM:194072
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Hypogonadotropic hypogonadism	ORPHA:48431
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Cardiomyopathy	OMIM:613155
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Testicular Agenesis	Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi...	ORPHA:325124
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia, Hematuria	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 carcinoma, Failure to thrive, Microphthalmia, Ovarian neoplasm	OMIM:617883
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Mosaic Trisomy 9	Microphthalmia, Hypoplastic female external genitalia, Dextrocardia, Abnormal fallopian tube morp...	ORPHA:99776
Ovarian Fibrothecoma	Gonadal calcification, Ovarian fibroma, Abnormal endometrium morphology, Abnormality of the ovary	ORPHA:314478
Fanconi Anemia, Complementation Group F	Microphthalmia, Decreased response to growth hormone stimulation test, Pelvic kidney, Vesicourete...	OMIM:603467
Caudal Duplication	Uterus didelphys, Abnormal penis morphology, Cryptorchidism	ORPHA:1756
Ovarian Dysgenesis 7	Hypoplasia of the uterus	OMIM:618117
Donnai-Barrow Syndrome	Bicornuate uterus, Abnormality of the uterus	ORPHA:2143
Meckel Syndrome, Type 4	Microphthalmia, Renal cyst, Bile duct proliferation, Atrial septal defect, Ventricular septal defect	OMIM:611134
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Rhizomelic arm shortening, Iliac crest serration, Short palm, Metaphyseal chond...	ORPHA:93317
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Short finger, Hip subluxation, Flared metaphysis, Epiphyseal stippling, Triangular shaped distal ...	OMIM:271665
Premature Ovarian Failure 13	Hypoplasia of the uterus	OMIM:617442
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Split hand, Bicornuate uterus, Rudimentary to a...	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, Absent tonsils, Gener...	OMIM:602450
Cerebrooculofacioskeletal Syndrome 1	Failure to thrive, Microphthalmia, Cryptorchidism, Small for gestational age	OMIM:214150
Mayer-Rokitansky-Küster-Hauser Syndrome	Unilateral renal agenesis, Ectopic kidney, Endometriosis, Aplasia of the uterus, Ectopic ovary, P...	ORPHA:3109
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Ventricular septal defect	OMIM:602501
Müllerian Aplasia And Hyperandrogenism	Hypoplasia of the uterus, Abnormality of the ovary, Brachydactyly, Abnormal vagina morphology	ORPHA:247768
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Warburg Micro Syndrome 4	Microphthalmia, Decreased testicular size, Small scrotum, Cryptorchidism, Micropenis	OMIM:615663
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Marden-Walker Syndrome	Microphthalmia, Dextrocardia, Hypospadias, Renal hypoplasia, Cryptorchidism, Micropenis	OMIM:248700
Ovarian Dysgenesis 5	Hypoplasia of the uterus	OMIM:617690
Microphthalmia, Syndromic 11	Microphthalmia, Agenesis of pineal gland	OMIM:614402
Meckel Syndrome, Type 5	Microphthalmia, Renal cyst, Bile duct proliferation	OMIM:611561
Premature Ovarian Failure 6	Streak ovary, Hypoplasia of the uterus	OMIM:612310
Leydig Cell Hypoplasia	Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Hypoplasia of the Leydi...	ORPHA:755
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Patent foramen ovale, Pulmonic stenosis, Renal hypoplasia, Lens coloboma	OMIM:618914
Subaortic Stenosis-Short Stature Syndrome	Obesity, Microphthalmia, Subvalvular aortic stenosis, Membranous subvalvular aortic stenosis	ORPHA:3191
46,Xy Sex Reversal 11	Abnormal internal genitalia, Aplasia of the uterus, Urogenital sinus anomaly, Vanishing testis, G...	OMIM:273250
Hydrolethalus	Microphthalmia, Cryptorchidism, Abnormal fallopian tube morphology, Anophthalmia	ORPHA:2189
Renal Hypodysplasia/Aplasia 3	Abnormality of the uterus	OMIM:617805
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Carpal bone hypoplasia, Irregular epiphyses, Small epiphyses, Metaphyseal striations, Flared meta...	OMIM:610442
Kapur-Toriello Syndrome	Microphthalmia, Cryptorchidism, Atrial septal defect, Ventricular septal defect, Micropenis, Hypo...	OMIM:244300
Premature Ovarian Failure 18	Hypoplasia of the ovary, Hypoplasia of the uterus	OMIM:619203
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Hypospadias, Abnormal scrotum morphology, Small scrotum, Cryptorchidism	ORPHA:2505
Renal Hypodysplasia/Aplasia 1	Talipes equinovarus, Bicornuate uterus, Vaginal atresia	OMIM:191830
46,Xx Sex Reversal 1	Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis...	OMIM:400045
Ovarian Dysgenesis 9	Hypoplasia of the ovary, Hypoplasia of the uterus	OMIM:619665
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Situs inversus totalis, Optic nerve hypoplasia, Microphthalmia, Decreased body weight	OMIM:614833
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia	ORPHA:324416
Moebius Syndrome	Decreased testicular size, Microphthalmia, Micropenis, Hypogonadotropic hypogonadism	OMIM:157900
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Hypogonadotropic hypogonadism	OMIM:614842
Ulnar-Mammary Syndrome	Aplasia of the 4th metacarpal, Short humerus, Absent radius, Aplasia of the 3rd metacarpal, Short...	OMIM:181450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia, Left ventricular hypertrophy	OMIM:613153
Fanconi Anemia, Complementation Group E	Microphthalmia, Ectopic kidney, Hypergonadotropic hypogonadism, Abnormal heart morphology, Small ...	OMIM:600901
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Small scrotum, Microphthalmia, Cryptorchidism, Hypogonadism	ORPHA:228390
Perrault Syndrome 4	Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus	OMIM:615300
Normosmic Congenital Hypogonadotropic Hypogonadism	Hypoplasia of the uterus, Male hypogonadism, Azoospermia, Hypoplasia of the ovary, Camptodactyly,...	ORPHA:432
Gracile Bone Dysplasia	Failure to thrive, Microphthalmia, Micropenis, Aniridia	OMIM:602361
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Isosexual precocious puberty	ORPHA:2788
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Azoospermia, Testicular microlithiasis, Abnormal spermatogenesis, Abnormality of the Leydig cells...	OMIM:228300
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
46,Xx Sex Reversal 2	Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Hypoplasia...	OMIM:278850
Warburg Micro Syndrome 3	Microphthalmia, Hypoplastic labia minora, Decreased testicular size, Small scrotum, Micropenis	OMIM:614222
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia, Abnormal heart morphology, Ventricular septal defect, Cryptorchidism	ORPHA:404440
Burkitt Lymphoma	Abnormality of the ovary	ORPHA:543
Osteopetrosis, Autosomal Recessive 8	Failure to thrive, Splenomegaly, Hepatomegaly, Unilateral microphthalmos	OMIM:615085
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Warburg Micro Syndrome 2	Microphthalmia, Small scrotum, Cryptorchidism, Micropenis, Hypoplastic labia majora	OMIM:614225
Micro Syndrome	Microphthalmia, Hypoplasia of penis, Hypoplastic labia minora, Clitoral hypoplasia, Hydronephrosi...	ORPHA:2510
Microphthalmia, Isolated 8	Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia	OMIM:615113
Fanconi Anemia, Complementation Group A	Microphthalmia, Ectopic kidney, Hypergonadotropic hypogonadism, Abnormal heart morphology, Small ...	OMIM:227650
Phocomelia, Schinzel Type	Hypoplasia of the radius, Fibular aplasia, Aplasia of the ulna, Abnormal tibia morphology, Hypopl...	ORPHA:2879
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Septo-optic dysplasia, Vaginal atresia, Cryptorchidism, Multicystic kidney 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	Short 1st metacarpal, Hypospadias, Wide distal femoral metaphysis, Hypoplastic labia minora, Tibi...	OMIM:269150
Complete Androgen Insensitivity Syndrome	Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ...	ORPHA:99429
Sandestig-Stefanova Syndrome	Microphthalmia, Muscular ventricular septal defect, Perimembranous ventricular septal defect, Sma...	OMIM:618804
Frontonasal Dysplasia 1	Microphthalmia, Tetralogy of Fallot	OMIM:136760
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Clitoral hypertrophy, Hypospadias, Hydronephrosis, Atrial septal defect, Ventricu...	OMIM:616449
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Cryptorchidism, Anophthalmia	ORPHA:139471
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos, Patent foramen ovale, Cryptorchidism, Abnormal heart morphology, Ventri...	ORPHA:369891
Thrombocytopenia-Absent Radius Syndrome	Femoral bowing, Aplasia of the uterus, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplas...	OMIM:274000
Fryns Syndrome	Microphthalmia, Hypospadias, Vesicoureteral reflux, Bicornuate uterus, Hydronephrosis, Tetralogy ...	ORPHA:2059
Meckel Syndrome 12	Rocker bottom foot, Hypoplasia of the uterus, Vaginal atresia	OMIM:616258
Fanconi Anemia, Complementation Group N	Microphthalmia, Ectopic kidney, Unilateral renal agenesis, Pelvic kidney, Small for gestational a...	OMIM:610832
Ritscher-Schinzel Syndrome 3	Microphthalmia, Atrioventricular canal defect, Cryptorchidism	OMIM:619135
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Microphthalmia, Congenital hypoparathyroid...	OMIM:241410
Spondylo-Ocular Syndrome	Microphthalmia, Ventricular septal defect, Aplasia/Hypoplasia of the lens	ORPHA:85194
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary aminoisobutyric acid, Microphthalmia, Beta-alaninuria, Elevated urinary 3-hydrox...	OMIM:614105
Lissencephaly 8	Microphthalmia	OMIM:617255
Meckel Syndrome, Type 2	Microphthalmia, Renal cyst, Bile duct proliferation	OMIM:603194
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Hypospadias, Unilateral microphthalmos, Failure to thrive, Mitral valve prolapse, Macroorchidism	OMIM:618874
Lumbar Syndrome	Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl...	ORPHA:83628
Linear Skin Defects With Multiple Congenital Anomalies 1	Microphthalmia, Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Ovotestis, Histiocyt...	OMIM:309801
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Clitoral hypertrophy, Clinodactyly of the 5th finger, Rectovaginal fistula, Labial hypoplasia, Bi...	OMIM:300707
Chromosome 13Q33-Q34 Deletion Syndrome	Penoscrotal transposition, Microphthalmia, Hypospadias, Bifid scrotum, Pulmonic stenosis, Left ve...	OMIM:619148
Partial Androgen Insensitivity Syndrome	Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Bifid scrotu...	ORPHA:90797
Trichothiodystrophy 3, Photosensitive	Failure to thrive, Microphthalmia, Bilateral cryptorchidism	OMIM:616395
Teebi Hypertelorism Syndrome 1	Small hand, Shawl scrotum, Bicornuate uterus, Hydrocele testis	OMIM:145420
Bartsocas-Papas Syndrome 1	Ulnar bowing, Hypoplastic labia majora, Hypoplastic iliac wing, Hypoplastic male external genital...	OMIM:263650
Denys-Drash Syndrome	Ambiguous genitalia, male, Gonadal dysgenesis, Ambiguous genitalia, female, Male pseudohermaphrod...	OMIM:194080
Acrofacial Dysostosis 1, Nager Type	Hypoplasia of the radius, Radial deviation of finger, Triphalangeal thumb, Aplasia/Hypoplasia of ...	OMIM:154400
46,Xy Sex Reversal 4	Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Agonadism, Hypoplas...	OMIM:154230
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Myoectodermal Gonadal Dysgenesis Syndrome	Gonadal dysgenesis, Accessory spleen, Bifid distal phalanx of toe, Clitoral hypoplasia, Short pal...	OMIM:618419
Prune Belly Syndrome	Urogenital sinus anomaly, Congenital hip dislocation, Decreased testicular size, Abnormality of t...	ORPHA:2970
Ulnar-Mammary Syndrome	Abnormal metacarpal morphology, Hypoplasia of penis, Abnormal morphology of the radius, Abnormal ...	ORPHA:3138
Ring Chromosome 10 Syndrome	Cachexia, Microphthalmia	ORPHA:1438
Microphthalmia With Limb Anomalies	Failure to thrive, Microphthalmia, Unilateral cryptorchidism, Anophthalmia	OMIM:206920
Cat Eye Syndrome	Microphthalmia, Tricuspid atresia, Vesicoureteral reflux, Total anomalous pulmonary venous return...	OMIM:115470
Microphthalmia, Syndromic 3	Microphthalmia, Hypospadias, Anophthalmia, Optic nerve hypoplasia, Anterior pituitary hypoplasia,...	OMIM:206900
Papillorenal Syndrome	Microphthalmia, Hematuria, Horseshoe kidney, Vesicoureteral reflux, Mild proteinuria, Nephrolithi...	OMIM:120330
Popliteal Pterygium Syndrome	Bifid scrotum, Cutaneous finger syndactyly, Hypoplasia of the vagina, Small scrotum, Cryptorchidi...	OMIM:119500
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Abnormal fallopian tube morphology, Pancreatic lymphangiectasis, Postaxial hand polydactyly, Hepa...	ORPHA:1655
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S...	OMIM:617925
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, Ventricular septal defect, Supernumerary nipple, Cryptorchidism	OMIM:612530
1Q21.1 Microdeletion Syndrome	Microphthalmia, Vesicoureteral reflux, Failure to thrive, Hydronephrosis, Cryptorchidism, Abnorma...	ORPHA:250989
Walker-Warburg Syndrome	Microphthalmia, Cryptorchidism, Anophthalmia, Hypoplasia of penis	ORPHA:899
Bardet-Biedl Syndrome 1	Abnormality of the ovary, Decreased testicular size, Obesity, Micropenis, Left ventricular hypert...	OMIM:209900
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormal metaphysis morphology, Long fibula	ORPHA:935
Fanconi Anemia, Complementation Group C	Microphthalmia, Ectopic kidney, Hypergonadotropic hypogonadism, Cryptorchidism, Small for gestati...	OMIM:227645
Jacobsen Syndrome	Microphthalmia, Annular pancreas, Hypospadias, Labial hypoplasia, Clitoral hypoplasia, Cryptorchi...	OMIM:147791
3Q29 Microdeletion Syndrome	Microphthalmia, Horseshoe kidney, Hypospadias, Failure to thrive, Subvalvular aortic stenosis	ORPHA:65286
Meckel Syndrome 14	Microphthalmia, Polycystic kidney dysplasia, Aplasia of the uterus, Ambiguous genitalia, Single v...	OMIM:619879
Martsolf Syndrome 1	Microphthalmia, Cardiomyopathy, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism	OMIM:212720
Estrogen Resistance Syndrome	Hypoplasia of the uterus, Enlarged polycystic ovaries, Delayed epiphyseal ossification	ORPHA:785
Anterior Segment Dysgenesis 5	Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris	OMIM:604229
Pallister-Hall Syndrome	Microphthalmia, Decreased response to growth hormone stimulation test, Hydroureter, Ectopic kidne...	OMIM:146510
Microphthalmia, Lenz Type	Microphthalmia, Hydroureter, Hypospadias, Hydronephrosis, Cryptorchidism	ORPHA:568
Refsum Disease	Cardiomyopathy, Microphthalmia, Renal insufficiency, Splenomegaly	ORPHA:773
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, External genital hypoplasia, Anophthalmia, Hypoplasia of penis, Hypogonadism, Cry...	ORPHA:2250
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Histiocytoid Cardiomyopathy	Microphthalmia, Hepatomegaly, Congenital aphakia, Renal cyst, Failure to thrive, Cardiomegaly, Po...	ORPHA:137675
Oeis Complex	Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Labial hypopl...	OMIM:258040
Congenital Disorder Of Glycosylation, Type Iq	Failure to thrive, Microphthalmia	OMIM:612379
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Townes-Brocks Syndrome 1	Clinodactyly of the 5th toe, Bifid scrotum, Broad thumb, Aplasia/Hypoplasia of the 3rd toe, Hypos...	OMIM:107480
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic nerve hypoplasia, Microphthalmia, Cardiomyopathy	ORPHA:370959
Ehlers-Danlos Syndrome, Classic-Like, 1	Bicornuate uterus, Ambiguous genitalia, female	OMIM:606408
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	Microphthalmia, Hepatomegaly, Rectovaginal fistula, Anophthalmia, Truncus arteriosus, Perineal fi...	ORPHA:2538
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ...	OMIM:276820
Microphthalmia With Linear Skin Defects Syndrome	Epispadias, Microphthalmia, Tricuspid valve prolapse, Clitoral hypertrophy, Hypospadias, Abnormal...	ORPHA:2556
Fanconi Anemia, Complementation Group D2	Microphthalmia, Annular pancreas, Ectopic kidney, Pelvic kidney, Hypergonadotropic hypogonadism, ...	OMIM:227646
Fanconi Anemia	Abnormal femur morphology, Hypogonadism, Hip dislocation, Hypoplasia of the ulna, Aplasia/Hypopla...	ORPHA:84
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia, Oligosacchariduria	ORPHA:163649
Joubert Syndrome 2	Microphthalmia, Nephronophthisis, Hypoplastic male external genitalia, Renal cyst, Failure to thr...	OMIM:608091
Stevenson-Carey Syndrome	Atrial septal defect, Microphthalmia	OMIM:611961
Meckel Syndrome	Situs inversus totalis, Microphthalmia, Ureteral duplication, Anophthalmia, Pancreatic cysts, Mal...	ORPHA:564
Chromosome 17Q12 Duplication Syndrome	Atrial septal defect, Microphthalmia	OMIM:614526
Rhombencephalosynapsis	Polydactyly, Finger syndactyly, Short phalanx of finger, Abnormality of the uterus, Complete dupl...	ORPHA:59315
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Histiocytoid cardiomyopathy, Thyroid C cell hyperplasia, Failure to thrive, Dilat...	OMIM:300952
Solitary Median Maxillary Central Incisor	Microphthalmia, Decreased response to growth hormone stimulation test, Anterior hypopituitarism, ...	OMIM:147250
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Vaginal atresia, Anophthalmia	OMIM:248450
Townes-Brocks Syndrome 2	Bifid uterus, Hypospadias, Rectovaginal fistula	OMIM:617466
Ohdo Syndrome, X-Linked	Microphthalmia, Decreased body weight, Small scrotum, Shawl scrotum, Cryptorchidism, Micropenis	OMIM:300895
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia, Hypospadias, Hypoplasia of penis, Thyroid hypoplasia, Ambiguous genitalia, Crypto...	ORPHA:2166
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Hypoplasia of the radius, Clitoral hypertrophy, Clinodactyly of the 5th finger, Labial hypoplasia...	ORPHA:140952
Joubert Syndrome 14	Microphthalmia, Ventricular septal defect, Renal cyst	OMIM:614424
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Precocious puberty in males, Long penis, Decreased testicular size, Hypopla...	OMIM:202010
Hypoplasminogenemia	Cervicitis, Nephrolithiasis, Abnormal fallopian tube morphology, Abnormality of the ovary	ORPHA:722
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Bifid scrotum, Splenomegaly, Small scrotum, Overlapping toe, Septate...	OMIM:270400
Cerebrooculofacioskeletal Syndrome 4	Failure to thrive in infancy, Bilateral microphthalmos, Abnormal heart morphology, Decreased body...	OMIM:610758
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas...	ORPHA:90796
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Uterus didelphys, Septate vagina, Aplasia of the uterus, Aplasia of the vagina	OMIM:146255
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
46,Xx Gonadal Dysgenesis	Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Streak ovary, Arachnodactyly	ORPHA:243
Estrogen Resistance	Polycystic ovaries, Hypoplasia of the uterus	OMIM:615363
Duane-Radial Ray Syndrome	Microphthalmia, Optic disc hypoplasia, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, C...	OMIM:607323
Hydrolethalus Syndrome 1	Hypospadias, Abnormal vagina morphology, Upper limb undergrowth, Accessory spleen, Postaxial hand...	OMIM:236680
Cohen Syndrome	Microphthalmia, Cryptorchidism, Obesity, Mitral valve prolapse, Failure to thrive in infancy, Ven...	ORPHA:193
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplastic iris stroma, Hypoplasia of the fovea, Macular hyp...	ORPHA:2334
3P25.3 Microdeletion Syndrome	Pulmonic stenosis, Atrial septal defect, Microphthalmia, Ventricular septal defect	ORPHA:435638
Trisomy 18	Microphthalmia, Cachexia, Cryptorchidism, Hydronephrosis, Atrial septal defect, Ventricular septa...	ORPHA:3380
8Q21.11 Microdeletion Syndrome	Microphthalmia, Cryptorchidism, Hypoplasia of penis	ORPHA:284160
Mosaic Trisomy 1	Microphthalmia, Renal cortical cysts, Renal cyst, Penile hypospadias, Ventricular septal defect, ...	ORPHA:1692
Duplication Of Urethra	Epispadias, Clitoral hypertrophy, Penile hypospadias, Hypospadias, Bifid scrotum, Uterus didelphy...	ORPHA:237
Fanconi Anemia, Complementation Group R	Pelvic kidney, Microphthalmia	OMIM:617244
Congenital Primary Aphakia	Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita...	ORPHA:83461
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Fraser Syndrome 2	Microphthalmia, Unilateral renal agenesis, Hypoplasia of the thymus, Renal hypoplasia, Ureteral a...	OMIM:617666
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Absent tonsils, Lymph node hypoplasia	ORPHA:276
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Unilateral brachydactyly, Bifid uterus, Abnormal reproductive system morphology, Syndactyly	ORPHA:1521
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Monosomy 18P	Microphthalmia	ORPHA:1598
Townes-Brocks Syndrome	Microphthalmia, Ectopic kidney, Hypospadias, Hypoplasia of penis, Abnormal vagina morphology, Rec...	ORPHA:857
Chromosome 17Q12 Deletion Syndrome	Aplasia of the vagina, Upper limb undergrowth, Aplasia of the uterus, Unicornuate uterus, Short p...	OMIM:614527
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Aplasia of the uterus, Aplasia of the fallopian tube, Aplasia of the...	OMIM:158330
Fryns Syndrome	Large for gestational age, Microphthalmia, Ureteral duplication, Hypospadias, Bifid scrotum, Bico...	OMIM:229850
Donnai-Barrow Syndrome	Short sternum, Bicornuate uterus	OMIM:222448
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Hypospadias, Cholelithiasis, Male urethral meatus stenosis, Hydronephrosis, Atria...	ORPHA:464738
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia, Cryptorchidism, Micropenis	OMIM:614230
Temtamy Syndrome	Microphthalmia	OMIM:218340
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
3Q29 Microduplication Syndrome	Obesity, Microphthalmia, Ventricular septal defect, Aniridia	ORPHA:251038
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Microphthalmia, Hypospadias, Anophthalmia	OMIM:615877
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Oculofaciocardiodental Syndrome	Microphthalmia, Mitral valve prolapse, Abnormal cardiac septum morphology	ORPHA:2712
Heart And Brain Malformation Syndrome	Microphthalmia, Ventricular septal defect	OMIM:616920
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Rocker bottom foot, Clitoral hypertrophy, Femoral bowing, Bifid scrotum, Arachnodactyly, Ovarian ...	OMIM:201750
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Microphthalmia/Coloboma 12	Optic nerve aplasia, Microphthalmia, Vesicoureteral reflux	OMIM:120200
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia, Renal cyst, Renal hypoplasia, Ambiguous genitalia, Cryptorchidism	OMIM:616300
Adams-Oliver Syndrome	Failure to thrive, Microphthalmia, Tetralogy of Fallot, Abnormal pulmonary valve morphology	ORPHA:974
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Microphthalmia, Perimembranous ventricular septal defect, Atrioventricular canal defect, Hypospad...	ORPHA:508498
Genitourinary And/Or Brain Malformation Syndrome	Gonadal dysgenesis, Clitoral hypertrophy, Hypospadias, Urogenital sinus anomaly, Cryptorchidism, ...	OMIM:618820
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Atrial septal defect, Microphthalmia, Transposition of the great arteries, Pulmonic stenosis, Myo...	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	Microphthalmia, Unilateral renal agenesis, Aplasia of the uterus, Renal hypoplasia, Micropenis	OMIM:614083
Alg9-Cdg	Narrow greater sciatic notch, Rhizomelia, Flared metaphysis, Hypoplasia of the ovary, Hitchhiker ...	ORPHA:79328
Anterior Segment Dysgenesis 2	Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia	OMIM:610256
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia, Supernumerary nipple	OMIM:620098
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis	OMIM:266810
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia, Decreased body weight	OMIM:617306
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal female external genitalia morphology, Unilateral renal agenesis, Hypospadias, Abnormal o...	ORPHA:95699
Vacterl With Hydrocephalus	Microphthalmia, Cryptorchidism, Abnormal fallopian tube morphology, Anophthalmia	ORPHA:3412
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Hypospadias, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism, Hypoplast...	OMIM:603457
Galloway-Mowat Syndrome 3	Microphthalmia, Glomerular sclerosis, Nephrotic syndrome, Failure to thrive, Diffuse mesangial sc...	OMIM:617729
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Abnormal heart morphology	OMIM:618571
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Adams-Oliver Syndrome 1	Microphthalmia, Imperforate hymen, Pulmonic stenosis, Aortic valve stenosis, Tetralogy of Fallot,...	OMIM:100300
Holoprosencephaly	Microphthalmia, Anterior hypopituitarism, Anophthalmia, Hypoplasia of penis, Panhypopituitarism, ...	ORPHA:2162
22Q11.2 Deletion Syndrome	Microphthalmia, Multiple renal cysts, Splenomegaly, Tricuspid atresia, Hypospadias, Polycystic ki...	ORPHA:567
Microphthalmia, Syndromic 2	Microphthalmia, Hypospadias, Dextrocardia, Anophthalmia, Decreased body weight, Cryptorchidism, P...	OMIM:300166
Neu-Laxova Syndrome 1	Rocker bottom foot, Radial deviation of finger, Finger syndactyly, Calcaneovalgus deformity, Camp...	OMIM:256520
Teebi-Shaltout Syndrome	Microphthalmia, Ureteral stenosis, Aortic valve stenosis, Hydronephrosis, Ventricular septal defe...	OMIM:272950
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia, Ventricular septal defect	OMIM:234050
Meacham Syndrome	Blind vagina, Accessory spleen, Bicornuate uterus, Male pseudohermaphroditism, Septate vagina	OMIM:608978
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Abnormal cardiac septum morphology	ORPHA:1352
Purine Nucleoside Phosphorylase Deficiency	Lymph node hypoplasia, Splenomegaly	OMIM:613179
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Hypospadias, Endometriosis, Camptodactyly, Overlapping toe, Micropenis	ORPHA:363444
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Supernumerary nipple, Patent foramen ovale, Ventricular septal defect, Cryptorchi...	OMIM:613884
Phace Association	Optic nerve hypoplasia, Microphthalmia, Ventricular septal defect, Lingual thyroid	OMIM:606519
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia, Hydronephrosis	ORPHA:35173
Focal Dermal Hypoplasia	Microphthalmia, Hypoplasia of the iris, Hydronephrosis, Ventricular septal defect, Multicystic ki...	ORPHA:2092
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Small for gestational age, Hypogonadism	OMIM:601675
2Q31.1 Microdeletion Syndrome	Atrial septal defect, Microphthalmia, Ventricular septal defect, Cryptorchidism	ORPHA:251014
Rodrigues Blindness	Microphthalmia	OMIM:268320
Frontonasal Dysplasia 2	Microphthalmia, Bilateral cryptorchidism	OMIM:613451
Cousin Syndrome	Ambiguous genitalia, male, Microphthalmia, Hydronephrosis, Ambiguous genitalia, female	OMIM:260660
Galloway-Mowat Syndrome 1	Microphthalmia, Focal segmental glomerulosclerosis, Hypoplasia of the iris, Nephrotic syndrome, P...	OMIM:251300
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia, Vaginal neoplasm, Ambiguous genitalia, Atrial septal defect, Multicystic kidney d...	ORPHA:1052
Frontofacionasal Dysplasia	Microphthalmia	ORPHA:1791
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia, Annular pancreas, Hypospadias, Patent foramen ovale, Vesicoureteral reflux, Renal...	OMIM:616975
Acro-Renal-Ocular Syndrome	Microphthalmia, Optic disc hypoplasia, Vesicoureteral reflux, Tetralogy of Fallot, Bladder divert...	ORPHA:959
Chondrodysplasia Punctata 2, X-Linked Dominant	Failure to thrive, Microphthalmia, Hydronephrosis	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	Microphthalmia, Rectovaginal fistula, Hypoplasia of penis, Thyroid hypoplasia, Hypoplasia of the ...	ORPHA:861
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia, Patent foramen ovale, Renal hypoplasia, Atrial septal defect, Cryptorchidism	OMIM:620005
Pelvis-Shoulder Dysplasia	Microphthalmia	OMIM:169550
Roberts-Sc Phocomelia Syndrome	Hypoplasia of the ulna, Clitoral hypertrophy, Enlarged labia minora, Radial deviation of finger, ...	OMIM:268300
Mend Syndrome	Microphthalmia, Aortic valve stenosis, Failure to thrive, Abnormal heart morphology, Cryptorchidism	ORPHA:401973
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Optic nerve hypoplasia, Bilateral microphthalmos	OMIM:607597
Basal Cell Nevus Syndrome 1	Microphthalmia, Cardiac rhabdomyoma, Ovarian fibroma, Cardiac fibroma, Ovarian carcinoma	OMIM:109400
Stromme Syndrome	Optic nerve hypoplasia, Microphthalmia, Hydronephrosis, Bilateral renal hypoplasia	OMIM:243605
Meckel Syndrome, Type 1	Ambiguous genitalia, male, Microphthalmia, External genital hypoplasia, Polycystic kidney dysplas...	OMIM:249000
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia, Hypoplastic nipples	OMIM:156610
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo...	ORPHA:90793
Tetraamelia Syndrome 1	Microphthalmia, Absent external genitalia, Hypoplasia of the fallopian tube, Vaginal atresia, Ure...	OMIM:273395
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia, Increased circulating gonadotropin level, Hypoplasia of the uterus	OMIM:110100
Yunis-Varon Syndrome	Microphthalmia, Severe failure to thrive, Bilateral microphthalmos, Hypospadias, Clitoral hypertr...	ORPHA:3472
Pelvis-Shoulder Dysplasia	Ambiguous genitalia, Bilateral microphthalmos, Hydronephrosis	ORPHA:2839
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Uterus didelphys, Septate vagina, Aplasia of the uterus, Vaginal atresia	ORPHA:2237
Renpenning Syndrome 1	Situs inversus totalis, Microphthalmia, Hypospadias, Phimosis, Decreased testicular size, Renal h...	OMIM:309500
Monosomy 9Q22.3	Cardiac fibroma, Large for gestational age, Microphthalmia, Ovarian fibroma	ORPHA:77301
Fraser Syndrome 1	Clitoral hypertrophy, Hypospadias, Aplasia/Hypoplasia of the thumb, Bicornuate uterus, Cutaneous ...	OMIM:219000
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia, Hypospadias, Bifid scrotum, Total anomalous pulmonary venous return, Clitoral hyp...	OMIM:609945
Pallister-Hall Syndrome	Microphthalmia, Ectopic kidney, Thyroid hypoplasia, Small scrotum, Hydrometrocolpos, Hypospadias,...	ORPHA:672
Nasopalpebral Lipoma-Coloboma Syndrome	Bilateral microphthalmos, Microphthalmia	ORPHA:2399
Cockayne Syndrome B	Microphthalmia, Severe failure to thrive, Hepatomegaly, Renal insufficiency, Hypoplasia of the ir...	OMIM:133540
Charge Syndrome	Microphthalmia, Abnormal aortic valve morphology, Anterior hypopituitarism, Anophthalmia, Labial ...	ORPHA:138
Charge Syndrome	Microphthalmia, Pulmonic stenosis, Dysplastic tricuspid valve, Decreased response to growth hormo...	OMIM:214800
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Degcags Syndrome	Abnormal renal medulla morphology, Microphthalmia, Hepatomegaly, Hypospadias, Dysplastic pulmonar...	OMIM:619488
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Opitz Gbbb Syndrome	Hypospadias, Bifid scrotum, Bicornuate uterus, Shawl scrotum, Enlarged ovaries, Cryptorchidism	ORPHA:2745
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Microphthalmia, Optic nerve hypoplasia, Hypoplastic male external genitalia, Buphthalmos, Cryptor...	OMIM:236670
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Hypogonadism	OMIM:610651
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Cockayne Syndrome Type 3	Microphthalmia, Hepatomegaly, Hydroureter, Unilateral renal agenesis, Neurogenic bladder, Cardiom...	ORPHA:90324
Phace Syndrome	Microphthalmia, Optic nerve hypoplasia, Abnormal heart morphology, Tetralogy of Fallot, Lens colo...	ORPHA:42775
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral...	ORPHA:168558
Lacrimoauriculodentodigital Syndrome	Hypoplasia of the radius, Abnormal thumb morphology, Finger syndactyly, Bicornuate uterus, Abnorm...	ORPHA:2363
Ehlers-Danlos Syndrome, Vascular Type	Osteolytic defects of the phalanges of the hand, Talipes equinovarus, Cervical insufficiency, Met...	OMIM:130050
Microsporidiosis	Prostatitis, Abnormal fallopian tube morphology, Lymphadenitis, Abnormal endometrium morphology, ...	ORPHA:2552
Microphthalmia/Coloboma 9	Microphthalmia	OMIM:615145
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral...	ORPHA:289548
Dubowitz Syndrome	Microphthalmia, Cryptorchidism, Hypospadias, Hypoplasia of the iris	OMIM:223370
Mycophenolate Mofetil Embryopathy	Microphthalmia, Ventricular septal defect, Ectopic kidney	ORPHA:268249
Incontinentia Pigmenti	Breast hypoplasia, Microphthalmia, Breast aplasia, Hypoplastic nipples, Hypoplasia of the fovea, ...	OMIM:308300
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Oculodentodigital Dysplasia, Autosomal Recessive	Failure to thrive, Microphthalmia	OMIM:257850
Fraser Syndrome	Hypospadias, Hypoplasia of penis, Abnormal vagina morphology, Finger syndactyly, Bicornuate uteru...	ORPHA:2052
Fontaine Progeroid Syndrome	Microphthalmia, Small scrotum, Hypoplastic nipples, Absent nipple, Failure to thrive, Abnormal he...	OMIM:612289
Agammaglobulinemia, X-Linked	Prostatitis, Lymph node hypoplasia, Epididymitis	OMIM:300755
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Beaulieu-Boycott-Innes Syndrome	Endometriosis	OMIM:613680
Hallermann-Streiff Syndrome	Microphthalmia, Cryptorchidism, Small for gestational age	OMIM:234100
Pagod Syndrome	Abnormal testis morphology, Female pseudohermaphroditism, Abnormality of the uterus, Abnormality ...	ORPHA:991
Myhre Syndrome	Microphthalmia, Cryptorchidism, Aortic valve stenosis, Pericardial effusion, Obesity, Atrial sept...	OMIM:139210
Rothmund-Thomson Syndrome, Type 2	Annular pancreas, Microphthalmia, Hypogonadism, Cryptorchidism, Small for gestational age	OMIM:268400
Pierson Syndrome	Microphthalmia, Hypoplasia of the ciliary body, Hypoplasia of the iris, Nephrotic syndrome, Riege...	OMIM:609049
Microphthalmia With Limb Anomalies	Microphthalmia, True anophthalmia, Failure to thrive, Cryptorchidism, Horseshoe kidney	ORPHA:1106
Steinfeld Syndrome	Absent gallbladder, Microphthalmia, Abnormal heart morphology	OMIM:184705
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Abnormal metaphysis morphology, Hypoplasia of penis, Abnormal pelvis bone ossification, Postaxial...	ORPHA:93271
Frontorhiny	Hypopituitarism, Microphthalmia	ORPHA:391474
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Severe failure to thrive, Unilateral renal agenesis, Hypospadias, Pelvi...	ORPHA:468631
Roberts Syndrome	Microphthalmia, Clitoral hypertrophy, Long penis, Polycystic kidney dysplasia, Cryptorchidism	ORPHA:3103
Oculocerebrorenal Syndrome Of Lowe	Microphthalmia, Hematuria, Azoospermia, Hypercalciuria, Nephrolithiasis, Cryptorchidism, Failure ...	ORPHA:534
Monosomy 9P	Microphthalmia, Hypospadias, Ureteropelvic junction obstruction, Ambiguous genitalia, Cryptorchidism	ORPHA:261112
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Triphalangeal thumb, Agonadism, Hypergonadotropic hypogonadism, Aplasia/hypoplasia of the uterus,...	ORPHA:2232
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia, Hypospadias, Ureterocele, Small scrotum, Cryptorchidism	OMIM:616734
Proboscis Lateralis	Microphthalmia, External genital hypoplasia, Unilateral renal agenesis, Anophthalmia, Optic nerve...	ORPHA:141099
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia, Patent foramen ovale, Hypoplastic nipples, Thyroid hypoplasia, Absent nipple, Rig...	OMIM:620186
Woodhouse-Sakati Syndrome	Hypoplasia of the fallopian tube, Hypergonadotropic hypogonadism, Decreased testicular size, Micr...	OMIM:241080
Currarino Syndrome	Septate vagina, Bicornuate uterus, Rectovaginal fistula	OMIM:176450
Norrie Disease	Buphthalmos, Microphthalmia, Hypoplasia of the iris	OMIM:310600
Cockayne Syndrome	Microphthalmia, Urinary incontinence, Hepatomegaly, Unilateral renal agenesis, Cachexia, Neurogen...	ORPHA:191
Peters-Plus Syndrome	Square pelvis bone, Rhizomelia, Hypospadias, Proximal placement of thumb, Short metatarsal, Clino...	OMIM:261540
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Absent vas deferens, Bicornuate uterus, Hypospadias, Papillary cystadenoma of the epididymis	ORPHA:93111
Okamoto Syndrome	Polydactyly, Bifid uterus, Splenomegaly, Hip dysplasia	ORPHA:2729
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Supernumerary nipple	ORPHA:1236
Renal Cysts And Diabetes Syndrome	Hypospadias, Bicornuate uterus, Atretic vas deferens, Epididymal cyst, Hypoplasia of the uterus	OMIM:137920
Woodhouse-Sakati Syndrome	Hypoplasia of the uterus, Abnormal spermatogenesis, Hypoplasia of the fallopian tube, Decreased t...	ORPHA:3464
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Lymphedema-Distichiasis Syndrome	Microphthalmia, Ventricular septal defect, Tetralogy of Fallot	OMIM:153400
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Hypoparathyroidism, Small for gestational age	OMIM:127000
Momo Syndrome	Bilateral microphthalmos, Large for gestational age, Obesity	ORPHA:2563
Persistent Hyperplastic Primary Vitreous	Phthisis bulbi, Microphthalmia, Buphthalmos, Macular hypoplasia	ORPHA:91495
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Atelis Syndrome 2	Pulmonic stenosis, Microphthalmia, Supravalvar pulmonary stenosis	OMIM:620185
Premature Aging Syndrome, Penttinen Type	Failure to thrive, Microphthalmia	OMIM:601812
Waardenburg Syndrome	Abnormality of the uterus, Abnormal vagina morphology	ORPHA:3440
Trichothiodystrophy	Gonadal dysgenesis, Bilateral microphthalmos, Cardiomyopathy, Cryptorchidism, Ventricular septal ...	ORPHA:33364
Holoprosencephaly 9	Decreased response to growth hormone stimulation test, Microphthalmia, Anterior pituitary agenesi...	OMIM:610829
Lowe Oculocerebrorenal Syndrome	Low-molecular-weight proteinuria, Bicarbonaturia, Microphthalmia, Failure to thrive, Hyperphospha...	OMIM:309000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia	OMIM:613150
Exstrophy-Epispadias Complex	Penoscrotal transposition, Epispadias, Bifid penis, Bifid scrotum, Absent penis, Bifid uterus, Cy...	ORPHA:322
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Clinodactyly of the 5th finger, Aplasia of the vagina, Aplasia of the uterus, Postaxial polydacty...	ORPHA:457284
Incontinentia Pigmenti	Microphthalmia, Supernumerary nipple	ORPHA:464
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Phthisis bulbi, Microphthalmia, Buphthalmos	OMIM:221900
Oculodentodigital Dysplasia	Atrial septal defect, Neurogenic bladder, Microphthalmia	OMIM:164200
Hallermann-Streiff Syndrome	Microphthalmia, Cryptorchidism	ORPHA:2108
Focal Dermal Hypoplasia	Microphthalmia, Ureteral duplication, Aniridia, Anophthalmia, Labial hypoplasia, Hypoplastic nipp...	OMIM:305600
Turner Syndrome Due To Structural X Chromosome Anomalies	Increased circulating gonadotropin level, Ectopic kidney, High urinary gonadotropin level, Abnorm...	ORPHA:99413
Turner Syndrome	Increased circulating gonadotropin level, Ectopic kidney, High urinary gonadotropin level, Abnorm...	ORPHA:881
Mosaic Monosomy X	Increased circulating gonadotropin level, Ectopic kidney, High urinary gonadotropin level, Abnorm...	ORPHA:99228
Monosomy X	Increased circulating gonadotropin level, Ectopic kidney, High urinary gonadotropin level, Abnorm...	ORPHA:99226
Limb-Mammary Syndrome	Clinodactyly of the 5th finger, Aplasia of the uterus, Oligodactyly, Syndactyly, 3-4 finger cutan...	ORPHA:69085
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	Hip subluxation, Clinodactyly of the 5th finger, Hyperextensibility of the finger joints, Short m...	OMIM:619503
Loeys-Dietz Syndrome	Camptodactyly of finger, Arachnodactyly, Uterine rupture	ORPHA:60030
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Overriding aorta, Microphthalmia, Tetralogy of Fallot	ORPHA:3186
Peters Plus Syndrome	Rhizomelia, Hypospadias, Clinodactyly of the 5th finger, Clitoral hypoplasia, Micromelia, Short t...	ORPHA:709
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Clitoral hypertrophy, Premature pubarche, Premature fusion of the radial epiphyseal plates, Preco...	ORPHA:90794
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Optic nerve hypoplasia, Microphthalmia	OMIM:614643
Treacher Collins Syndrome 1	Bilateral microphthalmos, Abnormal heart morphology, Abnormal parotid gland morphology, Cryptorch...	OMIM:154500
Pontocerebellar Hypoplasia Type 7	Gonadal dysgenesis, Clitoral hypertrophy, Fatigable weakness of skeletal muscles, Abnormal scrota...	ORPHA:284339
Microphthalmia, Syndromic 6	Microphthalmia, Anterior hypopituitarism, Anophthalmia, Female hypogonadism, Failure to thrive, R...	OMIM:607932
Cornelia De Lange Syndrome	Short 1st metacarpal, Hypospadias, Proximal placement of thumb, Hypoplasia of penis, Clinodactyly...	ORPHA:199
Oculoauricular Syndrome	Microphakia, Phthisis bulbi, Microphthalmia, Macular hypoplasia	OMIM:612109
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
8Q24.3 Microdeletion Syndrome	Bilateral microphthalmos, Atrioventricular canal defect, Unilateral renal agenesis, Pelvic kidney...	ORPHA:508488
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicornuate uterus, Hypospadias, Pulmonary lymphangiectasia, Asplenia	OMIM:265380
Wolf-Hirschhorn Syndrome	Hypospadias, Short hallux, Accessory spleen, Aplasia of the uterus, Split hand, Precocious pubert...	OMIM:194190
Mowat-Wilson Syndrome	Microphthalmia, Hypospadias, Bifid scrotum, Cryptorchidism, Pulmonic stenosis, Abnormal heart mor...	OMIM:235730
Linear Nevus Sebaceus Syndrome	Microphthalmia, Adenoma sebaceum	ORPHA:2612
Holoprosencephaly 1	Microphthalmia, Micropenis, Single ventricle	OMIM:236100
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Failure to thrive, Microphthalmia, Ventricular septal hypertrophy, Ventricular septal defect	OMIM:608670
Renal Agenesis	Aplasia/hypoplasia of the uterus, Absent vas deferens, Talipes equinovarus	ORPHA:411709
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Microphthalmia	OMIM:608940
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Microphthalmia, Urinary incontinence, Bifid scrotum, Pulmonic stenosis, Aortic valve stenosis, Ab...	ORPHA:261537
Aicardi Syndrome	Precocious puberty, Microphthalmia	ORPHA:50
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Atrial septal defect, Microphthalmia, Anophthalmia	ORPHA:2526
Curry-Jones Syndrome	Microphthalmia	OMIM:601707
Cardiac-Urogenital Syndrome	Penoscrotal hypospadias, Accessory spleen, 2-3 toe syndactyly, Aplasia of the uterus, Bifid scrot...	OMIM:618280
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Perimembranous ventricular septal defect, Microphthalmia, Transposition of the great arteries, Mu...	OMIM:612474
Mowat-Wilson Syndrome	Microphthalmia, Urinary incontinence, Bifid scrotum, Pulmonic stenosis, Aortic valve stenosis, Ab...	ORPHA:2152
Aicardi Syndrome	Precocious puberty, Microphthalmia	OMIM:304050
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Microphthalmia, Urinary incontinence, Bifid scrotum, Pulmonic stenosis, Aortic valve stenosis, Ab...	ORPHA:261552
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Polycystic ovaries, Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism	ORPHA:572333
Witteveen-Kolk Syndrome	Microphthalmia, Decreased response to growth hormone stimulation test, Hypospadias, Phimosis, Mic...	OMIM:613406
Norrie Disease	Microphthalmia, Aplasia/Hypoplasia of the lens, Cachexia, Hypoplasia of the iris, Cryptorchidism,...	ORPHA:649
Traboulsi Syndrome	Microphthalmia, Homocystinuria	OMIM:601552
Coffin-Lowry Syndrome	Bifid sternum, Hyperextensibility of the finger joints, Narrow iliac wing, Short metacarpal, Uter...	OMIM:303600
Cowden Syndrome	Abnormal penis morphology, Enlarged polycystic ovaries, Abnormality of the uterus, Brachydactyly,...	ORPHA:201
Osteoporosis-Pseudoglioma Syndrome	Phthisis bulbi, Microphthalmia, Ventricular septal defect	OMIM:259770
Holoprosencephaly 7	Bilateral microphthalmos, Microphthalmia, Panhypopituitarism	OMIM:610828
Autosomal Dominant Kenny-Caffey Syndrome	Decreased testicular size, Bilateral microphthalmos, Congenital hypoparathyroidism	ORPHA:93325
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina	OMIM:271520
Oculo-Palato-Cerebral Syndrome	Microphthalmia	ORPHA:2714
Coffin-Siris Syndrome 1	Clitoral hypertrophy, Clinodactyly of the 5th finger, Hypospadias, Sandal gap, Dislocated radial ...	OMIM:135900
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Vascular Ehlers-Danlos Syndrome	Hypospadias, Uterine rupture, Congenital hip dislocation, Uterine prolapse, Cystocele, Cryptorchi...	ORPHA:286
Branchiooculofacial Syndrome	Microphthalmia, Hypospadias, Anophthalmia, Renal cyst, Cryptorchidism, Supernumerary nipple	OMIM:113620
Hermansky-Pudlak Syndrome 6	Perineal fistula, Endometriosis	OMIM:614075
Classical Ehlers-Danlos Syndrome	Dislocated radial head, Cervical insufficiency, Shoulder dislocation, Uterine prolapse, Phalangea...	ORPHA:287
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia, Tetralogy of Fallot	ORPHA:306542
Cutis Laxa, Autosomal Dominant 1	Uterine prolapse	OMIM:123700
Microphthalmia, Syndromic 1	Microphthalmia, Hydroureter, Hypospadias, Anophthalmia, Renal hypoplasia, Bicuspid aortic valve, ...	OMIM:309800
Neuroocular Syndrome	Microphthalmia, Patent foramen ovale, Hypoplasia of the fovea, Lens coloboma	OMIM:619539
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Monosomy 13Q14	Microphthalmia	ORPHA:1587
Aneurysm-Osteoarthritis Syndrome	Camptodactyly of finger, Uterine prolapse, Protrusio acetabuli, Arachnodactyly, Osteoarthritis of...	ORPHA:284984
Frontofacionasal Dysplasia	Microphthalmia	OMIM:229400
Holoprosencephaly 2	Microphthalmia, Anterior pituitary agenesis, Single ventricle	OMIM:157170
Pallister-Killian Syndrome	Aplasia of the upper vagina, Rhizomelia, Hypospadias, Camptodactyly of 2nd-5th fingers, Clinodact...	OMIM:601803
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Precocious puberty, Uterine prolapse, Cryptorchidism, Hip dysplasia	ORPHA:438213
Craniofacial Microsomia 1	Microphthalmia, Ectopic kidney, Anophthalmia, Vesicoureteral reflux, Ureteropelvic junction obstr...	OMIM:164210
Loeys-Dietz Syndrome 3	Camptodactyly, Uterine prolapse, Protrusio acetabuli, Arachnodactyly, Cystocele, Talipes equinovarus	OMIM:613795
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Microphthalmia, Hypoplasia of the iris	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 spermatogenesis defect	Mical2^em1(IMPC)Tcp	HOM	Late adult
Testis - MPATH pathological process term dysplasia	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	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.

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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^{tm42371(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Mical2^{tm2a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
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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