Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... |
ORPHA:529970 |
Spermatogenic Failure 41 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head |
OMIM:618670 |
Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
Spermatogenic Failure 46 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... |
OMIM:619095 |
Spermatogenic Failure 43 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... |
OMIM:618751 |
Spermatogenic Failure 45 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619094 |
Spermatogenic Failure 49 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility |
OMIM:619689 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility |
OMIM:619696 |
Spermatogenic Failure 51 |
|
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... |
OMIM:619177 |
Spermatogenic Failure 70 |
|
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:619828 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Immotile sperm, Abnormal sperm morphology |
OMIM:608653 |
Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligospermia, Male infertility |
OMIM:258150 |
Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility |
OMIM:619108 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Partial Chromosome Y Deletion |
|
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... |
ORPHA:1646 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Microcephalic sperm head, Reduced sperm motility, Short sperm flagella, Ta... |
OMIM:617959 |
Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... |
OMIM:611102 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Spermatogenic Failure 18 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617576 |
Spermatogenic Failure 19 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617592 |
Spermatogenic Failure 35 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618341 |
Spermatogenic Failure 33 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618153 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Spermatogenic Failure 38 |
|
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... |
OMIM:618433 |
Spermatogenic Failure 10 |
|
Infertility, Abnormal sperm morphology |
OMIM:614822 |
Spermatogenic Failure 8 |
|
Azoospermia, Oligospermia, Cryptozoospermia |
OMIM:613957 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
Spermatogenic Failure 5 |
|
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa |
OMIM:243060 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 25 |
|
Azoospermia, Cryptozoospermia, Decreased testicular size |
OMIM:617960 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
Cataract 20, Multiple Types |
|
Membranous cataract, Cataract |
OMIM:116100 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Isochromosomy Yp |
|
Azoospermia, Ambiguous genitalia, Male infertility, Decreased testicular size |
ORPHA:98797 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
Spermatogenic Failure 32 |
|
Azoospermia, Infertility |
OMIM:618115 |
Spermatogenic Failure 23 |
|
Azoospermia, Infertility |
OMIM:617707 |
Isochromosomy Yq |
|
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Azoospermia, Gonada... |
ORPHA:98798 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 18 |
|
Cataract |
OMIM:610019 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Infertility, Cataract |
OMIM:300719 |
Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
Cataract 39, Multiple Types |
|
Developmental cataract |
OMIM:615188 |
Cataract 13 With Adult I Phenotype |
|
Developmental cataract |
OMIM:116700 |
Cataract 37 |
|
Developmental cataract |
OMIM:614422 |
Cataract 45 |
|
Developmental cataract |
OMIM:616851 |
Cataract 38 |
|
Developmental cataract |
OMIM:614691 |
Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
Spermatogenic Failure 2 |
|
Non-obstructive azoospermia, Oligospermia, Azoospermia, Male infertility |
OMIM:108420 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatoge... |
ORPHA:399808 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
Spermatogenic Failure 29 |
|
Azoospermia |
OMIM:618091 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Spermatogenic Failure 14 |
|
Azoospermia |
OMIM:615842 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal spermatogenesis, Decreased testicular size, Azoospermia, In... |
ORPHA:399805 |
Familial Male-Limited Precocious Puberty |
|
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism |
ORPHA:3000 |
Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility |
ORPHA:48 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Azoospermia, Male hypogonadism |
OMIM:241000 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia, Spermatocele |
OMIM:301060 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
Aniridia 3 |
|
Cataract |
OMIM:617142 |
Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
Iris Pigment Layer, Cleavage Of |
|
Peripheral retinal detachment, Cataract |
OMIM:147610 |
Spermatogenic Failure 15 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:616950 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Optic atrophy, Cataract |
ORPHA:2253 |
Cataract 12, Multiple Types |
|
Developmental cataract, Progressive cataract |
OMIM:611597 |
Morbid Obesity And Spermatogenic Failure |
|
Infertility, Oligospermia, Azoospermia |
OMIM:615703 |
Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility |
ORPHA:276183 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract, Hypogonadism |
OMIM:254000 |
Hypogonadism-Cataract Syndrome |
|
Infertility, Cataract, Male hypogonadism, Hypogonadism |
OMIM:240950 |
Young Syndrome |
|
Azoospermia |
OMIM:279000 |
Spastic Paraparesis And Deafness |
|
Cataract, Hypogonadism |
OMIM:312910 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Delayed menarche, Hypogonadotropic hypogonadism, Primary amenorrhea, Oligomen... |
ORPHA:52901 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m... |
ORPHA:261529 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Retinitis Pigmentosa 84 |
|
Macular coloboma, Cataract, Macular atrophy |
OMIM:618220 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Persistent pupillary membrane |
OMIM:225200 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Optic disc pallor, Cataract |
OMIM:165300 |
Spinocerebellar Ataxia 32 |
|
Infertility, Testicular atrophy, Azoospermia |
OMIM:613909 |
Ciliary Dyskinesia, Primary, 34 |
|
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... |
OMIM:617091 |
Pupillary Membrane, Persistence Of |
|
Megalocornea, Developmental cataract, Persistent pupillary membrane |
OMIM:178900 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia, Male infertility, Absent vas deferens |
OMIM:277180 |
Cataract-Microcornea Syndrome |
|
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy |
ORPHA:1377 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Spermatogenic Failure, X-Linked, 4 |
|
Abnormal prolactin level, Elevated circulating luteinizing hormone level, Male infertility, Azoos... |
OMIM:301077 |
Megalocornea |
|
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Retinal detachment, Astigmatism, Iridod... |
OMIM:309300 |
Anterior Segment Dysgenesis 8 |
|
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... |
OMIM:617319 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
Spermatogenic Failure 28 |
|
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... |
OMIM:618086 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased testic... |
OMIM:229070 |
Barth Syndrome |
|
Abnormal mitochondrial morphology |
ORPHA:111 |
Aniridia-Intellectual Disability Syndrome |
|
Optic nerve hypoplasia, Cataract, Ectopia lentis, Aniridia |
ORPHA:1068 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Peripapillary atrophy, Optic disc pallor, Cataract, Macular degeneration |
OMIM:618195 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent outer dynein arms, Immotile sperm |
OMIM:614874 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Lens subluxation, Cataract |
OMIM:614292 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Infertility, Reduced sperm motility, Decreased testicular size, Abnormal sperm head morphology, A... |
ORPHA:320391 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Cataract 21, Multiple Types |
|
Cerulean cataract, Retinal detachment, Microcornea, Cortical pulverulent cataract, Iris coloboma |
OMIM:610202 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
Aniridia 2 |
|
Lens subluxation, Optic atrophy, Iris coloboma, Cataract, Aniridia |
OMIM:617141 |
Cataract 1, Multiple Types |
|
Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta... |
OMIM:116200 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Iris coloboma, Cataract |
OMIM:610092 |
Adrenal Hypoplasia, Congenital |
|
Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Decreased cir... |
OMIM:300200 |
Premature Ovarian Failure 10 |
|
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... |
OMIM:612885 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... |
OMIM:614837 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract |
OMIM:156850 |
Ciliary Dyskinesia, Primary, 12 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Reduce... |
OMIM:612650 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Cataract, Corneal arcus |
OMIM:618463 |
Coats Disease |
|
Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Cataract, Retinal detachment |
ORPHA:190 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Cataract 9, Multiple Types |
|
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract |
OMIM:604219 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Iris coloboma, Posterior lenticonus, Microcornea |
ORPHA:231736 |
Ciliary Dyskinesia, Primary, 11 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility |
OMIM:612649 |
Genetic Hyperferritinemia Without Iron Overload |
|
Cataract |
ORPHA:254704 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Microcornea, Aniridia |
OMIM:106230 |
Ciliary Dyskinesia, Primary, 14 |
|
Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Abnormal axonemal organization ... |
OMIM:613807 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Immotile sperm, Absent respiratory ciliary axoneme radial spokes |
OMIM:242670 |
Galactosemia Ii |
|
Cataract |
OMIM:230200 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Oligospermia |
OMIM:314300 |
Ciliary Dyskinesia, Primary, 26 |
|
Infertility, Absent outer dynein arms, Reduced sperm motility |
OMIM:615500 |
Cataract 15, Multiple Types |
|
Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract |
OMIM:615274 |
Spondylometaphyseal Dysplasia, Axial |
|
Reduced sperm motility |
OMIM:602271 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Decreased activity of mitochondrial complex IV, Abnormal mitochondrial morphology |
OMIM:618378 |
Functioning Gonadotropic Adenoma |
|
Amenorrhea, Infertility, Adrenocorticotropic hormone deficiency, Impotence, Abnormal prolactin le... |
ORPHA:91348 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Increased mitochondrial number |
ORPHA:457050 |
47,Xyy Syndrome |
|
Increased circulating gonadotropin level, Micropenis, Hypospadias, Oligospermia, Varicocele, Male... |
ORPHA:8 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Cataract |
OMIM:613801 |
Vitreoretinal Degeneration, Snowflake Type |
|
Corneal guttata, Retinal detachment, Cataract, Snowflake vitreoretinal degeneration |
OMIM:193230 |
Cataract 47 |
|
Cataract, Microcornea |
OMIM:612018 |
Androgen Insensitivity, Partial |
|
Infertility, Bifid scrotum, Micropenis, Male pseudohermaphroditism, Absent vas deferens, Hypogona... |
OMIM:312300 |
Stickler Syndrome Type 2 |
|
Corneal opacity, Retinal detachment, Cataract |
ORPHA:90654 |
Wagner Vitreoretinopathy |
|
Optic atrophy, Retinal pigment epithelial atrophy, Cataract, Peripheral tractional retinal detach... |
OMIM:143200 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Cataract, Premature ovarian insufficiency |
ORPHA:2278 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Azoospermia, Hypogonadism |
OMIM:615234 |
Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract |
OMIM:600881 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Hypergonadotropic hypogonadism, Azoospermia |
OMIM:613724 |
Ciliary Dyskinesia, Primary, 15 |
|
Infertility, Abnormal axonemal organization of respiratory motile cilia, Immotile sperm |
OMIM:613808 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Cataract |
OMIM:616468 |
Hemochromatosis, Type 2A |
|
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia |
OMIM:602390 |
Retinitis Pigmentosa 37 |
|
Cystoid macular degeneration, Cataract, Pigmentary retinopathy |
OMIM:611131 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Azoospermia, Absent vas deferens |
OMIM:300985 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy |
OMIM:180104 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
ORPHA:2578 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Iris coloboma, Retinal detachment, Cataract, Macular atrophy |
OMIM:212550 |
Pituitary Dermoid And Epidermoid Cysts |
|
Amenorrhea, Panhypopituitarism, Oligomenorrhea, Oligospermia, Anterior hypopituitarism, Increased... |
ORPHA:91351 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Decreased activity of mitochondrial complex IV, Increased mitochondrial number |
OMIM:619063 |
Exfoliation Syndrome |
|
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... |
OMIM:177650 |
Cataract 3, Multiple Types |
|
Developmental cataract, Nuclear pulverulent cataract, Cerulean cataract, Sutural cataract |
OMIM:601547 |
Ciliary Dyskinesia, Primary, 22 |
|
Infertility, Absent inner and outer dynein arms, Reduced sperm motility |
OMIM:615444 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract |
OMIM:619813 |
Retinitis Pigmentosa 4 |
|
Cataract, Pigmentary retinopathy |
OMIM:613731 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
Morm Syndrome |
|
Cataract, Retinal atrophy |
ORPHA:75858 |
Morning Glory Disc Anomaly |
|
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Optic disc coloboma |
ORPHA:35737 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Abnormal mitochondrial morphology |
OMIM:618528 |
Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
Cataract 8, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:115665 |
Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... |
ORPHA:754 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Corneal opacity, Retinal detachment, Posterior embryotoxon, Optic atrophy, Iris coloboma, Cataract |
ORPHA:1473 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
Cataract 22, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:609741 |
Partial Androgen Insensitivity Syndrome |
|
Urogenital sinus anomaly, Blind vagina, Micropenis, Bifid scrotum, Hypospadias, Perineal hypospad... |
ORPHA:90797 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Absent outer dynein arms |
OMIM:612444 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Decreased mitochondrial number |
ORPHA:352470 |
Leber Congenital Amaurosis 16 |
|
Optic disc pallor, Cataract |
OMIM:614186 |
Cataract 11, Multiple Types |
|
Cataract |
OMIM:610623 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Micropenis, Ovarian cyst, Hypogonadotropic hypogonadism, Abnormality o... |
OMIM:228300 |
Lead Poisoning |
|
Infertility, Decreased male libido, Reduced sperm motility, Oligospermia, Abnormality of the mens... |
ORPHA:330015 |
Hsd10 Mitochondrial Disease |
|
Abnormal mitochondrial morphology |
OMIM:300438 |
Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Ciliary Dyskinesia, Primary, 40 |
|
Infertility, Patent ductus arteriosus, Absent outer dynein arms, Azoospermia |
OMIM:618300 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea |
OMIM:269400 |
Testicular Germ Cell Tumor |
|
Azoospermia |
OMIM:273300 |
Persistent Hyperplastic Primary Vitreous |
|
Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Buphthalmos, ... |
ORPHA:91495 |
Cataract 5, Multiple Types |
|
Nuclear cataract, Zonular cataract, Anterior polar cataract, Lamellar cataract, Pulverulent cataract |
OMIM:116800 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Mitochondrial hypertrophy, Female infertility, Premature ovarian insufficiency |
OMIM:619518 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Microphakia, Abnormality of retinal pigmentation, Lens subluxation, Retinal detachment, Cataract |
ORPHA:171844 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Primary amenorrhea, Cataract, Decreased fertility |
ORPHA:2410 |
Cone-Rod Dystrophy 16 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Cataract, Macular atrophy |
OMIM:614500 |
Peters Anomaly |
|
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... |
ORPHA:708 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Optic atrophy, Cataract, Retinal dysplasia |
OMIM:613154 |
Retinopathy, Pigmentary, And Mental Retardation |
|
Cataract, Pigmentary retinopathy, Hypogonadism |
OMIM:268050 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane |
ORPHA:1067 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Reduced progressive sperm motility |
OMIM:619608 |
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
|
Posterior synechiae of the anterior chamber, Iris coloboma, Retinal atrophy, Developmental cataract |
OMIM:616722 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Cataract, Microcornea |
OMIM:619082 |
Generalized Glucocorticoid Resistance Syndrome |
|
Infertility, Decreased circulating aldosterone level, Precocious puberty, Increased circulating c... |
ORPHA:786 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Micropenis, Primary amenorrhea, Decreased testicular size, Hypogonadism, Azoospermia, Cryptorchidism |
OMIM:614897 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Buphthalmos, ... |
OMIM:221900 |
Ciliary Dyskinesia, Primary, 5 |
|
Reduced sperm motility |
OMIM:608647 |
Leber Congenital Amaurosis 8 |
|
Nummular pigmentation of the fundus, Pigmentary retinopathy, Keratoconus, Cataract, Macular coloboma |
OMIM:613835 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Retinal coloboma, Cataract, Hypogonadism |
OMIM:601794 |
Coloboma, Ocular, Autosomal Recessive |
|
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract |
OMIM:216820 |
Myotonic Dystrophy 2 |
|
Oligospermia, Elevated circulating follicle stimulating hormone level, Hypogonadism |
OMIM:602668 |
46,Xx Sex Reversal 1 |
|
Sex reversal, Bicornuate uterus, Hypospadias, Elevated circulating luteinizing hormone level, Ovo... |
OMIM:400045 |
46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... |
ORPHA:251510 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Retinal coloboma, Cataract, Hypogonadism |
ORPHA:363741 |
Spastic Paraplegia Type 7 |
|
Abnormal mitochondrial morphology |
ORPHA:99013 |
Autosomal Dominant Keratitis |
|
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... |
ORPHA:2334 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
Leber Congenital Amaurosis |
|
Keratoconus, Cataract, Abnormal optic disc morphology, Abnormality of retinal pigmentation |
ORPHA:65 |
Amoebic Keratitis |
|
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... |
ORPHA:67043 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Hypergonadotropic hypogonadism, Decreased mitochondrial number |
ORPHA:352447 |
Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Peters anomaly, Ocula... |
OMIM:107250 |
Anterior Segment Dysgenesis 2 |
|
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... |
OMIM:610256 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal mitochondrial morphology |
ORPHA:275872 |
46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the uterus, Micropenis, Bifid scrotum, Hypoplasia of the vagina, Ovot... |
OMIM:278850 |
Coloboma, Ocular, Autosomal Dominant |
|
Corneal opacity, Remnants of the hyaloid vascular system, Optic disc coloboma, Peters anomaly, Op... |
OMIM:120200 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract |
OMIM:273680 |
Norrie Disease |
|
Corneal opacity, Shallow anterior chamber, Buphthalmos, Retinal detachment, Opacification of the ... |
OMIM:310600 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Congenital hypoparathyroidism, Male infertility |
ORPHA:2239 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Mitochondrial hypertrophy, Decreased activity of mitochondrial complex IV, Decreased activity of ... |
OMIM:500013 |
Cataract 30, Multiple Types |
|
Diffuse nuclear cataract, Pulverulent cataract, Posterior polar cataract |
OMIM:116300 |
Isolated Aniridia |
|
Peters anomaly, Cataract, Aniridia |
ORPHA:250923 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Complete Androgen Insensitivity Syndrome |
|
Blind vagina, Elevated circulating luteinizing hormone level, Primary amenorrhea, Female external... |
ORPHA:99429 |
Pellagra-Like Syndrome |
|
Cataract |
OMIM:260650 |
Aniridia And Absent Patella |
|
Cataract, Aniridia |
OMIM:106220 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Oligospermia, Male infertility, Hypogonadism, Abnormal testis morphology, Primary testicular failure |
ORPHA:85450 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
Gapo Syndrome |
|
Amenorrhea, Oligospermia, Dysmenorrhea, Hypogonadism |
ORPHA:2067 |
Cataract 16, Multiple Types |
|
Posterior polar cataract, Developmental cataract |
OMIM:613763 |
Cataract 31, Multiple Types |
|
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract |
OMIM:605387 |
Polycystic Kidney, Cataract, And Congenital Blindness |
|
Hypoplasia of the retina, Microcoria, Cataract |
OMIM:263100 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Bilateral c... |
ORPHA:90793 |
Optic Nerve Hypoplasia, Bilateral |
|
Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic nerve hypoplasia |
OMIM:165550 |
Classic Galactosemia |
|
Oligomenorrhea, Primary amenorrhea, Decreased fertility in females, Secondary amenorrhea, Male in... |
ORPHA:79239 |
Primary Ciliary Dyskinesia |
|
Female infertility, Abnormal sperm motility, Male infertility |
ORPHA:244 |
Mitochondrial Phosphate Carrier Deficiency |
|
Abnormal mitochondrial shape |
OMIM:610773 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
Cataract 41 |
|
Nuclear cataract |
OMIM:116400 |
Bardet-Biedl Syndrome 9 |
|
Retinal degeneration, Irregular menstruation, Astigmatism, Cataract, Bone spicule pigmentation of... |
OMIM:615986 |
Cataract 33, Multiple Types |
|
Cortical cataract, Lamellar cataract, Nuclear cataract |
OMIM:611391 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Oligospermia, Clitoral hypoplasia |
OMIM:614813 |
Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
Cataract 43 |
|
Posterior subcapsular cataract |
OMIM:616279 |
Chromosome 16Q12 Duplication Syndrome |
|
Retinal pigment epithelial mottling, Anisocoria, Cataract, Temporal optic disc pallor |
OMIM:619649 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... |
ORPHA:1772 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Mitochondrial swelling |
ORPHA:397744 |
Aromatase Deficiency |
|
Female infertility, Ambiguous genitalia, female, Hypergonadotropic hypogonadism, Primary amenorrh... |
ORPHA:91 |
Isolated Ectopia Lentis |
|
Ectopia pupillae, Cataract, Ectopia lentis |
ORPHA:1885 |
Bloom Syndrome |
|
Male infertility, Azoospermia, Oligospermia, Premature ovarian insufficiency |
ORPHA:125 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Absent outer dynein arms |
OMIM:244400 |
Barth Syndrome |
|
Abnormal mitochondrial morphology |
OMIM:302060 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Elevated circulating follicle stimulating hormone level, Abnormal external genitalia, Micropenis,... |
ORPHA:95699 |
Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
Oculo-Palato-Cerebral Syndrome |
|
Remnants of the hyaloid vascular system, Retinal detachment, Cataract, Leukocoria |
ORPHA:2714 |
Aniridia 1 |
|
Corneal neovascularization, Ectopia pupillae, Optic nerve hypoplasia, Opacification of the cornea... |
OMIM:106210 |
Carney Complex |
|
Sertoli cell neoplasm, Precocious puberty, Elevated circulating growth hormone concentration, Dec... |
ORPHA:1359 |
Pierson Syndrome |
|
Remnants of the hyaloid vascular system, Uveal ectropion, Retinal detachment, Posterior lenticonu... |
OMIM:609049 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Retinal detachment, Peters anoma... |
OMIM:614643 |
Oculoauricular Syndrome |
|
Microphakia, Retinal coloboma, Retinal detachment, Posterior embryotoxon, Microcornea, Iris colob... |
OMIM:612109 |
Autosomal Dominant Polycystic Kidney Disease |
|
Reduced sperm motility |
ORPHA:730 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Increased mitochondrial number |
ORPHA:263297 |
Dystonia-Aphonia Syndrome |
|
Abnormal mitochondrial shape |
ORPHA:412217 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Ambiguous genitalia, Abnormal mitochondrial shape, Clitoral hypertrophy |
ORPHA:543470 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal mitochondrial shape |
ORPHA:485421 |
Renal Cysts And Diabetes Syndrome |
|
Exocrine pancreatic insufficiency, Hypoplasia of the uterus, Bicornuate uterus, Atretic vas defer... |
OMIM:137920 |
Enhanced S-Cone Syndrome |
|
Cataract, Pigmentary retinopathy |
OMIM:268100 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hypospadias, Abnormal mitochondrial shape, Decreased activity of mitochondrial complex IV, Decrea... |
ORPHA:17 |
Fanconi Anemia, Complementation Group A |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Male infertility |
OMIM:227650 |
Tetrasomy 9P |
|
Infertility, Cryptorchidism, Micropenis, Oligospermia, Polymicrogyria, Lissencephaly, Pachygyria |
ORPHA:3310 |
Norrie Disease |
|
Corneal opacity, Remnants of the hyaloid vascular system, Abnormal pupil morphology, Anterior cha... |
ORPHA:649 |
Cataract 23, Multiple Types |
|
Lamellar cataract |
OMIM:610425 |
Coccidioidomycosis |
|
Pancreatitis, Abnormal sperm morphology, Abnormality of the male genitalia, Abnormality of the fe... |
ORPHA:228123 |
Neurofibromatosis Type 2 |
|
Cortical cataract, Remnants of the hyaloid vascular system, Posterior subcapsular cataract |
ORPHA:637 |
Cystinosis, Nephropathic |
|
Exocrine pancreatic insufficiency, Hypohidrosis, Decreased plasma carnitine, Male infertility, Ma... |
OMIM:219800 |
Cystic Fibrosis |
|
Exocrine pancreatic insufficiency, Male infertility, Pancreatitis |
OMIM:219700 |
Neuroocular Syndrome |
|
Remnants of the hyaloid vascular system, Blue irides, Stellate iris, Microcornea, Peters anomaly,... |
OMIM:619539 |
Microphthalmia, Syndromic 2 |
|
Remnants of the hyaloid vascular system, Retinal detachment, Microcornea, Iris coloboma, Developm... |
OMIM:300166 |
Noonan Syndrome 1 |
|
Hypospadias, Male infertility, Patent ductus arteriosus, Hypogonadism, Cryptorchidism |
OMIM:163950 |
Alström Syndrome |
|
Precocious puberty in females, Decreased circulating T4 concentration, Pancreatitis, Decreased fe... |
ORPHA:64 |
Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Iris coloboma |
OMIM:157170 |