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Gene: Xpo4 MGI:1888526

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Gene Summary

Name:
exportin 4
Synonyms:
B430309A01Rik

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
edema Xpo4em1(IMPC)Tcp HOM E18.5 0.00
microphthalmia Xpo4em1(IMPC)Tcp HET Early adult 0.00
preweaning lethality, incomplete penetrance Xpo4em1(IMPC)Tcp HOM   Early adult 0.00
abnormal retina morphology Xpo4em1(IMPC)Tcp HET Early adult 1.66×10-06

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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 Slit Lamp

104 Images

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Gross Pathology and Tissue Collection

Images

13 Images

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Eye Morphology

Images Ophthalmoscopy

100 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E18.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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X-ray

XRay Images Skull Lateral Orientation

13 Images

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Gross Morphology Embryo E18.5

Images

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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Electrocardiogram (ECG)

Waveform Image

1 Images

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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
Retinal dysplasia, Falciform retinal fold OMIM:312550
Lipedema
Edema OMIM:614103
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... OMIM:619177
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Premature Ovarian Failure 12
Macular dystrophy, Microphthalmia OMIM:616947
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... OMIM:301101
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Angioedema, Hereditary, 6
Facial edema, Edema of the dorsum of hands, Angioedema OMIM:619363
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration, Microphthalmia OMIM:251700
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Microphthalmia/Coloboma 7
Inferior chorioretinal coloboma, Microphthalmia OMIM:614497
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... OMIM:617959
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility 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
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology, Microphthalmia ORPHA:35612
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... OMIM:618433
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Microphthalmia/Coloboma 10
Optic pit, Anophthalmia, Chorioretinal coloboma, Microphthalmia OMIM:616428
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
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
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Chorioretinal dysplasia, Microphthalmia OMIM:616335
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ... ORPHA:98797
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 44
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... OMIM:619044
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia ORPHA:1574
Lymphatic Malformation 14
Lymphedema OMIM:620602
Lymphatic Malformation 2
Lymphedema OMIM:611944
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... OMIM:620356
Macular Degeneration, Age-Related, 13
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen OMIM:615439
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Isochromosomy Yq
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... ORPHA:98798
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... OMIM:620438
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Attention deficit hyperactivity disorder, Oligozoospermia, Macroo... ORPHA:3000
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Nanophthalmos 4
Optic disc drusen, Microphthalmia OMIM:615972
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Angioedema, Hereditary, 5
Facial edema, Edema of the dorsum of hands, Angioedema OMIM:619361
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Cognitive impairment, Male infertility ORPHA:276183
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia, Cognitive impairment OMIM:613909
Microphthalmia/Coloboma 5
Chorioretinal coloboma, Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... OMIM:108420
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Exudative Vitreoretinopathy 3
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold OMIM:605750
Microphthalmia, Isolated 8
Hypoplastic optic chiasm, Retinal coloboma, True anophthalmia, Anophthalmia, Retinal detachment, ... OMIM:615113
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Retinal degeneration, Macular atrophy, Microphthalmia OMIM:267760
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat... OMIM:611040
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased cirrculating antimullerian hormone circulation, Male infertility, Bilateral cryptorchidism OMIM:261550
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Autosomal Recessive Spastic Paraplegia Type 46
Decreased testicular size, Infertility, Cognitive impairment, Abnormal sperm head morphology, Red... ORPHA:320391
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Late-Onset Retinal Degeneration
Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-... OMIM:605670
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Microphthalmia, Isolated 6
Retinal fold, Microphthalmia OMIM:613517
Sorsby Pseudoinflammatory Fundus Dystrophy
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... ORPHA:59181
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Edema OMIM:178400
Idiopathic Uveal Effusion Syndrome
Retinal fold, Subretinal fluid, Exudative retinal detachment, Microphthalmia ORPHA:209956
Familial Exudative Vitreoretinopathy
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... ORPHA:891
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Retinopathy, Pericentral Pigmentary, Dominant
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... OMIM:180210
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Abnormality of retinal pigmentation, Retinal detachment, Chorioretinal dysplasia, M... OMIM:251270
Gombo Syndrome
Microphthalmia OMIM:233270
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Type II diabetes mellitus, Oligozoospermia OMIM:615703
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Foveal Hypoplasia 2
Hypoplasia of the fovea, Foveal hyperpigmentation, Optic nerve misrouting, Microphthalmia OMIM:609218
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Macular Degeneration, Age-Related, 1
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... OMIM:603075
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia, Microphthalmia OMIM:614830
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... OMIM:616950
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
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
Retinal dystrophy, Remnants of the hyaloid vascular system, Chorioretinal coloboma, Microphthalmia 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, Absent vas deferens, Oligozoospermia, Male infertility ORPHA:48
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... ORPHA:179
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion OMIM:618773
Retinitis Pigmentosa 50
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Chorioretinal coloboma, Microphthalmia OMIM:120433
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Decre... OMIM:618086
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system 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
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Attention deficit hyperactivity disorder, Micropenis, In... ORPHA:8
Adrenal Hypoplasia, Congenital
Precocious puberty, Absence of pubertal development, Adrenal insufficiency, Primary adrenal insuf... OMIM:300200
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Chorioretinal coloboma, Retinal detachment, Macular atrophy, Microphthalmia, Buphthalmos, Retinal... OMIM:212550
Coats Disease
Abnormal retinal vascular morphology, Retinal detachment, Aplasia/Hypoplasia of the iris, Abnorma... ORPHA:190
White Sponge Nevus 2
Edema OMIM:615785
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Retinal coloboma, Rod-cone dystrophy, Microphthalmia OMIM:601794
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia, Microphthalmia OMIM:615771
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615842
Congenital Primary Aphakia
Optic disc coloboma, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segm... ORPHA:83461
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Retinal coloboma, Rod-cone dystrophy, Microphthalmia ORPHA:363741
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Retinopathy, Macular atrophy, Microphthalmia, 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, Retinal detachment, Chorioretinal coloboma, Microphthalmia 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
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... OMIM:229070
Spermatogenic Failure 13
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615841
Lymphatic Malformation 10
Lymphedema OMIM:619369
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Retinal dysplasia, Microphthalmia ORPHA:324416
Lead Poisoning
Memory impairment, Decreased male libido, Abnormality of the menstrual cycle, Decreased circulati... ORPHA:330015
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... OMIM:301077
Lymphatic Malformation 9
Predominantly lower limb lymphedema OMIM:619319
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Vitreoretinochoroidopathy
Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio... OMIM:193220
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypothyro... OMIM:612885
Microphthalmia, Syndromic 13
Chorioretinal coloboma, Microphthalmia OMIM:300915
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... OMIM:617091
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Retinal dots, Optically empty vitreous OMIM:193230
Lymphedema And Cerebral Arteriovenous Anomaly
Lymphedema OMIM:152900
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Craniotelencephalic Dysplasia
Optic atrophy, Septo-optic dysplasia, Microphthalmia ORPHA:1528
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Hypothalami... OMIM:308700
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Microphthalmia OMIM:274270
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Absence of pubertal development, Azoospermia, Decreased testicular size, Cryptorchidism, Hypogona... OMIM:614837
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a... OMIM:613807
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Reduce... OMIM:612650
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Absent inner dynein arms, Immotile sperm, Male infertility OMIM:614874
Ciliary Dyskinesia, Primary, 26
Infertility, Absent outer dynein arms, Reduced sperm motility OMIM:615500
Androgen Insensitivity, Partial
Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi... OMIM:312300
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Cofs Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia ORPHA:1466
Microphthalmia/Coloboma 12
Chorioretinal coloboma, Optic disc coloboma, Optic nerve aplasia, Remnants of the hyaloid vascula... 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
Hypogonadotropic hypogonadism, Azoospermia, Infertility, Amenorrhea OMIM:602390
Pituitary Dermoid And Epidermoid Cysts
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Amenorrhea, Hype... ORPHA:91351
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ... OMIM:614897
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Norrie Disease
Retinal fold, Optic atrophy, Hypoplasia of the iris, Retinal detachment, Microphthalmia, Buphthal... OMIM:310600
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... ORPHA:90797
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Joubert Syndrome 22
Retinal dysplasia, Microphthalmia OMIM:615665
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Cat-Eye Syndrome
Chorioretinal coloboma, Microphthalmia ORPHA:195
Hemochromatosis, Type 1
Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence, Diabetes m... OMIM:235200
Classic Galactosemia
Mental deterioration, Cryptorchidism, Attention deficit hyperactivity disorder, Decreased fertili... ORPHA:79239
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Retinal detachment, Microphthalmia OMIM:615181
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Absence of secondary sex characteristics, Absence of pubertal development, Non... ORPHA:432
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia, Patent ductus arteriosus, Absent outer dynein arms OMIM:618300
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Osteoporosis-Pseudoglioma Syndrome
Exudative vitreoretinopathy, Abnormal vitreous humor morphology, Retinal detachment, Exudative re... ORPHA:2788
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Microphthalmia OMIM:257910
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Yellow Nail Syndrome
Predominantly lower limb lymphedema, Lymphedema OMIM:153300
Ciliary Dyskinesia, Primary, 15
Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia OMIM:613808
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... OMIM:308750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Retinal dystrophy, Microphthalmia OMIM:613155
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
Ciliary Dyskinesia, Primary, 22
Infertility, Absent inner and outer dynein arms, Reduced sperm motility OMIM:615444
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
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
Hypogonadism, Type II diabetes mellitus, Oligozoospermia, Elevated circulating follicle stimulati... OMIM:602668
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali... OMIM:265300
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Microphthalmia OMIM:613730
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Microphthalmia 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, Retinal detachment, Chorioretinal lacunae, Chorioretinal dysplasia, Microphthalmia... OMIM:152950
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris OMIM:604229
Temtamy Syndrome
Chorioretinal coloboma, Microphthalmia ORPHA:1777
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... 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
Small scrotum, Elevated circulating luteinizing hormone level, Perineal hypospadias, Bifid scrotu... OMIM:278850
Lissencephaly 8
Optic atrophy, Microphthalmia OMIM:617255
Warburg Micro Syndrome 1
Optic atrophy, Microphthalmia OMIM:600118
Hereditary Amyloidosis With Primary Renal Involvement
Hypogonadism, Oligozoospermia, Abnormal testis morphology, Primary testicular failure, Male infer... ORPHA:85450
Microphthalmia/Coloboma 9
Retinal detachment, Macular coloboma, Microphthalmia OMIM:615145
Persistent Hyperplastic Primary Vitreous
Retinal fold, Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Phthi... ORPHA:91495
Linear Skin Defects With Multiple Congenital Anomalies 2
Optic disc pallor, Microphthalmia OMIM:300887
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Anophthalmia, Retinal dystrophy, Microphthalmia OMIM:610125
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia OMIM:164180
Autosomal Dominant Keratitis
Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris... ORPHA:2334
Microphthalmia With Brain And Digit Anomalies
Retinal dystrophy, Anophthalmia, Chorioretinal coloboma, Microphthalmia ORPHA:139471
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Microphthalmia OMIM:613153
Oculoauricular Syndrome
Chorioretinal coloboma, Retinal coloboma, Chorioretinal atrophy, Cone/cone-rod dystrophy, Macular... OMIM:612109
Gapo Syndrome
Hypogonadism, Amenorrhea, Oligozoospermia, Dysmenorrhea ORPHA:2067
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:290
Pierpont Syndrome
Microphthalmia ORPHA:487825
46,Xx Sex Reversal 1
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro... 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, Aplasia/Hypoplasia of the lens, Microphthalmia ORPHA:85194
Walker-Warburg Syndrome
Optic atrophy, Abnormal optic nerve morphology, Anophthalmia, Retinal detachment, Chorioretinal d... 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
Decreased serum testosterone concentration, Decreased libido, Hypogonadotropic hypogonadism, Amen... ORPHA:465508
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility ORPHA:2239
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost... OMIM:305400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Retinal degeneration, Abnormally large globe, Microphthalmia OMIM:615249
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De... ORPHA:95699
Primary Ciliary Dyskinesia
Abnormal sperm motility, Female infertility, Male infertility ORPHA:244
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia OMIM:613885
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Phthisis bulbi, Buphthalmos, Remnants of the hyaloid vascular system, Micr... OMIM:221900
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... 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
Optic disc coloboma, Microphthalmia 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
Unilateral microphthalmos, Bilateral 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
Female infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, Type II diabetes m... ORPHA:91
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Optic nerve hypoplasia, Retinal detachment, Microphthalmia ORPHA:370959
Papillorenal Syndrome
Macular degeneration, Optic disc coloboma, Retinal coloboma, Chorioretinal atrophy, Macular hyper... OMIM:120330
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Clitoral hypoplasia, Breast hypoplasia, Diabetes mellitus, Oligozoospermia OMIM:614813
Trisomy 13
Optic atrophy, Aplasia/Hypoplasia of the iris, Anophthalmia, Abnormal retinal vascular morphology... ORPHA:3378
Lymphatic Malformation 6
Facial edema, Generalized edema, Chylothorax, Lymphedema, Ascites, Genital edema, Pleural effusio... OMIM:616843
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Otodental Syndrome
Lens coloboma, Retinal coloboma, Microphthalmia ORPHA:2791
Anterior Segment Dysgenesis 2
Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia OMIM:610256
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Retinal pigment epithelial mottling, Microphthalmia 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
Chorioretinal coloboma, Microphthalmia OMIM:218340
Refsum Disease
Abnormality of retinal pigmentation, Retinopathy, Microphthalmia ORPHA:773
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Wolfram Syndrome 1
Testicular atrophy, Hypothyroidism, Diabetes mellitus, Diabetes insipidus OMIM:222300
Curry-Jones Syndrome
Optic disc coloboma, Microphthalmia ORPHA:1553
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Bresek Syndrome
Optic nerve hypoplasia, Microphthalmia ORPHA:85284
Pierson Syndrome
Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypoplasia of the iris, Rieger anoma... OMIM:609049
Kapur-Toriello Syndrome
Retinal coloboma, Microphthalmia ORPHA:2328
Bloom Syndrome
Azoospermia, Oligozoospermia, Premature ovarian insufficiency, Diabetes mellitus, Male infertility ORPHA:125
Rere-Related Neurodevelopmental Syndrome
Optic atrophy, Chorioretinal coloboma, Microphthalmia ORPHA:494344
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Retinal thinning, Abnormality of retinal pigmentation, Cone/cone-rod dystrophy, Retinal atrophy, ... ORPHA:85167
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Retinal dystrophy, Microphthalmia OMIM:616538
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Micro Syndrome
Optic atrophy, Retinal coloboma, Abnormality of retinal pigmentation, Microphthalmia ORPHA:2510
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Abnormality of macular pigmentation, Optic disc coloboma, Retinal thinning, Cone/cone-rod dystrop... OMIM:608940
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy... OMIM:157640
Baraitser-Winter Syndrome 1
Chorioretinal coloboma, Microphthalmia OMIM:243310
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Seckel Syndrome 2
Microphthalmia OMIM:606744
Neurooculocardiogenitourinary Syndrome
Microphthalmia OMIM:618652
Coccidioidomycosis
Abnormality of the male genitalia, Abnormality of the female genitalia, Pancreatitis, Cognitive i... ORPHA:228123
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Pigmentary retinopathy, Microphthalmia 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
Retinal detachment, Remnants of the hyaloid vascular system, Microphthalmia, Retinal dysplasia, O... OMIM:614643
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Rodrigues Blindness
Microphthalmia OMIM:268320
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system, Microphthalmia 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, Retinal dysplasia, Retinal detachment, Microphthalmia OMIM:253800
Multiple Benign Circumferential Skin Creases On Limbs
Retinopathy, Microphthalmia ORPHA:2505
Joubert Syndrome 37
Microphthalmia OMIM:619185
Joubert Syndrome 14
Optic atrophy, Morning glory anomaly, Microphthalmia OMIM:614424
Ritscher-Schinzel Syndrome 3
Chorioretinal coloboma, Microphthalmia OMIM:619135
Hydrolethalus
Anophthalmia, Microphthalmia ORPHA:2189
Monosomy 18P
Microphthalmia ORPHA:1598
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lens coloboma, Microphthalmia OMIM:618914
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Solitary Median Maxillary Central Incisor
Anophthalmia, Microphthalmia OMIM:147250
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, P... OMIM:137920
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Retinal coloboma, Microphthalmia OMIM:618571
Oculofaciocardiodental Syndrome
Retinal detachment, Microphthalmia ORPHA:2712
Phace Association
Optic atrophy, Optic nerve hypoplasia, Increased retinal vascularity, Microphthalmia OMIM:606519
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Optic atrophy, Abnormal optic nerve morphology, Anophthalmia, Retinopathy, Abnormality of retinal... 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, Retinal atrophy, Retinal detachment, Microphthalmia, Buphthalmos, Retinal dysplasi... OMIM:236670
Warburg Micro Syndrome 3
Optic atrophy, Microphthalmia OMIM:614222
Moebius Syndrome
Microphthalmia OMIM:157900
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Pancreatic cysts, Reduced sperm motility ORPHA:730
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Microphthalmia 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
Ocular albinism, Microphthalmia ORPHA:1352
Cerebrooculofacioskeletal Syndrome 4
Abnormal retinal morphology, Bilateral microphthalmos OMIM:610758
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Septo-optic dysplasia, Microphthalmia ORPHA:3301
Kapur-Toriello Syndrome
Retinal coloboma, Microphthalmia OMIM:244300
Gracile Bone Dysplasia
Aniridia, Microphthalmia 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
Retinal dystrophy, Optic disc coloboma, Chorioretinal coloboma, Microphthalmia OMIM:608091
Matthew-Wood Syndrome
Anophthalmia, Microphthalmia ORPHA:2470
Steinert Myotonic Dystrophy
Mental deterioration, Male hypogonadism, Cholelithiasis, Impotence, Decreased response to growth ... ORPHA:273
Warburg Micro Syndrome 2
Optic atrophy, Microphthalmia OMIM:614225
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Meckel Syndrome, Type 2
Microphthalmia OMIM:603194
Incontinentia Pigmenti
Optic atrophy, Hypoplasia of the fovea, Retinal vascular proliferation, Retinal detachment, Micro... OMIM:308300
Microphthalmia, Lenz Type
Optic disc coloboma, Chorioretinal coloboma, Microphthalmia ORPHA:568
Microphthalmia With Limb Anomalies
Anophthalmia, Microphthalmia OMIM:206920
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
Chorioretinal dystrophy, Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia ORPHA:193
Tetrasomy 9P
Polymicrogyria, Pachygyria, Absent gallbladder, Cryptorchidism, Oligozoospermia, Micropenis, Infe... 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
Hypergonadotropic hypogonadism, Cryptorchidism, Male infertility 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, Optic disc coloboma, Chorioretinal coloboma, Abnormality of retinal pigmentation, ... 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
Pigmentary retinopathy, Microphthalmia OMIM:614230
Incontinentia Pigmenti
Retinal vascular proliferation, Retinal detachment, Microphthalmia, Retinal hemorrhage, Abnormal ... ORPHA:464
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Steinfeld Syndrome
Retinal coloboma, Microphthalmia OMIM:184705
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Vacterl With Hydrocephalus
Abnormal optic nerve morphology, Anophthalmia, Microphthalmia ORPHA:3412
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia OMIM:241410
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Stromme Syndrome
Optic nerve hypoplasia, Retinal vascular tortuosity, Microphthalmia OMIM:243605
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Optic atrophy, Hypoplasia of the retina, Retinal degeneration, Retinal atrophy, Microphthalmia, B... OMIM:253280
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia OMIM:616449
Duane-Radial Ray Syndrome
Retinal coloboma, Optic disc hypoplasia, Microphthalmia OMIM:607323
Osteoporosis-Pseudoglioma Syndrome
Vitreoretinopathy, Phthisis bulbi, Exudative retinopathy, Microphthalmia, Retinal calcification OMIM:259770
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos, Retinal coloboma ORPHA:2839
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia OMIM:613001
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia ORPHA:2728
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Martsolf Syndrome 1
Microphthalmia OMIM:212720
Atelis Syndrome 2
Vitreous hemorrhage, Remnants of the hyaloid vascular system, Microphthalmia OMIM:620185
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Abnormality of retinal pigmentation, Abnormal vitreous humor morphology, Chorioreti... ORPHA:2556
Cockayne Syndrome Type 3
Retinal degeneration, Retinal atrophy, Microphthalmia, Retinal hemorrhage, Optic disc pallor, Ret... ORPHA:90324
Adams-Oliver Syndrome
Microphthalmia ORPHA:974
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Optic atrophy, Microphthalmia OMIM:251300
Momo Syndrome
Bilateral microphthalmos, Chorioretinal coloboma ORPHA:2563
X-Linked Intellectual Disability, Snyder Type
Testicular atrophy, Abnormality of the Leydig cells, Hypospadias, Cryptorchidism ORPHA:3063
Acrofrontofacionasal Dysostosis 1
Optic atrophy, Microphthalmia OMIM:201180
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia OMIM:619148
Mycophenolate Mofetil Embryopathy
Chorioretinal coloboma, Microphthalmia ORPHA:268249
Jacobsen Syndrome
Macular hypoplasia, Optic atrophy, Chorioretinal coloboma, Microphthalmia OMIM:147791
Microphthalmia, Syndromic 3
Optic nerve aplasia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:206900
Aicardi Syndrome
Optic atrophy, Optic disc coloboma, Retinal detachment, Chorioretinal lacunae, Microphthalmia OMIM:304050
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Cockayne Syndrome
Optic atrophy, Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of retinal pi... ORPHA:191
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Microphthalmia OMIM:615877
Premature Aging Syndrome, Penttinen Type
Hypermyelinated retinal nerve fibers, Microphthalmia OMIM:601812
Hallermann-Streiff Syndrome
Optic disc coloboma, Chorioretinal coloboma, Microphthalmia OMIM:234100
Focal Dermal Hypoplasia
Hypoplasia of the iris, Chorioretinal coloboma, Microphthalmia ORPHA:2092
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia OMIM:613150
Acro-Renal-Ocular Syndrome
Optic disc coloboma, Optic disc hypoplasia, Chorioretinal coloboma, Microphthalmia ORPHA:959
Cat Eye Syndrome
Chorioretinal coloboma, Microphthalmia OMIM:115470
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
2Q31.1 Microdeletion Syndrome
Optic disc coloboma, Microphthalmia ORPHA:251014
Holoprosencephaly
Optic atrophy, Chorioretinal coloboma, Retinopathy, Anophthalmia, Microphthalmia ORPHA:2162
Frontonasal Dysplasia 2
Microphthalmia OMIM:613451
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Monosomy 9Q22.3
Retinopathy, Microphthalmia ORPHA:77301
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia OMIM:302960
Cystinosis, Nephropathic
Male hypogonadism, Exocrine pancreatic insufficiency, Primary hypothyroidism, Hypohidrosis, Delay... OMIM:219800
Frontorhiny
Microphthalmia ORPHA:391474
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Dubowitz Syndrome
Hypoplasia of the iris, Rod-cone dystrophy, Microphthalmia OMIM:223370
Trisomy 18
Abnormality of retinal pigmentation, Microphthalmia ORPHA:3380
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
3Q29 Microdeletion Syndrome
Microphthalmia ORPHA:65286
Mosaic Trisomy 1
Microphthalmia ORPHA:1692
Meckel Syndrome
Optic atrophy, Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia, Abnormal chorioretin... ORPHA:564
Mosaic Trisomy 9
Microphthalmia ORPHA:99776
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Abnormal optic disc morphology, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia ORPHA:508498
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia OMIM:300952
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia ORPHA:464738
Galloway-Mowat Syndrome 3
Microphthalmia OMIM:617729
Pseudotrisomy 13 Syndrome
Microphthalmia OMIM:264480
Fanconi Anemia, Complementation Group N
Microphthalmia OMIM:610832
Fryns Syndrome
Microphthalmia ORPHA:2059
Meckel Syndrome 14
Microphthalmia OMIM:619879
Fanconi Anemia, Complementation Group F
Microphthalmia OMIM:603467
Histiocytoid Cardiomyopathy
Optic atrophy, Congenital aphakia, Microphthalmia ORPHA:137675
Ohdo Syndrome, X-Linked
Microphthalmia OMIM:300895
Linear Skin Defects With Multiple Congenital Anomalies 1
Pigmentary retinopathy, Microphthalmia OMIM:309801
Phace Syndrome
Retinal vascular malformation, Lens coloboma, Optic nerve hypoplasia, Microphthalmia ORPHA:42775
Isolated Arrhinia
Microphthalmia ORPHA:1134
Norrie Disease
Optic atrophy, Hypoplasia of the iris, Abnormal vitreous humor morphology, Abnormal retinal vascu... ORPHA:649
Alström Syndrome
Testicular fibrosis, Decreased circulating T4 concentration, Hyperinsulinemia, Type II diabetes m... ORPHA:64
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Microphthalmia ORPHA:2250
Cockayne Syndrome B
Hypoplasia of the iris, Pigmentary retinopathy, Optic atrophy, Microphthalmia OMIM:133540
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Cystic Fibrosis
Exocrine pancreatic insufficiency, Pancreatitis, Male infertility OMIM:219700
1Q21.1 Microdeletion Syndrome
Microphthalmia ORPHA:250989
Trichothiodystrophy
Macular degeneration, Bilateral microphthalmos, Retinal degeneration ORPHA:33364
Fanconi Anemia, Complementation Group E
Microphthalmia OMIM:600901
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Unilateral microphthalmos OMIM:618874
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia ORPHA:364577
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Lymphedema-Distichiasis Syndrome
Microphthalmia OMIM:153400
Cousin Syndrome
Microphthalmia OMIM:260660
Autosomal Dominant Kenny-Caffey Syndrome
Retinal calcification, Papilledema, Bilateral microphthalmos ORPHA:93325
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microphthalmia OMIM:616300
Cystic Fibrosis
Exocrine pancreatic insufficiency, Absent vas deferens, Male infertility ORPHA:586
Microphthalmia With Limb Anomalies
Optic atrophy, True anophthalmia, Microphthalmia ORPHA:1106
Chromosome 13Q14 Deletion Syndrome
Retinoblastoma, Chorioretinal coloboma, Microphthalmia OMIM:613884
Fanconi Anemia, Complementation Group C
Microphthalmia OMIM:227645
Proboscis Lateralis
Optic disc coloboma, Chorioretinal coloboma, Anophthalmia, Microphthalmia, Optic nerve hypoplasia ORPHA:141099
Microphthalmia, Syndromic 2
Anophthalmia, Phthisis bulbi, Retinal detachment, Remnants of the hyaloid vascular system, Microp... OMIM:300166
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Optic atrophy, Microphthalmia OMIM:616975
Pallister-Hall Syndrome
Microphthalmia OMIM:146510
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic disc pallor, Attenuation of retinal blood vessels, Bilateral microphthalmos, Optic nerve hy... ORPHA:468631
Basal Cell Nevus Syndrome 1
Microphthalmia OMIM:109400
Monosomy 13Q14
Retinoblastoma, Microphthalmia ORPHA:1587
Microgastria-Limb Reduction Defect Syndrome
Anophthalmia, Microphthalmia ORPHA:2538
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Microphthalmia, Syndromic 9
Anophthalmia, Bilateral microphthalmos OMIM:601186
Oculocerebrorenal Syndrome Of Lowe
Buphthalmos, Chorioretinal dysplasia, Microphthalmia ORPHA:534
Noonan Syndrome 1
Hypogonadism, Cryptorchidism, Hypospadias, Patent ductus arteriosus, Male infertility OMIM:163950
Hallermann-Streiff Syndrome
Microphthalmia ORPHA:2108
Fanconi Anemia, Complementation Group L
Microphthalmia OMIM:614083
Fanconi Anemia, Complementation Group D2
Microphthalmia OMIM:227646
Rothmund-Thomson Syndrome, Type 2
Microphthalmia OMIM:268400
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia ORPHA:1052
Fraser Syndrome 2
Microphthalmia OMIM:617666
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypopigmentation of the fundus, Hypoplasia of the iris, Retinal arteriolar tortuosity, Peripapill... OMIM:175780
22Q11.2 Deletion Syndrome
Retinal arteriolar tortuosity, Optic atrophy, Microphthalmia ORPHA:567
Bartsocas-Papas Syndrome 1
Microphthalmia OMIM:263650
Treacher-Collins Syndrome
Microphthalmia ORPHA:861
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia ORPHA:2166
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia OMIM:617925
Traboulsi Syndrome
Microphthalmia OMIM:601552
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia OMIM:620005
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Optic disc coloboma, Microphthalmia OMIM:620186
Charge Syndrome
Optic atrophy, Anophthalmia, Chorioretinal coloboma, Microphthalmia ORPHA:138
Holoprosencephaly 7
Bilateral microphthalmos, Microphthalmia OMIM:610828
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia OMIM:609945
Fanconi Anemia
Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:84
Mend Syndrome
Microphthalmia ORPHA:401973
Monosomy 9P
Microphthalmia ORPHA:261112
Holoprosencephaly 9
Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:610829
Focal Dermal Hypoplasia
Optic atrophy, Chorioretinal coloboma, Aniridia, Anophthalmia, Microphthalmia OMIM:305600
Myhre Syndrome
Microphthalmia OMIM:139210
Fryns Syndrome
Microphthalmia OMIM:229850
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Roberts Syndrome
Microphthalmia ORPHA:3103
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia ORPHA:3186
Degcags Syndrome
Microphthalmia OMIM:619488
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia OMIM:616734
Neuroocular Syndrome 1
Hypoplasia of the fovea, Lens coloboma, Remnants of the hyaloid vascular system, Microphthalmia OMIM:619539
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia OMIM:608670
Meckel Syndrome, Type 1
Microphthalmia OMIM:249000
Frontofacionasal Dysplasia
Microphthalmia OMIM:229400
Fontaine Progeroid Syndrome
Microphthalmia OMIM:612289
Yunis-Varon Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:3472
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Chorioretinal coloboma, Microphthalmia OMIM:157170
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia ORPHA:306542
Renpenning Syndrome 1
Microphthalmia OMIM:309500
Charge Syndrome
Unilateral microphthalmos, Retinal coloboma, Anophthalmia, Microphthalmia OMIM:214800
Microphthalmia, Syndromic 6
Anophthalmia, Retinal dystrophy, Microphthalmia OMIM:607932
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia OMIM:612474
Tetraamelia Syndrome 1
Microphthalmia OMIM:273395
Adams-Oliver Syndrome 1
Microphthalmia OMIM:100300
Branchiooculofacial Syndrome
Retinal coloboma, Anophthalmia, Microphthalmia OMIM:113620
8Q24.3 Microdeletion Syndrome
Retinal coloboma, Bilateral microphthalmos, Optic nerve hypoplasia ORPHA:508488
Fraser Syndrome
Anophthalmia, Microphthalmia ORPHA:2052
Neu-Laxova Syndrome 1
Microphthalmia OMIM:256520
Witteveen-Kolk Syndrome
Microphthalmia OMIM:613406
Lowe Oculocerebrorenal Syndrome
Microphthalmia OMIM:309000
Mowat-Wilson Syndrome
Chorioretinal coloboma, Microphthalmia OMIM:235730
Fraser Syndrome 1
Anophthalmia, Bilateral microphthalmos OMIM:219000
Holoprosencephaly 1
Microphthalmia OMIM:236100
Pallister-Hall Syndrome
Microphthalmia ORPHA:672
Townes-Brocks Syndrome
Chorioretinal coloboma, Microphthalmia ORPHA:857
Treacher Collins Syndrome 1
Bilateral microphthalmos OMIM:154500
Hydrolethalus Syndrome 1
Microphthalmia OMIM:236680
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Optic atrophy, Retinal coloboma, Microphthalmia ORPHA:261552
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Retinal coloboma, Microphthalmia ORPHA:261537
Microphthalmia, Syndromic 1
Optic disc coloboma, Anophthalmia, Chorioretinal coloboma, Microphthalmia OMIM:309800
Mowat-Wilson Syndrome
Retinal coloboma, Microphthalmia ORPHA:2152
Roberts-Sc Phocomelia Syndrome
Microphthalmia OMIM:268300
Craniofacial Microsomia 1
Anophthalmia, Microphthalmia OMIM:164210

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Xpo4

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Xpo4.

No publications found that use IMPC mice or data for Xpo4.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Xpo4tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Xpo4tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Xpo4em1(IMPC)Tcp Exon Deletion Mice

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