Gene Summary

Name:
exportin 4
Synonyms:
B430309A01Rik

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
preweaning lethality, incomplete penetrance Xpo4em1(IMPC)Tcp HOM   Early adult 0.00
microphthalmia Xpo4em1(IMPC)Tcp HET Early adult 0.00
abnormal retina morphology Xpo4em1(IMPC)Tcp HET Early adult 1.66×10-06
edema Xpo4em1(IMPC)Tcp HOM E18.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.

X-ray

XRay Images Skull Lateral Orientation

13 Images

Gross Pathology and Tissue Collection

Images

13 Images

Eye Morphology

Images Ophthalmoscopy

100 Images

Eye Morphology

Images Slit Lamp

104 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

Electrocardiogram (ECG)

Waveform Image

1 Images

MicroCT E18.5

Embryo reconstruction

8 Images

Gross Morphology Embryo E18.5

Images

10 Images

Human diseases caused by Xpo4 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 Xpo4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Lipedema
Edema OMIM:614103
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... OMIM:618664
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... OMIM:618643
Spermatogenic Failure 51
Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz... OMIM:619177
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Premature Ovarian Failure 12
Macular dystrophy, Microphthalmia OMIM:616947
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 11
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:614822
Spermatogenic Failure 79
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility OMIM:620196
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Microcephalic ... OMIM:301101
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Angioedema, Hereditary, 6
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619363
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration, Microphthalmia OMIM:251700
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Microphthalmia/Coloboma 7
Microphthalmia, Inferior chorioretinal coloboma OMIM:614497
Spermatogenic Failure 24
Short sperm flagella, Microcephalic sperm head, Tapered sperm head, Reduced sperm motility, Coile... OMIM:617959
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 78
Male infertility, Tapered sperm head, Microcephalic sperm head OMIM:620170
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 86
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Drusen, Reticular pigmentary degeneration OMIM:267800
Spermatogenic Failure 38
Male infertility, Abnormal sperm head morphology, Abnormal axonemal organization of respiratory m... OMIM:618433
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Microphthalmia/Coloboma 10
Microphthalmia, Chorioretinal coloboma, Anophthalmia, Optic pit OMIM:616428
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Spermatogenic Failure 5
Male infertility, Macrozoospermia, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia OMIM:616335
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... OMIM:619528
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size, Ambiguous genitalia, Primary gonadal in... ORPHA:98797
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Spermatogenic Failure 8
Oligozoospermia, Cryptozoospermia, Azoospermia OMIM:613957
Spermatogenic Failure 44
Male infertility, Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreas... OMIM:619044
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Microphthalmia, Abnormality of retinal pigmentation ORPHA:1574
Lymphatic Malformation 14
Lymphedema OMIM:620602
Lymphatic Malformation 2
Lymphedema OMIM:611944
Spermatogenic Failure 32
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:619831
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:620356
Macular Degeneration, Age-Related, 13
Macular degeneration, Macular scar, Drusen, Choroidal neovascularization OMIM:615439
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Primar... ORPHA:98798
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620438
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Oligozoospermia, Precocious puberty, Attention deficit hyperactivit... ORPHA:3000
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... ORPHA:399808
Nanophthalmos 4
Optic disc drusen, Microphthalmia OMIM:615972
Retinitis Pigmentosa 36
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610599
Angioedema, Hereditary, 5
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619361
Spinocerebellar Ataxia Type 32
Cognitive impairment, Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:620103
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold OMIM:617572
Spinocerebellar Ataxia 32
Cognitive impairment, Infertility, Testicular atrophy, Azoospermia OMIM:613909
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Chorioretinal coloboma, Anophthalmia OMIM:611638
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:108420
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Exudative Vitreoretinopathy 3
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Retinal degeneration, Microphthalmia, Macular atrophy OMIM:267760
Microphthalmia, Isolated 8
Microphthalmia, True anophthalmia, Anophthalmia, Retinal detachment, Optic nerve hypoplasia, Reti... OMIM:615113
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Spermatogenic Failure 12
Abnormal male germ cell morphology, Infertility, Azoospermia OMIM:615413
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Microphthalmia, Isolated 5
Microphthalmia, Bone spicule pigmentation of the retina, Foveoschisis, Cystoid macular edema, Opt... OMIM:611040
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia, Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opaci... OMIM:305390
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... OMIM:312700
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular at... ORPHA:52901
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism OMIM:261550
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... ORPHA:399805
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm head morphology, Infertility, Cognitive impairment, Decreased testicular size, Red... ORPHA:320391
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Spermatogenic Failure 6
Male infertility, Globozoospermia, Decreased acrosin in sperm head OMIM:102530
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Microphthalmia, Isolated 6
Microphthalmia, Retinal fold OMIM:613517
Sorsby Pseudoinflammatory Fundus Dystrophy
Macular dystrophy, Abnormal fundus autofluorescence imaging, Choroidal neovascularization, Chorio... ORPHA:59181
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Idiopathic Uveal Effusion Syndrome
Microphthalmia, Retinal fold, Exudative retinal detachment, Subretinal fluid ORPHA:209956
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Microphthalmia, Macular exudate, Retinal neovascularization, Chorioretina... ORPHA:891
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua... OMIM:180210
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia, Retinal dystrophy, Retinal detachment, Abnormality of retinal pigmentation, Chori... OMIM:251270
Gombo Syndrome
Microphthalmia OMIM:233270
Morbid Obesity And Spermatogenic Failure
Infertility, Oligozoospermia, Type II diabetes mellitus, Azoospermia OMIM:615703
Foveal Hypoplasia 2
Hypoplasia of the fovea, Optic nerve misrouting, Microphthalmia, Foveal hyperpigmentation OMIM:609218
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Familial Drusen
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... ORPHA:75376
Macular Degeneration, Age-Related, 1
Geographic atrophy, Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, ... OMIM:603075
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormo... OMIM:619949
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Retinal dysplasia OMIM:614830
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Male infertility, Male hypogonadism, Gonadal dysgenesis, Abnormality o... ORPHA:261529
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:616950
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Hypogonadism, Male
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias OMIM:241100
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Macular Dystrophy, Dominant Cystoid
Edema, Cystoid macular edema OMIM:153880
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Microphthalmia, Chorioretinal coloboma, Retinal dystrophy ORPHA:231736
Deleted in azoospermia
Azoospermia OMIM:400003
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Male infertility, Oligozoospermia, Absent vas deferens ORPHA:48
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst... ORPHA:179
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Lymphatic Malformation 8
Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune hydrops fetalis OMIM:618773
Retinitis Pigmentosa 50
Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Rod-cone dystrophy, Opt... OMIM:613194
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Chorioretinal coloboma OMIM:120433
Spermatogenic Failure 28
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... OMIM:618086
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Lymphatic Malformation 3
Lymphedema OMIM:613480
Retinitis Pigmentosa 32
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti... OMIM:609913
47,Xyy Syndrome
Male infertility, Hypospadias, Increased serum testosterone level, Azoospermia, Oligozoospermia, ... ORPHA:8
Adrenal Hypoplasia, Congenital
Delayed puberty, Azoospermia, Adrenal hypoplasia, Oligozoospermia, Precocious puberty, Absence of... OMIM:300200
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia, Retinal dystrophy, Retinal detachment, Chorioretinal coloboma, Buphthalmos, Macul... OMIM:212550
Coats Disease
Retinal detachment, Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Abnormal retinal... ORPHA:190
White Sponge Nevus 2
Edema OMIM:615785
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Kennedy Disease
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy ORPHA:481
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Functioning Gonadotropic Adenoma
Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h... ORPHA:91348
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Retinal dysplasia OMIM:615771
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... OMIM:600059
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615842
Congenital Primary Aphakia
Microphthalmia, Aniridia, Retinal dysplasia, Aplasia/Hypoplasia affecting the anterior segment of... ORPHA:83461
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Rod-cone dystrophy, Retinal coloboma ORPHA:363741
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Microphthalmia, Retinopathy, Macular atrophy, Optic disc pallor OMIM:616171
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Microphthalmia, Retinal detachment, Chorioretinal coloboma ORPHA:1473
Young Syndrome
Azoospermia OMIM:279000
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Infertility, Decre... OMIM:229070
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615841
Lymphatic Malformation 10
Lymphedema OMIM:619369
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Retinal dysplasia ORPHA:324416
Lead Poisoning
Delayed puberty, Decreased male libido, Memory impairment, Infertility, Oligozoospermia, Cognitiv... ORPHA:330015
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin... OMIM:301077
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Vitreoretinochoroidopathy
Microphthalmia, Retinal detachment, Abnormality of chorioretinal pigmentation, Retinal arteriolar... OMIM:193220
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Decreased testicular size,... OMIM:612885
Lymphatic Malformation 9
Predominantly lower limb lymphedema OMIM:619319
Microphthalmia, Syndromic 13
Microphthalmia, Chorioretinal coloboma OMIM:300915
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration OMIM:193230
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat... OMIM:228300
Lymphedema And Cerebral Arteriovenous Anomaly
Lymphedema OMIM:152900
Craniotelencephalic Dysplasia
Optic atrophy, Microphthalmia, Septo-optic dysplasia ORPHA:1528
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:308700
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Microphthalmia OMIM:274270
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... OMIM:614837
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Ciliary Dyskinesia, Primary, 14
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motil... OMIM:613807
Exudative Vitreoretinopathy 1
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo... OMIM:133780
Ciliary Dyskinesia, Primary, 12
Immotile sperm, Abnormal central microtubular pair morphology of respiratory motile cilia, Reduce... OMIM:612650
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Lymphatic Malformation 7
Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc... OMIM:617300
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Male infertility, Immotile sperm, Absent inner dynein arms OMIM:614874
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Androgen Insensitivity, Partial
Absent vas deferens, Azoospermia, Infertility, Bifid scrotum, Male pseudohermaphroditism, Cryptor... OMIM:312300
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Male infertility, Azoospermia OMIM:277180
Cofs Syndrome
Optic atrophy, Microphthalmia, Abnormality of retinal pigmentation ORPHA:1466
Microphthalmia/Coloboma 12
Microphthalmia, Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal colob... OMIM:120200
Mmep Syndrome
Microphthalmia ORPHA:3434
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia OMIM:602390
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Anterior hypopituitarism, Oligozoospermia, Panhypopituitarism, Hyperpit... ORPHA:91351
Ciliary Dyskinesia, Primary, 11
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia OMIM:612649
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ... OMIM:193235
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:614897
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... ORPHA:251510
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u... ORPHA:90797
Norrie Disease
Optic atrophy, Microphthalmia, Retinal dysplasia, Retinal detachment, Hypoplasia of the iris, Bup... OMIM:310600
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Male infertility OMIM:618801
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Joubert Syndrome 22
Microphthalmia, Retinal dysplasia OMIM:615665
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Cat-Eye Syndrome
Microphthalmia, Chorioretinal coloboma ORPHA:195
Hemochromatosis, Type 1
Azoospermia, Impotence, Diabetes mellitus, Amenorrhea, Hypogonadotropic hypogonadism, Testicular ... OMIM:235200
Classic Galactosemia
Delayed puberty, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, M... ORPHA:79239
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Optic nerve hypoplasia, Microphthalmia OMIM:615181
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Increased female libido, Absence of secondary sex characteristics, Hypoplasia of... ORPHA:432
Ciliary Dyskinesia, Primary, 40
Absent outer dynein arms, Infertility, Patent ductus arteriosus, Azoospermia OMIM:618300
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... ORPHA:90793
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Abnormal vitreous humor morphology, Retinal detachment, Exudative retinopathy, Ex... ORPHA:2788
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
Mayer-Rokitansky-K├╝ster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia ORPHA:2578
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Oculopalatocerebral Syndrome
Microphthalmia, Remnants of the hyaloid vascular system OMIM:257910
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Infertility, Oligozoospermia, Increased urinary ... ORPHA:786
Ciliary Dyskinesia, Primary, 15
Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia OMIM:613808
Yellow Nail Syndrome
Lymphedema, Predominantly lower limb lymphedema OMIM:153300
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:308750
Ciliary Dyskinesia, Primary, 22
Absent inner and outer dynein arms, Infertility, Reduced sperm motility OMIM:615444
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Male infertility, Del... ORPHA:99429
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Retinal dystrophy OMIM:613155
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Ciliary Dyskinesia With Defective Radial Spokes
Immotile sperm, Absent respiratory ciliary axoneme radial spokes OMIM:242670
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Myotonic Dystrophy 2
Type II diabetes mellitus, Oligozoospermia, Elevated circulating follicle stimulating hormone lev... OMIM:602668
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites, Chylous asci... OMIM:265300
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Optic disc pallor OMIM:613730
Congenital Toxoplasmosis
Microphthalmia, Abnormality of retinal pigmentation ORPHA:858
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Optic atrophy, Microphthalmia, Retinal detachment, Chorioretinal lacunae, Chorioretinal dysplasia... OMIM:152950
Anterior Segment Dysgenesis 5
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris OMIM:604229
Temtamy Syndrome
Microphthalmia, Chorioretinal coloboma ORPHA:1777
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat... ORPHA:90791
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
Nance-Horan Syndrome
Retinal detachment, Microphthalmia ORPHA:627
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, Decreased serum tes... OMIM:278850
Lissencephaly 8
Optic atrophy, Microphthalmia OMIM:617255
Warburg Micro Syndrome 1
Optic atrophy, Microphthalmia OMIM:600118
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Abnormal testis morphology, Hypogo... ORPHA:85450
Microphthalmia/Coloboma 9
Retinal detachment, Macular coloboma, Microphthalmia OMIM:615145
Persistent Hyperplastic Primary Vitreous
Microphthalmia, Buphthalmos, Remnants of the hyaloid vascular system, Retinal fold, Tractional re... ORPHA:91495
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia, Optic disc pallor OMIM:300887
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Microphthalmia, Retinal dystrophy, Anophthalmia OMIM:610125
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Hypogonadism OMIM:160900
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Autosomal Dominant Keratitis
Bilateral microphthalmos, Aniridia, Hypoplastic iris stroma, Hypoplasia of the fovea, Macular hyp... ORPHA:2334
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Chorioretinal coloboma, Retinal dystrophy, Anophthalmia ORPHA:139471
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Microphthalmia OMIM:613153
Oculoauricular Syndrome
Microphakia, Microphthalmia, Retinal detachment, Chorioretinal atrophy, Retinal coloboma, Cone/co... OMIM:612109
Gapo Syndrome
Amenorrhea, Dysmenorrhea, Oligozoospermia, Hypogonadism ORPHA:2067
Congenital Rubella Syndrome
Microphthalmia, Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the iris ORPHA:290
Pierpont Syndrome
Microphthalmia ORPHA:487825
46,Xx Sex Reversal 1
Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis... OMIM:400045
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Unilateral microphthalmos OMIM:615085
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Spondylo-Ocular Syndrome
Retinal detachment, Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Walker-Warburg Syndrome
Optic atrophy, Microphthalmia, Retinal dystrophy, Retinal dysplasia, Retinal detachment, Anophtha... ORPHA:899
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Pierpont Syndrome
Microphthalmia OMIM:602342
Symptomatic Form Of Hfe-Related Hemochromatosis
Erectile dysfunction, Infertility, Decreased libido, Testicular atrophy, Hypothyroidism, Amenorrh... ORPHA:465508
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Parathyroid agenesis, Congenital hypoparathyroidism ORPHA:2239
Aarskog-Scott Syndrome
Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve... OMIM:305400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Retinal degeneration, Microphthalmia, Abnormally large globe OMIM:615249
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno... ORPHA:95699
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microphthalmia, Buphthalmos, Retinal nonattachment, Remnants of the hyaloid vascular system, Phth... OMIM:221900
Ciliary Dyskinesia, Primary, 19
Absent inner and outer dynein arms, Male infertility OMIM:614935
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Carney Complex
Ductal carcinoma in situ, Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Ovaria... ORPHA:1359
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, male, Bifid scrotum, Hypospadias, Azoospermia, Urogenital s... ORPHA:1772
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia ORPHA:48431
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Pelvis-Shoulder Dysplasia
Microphthalmia, Optic disc coloboma OMIM:169550
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Retinal detachment, Hypopigmentation of the fundus, Microphthalmia ORPHA:163649
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hy... ORPHA:91
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Optic nerve hypoplasia, Microphthalmia, Retinal detachment ORPHA:370959
Papillorenal Syndrome
Microphthalmia, Retinal detachment, Macular degeneration, Chorioretinal atrophy, Retinal coloboma... OMIM:120330
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Breast hypoplasia, Diabetes mellitus, Oligozoospermia, Clitoral hypoplasia OMIM:614813
Trisomy 13
Optic atrophy, Microphthalmia, Anophthalmia, Abnormal retinal vascular morphology, Aplasia/Hypopl... ORPHA:3378
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Otodental Syndrome
Microphthalmia, Lens coloboma, Retinal coloboma ORPHA:2791
Anterior Segment Dysgenesis 2
Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia OMIM:610256
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia, Retinal pigment epithelial mottling OMIM:614105
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Congenital Disorder Of Glycosylation, Type Iq
Optic atrophy, Microphthalmia OMIM:612379
Adams-Oliver Syndrome 2
Optic atrophy, Microphthalmia OMIM:614219
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Temtamy Syndrome
Microphthalmia, Chorioretinal coloboma OMIM:218340
Refsum Disease
Retinopathy, Microphthalmia, Abnormality of retinal pigmentation ORPHA:773
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Wolfram Syndrome 1
Hypothyroidism, Diabetes mellitus, Testicular atrophy, Diabetes insipidus OMIM:222300
Curry-Jones Syndrome
Microphthalmia, Optic disc coloboma ORPHA:1553
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Bresek Syndrome
Optic nerve hypoplasia, Microphthalmia ORPHA:85284
Pierson Syndrome
Microphthalmia, Hypoplasia of the ciliary body, Retinal detachment, Remnants of the hyaloid vascu... OMIM:609049
Bloom Syndrome
Premature ovarian insufficiency, Male infertility, Azoospermia, Oligozoospermia, Diabetes mellitus ORPHA:125
Kapur-Toriello Syndrome
Microphthalmia, Retinal coloboma ORPHA:2328
Rere-Related Neurodevelopmental Syndrome
Optic atrophy, Microphthalmia, Chorioretinal coloboma ORPHA:494344
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Retinal thinning, Microphthalmia, Retinal atrophy, Cone/cone-rod dystrophy, Abnormality of retina... ORPHA:85167
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia, Retinal dystrophy OMIM:616538
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Micro Syndrome
Optic atrophy, Microphthalmia, Abnormality of retinal pigmentation, Retinal coloboma ORPHA:2510
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Retinal thinning, Microphthalmia, Abnormality of macular pigmentation, Retinal atrophy, Cone/cone... OMIM:608940
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am... OMIM:157640
Baraitser-Winter Syndrome 1
Microphthalmia, Chorioretinal coloboma OMIM:243310
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Seckel Syndrome 2
Microphthalmia OMIM:606744
Neurooculocardiogenitourinary Syndrome
Microphthalmia OMIM:618652
Coccidioidomycosis
Abnormality of the female genitalia, Pancreatitis, Abnormality of the endocrine system, Cognitive... ORPHA:228123
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Microphthalmia, Pigmentary retinopathy OMIM:610651
Meckel Syndrome, Type 5
Microphthalmia OMIM:611561
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia OMIM:610756
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microphthalmia, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Remnants of the hy... OMIM:614643
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Bilateral microphthalmos OMIM:607597
Rodrigues Blindness
Microphthalmia OMIM:268320
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Microphthalmia, Remnants of the hyaloid vascular system ORPHA:2714
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Warburg Micro Syndrome 4
Optic atrophy, Microphthalmia OMIM:615663
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Microphthalmia OMIM:301108
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Microphthalmia, Retinal detachment, Retinal dysplasia OMIM:253800
Joubert Syndrome 37
Microphthalmia OMIM:619185
Multiple Benign Circumferential Skin Creases On Limbs
Retinopathy, Microphthalmia ORPHA:2505
Joubert Syndrome 14
Optic atrophy, Microphthalmia, Morning glory anomaly OMIM:614424
Ritscher-Schinzel Syndrome 3
Microphthalmia, Chorioretinal coloboma OMIM:619135
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Monosomy 18P
Microphthalmia ORPHA:1598
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma OMIM:618914
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Hypospadias, Pancreatic hypoplasia, Bicornuate uterus, Atre... OMIM:137920
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Retinal coloboma OMIM:618571
Oculofaciocardiodental Syndrome
Retinal detachment, Microphthalmia ORPHA:2712
Phace Association
Optic atrophy, Optic nerve hypoplasia, Microphthalmia, Increased retinal vascularity OMIM:606519
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Optic atrophy, Microphthalmia, Retinal dysplasia, Retinal dystrophy, Retinal detachment, Anophtha... ORPHA:2526
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia OMIM:618494
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Trichothiodystrophy 4, Nonphotosensitive
Optic atrophy, Microphthalmia OMIM:234050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Microphthalmia, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Ret... OMIM:236670
Warburg Micro Syndrome 3
Optic atrophy, Microphthalmia OMIM:614222
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Pancreatic cysts, Reduced sperm motility ORPHA:730
Moebius Syndrome
Microphthalmia OMIM:157900
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia ORPHA:77298
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Microphthalmia OMIM:609053
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Male infertility OMIM:244400
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Ocular albinism ORPHA:1352
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos, Abnormal retinal morphology OMIM:610758
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Microphthalmia, Septo-optic dysplasia ORPHA:3301
Kapur-Toriello Syndrome
Microphthalmia, Retinal coloboma OMIM:244300
Gracile Bone Dysplasia
Microphthalmia, Aniridia OMIM:602361
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia ORPHA:228390
Kenny-Caffey Syndrome, Type 2
Retinal calcification, Papilledema, Microphthalmia OMIM:127000
Joubert Syndrome 2
Microphthalmia, Optic disc coloboma, Chorioretinal coloboma, Retinal dystrophy OMIM:608091
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia ORPHA:2470
Steinert Myotonic Dystrophy
Abnormality of thyroid physiology, Decreased response to growth hormone stimulation test, Hyperin... ORPHA:273
Warburg Micro Syndrome 2
Optic atrophy, Microphthalmia OMIM:614225
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Incontinentia Pigmenti
Optic atrophy, Microphthalmia, Retinal detachment, Retinal vascular proliferation, Retinal hemorr... OMIM:308300
Meckel Syndrome, Type 2
Microphthalmia OMIM:603194
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Microphthalmia, Lenz Type
Microphthalmia, Chorioretinal coloboma, Optic disc coloboma ORPHA:568
Garg-Mishra Progeroid Syndrome
Microphthalmia OMIM:620601
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Congenital Fibrinogen Deficiency
Microphthalmia ORPHA:335
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:2399
Fanconi Anemia, Complementation Group R
Microphthalmia OMIM:617244
Trichothiodystrophy 3, Photosensitive
Microphthalmia OMIM:616395
Cohen Syndrome
Optic atrophy, Microphthalmia, Abnormality of retinal pigmentation, Chorioretinal dystrophy ORPHA:193
Tetrasomy 9P
Polymicrogyria, Infertility, Oligozoospermia, Pachygyria, Absent gallbladder, Lissencephaly, Cryp... ORPHA:3310
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos ORPHA:369891
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism OMIM:227650
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Optic atrophy, Microphthalmia OMIM:618727
Aicardi Syndrome
Optic atrophy, Microphthalmia, Retinal detachment, Abnormality of retinal pigmentation, Chorioret... ORPHA:50
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Meckel Syndrome, Type 4
Microphthalmia OMIM:611134
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Marden-Walker Syndrome
Microphthalmia OMIM:248700
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia, Pigmentary retinopathy OMIM:614230
Incontinentia Pigmenti
Abnormal chorioretinal morphology, Microphthalmia, Retinal detachment, Retinal vascular prolifera... ORPHA:464
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies