Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Microcornea, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles, Iris coloboma, Whit... |
OMIM:601706 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Short thumb, Chorioretinal coloboma |
OMIM:274205 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Abnormal metaphysis morphology, Macular hyperpigmented dermopathy, Abnormal pelvic girdle bone mo... |
ORPHA:2779 |
Bardet-Biedl Syndrome 18 |
|
Rod-cone dystrophy, Cognitive impairment, Brachydactyly, Retinal dystrophy, Cataract |
OMIM:615995 |
Loose Anagen Syndrome |
|
Iris coloboma, Abnormal hair morphology, Abnormal hair whorl |
ORPHA:168 |
Hypomelanosis Of Ito |
|
Alopecia, Macular hypopigmented whorls, streaks, and patches, Syndactyly, Iris coloboma, Cataract... |
OMIM:300337 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Brachydactyly, Syndactyly, Coloboma, Peters anomaly, Iris coloboma, Clinodactyly, Ocular anterior... |
OMIM:610023 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Abnormality of skin pigmentation, Cataract, Rod-cone dystrophy |
OMIM:300719 |
Synpolydactyly 1 |
|
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... |
OMIM:186000 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Optic atrophy, Generalized hyperpigmentation, Cataract |
ORPHA:2253 |
Tietz Syndrome |
|
Abnormal anterior chamber morphology, Hypopigmentation of the skin, Hypopigmentation of hair, Whi... |
ORPHA:42665 |
Winchester Syndrome |
|
Broad metacarpals, Corneal opacity, Hirsutism, Carpal osteolysis, Osteolysis involving tarsal bones |
OMIM:277950 |
Terminal Osseous Dysplasia |
|
Mesomelic leg shortening, Short toe, Toe clinodactyly, Camptodactyly of toe, Camptodactyly of fin... |
OMIM:300244 |
Polydactyly, Preaxial Ii |
|
Preaxial foot polydactyly, Syndactyly, Duplication of thumb phalanx, Postaxial hand polydactyly, ... |
OMIM:174500 |
Syndactyly Type 2 |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... |
ORPHA:93403 |
Cataract-Microcornea Syndrome |
|
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy |
ORPHA:1377 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Holoprosencephaly, Anophthalmia, Iris coloboma, Bilateral microphthalmos, Microphthalmia, Chorior... |
OMIM:611638 |
Dermochondrocorneal Dystrophy |
|
Abnormality of the hand, Large hands, Corneal dystrophy |
ORPHA:79149 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Cataract 20, Multiple Types |
|
Membranous cataract, Cataract |
OMIM:116100 |
Curry-Jones Syndrome |
|
Generalized hirsutism, Abnormality of thumb phalanx, Preaxial hand polydactyly, Optic disc colobo... |
ORPHA:1553 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Galactosialidosis |
|
Corneal opacity, Cherry red spot of the macula |
ORPHA:351 |
Stickler Syndrome Type 2 |
|
Corneal opacity, Retinopathy, Retinal detachment, Cataract, Abnormal vitreous humor morphology |
ORPHA:90654 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Band keratopathy, Corneal dystrophy |
OMIM:300779 |
Camptosynpolydactyly, Complex |
|
Nail dysplasia, Toenail dysplasia, Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly, ... |
OMIM:607539 |
Griscelli Syndrome, Type 1 |
|
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... |
OMIM:214450 |
X-Linked Retinoschisis |
|
Cataract, Retinoschisis |
ORPHA:792 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Symphalangism affecting the phalanges of the toes, Symphalangism of the 4th finger, Abnormal palm... |
ORPHA:3246 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Aniridia 3 |
|
Cataract |
OMIM:617142 |
Woolly Hair |
|
Abnormality of hair texture, Abnormal pupil morphology, Woolly hair, Brittle hair, Sparse body ha... |
ORPHA:170 |
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia |
|
Aggressive behavior, Fair hair, Developmental cataract, Increased LDL cholesterol concentration |
OMIM:618808 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Biemond Syndrome Ii |
|
Iris coloboma, Preaxial hand polydactyly |
OMIM:210350 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 18 |
|
Cataract |
OMIM:610019 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Heterochromia iridis, Cafe-au-l... |
OMIM:619947 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia, Iris coloboma, Chorioretinal coloboma |
OMIM:616428 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Corneal opacity, Alopecia, Hypopigmentation of hair, Cataract, Aplasia/Hypoplasia of the iris, Pe... |
ORPHA:1067 |
Syndactyly, Type Iii |
|
Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger, 4-5 finger syndactyly |
OMIM:186100 |
Dilution, Pigmentary |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
OMIM:126070 |
Syndactyly Type 1 |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syndactyly |
ORPHA:93402 |
Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Postaxial polydactyly, Attenuation of retinal blood vessels, Cone/cone-rod dy... |
OMIM:614500 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Optic disc pallor, Cataract, Tremor |
OMIM:165300 |
Megalocornea |
|
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Retinal detachment, Astigmatism, Iridod... |
OMIM:309300 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Corneal opacity, Retinal detachment, Posterior embryotoxon, Optic atrophy, Iris coloboma, Catarac... |
ORPHA:1473 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Abruzzo-Erickson Syndrome |
|
Short toe, Brachydactyly, Microcornea, Coloboma, Radioulnar synostosis, Ulnar deviation of finger... |
ORPHA:921 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Proximal symphalangism of hands, Absent dorsal skin creases over affected joints, Small thenar em... |
OMIM:185750 |
Genetic Hyperferritinemia Without Iron Overload |
|
Increased circulating ferritin concentration, Fragile nails, Cataract |
ORPHA:254704 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Albinism, Oculocutaneous, Type Iv |
|
Blue irides, Hypopigmentation of hair, Albinism, Macular hypoplasia, Hypopigmentation of the fundus |
OMIM:606574 |
Griscelli Syndrome Type 3 |
|
Partial albinism, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:79478 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Sparse hair, Alopecia, Onychogryposis of fingernail, Camptodactyly of finger, Fingernail dysplasi... |
ORPHA:2251 |
Uncombable Hair Syndrome 2 |
|
Uncombable hair, Juvenile cataract, Pili canaliculi |
OMIM:617251 |
Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
Cataract 21, Multiple Types |
|
Cerulean cataract, Retinal detachment, Microcornea, Cortical pulverulent cataract, Iris coloboma |
OMIM:610202 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Lens subluxation, Retinal thinning, Rhizomelia, Abnormal epiphysis morphology, Bowing of the long... |
ORPHA:85167 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Bilateral single transverse palmar ... |
ORPHA:1891 |
Foveal Hypoplasia 1 |
|
Presenile cataracts, Hypoplasia of the fovea |
OMIM:136520 |
2Q24 Microdeletion Syndrome |
|
Bullet-shaped distal phalanx of the hallux, Camptodactyly of finger, Long fingers, Coloboma, Cata... |
ORPHA:1617 |
Cataract 9, Multiple Types |
|
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract |
OMIM:604219 |
Acrocephalopolysyndactyly Type Iv |
|
Joint contracture of the hand, Hand polydactyly, Syndactyly, Camptodactyly, Ulnar deviation of th... |
OMIM:201020 |
Wagner Vitreoretinopathy |
|
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... |
OMIM:143200 |
Gombo Syndrome |
|
Radial deviation of finger, Brachydactyly, Clinodactyly, Microphthalmia |
OMIM:233270 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Retinal dysplasia, Microphthalmia |
OMIM:615771 |
Acute Zonal Occult Outer Retinopathy |
|
Abnormal retinal vascular morphology, Rod-cone dystrophy, Retinal pigment epithelial mottling, Ab... |
ORPHA:284454 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Microphthalmia With Limb Anomalies |
|
Abnormal hair morphology, Tibial bowing, Talipes equinovarus, Short palpebral fissure, Hand oligo... |
OMIM:206920 |
Erythrokeratodermia Variabilis |
|
Corneal opacity, Generalized hirsutism, Hypermelanotic macule, Irregular hyperpigmentation, Alope... |
ORPHA:317 |
Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
Hallux Varus And Preaxial Polysyndactyly |
|
Broad hallux, Syndactyly, Hallux varus, Preaxial hand polydactyly |
OMIM:234280 |
Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Hypopigmentation of the skin, Iris hypopigmentation, Short distal phalanx of finger, Aplasia/Hypo... |
ORPHA:2513 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity, Clinodactyly of the 5th finger, Brachydactyly, Abnormal metacarpal morphology, A... |
ORPHA:2370 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Split foot, Retinopathy, Hand monodactyly, Cataract, Split hand |
OMIM:183800 |
Oculocerebrocutaneous Syndrome |
|
Orbital encephalocele, Alopecia, Orbital cyst, Congenital hip dislocation, Anophthalmia, Micropht... |
OMIM:164180 |
Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Macular dystrophy, Recurrent corneal erosions, Corneal dyst... |
OMIM:217800 |
Kahrizi Syndrome |
|
Iris coloboma, Cataract, Elbow flexion contracture |
OMIM:612713 |
Oculocutaneous Albinism |
|
Ocular albinism, Generalized hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of ... |
ORPHA:55 |
Birdshot Chorioretinopathy |
|
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... |
ORPHA:179 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Cataract, Retinal dystrophy |
OMIM:610156 |
Syndactyly, Type Iv |
|
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... |
OMIM:186200 |
Congenital Radioulnar Synostosis |
|
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... |
ORPHA:3269 |
Spastic Paraparesis And Deafness |
|
Tremor, Cataract |
OMIM:312910 |
Ophthalmomandibulomelic Dysplasia |
|
Corneal opacity, Lateral humeral condyle aplasia, Camptodactyly of finger, Megalocornea, Micromel... |
ORPHA:2741 |
Coats Disease |
|
Abnormal retinal vascular morphology, Abnormal anterior chamber morphology, Abnormal macular morp... |
ORPHA:190 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Microcornea, Iris hypopigmentation, Iris coloboma, Freckling, Anterior ... |
ORPHA:3214 |
Nanophthalmos 4 |
|
Optic disc drusen, Microphthalmia |
OMIM:615972 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blood vessels, Rod-cone... |
OMIM:613801 |
Norrie Disease |
|
Corneal opacity, Shallow anterior chamber, Buphthalmos, Retinal detachment, Opacification of the ... |
OMIM:310600 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Corneal opacity, Microcornea |
ORPHA:2432 |
Morm Syndrome |
|
Aggressive behavior, Cataract, Retinal atrophy, Retinal dystrophy |
ORPHA:75858 |
Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
Intellectual Disability-Cataracts-Kyphosis Syndrome |
|
Iris coloboma, Cataract, Elbow flexion contracture |
ORPHA:171860 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Iris coloboma, Cataract |
OMIM:610092 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Iris Pigment Layer, Cleavage Of |
|
Peripheral retinal detachment, Cataract |
OMIM:147610 |
Trichomegaly |
|
Long eyelashes, Cataract |
OMIM:190330 |
Dwarfism With Stiff Joints And Ocular Abnormalities |
|
Delayed ossification of carpal bones, Retinal detachment, Short phalanx of finger, Short lower li... |
OMIM:127200 |
Mucolipidosis Iv |
|
Corneal opacity, Retinal degeneration, Opacification of the corneal stroma, Progressive neurologi... |
OMIM:252650 |
Humero-Radial Synostosis |
|
Elbow ankylosis, Abnormality of the wrist, Iris coloboma, Tarsal synostosis, Aplasia/Hypoplasia o... |
ORPHA:3265 |
Leg, Absence Deformity Of, With Congenital Cataract |
|
Duplication involving bones of the feet, Developmental cataract, Progressive cataract, Optic nerv... |
OMIM:246000 |
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss |
|
Alopecia, Hypopigmentation of the skin, Sparse body hair, Diffuse palmoplantar hyperkeratosis, On... |
OMIM:617294 |
Hidrotic Ectodermal Dysplasia |
|
Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Generalized hypotrichosis, Anonychia, ... |
ORPHA:189 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Orbital cyst, Microphthalmia, Microcornea, Coloboma |
OMIM:251505 |
Microphthalmia With Brain And Digit Anomalies |
|
Nail dysplasia, Finger syndactyly, Microcornea, Iris coloboma, Cataract, Postaxial foot polydacty... |
ORPHA:139471 |
Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology, Microphthalmia |
ORPHA:35612 |
Linear Verrucous Nevus Syndrome |
|
Sparse scalp hair, Abnormal cornea morphology, Iris coloboma, Cataract, Short metacarpal, Toe syn... |
ORPHA:2611 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Iris coloboma, Cataract, Macular atrophy, Chorioretinal coloboma |
OMIM:212550 |
Exudative Vitreoretinopathy 6 |
|
Exudative vitreoretinopathy, Posterior vitreous detachment, Chorioretinal atrophy, Retinal detach... |
OMIM:616468 |
Retinitis Pigmentosa 84 |
|
Macular coloboma, Cataract, Rod-cone dystrophy, Macular atrophy |
OMIM:618220 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cataract, Short metacarpal, Short thumb, Chorioretinal coloboma |
ORPHA:2489 |
Laurence-Moon Syndrome |
|
Brachydactyly, Bilateral single transverse palmar creases, Iris coloboma, Cataract, Hand polydact... |
ORPHA:2377 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Weill-Marchesani Syndrome 4 |
|
Phakodonesis, Iridodonesis, Brachydactyly, Ectopia lentis |
OMIM:613195 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
Anterior Segment Dysgenesis 8 |
|
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... |
OMIM:617319 |
Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Chorioretinal hypopigmentation, Iris tran... |
OMIM:619165 |
Syndactyly Type 5 |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly... |
ORPHA:93406 |
Hereditary Bullous Dystrophy, Macular Type |
|
Congenital abnormal hair pattern, Atrichia, Corneal opacity, Alopecia, Tapered finger, Cataract, ... |
ORPHA:1867 |
Loose Anagen Hair Syndrome |
|
Loose anagen hair, Fair hair, Sparse hair |
OMIM:600628 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Ankyloblepharon, Microphthalmia |
ORPHA:85275 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration, Microphthalmia |
OMIM:251700 |
Gómez-López-Hernández Syndrome |
|
Corneal opacity, Cognitive impairment, Toenail dysplasia, Alopecia of scalp |
ORPHA:1532 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Brachydactyly, Short phalanx of finger, Retinal thinning, Asteroid hyalosis... |
OMIM:132450 |
X-Linked Corneal Dermoid |
|
Corneal opacity, Abnormal pupil morphology |
ORPHA:1661 |
Galactosemia Iv |
|
Cataract, Hypergalactosemia |
OMIM:618881 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Iris coloboma, Microcornea, Peripheral retinal atrophy |
OMIM:615147 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia, Chorioretinal dysplasia |
OMIM:616335 |
Triple A Syndrome |
|
Optic atrophy, Iris coloboma, Generalized hyperpigmentation, Abnormality of the hypothenar eminen... |
ORPHA:869 |
Retinitis Pigmentosa 9 |
|
Rod-cone dystrophy, Macular edema, Cataract, Macular atrophy, Bone spicule pigmentation of the re... |
OMIM:180104 |
Pupillary Membrane, Persistence Of |
|
Megalocornea, Developmental cataract, Persistent pupillary membrane |
OMIM:178900 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Corneal opacity, Optic nerve hypoplasia, Peripheral vitreous opacities, Pseudopapilledema, Optic ... |
ORPHA:137902 |
Temtamy Syndrome |
|
Short toe, Clinodactyly of the 5th finger, Brachydactyly, Genu varum, Iris coloboma, Chorioretina... |
ORPHA:1777 |
Wahab Syndrome |
|
Adducted thumb, Syndactyly, Camptodactyly, Clinodactyly, Short foot, Short palm, Short metacarpal... |
OMIM:615170 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of the skin, Small hand, Hypopigmentation of hair, Abnormal ulnar metaphysis mor... |
ORPHA:177910 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Posterior lenticonus, Microcornea, Retinal dystrophy, Ir... |
ORPHA:231736 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Bilateral microphthalmos, Coloboma, Hypoplasia of the fovea, Optic disc hypoplasia |
OMIM:613703 |
Albinism-Deafness Syndrome |
|
Heterochromia iridis, Irregular hyperpigmentation, Partial albinism, Piebaldism, Hypopigmented sk... |
ORPHA:998 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia |
ORPHA:1574 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Decreased movement range in interphalangeal joints, Elevated circulating creatine kinase concentr... |
OMIM:609115 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Decreased HDL cholesterol concentration, Cataract, Corneal arcus |
OMIM:618463 |
Vogt-Koyanagi-Harada Disease |
|
Sparse scalp hair, Abnormal eyebrow morphology, Cognitive impairment, Poliosis, Retinal detachmen... |
ORPHA:3437 |
Meckel Syndrome, Type 8 |
|
Talipes equinovarus, Anophthalmia, Polydactyly, Postaxial hand polydactyly, Microphthalmia, Encep... |
OMIM:613885 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Retinal coloboma, Iris coloboma, Preaxial polydactyly, Chorioretinal coloboma |
ORPHA:2921 |
Adams-Oliver Syndrome 4 |
|
Hypoplastic toenails, Short toe, Absent middle phalanx of the 3rd toe, Toenail dysplasia, Aplasia... |
OMIM:615297 |
Polydactyly, Postaxial, Type A5 |
|
Postaxial hand polydactyly, Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis |
OMIM:263450 |
Deafness, Autosomal Recessive 108 |
|
Iris coloboma |
OMIM:617654 |
Mucolipidosis Type Iii |
|
Corneal opacity, Large iliac wing, Cognitive impairment, Abnormal hip bone morphology, Hypoplasti... |
ORPHA:577 |
Oculocerebrocutaneous Syndrome |
|
Short distal phalanx of finger, Corneal opacity, Alopecia, Congenital hip dislocation, Abnormal f... |
ORPHA:1647 |
Bardet-Biedl Syndrome 5 |
|
Rod-cone dystrophy, Syndactyly, Brachydactyly, Polydactyly, Macular dystrophy, Obesity |
OMIM:615983 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation, Sparse hair, Abnormality of the hand, Brachydactyly, Short 5... |
ORPHA:1264 |
Microphthalmia, Isolated 5 |
|
Foveoschisis, Abnormal foveal morphology, Rod-cone dystrophy, Cystoid macular edema, Optic disc d... |
OMIM:611040 |
Waardenburg Syndrome, Type 2B |
|
White forelock, Premature graying of hair, Heterochromia iridis |
OMIM:600193 |
Peroxisome Biogenesis Disorder 10A (Zellweger) |
|
Cataract, Epiphyseal stippling |
OMIM:614882 |
Mietens Syndrome |
|
Coxa vara, Corneal opacity, Clinodactyly of the 5th finger, Coxa valga, Elbow ankylosis, Hypoplas... |
ORPHA:2557 |
Galactosemia Ii |
|
Cataract, Hypergalactosemia |
OMIM:230200 |
Retinitis Pigmentosa 37 |
|
Cystoid macular degeneration, Cataract, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:611131 |
Microphthalmia, Isolated 8 |
|
Retinal coloboma, Optic nerve hypoplasia, Retinal detachment, Anophthalmia, True anophthalmia, Mi... |
OMIM:615113 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Iris coloboma, Abnormality of retinal pigmentation, Ectopia lentis, Fingernail dysplasia |
ORPHA:1259 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Hip dysplasia, Finger syndactyly, Radioulnar synostosis |
ORPHA:71289 |
Microspherophakia-Metaphyseal Dysplasia |
|
Microspherophakia, Metaphyseal dysplasia, Lens subluxation, Retinal detachment, Irregular epiphys... |
OMIM:157151 |
Ermine Phenotype |
|
Clinodactyly of the 5th finger, Irregular hyperpigmentation, Ocular albinism, Hypopigmentation of... |
ORPHA:999 |
Oculofaciocardiodental Syndrome |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Flexion contracture of the 2nd toe, Retinal d... |
ORPHA:2712 |
Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Short toe, Syndactyly |
OMIM:614341 |
Macrosomia With Microphthalmia, Lethal |
|
Large for gestational age, Microphthalmia |
OMIM:248110 |
Autosomal Dominant Keratitis |
|
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... |
ORPHA:2334 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hirsutism, Cataract, Congenital bilateral hip dislocation, Talipes equinovarus |
ORPHA:85288 |
Brachydactyly Type A7 |
|
Medially deviated second toe, Clinodactyly of the 5th finger, Short 2nd finger, 2-3 toe syndactyl... |
ORPHA:93397 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Thick eyebrow, Radioulnar synostosis, Synophrys, Abnormality of t... |
ORPHA:3268 |
Corneal Dystrophy, Epithelial Basement Membrane |
|
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy |
OMIM:121820 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Microspherophakia, Megalocornea, Iridodonesis, Deep anterior chamber, Ectopia lentis |
OMIM:251750 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Retinopathy, Microcornea, Optic atrophy, Optic disc pallor, Cataract, Macular atrophy |
OMIM:616171 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Flattened femoral head, Hip dysplasia, Aplasia/hypoplasia involving bones of the extremities, Irr... |
ORPHA:1856 |
Frontonasal Dysplasia 1 |
|
Joint contracture of the hand, Brachydactyly, Coloboma, Postaxial hand polydactyly, Epicanthus, C... |
OMIM:136760 |
Distal Trisomy 18Q |
|
Clinodactyly of the 5th finger, Arachnodactyly, Camptodactyly of finger, Abnormal hair pattern, B... |
ORPHA:1716 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity |
ORPHA:1980 |
Fibular Hemimelia |
|
Craniosynostosis, Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip sublu... |
ORPHA:93323 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Retinal degeneration, Rod-cone dystrophy, Macular degeneration, Anxiety, Optic atrophy, Cataract,... |
OMIM:204200 |
Anophthalmia Plus Syndrome |
|
Anophthalmia, Deviation of finger, Iris coloboma, Eyelid coloboma, Spina bifida, Blepharophimosis |
ORPHA:1104 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Microphthalmia, Retinal detachment, Retinal dystrophy, Optic... |
OMIM:251270 |
Brachydactyly, Type A2 |
|
Medially deviated second toe, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Triangular shap... |
OMIM:112600 |
Bardet-Biedl Syndrome 9 |
|
Retinal degeneration, Rod-cone dystrophy, Postaxial polydactyly, Brachydactyly, Polydactyly, Synd... |
OMIM:615986 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type |
|
Small hand, Cataract, Short foot, Abnormal hand morphology |
OMIM:300261 |
Split-Hand/Foot Malformation 4 |
|
Ectrodactyly, Aplasia/Hypoplasia of the phalanges of the toes, Split foot, Syndactyly, Triphalang... |
OMIM:605289 |
Temtamy Syndrome |
|
Talipes equinovarus, Lens luxation, Brachydactyly, Iris coloboma, Hip dislocation, Short 2nd toe,... |
OMIM:218340 |
Pelvis-Shoulder Dysplasia |
|
Short clavicles, Clinodactyly of the 5th finger, Hypoplastic ilia, Congenital hip dislocation, Op... |
OMIM:169550 |
Monilethrix |
|
Abnormal eyebrow morphology, Sparse hair, Patchy alopecia, Brittle hair, Cognitive impairment, Ab... |
ORPHA:573 |
Syndactyly Type 3 |
|
Short toe, Finger syndactyly, Camptodactyly of finger |
ORPHA:93404 |
Waardenburg Syndrome, Type 2A |
|
Hypoplastic iris stroma, Numerous pigmented freckles, Partial albinism, Albinism, White eyebrow, ... |
OMIM:193510 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Persistent pupillary membrane |
OMIM:225200 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair |
OMIM:606952 |
Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
Scheie Syndrome |
|
Corneal opacity, Genu valgum, Retinal degeneration |
OMIM:607016 |
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Abnormal hair morphology, Iris coloboma, Short foot, Ocular anterior segment dysgenesis, Hip dysp... |
OMIM:601427 |
Osteoporosis-Pseudoglioma Syndrome |
|
Abnormal femoral neck/head morphology, Corneal opacity, Exudative vitreoretinopathy, Metaphyseal ... |
ORPHA:2788 |
Waardenburg Syndrome, Type 3 |
|
Carpal synostosis, Blue irides, Joint contracture of the hand, Cutaneous finger syndactyly, Scapu... |
OMIM:148820 |
Gorlin Syndrome |
|
Arachnodactyly, Brachydactyly, Iris coloboma, Cataract, Melanocytic nevus, Palmar pits |
ORPHA:377 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract |
OMIM:156850 |
Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Central corneal dystrophy, Recurrent corneal erosions, Opacifica... |
ORPHA:98960 |
Santos Syndrome |
|
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Anonychia, Brachyda... |
OMIM:613005 |
Olmsted Syndrome 1 |
|
Nail dysplasia, Alopecia universalis, Corneal opacity, Sparse hair, Subungual hyperkeratosis, Opa... |
OMIM:614594 |
Waardenburg Syndrome, Type 4B |
|
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... |
OMIM:613265 |
Anencephaly 2 |
|
Anencephaly, Short palpebral fissure, Anophthalmia |
OMIM:619452 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Hydrocephalus, Coloboma, Developmental cataract, Ocular anterior segment dysgenesis, Microphthalm... |
ORPHA:324416 |
Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Short distal phalanx of finger, Hypoplastic toenails, Toe syndactyly, Split foot, Camptodactyly o... |
ORPHA:1113 |
Congenital Disorder Of Glycosylation, Type Id |
|
Nail dysplasia, Talipes equinovarus, Joint contracture of the hand, Adducted thumb, Long fingers,... |
OMIM:601110 |
Oculomaxillofacial Dysostosis |
|
Corneal opacity, Adducted thumb, Aplasia/Hypoplasia of the eyebrow, Cognitive impairment, Camptod... |
ORPHA:1794 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Peripapillary atrophy, Optic disc pallor, Cataract, Macular degeneration |
OMIM:618195 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Opacification of the corneal stroma, Epiretinal membrane, Conjunctival hyperemia |
OMIM:148200 |
Leber Congenital Amaurosis 2 |
|
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... |
OMIM:204100 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Upper limb phocomelia, Abnormal hip bone morphology, Small for gestational age, Syndactyly, Polyd... |
ORPHA:294975 |
Lattice Corneal Dystrophy Type I |
|
Corneal scarring, Abnormal cornea morphology, Corneal opacity, Subepithelial corneal opacities, C... |
ORPHA:98964 |
Piebald Trait |
|
Heterochromia iridis, Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, Whi... |
OMIM:172800 |
Martsolf Syndrome 2 |
|
Overlapping toe, Camptodactyly of finger, Camptodactyly, Cataract, Developmental cataract |
OMIM:619420 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Upslanted palpebral fissure, Microcornea, Epicanthus, Cataract, Microphthalmia, Brachycephaly |
ORPHA:2528 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Corneal opacity, Myopic astigmatism, Retinal detachment, Microcornea, Astigmatism, Optic atrophy,... |
OMIM:152950 |
Tietz Albinism-Deafness Syndrome |
|
White eyebrow, White eyelashes, Blue irides, Generalized hypopigmentation |
OMIM:103500 |
Crossed Polysyndactyly |
|
Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Finger syndactyly |
ORPHA:2935 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Partial albinism, Hypopigmentation of hair |
ORPHA:90023 |
Brachydactyly Type B |
|
Short distal phalanx of finger, Broad hallux phalanx, Synostosis of carpal bones, Type B brachyda... |
ORPHA:93383 |
Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly |
|
Partial duplication of eyebrows, Long eyelashes, 2-4 finger syndactyly, 2-3 toe syndactyly |
OMIM:227210 |
Multiple Sulfatase Deficiency |
|
Corneal opacity, Abnormality of retinal pigmentation, Thick eyebrow, Broad hallux phalanx, Coarse... |
ORPHA:585 |
Retinitis Pigmentosa 4 |
|
Cataract, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:613731 |
Pierpont Syndrome |
|
Failure to thrive, Unilateral narrow palpebral fissure, Short toe, Decreased body weight, Promine... |
OMIM:602342 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Acetabular spurs, Supernumerary nipple, Metaphyseal widening, Brachydactyly, Attenuation of retin... |
OMIM:614376 |
Biemond Syndrome Type 2 |
|
Hydrocephalus, Preaxial polydactyly, Coloboma, Microphthalmia, Obesity |
ORPHA:141333 |
Pelvis-Shoulder Dysplasia |
|
Dislocated radial head, Talipes equinovarus, Facial hirsutism, Retinal coloboma, Aplasia/Hypoplas... |
ORPHA:2839 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Finger synd... |
ORPHA:157801 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Megalocornea, Opacification of the co... |
OMIM:164900 |
Albinism, Oculocutaneous, Type Ii |
|
Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Hypoplasia of the fovea, Fre... |
OMIM:203200 |
Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
Leber Congenital Amaurosis 1 |
|
Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc drusen, Fundus atrophy, ... |
OMIM:204000 |
Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation, Corneal dystrophy |
ORPHA:16 |
Central Cloudy Dystrophy Of Francois |
|
Corneal dystrophy, Central corneal dystrophy |
OMIM:217600 |
Schnyder Corneal Dystrophy |
|
Crystalline corneal dystrophy, Corneal dystrophy |
OMIM:121800 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Microphthalmia, Peripheral retinal avascularization, Falciform retin... |
OMIM:305390 |
Retinopathy, Pigmentary, And Mental Retardation |
|
Arachnodactyly, Cataract, Pigmentary retinopathy, Narrow palm |
OMIM:268050 |
Aniridia 2 |
|
Lens subluxation, Optic atrophy, Iris coloboma, Cataract, Aniridia |
OMIM:617141 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Lens subluxation, Cataract, Peripheral vitreoretinal degeneration |
OMIM:614292 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Microphthalmia, Sparse eyebrow, Dolichocephaly, Absent lacrimal p... |
OMIM:167730 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
Cat-Eye Syndrome |
|
Iris coloboma, Hip dysplasia, Chorioretinal coloboma |
ORPHA:195 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Optically empty vitreous, Cataract, Snowflake vitreoretinal degeneration, Cor... |
OMIM:193230 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cryptophthalmos, 2-3 toe syndactyly, Ectopia pupillae, Anophthalmia, Microcornea, Coloboma, Epica... |
OMIM:615877 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Spina bifida o... |
OMIM:102510 |
Neovascular Glaucoma |
|
Abnormal posterior eye segment morphology, Retinal vascular proliferation, Abnormal anterior cham... |
ORPHA:94058 |
Brachydactyly Type B2 |
|
Short distal phalanx of finger, Short toe, Short distal phalanx of toe, Synostosis of carpal bone... |
ORPHA:140908 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation, Sparse hair, Supernumerary nipple, Sparse or absent eyelashe... |
ORPHA:1433 |
Renpenning Syndrome |
|
Abnormal hairshaft morphology, Clinodactyly of the 5th finger, Alopecia, Thin eyebrow, Abnormal t... |
ORPHA:3242 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Iris coloboma, Chorioretinal coloboma |
OMIM:613702 |
Corneal Degeneration, Ribbonlike, With Deafness |
|
Band keratopathy, Ribbonlike corneal degeneration |
OMIM:121450 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Coloboma |
OMIM:614497 |
Fryns Microphthalmia Syndrome |
|
Anophthalmia, Neural tube defect, Microphthalmia |
OMIM:600776 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Cataract, Aminoaciduria, Abnormal fingernail morphology |
ORPHA:2278 |
Congenital Primary Aphakia |
|
Congenital aphakia, Retinal dysplasia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior se... |
ORPHA:83461 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Lower limb undergrowth, Abnormality of femur morphology, Abnormal epiphysis morphology, Cataract |
ORPHA:2310 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy |
OMIM:271310 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Optic atrophy, Elevated circulating creatine kinase concentration, Cataract, Retinal dysplasia |
OMIM:613154 |
Griscelli Syndrome, Type 2 |
|
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... |
OMIM:607624 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Corneal opacity, Low anterior hairline, Retinal detachment, Elevated circulating creatine kinase ... |
OMIM:613153 |
Sjogren-Larsson Syndrome |
|
Macular degeneration, Opacification of the corneal epithelium, Retinal thinning, Astigmatism, Ret... |
OMIM:270200 |
Hartsfield Syndrome |
|
Intrauterine growth retardation, Craniosynostosis, Downslanted palpebral fissures, Telecanthus, A... |
ORPHA:2117 |
Polydactyly, Postaxial, Type A1 |
|
Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Triphalangeal thumb, Broad thumb |
OMIM:174200 |
Urocanase Deficiency |
|
Tremor, Aggressive behavior, Fair hair, Blue irides |
OMIM:276880 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
Sparse scalp hair, Joint contracture of the hand, Sparse eyebrow, Sparse eyelashes, Syndactyly, C... |
OMIM:225280 |
Ectrodactyly-Polydactyly Syndrome |
|
Ectrodactyly, Camptodactyly of finger, Brachydactyly, Symphalangism affecting the phalanges of th... |
ORPHA:1892 |
Goldberg-Shprintzen Megacolon Syndrome |
|
Sparse scalp hair, Iris coloboma, Finger syndactyly, Sparse eyebrow |
ORPHA:66629 |
Anterior Segment Dysgenesis 2 |
|
Congenital aphakia, Corneal opacity, Microcornea, Coloboma, Peters anomaly, Cataract, Posterior s... |
OMIM:610256 |
Adams-Oliver Syndrome |
|
Hydrocephalus, Sparse hair, Alopecia, Abnormality of the upper limb, Cataract, Microphthalmia, Ga... |
ORPHA:974 |
Phenylketonuria |
|
Fair hair, Blue irides, Self-mutilation, Generalized hypopigmentation, Anxiety, Maternal hyperphe... |
OMIM:261600 |
Familial Exudative Vitreoretinopathy |
|
Vitreous hemorrhage, Microphthalmia, Rhegmatogenous retinal detachment, Peripheral retinal avascu... |
ORPHA:891 |
White Forelock With Malformations |
|
Poliosis, White forelock, Aplasia/Hypoplasia of the distal phalanges of the toes |
OMIM:277740 |
Leber Congenital Amaurosis 8 |
|
Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Choriocapilla... |
OMIM:613835 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Retinal dysplasia, Microphthalmia |
OMIM:614830 |
Anterior Segment Dysgenesis 5 |
|
Posterior embryotoxon, Microcornea, Hypoplasia of the fovea, Peters anomaly, Rieger anomaly, Hypo... |
OMIM:604229 |
Cat-Eye Syndrome (Type I) |
|
Iris coloboma |
DECIPHER:42 |
Microphthalmia, Isolated 4 |
|
Coloboma, Postaxial polydactyly, Microphthalmia |
OMIM:613094 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Buphthalmos, ... |
OMIM:221900 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Opacification o... |
OMIM:136120 |
Chromosome 2Q35 Duplication Syndrome |
|
Distal symphalangism of hands, 3-4 finger syndactyly, Cutaneous syndactyly, 2-3 toe syndactyly |
OMIM:185900 |
Premature Ovarian Failure 12 |
|
Macular dystrophy, Microphthalmia |
OMIM:616947 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Corneal opacity, Ulnar deviation of the hand, Metatarsal osteolysis, Bilateral elbow dislocations... |
OMIM:166300 |
Trisomy 13 |
|
Ectrodactyly, Calvarial skull defect, Anophthalmia, Bilateral single transverse palmar creases, P... |
ORPHA:3378 |
Syndactyly Type 4 |
|
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
Oculocutaneous Albinism Type 3 |
|
Blue irides, Hypopigmentation of the skin, Iris hypopigmentation, White eyebrow, White eyelashes,... |
ORPHA:79433 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Pili torti, Hypoplastic toenails, Sparse scalp hair, 2-3 toe cutaneous syndactyly, Patchy alopeci... |
OMIM:613573 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyel... |
ORPHA:2885 |
Brachydactyly-Syndactyly Syndrome |
|
Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin... |
OMIM:610713 |
Liebenberg Syndrome |
|
Radially deviated wrists, Metaphyseal widening, 2-3 finger syndactyly, Brachydactyly, Joint contr... |
OMIM:186550 |
Congenital Rubella Syndrome |
|
Corneal opacity, Abnormality of retinal pigmentation, Cataract, Abnormal metaphysis morphology, A... |
ORPHA:290 |
Frontofacionasal Dysplasia |
|
Absent inner eyelashes, Aplasia/Hypoplasia of the eyebrow, Upper eyelid coloboma, Limbal dermoid,... |
ORPHA:1791 |
Persistent Hyperplastic Primary Vitreous |
|
Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Buphthalmos, ... |
ORPHA:91495 |
Duane Retraction Syndrome |
|
Hypoplastic iris stroma, Aplasia/Hypoplasia of the thumb, Abnormal pupil morphology, Irregular hy... |
ORPHA:233 |
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome |
|
Iris coloboma |
ORPHA:139450 |
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
|
Optic atrophy, Dementia, Cataract, Cognitive impairment |
ORPHA:329314 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Microphakia, Abnormality of retinal pigmentation, Lens subluxation, Arachnodactyly, Retinal detac... |
ORPHA:171844 |
Split-Hand/Foot Malformation 1 |
|
Ectrodactyly, Hand oligodactyly, Split foot, Syndactyly, Broad hallux, Triphalangeal thumb, Clino... |
OMIM:183600 |
Classic Phenylketonuria |
|
Self-injurious behavior, Hypopigmentation of the skin, Mental deterioration, Hypopigmentation of ... |
ORPHA:79254 |
Cohen Syndrome |
|
Low anterior hairline, Thick eyebrow, Abnormality of retinal pigmentation, Clinodactyly of the 5t... |
ORPHA:193 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Optic atrophy, Coloboma, Failure to thrive, Microphthalmia |
OMIM:274270 |
Mulibrey Nanism |
|
Pigmentary retinopathy, Astigmatism, Single transverse palmar crease, Iris coloboma, Corneal dyst... |
OMIM:253250 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Flattened femoral head, Coxa vara, Retinal thinning, Flat capital femoral epiphysis, Metaphyseal ... |
ORPHA:166011 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Optic atrophy, Generalized hyperpigmentat... |
ORPHA:33445 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... |
ORPHA:79435 |
Autosomal Recessive Stickler Syndrome |
|
Epiphyseal dysplasia, Retinal detachment, Vitreoretinopathy, Astigmatism, Genu valgum, Abnormal e... |
ORPHA:250984 |
Acro-Renal-Ocular Syndrome |
|
Radial club hand, Microcornea, Optic disc coloboma, Hypoplasia of the ulna, Cataract, Sandal gap,... |
ORPHA:959 |
Syndactyly, Type V |
|
Short distal phalanx of finger, Carpal synostosis, 3-4 toe syndactyly, Joint contracture of the h... |
OMIM:186300 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Heterochromia iridis, White forelock, Premature graying of hair, Hypopi... |
ORPHA:895 |
Corneal Dystrophy And Perceptive Deafness |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:217400 |
Ring Dermoid Of Cornea |
|
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal astigmatism, Conjunctival de... |
OMIM:180550 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Acrania, Short palpebral fissure, Upslanted palpebral fissure, Holoprosencephaly, Syndactyly, Ast... |
OMIM:618820 |
Flynn-Aird Syndrome |
|
Rod-cone dystrophy, Alopecia, Alopecia of scalp, Cataract, Dementia |
OMIM:136300 |
Carpenter Syndrome |
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Abnormal cornea morphology, Talipes equinovarus, Craniosynostosis, Brachydactyly, Polydactyly, Sy... |
ORPHA:65759 |
Pierpont Syndrome |
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Short toe, Prominent fingertip pads, Small for gestational age, Deep palmar crease, Excessive wri... |
ORPHA:487825 |
Crouzon Syndrome |
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Optic atrophy, Iris coloboma, Melanocytic nevus, Conjunctivitis, Hypopigmented skin patches |
ORPHA:207 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
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Corneal opacity, Metaphyseal widening, Brachydactyly, Limb undergrowth, Coarse metaphyseal trabec... |
OMIM:618961 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
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Hypopigmentation of the skin, Abnormal fingernail morphology, Palmoplantar hyperkeratosis, Hyperp... |
ORPHA:89838 |
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome |
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Hip dislocation, Cataract |
OMIM:212540 |
Nanophthalmos 1 |
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Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
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Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
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Microphthalmia |
OMIM:609549 |
Joint Laxity, Short Stature, And Myopia |
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Iris coloboma, Retinal detachment, Talipes equinovarus, Chorioretinal coloboma |
OMIM:617662 |
2Q31.1 Microdeletion Syndrome |
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Optic disc coloboma, Tapered finger, Abnormality of fibula morphology, Sandal gap, Hypoplastic to... |
ORPHA:251014 |
Curry-Jones Syndrome |
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Hirsutism, Craniosynostosis, Syndactyly, Duplication of thumb phalanx, Cutaneous syndactyly of to... |
OMIM:601707 |
Joubert Syndrome 22 |
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2-3 toe syndactyly, Coloboma, Postaxial hand polydactyly, Postaxial foot polydactyly, Microphthal... |
OMIM:615665 |
Microphthalmia With Limb Anomalies |
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Hydrocephalus, True anophthalmia, Abnormality of the upper limb, Optic atrophy, Sandal gap, Bowin... |
ORPHA:1106 |
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts |
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Cataract |
OMIM:225740 |
Gyrate Atrophy Of Choroid And Retina |
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Subcapsular cataract, Hyperornithinemia, Chorioretinal hyperpigmentation, Aminoaciduria, Abnormal... |
ORPHA:414 |
Idiopathic Uveal Effusion Syndrome |
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Retinal fold, Microphthalmia, Subretinal fluid, Exudative retinal detachment |
ORPHA:209956 |
Split-Hand/Foot Malformation 6 |
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Hand oligodactyly, Split foot, Split hand, Foot oligodactyly, Finger syndactyly, Toe syndactyly |
OMIM:225300 |
Cerebrooculonasal Syndrome |
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Sparse eyebrow, Upslanted palpebral fissure, Sparse eyelashes, Anophthalmia, Postaxial hand polyd... |
ORPHA:66625 |
Senior-Loken Syndrome |
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Cone-shaped epiphysis, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy |
ORPHA:3156 |
Aminopterin Syndrome Sine Aminopterin |
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Intrauterine growth retardation, Decreased body weight, Joint contracture of the hand, Arachnodac... |
OMIM:600325 |
Coloboma, Ocular, Autosomal Dominant |
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Corneal opacity, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc colob... |
OMIM:120200 |
Autosomal Recessive Spastic Paraplegia Type 69 |
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Cataract, Hand tremor |
ORPHA:401830 |
Corneal Dystrophy, Reis-Bucklers Type |
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Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy |
OMIM:608470 |
Eem Syndrome |
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Sparse scalp hair, Ectrodactyly, Abnormality of retinal pigmentation, Absent eyebrow, Sparse body... |
ORPHA:1897 |
Bardet-Biedl Syndrome 4 |
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Retinal degeneration, Rod-cone dystrophy, Syndactyly, Polydactyly, Brachydactyly, Obesity |
OMIM:615982 |
Cystinosis, Adult Nonnephropathic |
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Abnormal retinal morphology, Elevated circulating creatinine concentration, Corneal crystals |
OMIM:219750 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
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Hydrocephalus, Rod-cone dystrophy, Retinal coloboma, Microphthalmia, Obesity |
OMIM:601794 |
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism |
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Short toe, Sparse hair, Sparse eyelashes, Opacification of the corneal stroma, Short phalanx of f... |
OMIM:211370 |
Zika Virus Disease |
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Lens subluxation, Retinal pigment epithelial mottling, Chorioretinal atrophy, Iris coloboma, Wris... |
ORPHA:448237 |
Joubert Syndrome 14 |
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Hydrocephalus, Postaxial polydactyly, Coloboma, Downslanted palpebral fissures, Epicanthus, Micro... |
OMIM:614424 |
Alpha-Methylacyl-Coa Racemase Deficiency |
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Rod-cone dystrophy, Intention tremor, Pigmentary retinopathy, Tremor, Cataract, Elevated levels o... |
OMIM:614307 |
15Q11Q13 Microduplication Syndrome |
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Downslanted palpebral fissures, Epicanthus, Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:238446 |
Bietti Crystalline Dystrophy |
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Subretinal deposits, Cystoid macular edema, Retinal pigment epithelial mottling, Retinal thinning... |
ORPHA:41751 |
Chorea, Remitting, With Nystagmus And Cataract |
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Cataract |
OMIM:601372 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
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Low anterior hairline, Thick eyebrow, Anophthalmia, Telecanthus, Long eyelashes, Synophrys |
ORPHA:411986 |
Amoebic Keratitis |
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Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal posterior eye segme... |
ORPHA:67043 |
Griscelli Syndrome Type 1 |
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Hyperlipidemia, Retinopathy, Partial albinism, Iris hypopigmentation, Premature graying of hair, ... |
ORPHA:79476 |
Harel-Yoon Syndrome |
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Corneal opacity, Optic atrophy, Developmental cataract, Hip dysplasia, Dystonia |
OMIM:617183 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
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Cataract, Microcornea, Rod-cone dystrophy |
OMIM:619082 |
Bartsocas-Papas Syndrome 2 |
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Corneal opacity, 2-5 finger cutaneous syndactyly, Small hand, Popliteal pterygium, Axillary ptery... |
OMIM:619339 |
Odontotrichoungual-Digital-Palmar Syndrome |
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Nail dysplasia, Short distal phalanx of finger, Abnormality of hair texture, Hypopigmentation of ... |
OMIM:601957 |
Corneal Dystrophy, Posterior Amorphous |
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Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Cousin Syndrome |
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Hydrocephalus, Facial hirsutism, Microcornea, Rhizomelia, Microphthalmia, Absent proximal finger ... |
OMIM:260660 |
Greig Cephalopolysyndactyly Syndrome |
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Hydrocephalus, Craniosynostosis, 1-3 toe syndactyly, Downslanted palpebral fissures, Broad hallux... |
OMIM:175700 |
Leber Congenital Amaurosis 6 |
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Keratoconus, Cataract, Attenuation of retinal blood vessels |
OMIM:613826 |
Albinism-Deafness Syndrome |
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Partial albinism, Albinism, Patchy hypo- and hyperpigmentation, Piebaldism |
OMIM:300700 |
Microcephalic Primordial Dwarfism, Toriello Type |
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Short middle phalanx of toe, Short proximal phalanx of hallux, Short proximal phalanx of thumb, S... |
OMIM:251190 |
X-Linked Endothelial Corneal Dystrophy |
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Corneal opacity, Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology |
ORPHA:293621 |
Bartsocas-Papas Syndrome |
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Hypoplastic toenails, Corneal opacity, Aplasia/Hypoplasia of the distal phalanges of the toes, Ab... |
ORPHA:1234 |
Cherubism |
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Optic neuropathy, Macular scar, Marcus Gunn pupil |
OMIM:118400 |
Warburg Micro Syndrome 1 |
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Overlapping toe, Hypertrichosis, Failure to thrive, Facial hypertrichosis, Microcornea, Optic atr... |
OMIM:600118 |
Posterior Polymorphous Corneal Dystrophy |
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Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... |
ORPHA:98973 |
Cerebrooculofacioskeletal Syndrome 3 |
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Rocker bottom foot, Talipes equinovarus, Intrauterine growth retardation, Microphthalmia |
OMIM:616570 |
Oculocutaneous Albinism Type 1 |
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Blue irides, Generalized hypopigmentation, Hypoplasia of the fovea, Depigmented fundus, Optic ner... |
ORPHA:352731 |
Exfoliation Syndrome |
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Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... |
OMIM:177650 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
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Sparse eyebrow, Sparse eyelashes, Adducted thumb, Iris coloboma, Cafe-au-lait spot, Alopecia of s... |
OMIM:618874 |
Late-Onset Retinal Degeneration |
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Abnormal suspensory ligament of lens morphology, Macular degeneration, Patchy atrophy of the reti... |
ORPHA:67042 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
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Cystoid macular degeneration, Microphthalmia, Retinal degeneration, Macular atrophy |
OMIM:267760 |
Mucolipidosis Iii Alpha/Beta |
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Irregular carpal bones, Retinal degeneration, Soft tissue swelling of interphalangeal joints, Inc... |
OMIM:252600 |
Branchio-Oculo-Facial Syndrome |
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Fingernail dysplasia, Microcornea, Coloboma, Iris coloboma, Cataract, Premature graying of hair, ... |
ORPHA:1297 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
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Cone-shaped epiphyses of the phalanges of the hand, Talipes equinovarus, Small hand, Cataract, Sh... |
ORPHA:85172 |
Foveal Hypoplasia 2 |
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Optic nerve misrouting, Microphthalmia, Hypoplasia of the fovea, Foveal hyperpigmentation |
OMIM:609218 |
Microphthalmia, Isolated 3 |
|
Anophthalmia, Ankyloblepharon, Sclerocornea, Microphthalmia |
OMIM:611038 |
Cerebrooculonasal Syndrome |
|
Hydrocephalus, Sparse eyebrow, Sparse eyelashes, Postaxial polydactyly, Optic nerve hypoplasia, C... |
OMIM:605627 |
Dextrocardia With Unusual Facies And Microphthalmia |
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Anophthalmia, Microphthalmia |
OMIM:221950 |
Developmental And Epileptic Encephalopathy 35 |
|
Limb tremor, Cataract, Irritability |
OMIM:616647 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
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Pili torti, Corneal opacity, Sparse hair, Brittle hair, Sparse eyelashes, Sparse body hair, Spars... |
OMIM:602400 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Craniosynostosis, Preaxial hand polydactyly, Broad hallux phalanx, Telecanthus, Po... |
ORPHA:380 |
Focal Dermal Hypoplasia |
|
Corneal opacity, Short clavicles, Abnormal palmar dermatoglyphics, Toe syndactyly, Alopecia, Spli... |
ORPHA:2092 |
Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Arachnodactyly, Radioulnar synostos... |
ORPHA:2725 |
Kapur-Toriello Syndrome |
|
Joint contracture of the hand, Retinal coloboma, Camptodactyly of finger, Overlapping fingers, Bi... |
OMIM:244300 |
Craniotelencephalic Dysplasia |
|
Hydrocephalus, Craniosynostosis, Arrhinencephaly, Optic atrophy, Frontal bossing, Septo-optic dys... |
ORPHA:1528 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Microphthalmia, Ptosis, Coloboma |
OMIM:120433 |
Brachydactyly, Type B2 |
|
Short distal phalanx of finger, Carpal synostosis, Aplasia/Hypoplasia of the middle phalanges of ... |
OMIM:611377 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein AI concentration, Decreased HDL cholesterol concentration, H... |
OMIM:620058 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... |
OMIM:122000 |
Clouston Syndrome |
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Nail dysplasia, Sparse eyebrow, Alopecia, Brittle hair, Abnormality of the hand, Sparse eyelashes... |
OMIM:129500 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
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Hyperpigmented nevi, Broad proximal phalanges of the hand, Optic nerve hypoplasia, Brachyturricep... |
OMIM:607597 |
Oculocerebral Syndrome With Hypopigmentation |
|
Hypopigmentation of the skin, Silver-gray hair |
OMIM:257800 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Alopecia universalis, Clinodactyly of the 5th finger, Widely spaced toes, Tapered distal phalange... |
OMIM:609638 |
Bresek Syndrome |
|
Postaxial hand polydactyly, Optic nerve hypoplasia, Iris coloboma, Alopecia |
ORPHA:85284 |
Distal Monosomy 13Q |
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Abnormality of the hand, Optic atrophy, Abnormal metacarpal morphology, Iris coloboma, Aplasia/Hy... |
ORPHA:1590 |
Piebaldism |
|
Heterochromia iridis, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Piebal... |
ORPHA:2884 |
Craniodigital-Intellectual Disability Syndrome |
|
Generalized hirsutism, Thick eyebrow, Abnormal hair pattern, Spina bifida occulta, Long eyelashes... |
ORPHA:1514 |
Split-Hand/Foot Malformation 2 |
|
Split foot, Short phalanx of finger, Split hand, Short metacarpal, Finger syndactyly |
OMIM:313350 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Generalized hyperpigmentation, Hypopigmentation of hair |
ORPHA:1355 |
Leber Congenital Amaurosis 16 |
|
Optic disc pallor, Cataract |
OMIM:614186 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Ehlers-Danlos Syndrome, Beasley-Cohen Type |
|
Hip dislocation, Cataract |
OMIM:608763 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... |
OMIM:228930 |
Stickler Syndrome, Type Ii |
|
Arachnodactyly, Retinal detachment, Long fingers, Cataract, Abnormal vitreous humor morphology |
OMIM:604841 |
Polydactyly, Preaxial Iv |
|
1-5 toe syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 3-4 finger syndactyly, Dy... |
OMIM:174700 |
Sclerosteosis |
|
Finger syndactyly, 2-3 finger syndactyly, Fingernail dysplasia, Curved distal phalanges of the ha... |
ORPHA:3152 |
Walker-Warburg Syndrome |
|
Hydrocephalus, Microphthalmia, Retinal detachment, Anophthalmia, Retinal dystrophy, Metatarsus va... |
ORPHA:899 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Duplication of metatarsal bones, Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe |
OMIM:600384 |
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the hallux, Aplasia/Hypoplasia of the middl... |
OMIM:609432 |
Isolated Aniridia |
|
Peters anomaly, Cataract, Aplasia/Hypoplasia of the macula, Aniridia |
ORPHA:250923 |
Achondrogenesis Type 2 |
|
Lens subluxation, Delayed proximal femoral epiphyseal ossification, Hypoplastic ilia, Retinal det... |
ORPHA:93296 |
Waardenburg Syndrome, Type 4A |
|
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... |
OMIM:277580 |
Coloboma, Ocular, Autosomal Recessive |
|
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract |
OMIM:216820 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Microphthalmia |
OMIM:615524 |
Oculoauricular Syndrome |
|
Microphakia, Rod-cone dystrophy, Retinal coloboma, Chorioretinal atrophy, Morning glory anomaly, ... |
OMIM:612109 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Cataract, Epiphyseal stippling |
OMIM:614876 |
Wt Limb-Blood Syndrome |
|
Clinodactyly of the 5th finger, Irregular hyperpigmentation, Absent thumb, Ulnar deviation of thu... |
OMIM:194350 |
Spastic Paraplegia 5A, Autosomal Recessive |
|
Cognitive impairment, Optic atrophy, Cataract, Abnormal circulating cholesterol concentration, Up... |
OMIM:270800 |
Nevus Comedonicus Syndrome |
|
Preaxial polydactyly, Cataract, Abnormal hair morphology, Finger syndactyly, Toe syndactyly |
ORPHA:64754 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal dystrophy, Retinal pigment epithelial atrophy, Astigmatism, Peripapil... |
OMIM:616188 |
Incontinentia Pigmenti |
|
Keratitis, Alopecia, Abnormal hand morphology, Uveitis, Cataract, Abnormal toenail morphology, Br... |
ORPHA:464 |
Short Syndrome |
|
Corneal opacity, Abnormal pupil morphology, Sparse hair, Alopecia, Abnormal anterior chamber morp... |
ORPHA:3163 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short distal phalanx of finger, Hypoplastic toenails, Short distal phalanx of the thumb, Short to... |
ORPHA:370010 |
Morning Glory Disc Anomaly |
|
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Optic disc coloboma |
ORPHA:35737 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Corneal opacity, Clinodactyly of the 5th finger, Sparse eyebrow, Dolichocephaly, Lipomas of eyeli... |
ORPHA:2399 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract, Hyperbilirubinemia |
OMIM:618660 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract |
OMIM:619813 |
Congenital Hydrocephalus |
|
Optic atrophy, Iris coloboma |
ORPHA:2185 |
Uncombable Hair Syndrome |
|
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair |
ORPHA:1410 |
Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Nasolacrimal duct obstruction, Microphthalmia, Abnormal hair morphology, Eyelid col... |
OMIM:248450 |
Retinitis Pigmentosa 2 |
|
Rod-cone dystrophy, Pigmentary retinopathy, Fundus atrophy, Cataract, Chorioretinal degeneration,... |
OMIM:312600 |
Raindrop Hypopigmentation |
|
Hypopigmentation of the skin |
OMIM:179500 |
Leber Congenital Amaurosis |
|
Keratoconus, Cataract, Abnormal optic disc morphology, Abnormality of retinal pigmentation |
ORPHA:65 |
Brachydactyly-Syndactyly, Zhao Type |
|
Short fifth metatarsal, Short middle phalanx of the 2nd finger, Symphalangism affecting the phala... |
ORPHA:93409 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Plagiocephaly, Talipes equinovarus, Tricuspid regurgitation, Dolichocephaly, Mitral regurgitation... |
ORPHA:1101 |
Mucolipidosis Type Iv |
|
Palmoplantar keratoderma, Corneal opacity, Abnormality of retinal pigmentation, Retinopathy |
ORPHA:578 |
Central Retinal Vein Occlusion |
|
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... |
ORPHA:411527 |
Trisomy 1Q |
|
Hypoplastic toenails, Hydrocephalus, Arachnodactyly, Camptodactyly of finger, Anophthalmia, Downs... |
ORPHA:261344 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Failure to thrive, Short palpebral fissure, Persistent pupillary membrane, Sparse eyelashes, Smal... |
OMIM:257850 |
Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
Aniridia-Intellectual Disability Syndrome |
|
Optic nerve hypoplasia, Cataract, Ectopia lentis, Aniridia |
ORPHA:1068 |
Sandestig-Stefanova Syndrome |
|
Intrauterine growth retardation, Trigonocephaly, Small for gestational age, Sparse medial eyebrow... |
OMIM:618804 |
Heart-Hand Syndrome, Slovenian Type |
|
Brachydactyly, Aplasia of the middle phalanx of the hand, Syndactyly, Clinodactyly |
OMIM:610140 |
Microspherophakia With Hernia |
|
Microspherophakia, Superior lens subluxation, Retinal detachment |
|