Complement Component 4, Partial Deficiency Of |
|
Systemic lupus erythematosus |
OMIM:120790 |
Autoimmune Disease |
|
Autoimmune antibody positivity, Autoimmunity |
OMIM:109100 |
Pemphigus Vulgaris, Familial |
|
Autoimmune antibody positivity, Autoimmunity |
OMIM:169610 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Hashimoto Thyroiditis |
|
Autoimmune antibody positivity, Hashimoto thyroiditis |
OMIM:140300 |
Tn Polyagglutination Syndrome |
|
Autoimmunity |
OMIM:300622 |
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 |
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 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... |
ORPHA:98797 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro... |
ORPHA:2334 |
Complement Component 8 Deficiency, Type I |
|
Systemic lupus erythematosus |
OMIM:613790 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Miscarriage, Female infertility |
OMIM:619176 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Rod-cone dystrophy, Cataract, Infertility, Hearing impairment |
OMIM:300719 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Ring Chromosome Y Syndrome |
|
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... |
ORPHA:261529 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Cryptorchidism, Abnormal antihelix morphology, Chorioretinal coloboma, Hearing impairment |
OMIM:274205 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
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 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Systemic Lupus Erythematosus 16 |
|
Antinuclear antibody positivity, Perinuclear antineutrophil antibody positivity, Anti-dsDNA antib... |
OMIM:614420 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
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 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 |
Spastic Paraparesis And Deafness |
|
Tremor, Cataract, Hypogonadism, Hearing impairment |
OMIM:312910 |
Galactosialidosis |
|
Cherry red spot of the macula, Corneal opacity, Hearing impairment |
ORPHA:351 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Winchester Syndrome |
|
Osteolysis involving tarsal bones, Generalized osteoporosis, Carpal osteolysis, Corneal opacity |
OMIM:277950 |
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 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Isochromosomy Yq |
|
Male infertility, Decreased testicular size, Gonadal tissue inappropriate for external genitalia ... |
ORPHA:98798 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Cortical Dysplasia, Complex, With Other Brain Malformations 4 |
|
Agyria, Cataract, Microcephaly, Subcortical band heterotopia, Thick corpus callosum, Pachygyria, ... |
OMIM:615412 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... |
ORPHA:529970 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... |
OMIM:309300 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Cataract, Microcephaly, Microcornea, Hypogonadism, Microphthalmia |
ORPHA:2528 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Sensorineural hearing impairment, Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog... |
ORPHA:891 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cerebellar vermis hypoplasia, Dandy-Walker malformation, Cataract |
ORPHA:73245 |
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 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Microcephaly, Keratitis, Sensorineural hearing impairment, Defective DNA repair after u... |
OMIM:278730 |
Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Abnormality of male external genitalia, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
Xeroderma Pigmentosum, Complementation Group G |
|
Cataract, Microcephaly, Tremor, Defective DNA repair after ultraviolet radiation damage, Micropht... |
OMIM:278780 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Microphthalmia, Corneal opacity |
ORPHA:2432 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia, Cataract |
OMIM:156850 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Optic disc pallor, Retinal detachment, Cataract, Abnormality of retinal pigmentation, Chorioretin... |
OMIM:251270 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Cataract, Macular atrophy, Microcephaly, Hypoplasia of the pons, Partial agene... |
OMIM:616171 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Abnormal vitreou... |
ORPHA:90654 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, C... |
ORPHA:1473 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microcornea, Microphthalmia, Coloboma |
OMIM:251505 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Warburg Micro Syndrome 1 |
|
Cerebellar vermis hypoplasia, External genital hypoplasia, Microcephaly, Cryptorchidism, Perisylv... |
OMIM:600118 |
Bilateral Striopallidodentate Calcinosis |
|
Cerebral calcification, Corneal opacity, Thrombocytopenia, Microcephaly |
ORPHA:1980 |
Cofs Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Cerebral calcification, Microcephaly, Sensorineura... |
ORPHA:1466 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract, Cerebellar agenesis |
ORPHA:1397 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty |
OMIM:300604 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Cataract, Hypogonadotropic hypogonadism, Osteoporosis, Microcornea, Microphthalmia, Cerebral cort... |
ORPHA:48431 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic disc pallor, Cataract, Tremor, Optic atrophy, Hearing impairment |
OMIM:165300 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation |
OMIM:261550 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract, Optic atrophy |
ORPHA:2253 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
Fanconi Anemia, Complementation Group O |
|
Chromosome breakage, Death in infancy, Miscarriage, External genital hypoplasia, Cryptorchidism, ... |
OMIM:613390 |
Mucolipidosis Iv |
|
Corneal opacity, Cerebral dysmyelination, Microcephaly, Dysplastic corpus callosum, Optic atrophy... |
OMIM:252650 |
Spastic Paraparesis-Deafness Syndrome |
|
Sensorineural hearing impairment, Cataract, Hypogonadism |
ORPHA:2815 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Hyperprolactinemia |
|
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
Vernal Keratoconjunctivitis |
|
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... |
ORPHA:70476 |
Complement Component C1S Deficiency |
|
Hashimoto thyroiditis, Systemic lupus erythematosus |
OMIM:613783 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
X-Linked Retinoschisis |
|
Retinoschisis, Cataract |
ORPHA:792 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Retinal detachment, Corneal opacity, Isosexual precocious puberty, Osteoporosis, Abno... |
ORPHA:2788 |
Corneal Dystrophy, Congenital Stromal |
|
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy |
OMIM:610048 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival... |
ORPHA:98957 |
C1Q Deficiency 1 |
|
Autoimmunity, Systemic lupus erythematosus |
OMIM:613652 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Optic disc pallor, Cerebellar vermis hypoplasia, Cataract, Fundus atrophy, Absent fo... |
OMIM:204100 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
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 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve mis... |
OMIM:609218 |
Cataract 21, Multiple Types |
|
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... |
OMIM:610202 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Hypospadias, Cryptorchidism, Dilated cardiomyopathy, Simplified gyral pattern, D... |
OMIM:618815 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Retinitis Pigmentosa |
|
Keratoconus, Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Abnormal retinal... |
ORPHA:791 |
Nathalie Syndrome |
|
Sensorineural hearing impairment, Cataract, Arrhythmia |
ORPHA:2663 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma |
OMIM:604219 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Cataract-Deafness-Hypogonadism Syndrome |
|
Sensorineural hearing impairment, Hypogonadism, Developmental cataract |
ORPHA:1383 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Agenesis of cerebellar vermis, Corneal opacity, Cataract, Type II lissencepha... |
OMIM:613153 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract, External genital hypoplasia, Cryptorchidism, Hypogonadism, Retinal coloboma, Microphtha... |
ORPHA:363741 |
Cone-Rod Dystrophy 1 |
|
Cone/cone-rod dystrophy, Hypogonadism, Hearing impairment |
OMIM:600624 |
Complement Component 2 Deficiency |
|
Systemic lupus erythematosus |
OMIM:217000 |
Peroxisome Biogenesis Disorder 10A (Zellweger) |
|
Epiphyseal stippling, Cataract |
OMIM:614882 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Microphthalmia, Syndromic 13 |
|
Microcephaly, Anteverted ears, Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:300915 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Cataract, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of se... |
ORPHA:2410 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... |
OMIM:611040 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... |
OMIM:217300 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Retinal dystrophy, Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Ch... |
ORPHA:231736 |
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 With Brain And Digit Anomalies |
|
Cataract, Anophthalmia, Retinal dystrophy, Sclerocornea, Microcephaly, Cryptorchidism, Sensorineu... |
ORPHA:139471 |
Wagner Vitreoretinopathy |
|
Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Chorioretinal atrophy, Op... |
OMIM:143200 |
Sialidosis Type 2 |
|
Corneal opacity, Tremor, Splenomegaly, Osteoporosis, Abnormal macular morphology, Hearing impairment |
ORPHA:87876 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Leukoencephalopathy With Vanishing White Matter 2 |
|
Cataract, Premature ovarian insufficiency, Optic atrophy, Secondary amenorrhea, Leukoencephalopathy |
OMIM:620312 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Corneal opacity, Reduced bone mineral density |
ORPHA:2370 |
Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Miscarriage, Abnormality of the menstrual cycle, Decreased fertility ... |
ORPHA:137686 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Microcephaly, Chorioretin... |
OMIM:152950 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Microcephaly, Thrombocytopenia, S... |
ORPHA:290 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cataract, Cryptorchidism, Hypogonadism, Retinal coloboma, Microphthalmia, Rod-cone dystrophy |
OMIM:601794 |
Walker-Warburg Syndrome |
|
Hypoplasia of penis, Anophthalmia, Chorioretinal dysplasia, Protruding ear, Microcornea, Abnormal... |
ORPHA:899 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hypertrophic cardiomyopathy, Cataract |
ORPHA:79281 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias |
OMIM:241100 |
Leber Congenital Amaurosis 4 |
|
Keratoconus, Optic disc pallor, Cone/cone-rod dystrophy, Macular atrophy, Attenuation of retinal ... |
OMIM:604393 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
N Syndrome |
|
Cryptorchidism, Abnormality of chromosome stability, Hypospadias |
OMIM:310465 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Cataract, Sensorineural hearing impairment, Fundus atrophy, Optic disc drusen, Pigme... |
OMIM:204000 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Hearing impairment |
OMIM:120433 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Cataract, Aplasia/Hypoplasia of the cerebellar vermis, Hand tremor, Agenesis of corpus callosum, ... |
ORPHA:401830 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Macrocephaly at birth, Developmental cataract, Coloboma, Retinal dysplasia, Microphthalmia, Ocula... |
ORPHA:324416 |
Mucolipidosis Type Iii |
|
Craniofacial hyperostosis, Corneal opacity, Reduced bone mineral density |
ORPHA:577 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614840 |
Cataract 11, Multiple Types |
|
Microphthalmia, Cataract, Developmental cataract |
OMIM:610623 |
Leber Congenital Amaurosis |
|
Keratoconus, Abnormality of retinal pigmentation, Cataract, Aplasia/Hypoplasia of the cerebellar ... |
ORPHA:65 |
Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... |
OMIM:612310 |
Congenital Varicella Syndrome |
|
Microphthalmia, Cataract, Cerebral cortical atrophy, Microcephaly |
ORPHA:291 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microcoria, Optic pit, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:616428 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Retinal dystrophy, Facial palsy, Microcephaly, Developmental catara... |
OMIM:613155 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract, Attenuation of retinal blood vessels |
OMIM:613826 |
Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... |
OMIM:613835 |
Microphthalmia, Isolated 6 |
|
Microcornea, Microphthalmia, Retinal fold |
OMIM:613517 |
Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
Birdshot Chorioretinopathy |
|
Optic disc pallor, Retinal detachment, Cataract, Choroidal neovascularization, Abnormal chorioret... |
ORPHA:179 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Schizencephaly, Cortical dysplasia, Porencephalic cyst, Microcornea, Hypoplasia of the iris, Limb... |
OMIM:175780 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... |
OMIM:616950 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Hypogonadotropic hypogonadism, Underdeveloped superior crus of antihelix, Cerebral dysmyelination... |
ORPHA:293967 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28, Congenital macroorchidism |
OMIM:300624 |
Premature Ovarian Failure 5 |
|
Streak ovary, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hypoplas... |
OMIM:611548 |
Ovarian Dysgenesis 2 |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... |
OMIM:300510 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... |
OMIM:620356 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Thyroiditis, Keratoconjunctivitis s... |
OMIM:617388 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... |
ORPHA:91495 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Macular dystrophy, Corneal dystrophy, Recurrent corneal ero... |
OMIM:217800 |
Erythrokeratodermia Variabilis |
|
Cataract, Corneal opacity, Diabetes mellitus, Microcephaly, Protruding ear, Abnormal testis morph... |
ORPHA:317 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:610092 |
Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... |
OMIM:614170 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Relative macrocephaly, Increased bone mineral density, Cataract, Posteriorly rotated ears, Congen... |
OMIM:617306 |
Xp22.3 Microdeletion Syndrome |
|
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries, Opa... |
ORPHA:1643 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
Lissencephaly 8 |
|
Cataract, Microcephaly, Optic atrophy, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hypopl... |
OMIM:617255 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Fanconi Anemia, Complementation Group G |
|
Abnormality of chromosome stability, Microcephaly, Anemia, Neutropenia, Microphthalmia, Leukemia,... |
OMIM:614082 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Hypoplasia of the ... |
OMIM:614841 |
Bardet-Biedl Syndrome 18 |
|
Rod-cone dystrophy, Cataract, Retinal dystrophy |
OMIM:615995 |
Gómez-López-Hernández Syndrome |
|
Cerebellar vermis hypoplasia, Corneal opacity, Low-set ears |
ORPHA:1532 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Premature ovarian insufficiency... |
ORPHA:3156 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
Ataxia-Telangiectasia |
|
Abnormality of chromosome stability, Diabetes mellitus, Failure to thrive, Polycystic ovaries, De... |
ORPHA:100 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia, Chorioretinal dysplasia, Microcephaly |
OMIM:616335 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Corneal opacity, Remnants of the hyaloid vascular system, Morning glory anom... |
OMIM:120200 |
Brittle Cornea Syndrome 1 |
|
Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness, Macrocephaly,... |
OMIM:229200 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Splenomegaly, Optic atrophy, Cerebral atrophy, Reduce... |
ORPHA:404454 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract, Hypogonadism |
OMIM:254000 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Optic disc pallor, Cataract, Cryptorchidism, Secondary microcephaly, Cerebellar hypoplasia, Micro... |
OMIM:613730 |
Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, L... |
OMIM:310600 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Cataract, Osteoporosis, Increased bone density with cystic change... |
OMIM:136300 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Eunuchoid habitus, Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Fem... |
ORPHA:432 |
Leber Congenital Amaurosis 9 |
|
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... |
OMIM:608553 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cataract, Cryptorchidism, Abnormal antihelix morphology, Chorioretinal coloboma, Hypoplasia of th... |
ORPHA:2489 |
Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Eosinophilia, Keratoconjunctivitis, Melena, Opacification of the corneal stroma, Cornea... |
OMIM:158310 |
Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Obstructive azoospermia |
OMIM:301060 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Phthisis bulbi, Hyphema, Leuk... |
OMIM:221900 |
Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma, Hear... |
OMIM:610023 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma |
OMIM:614497 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... |
OMIM:617565 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Cataract, Microcephaly, Epiphyseal stippling, Hypogonadism, Hearing impairment |
OMIM:302950 |
Alpha-Mannosidosis, Adult Form |
|
Osteopenia, Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Mixed hearing impairment,... |
ORPHA:309288 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Cataract, Vacuolated lymphocytes, Optic atrophy, Concentric hypertrophic cardiomyopathy, Cerebral... |
OMIM:204200 |
Ovarian Dysgenesis 10 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:619834 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Corneal opacity, Hypertension, Osteolysis involving tarsal bones, Metatarsal osteolys... |
OMIM:166300 |
Atopic Keratoconjunctivitis |
|
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization |
ORPHA:163934 |
Fragile X Syndrome |
|
Macroorchidism, Folate-dependent fragile site at Xq28 |
ORPHA:908 |
2Q24 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Cataract, Abnormality iris morphology, Coloboma, Microphthalmia |
ORPHA:1617 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Corneal neovascularization, Limbal stem cell deficiency |
OMIM:615225 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Retinal detachment, Cataract, Optic nerve hypoplasia, Hypoplasia of the pons, Leukoencephalopathy... |
OMIM:615181 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Microphthalmia, Isolated 2 |
|
Microphthalmia, Opacification of the corneal stroma |
OMIM:610093 |
Brittle Cornea Syndrome |
|
Retinal detachment, Corneal dystrophy, Corneal erosion, Sensorineural hearing impairment, Osteopo... |
ORPHA:90354 |
Alpha-Mannosidosis |
|
Craniofacial hyperostosis, Cataract, Corneal opacity, Splenomegaly, Type II diabetes mellitus, Ab... |
ORPHA:61 |
Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma... |
OMIM:614500 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... |
OMIM:305390 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Folate-dependent fragile site at Xq28, Decreased serum insulin-like growth factor... |
ORPHA:85327 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Agyria, Cataract, Optic nerve hypoplasia, Type II lissencephaly, Peters anoma... |
OMIM:614643 |
Linear Verrucous Nevus Syndrome |
|
Aplasia/Hypoplasia of the fovea, Cataract, Aplasia/Hypoplasia of the corpus callosum, Reduced bon... |
ORPHA:2611 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... |
OMIM:619949 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Chromosome breakage, Pancytopenia, Aplastic anemia, Retinal dystrophy, Mi... |
OMIM:617052 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Sensorineural hearing impairment, Cataract, Developmental cataract |
OMIM:613076 |
Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... |
ORPHA:98960 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Keratoconus 9 |
|
Keratoconus, Decreased corneal thickness |
OMIM:617928 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Cataract, Microcephaly, Abnormally large globe, Sensorineural hearing impairment, Coloboma, Hypop... |
OMIM:615249 |
Kid Syndrome |
|
Recurrent cutaneous abscess formation, Cerebellar vermis hypoplasia, Keratitis, Punctate keratiti... |
ORPHA:477 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Cerebellar vermis hypoplasia, Abnormal auditory evoked potentials, Hypoplasia ... |
OMIM:617523 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Optic disc pallor, Vaginal hernia, Cataract, Microcephaly, Aplasia/Hypoplasia of the corpus callo... |
ORPHA:3173 |
Warburg-Cinotti Syndrome |
|
Hypoplasia of the ear cartilage, Posteriorly rotated ears, Symblepharon, Retinal dystrophy, Osteo... |
OMIM:618175 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
Lissencephaly 5 |
|
Cerebellar vermis hypoplasia, Cataract, Porencephalic cyst, Subcortical band heterotopia, Optic a... |
OMIM:615191 |
Congenital Primary Aphakia |
|
Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi... |
ORPHA:83461 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Cataract, Macular coloboma, Abnormal auditory evoked potentials, Macular atrop... |
OMIM:619260 |
Zellweger Syndrome |
|
Posterior embryotoxon, Cataract, Corneal opacity, Hypospadias, Abnormal chorioretinal morphology,... |
ORPHA:912 |
Bloom Syndrome |
|
Chromosome breakage, Abnormality of chromosome stability, Small for gestational age, Decreased fe... |
OMIM:210900 |
Retinitis Pigmentosa 40 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo... |
OMIM:613801 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Macular atrophy, Shallow anterior chamber, Cystoid macular degeneration, Microphthalmia, Retinal ... |
OMIM:267760 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, Cataract |
OMIM:619813 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Primary amenorrhea, Micro... |
OMIM:618841 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Cataract, Low-set ears, Ambiguous genitalia, Microphthalmia, Decreased skull ossification, Agenes... |
ORPHA:93267 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:611638 |
46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... |
OMIM:193220 |
Martsolf Syndrome 2 |
|
Cataract, Hypogonadotropic hypogonadism, Microcephaly, Developmental cataract, Hypoplasia of the ... |
OMIM:619420 |
Mucolipidosis Type Iv |
|
Abnormality of retinal pigmentation, Corneal opacity, Microcephaly, EEG abnormality, Biparietal n... |
ORPHA:578 |
Corneal Dystrophy And Perceptive Deafness |
|
Sensorineural hearing impairment, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Retinal detachment, Catarac... |
ORPHA:93296 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... |
ORPHA:983 |
Gombo Syndrome |
|
Microphthalmia, Delayed puberty, Microcephaly |
OMIM:233270 |
Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Absent septum pellucidum, Microcephaly, Decreased response to growth horm... |
OMIM:609053 |
Warburg Micro Syndrome 2 |
|
Cataract, Small scrotum, Asymmetry of the ears, Microcephaly, Cryptorchidism, Macrotia, Optic atr... |
OMIM:614225 |
Coats Disease |
|
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... |
ORPHA:190 |
Developmental And Epileptic Encephalopathy 35 |
|
Cataract, Microcephaly, Limb tremor, Cerebral atrophy, Cardiomyopathy |
OMIM:616647 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... |
OMIM:604229 |
Ring Dermoid Of Cornea |
|
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity, Cryptorchidism, Acute leukemia, Lissencephaly, Hypogonadism, Testicular seminoma |
ORPHA:281090 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Cataract, Posteriorly rotated ears, Reduced bone mineral density, Delayed ossification of carpal ... |
OMIM:618392 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... |
OMIM:610256 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Microcephaly, Leukocoria, ... |
ORPHA:2714 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Cataract, Hypergonadotropic hypogonadism, Tremor, Pigmentary retinopathy, Rod-cone dystrophy, Int... |
OMIM:614307 |
Hypogonadism-Cataract Syndrome |
|
Cataract, Hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Mal... |
OMIM:240950 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
Rothmund-Thomson Syndrome, Type 1 |
|
Premature ovarian insufficiency, Osteoporosis, Male hypogonadism, Juvenile cataract, Hypothyroidism |
OMIM:618625 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Epiretinal membrane, Opacification of the corneal stroma |
OMIM:148200 |
Morm Syndrome |
|
Micropenis, Cataract, Retinal dystrophy, Retinal atrophy |
ORPHA:75858 |
Keratoconus 1 |
|
Keratoconus, Astigmatism |
OMIM:148300 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Pierpont Syndrome |
|
Posteriorly rotated ears, Abnormal cortical gyration, Uplifted earlobe, Cryptorchidism, Microcorn... |
ORPHA:487825 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Corneal opacity, External genital hypoplasia, Microcephaly, Cryptorchidism, Heart murmu... |
ORPHA:1867 |
Microphthalmia, Syndromic 8 |
|
Microcornea, Cryptorchidism, Microphthalmia, Microcephaly |
OMIM:601349 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uterus, Gonadoblastoma, Ab... |
OMIM:194072 |
Micro Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Hypoplasia of penis, Cere... |
ORPHA:2510 |
Maternally-Inherited Diabetes And Deafness |
|
Cataract, Abnormal chorioretinal morphology, Congestive heart failure, Sensorineural hearing impa... |
ORPHA:225 |
Warburg Micro Syndrome 4 |
|
Decreased testicular size, Decreased motor nerve conduction velocity, Small scrotum, Cryptorchidi... |
OMIM:615663 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... |
OMIM:212550 |
Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Cataract, Anophthalmia, Optic nerve hypoplasia, Retinal dystrophy, C... |
OMIM:610125 |
Fanconi Anemia, Complementation Group S |
|
Chromosome breakage, Failure to thrive, Ovarian carcinoma, Ovarian neoplasm |
OMIM:617883 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Epiphyseal stippling, Cataract |
OMIM:614876 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Coloboma, Hypoplasia of the brainstem, Retinal dysplasia, Megalocornea, Pachygyria, Agenesis of c... |
OMIM:236670 |
Sjogren-Larsson Syndrome |
|
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Opacification of the corn... |
OMIM:270200 |
Warburg Micro Syndrome 3 |
|
Decreased testicular size, Cataract, Small scrotum, Microcephaly, Hypoplastic labia minora, Macro... |
OMIM:614222 |
Leukodystrophy, Hypomyelinating, 24 |
|
Decreased motor nerve conduction velocity, Cataract, Microcephaly, Cerebral atrophy, B lymphocyto... |
OMIM:619851 |
Spondylo-Ocular Syndrome |
|
Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Osteoporosis, Abnormal antihelix mo... |
ORPHA:85194 |
Harel-Yoon Syndrome |
|
Corneal opacity, Optic atrophy, Developmental cataract, Dystonia, Hypertrophic cardiomyopathy |
OMIM:617183 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Cataract, Small scrotum, Microcephaly, Developmental cataract, Microphthalmia, Micropenis, Hearin... |
OMIM:610756 |
Exudative Vitreoretinopathy 4 |
|
Osteopenia, Peripheral retinal avascularization, Posterior vitreous detachment, Vitreous hemorrha... |
OMIM:601813 |
Scheie Syndrome |
|
Aortic regurgitation, Aortic valve stenosis, Corneal opacity, Retinal degeneration |
OMIM:607016 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Corneal arcus, Cataract |
OMIM:618463 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Primary ameno... |
OMIM:615300 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... |
OMIM:180104 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cataract, Corneal opacity, Optic nerve hypoplasia, Cryptorchidism, Optic atrophy, Delayed puberty... |
ORPHA:496790 |
Nathalie Syndrome |
|
Abnormal EKG, Cataract, Hearing impairment |
OMIM:255990 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Corneal opacity, Abnormality of bone mineral density |
ORPHA:2741 |
Premature Ovarian Failure 8 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:615723 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c... |
OMIM:613731 |
Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Microcephaly, Splenomegaly, Senso... |
ORPHA:585 |
Sialidosis Type 1 |
|
Cataract, Corneal opacity, Decreased nerve conduction velocity, Splenomegaly, Sensorineural heari... |
ORPHA:812 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Attached earlobe, Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal p... |
OMIM:616108 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Cerebellar vermis hypoplasia, Focal polymicrogyria, Dysgenesis of the basal ganglia, Partial agen... |
OMIM:615771 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Cataract, Ambiguous genitalia, Microcepha... |
ORPHA:2772 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... |
OMIM:614292 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Cataract, Microcephaly, Astigmatism, Microphthalmia, Macrotia, Thin corpus callosum |
OMIM:619694 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... |
ORPHA:399808 |
Hemochromatosis, Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... |
OMIM:235200 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308750 |
Xeroderma Pigmentosum, Complementation Group B |
|
Cataract, Microcephaly, Decreased nerve conduction velocity, Basal ganglia calcification, Sensori... |
OMIM:610651 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Abnormal left ventricular function, Leukopenia, Micropenis, Agenesis of corpus callosum, Hypospad... |
OMIM:301056 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy, Cerebral atrophy |
OMIM:160900 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... |
ORPHA:91 |
Premature Ovarian Failure 21 |
|
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... |
OMIM:620311 |
Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... |
OMIM:615724 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Micropenis, Cataract, Retinal dystrophy |
OMIM:610156 |
22Q11.2 Deletion Syndrome |
|
Hypoplasia of the thymus, Abnormality of the uterus, Conductive hearing impairment, Small earlobe... |
ORPHA:567 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Retinal detachment, Cataract, Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hypoplasia... |
ORPHA:370959 |
Hurler-Scheie Syndrome |
|
Corneal opacity, Splenomegaly, Sensorineural hearing impairment, Cardiomyopathy, Abnormal nerve c... |
ORPHA:93476 |
Sanjad-Sakati Syndrome |
|
Low-set, posteriorly rotated ears, Hypoparathyroidism, Hypoplasia of penis, Corneal opacity, Patc... |
ORPHA:2323 |
Flynn-Aird Syndrome |
|
Cerebral calcification, Cataract, Abnormality of the thyroid gland, Bone cyst, Primary adrenal in... |
ORPHA:2047 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
Keratoconus 6 |
|
Keratoconus |
OMIM:614623 |
Keratoconus 5 |
|
Keratoconus |
OMIM:614622 |
Keratoconus 8 |
|
Keratoconus |
OMIM:614628 |
Keratoconus 7 |
|
Keratoconus |
OMIM:614629 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria, Microcephaly |
OMIM:257910 |
Pierpont Syndrome |
|
Posteriorly rotated ears, Microcephaly, Cryptorchidism, Microcornea, Large fleshy ears, Microphth... |
OMIM:602342 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Low-set ears, Microphthalmia, Oc... |
OMIM:615145 |
1Q21.1 Microduplication Syndrome |
|
Cryptorchidism, Cataract, Hypospadias, Macrocephaly |
ORPHA:250994 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Rieger anomaly, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Macrocepha... |
OMIM:109120 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Cataract, Premature ovarian insufficiency |
ORPHA:2278 |
Eosinophilopenia |
|
Autoimmunity |
OMIM:131430 |
3Q29 Microduplication Syndrome |
|
Cataract, Sclerocornea, Craniosynostosis, Microcephaly, Biparietal narrowing, Low-set ears, Macro... |
ORPHA:251038 |
Galactosemia Ii |
|
Cataract |
OMIM:230200 |
Nance-Horan Syndrome |
|
Retinal detachment, Cataract, Protruding ear, Microcornea, Microphthalmia |
ORPHA:627 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Cataract, Corneal opacity, Microcephaly, Cryptorchidism, Sensorineural hearing impairment, Ocular... |
ORPHA:2719 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea... |
ORPHA:1916 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... |
OMIM:618220 |
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder |
|
Cataract, Microcephaly, Cerebral atrophy, Macrotia, Dandy-Walker malformation |
OMIM:616154 |
Ovarian Dysgenesis 3 |
|
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... |
OMIM:614324 |
Norrie Disease |
|
Sclerocornea, Abnormal pupil morphology, Protruding ear, Hypoplasia of the iris, Uterine rupture,... |
ORPHA:649 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Corneal opacity, Coarse metaphyseal trabecularization |
OMIM:618961 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Premature ovarian insufficiency, Hypoplasia of the ovary |
OMIM:609993 |
Perrault Syndrome 2 |
|
Streak ovary, Amenorrhea |
OMIM:614926 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:608470 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... |
OMIM:614129 |
46,Xx Gonadal Dysgenesis |
|
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... |
ORPHA:243 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Oculoauricular Syndrome |
|
Sclerocornea, Microcornea, Iris cyst, Chorioretinal coloboma, Ocular anterior segment dysgenesis,... |
OMIM:612109 |
4H Leukodystrophy |
|
Cataract, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, A... |
ORPHA:289494 |
Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy, Microcephaly |
OMIM:618165 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... |
OMIM:619938 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Facial palsy, Tremor, Abnormal cranial nerve morphology, Hypertension, Progres... |
ORPHA:97229 |
Temtamy Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Low-set ears, Macrocephaly, Chorioretinal coloboma, Mi... |
ORPHA:1777 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Diffuse cerebral atrophy, Cataract, Microcephaly, Basal ganglia calcification, Cryptorchidism, Se... |
OMIM:214150 |
Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Abnormal EKG, Cataract, Corneal opacity, Optic atrophy, Hepatosplenomega... |
ORPHA:93400 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Cataract, Corneal opacity, Microcephaly, Abnormality of cartilage of external ear, Bilateral micr... |
ORPHA:2399 |
Bartsocas-Papas Syndrome 2 |
|
Corneal opacity, Antecubital pterygium, Popliteal pterygium, Low-set ears, Microphthalmia, Overfo... |
OMIM:619339 |
Premature Aging Syndrome, Okamoto Type |
|
Cataract, Abnormal pinna morphology, Diabetes mellitus, Microcephaly, Osteoporosis, Low-set ears |
OMIM:601811 |
X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
Craniotelencephalic Dysplasia |
|
Low-set, posteriorly rotated ears, Septo-optic dysplasia, Craniosynostosis, Microcephaly, Optic a... |
ORPHA:1528 |
Dermatitis, Atopic |
|
Keratoconus, Cataract, Conjunctivitis |
OMIM:603165 |
X-Linked Intellectual Disability, Miles-Carpenter Type |
|
Microcornea, Hypogonadism |
ORPHA:85283 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Septo-optic dysplasia, Cataract, Cryptorchidism, Optic atrophy, Mi... |
ORPHA:3301 |
Pierson Syndrome |
|
Retinal vascular tortuosity, Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the cili... |
OMIM:609049 |
Cat-Eye Syndrome |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma, Hearing impairment |
ORPHA:195 |
Microcephaly 1, Primary, Autosomal Recessive |
|
Small cerebral cortex, Primary microcephaly |
OMIM:251200 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Low-set, posteriorly rotated ears, Small scrotum, Hypospadias, Microcephaly, External ear malform... |
ORPHA:2505 |
Immunodeficiency 54 |
|
Chromosome breakage, Failure to thrive, Adrenal insufficiency, Adrenocorticotropic hormone excess |
OMIM:609981 |
Diabetes Mellitus, Ketosis-Prone |
|
Autoimmunity |
OMIM:612227 |
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 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Hypergonadotropic hypogonadism, Cryptorchidism, Se... |
ORPHA:3085 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Abnormality of chromosome stability, Pancytopenia, Microcephaly |
OMIM:600546 |
Brachyolmia Type 1, Toledo Type |
|
Precocious costochondral ossification, Opacification of the corneal stroma |
OMIM:271630 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Hypergonadotropic hypogonadism, Small for gestational age, Cryptorchidism, Defi... |
OMIM:227650 |
Stickler Syndrome, Type V |
|
Retinal detachment, Sensorineural hearing impairment, Cataract, Vitreoretinopathy |
OMIM:614284 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Decreased testicular size, Cataract, Hearing impairment, Corpus callosum atrophy, Cerebral atroph... |
ORPHA:320391 |
Wagr Syndrome |
|
Cataract, Microcephaly, Cryptorchidism, Aplasia/Hypoplasia of the iris, Ambiguous genitalia, Disp... |
ORPHA:893 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microcephaly, Optic atrophy, Cerebral atrophy, Coloboma, Microphthalmia, Agenesis of corpus callosum |
OMIM:274270 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
Lowry-Maclean Syndrome |
|
Osteopenia, Corneal opacity, Hypospadias, Craniosynostosis, Microcephaly, Bilateral cryptorchidis... |
ORPHA:2409 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Classic Galactosemia |
|
Male infertility, Decreased serum insulin-like growth factor 1, Cataract, Premature ovarian insuf... |
ORPHA:79239 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Thick cerebral cortex, Cerebellar vermis hypoplasia, Corneal opacity, Dystonia, Dysplastic corpus... |
ORPHA:357058 |
Cystinosis |
|
Corneal opacity, Portal hypertension, Nephrogenic diabetes insipidus, Hypothyroidism, Rickets, De... |
ORPHA:213 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
3-Methylglutaconic Aciduria Type 4 |
|
Cataract, Iris hypopigmentation, Microcephaly, Cardiomyopathy, Thrombocytopenia, Hearing impairment |
ORPHA:67048 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... |
OMIM:193230 |
Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... |
ORPHA:41751 |
Cutis Laxa, Autosomal Dominant 3 |
|
Osteopenia, Aortic regurgitation, Corneal opacity, Microcephaly, Developmental cataract, Protrudi... |
OMIM:616603 |
Premature Ovarian Failure 12 |
|
Macular dystrophy, Microphthalmia, Primary amenorrhea |
OMIM:616947 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Bilateral cryptorchidism, Sensorineural hearing impairment, Coloboma, Se... |
OMIM:618652 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... |
OMIM:229070 |
Arthrogryposis, Distal, Type 5 |
|
Keratoconus, Abnormality of retinal pigmentation, Protruding ear, Keratoglobus, Astigmatism, Reti... |
OMIM:108145 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Revesz Syndrome |
|
Abnormality of chromosome stability, Cerebral calcification, Aplastic anemia, Leukocoria, Exudati... |
OMIM:268130 |
Adams-Oliver Syndrome 2 |
|
Microcephaly, Optic atrophy, Cerebral atrophy, Developmental cataract, Protruding ear, Cerebellar... |
OMIM:614219 |
Atelis Syndrome 2 |
|
Remnants of the hyaloid vascular system, Microcephaly, Elevated circulating thyroid-stimulating h... |
OMIM:620185 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Autoimmune hemolytic anemia, Autoimmunity, Systemic lupus erythematosus, Autoimmune thrombocytopenia |
ORPHA:444463 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Hypospadias, Absent septum pellucidum, Sclerocornea, Microcephaly, Ovotestis, Junctiona... |
OMIM:309801 |
Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability, Microcephaly |
OMIM:620153 |
Alg2-Cdg |
|
Abnormal basal ganglia MRI signal intensity, Cataract, Microcephaly, Hypsarrhythmia, Hypoplasia o... |
ORPHA:79326 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Increased susceptibility to spontaneous sister chromatid exchange, Dilated cardiomyopathy, Microc... |
OMIM:618097 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Hypospadias, Anophthalmia, Sclerocornea, Precocious puberty, Microcornea, Coloboma, Ect... |
OMIM:615877 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Corneal opacity, Precocious puberty, Hemimegalencephaly, Coloboma, Hypophosphatemic r... |
OMIM:163200 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Cataract, Microcephaly, Retinal pigment epithelial mottling, Hypoplasia of the corpus callosum, D... |
OMIM:614105 |
Fanconi Anemia, Complementation Group F |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Patent ductus arteriosus, ... |
OMIM:603467 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti... |
ORPHA:465508 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... |
ORPHA:98973 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... |
OMIM:305400 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Cerebellar vermis hypoplasia, Cataract, Microcytic anemia, Optic atrophy, Coloboma, Low-set ears,... |
OMIM:612379 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o... |
OMIM:600059 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
Gm1 Gangliosidosis |
|
Generalized dystonia, Corneal opacity, Abnormal retinal vascular morphology, Splenomegaly, Tremor... |
ORPHA:354 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Rod-cone dystrophy, Cataract |
OMIM:619082 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Anophthalmia, Hypospadias, Sclerocornea, Cryptorchidism, Microphthalmia, Age... |
ORPHA:77298 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Retinal detachment, Increased bone mineral density, Cataract, Delayed patellar ossification, Abno... |
ORPHA:163649 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia, Sclerocornea |
OMIM:611038 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Cataract, Reduced systolic function, Microcytic anemia, Dilated cardiomyopathy, Cerebellar hypopl... |
OMIM:618805 |
Cockayne Syndrome B |
|
Tremor, Basal ganglia calcification, Ivory epiphyses of the phalanges of the hand, Microcornea, H... |
OMIM:133540 |
Temtamy Syndrome |
|
Aortic regurgitation, Ectopia lentis, Lens luxation, Lop ear, Thick corpus callosum, Low-set ears... |
OMIM:218340 |
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
|
Macrotia, Cataract, Low-set ears, Microcephaly |
ORPHA:3433 |
Alg3-Cdg |
|
Osteopenia, Cerebral white matter atrophy, Cataract, Abnormal pinna morphology, Microcephaly, Hyp... |
ORPHA:79321 |
Sengers Syndrome |
|
Osteopenia, Cataract, Premature ovarian insufficiency, Cardiac arrest, Sudden cardiac death, Deve... |
OMIM:212350 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
Nanophthalmos |
|
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
8Q21.11 Microdeletion Syndrome |
|
Hypoplasia of penis, Cataract, Corneal opacity, Sclerocornea, Hearing impairment, Cryptorchidism,... |
ORPHA:284160 |
Prune1-Related Neurological Syndrome |
|
Cataract, Microcephaly, Optic atrophy, Cerebral atrophy, EEG abnormality, Low-set ears, Hypertrop... |
ORPHA:544469 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Immunoglobulin A Deficiency 2 |
|
Autoimmunity |
OMIM:609529 |
Keratoconus Posticus Circumscriptus |
|
Keratoconus, Central posterior corneal opacity |
OMIM:244600 |
Spermatogenic Failure 14 |
|
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... |
OMIM:615842 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Mitochondrial hypertrophy, Failure to thrive, Premature ovarian insufficiency, Female infertility |
OMIM:619518 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microcephaly, Cerebellar hypoplasia, Low-set ears, Microphthalmia, Agenesis of corpus callosum |
OMIM:616570 |
Bresek Syndrome |
|
Aganglionic megacolon, Optic nerve hypoplasia, Microcephaly, Cryptorchidism, Protruding ear, Low-... |
ORPHA:85284 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Cataract, Decreased nerve conduction velocity, Sensorineural hearing impairment, Choreoathetosis,... |
OMIM:614932 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
Wolfram Syndrome 1 |
|
Diabetes mellitus, Diabetes insipidus, Cerebral atrophy, Hypothyroidism, Testicular atrophy |
OMIM:222300 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Cataract, Premature ovarian insufficiency, Dystonia, Hyperintensity of cerebral white matter on M... |
ORPHA:101006 |
Idiopathic Uveal Effusion Syndrome |
|
Abnormal anterior eye segment morphology, Subretinal fluid, Exudative retinal detachment, Microph... |
ORPHA:209956 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... |
OMIM:228300 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Failure to thrive, Chromosomal breakage induced by crosslinking agents, Decreased body weight |
OMIM:619060 |
Cednik Syndrome |
|
Microcephaly, Congestive heart failure, Macrotia, Sensorineural hearing impairment, Optic atrophy... |
ORPHA:66631 |
Biemond Syndrome Type 2 |
|
Hypogonadotropic hypogonadism, Hypospadias, Coloboma, Hypogonadism, Delayed puberty, Microphthalmia |
ORPHA:141333 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... |
ORPHA:99429 |
X-Linked Intellectual Disability, Najm Type |
|
Cataract, Optic nerve hypoplasia, Microcephaly, Sensorineural hearing impairment, Optic atrophy, ... |
ORPHA:163937 |
Frasier Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... |
ORPHA:347 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia, Retinal degeneration |
OMIM:251700 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Developmental glaucoma, Corneal opacity, Craniosynostosis |
ORPHA:1064 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Cataract, Anophthalmia, Tremor, Basal ganglia calcification,... |
ORPHA:90321 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Microcephaly, Partial agenesis of the corpus callosum, Optic atrophy, Decreased fertility, Microc... |
OMIM:234050 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Cataract, Microcephaly, Precocious puberty, Simplified gyral pattern, Hypsarrhythmia, Macrotia, T... |
OMIM:619877 |
Autosomal Recessive Stickler Syndrome |
|
Retinal detachment, Cataract, Sensorineural hearing impairment, Astigmatism, Vitreoretinopathy |
ORPHA:250984 |
Neonatal Adrenoleukodystrophy |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Cataract, Sensorineural h... |
ORPHA:44 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Keratoconus, Ventricular escape rhythm, Hypsarrhythmia, Sick sinus syndrome, Bradycardia, Prolong... |
ORPHA:542306 |
Wilson-Turner Syndrome |
|
Cataract, Hypogonadotropic hypogonadism, Uplifted earlobe, Cryptorchidism, Microtia |
ORPHA:3459 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Papilledema, Increased bone mineral density, Basal ganglia calcification, Dev... |
OMIM:127000 |
Lacrimoauriculodentodigital Syndrome |
|
Mixed hearing impairment, Increased corneal thickness, Abnormal pinna morphology, Cryptorchidism,... |
ORPHA:2363 |
Microtriplication 11Q24.1 |
|
Keratoconus, Attached earlobe, Posteriorly rotated ears, Microcephaly, Hearing impairment |
ORPHA:289522 |
Rere-Related Neurodevelopmental Syndrome |
|
Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Hypospadias, Cryptorchidism, Opt... |
ORPHA:494344 |
Otodental Syndrome |
|
High-frequency sensorineural hearing impairment, Cataract, Lens coloboma, Microcornea, Retinal co... |
ORPHA:2791 |
Edict Syndrome |
|
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Conductive hearing impairment, Cataract, Retinal thinning, Asteroid hyalosis |
OMIM:132450 |
Fanconi Anemia, Complementation Group E |
|
Hypergonadotropic hypogonadism, Small for gestational age, Cryptorchidism, Deficient excision of ... |
OMIM:600901 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Hypertrophic cardiomyopathy, Cataract, Corneal dystrophy |
ORPHA:1369 |
Satoyoshi Syndrome |
|
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... |
ORPHA:3130 |
Isolated Atp Synthase Deficiency |
|
Cataract, Microcephaly, Sensorineural hearing impairment, Dilated cardiomyopathy, Optic atrophy, ... |
ORPHA:254913 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Cataract, Retinopathy |
OMIM:183800 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Keratoconus, Optic disc hypoplasia, Optic nerve hypoplasia, Optic atrophy, Protruding ear, Hypopl... |
ORPHA:401777 |
Frontonasal Dysplasia 1 |
|
Pericallosal lipoma, Cataract, Coloboma, Low-set ears, Conductive hearing impairment, Microphthal... |
OMIM:136760 |
Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
Ichthyosis, X-Linked |
|
Testicular neoplasm, Opacification of the corneal stroma, Cryptorchidism |
OMIM:308100 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Cataract, Microcephaly, Optic atrophy, Protruding ear, Abnormal cerebral white matter morphology,... |
OMIM:617481 |
Laurence-Moon Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Cataract, Cryptorchidism, Sensorineural h... |
ORPHA:2377 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Cataract, Cerebral atrophy, Hand tremor, Infertility, Hypoplasia of the corpus callosum, Head tre... |
OMIM:614409 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... |
OMIM:616468 |
Fanconi Anemia, Complementation Group B |
|
Abnormality of chromosome stability, Aplastic anemia, Hypergonadotropic hypogonadism, Optic disc ... |
OMIM:300514 |
Cockayne Syndrome A |
|
Tremor, Basal ganglia calcification, Ivory epiphyses of the phalanges of the hand, Micropenis, Re... |
OMIM:216400 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Hypospadias, Cryptorchidism |
ORPHA:1381 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Cataract, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Sclerocorne... |
OMIM:206900 |
Bartsocas-Papas Syndrome |
|
Corneal opacity, Microcephaly, Popliteal pterygium, Hypoplastic male external genitalia, Ambiguou... |
ORPHA:1234 |
Leber Congenital Amaurosis 16 |
|
Optic disc pallor, Cataract |
OMIM:614186 |
Cimdag Syndrome |
|
Cerebellar vermis hypoplasia, Retinal dystrophy, Dystonia, Microcephaly, Sensorineural hearing im... |
OMIM:619273 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1 |
|
Cataract, Simplified gyral pattern, Hypoplasia of the brainstem, Cerebellar hypoplasia, Inferior ... |
OMIM:224050 |
Microphthalmia, Lenz Type |
|
Low-set, posteriorly rotated ears, Cataract, Hypospadias, Microcephaly, External ear malformation... |
ORPHA:568 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Protruding ear, Microcornea, Keratoconjunctivitis sicc... |
ORPHA:1806 |
Mevalonic Aciduria |
|
Low-set, posteriorly rotated ears, Cataract, Microcephaly, Splenomegaly, Cerebral cortical atrophy |
ORPHA:29 |
Fanconi Anemia, Complementation Group P |
|
Cryptorchidism, Chromosomal breakage induced by crosslinking agents |
OMIM:613951 |
Lig4 Syndrome |
|
Pancytopenia, Hypoplasia of penis, Abnormality of chromosome stability, Telangiectasia of the ski... |
ORPHA:99812 |
Bardet-Biedl Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Obesity, Hypoplasia of the ovary, Hypogonadism |
ORPHA:110 |
Fanconi Anemia, Complementation Group D1 |
|
Failure to thrive, Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents |
OMIM:605724 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitus, Cerebral atrophy, Polycystic... |
OMIM:268020 |
Stromme Syndrome |
|
Accessory spleen, Cerebellar vermis hypoplasia, Cataract, Optic nerve hypoplasia, Sclerocornea, M... |
OMIM:243605 |
Baraitser-Winter Syndrome 1 |
|
Microcephaly, Cryptorchidism, Sensorineural hearing impairment, Overfolded helix, Lissencephaly, ... |
OMIM:243310 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Cerebral calcification, Testicular atrophy |
OMIM:613987 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... |
OMIM:617519 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Low-set, posteriorly rotated ears, Cataract, Hypogonadotropic hypogonadism, Microcephaly, Cryptor... |
ORPHA:1387 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract, Fava bean-induced hemolytic anemia |
OMIM:618660 |
Trisomy 13 |
|
Cataract, Anophthalmia, Abnormal retinal vascular morphology, Cryptorchidism, Sensorineural heari... |
ORPHA:3378 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Cardiomyopathy, Cataract, Microcephaly |
OMIM:615352 |
Retinitis Pigmentosa 2 |
|
Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa... |
OMIM:312600 |
Transcobalamin Deficiency |
|
Abnormality of chromosome stability, Pancytopenia, Neutropenia, Lymphopenia, Thrombocytopenia |
ORPHA:859 |
Usher Syndrome Type 1 |
|
Cataract, Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortical cerebral atr... |
ORPHA:231169 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Fanconi Anemia |
|
Reduced bone mineral density, Leukopenia, Abnormality of the uterus, Abnormality of the hypothala... |
ORPHA:84 |
Vitamin K Antagonist Embryofetopathy |
|
Cataract, Optic atrophy, Epiphyseal stippling, Microtia, Aplasia/Hypoplasia affecting the eye, He... |
ORPHA:1914 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Galactokinase Deficiency |
|
Cataract, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Microcephaly, Sensorin... |
ORPHA:79237 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Cataract, Decreased nerve conduction velocity, Rod-cone dystrophy, Sensorineural hearing impairme... |
OMIM:612674 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Decreased response to growth hormone stimulation test, Microcephaly, Cryptorchidism, Pigmentary r... |
ORPHA:3363 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Pancytopenia, Cataract, Uplifted earlobe, Epiphyseal stippling, Type I diabetes mellitus, Hearing... |
ORPHA:251009 |
Spastic Paraplegia 5A, Autosomal Recessive |
|
Cataract, Postural tremor, Sensorineural hearing impairment, Optic atrophy, Hyperintensity of cer... |
OMIM:270800 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Mietens Syndrome |
|
Cataract, Corneal opacity, Sclerocornea, Microcephaly, Microcornea |
ORPHA:2557 |
Fanconi Anemia, Complementation Group R |
|
Radial dysplasia, Microcephaly, Chromosomal breakage induced by crosslinking agents, Bone marrow ... |
OMIM:617244 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... |
OMIM:619924 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14 |
|
Cataract, Microcephaly, Hypoplasia of the pons, Sensorineural hearing impairment, Cerebellar hypo... |
OMIM:615350 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ... |
OMIM:133780 |
Juvenile Sialidosis Type 2 |
|
Cataract, Corneal opacity, Optic atrophy, Hepatosplenomegaly, Low-set ears, Cherry red spot of th... |
ORPHA:93399 |
Wagro Syndrome |
|
Decreased testicular size, Cataract, Corneal opacity, Hypertension, Low-set ears, Aniridia, Hypop... |
OMIM:612469 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Fanconi Anemia, Complementation Group C |
|
Hypergonadotropic hypogonadism, Small for gestational age, Cryptorchidism, Bone marrow hypocellul... |
OMIM:227645 |
Kapur-Toriello Syndrome |
|
Cataract, Cryptorchidism, Polymicrogyria, Hypoplastic labia majora, Retinal coloboma, Low-set ear... |
OMIM:244300 |
Kapur-Toriello Syndrome |
|
Hypoplasia of penis, Posteriorly rotated ears, Dysplastic corpus callosum, Polymicrogyria, Hypopl... |
ORPHA:2328 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Chorioretinal dysplasia, Sclerocornea, Epispadias, Vitritis, Retinal dysplasia, Abn... |
ORPHA:2556 |
Gm1-Gangliosidosis, Type Iii |
|
Diffuse cerebral atrophy, Opacification of the corneal stroma, Dystonia |
OMIM:230650 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cerebral calcification, Cerebellar vermis hypoplasia, Cataract, Retinal dystrophy, Buphthalmos, H... |
OMIM:616538 |
Oculocerebrocutaneous Syndrome |
|
Corneal opacity, External ear malformation, Cryptorchidism, Aplasia/Hypoplasia of the corpus call... |
ORPHA:1647 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s... |
OMIM:616648 |
Craniotelencephalic Dysplasia |
|
Absent septum pellucidum, Optic nerve hypoplasia, Craniosynostosis, Lissencephaly, Cerebellar hyp... |
OMIM:218670 |
Werner Syndrome |
|
Cataract, Diabetes mellitus, Elevated hemoglobin A1c, Osteoporosis, Reduced bone mineral density,... |
OMIM:277700 |
Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
Candidiasis, Familial, 1 |
|
Abnormality of the endocrine system, Cutaneous anergy |
OMIM:114580 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Osteopenia, Hypogonadotropic hypogonadism, Cryptorchidism, Sensorineural hearing impairment, Prim... |
OMIM:147950 |
Usher Syndrome Type 3 |
|
Cataract, Sensorineural hearing impairment, Abnormal cochlea morphology, Astigmatism, Iris hypopi... |
ORPHA:231183 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, R... |
ORPHA:85167 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Sensorineural hearing impai... |
OMIM:268315 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Cataract, Dilated cardiomyopathy, Optic atrophy, Aplasia/Hypoplasia of the corpus callosum, EEG a... |
ORPHA:272 |
Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... |
ORPHA:2232 |
Rodrigues Blindness |
|
Microcornea, Microphthalmia, Sclerocornea, Protruding ear |
OMIM:268320 |
Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Female infertility, Goiter |
OMIM:617577 |
Nijmegen Breakage Syndrome-Like Disorder |
|
Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, ... |
ORPHA:280679 |
Congenital Fibrinogen Deficiency |
|
Tachycardia, Hemorrhagic ovarian cyst, Internal hemorrhage, Splenic rupture, Developmental catara... |
ORPHA:335 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Cataract, Microcephaly, Sensorineural hearing impairment, Hypsarrhythmia, Thin corpus callosum, I... |
OMIM:607906 |
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 |
Developmental And Epileptic Encephalopathy 1 |
|
Microcephaly, EEG with burst suppression, Hypsarrhythmia, Choreoathetosis, Dystonia, Microphthalm... |
OMIM:308350 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Cataract, Sclerocornea, Cryptorchidism, Sensorineural hearing impairment, Protruding ear, Pigment... |
OMIM:614230 |
Frontofacionasal Dysplasia |
|
Cataract, Brushfield spots, Microcornea, Hypoplasia of olfactory tract, Hypoplasia of the corpus ... |
ORPHA:1791 |
Incontinentia Pigmenti |
|
Retinal detachment, Cataract, Corneal opacity, Eosinophilia, Abnormal chorioretinal morphology, T... |
ORPHA:464 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Retinal detachment, Exaggerated startle response, Agyria, Cataract, Hypoplasia of the pyramidal t... |
OMIM:253800 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Diffuse cerebral atrophy, Cerebellar vermis hypoplasia, Cataract, Periventricular white matter hy... |
ORPHA:543470 |
Familial Dysautonomia |
|
Orthostatic hypotension, Tachycardia, Corneal opacity, Corneal erosion, Abnormal pupil morphology... |
ORPHA:1764 |
Cach Syndrome |
|
Cataract, Premature ovarian insufficiency, Microcephaly, Progressive macrocephaly, Optic atrophy,... |
ORPHA:135 |
Hypomelanosis Of Ito |
|
Cataract, Microcephaly, Cerebral atrophy, Macrocephaly, Iris coloboma |
OMIM:300337 |
Sandestig-Stefanova Syndrome |
|
Developmental cataract, EEG abnormality, Hypoplasia of the corpus callosum, Primary microcephaly,... |
OMIM:618804 |
Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... |
ORPHA:206484 |
Chromosome Xp11.3 Deletion Syndrome |
|
Cataract, Microcephaly, Cryptorchidism, Posterior subcapsular cataract, Optic atrophy, Pigmentary... |
OMIM:300578 |
Gapo Syndrome |
|
Keratoconus, Dysmenorrhea, Optic atrophy, Amenorrhea, Oligozoospermia, Hypogonadism, Low-set ears... |
ORPHA:2067 |
Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Kahrizi Syndrome |
|
Cataract, Iris coloboma |
OMIM:612713 |
Curry-Jones Syndrome |
|
Craniosynostosis, Optic disc coloboma, Microphthalmia, Agenesis of corpus callosum, Iris coloboma |
ORPHA:1553 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
Baralle-Macken Syndrome |
|
Dystonia, Cataract, Global brain atrophy, Microcephaly |
OMIM:619255 |
Trichothiodystrophy 3, Photosensitive |
|
Cataract, Bilateral cryptorchidism, Developmental cataract, Low-set ears, Neutropenia, Microphtha... |
OMIM:616395 |
Metatropic Dysplasia |
|
Low-set, posteriorly rotated ears, Cataract, Abnormal enchondral ossification, Abnormal cortical ... |
ORPHA:2635 |
Short Syndrome |
|
Posterior embryotoxon, Diabetes mellitus, Corneal opacity, Abnormal pupil morphology, Sensorineur... |
ORPHA:3163 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Angelman Syndrome |
|
Keratoconus, Optic disc pallor, Precocious puberty in females, Cerebral dysmyelination, Microceph... |
ORPHA:72 |
Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation, Cerebral calcification, Microcephaly, Anemia, Microphthalmia... |
ORPHA:858 |
Mosaic Variegated Aneuploidy Syndrome |
|
Low-set, posteriorly rotated ears, Aortic regurgitation, Ambiguous genitalia, Cataract, Corneal o... |
ORPHA:1052 |
Refsum Disease |
|
Abnormality of retinal pigmentation, Cataract, Heart block, Splenomegaly, Sensorineural hearing i... |
ORPHA:773 |
Mmep Syndrome |
|
Microphthalmia, Cryptorchidism, Microcephaly |
ORPHA:3434 |
Stickler Syndrome, Type Ii |
|
Retinal detachment, Sensorineural hearing impairment, Cataract, Abnormal vitreous humor morphology |
OMIM:604841 |
Triploidy |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Cataract, Hypospadias, Cryptorchidism, Ap... |
ORPHA:3376 |
Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Cataract, Irregular menstruation, Astigmatism, Rod-cone ... |
OMIM:615986 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Macrocytic anemia, Cataract, Diabetes mellitus, Morning glory anomaly, Corpus callosum atrophy, B... |
ORPHA:98673 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Hypergonadotropic hypogonadism, Abnormality of the middle ear ossicles, Conduct... |
ORPHA:90646 |
Oculomaxillofacial Dysostosis |
|
Aplasia/Hypoplasia affecting the eye, Corneal opacity |
ORPHA:1794 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Decreased serum testosterone concentration, Cataract, Hypospadias, Hypergonadotropic ... |
ORPHA:2959 |
Gyrate Atrophy Of Choroid And Retina |
|
Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Chorioretinal atrophy, Sub... |
ORPHA:414 |
Recessive X-Linked Ichthyosis |
|
Cryptorchidism, Opacification of the corneal stroma |
ORPHA:461 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Cerebral calcification, Corneal opacity, Absent septum pellucidum, Bon... |
ORPHA:2396 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Facial palsy, Thrombocytopenia, Chromosomal breakage induce... |
OMIM:616435 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Cataract, Posteriorly rotated ears, Microcephaly, Cryptorchidism, Sensorineural hearing impairmen... |
OMIM:618958 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Au... |
OMIM:615559 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Posteriorly rotated ears, Corneal opacity, Keratitis, Microtia, Conjunctivitis |
OMIM:602562 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Generalized bone demineralization, Opacification of the corneal stroma, Abnormal T cell morphology |
OMIM:215250 |
De Barsy Syndrome |
|
Osteopenia, Cerebellar vermis hypoplasia, Corneal opacity, Cataract, Abnormal fundus fluorescein ... |
ORPHA:2962 |
Pseudohypoparathyroidism, Type Ia |
|
Cataract, Basal ganglia calcification, Choroid plexus calcification, Osteoporosis, Pseudohypopara... |
OMIM:103580 |
Pseudohypoparathyroidism, Type Ic |
|
Cataract, Basal ganglia calcification, Choroid plexus calcification, Osteoporosis, Elevated circu... |
OMIM:612462 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Abnormally ossified vertebrae, Cataract, Abnormal pinna morphology, Sensorineural hearing impairm... |
ORPHA:35173 |
Srd5A3-Cdg |
|
Cataract, Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Microcyti... |
ORPHA:324737 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Hurler Syndrome |
|
Aortic regurgitation, Corneal opacity, Splenomegaly, Cranial hyperostosis, Hepatosplenomegaly, Ca... |
OMIM:607014 |
Carpenter Syndrome |
|
External genital hypoplasia, Craniosynostosis, Abnormal reproductive system morphology, Cryptorch... |
ORPHA:65759 |
Intermediate Uveitis |
|
Cataract, Vitreous haze, Band keratopathy, Epiretinal membrane, Vitreous floaters, Macular scar, ... |
ORPHA:279914 |
Isolated Aniridia |
|
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly |
ORPHA:250923 |
Borjeson-Forssman-Lehmann Syndrome |
|
Hypoplasia of penis, Cataract, Small scrotum, Microcephaly, Cryptorchidism, Large earlobe, Hypogo... |
ORPHA:127 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Retinal detachment, Delayed pubic bone ossification, Cataract, Hearing impairment |
ORPHA:1856 |
Osteopetrosis, Autosomal Recessive 8 |
|
Facial palsy, Splenomegaly, Optic atrophy, Unilateral microphthalmos, Anemia, Osteopetrosis, Macr... |
OMIM:615085 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Caudate atrophy, Generalized dystonia, Tremor, Sensorineural... |
ORPHA:52368 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Streak ovary, Hypospadias, Absent septum pellucidum, Cryptorchidism, Dysplastic corpus callosum, ... |
OMIM:618820 |
Fish-Eye Disease |
|
Splenomegaly, Corneal opacity, Angina pectoris |
ORPHA:79292 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
Fanconi Anemia, Complementation Group D2 |
|
Hypergonadotropic hypogonadism, Small for gestational age, Cryptorchidism, Patent ductus arterios... |
OMIM:227646 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Retinal detachment, Cataract, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Retin... |
OMIM:620157 |
Tyrosinemia Type 2 |
|
Tremor, Corneal opacity, Microcephaly |
ORPHA:28378 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cataract, Premature ovarian insufficiency, Diabetes mellitus, Abnormality of the thyroid gland, C... |
OMIM:609286 |
Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... |
ORPHA:90796 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Cataract, Reduced cerebral white matter volume, Simplified gyral pattern, Cerebral atrophy, Cereb... |
OMIM:615095 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Oculofaciocardiodental Syndrome |
|
Retinal detachment, Cataract, Ectopia lentis, Sensorineural hearing impairment, Microcornea, Micr... |
ORPHA:2712 |
Fanconi Anemia, Complementation Group J |
|
Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents |
OMIM:609054 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Multiple Sulfatase Deficiency |
|
Corneal opacity, Splenomegaly, Cerebral atrophy, Abnormal periventricular white matter morphology... |
OMIM:272200 |
Scheie Syndrome |
|
Aortic regurgitation, Corneal opacity, Splenomegaly, Sensorineural hearing impairment, Abnormal n... |
ORPHA:93474 |
46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Pontocerebellar Hypoplasia, Type 16 |
|
Cataract, Hypoplasia of the pons, Optic atrophy, Thin corpus callosum, Cerebellar hypoplasia, Low... |
OMIM:619527 |
Stickler Syndrome Type 1 |
|
Retinal detachment, Sensorineural hearing impairment, Cataract, Abnormal vitreous humor morphology |
ORPHA:90653 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cataract, Hypospadias, Uplifted earlobe, Microcephaly, Cerebral atrophy, Microcornea, Pulmonary a... |
OMIM:616449 |
Neuraminidase Deficiency |
|
Cataract, Bone-marrow foam cells, Splenomegaly, Sensorineural hearing impairment, Vacuolated lymp... |
OMIM:256550 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo... |
ORPHA:67043 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract, Irregular tarsal ... |
OMIM:221800 |
Encephalocraniocutaneous Lipomatosis |
|
Sclerocornea, Cryptorchidism, Cortical dysplasia, Porencephalic cyst, Hypoplasia of the iris, Cer... |
OMIM:613001 |
Proteus-Like Syndrome |
|
Retinal detachment, Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Abnorm... |
ORPHA:2969 |
Peroxisome Biogenesis Disorder 7A (Zellweger) |
|
Cataract, Posteriorly rotated ears, Epiphyseal stippling, Low-set ears, Polymicrogyria |
OMIM:614872 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Cataract, Abnormality of retinal pigmentation |
ORPHA:35737 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Corneal dystrophy, Atrioventricular block, Redu... |
ORPHA:324 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Al-Gazali Syndrome |
|
Osteopenia, Corneal opacity, Sclerocornea |
OMIM:609465 |
Pseudopseudohypoparathyroidism |
|
Cataract, Osteoporosis, Pseudohypoparathyroidism |
OMIM:612463 |
Cln3 Disease |
|
Cataract, Bull's eye maculopathy, Vacuolated lymphocytes, Optic atrophy, Increased circulating an... |
ORPHA:228346 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Absent testis, Coloboma |
OMIM:613094 |
Rhizomelic Chondrodysplasia Punctata |
|
Epiphyseal stippling, Cataract, Microcephaly |
ORPHA:177 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Hypospadias, Aganglionic megacolon, Microcephaly, Keratitis, Cryptorchidism, Hypertension, Recurr... |
OMIM:308205 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
Nanophthalmos 4 |
|
Microphthalmia, Optic disc drusen |
OMIM:615972 |
Ruijs-Aalfs Syndrome |
|
Hypogonadism, Posterior subcapsular cataract, Cataract, Osteoporosis |
OMIM:616200 |
Tbck-Related Intellectual Disability Syndrome |
|
Hyperthyroidism, Corneal opacity, Decreased response to growth hormone stimulation test, Microcep... |
ORPHA:488632 |
Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Papilledema, Basal ganglia calcification, Bilateral microphthalmos, Developmental cataract, Retin... |
ORPHA:93325 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Pseudo-Torch Syndrome 1 |
|
Cerebral calcification, Cataract, Dystonia, Microcephaly, Splenomegaly, Lissencephaly, Cerebellar... |
OMIM:251290 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials, Abnormal basal ganglia morphology |
ORPHA:99852 |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Osteopenia, Osteoporosis, Absence of pubertal development, Hypogonadism, Hearing impairment |
OMIM:615267 |
Marinesco-Sjögren Syndrome |
|
Cataract, External genital hypoplasia, Microcephaly, Optic atrophy, Hypogonadism, Cerebellar hypo... |
ORPHA:559 |
Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Cataract, Neutropenia, Microcephaly |
ORPHA:2643 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Corneal opacity, Atrial fibrillation... |
ORPHA:137675 |
Hemochromatosis, Type 4 |
|
Diabetes mellitus, Cataract, Cardiomyopathy, Impotence, Arrhythmia, Anemia |
OMIM:606069 |
Peroxisome Biogenesis Disorder 11B |
|
Cataract, Hearing impairment, Hepatosplenomegaly |
OMIM:614885 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
Mucopolysaccharidosis Type 4 |
|
Macrocephaly, Corneal opacity, Hearing impairment, Reduced bone mineral density |
ORPHA:582 |
Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Meckel Syndrome |
|
Accessory spleen, Low-set, posteriorly rotated ears, Cataract, True hermaphroditism, Anophthalmia... |
ORPHA:564 |
Trichothiodystrophy |
|
Osteopenia, Partial agenesis of the corpus callosum, Protruding ear, Microcornea, Macular degener... |
ORPHA:33364 |
Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
Cerebrotendinous Xanthomatosis |
|
Osteopenia, Optic disc pallor, Resting tremor, Abnormal auditory evoked potentials, Optic neuropa... |
ORPHA:909 |
Premature Aging Syndrome, Penttinen Type |
|
Corneal opacity, Sensorineural hearing impairment, Elevated circulating thyroid-stimulating hormo... |
OMIM:601812 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Cerebellar vermis hypoplasia, Corneal opacity, Optic nerve hypoplasia, Corneal dystrophy, Microce... |
ORPHA:495875 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Retinal dysplasia, Cerebellar hypoplasia, Type II lissencephaly |
OMIM:614830 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, Anteverted ears, Microcornea, Hypothyroidism, Iris coloboma, Dandy-Walker malformat... |
OMIM:300166 |
Farber Disease |
|
Corneal opacity, Thrombocytopenia, Osteoporosis, Hepatosplenomegaly, Macular degeneration, Abnorm... |
ORPHA:333 |
Mucopolysaccharidosis, Type Ivb |
|
Corneal opacity, Osteoporosis, Mitral regurgitation, Opacification of the corneal stroma, Aortic ... |
OMIM:253010 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Osteopenia, Hypopituitarism, Increased T cell count, Increased B cell count |
ORPHA:98813 |
8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Retinal dystrophy, Microcep... |
ORPHA:251066 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Diffuse cerebral atrophy, Head titubation, Vestibular arefle... |
ORPHA:3240 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Cerebellar vermis hypoplasia, Cataract, EEG with focal spike waves, Retinal dystrophy, Buphthalmo... |
ORPHA:370997 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Cataract, Protruding ear, Astigmatism, Retinal coloboma, Low-set ears, Microphthalmia, Inferior c... |
OMIM:618571 |
Kniest Dysplasia |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Cataract, Rhegmatogenous retinal detachment, ... |
ORPHA:485 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinopathy, Retinal pigment epithelial mottling, Rickets, Corneal crystals |
OMIM:219900 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Cu... |
OMIM:110100 |
X-Linked Intellectual Disability, Seemanova Type |
|
Microcephaly, Cryptorchidism, Developmental cataract, Hypogonadism, Macrotia |
ORPHA:85323 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Cataract, Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy... |
ORPHA:1345 |
Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Cataract, Dilated cardiomyopathy, Ventricular ta... |
OMIM:615184 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Cataract, Tremor, Hematochezia, Pigmentary retinopathy, Hypogonadism, Type II diabetes mellitus |
ORPHA:79095 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Corneal opacity, Microcephaly, Asplenia, Cryptorchidism, Biparietal narrowin... |
ORPHA:99776 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Decreased motor nerve conduction velocity, Cataract, Sensorineural hearing impairment, Hand tremo... |
OMIM:162400 |
Gracile Bone Dysplasia |
|
Asplenia, Micropenis, Aniridia, Microphthalmia, Hypoplastic spleen, Decreased skull ossification |
OMIM:602361 |
Martsolf Syndrome 1 |
|
Cataract, Hypogonadotropic hypogonadism, Posteriorly rotated ears, Cardiac arrest, Microcephaly, ... |
OMIM:212720 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased proportion of memory T cells, Increased B cell count, Hepatosplenomegaly |
OMIM:618982 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Cataract, Decreased response to growth hormone stimulation test, Sensorineural hearing impairment... |
ORPHA:436174 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti... |
ORPHA:263479 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Iris atrophy, Cataract, Microcephaly, Phthisis bulbi, Osteoporosis, Retinal calcifica... |
OMIM:259770 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Retinal detachment, Cerebral calcification, Corneal dystrophy, Pulmo... |
ORPHA:3205 |
Bardet-Biedl Syndrome 22 |
|
Microcephaly, Macular hypopigmentation, Hypogonadism, Macrocephaly, Rod-cone dystrophy |
OMIM:617119 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Cataract, Optic nerve hypoplasia, Microcephaly, Epiphyseal stippling, Zonular cataract |
OMIM:222765 |
Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Mixed hearing impairment,... |
ORPHA:309282 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cataract, Cochlear degeneration |
ORPHA:3233 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Retinal atrophy, Microcephaly, Retinal degeneration, Optic atrophy, Aplasia/Hypoplasia ... |
OMIM:253280 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia |
|
Cataract, Microcephaly, Simplified gyral pattern, Cerebral atrophy, Low-set ears, Dystonia, Thin ... |
OMIM:619286 |
3Mc Syndrome 3 |
|
Bifid scrotum, Corneal opacity, Abnormal pinna morphology, Cryptorchidism, Auricular pit, Micrope... |
OMIM:248340 |
Trichothiodystrophy 1, Photosensitive |
|
Cataract, Microcephaly, Protruding ear, Microcornea, Telangiectasia, Keratoconjunctivitis sicca, ... |
OMIM:601675 |
Schimke Immuno-Osseous Dysplasia |
|
Corneal opacity, Abnormality of thyroid physiology, Transient ischemic attack, Thrombocytopenia, ... |
ORPHA:1830 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Cerebral calcification, Adrenal hyperplasia, Cataract, Primary adrenal insuff... |
ORPHA:3453 |
Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Microcephaly, Hypothyroidism, Lens coloboma, Reti... |
ORPHA:42775 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Small for gestational age, Failure to thrive in infancy, Increased circulating IgE level, Increas... |
OMIM:617241 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, Cataract, Anophthalmia, External genital hypoplasia, Cryptorchidism, Hypopla... |
ORPHA:2250 |
Galactosialidosis |
|
Conjunctival telangiectasia, Hepatosplenomegaly, Opacification of the corneal stroma, Cherry red ... |
OMIM:256540 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Optic disc pallor, Posteriorly rotated ears, Microcephaly, Pulmonary arterial hypertension, Hypop... |
OMIM:300887 |
Nance-Horan Syndrome |
|
Developmental cataract, Microcornea, Posterior Y-sutural cataract, Microphthalmia, Macrotia |
OMIM:302350 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopen... |
OMIM:603909 |
Ovarian Fibrothecoma |
|
Ovarian fibroma, Metrorrhagia, Abnormal circulating hormone concentration, Abnormal endometrium m... |
ORPHA:314478 |
Infantile Refsum Disease |
|
Cataract, Facial palsy, Sensorineural hearing impairment, Optic atrophy, Cardiomyopathy, Arrhythm... |
ORPHA:772 |
Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
Lcat Deficiency |
|
Hemolytic anemia, Corneal opacity |
ORPHA:650 |
Fanconi Anemia, Complementation Group L |
|
Chromosome breakage, Bone marrow hypocellularity, Aplasia of the uterus, Micropenis, Chromosomal ... |
OMIM:614083 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Cataract, Rod-cone dystrophy, Optic atrophy, Pigmentary ... |
OMIM:609033 |
Carpenter Syndrome 1 |
|
Abnormal pinna morphology, External genital hypoplasia, Sagittal craniosynostosis, Precocious pub... |
OMIM:201000 |
Vici Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Hypoplasia of the pons, Sensorineural hearing impa... |
ORPHA:1493 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Cataract, Abnormality of neutrophils, Hearing impairment, Ocular albinism, Reduced bone mineral d... |
ORPHA:2720 |
Mucolipidosis Iii Alpha/Beta |
|
Aortic regurgitation, Hyperopic astigmatism, Craniosynostosis, Opacification of the corneal strom... |
OMIM:252600 |
Phace Association |
|
Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Developmental cataract, Congenital hypoth... |
OMIM:606519 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... |
OMIM:617091 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Craniofacial hyperostosis, Decreased testicular size, Cataract, Tela... |
ORPHA:910 |
Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
Focal Dermal Hypoplasia |
|
Corneal opacity, Telangiectasia of the skin, Hearing impairment, Ectopia lentis, Hypoplasia of th... |
ORPHA:2092 |
Usher Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Sensorineural hearing impairment, Vestibular arefl... |
ORPHA:886 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Cataract, Angina pectoris, Myocardial infarction, Osteoporosis, Cerebral atrop... |
OMIM:213700 |
Papillorenal Syndrome |
|
Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpigmentation, Se... |
OMIM:120330 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Joubert Syndrome 9 |
|
Cataract, Retinal dystrophy, Astigmatism |
OMIM:612285 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia, Abnormal external genitalia, Microcephaly |
ORPHA:3469 |
Galloway-Mowat Syndrome 1 |
|
Cataract, Dystonia, Microcephaly, Macrotia, Optic atrophy, Cerebral atrophy, Hypoplasia of the ir... |
OMIM:251300 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Impaired T cell function, Hypogonadism, Decreased serum testosterone concentration, Failure to th... |
OMIM:201100 |
Gomez-Lopez-Hernandez Syndrome |
|
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Posteriorly rotated ears, Craniosyno... |
OMIM:601853 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Diabetes mellitus, Sensorineural hearing impairment, Optic a... |
ORPHA:1215 |
Pemphigus Erythematosus |
|
Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, Autoimmunity, S... |
ORPHA:79480 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
Mucopolysaccharidosis Type 7 |
|
Splenomegaly, Epiphyseal stippling, Corneal opacity |
ORPHA:584 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Posteriorly rotated ears, Sensorineural hearing impairment, Macrocephaly, Telangiectasia, Pigment... |
OMIM:612582 |
Microphthalmia, Syndromic 6 |
|
Small scrotum, Anophthalmia, Sclerocornea, Uplifted earlobe, Adrenal hypoplasia, Protruding ear, ... |
OMIM:607932 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... |
ORPHA:2975 |
Neu-Laxova Syndrome |
|
Osteopenia, Cerebral calcification, External genital hypoplasia, Opisthotonus, Pterygium, Pachygy... |
ORPHA:2671 |
Pellagra-Like Syndrome |
|
Cataract |
OMIM:260650 |
Frontorhiny |
|
Low-set, posteriorly rotated ears, Pericallosal lipoma, Cataract, Diabetes insipidus, Aplasia/Hyp... |
ORPHA:391474 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Peripheral opacification of the cornea, Corneal opacity, Osteoporosis, Osteolysis inv... |
OMIM:259600 |
Idiopathic Panuveitis |
|
Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Vi... |
ORPHA:280921 |
Fryns Syndrome |
|
Low-set, posteriorly rotated ears, Hypospadias, Corneal opacity, Aganglionic megacolon, Cryptorch... |
ORPHA:2059 |
Donnai-Barrow Syndrome |
|
Retinal detachment, Cataract, Posteriorly rotated ears, Retinal dystrophy, Partial agenesis of th... |
OMIM:222448 |
Cockayne Syndrome Type 3 |
|
Cerebral white matter atrophy, Basal ganglia calcification, Microcornea, Lentiglobus, Adult onset... |
ORPHA:90324 |
Baraitser-Winter Syndrome 2 |
|
Abnormal pinna morphology, Coloboma, Secondary microcephaly, Lissencephaly, Microphthalmia, Pachy... |
OMIM:614583 |
Mucopolysaccharidosis Type 3 |
|
Craniofacial hyperostosis, Mixed hearing impairment, Cataract, Corneal opacity, Thickened helices... |
ORPHA:581 |
Fanconi Anemia, Complementation Group V |
|
Microcephaly, Thrombocytopenia, Chromosomal breakage induced by crosslinking agents, Bone marrow ... |
OMIM:617243 |
Cataract 48 |
|
Cataract |
OMIM:618415 |
Neurotrophic Keratopathy |
|
Diabetes mellitus, Abnormal fifth cranial nerve morphology, Corneal scarring, Corneal stromal ede... |
ORPHA:137596 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Pancytopenia, Transient ischemic attack, Bilateral cryptorchidism, Thrombocytopenia, ... |
OMIM:242900 |
Costello Syndrome |
|
Keratoconus, Low-set, posteriorly rotated ears, Cryptorchidism, Large earlobe, Pulmonic stenosis,... |
ORPHA:3071 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Cataract, Brushfield spots, Cryptorchidism, Optic nerve dysplasia, Pigmentary retinopathy, Hypopl... |
OMIM:214110 |
Jacobsen Syndrome |
|
Hypospadias, Microcephaly, Cryptorchidism, Optic atrophy, Microcornea, Clitoral hypoplasia, Macul... |
OMIM:147791 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cataract, Microcephaly, Peters anomaly, Partial absence of cerebellar vermis, Buphthalmos, Hypopl... |
OMIM:613150 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Atresia of the external auditory canal, Opacification of the corneal stroma, Macrocephaly |
OMIM:601356 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Optic disc pallor, Cataract, Hypospadias, Posteriorly rotated ears, Adrenal hypoplasia, Brushfiel... |
OMIM:214100 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Death in childhood |
OMIM:607624 |
X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Megalencephaly, Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy,... |
ORPHA:3063 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Pachygyria, Agenesis of corpus callosum, Tricuspid regurgitation, Hypospadias, Brushfield spots, ... |
OMIM:614866 |
Werner Syndrome |
|
Abnormality of retinal pigmentation, Increased bone mineral density, Cataract, Telangiectasia of ... |
ORPHA:902 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Cataract, Macrocephaly |
OMIM:619338 |
Cowden Syndrome 6 |
|
Cataract, Hyperthyroidism, Goiter, Progressive macrocephaly, Thyroiditis, Angioid streaks of the ... |
OMIM:615109 |
Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, External genital hypoplasia, Dilated cardiomyopathy, Hypogonadism, Rod-cone dy... |
OMIM:615981 |
Cartilage-Hair Hypoplasia |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Abnormally ossified verte... |
ORPHA:175 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Cataract, Female hypogonadism, Premature ovarian insufficiency, Decreased cir... |
OMIM:240300 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea |
ORPHA:2795 |
Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... |
ORPHA:96125 |
Cockayne Syndrome |
|
Cerebral calcification, Basal ganglia calcification, Lentiglobus, Retinal arteriolar constriction... |
ORPHA:191 |
Joubert Syndrome 22 |
|
Agenesis of cerebellar vermis, Temporal cortical atrophy, Coloboma, Retinal dysplasia, Hypoplasia... |
OMIM:615665 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Cataract, Microcephaly, Tremor, Cryptorchidism, Hypsarrhythmia |
OMIM:608093 |
Woolly Hair |
|
Abnormal pupil morphology, Cataract, Abnormal retinal morphology |
ORPHA:170 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Bifid scrotum, Pancytopenia, Cataract, Hypoplasia of penis, Telangiectasia of the skin, Microceph... |
ORPHA:85321 |
Cowden Syndrome 5 |
|
Cataract, Hyperthyroidism, Goiter, Progressive macrocephaly, Thyroiditis, Angioid streaks of the ... |
OMIM:615108 |
Refsum Disease, Classic |
|
Cataract, Congestive heart failure, Sensorineural hearing impairment, Cardiomyopathy, Arrhythmia,... |
OMIM:266500 |
Cowden Syndrome 1 |
|
Cataract, Hyperthyroidism, Goiter, Progressive macrocephaly, Thyroiditis, Hemimegalencephaly, Ang... |
OMIM:158350 |
Alagille Syndrome |
|
Keratoconus, Telangiectasia of the skin, Corneal dystrophy, Cryptorchidism, Abnormal pupil morpho... |
ORPHA:52 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Meningioma |
|
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Ne... |
ORPHA:2495 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
Gorlin-Chaudhry-Moss Syndrome |
|
Conductive hearing impairment, Coronal craniosynostosis, Astigmatism, Sclerocornea |
ORPHA:2095 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Streak ovary, Premature ovarian insufficiency, Decrea... |
ORPHA:3464 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Agenesis of cerebellar vermis, Small scrotum, Cryptorchidism, Hypogonadism, Low-set ears, Microph... |
ORPHA:228390 |
Hjv Or Hamp-Related Hemochromatosis |
|
Diabetes mellitus, Dilated cardiomyopathy, Osteoporosis, Abnormality of endocrine pancreas physio... |
ORPHA:79230 |
Sjogren Syndrome |
|
Autoimmunity, Rheumatoid arthritis |
OMIM:270150 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Thyroid C cell hyperplasia, Sclerocornea, Dilated cardiomyopathy, Ventricular tac... |
OMIM:300952 |
Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Increased bone mineral density, Cataract, Autoimmune hypoparathyroidism, A... |
ORPHA:36913 |
Mucopolysaccharidosis Type 1 |
|
Corneal opacity, Splenomegaly, Sensorineural hearing impairment, Congestive heart failure, Optic ... |
ORPHA:579 |
Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, Re... |
ORPHA:364055 |
Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h... |
ORPHA:637 |
Gaucher Disease |
|
Osteopenia, Increased bone mineral density, Pancytopenia, Corneal opacity, Tremor, Thrombocytopen... |
ORPHA:355 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Optic disc pallor, Retinal detachment, Corneal opacity, Hypospadias, Microc... |
ORPHA:464311 |
Muscle-Eye-Brain Disease |
|
Aplasia/Hypoplasia of the cerebellum, EEG abnormality, Cataract, Optic atrophy |
ORPHA:588 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteopenia, Hypogonadism, Osteoporosis, Delayed puberty |
OMIM:615270 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Posteriorly rotated ears, Microcephaly, Microcornea, Hypoplasia of the corpus callosum, Low-set e... |
OMIM:156610 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Cataract, Tremor, Cryptorchidism, Cerebellar hypoplasia, Inferior c... |
OMIM:620327 |
Peroxisome Biogenesis Disorder 9B |
|
Rod-cone dystrophy, Sensorineural hearing impairment, Cataract, Cardiomyopathy |
OMIM:614879 |
Gorlin Syndrome |
|
Cerebral calcification, Hypogonadotropic hypogonadism, Cataract, Cryptorchidism, Iris coloboma |
ORPHA:377 |
Hurler-Scheie Syndrome |
|
Aortic regurgitation, Corneal opacity, Splenomegaly, Mitral regurgitation, Pulmonary arterial hyp... |
OMIM:607015 |
Weill-Marchesani Syndrome |
|
Cataract, Ectopia lentis, Mitral regurgitation, Pulmonic stenosis, Aortic valve stenosis |
ORPHA:3449 |
Reticular Dysgenesis |
|
Hypoplasia of the thymus, Impaired T cell function, Lack of T cell function |
OMIM:267500 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Optic atrophy, Ectopia pupillae, Astigmatism, Microphthalmia |
OMIM:618727 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Macular degeneration, Cataract, Thin corpus callosum, Diffuse leukoencephalopathy |
OMIM:619780 |
Olmsted Syndrome 1 |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:614594 |
Rothmund-Thomson Syndrome, Type 2 |
|
Cataract, Underfolded helix, Cryptorchidism, Osteoporosis, Telangiectasia, Microcornea, Prominent... |
OMIM:268400 |
Müllerian Aplasia And Hyperandrogenism |
|
Obesity, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnorm... |
ORPHA:247768 |
Proboscis Lateralis |
|
Cataract, Corneal opacity, Optic nerve hypoplasia, External genital hypoplasia, Anophthalmia, Opt... |
ORPHA:141099 |
Bosma Arhinia Microphthalmia Syndrome |
|
Cataract, Hypogonadotropic hypogonadism, Hypospadias, Absent tragus, Abnormal pinna morphology, C... |
OMIM:603457 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Corneal opacity |
OMIM:602400 |
Mosaic Trisomy 8 |
|
Corneal opacity, Abnormal pinna morphology, Cryptorchidism, Protruding ear, Abnormal antihelix mo... |
ORPHA:96061 |
Jaberi-Elahi Syndrome |
|
Cataract, Dystonia, Microcephaly, Tremor, Globus pallidus hypointensity on susceptibility-weighte... |
OMIM:617988 |
Bardet-Biedl Syndrome 1 |
|
Decreased testicular size, Attenuation of retinal blood vessels, Bone spicule pigmentation of the... |
OMIM:209900 |
3Q29 Microdeletion Syndrome |
|
Cataract, Hypospadias, Microcephaly, Pulmonary arterial hypertension, Low-set ears, Macrocephaly,... |
ORPHA:65286 |
Aniridia-Absent Patella Syndrome |
|
Aniridia, Cryptorchidism, Cataract |
ORPHA:1069 |
Aniridia 3 |
|
Aniridia, Cataract |
OMIM:617142 |
Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:273 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Megalencephaly, Progressive macrocephaly, Large earlobe, Microphthalmia, Cavum septum pellucidum,... |
OMIM:602501 |
Mucopolysaccharidosis Type 2 |
|
Papilledema, Otosclerosis, Abnormality of retinal pigmentation, Corneal opacity, Decreased nerve ... |
ORPHA:580 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Keratoconus, Sensorineural hearing impairment, Conjunctivitis, Cerebral atrophy |
OMIM:242150 |
Galactosemia I |
|
Hemolytic anemia, Cataract, Hypergonadotropic hypogonadism, Premature ovarian insufficiency |
OMIM:230400 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Cataract, Abnormal pinna morphology, Epiphyseal stippling, Stippled calcification in carpal bones... |
OMIM:302960 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Uterine leiomyosarcoma, Uterine leiomyoma, Cataract, Vaginal neoplasm |
ORPHA:523 |
Hallermann-Streiff Syndrome |
|
Cataract, Microcephaly, Cryptorchidism, Optic disc coloboma, Telangiectasia, Choreoathetosis, Hyp... |
OMIM:234100 |
Acro-Renal-Ocular Syndrome |
|
Cataract, Optic disc hypoplasia, Aganglionic megacolon, Radial club hand, Sensorineural hearing i... |
ORPHA:959 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Hypospadias, Cryptorchidism, Microcornea, Opacification of the corneal stroma, Anterior chamber s... |
OMIM:601499 |
Mend Syndrome |
|
Cataract, Abnormal auditory evoked potentials, Cryptorchidism, Hypoplasia of the corpus callosum,... |
ORPHA:401973 |
Radial-Renal Syndrome |
|
Chromosome breakage |
OMIM:179280 |
Fucosidosis |
|
Hypothyroidism, Corneal opacity, Hearing impairment |
ORPHA:349 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Microcephaly, Brushfi... |
OMIM:619539 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Low-set, posteriorly rotated ears, Agenesis of pineal gland, Corneal opacity, Optic n... |
ORPHA:536471 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Cataract, Portal hypertension, Porencephalic cyst, Leukopenia, EEG a... |
ORPHA:974 |
Wilson Disease |
|
Abnormality of the menstrual cycle, Splenomegaly, Anemia, Kayser-Fleischer ring, Thrombocytopenia |
ORPHA:905 |
Classic Phenylketonuria |
|
Cataract, Cerebral calcification, Tremor, Microcephaly |
ORPHA:79254 |
Trisomy 18 |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Cataract, Microcephaly, C... |
ORPHA:3380 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Retinal detachment, Cataract, Eosinophilia, Microcephaly, Keratitis, Ret... |
OMIM:308300 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, EEG abnormality, Lissencephaly,... |
OMIM:614833 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Anemia |
ORPHA:100024 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology, Optic atroph... |
ORPHA:2715 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy |
OMIM:300322 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Abnormal trabecular bone morphology, Premature ovarian insufficiency, Aplastic anemia... |
ORPHA:221008 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Optic disc pallor, Corneal opacity, Hypospadias, Anterior pituitary hypopla... |
ORPHA:464306 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... |
ORPHA:572333 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Retinal atrophy, Postural tremor, Hypoplasia of the pons, Corpus callosum atrophy, Hypothyroidism... |
ORPHA:412057 |
Cohen Syndrome |
|
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Microcephaly, Cryptorchidism, Senso... |
ORPHA:193 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Cryptorchidism, Bicornuate uterus, Microphthalmia |
OMIM:615524 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Band keratopathy, Cerebral calcification, Cataract |
OMIM:604278 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm |
OMIM:614874 |
Vogt-Koyanagi-Harada Disease |
|
Retinal detachment, Sensorineural hearing impairment, Cataract |
ORPHA:3437 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Cataract, Microcephaly, Corpus callosum atrophy, Tremor, Cerebral cortical atrophy |
OMIM:616586 |
Dyschondrosteosis-Nephritis Syndrome |
|
Corneal opacity |
ORPHA:1765 |
Pelvis-Shoulder Dysplasia |
|
Ambiguous genitalia, Abnormal pinna morphology, Bilateral microphthalmos, Microcornea, Microtia, ... |
ORPHA:2839 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Corneal opacity, Microcephaly, Microphthalmia, Small earlobe, Hearing impairment |
ORPHA:364577 |
Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Cryptorchidism, Hypoplasia of the corpus callosum, Microphthalmia, Agenesis of corp... |
OMIM:164180 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
Icf Syndrome |
|
Abnormality of chromosome stability, Abnormality of neutrophils, Low-set ears, Macrocephaly, Lymp... |
ORPHA:2268 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Opacification of the corneal stroma |
OMIM:164900 |
Enhanced S-Cone Syndrome |
|
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis |
OMIM:268100 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Aplasia/Hypoplasia of the cerebellum, Abnormal auditory evoked potential... |
ORPHA:99027 |
Rabin-Pappas Syndrome |
|
Retinal detachment, Cataract, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Retin... |
OMIM:620155 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Cerebral calcification, Cataract, Facial palsy, Posteriorly rotat... |
ORPHA:2780 |
Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Precocious puberty, Cryptorchidis... |
ORPHA:636 |
Meckel Syndrome, Type 8 |
|
Anophthalmia, Microcephaly, Low-set ears, Ambiguous genitalia, Microphthalmia |
OMIM:613885 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Myotonic Dystrophy 2 |
|
Tachycardia, Posterior subcapsular cataract, Iridescent posterior subcapsular cataract, Oligozoos... |
OMIM:602668 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmunity |
ORPHA:231154 |
Mucolipidosis Iii Gamma |
|
Aortic regurgitation, Aortic valve stenosis, Opacification of the corneal stroma |
OMIM:252605 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, ... |
OMIM:300845 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy, Seco... |
OMIM:616881 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Hypoplasia of... |
OMIM:617914 |
Full Schwannomatosis |
|
Cataract, Neoplasm of the anterior pituitary, Bilateral vestibular schwannoma, Uterine leiomyoma,... |
ORPHA:93921 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Cupped ear, Lens coloboma, Pulmonic stenosis, Hypoplasia of the corpus callosum, Microphthalmia |
OMIM:618914 |
Roifman Syndrome |
|
Decreased T cell activation, Hypogonadotropic hypogonadism, Decreased circulating antibody level |
ORPHA:353298 |
Dystonia-Deafness Syndrome 1 |
|
Cataract, Generalized dystonia, Oculogyric crisis, Sensorineural hearing impairment, Leg dystonia |
OMIM:607371 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Microcephaly, Bilateral microphthalmos, Unilateral microphthalmos, Coloboma, Vaginal fistula, Sim... |
OMIM:619318 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... |
OMIM:613270 |
Hereditary Mucoepithelial Dysplasia |
|
Abnormal morphology of female internal genitalia, Cataract, Corneal dystrophy |
ORPHA:1839 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Bone spicule pigmentation of the retina, Cataract, Truncal titubation, Pigmentary retinopathy, Ab... |
ORPHA:88628 |
Chime Syndrome |
|
Corneal opacity, Osteolysis, Acute leukemia, Retinal coloboma, Cerebral cortical atrophy, Hearing... |
ORPHA:3474 |
Autosomal Recessive Primary Microcephaly |
|
Microcephaly, Gray matter heterotopia, Hypoplasia of the frontal lobes, Pachygyria, Agenesis of c... |
ORPHA:2512 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Patchy osteoscle... |
OMIM:241410 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Linear Nevus Sebaceus Syndrome |
|
Cerebral calcification, Porencephalic cyst, Aplasia/Hypoplasia of the corpus callosum, EEG abnorm... |
ORPHA:2612 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Absent outer dynein arms |
OMIM:612444 |
Myoclonic-Astatic Epilepsy |
|
EEG with polyspike wave complexes, EEG with focal spike waves, Microcephaly, Tremor, EEG with irr... |
ORPHA:1942 |
Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Polyc... |
OMIM:600501 |
Oculodentodigital Dysplasia |
|
Cataract, Abnormal pinna morphology, Microcephaly, Basal ganglia calcification, Microcornea, Abno... |
OMIM:164200 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Cerebral dysmyelination,... |
OMIM:609136 |
Nail-Patella Syndrome |
|
Keratoconus, Cataract, Sensorineural hearing impairment, Antecubital pterygium, Microcornea, Micr... |
OMIM:161200 |
Ritscher-Schinzel Syndrome 3 |
|
Relative macrocephaly, Cerebellar vermis hypoplasia, Cryptorchidism, Poorly ossified vertebrae, E... |
OMIM:619135 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Corneal erosion, Cataract, Decreased proportion of class-switched memory B cells |
OMIM:614878 |
Prolactinoma |
|
Osteopenia, Male hypogonadism, Hypogonadotropic hypogonadism, Osteoporosis, Decreased fertility i... |
ORPHA:2965 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia, Ectopia pupillae |
OMIM:156900 |
Phacoanaphylactic Uveitis |
|
Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, Vitritis, Abnormal... |
ORPHA:209959 |
Lathosterolosis |
|
Hypoplasia of penis, Cataract, Cerebral calcification, Microcephaly, Anisopoikilocytosis, Abnorma... |
ORPHA:46059 |
Fanconi Anemia, Complementation Group Q |
|
Chromosome breakage, Bone marrow hypocellularity, Low-set ears, Microcephaly |
OMIM:615272 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Hypospadias, Microcephaly, Unilateral microphthalmos, Macrocephaly, Macroorchidism, Polymicrogyri... |
OMIM:618874 |
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Keratoconus, Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin |
OMIM:609438 |
H Syndrome |
|
Diabetes mellitus, Hearing impairment, Microcytic anemia, Abnormal cardiovascular system physiolo... |
ORPHA:168569 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Severe B lymphocytopenia, Cataract, Craniosynostosis, Microcephaly, Portal hype... |
OMIM:620005 |
Camurati-Engelmann Disease, Type 2 |
|
Osteopenia, Hyperostosis, Mitral regurgitation, Hypogonadism, Delayed puberty |
OMIM:606631 |
Hurler Syndrome |
|
Corneal opacity, Angina pectoris, Splenomegaly, Cardiomyopathy, Hypertension, Abnormal nerve cond... |
ORPHA:93473 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... |
OMIM:613807 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Cupped ear, Coloboma, Low-set ears, Microphthalmia, Conjunctival hyperemia |
OMIM:167730 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Hartsfield Syndrome |
|
Low-set, posteriorly rotated ears, Microphthalmia, Craniosynostosis, Aplasia/Hypoplasia of the co... |
ORPHA:2117 |
Congenital Disorder Of Deglycosylation 1 |
|
Decreased sensory nerve conduction velocity, Corneal opacity, Microcephaly, Osteoporosis, Athetos... |
OMIM:615273 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Hypointensity of cerebr... |
ORPHA:206436 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Optic disc pallor, Abnormal pinna morphology, Band keratopathy, Hypoplasia of the iris, Anterior ... |
OMIM:614195 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Telangiectasia of the skin, Thin bony cortex |
ORPHA:75508 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Postural hypotension with compensatory tachycardia, Keratitis, Corneal scarring, Abnormal autonom... |
OMIM:256800 |
Senior-Loken Syndrome 9 |
|
Osteopenia, Retinal dystrophy, Macular degeneration, Hypogonadism, Rod-cone dystrophy |
OMIM:616629 |
19Q13.11 Microdeletion Syndrome |
|
Bifid scrotum, Cataract, Hypospadias, Microcephaly, Cryptorchidism, Microcornea, Hearing impairment |
ORPHA:217346 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Osteopenia, Cataract, Posteriorly rotated ears, Cryptorchidism, Developmental glaucoma, Prominent... |
OMIM:614438 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Keratoconus, Retinal detachment, Gastrointestinal hemorrhage, Congestive heart failur... |
OMIM:225400 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Small scrotum, External genital hypoplasia, Clitoral hypoplasia, Chorioretinal hypopi... |
ORPHA:398079 |
Generalized Eruptive Keratoacanthoma |
|
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis |
ORPHA:411777 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Cryptorchidism, Bilateral microphthalmos, Multifocal epileptiform discharges, EEG abnormality, Lo... |
ORPHA:369891 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Microtia, third degree, Cryptorchidism, Microcornea, Anotia, Abnormal optic nerve m... |
ORPHA:3412 |
1Q21.1 Microdeletion Syndrome |
|
Cataract, Microcephaly, Cryptorchidism, Sensorineural hearing impairment, Microphthalmia, Agenesi... |
ORPHA:250989 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
Aicardi Syndrome |
|
Retinal detachment, Cerebellar vermis hypoplasia, Cataract, Microcephaly, Precocious puberty, Cho... |
OMIM:304050 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Optic disc pallor, Cataract, Agenesis of cerebellar vermis, Poster... |
OMIM:610377 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
3-Methylglutaconic Aciduria Type 7 |
|
Cataract, Neutropenia, Abnormal basal ganglia morphology, Cerebral atrophy, Opisthotonus, Choreoa... |
ORPHA:445038 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Microcephaly, Cerebral atrophy, Developmental cataract, Microcornea, Pulmonary arter... |
ORPHA:464738 |
Moebius Syndrome |
|
Corneal opacity, Facial palsy, Hypogonadotropic hypogonadism, Hearing impairment |
ORPHA:570 |
Treacher-Collins Syndrome |
|
Thyroid hypoplasia, Hypoplasia of penis, Cataract, Small scrotum, Cryptorchidism, Blepharospasm, ... |
ORPHA:861 |
Cadds |
|
Cataract, Adrenal hypoplasia, Sensorineural hearing impairment, Abnormal cerebral white matter mo... |
ORPHA:369942 |
Arterial Tortuosity Syndrome |
|
Keratoconus, Telangiectasia of the skin, Cardiac arrest, Craniosynostosis, Myocardial infarction,... |
ORPHA:3342 |
Primary Ciliary Dyskinesia |
|
Male infertility, Abnormal sperm motility, Female infertility |
ORPHA:244 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia, Coloboma |
OMIM:600251 |
Braddock-Carey Syndrome 2 |
|
Microcephaly, Atresia of the external auditory canal, Microphthalmia, Thrombocytopenia, Hearing i... |
OMIM:619981 |
Pseudohypoparathyroidism Type 1A |
|
Cerebral calcification, Decreased response to growth hormone stimulation test, Reduced circulatin... |
ORPHA:79443 |
Lathosterolosis |
|
Cataract, Increased mean platelet volume, Microcephaly, Acanthocytosis, Schistocytosis, Osteoporo... |
OMIM:607330 |
Seckel Syndrome 2 |
|
Hypospadias, Microcephaly, Heart murmur, Cerebellar hypoplasia, Microphthalmia |
OMIM:606744 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Abnormal auditory evoked potentials, Conjunctival icterus, Sensorineural hearin... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Abnormal auditory evoked potentials, Conjunctival icterus, Sensorineural hearin... |
ORPHA:529799 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Cerebral white matter atrophy, Abnormal cortical gyration, Microcephaly, Megaloblastic anemia, De... |
ORPHA:79351 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Cataract, Chorioretinal dy... |
ORPHA:2526 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Telangiectasia of the skin, Red... |
ORPHA:2909 |
Familial Isolated Hypoparathyroidism |
|
Hypoparathyroidism, Cerebral calcification, Cataract, Abnormal circulating calcium-phosphate regu... |
ORPHA:2238 |
Harrod Syndrome |
|
Cataract, Hypospadias, Microcephaly, Cryptorchidism, Protruding ear, Cerebral cortical atrophy |
ORPHA:2115 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microcephaly, Cupped ear, Ocular albinism, Microtia, Microphthalmia |
ORPHA:1352 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia |
OMIM:615297 |
Mosaic Trisomy 1 |
|
Cerebellar vermis hypoplasia, Abnormal pinna morphology, Cerebellar hypoplasia, Opacification of ... |
ORPHA:1692 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Tangier Disease |
|
Splenomegaly, Facial diplegia, Myocardial infarction, Opacification of the corneal stroma |
OMIM:205400 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating parathyroi... |
OMIM:600785 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Marginal corneal dystrophy, Chorioretinal atrophy, Retinal degeneration, Corneal crystals |
OMIM:210370 |
Sympathetic Ophthalmia |
|
Papilledema, Retinal detachment, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul... |
ORPHA:79098 |
Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor |
OMIM:619649 |
Fanconi Anemia, Complementation Group U |
|
Chromosome breakage, Patent ductus arteriosus |
OMIM:617247 |
Eiken Syndrome |
|
Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Thin bony cortex, Abnormal ... |
ORPHA:79106 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Dubowitz Syndrome |
|
Aplastic anemia, Hypospadias, Microcephaly, Cryptorchidism, Protruding ear, Hypoplasia of the iri... |
OMIM:223370 |
Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
Alport Syndrome 2, Autosomal Recessive |
|
Cataract, Corneal erosion, Hypertension, Anterior lenticonus, Hearing impairment |
OMIM:203780 |
Cousin Syndrome |
|
Posteriorly rotated ears, Ambiguous genitalia, female, Microcornea, Ambiguous genitalia, male, Lo... |
OMIM:260660 |
Gapo Syndrome |
|
Keratoconus, Facial palsy, Retinal arteriolar tortuosity, Optic atrophy, Protruding ear, EEG abno... |
OMIM:230740 |
Autoimmune Lymphoproliferative Syndrome |
|
Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD... |
ORPHA:3261 |
Monosomy 18P |
|
Generalized dystonia, Microcephaly, Protruding ear, Abnormal antihelix morphology, Hypertension, ... |
ORPHA:1598 |
Usher Syndrome Type 2 |
|
Cataract, Sensorineural hearing impairment, Subcortical cerebral atrophy, Aplasia/Hypoplasia of t... |
ORPHA:231178 |
Curry-Jones Syndrome |
|
Unicoronal synostosis, Megalencephaly, Hemimegalencephaly, Microphthalmia, Polymicrogyria, Agenes... |
OMIM:601707 |
Monosomy 13Q14 |
|
Cataract, Microcephaly, Retinoblastoma, Protruding ear, Hypoplasia of the corpus callosum, Low-se... |
ORPHA:1587 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypoparathyroidism, Cerebral calcification, Decreased circulating parathyroid hormone level, Cata... |
OMIM:146200 |
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 |
Oculocerebrorenal Syndrome Of Lowe |
|
Low-set, posteriorly rotated ears, Hyperparathyroidism, Cataract, Corneal opacity, Osteomalacia, ... |
ORPHA:534 |
Microphthalmia, Isolated 8 |
|
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob... |
OMIM:615113 |
Charge Syndrome |
|
Bifid scrotum, Anophthalmia, Hypoplasia of the semicircular canal, Abnormality of bone mineral de... |
ORPHA:138 |
Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Reduced bone mineral density, Intracranial hemorrhage, Conductive hearing ... |
ORPHA:740 |
Ovarian Fibroma |
|
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary |
ORPHA:314473 |
Mucopolysaccharidosis, Type Vii |
|
Corneal opacity, Splenomegaly, Sensorineural hearing impairment, Cardiomyopathy, Macrocephaly, He... |
OMIM:253220 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
Basal Cell Nevus Syndrome 1 |
|
Cataract, Ovarian fibroma, Irregular ossification of hand bones, Ovarian carcinoma, Calcification... |
OMIM:109400 |
Vici Syndrome |
|
Schizencephaly, Cerebellar vermis hypoplasia, Leukopenia, T lymphocytopenia, Abnormal thymus morp... |
OMIM:242840 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Agenesis of cerebellar vermis, Absent septum pellucidum, Type II lissencephaly, Cortical dysplasi... |
OMIM:615287 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Cataract, Decreased distal sensory nerve action potential, Tremor, Developmental glaucoma, Sensor... |
ORPHA:99956 |
Holoprosencephaly |
|
Hypoplasia of penis, Anophthalmia, Abnormality of the spleen, Panhypopituitarism, Chorioretinal c... |
ORPHA:2162 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Cataract, Microcornea, Large earlobe, Low-set ears, Persistent pupillary membrane, Microphthalmia |
OMIM:257850 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia, Hypogonadotropic hypogonadism |
ORPHA:1135 |
Monosomy 9Q22.3 |
|
Cataract, Ovarian fibroma, Calcification of falx cerebri, Macrocephaly, Low-set ears, Microphthal... |
ORPHA:77301 |
Congenital Fibrosis Of Extraocular Muscles |
|
Torticollis, Cataract, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Congenital sensorin... |
ORPHA:45358 |
Wolf-Hirschhorn Syndrome |
|
Low-set, posteriorly rotated ears, Hypospadias, Retinopathy, Sclerocornea, Microcephaly, Cryptorc... |
ORPHA:280 |
Mogs-Cdg |
|
Absent brainstem auditory responses, External genital hypoplasia, Sensorineural hearing impairmen... |
ORPHA:79330 |
Joubert Syndrome 37 |
|
Cerebellar vermis hypoplasia, Posteriorly rotated ears, Cryptorchidism, Hypoplasia of the corpus ... |
OMIM:619185 |
Wilson Disease |
|
Hypoparathyroidism, Hemolytic anemia, Dystonia, Osteomalacia, Decreased nerve conduction velocity... |
OMIM:277900 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Cerebellar vermis hypoplasia, Posteriorly rotated ears, Cryptorchidism, Cerebral atrophy, Hypsarr... |
OMIM:618494 |
Pseudohypoparathyroidism Type 1C |
|
Prolonged QT interval, Increased bone mineral density, Cerebral calcification, Cataract, Hypergon... |
ORPHA:79444 |
Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Diabetes insipidus, Adrenal hypoplasia, Microcephaly, Ce... |
OMIM:157170 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Increased HbA2 hemoglobin, Hypoparathyroidism, Extramedullary hematopoiesis, Diabetes... |
ORPHA:231222 |
Dyggve-Melchior-Clausen Disease |
|
Corneal opacity, Hearing impairment, Microcephaly |
ORPHA:239 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Papilledema, Otosclerosis, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal ... |
ORPHA:217093 |
Joubert Syndrome 14 |
|
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Posteriorly rotated ears, Morning gl... |
OMIM:614424 |
Moebius Syndrome |
|
Hypogonadotropic hypogonadism, Abnormal pinna morphology, Facial diplegia, Hypoplasia of the brai... |
OMIM:157900 |
Neurocardiofaciodigital Syndrome |
|
Optic disc pallor, Cerebellar vermis hypoplasia, Cataract, Sclerocornea, Microcephaly, Hypoplasia... |
OMIM:619869 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abnormal bone structure |
ORPHA:83451 |
Hallermann-Streiff Syndrome |
|
Microcephaly, Cryptorchidism, Congestive heart failure, Developmental cataract, Reduced bone mine... |
ORPHA:2108 |
Fraser Syndrome 1 |
|
Anophthalmia, Corneal opacity, Abnormal cortical gyration, Hypospadias, Microcephaly, Abnormal pi... |
OMIM:219000 |
Subcorneal Pustular Dermatosis |
|
Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus |
ORPHA:48377 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Microcephaly, Cryptorchidism, Hypoplasia of the brainstem, H... |
OMIM:193700 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Retinal detachment, Abnormality of retinal pigmentation, Cataract, E... |
ORPHA:394 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia, Decreased skull ossification, Low-set ears, Macrocephaly |
OMIM:300863 |
Isolated Ectopia Lentis |
|
Hypertension, Ectopia pupillae, Cataract, Ectopia lentis |
ORPHA:1885 |
Roberts Syndrome |
|
Clitoral hypertrophy, Cataract, Craniosynostosis, Microcephaly, External ear malformation, Crypto... |
ORPHA:3103 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Cryptorchidism, Neonatal epiphyseal stippling, Blue irides, Optic atrophy, Elevated circulating t... |
OMIM:101800 |
Weill-Marchesani Syndrome 1 |
|
Cataract, Ectopia lentis, Broad skull, Microspherophakia, Shallow anterior chamber, Mitral regurg... |
OMIM:277600 |
Spondyloocular Syndrome |
|
Osteopenia, Retinal detachment, Cataract, Unilateral cryptorchidism, Posteriorly rotated ears, Po... |
OMIM:605822 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia, Peters anomaly |
OMIM:614526 |
Tsh-Secreting Pituitary Adenoma |
|
Osteopenia, Tremor, Elevated circulating thyroid-stimulating hormone concentration, Male hypogona... |
ORPHA:91347 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Papilledema, Otosclerosis, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal ... |
ORPHA:217085 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
Riddle Syndrome |
|
Weight loss, Decreased circulating total IgM, Chromosomal breakage induced by ionizing radiation,... |
ORPHA:420741 |
Mucopolysaccharidosis, Type Vi |
|
Tricuspid regurgitation, Corneal opacity, Splenomegaly, Cardiomyopathy, Mitral regurgitation, Mac... |
OMIM:253200 |
Chromosome 13Q14 Deletion Syndrome |
|
Absent septum pellucidum, Anteverted ears, Cryptorchidism, Retinoblastoma, Hypoplasia of the corp... |
OMIM:613884 |
Arterial Tortuosity Syndrome |
|
Keratoconus, Aortic regurgitation, Hypertension, Astigmatism, Ischemic stroke, Aortic valve steno... |
OMIM:208050 |
Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Remnants of the hyaloid vascular system, Optic nerve hypoplasi... |
OMIM:603671 |
Yunis-Varon Syndrome |
|
Sclerocornea, Micropenis, Pachygyria, Decreased skull ossification, Agenesis of corpus callosum, ... |
ORPHA:3472 |
Cystinosis, Adult Nonnephropathic |
|
Abnormal retinal morphology, Corneal crystals |
OMIM:219750 |
Immunodeficiency, Common Variable, 2 |
|
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Decreased cir... |
OMIM:240500 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Reduced natural killer cell count, ... |
OMIM:620133 |
2Q31.1 Microdeletion Syndrome |
|
Microcephaly, Cryptorchidism, Optic disc coloboma, Coloboma, Cerebral cortical atrophy, Low-set e... |
ORPHA:251014 |
Marden-Walker Syndrome |
|
Hypospadias, Microcephaly, Cryptorchidism, Micropenis, Hypoplasia of the brainstem, Cerebellar hy... |
OMIM:248700 |
Pseudohypoparathyroidism Type 1B |
|
Prolonged QT interval, Increased bone mineral density, Cataract, Decreased response to growth hor... |
ORPHA:94089 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis |
ORPHA:2239 |
Ablepharon Macrostomia Syndrome |
|
Hypoplasia of penis, Corneal opacity, Corneal erosion, Microtia, Atresia of the external auditory... |
ORPHA:920 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Cerebellar vermis hypoplasia, Hypospadias, Posteriorly rotated ears, Abnormal pinna morphology, M... |
OMIM:616975 |
Myhre Syndrome |
|
Abnormal penis morphology, Craniofacial hyperostosis, Cataract, Hypospadias, External genital hyp... |
ORPHA:2588 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Pancytopenia, Spontaneous, recurrent epistaxis, Corneal opacity, Abnormality of the ... |
ORPHA:2072 |
Hydrolethalus |
|
Low-set, posteriorly rotated ears, Anophthalmia, Absent septum pellucidum, Cryptorchidism, Anence... |
ORPHA:2189 |
Larsen Syndrome |
|
Corneal opacity, Cryptorchidism, Multiple carpal ossification centers, Conductive hearing impairm... |
OMIM:150250 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Oligozoospermia, Weight loss, Hypogonadism, Abnorma... |
ORPHA:85450 |
Duane-Radial Ray Syndrome |
|
Cataract, Optic disc hypoplasia, Facial palsy, Aganglionic megacolon, Sensorineural hearing impai... |
OMIM:607323 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Cataract, Tricuspid regurgitation, Thrombocytopenia, Congestive hea... |
ORPHA:508542 |
Infantile Nephropathic Cystinosis |
|
Abnormality of thyroid physiology, Rickets, Abnormal cerebral white matter morphology, Abnormal c... |
ORPHA:411629 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Posteriorly rotated ears, Abnormal retinal morphology, Microcephaly, Bilateral microphthalmos, Si... |
OMIM:610758 |
Microphthalmia-Brain Atrophy Syndrome |
|
Corpus callosum atrophy, Diffuse cerebral atrophy, Bilateral microphthalmos, Microcephaly |
ORPHA:77299 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Cryptorchidism, Developmental c... |
ORPHA:221016 |
Mucopolysaccharidosis, Type Iva |
|
Osteoporosis, Opacification of the corneal stroma, Hearing impairment |
OMIM:253000 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Anemia, Corneal opacity, Craniosynostosis |
ORPHA:79396 |
Weill-Marchesani Syndrome 2 |
|
Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Broad skull, Congestive heart failure, Mic... |
OMIM:608328 |
Mycophenolate Mofetil Embryopathy |
|
Microtia, Anotia, Atresia of the external auditory canal, Chorioretinal coloboma, Microphthalmia,... |
ORPHA:268249 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... |
ORPHA:101085 |
Autosomal Dominant Cutis Laxa |
|
Osteopenia, Aortic regurgitation, Corneal opacity, Microcephaly, Congestive heart failure, Develo... |
ORPHA:90348 |
Peters Plus Syndrome |
|
Low-set, posteriorly rotated ears, Microtia, second degree, Cataract, Corneal opacity, Hypospadia... |
ORPHA:709 |
Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Tremor,... |
ORPHA:3455 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Cataract, Small scrotum, Posteriorly rotated ears, Cryptorchidism, Cerebral atrophy, Microtia, Hy... |
OMIM:601353 |
Fanconi Anemia, Complementation Group N |
|
Aplastic anemia, Chromosomal breakage induced by crosslinking agents, Microcephaly |
OMIM:610832 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Failure to thrive, Lack of T cell function, Increased circulating IgE level |
ORPHA:277 |
Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Cataract, Calcification of the auricular cartilage, Bilateral cryptorchidism, Bone cyst, Osteolys... |
ORPHA:3042 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Small scrotum, Hypospadias, Posteriorly rotated ears, Uplifted earlobe, Microcephaly, Cryptorchid... |
OMIM:616734 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Posteriorly rotated ears, Corneal opacity, Microcephaly, Sensorineural hearing impairment, Low-se... |
OMIM:608670 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Hypoplasia of the pons, Cortical dysplasia, Simplified gyral pattern, Microphallus, Abnormal peri... |
ORPHA:468631 |
Prader-Willi Syndrome |
|
Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim... |
ORPHA:739 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Small scrotum, Microcephaly, Cryptorchidism, Heart murmur, Microtia, Microphthalmia, Hearing impa... |
ORPHA:2728 |
Tangier Disease |
|
Corneal opacity, Hepatosplenomegaly, Anemia, Facial diplegia, Thrombocytopenia |
ORPHA:31150 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microcephaly, Large earlobe, Hypoplasia of the ear cartilage, Microphthalmia, Iris coloboma |
ORPHA:1236 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Osteopenia, Cataract, Microcephaly, Splenomegaly, Optic atrophy, Hypertension, Inferior cerebella... |
OMIM:617913 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Failure to thrive, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circul... |
OMIM:308230 |
Williams Syndrome |
|
Osteopenia, Hypoplasia of penis, Myocardial infarction, Tremor, Protruding ear, Megalocornea, Hyp... |
ORPHA:904 |
Leopard Syndrome 1 |
|
Hypospadias, Cryptorchidism, Micropenis, Hypoplasia of the ovary, Aplasia of the ovary, Delayed m... |
OMIM:151100 |
Heart And Brain Malformation Syndrome |
|
Attached earlobe, Cerebellar vermis hypoplasia, Posteriorly rotated ears, Microcephaly, Cerebral ... |
OMIM:616920 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Resting tremor, Cataract, Sensorineural hearing impairment, Optic atrophy, Cerebral atrophy, Abno... |
ORPHA:314404 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Cataract, Hypospadias, Aganglionic megacolon, Uplifted earlobe, Microcephaly, Apla... |
OMIM:235730 |
Aicardi Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Microcephaly, Precocious puberty, Partia... |
ORPHA:50 |
Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Cataract, Corneal opacity, Hypospadias, Craniosynostosis, Microcephaly, Enlarge... |
OMIM:268300 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Hypoplasia of the ovary, Micropenis, Decreas... |
OMIM:619321 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n... |
OMIM:212050 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Intracerebral periventricular calcifications, Cataract, Spontaneous hemolytic crises, Microcephal... |
ORPHA:168577 |
Congenital Tufting Enteropathy |
|
Optic disc coloboma, Corneal erosion, Cataract, Punctate keratitis |
ORPHA:92050 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Hypoplasia of penis, Microtia |
ORPHA:2547 |
Bartsocas-Papas Syndrome 1 |
|
Absent external genitalia, Bilateral cryptorchidism, Cupped ear, Micropenis, Hypoplastic labia ma... |
OMIM:263650 |
Poems Syndrome |
|
Sclerosis of hand bone, Papilledema, Diabetes mellitus, Sclerosis of foot bone, Abnormality of th... |
ORPHA:2905 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased T cell activation, Decreased specific anti-polysaccharide antibody level, Decreased CD6... |
OMIM:300853 |
Mucopolysaccharidosis Type 6 |
|
Splenomegaly, Opacification of the corneal stroma, Hearing impairment |
ORPHA:583 |
Oculoectodermal Syndrome |
|
Transient ischemic attack, Chorioretinal atrophy, Pineal cyst, Microcornea, Astigmatism, Opacific... |
OMIM:600268 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cerebellar vermis hypoplasia, Corneal opacity, Cataract, Eosinophilia, Thrombocytopenia, Leukocyt... |
OMIM:274000 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Cataract, Hypospadias, Microcephaly, Phimosis, Thrombocytop... |
OMIM:305000 |
Progeroid Short Stature With Pigmented Nevi |
|
Diabetes mellitus, Premature ovarian insufficiency, Hypospadias, Small for gestational age, Impai... |
OMIM:176690 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Impaired T cell function, Decre... |
OMIM:607594 |
Smith-Lemli-Opitz Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Cataract, Hypospadias, Ambiguous genitali... |
ORPHA:818 |
Steinfeld Syndrome |
|
Abnormal pinna morphology, Retinal coloboma, Microphthalmia, Iris coloboma, Hearing impairment |
OMIM:184705 |
Ciliary Dyskinesia, Primary, 1 |
|
Asplenia, Conductive hearing impairment, Abnormal cornea morphology, Male infertility |
OMIM:244400 |
Agel Amyloidosis |
|
Cataract, Facial palsy, Cardiomyopathy, Keratoconjunctivitis sicca, Abnormal spleen morphology, A... |
ORPHA:85448 |
Charge Syndrome |
|
Anophthalmia, External genital hypoplasia, Decreased response to growth hormone stimulation test,... |
OMIM:214800 |
Lymphedema-Distichiasis Syndrome |
|
Conjunctivitis, Recurrent corneal erosions, Microphthalmia, Arrhythmia, Corneal ulceration |
OMIM:153400 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Bifid scrotum, Hypospadias, Posteriorly rotated ears, Microcephaly, Cryptorchidism, Penoscrotal t... |
OMIM:619148 |
Dyskeratosis Congenita |
|
Cataract, Cerebral calcification, Diabetes mellitus, Abnormality of neutrophils, Hearing impairme... |
ORPHA:1775 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Hypospadias, Optic nerve hypoplasia, Facial palsy, Microcephaly, Coloboma, ... |
ORPHA:508498 |
Solitary Median Maxillary Central Incisor |
|
Anophthalmia, Cyclopia, Decreased response to growth hormone stimulation test, Microcephaly, Colo... |
OMIM:147250 |
Tetraamelia Syndrome 1 |
|
Cataract, Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, Adrenal gland ag... |
OMIM:273395 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Death in infancy, Impaired T cell function, Patent ductus arteriosus, Decreased specific anti-pol... |
OMIM:614576 |
Dent Disease |
|
Cataract, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bo... |
ORPHA:1652 |
Stevenson-Carey Syndrome |
|
Posteriorly rotated ears, Coloboma, Cerebellar hypoplasia, Low-set ears, Hypoplasia of the corpus... |
OMIM:611961 |
Pseudotrisomy 13 Syndrome |
|
Posteriorly rotated ears, Cyclopia, Adrenal hypoplasia, Microcephaly, Cryptorchidism, Bicornuate ... |
OMIM:264480 |
Joubert Syndrome 2 |
|
Agenesis of cerebellar vermis, Retinal dystrophy, Optic disc coloboma, Macrocephaly, Hypoplasia o... |
OMIM:608091 |
Bloom Syndrome |
|
Male infertility, Diabetes mellitus, Premature ovarian insufficiency, Small for gestational age, ... |
ORPHA:125 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Splenomegaly, Optic atrophy, Increased head circumference, O... |
OMIM:612301 |
Fryns Syndrome |
|
Bifid scrotum, Hypospadias, Aganglionic megacolon, Shawl scrotum, Cryptorchidism, Hypoplasia of t... |
OMIM:229850 |
Frontonasal Dysplasia 2 |
|
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Craniosynostosis, Microcephaly, Bila... |
OMIM:613451 |
Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia, Iris atrophy, Mixed hearing impairment, Optic atrophy |
OMIM:201180 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Intracerebral periventricular calcifications, Cataract, Microcephaly, Splenomeg... |
OMIM:608885 |
Renpenning Syndrome 1 |
|
Cataract, Hypospadias, Microcephaly, Phimosis, Cupped ear, Cerebral atrophy, Protruding ear, Colo... |
OMIM:309500 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Osteopenia, Small scrotum, Diabetes mellitus, External genital hypoplasia, Cryptorchidism, EEG wi... |
OMIM:614231 |
Apolipoprotein A-I Deficiency |
|
Angina pectoris, Opacification of the corneal stroma |
ORPHA:425 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy |
OMIM:183350 |
Subaortic Stenosis-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Microphthalmia, Arrhythmia, Type II diabetes mellitus |
ORPHA:3191 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality, Erectile dysfunction, Abnormal c... |
ORPHA:206448 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Macrotia, Anophthalmia |
OMIM:600776 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating parathyroi... |
OMIM:277440 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Corneal opacity, Absent septum pellucidum, Aganglionic megacolon, Microcephaly, Keratitis, Crypto... |
ORPHA:2273 |
Cystinosis, Nephropathic |
|
Male infertility, Cerebral calcification, Diabetes mellitus, Splenomegaly, Retinal pigment epithe... |
OMIM:219800 |
Momo Syndrome |
|
Underfolded helix, Abnormality of the thyroid gland, Bilateral microphthalmos, Abnormal bone ossi... |
ORPHA:2563 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Cataract, Menometrorrhagia, Epistaxis, Ocular albinism, Cardiomyopat... |
ORPHA:79430 |
Frontofacionasal Dysplasia |
|
Microcornea, Microphthalmia, Cataract, Iris coloboma |
OMIM:229400 |
Lowe Oculocerebrorenal Syndrome |
|
Osteomalacia, Cryptorchidism, Rickets, Periventricular cysts, Corneal scarring, Developmental cat... |
OMIM:309000 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Failure to thrive in infancy, Partial IgA deficiency, Lack of T cell function, Decreased circulat... |
ORPHA:35078 |
Trisomy 10P |
|
Posteriorly rotated ears, Periventricular white matter hypodensities, Abnormal auditory evoked po... |
ORPHA:171929 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Opacification of the corneal stroma |
OMIM:313400 |
Cat Eye Syndrome |
|
Chorioretinal coloboma, Low-set ears, Pulmonic stenosis, Microphthalmia, Iris coloboma, Hearing i... |
OMIM:115470 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Cataract, Hyperthyroidism, Band keratopathy, Asplenia, Primary adrenal insufficiency, Thymoma, Ke... |
OMIM:269200 |
Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Abnormal antihelix morphology, Large earlobe, Low-set ears, Microphthalmia |
ORPHA:1438 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Decreased circulating parathyroid hormone level, Delayed epiphyseal ossification, Rickets, Sparse... |
OMIM:241530 |
Osteogenesis Imperfecta |
|
Osteopenia, Relative macrocephaly, Mixed hearing impairment, Aortic regurgitation, Corneal opacit... |
ORPHA:666 |
Knobloch Syndrome |
|
Retinal detachment, Cataract, Ectopia lentis, Abnormal vitreous humor morphology, Macular degener... |
ORPHA:1571 |
Cowden Syndrome |
|
Abnormal penis morphology, Endometrial carcinoma, Cataract, Follicular thyroid carcinoma, Enlarge... |
ORPHA:201 |
Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Abnormality of the uterus, Chorioretinal coloboma, Limbal der... |
ORPHA:857 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Abnormality of chromosome stability, Microcephaly,... |
ORPHA:647 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Bifid scrotum, Torticollis, Hypospadias, Craniosynostosis, Microcephaly, Cryptorchidism, Cupped e... |
OMIM:609945 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, External genital hypoplasia, Adrenal hypoplasia, Microcephaly, Asplenia, Spleno... |
OMIM:249000 |
Hypermobile Ehlers-Danlos Syndrome |
|
Keratoconus, Abnormality of the menstrual cycle, Decreased nerve conduction velocity, Cystocele, ... |
ORPHA:285 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Resting tremor, Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Postural tr... |
ORPHA:67036 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Epiphyseal stippling, Cataract |
OMIM:118650 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex |
OMIM:600081 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Fasting hyperinsulinemia, Reduced bone mineral density, Retinal degenerat... |
ORPHA:79474 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
High-frequency sensorineural hearing impairment, Cataract, Sensorineural hearing impairment, Ante... |
OMIM:308940 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Microcep... |
ORPHA:2166 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microcephaly, Cryptorchidism, Microtia, Cerebellar hypoplasia, Low-set ears, Microphthalmia |
OMIM:612530 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... |
OMIM:601859 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Abnormality of T cell physiology, Diabetes mellitus, Septate vagina, Uterus d... |
ORPHA:2237 |
Meckel Syndrome 14 |
|
Tricuspid regurgitation, Decreased calvarial ossification, Mitral regurgitation, Low-set ears, Ap... |
OMIM:619879 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microcephaly, Atresia of the external auditory canal, Microphthalmia, Cyclopia, Iris coloboma, He... |
ORPHA:3186 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating parathyroi... |
OMIM:264700 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Thyroid hypoplasia, Mixed hearing impairment, Aplasia of the thymus, Facial palsy, Progressive se... |
OMIM:620186 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Opacification ... |
ORPHA:79280 |
Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Microcephaly, Simplified gyral pattern, Aplasia/Hypoplasia of the corpus callos... |
OMIM:251230 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia, Agenesis of pineal gland, Agenesis of corpus callosum |
OMIM:614402 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Low-set, posteriorly rotated ears, Pericallosal lipoma, Cataract, Conductive hearing impairment, ... |
ORPHA:306542 |
Kindler Epidermolysis Bullosa |
|
Phimosis, Conjunctivitis, Anemia, Corneal opacity |
ORPHA:2908 |
Alzahrani-Kuwahara Syndrome |
|
Optic disc pallor, Cataract, Hypospadias, Posteriorly rotated ears, Microcephaly, Abnormal cerebr... |
OMIM:619268 |
Myhre Syndrome |
|
Cataract, Microcephaly, Cryptorchidism, Hypertension, Microtia, Low-set ears, Macrocephaly, Micro... |
OMIM:139210 |
3-Methylglutaconic Aciduria, Type Viii |
|
Cataract, Dystonia, Tremor, Sensorineural hearing impairment, Cerebral atrophy, Secondary microce... |
OMIM:617248 |
Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Keratoconus, Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemorrhage, Cryptorchidism, Cy... |
OMIM:130050 |
Blau Syndrome |
|
Pericarditis, Cataract, Band keratopathy, Hypertension, Iritis, Cystoid macular edema, Abnormal c... |
OMIM:186580 |
Velocardiofacial Syndrome |
|
Hypoparathyroidism, Cryptorchidism, Impaired T cell function |
OMIM:192430 |
Van Den Ende-Gupta Syndrome |
|
Posteriorly rotated ears, Sclerocornea, Craniosynostosis, Overfolded helix, Protruding ear, Small... |
OMIM:600920 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Cerebellar vermis hypoplasia, Uplifted earlobe, Asplenia, Abnormal pupil morpholog... |
ORPHA:261552 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Aortic regurgitation, Craniosynostosis, Splenomegaly, Congestive heart failure, Heart... |
OMIM:252500 |
Branchiooculofacial Syndrome |
|
Cataract, Agenesis of cerebellar vermis, Hypospadias, Anophthalmia, Microcephaly, Facial palsy, C... |
OMIM:113620 |
Meckel Syndrome, Type 4 |
|
Agenesis of cerebellar vermis, Microcephaly, Anencephaly, Hypoplasia of the corpus callosum, Micr... |
OMIM:611134 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Cerebellar vermis hypoplasia, Uplifted earlobe, Asplenia, Large basal ganglia, Web... |
ORPHA:261537 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosphatemic ... |
OMIM:300554 |
Holoprosencephaly 7 |
|
Microcephaly, Partial agenesis of the corpus callosum, Bilateral microphthalmos, Panhypopituitari... |
OMIM:610828 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, High urinary g... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, High urinary g... |
ORPHA:99228 |
Monosomy X |
|
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, High urinary g... |
ORPHA:99226 |
Turner Syndrome |
|
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, High urinary g... |
ORPHA:881 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia, Cryptorchidism, Low-set ears |
ORPHA:404440 |
Stuve-Wiedemann Syndrome 1 |
|
Osteoporosis, Abnormal autonomic nervous system physiology, Low-set ears, Opacification of the co... |
OMIM:601559 |
Fetal Alcohol Syndrome |
|
Low-set, posteriorly rotated ears, Microphthalmia, Biparietal narrowing, Microcephaly |
ORPHA:1915 |
Gaucher Disease, Type Iiic |
|
Splenomegaly, Pancytopenia, Mitral stenosis, Opacification of the corneal stroma |
OMIM:231005 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microcephaly, Protruding ear, Low-set ears, Macrocephaly, Microphthalmia |
OMIM:620098 |
Legius Syndrome |
|
Cataract, Dystonia, Acute monocytic leukemia, Paroxysmal atrial tachycardia, Macrocephaly, Ovaria... |
ORPHA:137605 |
Deafness, X-Linked 7 |
|
Atresia of the external auditory canal, Posteriorly rotated ears, Unilateral microphthalmos, Hear... |
OMIM:301018 |
Matthew-Wood Syndrome |
|
Anophthalmia, Cryptorchidism, Abnormal spleen morphology, Abnormality of the uterus, Low-set ears... |
ORPHA:2470 |
Waardenburg Syndrome, Type 4C |
|
Aganglionic megacolon, Cryptorchidism, Sensorineural hearing impairment, Blue irides, Hypogonadis... |
OMIM:613266 |
Neu-Laxova Syndrome 1 |
|
Cataract, Bifid uterus, Cryptorchidism, Lissencephaly, Cerebellar hypoplasia, Low-set ears, Prima... |
OMIM:256520 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Relative macrocephaly, Unicoronal synostosis, Cryptorchidism, Cerebellar hypoplasia, Ambiguous ge... |
OMIM:616300 |
Microphthalmia With Limb Anomalies |
|
Anophthalmia, Posteriorly rotated ears, Unilateral cryptorchidism, Low-set ears, Microphthalmia |
OMIM:206920 |
17Q12 Microduplication Syndrome |
|
Microphthalmia, Cortical dysplasia |
ORPHA:261272 |
Frontonasal Dysplasia 3 |
|
Microphthalmia, Posteriorly rotated ears, Low-set ears |
OMIM:613456 |
3P25.3 Microdeletion Syndrome |
|
Microphthalmia, Cerebral white matter atrophy, Pulmonic stenosis, Sensorineural hearing impairment |
ORPHA:435638 |
Limb Body Wall Complex |
|
Lens subluxation, Anencephaly, Iris coloboma, Corneal opacity |
ORPHA:2369 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulat... |
ORPHA:289157 |
Focal Dermal Hypoplasia |
|
Mixed hearing impairment, Anophthalmia, Ectopia lentis, Microcephaly, Cryptorchidism, Optic atrop... |
OMIM:305600 |
Witteveen-Kolk Syndrome |
|
Decreased response to growth hormone stimulation test, Uplifted earlobe, Cortical dysplasia, Prot... |
OMIM:613406 |
Galloway-Mowat Syndrome 3 |
|
Microcephaly, Simplified gyral pattern, Cerebral atrophy, Hypertension, Lissencephaly, Hypoplasia... |
OMIM:617729 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Posteriorly rotated ears, Optic nerve hypoplasia, Low-set ears |
OMIM:607597 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Lack of T cell function, Decreased circulating antibody level, Decreased lymphocyte proliferation... |
ORPHA:572 |
Alg9-Cdg |
|
Hypoplasia of the ovary, Hypoplastic nipples, Bicornuate uterus |
ORPHA:79328 |
Holoprosencephaly 9 |
|
Anophthalmia, Abnormal cortical gyration, Optic nerve hypoplasia, Microcephaly, Decreased respons... |
OMIM:610829 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Increased circulating IgE level, Increased circulating IgG level, Defective T cell proliferation,... |
OMIM:618213 |
Androgen Insensitivity, Partial |
|
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... |
OMIM:312300 |
Ohdo Syndrome, X-Linked |
|
Small scrotum, Posteriorly rotated ears, Cryptorchidism, Microtia, Low-set ears, Shawl scrotum, M... |
OMIM:300895 |
Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Hereditary Acrokeratotic Poikiloderma |
|
Telangiectasia of the skin, Abnormal preputium morphology, Keratoconjunctivitis, Opacification of... |
ORPHA:2907 |
Degcags Syndrome |
|
Osteopenia, Leukopenia, Iron deficiency anemia, Agenesis of corpus callosum, Hypospadias, Congeni... |
OMIM:619488 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
Hypoplasminogenemia |
|
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology |
ORPHA:722 |
Dent Disease 1 |
|
Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex |
OMIM:300009 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Cerebellar vermis hypoplasia, Uplifted earlobe, Asplenia, Large basal ganglia, Con... |
ORPHA:2152 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia, Cerebellar hypoplasia, Low-set ears |
ORPHA:163966 |
Blau Syndrome |
|
Pericarditis, Cataract, Facial palsy, Keratitis, Splenomegaly, Retrobulbar optic neuritis, Abnorm... |
ORPHA:90340 |
Yunis-Varon Syndrome |
|
Cerebellar vermis hypoplasia, Sclerocornea, Protruding ear, Small earlobe, Pachygyria, Micropenis... |
OMIM:216340 |
Digeorge Syndrome |
|
Parathyroid agenesis, Sclerocornea, Microcephaly, Decreased circulating parathyroid hormone level... |
OMIM:188400 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Hypospadias, Abnormal pinna morphology, Aganglionic megacolon, Microcephaly, Crypto... |
OMIM:309800 |
Bare Lymphocyte Syndrome, Type Ii |
|
Agammaglobulinemia, Cutaneous anergy, Failure to thrive, Panhypogammaglobulinemia |
OMIM:209920 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Aortic regurgitation, Cataract, Sutural cataract, Microcephaly, Tremor, Sensorineural hearing imp... |
OMIM:612474 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Posteriorly rotated ears, Decreased res... |
OMIM:146510 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Reduced delayed hypersensitivity, Failure to thrive, Aplasia of the thymus |
OMIM:242700 |
Sarcoidosis |
|
Heart block, Increased T cell count, Ventricular tachycardia, Leukopenia, Hypothyroidism, Hemolyt... |
ORPHA:797 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Abnormal pinna morphology, Septate vagina, Uterus didelphys, Decreased calvarial ossification, Mi... |
OMIM:617925 |
Proximal Renal Tubular Acidosis |
|
Cataract, Band keratopathy, Hypovolemia, Reduced bone mineral density, Coloboma |
ORPHA:47159 |
Monosomy 9P |
|
Hypospadias, Microcephaly, Cryptorchidism, Abnormal antihelix morphology, Anotia, Microtia, Atres... |
ORPHA:261112 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Cataract, Choroidal neovascu... |
ORPHA:91500 |
Purine Nucleoside Phosphorylase Deficiency |
|
Abnormality of B cell physiology, Failure to thrive, Impaired T cell function, Decreased lymphocy... |
OMIM:613179 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Cataract, Urethrovaginal fistula, Cryptorchidism, Abnormal pelvis bone ossif... |
ORPHA:93271 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Thyroiditis, Decreased lymphocyte proliferation in response to mitogen, Ol... |
ORPHA:83471 |
Meckel Syndrome, Type 2 |
|
Microphthalmia, Anencephaly, Dandy-Walker malformation |
OMIM:603194 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Hypertrophic cardiomyopathy |
OMIM:619053 |
Schinzel-Giedion Syndrome |
|
Streak ovary, Hypospadias, Annular pancreas, Central hypothyroidism, Neural tube defect, Hypoplas... |
ORPHA:798 |
Fontaine Progeroid Syndrome |
|
Cerebellar vermis hypoplasia, Small scrotum, Posteriorly rotated ears, Craniosynostosis, Microcep... |
OMIM:612289 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... |
ORPHA:331206 |
Meckel Syndrome, Type 5 |
|
Microphthalmia, Anencephaly |
OMIM:611561 |
Teebi-Shaltout Syndrome |
|
Microcephaly, Aortic valve stenosis, Low-set ears, Microphthalmia, Small earlobe, Hypoplastic hel... |
OMIM:272950 |
Fraser Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Small scrotum, Hypospadias, Anophthalmia,... |
ORPHA:2052 |
Adams-Oliver Syndrome 1 |
|
Microcephaly, Imperforate hymen, Cortical dysplasia, Hypertension, Pulmonary arterial hypertensio... |
OMIM:100300 |
Vascular Ehlers-Danlos Syndrome |
|
Keratoconus, Hypospadias, Telangiectasia of the skin, Transient ischemic attack, Cryptorchidism, ... |
ORPHA:286 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Cryptorchidism, Bilateral microphthalmos, Multilobulated spleen, Hypoplasia of the ... |
OMIM:601186 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Decreased lymphocyte proliferation in response to anti-CD3, Cutaneous anergy, Failure to thrive, ... |
OMIM:600802 |
Pallister-Hall Syndrome |
|
Small scrotum, Adrenal hypoplasia, Gonadotropin deficiency, Micropenis, Aplasia/hypoplasia of the... |
ORPHA:672 |
Noonan Syndrome 1 |
|
Male infertility, Failure to thrive in infancy, Hypospadias, Cryptorchidism, Patent ductus arteri... |
OMIM:163950 |
Microgastria-Limb Reduction Defect Syndrome |
|
Anophthalmia, Absent septum pellucidum, Abnormal cortical gyration, Abnormality of the spleen, Pe... |
ORPHA:2538 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia, Vaginal atresia |
OMIM:248450 |
Pmm2-Cdg |
|
Osteopenia, Cerebellar vermis hypoplasia, Elevated circulating thyroid-stimulating hormone concen... |
ORPHA:79318 |
Immunodeficiency 58 |
|
Decreased specific antibody response to vaccination, Decreased T cell activation, Failure to thri... |
OMIM:618131 |
Hereditary Orotic Aciduria |
|
Patent ductus arteriosus, Impaired T cell function |
ORPHA:30 |
Fraser Syndrome 2 |
|
Hypoplasia of the thymus, Atresia of the external auditory canal, Low-set ears, Ambiguous genital... |
OMIM:617666 |
Orotic Aciduria |
|
Failure to thrive, Impaired T cell function |
OMIM:258900 |
Microphthalmia With Limb Anomalies |
|
Low-set, posteriorly rotated ears, Cryptorchidism, Optic atrophy, Large earlobe, Microphthalmia, ... |
ORPHA:1106 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
Holoprosencephaly 1 |
|
Diabetes insipidus, Cyclopia, Adrenal hypoplasia, Microcephaly, Cerebellar hypoplasia, Microphtha... |
OMIM:236100 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Hypospadias, Absent septum pellucidum, Abnormal cortical gyration, Bifid uterus... |
OMIM:236680 |
Cystic Fibrosis |
|
Male infertility, Failure to thrive |
OMIM:219700 |
Sarcoidosis, Susceptibility To, 1 |
|
Abnormality of T cell physiology, Enlarged lacrimal glands, Weight loss, Increased circulating an... |
OMIM:181000 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Wiskott-Aldrich Syndrome |
|
Reduced natural killer cell activity, Increased circulating IgA level, Increased circulating IgE ... |
OMIM:301000 |
8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Ectopic posterior pituitary, Posteriorly rotated ears, Optic nerve h... |
ORPHA:508488 |
Craniofacial Microsomia 1 |
|
Anophthalmia, Conductive hearing impairment, Duplicated tragus, Sensorineural hearing impairment,... |
OMIM:164210 |
Isolated Arrhinia |
|
Microphthalmia, Microtia |
ORPHA:1134 |
Treacher Collins Syndrome 1 |
|
Cryptorchidism, Bilateral microphthalmos, Microtia, Atresia of the external auditory canal, Condu... |
OMIM:154500 |