Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
small kidney Mical2em1(IMPC)Tcp HOM Late adult 0.00
small heart Mical2em1(IMPC)Tcp HOM Late adult 0.00
enlarged lymph nodes Mical2em1(IMPC)Tcp HOM Early adult 0.00
long tibia Mical2em1(IMPC)Tcp HOM Early adult 4.25×10-05
abnormal ovary morphology Mical2em1(IMPC)Tcp HOM Late adult 0.00
enlarged urinary bladder Mical2em1(IMPC)Tcp HOM Late adult 0.00
abnormal skin morphology Mical2em1(IMPC)Tcp HOM Early adult 0.00
enlarged uterus Mical2em1(IMPC)Tcp HOM Early adult 0.00
abnormal seminal vesicle morphology Mical2em1(IMPC)Tcp HOM Late adult 0.00
decreased prepulse inhibition Mical2em1(IMPC)Tcp HOM   Early adult 1.88×10-05
microphthalmia Mical2em1(IMPC)Tcp HOM Late adult 0.00
decreased lean body mass Mical2em1(IMPC)Tcp HOM Late adult 3.64×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

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

Histopathology

Images

19 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Gross Pathology and Tissue Collection

Images

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

18 Images

Eye Morphology

Images Ophthalmoscopy

5 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Histopathology

Images

4 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

Electrocardiogram (ECG)

Waveform Image

4 Images

Combined SHIRPA and Dysmorphology

Images

4 Images

Immunophenotyping

Panel A FCS file(s)

7 Images

Immunophenotyping

Panel B FCS file(s)

7 Images

Human diseases caused by Mical2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

The table below shows human diseases predicted to be associated to Mical2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
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