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-Küster-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 |
|
Microphthalmia |
OMIM:620098 |
Steinfeld Syndrome |
|
Microphthalmia, Retinal coloboma |
OMIM:184705 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia |
OMIM:612530 |
Vacterl With Hydrocephalus |
|
Microphthalmia, Abnormal optic nerve morphology, Anophthalmia |
ORPHA:3412 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia |
ORPHA:1806 |
3Q29 Microduplication Syndrome |
|
Microphthalmia, Aniridia |
ORPHA:251038 |
Stromme Syndrome |
|
Optic nerve hypoplasia, Microphthalmia, Retinal vascular tortuosity |
OMIM:243605 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Optic atrophy, Microphthalmia, Retinal dysplasia, Retinal atrophy, Hypoplasia of the retina, Buph... |
OMIM:253280 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Microphthalmia |
OMIM:241410 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia |
OMIM:616449 |
Nance-Horan Syndrome |
|
Microphthalmia |
OMIM:302350 |
Duane-Radial Ray Syndrome |
|
Microphthalmia, Optic disc hypoplasia, Retinal coloboma |
OMIM:607323 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Retinal calcification, Vitreoretinopathy, Exudative retinopathy, Phthisis bulbi |
OMIM:259770 |
Pelvis-Shoulder Dysplasia |
|
Bilateral microphthalmos, Retinal coloboma |
ORPHA:2839 |
Encephalocraniocutaneous Lipomatosis |
|
Microphthalmia, Hypoplasia of the iris |
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, Microphthalmia, Remnants of the hyaloid vascular system |
OMIM:620185 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Microphthalmia, Abnormal vitreous humor morphology, Retinal dysplasia, Retinal dystrophy, Anophth... |
ORPHA:2556 |
Cockayne Syndrome Type 3 |
|
Microphthalmia, Retinal dystrophy, Retinal atrophy, Retinal hemorrhage, Retinal degeneration, Opt... |
ORPHA:90324 |
Adams-Oliver Syndrome |
|
Microphthalmia |
ORPHA:974 |
Galloway-Mowat Syndrome 1 |
|
Optic atrophy, Microphthalmia, Hypoplasia of the iris |
OMIM:251300 |
Momo Syndrome |
|
Bilateral microphthalmos, Chorioretinal coloboma |
ORPHA:2563 |
X-Linked Intellectual Disability, Snyder Type |
|
Cryptorchidism, Testicular atrophy, Abnormality of the Leydig cells, Hypospadias |
ORPHA:3063 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Microphthalmia |
OMIM:619148 |
Acrofrontofacionasal Dysostosis 1 |
|
Optic atrophy, Microphthalmia |
OMIM:201180 |
Mycophenolate Mofetil Embryopathy |
|
Microphthalmia, Chorioretinal coloboma |
ORPHA:268249 |
Jacobsen Syndrome |
|
Optic atrophy, Microphthalmia, Chorioretinal coloboma, Macular hypoplasia |
OMIM:147791 |
Microphthalmia, Syndromic 3 |
|
Optic nerve hypoplasia, Microphthalmia, Optic nerve aplasia, Anophthalmia |
OMIM:206900 |
Aicardi Syndrome |
|
Optic atrophy, Microphthalmia, Retinal detachment, Chorioretinal lacunae, Optic disc coloboma |
OMIM:304050 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microphthalmia |
OMIM:156610 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microphthalmia |
OMIM:257850 |
Cockayne Syndrome |
|
Optic atrophy, Microphthalmia, Retinal dystrophy, Retinal atrophy, Pigmentary retinopathy, Retina... |
ORPHA:191 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:615877 |
Premature Aging Syndrome, Penttinen Type |
|
Microphthalmia, Hypermyelinated retinal nerve fibers |
OMIM:601812 |
Hallermann-Streiff Syndrome |
|
Microphthalmia, Chorioretinal coloboma, Optic disc coloboma |
OMIM:234100 |
Focal Dermal Hypoplasia |
|
Microphthalmia, Chorioretinal coloboma, Hypoplasia of the iris |
ORPHA:2092 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Microphthalmia |
OMIM:613150 |
Acro-Renal-Ocular Syndrome |
|
Optic disc hypoplasia, Microphthalmia, Chorioretinal coloboma, Optic disc coloboma |
ORPHA:959 |
Cat Eye Syndrome |
|
Microphthalmia, Chorioretinal coloboma |
OMIM:115470 |
Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia |
OMIM:601675 |
2Q31.1 Microdeletion Syndrome |
|
Microphthalmia, Optic disc coloboma |
ORPHA:251014 |
Frontonasal Dysplasia 2 |
|
Microphthalmia |
OMIM:613451 |
Holoprosencephaly |
|
Optic atrophy, Microphthalmia, Anophthalmia, Retinopathy, Chorioretinal coloboma |
ORPHA:2162 |
Microcephaly-Micromelia Syndrome |
|
Microphthalmia |
OMIM:251230 |
Monosomy 9Q22.3 |
|
Retinopathy, Microphthalmia |
ORPHA:77301 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia |
OMIM:302960 |
Cystinosis, Nephropathic |
|
Delayed puberty, Male infertility, Primary hypothyroidism, Hypohidrosis, Diabetes mellitus, Exocr... |
OMIM:219800 |
Frontorhiny |
|
Microphthalmia |
ORPHA:391474 |
Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia |
OMIM:278730 |
Trisomy 18 |
|
Microphthalmia, Abnormality of retinal pigmentation |
ORPHA:3380 |
Dubowitz Syndrome |
|
Microphthalmia, Rod-cone dystrophy, Hypoplasia of the iris |
OMIM:223370 |
8Q21.11 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:284160 |
3Q29 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:65286 |
Mosaic Trisomy 1 |
|
Microphthalmia |
ORPHA:1692 |
Meckel Syndrome |
|
Abnormal chorioretinal morphology, Optic atrophy, Microphthalmia, Anophthalmia, Aplasia/Hypoplasi... |
ORPHA:564 |
Mosaic Trisomy 9 |
|
Microphthalmia |
ORPHA:99776 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Optic nerve hypoplasia, Microphthalmia, Retinal coloboma, Abnormal optic disc morphology |
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, Microphthalmia, Congenital aphakia |
ORPHA:137675 |
Ohdo Syndrome, X-Linked |
|
Microphthalmia |
OMIM:300895 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Microphthalmia, Pigmentary retinopathy |
OMIM:309801 |
Phace Syndrome |
|
Optic nerve hypoplasia, Retinal vascular malformation, Microphthalmia, Lens coloboma |
ORPHA:42775 |
Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
Norrie Disease |
|
Abnormal chorioretinal morphology, Optic atrophy, Microphthalmia, Abnormal vitreous humor morphol... |
ORPHA:649 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2250 |
Alström Syndrome |
|
Precocious puberty in females, Primary hypothyroidism, Cognitive impairment, Decreased circulatin... |
ORPHA:64 |
Cockayne Syndrome B |
|
Optic atrophy, Microphthalmia, Pigmentary retinopathy, Hypoplasia of the iris |
OMIM:133540 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia |
OMIM:110100 |
Cystic Fibrosis |
|
Exocrine pancreatic insufficiency, Male infertility, Pancreatitis |
OMIM:219700 |
1Q21.1 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:250989 |
Trichothiodystrophy |
|
Bilateral microphthalmos, Macular degeneration, 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 |
|
Absent vas deferens, Male infertility, Exocrine pancreatic insufficiency |
ORPHA:586 |
Microphthalmia With Limb Anomalies |
|
Optic atrophy, Microphthalmia, True anophthalmia |
ORPHA:1106 |
Chromosome 13Q14 Deletion Syndrome |
|
Microphthalmia, Chorioretinal coloboma, Retinoblastoma |
OMIM:613884 |
Proboscis Lateralis |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Chorioretinal coloboma, Optic disc coloboma |
ORPHA:141099 |
Fanconi Anemia, Complementation Group C |
|
Microphthalmia |
OMIM:227645 |
Microphthalmia, Syndromic 2 |
|
Microphthalmia, Anophthalmia, Retinal detachment, Remnants of the hyaloid vascular system, Phthis... |
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 nerve hypoplasia, Bilateral microphthalmos, Attenuation of retinal blood vessels, Optic dis... |
ORPHA:468631 |
Basal Cell Nevus Syndrome 1 |
|
Microphthalmia |
OMIM:109400 |
Monosomy 13Q14 |
|
Microphthalmia, Retinoblastoma |
ORPHA:1587 |
Microgastria-Limb Reduction Defect Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2538 |
Oculodentodigital Dysplasia |
|
Microphthalmia |
OMIM:164200 |
Microphthalmia, Syndromic 9 |
|
Bilateral microphthalmos, Anophthalmia |
OMIM:601186 |
Oculocerebrorenal Syndrome Of Lowe |
|
Buphthalmos, Microphthalmia, Chorioretinal dysplasia |
ORPHA:534 |
Hallermann-Streiff Syndrome |
|
Microphthalmia |
ORPHA:2108 |
Noonan Syndrome 1 |
|
Male infertility, Hypospadias, Hypogonadism, Patent ductus arteriosus, Cryptorchidism |
OMIM:163950 |
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 |
|
Microphthalmia, Retinal hemorrhage, Hypoplasia of the iris, Peripapillary atrophy, Hypopigmentati... |
OMIM:175780 |
22Q11.2 Deletion Syndrome |
|
Optic atrophy, Microphthalmia, Retinal arteriolar tortuosity |
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 |
|
Microphthalmia, Optic disc coloboma |
OMIM:620186 |
Charge Syndrome |
|
Optic atrophy, Microphthalmia, Chorioretinal coloboma, Anophthalmia |
ORPHA:138 |
Holoprosencephaly 7 |
|
Bilateral microphthalmos, Microphthalmia |
OMIM:610828 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Microphthalmia |
OMIM:609945 |
Fanconi Anemia |
|
Microphthalmia, Aplasia/Hypoplasia of the iris |
ORPHA:84 |
Mend Syndrome |
|
Microphthalmia |
ORPHA:401973 |
Monosomy 9P |
|
Microphthalmia |
ORPHA:261112 |
Holoprosencephaly 9 |
|
Optic nerve hypoplasia, Microphthalmia, Anophthalmia |
OMIM:610829 |
Focal Dermal Hypoplasia |
|
Optic atrophy, Microphthalmia, Aniridia, Anophthalmia, Chorioretinal coloboma |
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 |
|
Lens coloboma, Microphthalmia, Hypoplasia of the fovea, Remnants of the hyaloid vascular system |
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 |
|
Microphthalmia, Chorioretinal coloboma, Remnants of the hyaloid vascular system |
OMIM:157170 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Microphthalmia |
ORPHA:306542 |
Renpenning Syndrome 1 |
|
Microphthalmia |
OMIM:309500 |
Charge Syndrome |
|
Microphthalmia, Unilateral microphthalmos, Anophthalmia, Retinal coloboma |
OMIM:214800 |
Microphthalmia, Syndromic 6 |
|
Microphthalmia, Retinal dystrophy, Anophthalmia |
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 |
|
Microphthalmia, Anophthalmia, Retinal coloboma |
OMIM:113620 |
8Q24.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Bilateral microphthalmos, Retinal coloboma |
ORPHA:508488 |
Fraser Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2052 |
Neu-Laxova Syndrome 1 |
|
Microphthalmia |
OMIM:256520 |
Witteveen-Kolk Syndrome |
|
Microphthalmia |
OMIM:613406 |
Lowe Oculocerebrorenal Syndrome |
|
Microphthalmia |
OMIM:309000 |
Mowat-Wilson Syndrome |
|
Microphthalmia, Chorioretinal coloboma |
OMIM:235730 |
Fraser Syndrome 1 |
|
Bilateral microphthalmos, Anophthalmia |
OMIM:219000 |
Holoprosencephaly 1 |
|
Microphthalmia |
OMIM:236100 |
Pallister-Hall Syndrome |
|
Microphthalmia |
ORPHA:672 |
Townes-Brocks Syndrome |
|
Microphthalmia, Chorioretinal coloboma |
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, Microphthalmia, Retinal coloboma |
ORPHA:261552 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Microphthalmia, Retinal coloboma |
ORPHA:261537 |
Microphthalmia, Syndromic 1 |
|
Microphthalmia, Chorioretinal coloboma, Optic disc coloboma, Anophthalmia |
OMIM:309800 |
Mowat-Wilson Syndrome |
|
Microphthalmia, Retinal coloboma |
ORPHA:2152 |
Roberts-Sc Phocomelia Syndrome |
|
Microphthalmia |
OMIM:268300 |
Craniofacial Microsomia 1 |
|
Microphthalmia, Anophthalmia |
OMIM:164210 |