| Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Chorioretinal coloboma, Patchy hypo- and hyperpigmentation, Iris coloboma, Microcornea, White for... |
OMIM:601706 |
| Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Coarse metaphyseal trabecularization, Osteopathia striata, Abnormal diaphysis morphology, White f... |
ORPHA:2779 |
| Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Chorioretinal coloboma, Cataract, Short thumb |
OMIM:274205 |
| Bardet-Biedl Syndrome 18 |
|
Retinal dystrophy, Cataract, Cognitive impairment, Brachydactyly, Rod-cone dystrophy |
OMIM:615995 |
| Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Abnormality of skin pigmentation, Cataract, Rod-cone dystrophy |
OMIM:300719 |
| Loose Anagen Syndrome |
|
Iris coloboma, Abnormal hair morphology, Abnormal hair whorl |
ORPHA:168 |
| Hypomelanosis Of Ito |
|
Hand polydactyly, Iris coloboma, Macular hypopigmented whorls, streaks, and patches, Radial devia... |
OMIM:300337 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Coloboma, Iris coloboma, Ocular anterior segment dysgenesis, Clinodactyly, Syndactyly, Peters ano... |
OMIM:610023 |
| Synpolydactyly 1 |
|
6 metacarpals, 4-5 toe syndactyly, Y-shaped metacarpals, Finger syndactyly, 2nd-5th toe middle ph... |
OMIM:186000 |
| Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Generalized hyperpigmentation, Cataract, Optic atrophy |
ORPHA:2253 |
| Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Abnormal anterior cham... |
ORPHA:42665 |
| Terminal Osseous Dysplasia |
|
Abnormality of skin pigmentation, Mesomelic arm shortening, Camptodactyly of finger, Abnormal han... |
OMIM:300244 |
| Syndactyly Type 2 |
|
Camptodactyly of finger, Mesoaxial polydactyly, 2-3 toe syndactyly, Preaxial foot polydactyly, 3-... |
ORPHA:93403 |
| Polydactyly, Preaxial Ii |
|
Opposable triphalangeal thumb, Postaxial hand polydactyly, Preaxial hand polydactyly, Duplication... |
OMIM:174500 |
| Cataract-Microcornea Syndrome |
|
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy |
ORPHA:1377 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Chorioretinal coloboma, Holoprosencephaly, Iris coloboma, Bilateral microphthalmos, Microphthalmi... |
OMIM:611638 |
| Dermochondrocorneal Dystrophy |
|
Abnormality of the hand, Large hands, Corneal dystrophy |
ORPHA:79149 |
| Cataract 20, Multiple Types |
|
Cataract, Membranous cataract |
OMIM:116100 |
| Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
| Winchester Syndrome |
|
Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the feet, Corneal op... |
OMIM:277950 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
| Corneal Dystrophy, Endothelial, X-Linked |
|
Band keratopathy, Corneal opacity, Corneal dystrophy |
OMIM:300779 |
| Galactosialidosis |
|
Cherry red spot of the macula, Corneal opacity |
ORPHA:351 |
| Stickler Syndrome Type 2 |
|
Abnormal vitreous humor morphology, Corneal opacity, Cataract, Retinal detachment, Retinopathy |
ORPHA:90654 |
| Camptosynpolydactyly, Complex |
|
Small nail, Polydactyly, Camptodactyly, Nail dysplasia, Syndactyly, Toenail dysplasia, Cutaneous ... |
OMIM:607539 |
| X-Linked Retinoschisis |
|
Cataract, Retinoschisis |
ORPHA:792 |
| Corneal Dystrophy, Lisch Epithelial |
|
Corneal dystrophy |
OMIM:300778 |
| Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy |
OMIM:615523 |
| Corneal Degeneration, Band-Shaped Spheroid |
|
Corneal degeneration |
OMIM:217520 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Abnormality of the distal phalanges of the toes, Small hypothenar eminence, Small thenar eminence... |
ORPHA:3246 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
| Aniridia 3 |
|
Cataract |
OMIM:617142 |
| Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia |
|
Increased LDL cholesterol concentration, Developmental cataract, Aggressive behavior, Fair hair |
OMIM:618808 |
| Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
| Biemond Syndrome Ii |
|
Preaxial hand polydactyly, Iris coloboma |
OMIM:210350 |
| Woolly Hair |
|
Hypopigmentation of hair, Abnormal retinal morphology, Slow-growing hair, Cataract, Sparse latera... |
ORPHA:170 |
| 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 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Persistent pupillary membrane, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Corneal ... |
ORPHA:1067 |
| Syndactyly, Type Iii |
|
Absent middle phalanx of 5th finger, 4-5 finger syndactyly, Syndactyly, Short 5th finger |
OMIM:186100 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Chorioretinal coloboma, Iris coloboma, Microphthalmia, Anophthalmia |
OMIM:616428 |
| Dilution, Pigmentary |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:126070 |
| Syndactyly Type 1 |
|
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly |
ORPHA:93402 |
| Curry-Jones Syndrome |
|
Preaxial hand polydactyly, Broad thumb, Toe syndactyly, Finger syndactyly, Optic disc coloboma, I... |
ORPHA:1553 |
| Optic Atrophy 3, Autosomal Dominant |
|
Cataract, Tremor, Optic atrophy, Optic disc pallor |
OMIM:165300 |
| Cone-Rod Dystrophy 16 |
|
Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Postaxial pol... |
OMIM:614500 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Corneal opacity, Cataract, Retinal ... |
ORPHA:1473 |
| Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Increased circulating ferritin concentration, Cataract, Fragile nails |
ORPHA:254704 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Small thenar eminence, Small hypothenar eminence, Reduced proximal interphalangeal joint space, T... |
OMIM:185750 |
| Abruzzo-Erickson Syndrome |
|
Chorioretinal coloboma, Toe syndactyly, Radioulnar synostosis, Coloboma, Iris coloboma, Microcorn... |
ORPHA:921 |
| Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
| Griscelli Syndrome Type 3 |
|
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism |
ORPHA:79478 |
| Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
| Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Albinism, Macular hypoplasia, Hypopigmentation of the fundus, Blue irides |
OMIM:606574 |
| Megalocornea |
|
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... |
OMIM:309300 |
| Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
| Uncombable Hair Syndrome 2 |
|
Pili canaliculi, Uncombable hair, Juvenile cataract |
OMIM:617251 |
| Cataract 21, Multiple Types |
|
Cortical pulverulent cataract, Iris coloboma, Cerulean cataract, Microcornea, Retinal detachment |
OMIM:610202 |
| Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
| Foveal Hypoplasia 1 |
|
Hypoplasia of the fovea, Presenile cataracts |
OMIM:136520 |
| Albinism, Oculocutaneous, Type Iii |
|
Albinism, Partial albinism, Red hair |
OMIM:203290 |
| Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Finger syndactyly, Bilateral single transverse palmar creases, Abnormal hip bone morphology, Clin... |
ORPHA:1891 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Camptodactyly of finger, Onychogryposis of fingernail, Sparse hair, Palmoplantar keratoderma, Fin... |
ORPHA:2251 |
| Cataract 9, Multiple Types |
|
Developmental cataract, Iris coloboma, Cataract, Microcornea, Progressive cataract |
OMIM:604219 |
| Acrocephalopolysyndactyly Type Iv |
|
Hand polydactyly, Camptodactyly, Radial deviation of finger, Clinodactyly, Syndactyly, Ulnar devi... |
OMIM:201020 |
| Griscelli Syndrome, Type 1 |
|
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... |
OMIM:214450 |
| Wagner Vitreoretinopathy |
|
Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Chorioretinal atrophy, Periphera... |
OMIM:143200 |
| Gombo Syndrome |
|
Clinodactyly, Brachydactyly, Microphthalmia, Radial deviation of finger |
OMIM:233270 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Retinal dysplasia, Microphthalmia |
OMIM:615771 |
| Microphthalmia With Limb Anomalies |
|
Postaxial hand polydactyly, Toe syndactyly, Fused fourth and fifth metacarpals, Frontal bossing, ... |
OMIM:206920 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Hallux varus, Preaxial hand polydactyly, Syndactyly, Broad hallux |
OMIM:234280 |
| Norrie Disease |
|
Shallow anterior chamber, Aggressive behavior, Dementia, Hypoplasia of the iris, Cataract, Retina... |
OMIM:310600 |
| Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
| Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Iris hypopigmentation, Aplasia/Hypoplasia of the distal phalanges of the toes, Hypopigmentation o... |
ORPHA:2513 |
| Acute Zonal Occult Outer Retinopathy |
|
Vitritis, Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal pigment epithelial... |
ORPHA:284454 |
| Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Split hand, Cataract, Hand monodactyly, Split foot, Retinopathy |
OMIM:183800 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Abnormality of calvarial morphology, Corneal opacity, Hepatomegaly, Abnormality of the fontanelle... |
ORPHA:2432 |
| 2Q24 Microdeletion Syndrome |
|
Camptodactyly of finger, Abnormality iris morphology, Coloboma, Toe syndactyly, Cataract, Bullet-... |
ORPHA:1617 |
| Apolipoprotein A-I Deficiency |
|
Corneal opacity, Decreased HDL cholesterol concentration |
ORPHA:425 |
| Erythrokeratodermia Variabilis |
|
Hypermelanotic macule, Irregular hyperpigmentation, Abnormality of the nail, Patchy palmoplantar ... |
ORPHA:317 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Hip dysplasia, Corneal opacity, Abnormality of the metacarpal bones, Abnormality of the metaphysi... |
ORPHA:2370 |
| Macular Dystrophy, Corneal |
|
Corneal dystrophy, Punctate opacification of the cornea, Macular dystrophy, Recurrent corneal ero... |
OMIM:217800 |
| Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Cataract, Retinal dystrophy |
OMIM:610156 |
| Oculocutaneous Albinism |
|
Iris hypopigmentation, Hypopigmentation of hair, Generalized hypopigmentation of hair, White eyeb... |
ORPHA:55 |
| Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Radioulnar synostosis, Lateral humeral condyle aplasia, Elbow dislocatio... |
ORPHA:2741 |
| Birdshot Chorioretinopathy |
|
Abnormal chorioretinal morphology, Photoreceptor layer loss on macular OCT, Macular scar, Attenua... |
ORPHA:179 |
| Coats Disease |
|
Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Cataract, Abnormal retinal vascular ... |
ORPHA:190 |
| Leg, Absence Deformity Of, With Congenital Cataract |
|
Optic nerve dysplasia, Developmental cataract, Progressive cataract, Duplication involving bones ... |
OMIM:246000 |
| Alg2-Cdg |
|
Cataract, Iris coloboma |
ORPHA:79326 |
| Nanophthalmos 4 |
|
Optic disc drusen, Microphthalmia |
OMIM:615972 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Iris hypopigmentation, Freckling, Hypopigmentation of hair, Iris coloboma, Hyperpigmentation of t... |
ORPHA:3214 |
| Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
| Syndactyly, Type Iv |
|
6 metacarpals, Polydactyly, 2-3 toe syndactyly, 1-5 finger syndactyly, Supernumerary metacarpal b... |
OMIM:186200 |
| Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
| Polydactyly, Postaxial, Type A5 |
|
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly |
OMIM:263450 |
| Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
| Humero-Radial Synostosis |
|
Chorioretinal coloboma, Tarsal synostosis, Elbow dislocation, Elbow ankylosis, Iris coloboma, Apl... |
ORPHA:3265 |
| Dwarfism With Stiff Joints And Ocular Abnormalities |
|
Short phalanx of finger, Delayed ossification of carpal bones, Cataract, Lower limb undergrowth, ... |
OMIM:127200 |
| Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss |
|
Diffuse palmoplantar hyperkeratosis, Alopecia of scalp, Alopecia, Dystrophic toenail, Sparse body... |
OMIM:617294 |
| Linear Verrucous Nevus Syndrome |
|
Toe syndactyly, Iris coloboma, Sparse scalp hair, Cataract, Abnormal cornea morphology, Short met... |
ORPHA:2611 |
| Trichomegaly |
|
Cataract, Long eyelashes |
OMIM:190330 |
| Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
| Kahrizi Syndrome |
|
Cataract, Elbow flexion contracture, Iris coloboma |
OMIM:612713 |
| Spastic Paraparesis And Deafness |
|
Cataract, Tremor |
OMIM:312910 |
| Exudative Vitreoretinopathy 6 |
|
Exudative vitreoretinopathy, Chorioretinal atrophy, Cataract, Posterior vitreous detachment, Reti... |
OMIM:616468 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Macular atrophy, Chorioretinal coloboma, Iris coloboma, Cataract, Retinal detachment |
OMIM:212550 |
| Retinitis Pigmentosa 84 |
|
Macular atrophy, Cataract, Rod-cone dystrophy, Macular coloboma |
OMIM:618220 |
| Intellectual Disability-Cataracts-Kyphosis Syndrome |
|
Cataract, Elbow flexion contracture, Iris coloboma |
ORPHA:171860 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Orbital cyst, Microcornea, Microphthalmia, Coloboma |
OMIM:251505 |
| Microphthalmia With Brain And Digit Anomalies |
|
Chorioretinal coloboma, Finger syndactyly, Iris coloboma, Nail dysplasia, Cataract, Microcornea, ... |
ORPHA:139471 |
| Syndactyly Type 5 |
|
Camptodactyly of finger, Metacarpal synostosis, 2-3 toe syndactyly, 3-4 finger syndactyly, Short ... |
ORPHA:93406 |
| Nanophthalmos |
|
Abnormal choroid morphology, Abnormality of retinal pigmentation, Microphthalmia |
ORPHA:35612 |
| Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
| Laurence-Moon Syndrome |
|
Hand polydactyly, Finger syndactyly, Iris coloboma, Bilateral single transverse palmar creases, C... |
ORPHA:2377 |
| Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Chorioretinal coloboma, Cataract, Short thumb, Short metacarpal |
ORPHA:2489 |
| Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of hair, Chorioretinal hypopigmentation, Iris transillumination defect, Hypopigm... |
OMIM:619165 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Ankyloblepharon, Microphthalmia, Anophthalmia |
ORPHA:85275 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
| Gómez-López-Hernández Syndrome |
|
Cognitive impairment, Alopecia of scalp, Toenail dysplasia, Corneal opacity |
ORPHA:1532 |
| Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Genu valgum, Asteroid hyalosis, Short phalanx of finger, Retinal thinning, Cataract, Epiphyseal d... |
OMIM:132450 |
| Mucolipidosis Iv |
|
Progressive neurologic deterioration, Corneal opacity, Retinal degeneration, Opacification of the... |
OMIM:252650 |
| Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Microcornea, Peripheral retinal atrophy, Iris coloboma |
OMIM:615147 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia, Chorioretinal dysplasia |
OMIM:616335 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia, Retinal degeneration |
OMIM:251700 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Loose Anagen Hair Syndrome |
|
Loose anagen hair, Sparse hair, Fair hair |
OMIM:600628 |
| Galactosemia Iv |
|
Cataract, Hypergalactosemia |
OMIM:618881 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal upper limb amyotrophy, Shoulder girdle muscle weakness, Cataract, Elevated circulating c... |
OMIM:609115 |
| Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonus, Iris colob... |
ORPHA:231736 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Hip dysplasia, Frontal bossing, Abnormality of epiphysis morphology, Rhizomelia, Hemiatrophy, Sca... |
ORPHA:35173 |
| Temtamy Syndrome |
|
Chorioretinal coloboma, Iris coloboma, Genu varum, Short toe, Clinodactyly of the 5th finger, Bra... |
ORPHA:1777 |
| Oculoauricular Syndrome |
|
Coloboma, Microphakia, Macular hypoplasia, Cataract, Ocular anterior segment dysgenesis, Microcor... |
OMIM:612109 |
| Corneal Dystrophy, Epithelial Basement Membrane |
|
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy |
OMIM:121820 |
| Anterior Segment Dysgenesis 8 |
|
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... |
OMIM:617319 |
| Pupillary Membrane, Persistence Of |
|
Persistent pupillary membrane, Developmental cataract, Megalocornea |
OMIM:178900 |
| Albinism-Deafness Syndrome |
|
Irregular hyperpigmentation, Heterochromia iridis, Partial albinism, Hypopigmented skin patches, ... |
ORPHA:998 |
| Wahab Syndrome |
|
Camptodactyly, Short foot, Clinodactyly, Syndactyly, Short thumb, Short metacarpal, Adducted thum... |
OMIM:615170 |
| Vogt-Koyanagi-Harada Disease |
|
Vitiligo, Abnormal eyebrow morphology, Premature graying of hair, Abnormal eyelash morphology, Po... |
ORPHA:3437 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Iris hypopigmentation, Hypopigmentation of hair, Narrow palm, Small hand, Abnormality of ulnar me... |
ORPHA:177910 |
| Isolated Optic Nerve Hypoplasia/Aplasia |
|
Chorioretinal coloboma, Optic disc hypoplasia, Aplasia/Hypoplasia of the iris, Corneal opacity, P... |
ORPHA:137902 |
| Retinitis Pigmentosa 9 |
|
Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular edema, Rod-cone dystr... |
OMIM:180104 |
| Oculocerebrocutaneous Syndrome |
|
Hand polydactyly, Congenital hip dislocation, Finger syndactyly, Iris coloboma, Corneal opacity, ... |
ORPHA:1647 |
| Pelvis-Shoulder Dysplasia |
|
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Iris coloboma, Opacification ... |
OMIM:169550 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Optic disc hypoplasia, Hypoplasia of the fovea, Bilateral microphthalmos, Coloboma |
OMIM:613703 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Congenital abnormal hair pattern, Atrichia, Spotty hypopigmentation, Short finger, Corneal opacit... |
ORPHA:1867 |
| Deafness, Autosomal Recessive 108 |
|
Iris coloboma |
OMIM:617654 |
| Bardet-Biedl Syndrome 5 |
|
Polydactyly, Obesity, Syndactyly, Brachydactyly, Rod-cone dystrophy, Macular dystrophy |
OMIM:615983 |
| Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Retinal coloboma, Chorioretinal coloboma, Preaxial polydactyly, Iris coloboma |
ORPHA:2921 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation, Sparse hair, Short 5th metacarpal, Uncombable hair, Abnormal... |
ORPHA:1264 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Microphthalmia |
ORPHA:1574 |
| Mucolipidosis Type Iii |
|
Large iliac wing, Hypoplastic inferior ilia, Corneal opacity, Abnormal hip bone morphology, Cogni... |
ORPHA:577 |
| Waardenburg Syndrome, Type 2B |
|
White forelock, Heterochromia iridis, Premature graying of hair |
OMIM:600193 |
| Mental Retardation, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
| Peroxisome Biogenesis Disorder 10A (Zellweger) |
|
Cataract, Epiphyseal stippling |
OMIM:614882 |
| Mietens Syndrome |
|
Hip dysplasia, Hypoplasia of the radius, Elbow dislocation, Elbow ankylosis, Corneal opacity, Hyp... |
ORPHA:2557 |
| Galactosemia Ii |
|
Cataract, Hypergalactosemia |
OMIM:230200 |
| Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Developmental cataract, Optic atrophy, Corneal dystrophy |
ORPHA:2572 |
| Microphthalmia, Isolated 5 |
|
Abnormality of skin pigmentation, Optic disc drusen, Rod-cone dystrophy, Retinal pigment epitheli... |
OMIM:611040 |
| Retinitis Pigmentosa 37 |
|
Cataract, Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:611131 |
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Dementia, Psychomotor deterioration, Cataract, Anxiety, Optic atrophy, Macular degeneration, Rod-... |
OMIM:204200 |
| Brachydactyly Type A7 |
|
Medially deviated second toe, Aplasia/Hypoplasia of the middle phalanges of the hand, Short hallu... |
ORPHA:93397 |
| Autosomal Dominant Keratitis |
|
Aniridia, Coloboma, Macular hypoplasia, Cataract, Keratitis, Microcornea, Opacification of the co... |
ORPHA:2334 |
| Fibular Hemimelia |
|
Hip subluxation, Craniosynostosis, Bowing of the legs, Anophthalmia, Abnormality of fibula morpho... |
ORPHA:93323 |
| Macrosomia With Microphthalmia, Lethal |
|
Large for gestational age, Microphthalmia |
OMIM:248110 |
| Triple A Syndrome |
|
Palmoplantar keratoderma, Iris coloboma, Generalized hyperpigmentation, Abnormality of the hypoth... |
ORPHA:869 |
| Corneal Hypesthesia, Familial |
|
Decreased corneal sensation, Recurrent corneal erosions |
OMIM:122450 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hip dysplasia, Type E brachydactyly, Limited elbow extension, Delayed pubic bone ossification, Sh... |
ORPHA:1856 |
| Ermine Phenotype |
|
Iris hypopigmentation, Hypopigmentation of hair, Irregular hyperpigmentation, Toe syndactyly, Ocu... |
ORPHA:999 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Macular atrophy, Cataract, Microcornea, Optic atrophy, Retinopathy, Optic disc pallor |
OMIM:616171 |
| Lattice Corneal Dystrophy Type I |
|
Decreased corneal sensation, Recurrent corneal erosions, Central posterior corneal opacity, Subep... |
ORPHA:98964 |
| Anophthalmia Plus Syndrome |
|
Spina bifida, Blepharophimosis, Iris coloboma, Anophthalmia, Eyelid coloboma, Deviation of finger |
ORPHA:1104 |
| Bardet-Biedl Syndrome 9 |
|
Postaxial hand polydactyly, Attenuation of retinal blood vessels, Polydactyly, Postaxial polydact... |
OMIM:615986 |
| Brachydactyly, Type A2 |
|
Medially deviated second toe, Triangular shaped middle phalanx of the 5th finger, Short hallux, T... |
OMIM:112600 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Talipes equinovarus, Cataract, Hirsutism, Congenital bilateral hip dislocation |
ORPHA:85288 |
| Congenital Disorder Of Glycosylation, Type Ii |
|
Cataract, Coloboma |
OMIM:607906 |
| Distal Trisomy 18Q |
|
Camptodactyly of finger, Iris coloboma, Large hands, Bilateral single transverse palmar creases, ... |
ORPHA:1716 |
| Syndactyly Type 3 |
|
Camptodactyly of finger, Short toe, Finger syndactyly |
ORPHA:93404 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Radioulnar synostosis, Finger syndactyly, Abnormality of the elbow, Synophrys, Thick eyebrow, Cli... |
ORPHA:3268 |
| Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity |
ORPHA:1980 |
| Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly |
|
Short proximal phalanx of finger, Short toe, Short finger, Juvenile cataract, Short metacarpal, P... |
OMIM:191482 |
| Sjogren-Larsson Syndrome |
|
Retinal pigment epithelial atrophy, Macular degeneration, Retinal thinning, Opacification of the ... |
OMIM:270200 |
| Oculofaciocardiodental Syndrome |
|
Genu valgum, Cubitus valgus, Highly arched eyebrow, Radioulnar synostosis, Broad palm, 2-3 toe sy... |
ORPHA:2712 |
| Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Hip dysplasia, Abnormal hair morphology, Iris coloboma, Ocular anterior segment dysgenesis, Short... |
OMIM:601427 |
| Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation, Ectopia lentis, Iris coloboma, Fingernail dysplasia |
ORPHA:1259 |
| Monilethrix |
|
Abnormal eyebrow morphology, Abnormality of the nail, Sparse hair, Abnormal eyelash morphology, S... |
ORPHA:573 |
| Congenital Radioulnar Synostosis |
|
Dislocated radial head, Abnormal morphology of the radius, Radioulnar synostosis, Congenital hip ... |
ORPHA:3269 |
| Waardenburg Syndrome, Type 3 |
|
Camptodactyly of finger, Scapular winging, Heterochromia iridis, Premature graying of hair, Carpa... |
OMIM:148820 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosis, Finger syndactyly |
ORPHA:71289 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretinal dysplasia, R... |
OMIM:251270 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type |
|
Cataract, Small hand, Abnormal hand morphology, Short foot |
OMIM:300261 |
| Santos Syndrome |
|
Oligodactyly, Genu valgum, Anonychia, Polydactyly, Preaxial polydactyly, Postaxial polydactyly, M... |
OMIM:613005 |
| Bardet-Biedl Syndrome 6 |
|
Polydactyly, Retinal dystrophy, Syndactyly, Rod-cone dystrophy, Obesity |
OMIM:605231 |
| Gorlin Syndrome |
|
Palmar pits, Melanocytic nevus, Iris coloboma, Cataract, Arachnodactyly, Brachydactyly |
ORPHA:377 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Cataract |
OMIM:156850 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Cataract 12, Multiple Types |
|
Developmental cataract, Progressive cataract |
OMIM:611597 |
| Oculocerebrocutaneous Syndrome |
|
Congenital hip dislocation, Orbital cyst, Anophthalmia, Microphthalmia, Alopecia, Eyelid coloboma |
OMIM:164180 |
| Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin |
OMIM:606952 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Exudative vitreoretinopathy, Abnormal femoral neck/head morphology, Abnormal vitreous humor morph... |
ORPHA:2788 |
| Olmsted Syndrome 1 |
|
Sparse hair, Palmoplantar keratoderma, Corneal opacity, Nail dysplasia, Subungual hyperkeratosis,... |
OMIM:614594 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Stillbirth, Upper limb phocomelia, Polydactyly, Syndactyly, Abnormal hip bone morphology, Small f... |
ORPHA:294975 |
| Waardenburg Syndrome, Type 4B |
|
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... |
OMIM:613265 |
| Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Camptodactyly of finger, Absent toenail, Hypoplastic toenails, Toe syndactyly, Anonychia, Symphal... |
ORPHA:1113 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Coloboma, Rhizomelia, Epicanthus, Long eyelashes, Ectopia pupillae, Cataract, Microcornea, Microp... |
OMIM:615877 |
| Oculomaxillofacial Dysostosis |
|
Camptodactyly of finger, Abnormal eyelash morphology, Corneal opacity, Sparse or absent eyelashes... |
ORPHA:1794 |
| Split-Hand/Foot Malformation 4 |
|
Split hand, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the phalange... |
OMIM:605289 |
| Leber Congenital Amaurosis 2 |
|
Keratoconus, Cataract, Pigmentary retinopathy, Fundus atrophy |
OMIM:204100 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Chorioretinal lacunae, Chorioretinal dysplasia, Retinal fold, Aggressive behavior, Corneal opacit... |
OMIM:152950 |
| Scheie Syndrome |
|
Genu valgum, Corneal opacity, Retinal degeneration |
OMIM:607016 |
| Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Cataract, Peripapillary atrophy, Macular degeneration, Optic disc pallor |
OMIM:618195 |
| Brachydactyly Type B |
|
Synostosis of carpal bones, 2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad ha... |
ORPHA:93383 |
| Piebald Trait |
|
Heterochromia iridis, Partial albinism, White forelock, Absent pigmentation of the ventral chest,... |
OMIM:172800 |
| Tietz Albinism-Deafness Syndrome |
|
White eyelashes, White eyebrow, Generalized hypopigmentation, Blue irides |
OMIM:103500 |
| Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:614072 |
| Retinitis Pigmentosa 2 |
|
Cataract, Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:312600 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Upslanted palpebral fissure, Epicanthus, Cataract, Microcornea, Brachycephaly, Microphthalmia |
ORPHA:2528 |
| Acropectorovertebral Dysplasia |
|
Toe syndactyly, Spina bifida occulta at L5, Broad thumb, Finger syndactyly, Synostosis of carpal ... |
OMIM:102510 |
| Weill-Marchesani Syndrome 4 |
|
Iridodonesis, Phakodonesis, Brachydactyly, Ectopia lentis |
OMIM:613195 |
| Split-Foot Malformation With Mesoaxial Polydactyly |
|
Cutaneous syndactyly |
OMIM:616890 |
| Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Central corneal dystrophy, Opacification of the corneal stroma, ... |
ORPHA:98960 |
| Congenital Disorder Of Glycosylation, Type Id |
|
Small nail, Iris coloboma, Clinodactyly of the 5th toe, Nail dysplasia, Clinodactyly, Joint contr... |
OMIM:601110 |
| Dysequilibrium Syndrome |
|
Cataract |
ORPHA:1766 |
| Leber Congenital Amaurosis 1 |
|
Keratoconus, Pigmentary retinopathy, Hyperthreoninemia, Cataract, Fundus atrophy, Hyperthreoninuria |
OMIM:204000 |
| Biemond Syndrome Type 2 |
|
Coloboma, Preaxial polydactyly, Microphthalmia, Hydrocephalus, Obesity |
ORPHA:141333 |
| Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Short hallux, Aplasia/Hypoplasia of the middle phalanges of the hand, Aplasia/Hypoplasia of the h... |
ORPHA:157801 |
| Pelvis-Shoulder Dysplasia |
|
Dislocated radial head, Camptodactyly of finger, Mesomelic/rhizomelic limb shortening, Retinal co... |
ORPHA:2839 |
| Waardenburg Syndrome, Type 2A |
|
Albinism, Heterochromia iridis, Premature graying of hair, White eyebrow, Synophrys, White eyelas... |
OMIM:193510 |
| Crossed Polysyndactyly |
|
Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Finger syndactyly |
ORPHA:2935 |
| Brachydactyly Type B2 |
|
Short toe, Finger syndactyly, Synostosis of carpal bones, Absent fingernail, Short distal phalanx... |
ORPHA:140908 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Peripheral vitreous opacities,... |
OMIM:305390 |
| Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
| Schnyder Corneal Dystrophy |
|
Crystalline corneal dystrophy, Corneal dystrophy |
OMIM:121800 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Snowflake vitreoretinal degeneration, Cataract, Optically empty vitreous, Retinal dots, Corneal g... |
OMIM:193230 |
| Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation, Corneal dystrophy |
ORPHA:16 |
| Retinitis Pigmentosa 4 |
|
Cataract, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:613731 |
| Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
| Fryns Microphthalmia Syndrome |
|
Anophthalmia, Microphthalmia, Neural tube defect |
OMIM:600776 |
| Pierpont Syndrome |
|
Deep palmar crease, Blepharophimosis, Broad palm, Midface retrusion, Unilateral narrow palpebral ... |
OMIM:602342 |
| Retinopathy, Pigmentary, And Mental Retardation |
|
Cataract, Arachnodactyly, Narrow palm, Pigmentary retinopathy |
OMIM:268050 |
| Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Broad thumb, Broad hallux phalanx, Corneal opacity, Coarse h... |
ORPHA:585 |
| Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly |
|
Partial duplication of eyebrows, 2-3 toe syndactyly, 2-4 finger syndactyly, Long eyelashes |
OMIM:227210 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
| Absence Deformity Of Leg-Cataract Syndrome |
|
Cataract, Lower limb undergrowth, Abnormality of femur morphology, Abnormality of epiphysis morph... |
ORPHA:2310 |
| Cat-Eye Syndrome |
|
Hip dysplasia, Chorioretinal coloboma, Iris coloboma |
ORPHA:195 |
| Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Ectopia lentis, Corneal opacity |
OMIM:613086 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Retinal dysplasia, Cataract, Optic atrophy, Elevated circulating creatine kinase concentration |
OMIM:613154 |
| Corneal Degeneration, Ribbonlike, With Deafness |
|
Band keratopathy, Ribbonlike corneal degeneration |
OMIM:121450 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Coloboma, Corneal opacity, Cataract, Retinal detachment, Elevated circulating creatine kinase con... |
OMIM:613153 |
| Renpenning Syndrome |
|
Abnormal thumb morphology, Iris coloboma, Cataract, Abnormal hair laboratory examination, Alopeci... |
ORPHA:3242 |
| Temtamy Syndrome |
|
Chorioretinal coloboma, Highly arched eyebrow, Lens luxation, Iris coloboma, Ectopia lentis, Shor... |
OMIM:218340 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Chorioretinal coloboma, Iris coloboma |
OMIM:613702 |
| Neovascular Glaucoma |
|
Retinal vein occlusion, Abnormal posterior eye segment morphology, Iris neovascularization, Abnor... |
ORPHA:94058 |
| Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Decreased mobility 3rd-5th fingers, Lateral humeral condyle aplasia, Elbow disloca... |
OMIM:164900 |
| Meckel Syndrome, Type 8 |
|
Postaxial hand polydactyly, Polydactyly, Microphthalmia, Anophthalmia, Talipes equinovarus |
OMIM:613885 |
| Goldberg-Shprintzen Megacolon Syndrome |
|
Sparse scalp hair, Sparse and thin eyebrow, Iris coloboma, Finger syndactyly |
ORPHA:66629 |
| Trisomy 13 |
|
Postaxial hand polydactyly, Calvarial skull defect, Abnormal eyelash morphology, Aplasia/Hypoplas... |
ORPHA:3378 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Hydrocephalus, Retinal dysplasia |
OMIM:614830 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
| Ring Dermoid Of Cornea |
|
Abnormal conjunctiva morphology, Corneal astigmatism, Abnormal cornea morphology, Conjunctival de... |
OMIM:180550 |
| Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
Sparse eyelashes, Split hand, Camptodactyly, Sparse scalp hair, Syndactyly, Sparse and thin eyebr... |
OMIM:225280 |
| Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Albinism, Freckles in sun-exposed areas, Red hair, Hypopigmentation of ... |
OMIM:203200 |
| Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Cataract, Aminoaciduria, Abnormal fingernail morphology |
ORPHA:2278 |
| Urocanase Deficiency |
|
Fair hair, Tremor, Blue irides, Aggressive behavior |
OMIM:276880 |
| Ectrodactyly-Polydactyly Syndrome |
|
Camptodactyly of finger, Postaxial hand polydactyly, Finger syndactyly, Symphalangism affecting t... |
ORPHA:1892 |
| Congenital Primary Aphakia |
|
Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia, Sclerocornea, R... |
ORPHA:83461 |
| Griscelli Syndrome, Type 2 |
|
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... |
OMIM:607624 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 4 |
|
Cataract |
OMIM:615412 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Coloboma |
OMIM:614497 |
| Polydactyly, Postaxial, Type A1 |
|
Postaxial hand polydactyly, Broad thumb, Preaxial polydactyly, Syndactyly, Triphalangeal thumb |
OMIM:174200 |
| Hidrotic Ectodermal Dysplasia |
|
Irregular hyperpigmentation, Sparse axillary hair, Generalized hyperpigmentation, Fragile nails, ... |
ORPHA:189 |
| Greig Cephalopolysyndactyly Syndrome |
|
Craniosynostosis, Broad thumb, 1-3 toe syndactyly, Broad hallux phalanx, Hirsutism, Trigonocephal... |
OMIM:175700 |
| Phenylketonuria |
|
Self-mutilation, Maternal hyperphenylalaninemia, Aggressive behavior, Hyperphenylalaninemia, Fair... |
OMIM:261600 |
| Fish-Eye Disease |
|
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Opacification of the corneal stro... |
OMIM:136120 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation, Sparse hair, Finger syndactyly, Ungual fibroma, Sparse or ab... |
ORPHA:1433 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Short iliac bones, Rhizomelia, Elevated circulating creatinine concentration, Cataract, Short foo... |
OMIM:614376 |
| Oculocutaneous Albinism Type 3 |
|
Iris hypopigmentation, Freckling, Generalized hypopigmentation of hair, White eyebrow, Red hair, ... |
ORPHA:79433 |
| Cat-Eye Syndrome (Type I) |
|
Iris coloboma |
DECIPHER:42 |
| Anterior Segment Dysgenesis 5 |
|
Developmental cataract, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Peters ano... |
OMIM:604229 |
| Chromosome 2Q35 Duplication Syndrome |
|
Cutaneous syndactyly, 2-3 toe syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands |
OMIM:185900 |
| Brachydactyly-Syndactyly Syndrome |
|
Oligodactyly, Short phalanx of finger, Finger syndactyly, Camptodactyly, Syndactyly, Short digit,... |
OMIM:610713 |
| Duane Retraction Syndrome |
|
Abnormal pupil morphology, Talipes equinovarus, Central heterochromia, Irregular hyperpigmentatio... |
ORPHA:233 |
| Liebenberg Syndrome |
|
2-3 finger syndactyly, Joint contracture of the 5th finger, Abnormality of the carpal bones, Meta... |
OMIM:186550 |
| White Forelock With Malformations |
|
Aplasia/Hypoplasia of the distal phalanges of the toes, Poliosis, White forelock |
OMIM:277740 |
| Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal dystrophy, Opacification of the corneal stroma, Corneal erosion |
OMIM:608470 |
| Premature Ovarian Failure 12 |
|
Microphthalmia, Macular dystrophy |
OMIM:616947 |
| Microphthalmia, Isolated 4 |
|
Postaxial polydactyly, Microphthalmia, Coloboma |
OMIM:613094 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Hypopigmentation of hair, Irregular hyperpigmentation, Abnormal eyebrow morphology, Heterochromia... |
ORPHA:2885 |
| Microspherophakia-Metaphyseal Dysplasia |
|
Irregular epiphyses, Microspherophakia, Lens coloboma, Metaphyseal dysplasia, Retinal detachment,... |
OMIM:157151 |
| Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the iris, Corneal opacity, Cataract, A... |
ORPHA:290 |
| Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
|
Cognitive impairment, Cataract, Optic atrophy, Dementia |
ORPHA:329314 |
| Exfoliation Syndrome |
|
Retinal vein occlusion, Anisocoria, Pigment deposition in the trabecular meshwork, Cataract, Pseu... |
OMIM:177650 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Shallow anterior chamber, Remnants of the hyaloid vascular system, Persistent pupill... |
OMIM:221900 |
| Syndactyly, Type V |
|
3-4 toe syndactyly, 4-5 toe syndactyly, Camptodactyly of finger, Fused fourth and fifth metacarpa... |
OMIM:186300 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Hip dysplasia, Genu valgum, Asteroid hyalosis, Abnormalities of the metaphyses of the hand, Abnor... |
ORPHA:166011 |
| Cohen Syndrome |
|
Abnormality of skin pigmentation, Genu valgum, Abnormality of retinal pigmentation, Cubitus valgu... |
ORPHA:193 |
| Autosomal Recessive Stickler Syndrome |
|
Genu valgum, Abnormality of epiphysis morphology, Cataract, Vitreoretinopathy, Retinal detachment... |
ORPHA:250984 |
| Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
| Amoebic Keratitis |
|
Decreased corneal sensation, Abnormal posterior eye segment morphology, Abnormal corneal epitheli... |
ORPHA:67043 |
| Split-Hand/Foot Malformation 1 |
|
Triphalangeal thumb, Split hand, Foot oligodactyly, Clinodactyly, Syndactyly, Hand oligodactyly, ... |
OMIM:183600 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Lacrimal punctal atresia, Sparse eyebrow, Coloboma, Widow's peak, Abnormal ey... |
ORPHA:2399 |
| Corneal Dystrophy And Perceptive Deafness |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:217400 |
| Mulibrey Nanism |
|
Pigmentary retinopathy, Iris coloboma, Astigmatism, Single transverse palmar crease, Thickened co... |
OMIM:253250 |
| Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White forelock, Hypopi... |
ORPHA:895 |
| Classic Phenylketonuria |
|
Tremor, Hypopigmentation of hair, Hyperphenylalaninemia, Self-injurious behavior, Cataract, Motor... |
ORPHA:79254 |
| Spastic Paraparesis-Deafness Syndrome |
|
Cataract |
ORPHA:2815 |
| Oculocutaneous Albinism Type 4 |
|
Iris hypopigmentation, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, W... |
ORPHA:79435 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Squared iliac bones, Corneal opacity, Limb undergrowth, Coarse metaphyseal trabecularization, Sho... |
OMIM:618961 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Holoprosencephaly, Upslanted palpebral fissure, Acrania, Epicanthus, Syndactyly, Short palpebral ... |
OMIM:618820 |
| Syndactyly Type 4 |
|
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... |
ORPHA:93405 |
| Ectopia Lentis Et Pupillae |
|
Cataract, Persistent pupillary membrane, Ectopia lentis, Retinal detachment |
OMIM:225200 |
| Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Premature graying of hair, Abnormality of the optic nerve, Generalized ... |
ORPHA:33445 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Coloboma, Optic atrophy, Microphthalmia, Failure to thrive |
OMIM:274270 |
| Spinocerebellar Degeneration And Corneal Dystrophy |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:271310 |
| Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Abnormality of retinal pigmentation, Microphakia, Cataract, Retinal detachment, Lens subluxation,... |
ORPHA:171844 |
| Flynn-Aird Syndrome |
|
Dementia, Cataract, Alopecia of scalp, Alopecia, Rod-cone dystrophy |
OMIM:136300 |
| Crouzon Disease |
|
Melanocytic nevus, Iris coloboma, Conjunctivitis, Hypopigmented skin patches, Optic atrophy |
ORPHA:207 |
| Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Absent toenail, Palmoplantar blistering, Abnormal fingernail morphology, Ridged nail, Hyperpigmen... |
ORPHA:89838 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Rocker bottom foot, Blepharophimosis, Camptodactyly, Hirsutism, Second metatarsal posteriorly pla... |
OMIM:214150 |
| Gyrate Atrophy Of Choroid And Retina |
|
Abnormal macular morphology, Hyperornithinemia, Abnormal hair morphology, Chorioretinal atrophy, ... |
ORPHA:414 |
| Coloboma, Ocular, Autosomal Dominant |
|
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory a... |
OMIM:120200 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Hydrocephalus, Coloboma, Retinal dysplasia |
ORPHA:324416 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome |
|
Cataract, Hip dislocation |
OMIM:212540 |
| Split-Hand/Foot Malformation 6 |
|
Toe syndactyly, Finger syndactyly, Split hand, Foot oligodactyly, Split foot, Hand oligodactyly |
OMIM:225300 |
| Pierpont Syndrome |
|
Deep palmar crease, Short finger, High anterior hairline, Narrow palpebral fissure, Excessive wri... |
ORPHA:487825 |
| Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts |
|
Cataract |
OMIM:225740 |
| Curry-Jones Syndrome |
|
Cutaneous syndactyly of toes, Preaxial hand polydactyly, Broad thumb, Craniosynostosis, Coloboma,... |
OMIM:601707 |
| Acro-Renal-Ocular Syndrome |
|
Radial club hand, Coloboma, Optic disc coloboma, Broad hallux phalanx, Iris coloboma, Sandal gap,... |
ORPHA:959 |
| Aminopterin Syndrome Sine Aminopterin |
|
Highly arched eyebrow, Frontal bossing, Narrow palpebral fissure, Umbilical hernia, Decreased bod... |
OMIM:600325 |
| Cerebrooculonasal Syndrome |
|
Postaxial hand polydactyly, Upslanted palpebral fissure, Epicanthus, Sparse and thin eyebrow, Bra... |
ORPHA:66625 |
| Carpenter Syndrome |
|
Genu valgum, Postaxial hand polydactyly, Broad thumb, Toe syndactyly, Craniosynostosis, Finger sy... |
ORPHA:65759 |
| Joubert Syndrome 22 |
|
Postaxial hand polydactyly, Coloboma, 2-3 toe syndactyly, Retinal dysplasia, Microphthalmia, Post... |
OMIM:615665 |
| Brachymetapody-Anodontia-Hypotrichosis-Albinoidism |
|
Short metatarsal, Short phalanx of finger, Sparse hair, Absent pubic hair, Absent axillary hair, ... |
OMIM:211370 |
| Eem Syndrome |
|
Abnormality of retinal pigmentation, Finger syndactyly, Absent eyebrow, Sparse scalp hair, Sparse... |
ORPHA:1897 |
| Idiopathic Uveal Effusion Syndrome |
|
Exudative retinal detachment, Retinal fold, Subretinal fluid, Microphthalmia |
ORPHA:209956 |
| Autosomal Recessive Spastic Paraplegia Type 69 |
|
Cataract, Hand tremor |
ORPHA:401830 |
| Hartsfield Syndrome |
|
Craniosynostosis, Split hand, Aplasia/Hypoplasia of the radius, Ptosis, Telecanthus, Microphthalm... |
ORPHA:2117 |
| Senior-Loken Syndrome |
|
Cataract, Abnormality of retinal pigmentation, Cone-shaped epiphysis, Retinal dystrophy |
ORPHA:3156 |
| Bartsocas-Papas Syndrome 2 |
|
Axillary pterygium, Corneal opacity, Small hand, Cutaneous syndactyly between fingers 2 and 5, Ab... |
OMIM:619339 |
| Adams-Oliver Syndrome |
|
Absent hand, Calvarial skull defect, Split hand, Short distal phalanx of finger, Abnormality of t... |
ORPHA:974 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Short distal phalanx of toe, Short 1st metacarpal, Single transverse palmar crease, Short distal ... |
OMIM:601957 |
| Frontonasal Dysplasia 1 |
|
Pectoral muscle hypoplasia/aplasia, Postaxial hand polydactyly, Coloboma, Camptodactyly, Widow's ... |
OMIM:136760 |
| Bardet-Biedl Syndrome 4 |
|
Polydactyly, Retinal degeneration, Syndactyly, Brachydactyly, Rod-cone dystrophy, Obesity |
OMIM:615982 |
| Leber Congenital Amaurosis 8 |
|
Keratoconus, Choriocapillaris atrophy, Cataract |
OMIM:613835 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse hair, Curly hair, Corneal opacity, Sparse and thin eyebrow, Brittle hair, Pili torti |
OMIM:602400 |
| Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
| Leber Congenital Amaurosis 6 |
|
Attenuation of retinal blood vessels, Keratoconus, Cataract |
OMIM:613826 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Cataract, Irritability |
OMIM:617393 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hydrocephalus, Retinal coloboma, Microphthalmia, Rod-cone dystrophy, Obesity |
OMIM:601794 |
| Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Cataract, Microcornea, Rod-cone dystrophy |
OMIM:619082 |
| Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Cataract, Retinal detachment, Peripheral vitreoretinal degeneration, Lens subluxation |
OMIM:614292 |
| Bartsocas-Papas Syndrome |
|
Hypoplastic toenails, Toe syndactyly, Finger syndactyly, Corneal opacity, Alopecia totalis, Aplas... |
ORPHA:1234 |
| X-Linked Endothelial Corneal Dystrophy |
|
Band keratopathy, Corneal opacity, Nuclear cataract, Abnormal corneal endothelium morphology |
ORPHA:293621 |
| Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome |
|
Iris coloboma |
ORPHA:139450 |
| 15Q11Q13 Microduplication Syndrome |
|
Downslanted palpebral fissures, Clinodactyly of the 5th finger, Epicanthus, Finger syndactyly |
ORPHA:238446 |
| Albinism-Deafness Syndrome |
|
Partial albinism, Piebaldism, Albinism, Patchy hypo- and hyperpigmentation |
OMIM:300700 |
| Griscelli Syndrome Type 1 |
|
Iris hypopigmentation, Premature graying of hair, White hair, Partial albinism, Retinopathy, Hype... |
ORPHA:79476 |
| Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Short proximal phalanx of thumb, Short middle phalanx of finger, Short proximal phalanx of hallux... |
OMIM:251190 |
| Cherubism |
|
Marcus Gunn pupil, Macular scar, Optic neuropathy |
OMIM:118400 |
| Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Uveal ectropion, Corneal opacity, Ectopia pupillae, Corneal stromal ... |
ORPHA:98973 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Intrauterine growth retardation, Talipes equinovarus, Microphthalmia, Rocker bottom foot |
OMIM:616570 |
| Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Cone-shaped epiphyses of the phalanges of the hand, Cataract, Small hand, Talipes equinovarus, Sh... |
ORPHA:85172 |
| Warburg Micro Syndrome 1 |
|
Developmental cataract, Overlapping toe, Facial hypertrichosis, Ptosis, Hypertrichosis, Microphth... |
OMIM:600118 |
| Brachydactyly, Type B2 |
|
Aplasia/Hypoplasia of the middle phalanges of the hand, Cutaneous syndactyly of toes, Tarsal syno... |
OMIM:611377 |
| Greig Cephalopolysyndactyly Syndrome |
|
Postaxial hand polydactyly, Broad thumb, Preaxial hand polydactyly, Toe syndactyly, Finger syndac... |
ORPHA:380 |
| Microphthalmia With Limb Anomalies |
|
Tarsal synostosis, Broad thumb, Elbow dislocation, Bilateral single transverse palmar creases, Ab... |
ORPHA:1106 |
| Oculocutaneous Albinism Type 1 |
|
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, Abnormal morphology o... |
ORPHA:352731 |
| Kapur-Toriello Syndrome |
|
Overlapping fingers, Camptodactyly of finger, Retinal coloboma, Iris coloboma, Bilateral single t... |
OMIM:244300 |
| Joint Laxity, Short Stature, And Myopia |
|
Chorioretinal coloboma, Talipes equinovarus, Iris coloboma, Retinal detachment |
OMIM:617662 |
| Mucolipidosis Iii Alpha/Beta |
|
Irregular carpal bones, Split hand, Carpal bone hypoplasia, Retinal degeneration, Increased serum... |
OMIM:252600 |
| Developmental And Epileptic Encephalopathy 35 |
|
Cataract, Irritability, Limb tremor |
OMIM:616647 |
| Lissencephaly 8 |
|
Talipes equinovarus, Cataract, Optic atrophy, Elevated circulating creatine kinase concentration |
OMIM:617255 |
| Clouston Syndrome |
|
Small nail, Onycholysis, Sparse eyelashes, Absent pubic hair, Absent axillary hair, Slow-growing ... |
OMIM:129500 |
| Craniodigital-Intellectual Disability Syndrome |
|
Thick hair, Finger syndactyly, Long eyelashes, Thick eyebrow, Brachycephaly, Spina bifida occulta... |
ORPHA:1514 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Microphthalmia, Anophthalmia |
OMIM:221950 |
| Familial pterygium of the conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
| Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Radioulnar synostosis, Bowing of the long bones, Sandal gap, Cataract, Abnormal hip bone morpholo... |
ORPHA:2725 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Mitten deformity, Widely spaced toes, Anonychia, Absent fingernail, Sandal gap, Alopecia totalis,... |
OMIM:609638 |
| Filippi Syndrome |
|
Sparse hair, Finger clinodactyly, Decreased body weight, Hypertrichosis, Frontal hirsutism, 2-4 t... |
OMIM:272440 |
| Cofs Syndrome |
|
Camptodactyly of finger, Abnormality of retinal pigmentation, Cataract, Microphthalmia, Intrauter... |
ORPHA:1466 |
| Focal Dermal Hypoplasia |
|
Abnormality of skin pigmentation, Abnormal palmar dermatoglyphics, Camptodactyly of finger, Chori... |
ORPHA:2092 |
| Distal Monosomy 13Q |
|
Iris coloboma, Abnormality of the metacarpal bones, Aplasia/Hypoplasia of the thumb, Optic atroph... |
ORPHA:1590 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Low anterior hairline, Long eyelashes, Synophrys, Thick eyebrow, Anophthalmia, Telecanthus |
ORPHA:411986 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Macular atrophy, Cystoid macular degeneration, Microphthalmia, Retinal degeneration |
OMIM:267760 |
| Microphthalmia, Isolated 3 |
|
Ankyloblepharon, Microphthalmia, Sclerocornea, Anophthalmia |
OMIM:611038 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation |
|
Cataract, Ptosis, Microphthalmia, Coloboma |
OMIM:120433 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
4-5 finger syndactyly, Persistent pupillary membrane, Large fontanelles, Frontal bossing, Downsla... |
OMIM:257850 |
| Split-Hand/Foot Malformation 2 |
|
Short phalanx of finger, Finger syndactyly, Split hand, Split foot, Short metacarpal |
OMIM:313350 |
| Bresek Syndrome |
|
Postaxial hand polydactyly, Iris coloboma, Alopecia, Optic nerve hypoplasia |
ORPHA:85284 |
| Sandestig-Stefanova Syndrome |
|
Rocker bottom foot, Highly arched eyebrow, Developmental cataract, Camptodactyly, Sparse medial e... |
OMIM:618804 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... |
OMIM:228930 |
| Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Ectopia lentis, Microspherophakia, Deep anterior chamber, Iridodonesis, Megalocornea |
OMIM:251750 |
| Chromosome 2Q31.1 Duplication Syndrome |
|
Cutaneous syndactyly, Talipes equinovarus |
OMIM:613681 |
| Sclerosteosis |
|
2-3 finger syndactyly, Finger syndactyly, Fingernail dysplasia, Curved distal phalanges of the ha... |
ORPHA:3152 |
| Cousin Syndrome |
|
Camptodactyly, Hypoplastic ischia, Wrist flexion contracture, Hydrocephalus, Dislocated radial he... |
OMIM:260660 |
| Ehlers-Danlos Syndrome, Beasley-Cohen Type |
|
Cataract, Hip dislocation |
OMIM:608763 |
| Piebaldism |
|
Hypopigmentation of hair, Heterochromia iridis, White eyebrow, Synophrys, White eyelashes, White ... |
ORPHA:2884 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Uveal ectropion, Corneal opacity, Ectopia pupillae, Iris atrophy, Polymorphous posterior corneal ... |
OMIM:122000 |
| Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the hallux, Symphalangism affecting the phalanges of the hallux, 3-4 finger... |
OMIM:609432 |
| Stickler Syndrome, Type Ii |
|
Abnormal vitreous humor morphology, Cataract, Retinal detachment, Arachnodactyly, Long fingers |
OMIM:604841 |
| Coloboma, Ocular, Autosomal Recessive |
|
Retinal coloboma, Cataract, Iris coloboma, Lens subluxation |
OMIM:216820 |
| Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
| Isolated Aniridia |
|
Aniridia, Peters anomaly, Cataract, Aplasia/Hypoplasia of the macula |
ORPHA:250923 |
| Nevus Comedonicus Syndrome |
|
Toe syndactyly, Abnormal hair morphology, Finger syndactyly, Preaxial polydactyly, Cataract |
ORPHA:64754 |
| Frontofacionasal Dysplasia |
|
Brushfield spots, Iris coloboma, Cataract, Microcornea, Aplasia/Hypoplasia of the eyebrow, Absent... |
ORPHA:1791 |
| Leber Congenital Amaurosis 16 |
|
Cataract, Optic disc pallor |
OMIM:614186 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Generalized hyperpigmentation, Hypopigmentation of hair |
ORPHA:1355 |
| Branchio-Oculo-Facial Syndrome |
|
Preaxial hand polydactyly, Coloboma, Premature graying of hair, Iris coloboma, Fingernail dysplas... |
ORPHA:1297 |
| Foveal Hypoplasia 2 |
|
Foveal hyperpigmentation, Hypoplasia of the fovea, Optic nerve misrouting, Microphthalmia |
OMIM:609218 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones |
OMIM:600384 |
| Waardenburg Syndrome, Type 4A |
|
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... |
OMIM:277580 |
| Short Syndrome |
|
Sparse hair, Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Megalocornea, Alopec... |
ORPHA:3163 |
| Anterior Segment Dysgenesis 2 |
|
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Coloboma, Cataract, Peters anomaly... |
OMIM:610256 |
| Leber Congenital Amaurosis |
|
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormality of the optic disc |
ORPHA:65 |
| Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
| 3Q29 Microduplication Syndrome |
|
Aniridia, Toe syndactyly, Camptodactyly of toe, Iris coloboma, Sandal gap, Cataract, Sclerocornea |
ORPHA:251038 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Upper eyelid coloboma, Widow's peak, Lower eyelid coloboma, Ectopic lacrimal ... |
OMIM:167730 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract, Micromelia |
OMIM:273680 |
| Retinal Dystrophy And Obesity |
|
Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal detachment, Astigmatism, Peripapil... |
OMIM:616188 |
| Congenital Hydrocephalus |
|
Optic atrophy, Iris coloboma |
ORPHA:2185 |
| Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Clinodactyly, Iris coloboma, Ectrodactyly |
OMIM:147950 |
| Walker-Warburg Syndrome |
|
Chorioretinal dysplasia, Anophthalmia, Iris coloboma, Retinal dystrophy, Abnormality of the optic... |
ORPHA:899 |
| Raindrop Hypopigmentation |
|
Hypopigmentation of the skin |
OMIM:179500 |
| Manitoba Oculotrichoanal Syndrome |
|
Abnormal hair morphology, Anophthalmia, Nasolacrimal duct obstruction, Microphthalmia, Eyelid col... |
OMIM:248450 |
| Mucolipidosis Type Iv |
|
Abnormality of retinal pigmentation, Retinopathy, Corneal opacity, Palmoplantar keratoderma |
ORPHA:578 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Camptodactyly of finger, Aniridia, Corneal dystrophy, Mitral regurgitation, Anophthalmia, Umbilic... |
ORPHA:1101 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Cataract, Epiphyseal stippling |
OMIM:614876 |
| Polydactyly, Preaxial Iv |
|
Preaxial polydactyly, 3-4 finger syndactyly, Dysplastic distal thumb phalanges with a central hol... |
OMIM:174700 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short 3rd metacarpal, Short toe, Broad thumb, Hypoplastic toenails, Short 5th metacarpal, 3-4 fin... |
ORPHA:370010 |
| Uncombable Hair Syndrome |
|
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair |
ORPHA:1410 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Cognitive impairment, Cataract |
OMIM:615418 |
| Oculocutaneous Albinism Type 2 |
|
Iris hypopigmentation, Abnormality of retinal pigmentation, Freckling, Hypopigmentation of hair, ... |
ORPHA:79432 |
| Craniosynostosis And Dental Anomalies |
|
Craniosynostosis, Short phalanx of finger, Lambdoidal craniosynostosis, Sagittal craniosynostosis... |
OMIM:614188 |
| Trisomy 1Q |
|
Camptodactyly of finger, Preaxial hand polydactyly, Toe syndactyly, Hypoplastic toenails, Frontal... |
ORPHA:261344 |
| Brachydactyly-Syndactyly, Zhao Type |
|
Short fifth metatarsal, Toe syndactyly, Short middle phalanx of the 2nd finger, Short 5th metacar... |
ORPHA:93409 |
| Wt Limb-Blood Syndrome |
|
Irregular hyperpigmentation, Short phalanx of finger, Radioulnar synostosis, Joint contracture of... |
OMIM:194350 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Hypoplastic toenails, Small nail, Coarse hair, Absent facial hair, Palmar hyperkeratosis, Sparse ... |
OMIM:613573 |
| X-Linked Recessive Ocular Albinism |
|
Iris hypopigmentation, Abnormal macular morphology, Freckling, Giant melanosomes in melanocytes, ... |
ORPHA:54 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract, Hyperbilirubinemia |
OMIM:618660 |
| 2Q31.1 Microdeletion Syndrome |
|
Abnormality of tibia morphology, Coloboma, Optic disc coloboma, Broad hallux phalanx, Iris colobo... |
ORPHA:251014 |
| Incontinentia Pigmenti |
|
Abnormality of skin pigmentation, Absent hand, Irregular hyperpigmentation, Ridged fingernail, Co... |
ORPHA:464 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Large fontanelles, Abnormality of epiphysis morphology, Frontal bossing, Rhizomelia, Platybasia, ... |
ORPHA:93267 |
| Heart-Hand Syndrome, Slovenian Type |
|
Clinodactyly, Syndactyly, Brachydactyly, Aplasia of the middle phalanx of the hand |
OMIM:610140 |
| Achondrogenesis Type 2 |
|
Delayed pubic bone ossification, Delayed proximal femoral epiphyseal ossification, Abnormal vitre... |
ORPHA:93296 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Syndactyly, 2-4 toe syndactyly |
OMIM:241000 |
| Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
| Congenital Varicella Syndrome |
|
Cataract, Micromelia |
ORPHA:291 |
| Congenital Sialidosis Type 2 |
|
Developmental cataract, Polydactyly, Yellow/white lesions of the retina, Corneal opacity, General... |
ORPHA:93400 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Abnormal femoral neck/head morphology, Hemiatrophy of upper limb, Wide anterior fontanel, Frontal... |
ORPHA:163649 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Iris coloboma, Ocular anterior segment dysgenesis, Microcornea, Retinal detachment, Sclerocornea |
OMIM:615145 |
| Developmental And Epileptic Encephalopathy 73 |
|
