Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cryptorchidism, Cataract |
OMIM:274205 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract, Infertility |
OMIM:300719 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
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 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia, Cataract |
OMIM:156850 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
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 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... |
ORPHA:98797 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Spastic Paraparesis And Deafness |
|
Cataract, Hypogonadism |
OMIM:312910 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Cataract 11, Multiple Types |
|
Microphthalmia, Cataract, Developmental cataract |
OMIM:610623 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:610092 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microcornea, Microphthalmia, Cataract, Hypogonadism |
ORPHA:2528 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma |
OMIM:604219 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract, External genital hypoplasia, Cryptorchidism, Hypogonadism, Microphthalmia |
ORPHA:363741 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Foveal Hypoplasia 1 |
|
Hypoplasia of the fovea, Presenile cataracts |
OMIM:136520 |
Isochromosomy Yq |
|
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... |
ORPHA:98798 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microcornea, Microphthalmia |
OMIM:251505 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract, Hypogonadism |
OMIM:254000 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Cataract, Hypogonadism, Cryptorchidism |
OMIM:601794 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Spastic Paraparesis-Deafness Syndrome |
|
Cataract, Hypogonadism |
ORPHA:2815 |
Hypogonadism-Cataract Syndrome |
|
Cataract, Hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Mal... |
OMIM:240950 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... |
ORPHA:529970 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract |
ORPHA:2253 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Microphthalmia, Corneal opacity |
ORPHA:2432 |
X-Linked Retinoschisis |
|
Cataract |
ORPHA:792 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Microphthalmia, Cataract, Cryptorchidism |
OMIM:613730 |
Spermatogenic Failure, X-Linked, 6 |
|
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Cataract, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation |
OMIM:261550 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Absent testis |
OMIM:613094 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Microphthalmia, Anophthalmia, Iris coloboma |
OMIM:616428 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Hypospadias, Cataract, Cryptorchidism |
ORPHA:1381 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Congenital Varicella Syndrome |
|
Microphthalmia, Cataract |
ORPHA:291 |
Leukoencephalopathy With Vanishing White Matter 2 |
|
Cataract, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:620312 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon |
OMIM:609218 |
Microphthalmia, Isolated 2 |
|
Microphthalmia, Opacification of the corneal stroma |
OMIM:610093 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:120433 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cryptorchidism, Cataract |
ORPHA:2489 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Cataract, Premature ovarian insufficiency |
ORPHA:2278 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia, Cataract |
OMIM:278780 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Iris coloboma |
OMIM:614497 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
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 |
Microphthalmia, Syndromic 8 |
|
Microcornea, Microphthalmia, Cryptorchidism |
OMIM:601349 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Premature Ovarian Failure 12 |
|
Microphthalmia, Primary amenorrhea |
OMIM:616947 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract |
OMIM:619813 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Cataract, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of se... |
ORPHA:2410 |
Optic Atrophy 3, Autosomal Dominant |
|
Cataract |
OMIM:165300 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Iris coloboma, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Galactosemia Ii |
|
Cataract |
OMIM:230200 |
Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Anophthalmia, Cataract, Optic nerve hypoplasia, Cryptorchidism, Micr... |
OMIM:610125 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante... |
OMIM:269400 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Corneal arcus, Cataract |
OMIM:618463 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
1Q21.1 Microduplication Syndrome |
|
Cryptorchidism, Cataract, Hypospadias |
ORPHA:250994 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Cataract, Sclerocornea, Cryptorchidism, Microcornea, Microphthalmia, Abnormality of... |
ORPHA:139471 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
Microphthalmia, Isolated 6 |
|
Microcornea, Microphthalmia |
OMIM:613517 |
Cofs Syndrome |
|
Microphthalmia, Cataract, Hypogonadism |
ORPHA:1466 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ... |
OMIM:604229 |
Mmep Syndrome |
|
Microphthalmia, Cryptorchidism |
ORPHA:3434 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Corneal opacity, Microphthalmia, Posterior embryotoxon, Iris coloboma |
ORPHA:1473 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly |
OMIM:610023 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m... |
ORPHA:2334 |
Gombo Syndrome |
|
Microphthalmia, Delayed puberty |
OMIM:233270 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Wagr Syndrome |
|
Cataract, Cryptorchidism, Aplasia/Hypoplasia of the iris, Ambiguous genitalia, Displacement of th... |
ORPHA:893 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Cryptorchidism, Bicornuate uterus, Neonatal death, Microphthalmia |
OMIM:615524 |
Warburg Micro Syndrome 1 |
|
External genital hypoplasia, Cryptorchidism, Developmental cataract, Microcornea, Microphthalmia |
OMIM:600118 |
Aniridia-Absent Patella Syndrome |
|
Aniridia, Cryptorchidism, Cataract |
ORPHA:1069 |
Bardet-Biedl Syndrome 18 |
|
Cataract |
OMIM:615995 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... |
OMIM:616950 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia, Cataract, Abnormality iris morphology |
ORPHA:1617 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microcornea, Microphthalmia, Cataract, Hypogonadotropic hypogonadism |
ORPHA:48431 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Ocular anterior segment dysgenesis, Developmental cataract |
ORPHA:324416 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Conge... |
ORPHA:83461 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... |
OMIM:620356 |
Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microcornea, Microphthalmia, Cataract |
OMIM:616171 |
Microphthalmia, Isolated 5 |
|
Microphthalmia, Cataract |
OMIM:611040 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
Microphthalmia, Syndromic 13 |
|
Microcornea, Microphthalmia, Iris coloboma |
OMIM:300915 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Obstructive azoospermia |
OMIM:301060 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... |
OMIM:217300 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia, Sclerocornea |
OMIM:611038 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Micropenis, Cataract |
OMIM:610156 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... |
OMIM:619949 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Cataract, Small scrotum, Developmental cataract, Microphthalmia, Micropenis |
OMIM:610756 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Cataract |
OMIM:273680 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Biemond Syndrome Type 2 |
|
Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism, Delayed puberty, Microphthalmia |
ORPHA:141333 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Martsolf Syndrome 2 |
|
Cataract, Hypogonadotropic hypogonadism, Developmental cataract |
OMIM:619420 |
Coats Disease |
|
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology |
ORPHA:190 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia, Shallow anterior chamber |
OMIM:267760 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cataract, Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Secondary amenorrhea,... |
ORPHA:3085 |
Pierpont Syndrome |
|
Microcornea, Microphthalmia, Cryptorchidism |
ORPHA:487825 |
Bresek Syndrome |
|
Optic nerve hypoplasia, Cryptorchidism, Neonatal death, Microphthalmia, Iris coloboma, Decreased ... |
ORPHA:85284 |
Morm Syndrome |
|
Micropenis, Cataract |
ORPHA:75858 |
Wilson-Turner Syndrome |
|
Cryptorchidism, Cataract, Hypogonadotropic hypogonadism |
ORPHA:3459 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Aniridia, Microcornea, Cataract |
OMIM:106230 |
Laurence-Moon Syndrome |
|
Hypoplasia of penis, Cataract, Cryptorchidism, Type II diabetes mellitus, Displacement of the ure... |
ORPHA:2377 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia, Cataract |
OMIM:251270 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
Retinitis Pigmentosa |
|
Keratoconus, Hypoplasia of penis, Cataract, Hyperinsulinemia, Hypogonadism, Type II diabetes mell... |
ORPHA:791 |
Isolated Aniridia |
|
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly |
ORPHA:250923 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Cataract, Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular si... |
ORPHA:320391 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microcornea, Microphthalmia, Posterior lenticonus, Iris coloboma |
ORPHA:231736 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Pierpont Syndrome |
|
Microcornea, Microphthalmia, Micropenis, Cryptorchidism |
OMIM:602342 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Anophthalmia, Hypospadias, Sclerocornea, Cryptorchidism, Microphthalmia, Iri... |
ORPHA:77298 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Cataract, Testicular atrophy |
OMIM:160900 |
Warburg Micro Syndrome 4 |
|
Small scrotum, Cryptorchidism, Developmental cataract, Microcornea, Microphthalmia, Micropenis, D... |
OMIM:615663 |
Warburg Micro Syndrome 2 |
|
Cataract, Small scrotum, Cryptorchidism, Developmental cataract, Microcornea, Hypoplastic labia m... |
OMIM:614225 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ambiguous genitalia, Microphthalmia, Cataract |
ORPHA:93267 |
Retinitis Pigmentosa 40 |
|
Cataract |
OMIM:613801 |
Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Developmental cataract, Microphthalmia, Micropenis, Decreased testicula... |
ORPHA:335 |
Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
Neurooculocardiogenitourinary Syndrome |
|
Bilateral cryptorchidism, Microphthalmia, Peters anomaly |
OMIM:618652 |
Aniridia 2 |
|
Aniridia, Iris coloboma, Cataract, Lens subluxation |
OMIM:617141 |
Warburg Micro Syndrome 3 |
|
Cataract, Small scrotum, Hypoplastic labia minora, Developmental cataract, Microcornea, Shallow a... |
OMIM:614222 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Cataract, Corneal scarring, Buphthalmos, Microphthalmia, Iris coloboma |
OMIM:212550 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis, Cataract |
ORPHA:2772 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract |
OMIM:613826 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia, Astigmatism, Cataract |
OMIM:619694 |
Lissencephaly 8 |
|
Microphthalmia, Cataract |
OMIM:617255 |
Erythrokeratodermia Variabilis |
|
Diabetes mellitus, Cataract, Corneal opacity, Abnormal testis morphology |
ORPHA:317 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, ... |
ORPHA:280679 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Cataract, Optic nerve hypoplasia |
OMIM:615181 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Cataract, Corneal dystrophy |
ORPHA:1369 |
Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Corneal opacity, External genital hypoplasia, Cryptorchidism, Decreased testicular size |
ORPHA:1867 |
Senior-Loken Syndrome |
|
Cataract, Premature ovarian insufficiency |
ORPHA:3156 |
Nance-Horan Syndrome |
|
Microcornea, Microphthalmia, Cataract |
ORPHA:627 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia, Cryptorchidism |
OMIM:164180 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia, Developmental cataract |
OMIM:613155 |
Kahrizi Syndrome |
|
Cataract, Iris coloboma |
OMIM:612713 |
Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Cataract, Cryptorchidism, Microcornea, Vaginal atresia, Microphthalmia, Ir... |
ORPHA:3301 |
Trichothiodystrophy 3, Photosensitive |
|
Bilateral cryptorchidism, Microphthalmia, Cataract, Developmental cataract |
OMIM:616395 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Cataract |
OMIM:618805 |
Classic Galactosemia |
|
Male infertility, Decreased serum insulin-like growth factor 1, Cataract, Premature ovarian insuf... |
ORPHA:79239 |
Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
Cat-Eye Syndrome |
|
Microphthalmia, Iris coloboma |
ORPHA:195 |
Congenital Rubella Syndrome |
|
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Type I diabetes mellitus, Microphthalmia |
ORPHA:290 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Pellagra-Like Syndrome |
|
Cataract |
OMIM:260650 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia, Ectopia pupillae |
OMIM:156900 |
Aniridia 3 |
|
Aniridia, Cataract |
OMIM:617142 |
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 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Decreased serum testosterone concentration, Cataract, Premature ovarian insufficiency |
ORPHA:101006 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Cataract, Hypospadias, Sclerocornea, Precocious puberty, Microcornea, Ectopia pupil... |
OMIM:615877 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, Anophthalmia, Cataract, External genital hypoplasia, Cryptorchidism, Hypogon... |
ORPHA:2250 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Small scrotum, Hypospadias, Cryptorchidism, Microcornea, Abnormality of the scrotum, Microphthalmia |
ORPHA:2505 |
Spermatogenic Failure 14 |
|
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... |
OMIM:615842 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Cataract |
OMIM:183800 |
Trisomy 13 |
|
Anophthalmia, Cataract, Displacement of the urethral meatus, Cryptorchidism, Aplasia/Hypoplasia o... |
ORPHA:3378 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Buphthalmos, Microcornea, Shallow anterior... |
OMIM:221900 |
Cataract 48 |
|
Cataract |
OMIM:618415 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia, Cataract, Cryptorchidism |
OMIM:214150 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism, Microphthalmia |
OMIM:152950 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Cataract, Hypogonadism |
OMIM:302950 |
Retinitis Pigmentosa 9 |
|
Cataract |
OMIM:180104 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Uterine leiomyosarcoma, Uterine leiomyoma, Cataract, Vaginal neoplasm |
ORPHA:523 |
Myopia 28, Autosomal Recessive |
|
Cataract |
OMIM:619781 |
Micro Syndrome |
|
Hypoplasia of penis, Cataract, Cryptorchidism, Hypoplastic labia minora, Microcornea, Clitoral hy... |
ORPHA:2510 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia, Cataract, Corneal opacity |
OMIM:613153 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Bartsocas-Papas Syndrome 2 |
|
Corneal opacity, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pterygium |
OMIM:619339 |
Galactokinase Deficiency |
|
Cataract, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Hyperinsulinemia, Nucl... |
ORPHA:79237 |
Kapur-Toriello Syndrome |
|
Cataract, Cryptorchidism, Hypoplastic labia majora, Microphthalmia, Micropenis, Iris coloboma |
OMIM:244300 |
8Q21.11 Microdeletion Syndrome |
|
Hypoplasia of penis, Cataract, Corneal opacity, Sclerocornea, Cryptorchidism, Microphthalmia, Iri... |
ORPHA:284160 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia |
OMIM:616570 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Corneal opacity, Isosexual precocious puberty |
ORPHA:2788 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Cataract, Lens subluxation |
OMIM:614292 |
Hemochromatosis, Type 4 |
|
Diabetes mellitus, Impotence, Cataract |
OMIM:606069 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Wolfram Syndrome 1 |
|
Diabetes mellitus, Cataract, Diabetes insipidus, Hypothyroidism, Testicular atrophy |
OMIM:222300 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca, Microphthalmia |
ORPHA:1806 |
Rere-Related Neurodevelopmental Syndrome |
|
Hypospadias, Cryptorchidism, Astigmatism, Peters anomaly, Microphthalmia, Iris coloboma |
ORPHA:494344 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Walker-Warburg Syndrome |
|
Hypoplasia of penis, Anophthalmia, Corneal opacity, Cataract, Cryptorchidism, Microcornea, Microp... |
ORPHA:899 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... |
OMIM:110100 |
Spondylo-Ocular Syndrome |
|
Cataract, Microphthalmia, Aplasia/Hypoplasia of the lens, Iris hypopigmentation |
ORPHA:85194 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Developmental cataract, Buphthalmos, Micro... |
ORPHA:91495 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Vitreoretinochoroidopathy |
|
Microcornea, Microphthalmia, Pulverulent cataract, Developmental cataract |
OMIM:193220 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia, Abnormal anterior eye segment morphology |
ORPHA:209956 |
Temtamy Syndrome |
|
Microphthalmia, Iris coloboma |
ORPHA:1777 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cataract, Corneal opacity, Optic nerve hypoplasia, Cryptorchidism, Delayed puberty |
ORPHA:496790 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia, Abnormal external genitalia |
ORPHA:3469 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Sclerocornea, Microcornea, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma |
OMIM:615145 |
Rodrigues Blindness |
|
Microcornea, Microphthalmia, Sclerocornea |
OMIM:268320 |
Frontofacionasal Dysplasia |
|
Cataract, Brushfield spots, Microcornea, Limbal dermoid, Microphthalmia, Iris coloboma |
ORPHA:1791 |
Borjeson-Forssman-Lehmann Syndrome |
|
Hypoplasia of penis, Cataract, Small scrotum, Cryptorchidism, Hypogonadism, Decreased testicular ... |
ORPHA:127 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microcornea, Microphthalmia, Cataract, Iris transillumination defect |
OMIM:617306 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
Temtamy Syndrome |
|
Microphthalmia, Ectopia lentis, Iris coloboma, Lens luxation |
OMIM:218340 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
Otodental Syndrome |
|
Cataract, Lens coloboma, Microcornea, Microphthalmia, Iris coloboma |
ORPHA:2791 |
Frontonasal Dysplasia 1 |
|
Microphthalmia, Cataract |
OMIM:136760 |
Microphthalmia, Lenz Type |
|
Cataract, Hypospadias, Cryptorchidism, Microcornea, Microphthalmia, Iris coloboma |
ORPHA:568 |
Nance-Horan Syndrome |
|
Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract |
OMIM:302350 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Oculoauricular Syndrome |
|
Cataract, Sclerocornea, Phthisis bulbi, Developmental cataract, Microcornea, Iris cyst, Macular h... |
OMIM:612109 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia, Hypogonadotropic hypogonadism |
ORPHA:1135 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308750 |
Baraitser-Winter Syndrome 1 |
|
Microphthalmia, Micropenis, Iris coloboma, Cryptorchidism |
OMIM:243310 |
Encephalocraniocutaneous Lipomatosis |
|
Sclerocornea, Cryptorchidism, Hypoplasia of the iris, Limbal dermoid, Microphthalmia |
OMIM:613001 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocornea, Hypogonadotrop... |
OMIM:206900 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia, Cataract, Hypogonadism |
OMIM:610651 |
Gorlin Syndrome |
|
Cryptorchidism, Cataract, Hypogonadotropic hypogonadism, Iris coloboma |
ORPHA:377 |
Joubert Syndrome 37 |
|
Microphthalmia, Micropenis, Decreased testicular size, Cryptorchidism |
OMIM:619185 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia |
OMIM:615297 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Cataract, Sclerocornea, Cryptorchidism, Microphthalmia, Micropenis |
OMIM:614230 |
Retinitis Pigmentosa 84 |
|
Cataract |
OMIM:618220 |
Triploidy |
|
Hypoplasia of penis, Cataract, Hypospadias, Cryptorchidism, Ambiguous genitalia, Aplasia/Hypoplas... |
ORPHA:3376 |
Chromosome Xp11.3 Deletion Syndrome |
|
Cryptorchidism, Posterior subcapsular cataract, Cataract |
OMIM:300578 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Cataract, Abnormally large globe |
OMIM:615249 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, ... |
OMIM:300845 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia, Cataract |
OMIM:612379 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:274270 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Cataract, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circul... |
ORPHA:3453 |
Cardiomyopathy, Dilated, 1Ii |
|
Cataract |
OMIM:615184 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Microcornea, Microphthalmia, Keratoconjunctivitis sicca, Decreased fertility |
OMIM:234050 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... |
ORPHA:99429 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia, Cataract |
OMIM:614105 |
Vitreoretinal Degeneration, Snowflake Type |
|
Cataract, Corneal guttata |
OMIM:193230 |
Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Optic nerve aplasia, Corneal opacity, Peters anomaly |
OMIM:120200 |
Hemochromatosis, Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... |
OMIM:235200 |
Bosma Arhinia Microphthalmia Syndrome |
|
Cataract, Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Primary amenorrhea, Hypopla... |
OMIM:603457 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Cataract, Corneal opacity, Bilateral microphthalmos, Microphthalmia, Conjunctival hyperemia |
ORPHA:2399 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Cataract, Optic nerve hypoplasia, Abnormality iris morphology, Microphthalmia, Megalocornea |
ORPHA:370959 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Neonatal death, Cryptorchidism, Pterygium, Cataract |
OMIM:224410 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia, Developmental cataract |
OMIM:614219 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corneal neovascu... |
OMIM:278730 |
Martsolf Syndrome 1 |
|
Cataract, Hypogonadotropic hypogonadism, Cryptorchidism, Developmental cataract, Microphthalmia, ... |
OMIM:212720 |
Stromme Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Stillbirth, Peters anomaly, Micropht... |
OMIM:243605 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia, Small scrotum, Hypogonadism, Cryptorchidism |
ORPHA:228390 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Cataract, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrhea, ... |
OMIM:157640 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Hypospadias, Sclerocornea, Ovotestis, Hypoplasia of the uterus, Chordee, Peters anomaly... |
OMIM:309801 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
Cataract 3, Multiple Types |
|
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Macroorchidism, Iris coloboma, Hypospadias, Unilateral microphthalmos |
OMIM:618874 |
Wagro Syndrome |
|
Decreased testicular size, Cataract, Corneal opacity, Aniridia, Hypoplastic female external genit... |
OMIM:612469 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... |
OMIM:601552 |
Kapur-Toriello Syndrome |
|
Hypoplastic labia majora, Microphthalmia, Hypoplasia of penis, Iris coloboma |
ORPHA:2328 |
Bardet-Biedl Syndrome 9 |
|
Astigmatism, Irregular menstruation, Cataract |
OMIM:615986 |
Hereditary Mucoepithelial Dysplasia |
|
Abnormal morphology of female internal genitalia, Cataract, Corneal dystrophy |
ORPHA:1839 |
Meckel Syndrome, Type 8 |
|
Ambiguous genitalia, Microphthalmia, Anophthalmia |
OMIM:613885 |
3Q29 Microduplication Syndrome |
|
Cataract, Sclerocornea, Aniridia, Microphthalmia, Iris coloboma |
ORPHA:251038 |
Oculofaciocardiodental Syndrome |
|
Cataract, Ectopia lentis, Microcornea, Microphthalmia, Iris coloboma |
ORPHA:2712 |
Matthew-Wood Syndrome |
|
Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormality of the uterus, Micr... |
ORPHA:2470 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
Sandestig-Stefanova Syndrome |
|
Microphthalmia, Developmental cataract |
OMIM:618804 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
Isolated Ectopia Lentis |
|
Ectopia pupillae, Cataract, Ectopia lentis |
ORPHA:1885 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia, Micropenis |
OMIM:308350 |
Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia, Cataract |
ORPHA:163649 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
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Cataract, Corneal opacity, Optic nerve hypoplasia, Cryptorchidism, Buphthalmos, Hypoplastic male ... |
OMIM:236670 |
Hydrolethalus |
|
Cryptorchidism, Microphthalmia, Anophthalmia, Abnormal fallopian tube morphology |
ORPHA:2189 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia, Peters anomaly |
OMIM:614526 |
Moebius Syndrome |
|
Microphthalmia, Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size |
OMIM:157900 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypoparathyroidism, Cataract, Decreased circulating parathyroid hormone level |
OMIM:146200 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia, Cataract |
OMIM:616538 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
Harrod Syndrome |
|
Cryptorchidism, Cataract, Hypospadias |
ORPHA:2115 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ocular anterior segment dysgenesis, Bilateral microphthalmos, Cryptorchidism |
ORPHA:369891 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cataract, Hypospadias, Microcornea, Microphthalmia, Clitoral hypertrophy |
OMIM:616449 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Leukocoria |
OMIM:257910 |
Coloboma, Ocular, Autosomal Recessive |
|
Iris coloboma, Cataract, Lens subluxation |
OMIM:216820 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia, Shallow anterior chamber |
OMIM:305390 |
Familial Exudative Vitreoretinopathy |
|
Microphthalmia, Cataract |
ORPHA:891 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Hypoplasia of penis |
ORPHA:2547 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia |
ORPHA:1528 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Frontorhiny |
|
Cataract, Microphthalmia, Hypopituitarism, Diabetes insipidus, Iris coloboma |
ORPHA:391474 |
Trichothiodystrophy 1, Photosensitive |
|
Cataract, Microcornea, Keratoconjunctivitis sicca, Hypogonadism, Microphthalmia |
OMIM:601675 |
1Q21.1 Microdeletion Syndrome |
|
Microphthalmia, Cataract, Iris coloboma, Cryptorchidism |
ORPHA:250989 |
Refsum Disease |
|
Microphthalmia, Cataract |
ORPHA:773 |
Gracile Bone Dysplasia |
|
Aniridia, Microphthalmia, Micropenis |
OMIM:602361 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Cryptorchidism, Microcornea, Abnormal fallopian tube morphology, Microphthalmia |
ORPHA:3412 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia |
OMIM:614082 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia, Ectopia pupillae, Astigmatism, Cataract |
OMIM:618727 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Meckel Syndrome |
|
Anophthalmia, Cataract, True hermaphroditism, Sclerocornea, Pancreatic fibrosis, Pancreatic cysts... |
ORPHA:564 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Familial Isolated Hypoparathyroidism |
|
Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Cata... |
ORPHA:2238 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... |
OMIM:617091 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
Genetic Hyperferritinemia Without Iron Overload |
|
Cataract |
ORPHA:254704 |
Cowden Syndrome 5 |
|
Cataract, Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyr... |
OMIM:615108 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Vaginal fistula, Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia, Astigmatism, Cataract |
OMIM:618571 |
Cowden Syndrome 6 |
|
Cataract, Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyr... |
OMIM:615109 |
Morning Glory Disc Anomaly |
|
Cataract |
ORPHA:35737 |
Phace Association |
|
Optic nerve hypoplasia, Congenital hypothyroidism, Developmental cataract, Microphthalmia, Lingua... |
OMIM:606519 |
Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Astigmatism, Micro... |
OMIM:609053 |
Seckel Syndrome 2 |
|
Microphthalmia, Hypospadias |
OMIM:606744 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Microphthalmia, Cryptorchidism |
OMIM:618494 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Lens coloboma |
OMIM:618914 |
Werner Syndrome |
|
Diabetes mellitus, Cataract, Hypogonadism, Hypertriglyceridemia |
OMIM:277700 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cataract, Buphthalmos, Persistent pupillary membrane, Peters anomaly, Microphthalmia |
OMIM:613150 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... |
OMIM:241410 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Cataract, Female hypogonadism, Premature ovarian insufficiency, Decreased cir... |
OMIM:240300 |
Rothmund-Thomson Syndrome, Type 2 |
|
Cataract, Cryptorchidism, Microcornea, Hypogonadism, Microphthalmia, Annular pancreas, Zonular ca... |
OMIM:268400 |
Curry-Jones Syndrome |
|
Microphthalmia, Iris coloboma |
ORPHA:1553 |
3Q29 Microdeletion Syndrome |
|
Microphthalmia, Cataract, Hypospadias |
ORPHA:65286 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia, Small scrotum, Cryptorchidism |
ORPHA:2728 |
Jacobsen Syndrome |
|
Hypospadias, Cryptorchidism, Microcornea, Clitoral hypoplasia, Macular hypoplasia, Labial hypopla... |
OMIM:147791 |
Congenital Toxoplasmosis |
|
Microphthalmia |
ORPHA:858 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Conjunctival hyperemia |
OMIM:167730 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Corneal opacity, Cryptorchidism, Abnormality of the uterus, Abnormal fallopi... |
ORPHA:99776 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Microcornea, Microphthalmia, Cataract |
ORPHA:35173 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia, Agenesis of pineal gland |
OMIM:614402 |
Fryns Syndrome |
|
Corneal opacity, Hypospadias, Cryptorchidism, Bicornuate uterus, Microphthalmia |
ORPHA:2059 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia |
OMIM:602501 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm |
OMIM:614874 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... |
OMIM:305400 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microcornea, Microphthalmia, Cataract, Persistent pupillary membrane |
OMIM:257850 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia, Cryptorchidism |
ORPHA:404440 |
Oculo-Palato-Cerebral Syndrome |
|
Microphthalmia, Cataract, Leukocoria |
ORPHA:2714 |
Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia, Cryptorchidism |
OMIM:619135 |
Marden-Walker Syndrome |
|
Microphthalmia, Micropenis, Hypospadias, Cryptorchidism |
OMIM:248700 |
Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy |
OMIM:618165 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti... |
ORPHA:465508 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia, Unilateral cryptorchidism |
OMIM:206920 |
Trisomy 18 |
|
Cataract, Cryptorchidism, Microcornea, Microphthalmia, Abnormal morphology of female internal gen... |
ORPHA:3380 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia |
OMIM:300887 |
Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Cataract, Microcoria, Uveal ectropion, Hypoplasia... |
OMIM:609049 |
Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Hypothyroidism, Lens coloboma, Ectopic thyroid, M... |
ORPHA:42775 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Bilateral microphthalmos, Developmental cataract, Congenital hypoparathyroidism, Decreased testic... |
ORPHA:93325 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... |
OMIM:613807 |
Ifap Syndrome 2 |
|
Keratitis, Keratoconjunctivitis sicca, Cataract |
OMIM:619016 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Absent outer dynein arms |
OMIM:612444 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Absent outer dynein arms, Abnormal cornea morphology |
OMIM:244400 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Dubowitz Syndrome |
|
Hypospadias, Cryptorchidism, Hypoplasia of the iris, Hypocholesterolemia, Microphthalmia, Megaloc... |
OMIM:223370 |
Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Diabetes... |
ORPHA:649 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia, Ovarian carcinoma, Ovarian neoplasm |
OMIM:617883 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microcornea, Microphthalmia, Hypoplastic nipples |
OMIM:156610 |
Treacher-Collins Syndrome |
|
Thyroid hypoplasia, Hypoplasia of penis, Cataract, Small scrotum, Cryptorchidism, Abnormality of ... |
ORPHA:861 |
Cohen Syndrome |
|
Microphthalmia, Delayed puberty, Iris coloboma, Cryptorchidism |
ORPHA:193 |
Hartsfield Syndrome |
|
Microphthalmia |
ORPHA:2117 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia |
OMIM:614583 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia, Thyroid C cell hyperplasia, Sclerocornea |
OMIM:300952 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchidism |
OMIM:227650 |
Mend Syndrome |
|
Microphthalmia, Cataract, Cryptorchidism |
ORPHA:401973 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Microphthalmia, Cataract, Optic nerve hypoplasia, Peters anomaly |
OMIM:614643 |
Alport Syndrome 2, Autosomal Recessive |
|
Corneal erosion, Cataract, Anterior lenticonus |
OMIM:203780 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia, Supernumerary nipple, Cryptorchidism |
OMIM:612530 |
Joubert Syndrome 22 |
|
Microphthalmia |
OMIM:615665 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... |
ORPHA:263479 |
Adams-Oliver Syndrome |
|
Microphthalmia, Cataract |
ORPHA:974 |
Tetraamelia Syndrome 1 |
|
Cataract, Hypoplasia of the fallopian tube, Absent external genitalia, Adrenal gland agenesis, Mi... |
OMIM:273395 |
Fanconi Anemia |
|
Cataract, Hypospadias, Abnormal preputium morphology, Cryptorchidism, Aplasia/Hypoplasia of the i... |
ORPHA:84 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Developmental cataract, Microcornea, Male urethral meatus stenosis, Microphthalmia, ... |
ORPHA:464738 |
Hallermann-Streiff Syndrome |
|
Microphthalmia, Cataract, Iris coloboma, Cryptorchidism |
OMIM:234100 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Microphthalmia, Developmental cataract |
OMIM:127000 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Microphthalmia, Ectopia pupillae, Corneal opacity, Lens subluxation |
ORPHA:85167 |
Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Cataract |
OMIM:619649 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Microphthalmia, Vaginal atresia, Optic nerve hypoplasia |
OMIM:617914 |
Hallermann-Streiff Syndrome |
|
Cryptorchidism, Microphthalmia, Hypothyroidism, Developmental cataract |
ORPHA:2108 |
Bartsocas-Papas Syndrome 1 |
|
Absent external genitalia, Bilateral cryptorchidism, Micropenis, Hypoplastic labia majora, Poplit... |
OMIM:263650 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Cataract, Supernumerary nipple, Keratitis, Breast aplasia, Hypoplastic n... |
OMIM:308300 |
Pelvis-Shoulder Dysplasia |
|
Microcornea, Ambiguous genitalia, Bilateral microphthalmos, Iris coloboma |
ORPHA:2839 |
Papillorenal Syndrome |
|
Microphthalmia, Cataract, Lens luxation |
OMIM:120330 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia, Type II diabetes mellitus |
ORPHA:3191 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Hyperthyroidism, Cataract, Band keratopathy, Primary adrenal insufficiency, Thymoma, Keratoconjun... |
OMIM:269200 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia, Cataract |
OMIM:302960 |
2Q31.1 Microdeletion Syndrome |
|
Microphthalmia, Abnormality of the hypothalamus-pituitary axis, Iris coloboma, Cryptorchidism |
ORPHA:251014 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
Roberts Syndrome |
|
Cataract, Cryptorchidism, Long penis, Microphthalmia, Clitoral hypertrophy |
ORPHA:3103 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Bifid scrotum, Hypospadias, Cryptorchidism, Penoscrotal transposition, Microphthalmia |
OMIM:619148 |
Basal Cell Nevus Syndrome 1 |
|
Cataract, Ovarian fibroma, Ovarian carcinoma, Microphthalmia, Iris coloboma |
OMIM:109400 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Microphthalmia, Cataract |
OMIM:253800 |
Pseudotrisomy 13 Syndrome |
|
Adrenal hypoplasia, Cryptorchidism, Bicornuate uterus, Microphthalmia, Micropenis |
OMIM:264480 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia, Ocular albinism |
ORPHA:1352 |
Monosomy 18P |
|
Microphthalmia, Hypothyroidism |
ORPHA:1598 |
Chromosome 13Q14 Deletion Syndrome |
|
Supernumerary nipple, Cryptorchidism, Microphthalmia, Micropenis, Iris coloboma |
OMIM:613884 |
Mosaic Trisomy 1 |
|
Microphthalmia, Micropenis, Penile hypospadias, Opacification of the corneal stroma |
ORPHA:1692 |
Monosomy 9Q22.3 |
|
Microphthalmia, Cataract, Ovarian fibroma |
ORPHA:77301 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Anophthalmia, Corneal opacity, Hypospadias, Sclerocornea, Epispadias, ... |
ORPHA:2556 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Microphthalmia, Cataract, Hypothyroidism, Cryptorchidism |
OMIM:620005 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia |
ORPHA:1438 |
Lymphedema-Distichiasis Syndrome |
|
Microphthalmia, Corneal ulceration, Conjunctivitis, Recurrent corneal erosions |
OMIM:153400 |
Fanconi Anemia, Complementation Group F |
|
Microphthalmia, Microphallus, Decreased response to growth hormone stimulation test, Cryptorchidism |
OMIM:603467 |
Frontofacionasal Dysplasia |
|
Microcornea, Microphthalmia, Cataract, Iris coloboma |
OMIM:229400 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis |
ORPHA:2239 |
Atelis Syndrome 2 |
|
Microphthalmia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia,... |
OMIM:620185 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Galloway-Mowat Syndrome 1 |
|
Hypoplasia of the iris, Microphthalmia, Cataract, Opacification of the corneal stroma |
OMIM:251300 |
Cousin Syndrome |
|
Microcornea, Microphthalmia, Ambiguous genitalia, female, Ambiguous genitalia, male |
OMIM:260660 |
Lowe Oculocerebrorenal Syndrome |
|
Hypercholesterolemia, Cryptorchidism, Corneal scarring, Developmental cataract, Microphthalmia, D... |
OMIM:309000 |
Fanconi Anemia, Complementation Group E |
|
Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchidism |
OMIM:600901 |
Duane-Radial Ray Syndrome |
|
Microphthalmia, Cataract, Optic disc hypoplasia, Iris coloboma |
OMIM:607323 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anterior hypopituitarism, Anophthalmia, Decreased response to growth hormone stim... |
OMIM:147250 |
17Q12 Microduplication Syndrome |
|
Microphthalmia |
ORPHA:261272 |
Mosaic Variegated Aneuploidy Syndrome |
|
Cataract, Corneal opacity, Vaginal neoplasm, Ambiguous genitalia, Microphthalmia, Hypothyroidism |
ORPHA:1052 |
Fryns Syndrome |
|
Bifid scrotum, Ectopic pancreatic tissue, Hypospadias, Cryptorchidism, Bicornuate uterus, Stillbi... |
OMIM:229850 |
Ohdo Syndrome, X-Linked |
|
Small scrotum, Cryptorchidism, Shawl scrotum, Microphthalmia, Micropenis |
OMIM:300895 |
Cockayne Syndrome B |
|
Cryptorchidism, Developmental cataract, Hypoplasia of the iris, Microcornea, Opacification of the... |
OMIM:133540 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Small scrotum, Hypospadias, Cryptorchidism, Microcornea, Microphthalmia |
OMIM:616734 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Cataract, Corneal opacity, Hypercholesterolemia, Cryptorchidism, Abnormal pu... |
ORPHA:534 |
Histiocytoid Cardiomyopathy |
|
Corneal opacity, Polycystic ovaries, Microphthalmia, Megalocornea, Congenital aphakia |
ORPHA:137675 |
Acro-Renal-Ocular Syndrome |
|
Cataract, Optic disc hypoplasia, Microcornea, Microphthalmia, Iris coloboma |
ORPHA:959 |
Frontonasal Dysplasia 2 |
|
Bilateral cryptorchidism, Microphthalmia |
OMIM:613451 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia, Iris coloboma, Supernumerary nipple |
ORPHA:1236 |
Incontinentia Pigmenti |
|
Cataract, Corneal opacity, Supernumerary nipple, Keratitis, Microphthalmia |
ORPHA:464 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
Proboscis Lateralis |
|
Anophthalmia, Corneal opacity, Optic nerve hypoplasia, Cataract, External genital hypoplasia, Mic... |
ORPHA:141099 |
Meckel Syndrome, Type 5 |
|
Microphthalmia, Bile duct proliferation |
OMIM:611561 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Ambiguous genitalia, Microp... |
ORPHA:2166 |
Trichothiodystrophy |
|
Cryptorchidism, Bilateral microphthalmos, Developmental cataract, Microcornea, Keratoconjunctivit... |
ORPHA:33364 |
Osteoporosis-Pseudoglioma Syndrome |
|
Iris atrophy, Cataract, Phthisis bulbi, Absent anterior chamber of the eye, Microphthalmia |
OMIM:259770 |
Focal Dermal Hypoplasia |
|
Corneal opacity, Ectopia lentis, Hypoplasia of the iris, Microphthalmia, Iris coloboma |
ORPHA:2092 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Linear Nevus Sebaceus Syndrome |
|
Microphthalmia, Adenoma sebaceum, Iris coloboma |
ORPHA:2612 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, Hypospadias, Septate vagina, Cryptorchidism, Phthisis bulbi, Developmental cataract... |
OMIM:300166 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hypospadias, Cryptorchidism, Peters anomaly, Microphthalmia, Annular pancreas |
OMIM:616975 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Ambiguous genitalia, Microphthalmia, Stillbirth, Cryptorchidism |
OMIM:616300 |
Holoprosencephaly |
|
Hypoplasia of penis, Anophthalmia, Diabetes mellitus, Cryptorchidism, Panhypopituitarism, Microph... |
ORPHA:2162 |
Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:273 |
Progeroid Short Stature With Pigmented Nevi |
|
Cataract, Hypospadias, Premature ovarian insufficiency, Diabetes mellitus, Allergic conjunctiviti... |
OMIM:176690 |
Steinfeld Syndrome |
|
Microphthalmia, Iris coloboma, Absent gallbladder |
OMIM:184705 |
Monosomy 13Q14 |
|
Microphthalmia, Cataract, Iris coloboma |
ORPHA:1587 |
Premature Aging Syndrome, Penttinen Type |
|
Corneal stromal edema, Microphthalmia, Elevated circulating thyroid-stimulating hormone concentra... |
OMIM:601812 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia, Vaginal atresia |
OMIM:248450 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... |
ORPHA:85450 |
Cockayne Syndrome |
|
Cataract, Diabetes mellitus, Band keratopathy, Cryptorchidism, Absence of pubertal development, D... |
ORPHA:191 |
Renpenning Syndrome 1 |
|
Cataract, Hypospadias, Phimosis, Microphthalmia, Decreased testicular size |
OMIM:309500 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Cryptorchidism, Bilateral microphthalmos, Hypoplasia of the uterus, Bicornuate uter... |
OMIM:601186 |
Neu-Laxova Syndrome 1 |
|
Cataract, Bifid uterus, Cryptorchidism, Stillbirth, Neonatal death, Microphthalmia, Pterygium |
OMIM:256520 |
Fanconi Anemia, Complementation Group C |
|
Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchidism |
OMIM:227645 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia |
OMIM:300863 |
Stevenson-Carey Syndrome |
|
Microphthalmia |
OMIM:611961 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia, Corneal opacity |
ORPHA:364577 |
Oculodentodigital Dysplasia |
|
Microcornea, Microphthalmia, Cataract |
OMIM:164200 |
Meckel Syndrome, Type 2 |
|
Microphthalmia, Bile duct proliferation |
OMIM:603194 |
Holoprosencephaly 9 |
|
Anophthalmia, Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Ante... |
OMIM:610829 |
Myhre Syndrome |
|
Microphthalmia, Cataract, Cryptorchidism |
OMIM:139210 |
Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Cataract, Hypospadias, Rectoperineal fistula, Cryptorchidism,... |
ORPHA:857 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia, Supernumerary nipple |
OMIM:620098 |
Aicardi Syndrome |
|
Precocious puberty, Microphthalmia, Cataract |
OMIM:304050 |
Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia, Iris atrophy |
OMIM:201180 |
Curry-Jones Syndrome |
|
Microphthalmia, Iris coloboma |
OMIM:601707 |
Microphthalmia, Syndromic 6 |
|
Anophthalmia, Small scrotum, Female hypogonadism, Sclerocornea, Adrenal hypoplasia, Cryptorchidis... |
OMIM:607932 |
Meckel Syndrome, Type 4 |
|
Microphthalmia, Bile duct proliferation |
OMIM:611134 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Cataract, Hypospadias, Supernumerary nipple, Cryptorchidism, Microcornea, Ectopia ... |
OMIM:235730 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Bifid scrotum, Hypospadias, Cryptorchidism, Antecubital pterygium, Popliteal pterygium, Clitoral ... |
OMIM:609945 |
3P25.3 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:435638 |
Cockayne Syndrome Type 3 |
|
Cataract, Microcornea, Keratoconjunctivitis sicca, Lentiglobus, Microphthalmia, Corneal ulceration |
ORPHA:90324 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Buphthalmos, Hypoplasia of the retina, Opacification of the corneal stroma, Microphthal... |
OMIM:253280 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia |
OMIM:619053 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia |
ORPHA:163966 |
Heart And Brain Malformation Syndrome |
|
Microphthalmia |
OMIM:616920 |
Yunis-Varon Syndrome |
|
Cataract, Hypospadias, Sclerocornea, Cryptorchidism, Bilateral microphthalmos, Hypoplastic labia ... |
ORPHA:3472 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Thyroid hypoplasia, Absent nipple, Aplasia of the thymus, Congenital hypothyroidism, Hydrocele te... |
OMIM:620186 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Cataract, Hypospadias, Hyperthyroidism, Cholelithiasis, Cryptorchidism, Hypop... |
ORPHA:567 |
Fanconi Anemia, Complementation Group D2 |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Annular pancreas, Microphthalmia, Micropenis |
OMIM:227646 |
Charge Syndrome |
|
Bifid scrotum, Anophthalmia, Hypogonadotropic hypogonadism, Cryptorchidism, Abnormality of the ad... |
ORPHA:138 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia |
OMIM:607597 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Corneal opacity, Polycoria, Developmental cataract, Hypoplasia of the iris, Microcornea, Ectopia ... |
OMIM:175780 |
Meckel Syndrome, Type 1 |
|
External genital hypoplasia, Adrenal hypoplasia, Cryptorchidism, Ambiguous genitalia, female, Amb... |
OMIM:249000 |
Mycophenolate Mofetil Embryopathy |
|
Microphthalmia, Iris coloboma |
ORPHA:268249 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy |
OMIM:300322 |
Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos |
OMIM:615085 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Microphthalmia, Cataract |
ORPHA:306542 |
Joubert Syndrome 14 |
|
Microphthalmia |
OMIM:614424 |
Charge Syndrome |
|
Hypoparathyroidism, Anophthalmia, Cataract, Hypogonadotropic hypogonadism, External genital hypop... |
OMIM:214800 |
Cat Eye Syndrome |
|
Microphthalmia, Iris coloboma |
OMIM:115470 |
Fetal Alcohol Syndrome |
|
Microphthalmia |
ORPHA:1915 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Meckel Syndrome 14 |
|
Ambiguous genitalia, Microphthalmia, Aplasia of the uterus |
OMIM:619879 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Cataract, Brushfield spots, Lens coloboma, Blue irides, Microcornea, Pet... |
OMIM:619539 |
Joubert Syndrome 2 |
|
Microphthalmia, Hypoplastic male external genitalia |
OMIM:608091 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Microphthalmia, Anophthalmia, Cataract |
ORPHA:2526 |
Focal Dermal Hypoplasia |
|
Anophthalmia, Supernumerary nipple, Ectopia lentis, Cryptorchidism, Clitoral hypoplasia, Hypoplas... |
OMIM:305600 |
Microcephaly-Micromelia Syndrome |
|
Neonatal death, Microphthalmia |
OMIM:251230 |
Fraser Syndrome 1 |
|
Anophthalmia, Corneal opacity, Hypospadias, Cryptorchidism, Bilateral microphthalmos, Bicornuate ... |
OMIM:219000 |
X-Linked Intellectual Disability, Snyder Type |
|
Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy |
ORPHA:3063 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Microphthalmia, Iris coloboma, Hypospadias, Optic nerve hypoplasia |
ORPHA:508498 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microphthalmia, Iris coloboma, Absent gallbladder |
ORPHA:3186 |
Roberts-Sc Phocomelia Syndrome |
|
Cataract, Hypospadias, Corneal opacity, Enlarged labia minora, Cryptorchidism, Long penis, Bicorn... |
OMIM:268300 |
Monosomy 9P |
|
Ambiguous genitalia, Microphthalmia, Hypospadias, Cryptorchidism |
ORPHA:261112 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Septate vagina, Uterus didelphys, Neonatal death, Microphthalmia, Micropenis |
OMIM:617925 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Bilateral microphthalmos |
OMIM:610758 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia |
OMIM:617244 |
Witteveen-Kolk Syndrome |
|
Cataract, Hypospadias, Unilateral cryptorchidism, Decreased response to growth hormone stimulatio... |
OMIM:613406 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, True anophthalmia, Cryptorchidism |
ORPHA:1106 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Hypospadias, Cataract, Supernumerary nipple, Cryptorchidism, Microphthalmia, Ectopi... |
OMIM:113620 |
Fraser Syndrome |
|
Hypoplasia of penis, Anophthalmia, Small scrotum, Hypospadias, Cryptorchidism, Bicornuate uterus,... |
ORPHA:2052 |
Holoprosencephaly 7 |
|
Microphthalmia, Bilateral microphthalmos, Panhypopituitarism, Iris coloboma |
OMIM:610828 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Hypospadias, Optic nerve hypoplasia, Cryptorchidism, Bilateral microphthalmos, Microphallus |
ORPHA:468631 |
Fraser Syndrome 2 |
|
Ambiguous genitalia, Microphthalmia, Hypoplasia of the thymus |
OMIM:617666 |
Fanconi Anemia, Complementation Group L |
|
Microphthalmia, Micropenis, Aplasia of the uterus |
OMIM:614083 |
Pallister-Hall Syndrome |
|
Small scrotum, Adrenal hypoplasia, Gonadotropin deficiency, Micropenis, Aplasia/hypoplasia of the... |
ORPHA:672 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Microphthalmia, Corneal opacity |
OMIM:608670 |
Fontaine Progeroid Syndrome |
|
Small scrotum, Absent nipple, Cryptorchidism, Hypoplastic labia majora, Hypoplastic nipples, Neon... |
OMIM:612289 |
Galloway-Mowat Syndrome 3 |
|
Microphthalmia |
OMIM:617729 |
Momo Syndrome |
|
Abnormality of the thyroid gland, Bilateral microphthalmos |
ORPHA:2563 |
Microgastria-Limb Reduction Defect Syndrome |
|
Microphthalmia, Anophthalmia, Rectovaginal fistula, Perineal fistula |
ORPHA:2538 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Microphthalmia, Cataract, Sutural cataract, Nuclear pulverulent cataract |
OMIM:612474 |
Aicardi Syndrome |
|
Precocious puberty, Microphthalmia, Delayed puberty |
ORPHA:50 |
Cystinosis, Nephropathic |
|
Male infertility, Diabetes mellitus, Corneal crystals, Primary hypothyroidism, Recurrent corneal ... |
OMIM:219800 |
Treacher Collins Syndrome 1 |
|
Cryptorchidism, Bilateral microphthalmos, Abnormal parotid gland morphology |
OMIM:154500 |
Degcags Syndrome |
|
Hypospadias, Cryptorchidism, Chordee, Ambiguous genitalia, Microphthalmia |
OMIM:619488 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Iris atrophy, Cataract, Hypospadias, Septate vagina, Webbed penis, Cryptorchidism,... |
ORPHA:261552 |
Teebi-Shaltout Syndrome |
|
Microphthalmia |
OMIM:272950 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Cataract, Hypospadias, Septate vagina, Webbed penis, Cryptorchidism, Hydrocele tes... |
ORPHA:261537 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Hypospadias, Cryptorchidism, Microcornea, Ciliary body coloboma, Microphthalmia, Ir... |
OMIM:309800 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Cataract, Hypospadias, Septate vagina, Webbed penis, Cryptorchidism, Hydrocele tes... |
ORPHA:2152 |
Holoprosencephaly 2 |
|
Adrenal hypoplasia, Microphthalmia, Diabetes insipidus, Iris coloboma, Anterior pituitary agenesis |
OMIM:157170 |
Hydrolethalus Syndrome 1 |
|
Hypospadias, Bifid uterus, Stillbirth, Adrenal gland dysgenesis, Microphthalmia, Abnormal vagina ... |
OMIM:236680 |
Adams-Oliver Syndrome 1 |
|
Microphthalmia, Imperforate hymen, Supernumerary nipple |
OMIM:100300 |
Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
Holoprosencephaly 1 |
|
Microphthalmia, Micropenis, Diabetes insipidus, Adrenal hypoplasia |
OMIM:236100 |
Cystic Fibrosis |
|
Male infertility, Steatorrhea |
OMIM:219700 |
Noonan Syndrome 1 |
|
Male infertility, Cryptorchidism, Hypogonadism, Hypospadias |
OMIM:163950 |
8Q24.3 Microdeletion Syndrome |
|
Ectopic posterior pituitary, Bilateral microphthalmos, Optic nerve hypoplasia |
ORPHA:508488 |
Craniofacial Microsomia 1 |
|
Limbal dermoid, Microphthalmia, Anophthalmia |
OMIM:164210 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
|
OMIM:600121 |