Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Iris coloboma, Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, Chorioretinal col... |
OMIM:601706 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Osteopathia striata, Abnormal metaphysis morphology, Abnormal diaphysis morphology, Coarse metaph... |
ORPHA:2779 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Chorioretinal coloboma, Short thumb |
OMIM:274205 |
Loose Anagen Syndrome |
|
Abnormal hair morphology, Abnormal hair whorl, Iris coloboma |
ORPHA:168 |
Hypomelanosis Of Ito |
|
Cataract, Hand polydactyly, Macular hypopigmented whorls, streaks, and patches, Iris coloboma, Sy... |
OMIM:300337 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Iris coloboma, Syndactyly, Brachydactyly, Coloboma, Clinodactyly, Peters anomaly, Ocular anterior... |
OMIM:610023 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract, Rod-cone dystrophy, Abnormality of skin pigmentation |
OMIM:300719 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract, Optic atrophy, Generalized hyperpigmentation |
ORPHA:2253 |
Synpolydactyly 1 |
|
Postaxial foot polydactyly, 2nd-5th toe middle phalangeal hypoplasia, 3-4 finger syndactyly, Y-sh... |
OMIM:186000 |
Tietz Syndrome |
|
Abnormal anterior chamber morphology, Hypopigmentation of the skin, Hypopigmentation of hair, Whi... |
ORPHA:42665 |
Winchester Syndrome |
|
Broad metacarpals, Carpal osteolysis, Hirsutism, Corneal opacity, Osteolysis involving tarsal bones |
OMIM:277950 |
Polydactyly, Preaxial Ii |
|
Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Preaxial foot polydactyly,... |
OMIM:174500 |
Cataract-Microcornea Syndrome |
|
Cataract, Iris coloboma, Corneal dystrophy, Corneal opacity, Microcornea |
ORPHA:1377 |
Syndactyly Type 2 |
|
Postaxial foot polydactyly, Camptodactyly of finger, 3-4 finger syndactyly, Mesoaxial polydactyly... |
ORPHA:93403 |
Dermochondrocorneal Dystrophy |
|
Large hands, Abnormality of the hand, Corneal dystrophy |
ORPHA:79149 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Bilateral microphthalmos, Iris coloboma, Holoprosencephaly, Microphthalmia, Chorioretinal colobom... |
OMIM:611638 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Curry-Jones Syndrome |
|
Iris coloboma, Hypopigmented skin patches, Finger syndactyly, Toe syndactyly, Broad thumb, Abnorm... |
ORPHA:1553 |
Cataract 21, Multiple Types |
|
Cerulean cataract, Cortical pulverulent cataract, Peters anomaly, Iris coloboma, Retinal detachme... |
OMIM:610202 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Iris coloboma, Microphthalmia, Chorioretinal coloboma, Optic pit, Anophthalmia |
OMIM:616428 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Galactosialidosis |
|
Cherry red spot of the macula, Corneal opacity |
ORPHA:351 |
Bardet-Biedl Syndrome 18 |
|
Brachydactyly, Cataract, Rod-cone dystrophy, Retinal dystrophy |
OMIM:615995 |
Stickler Syndrome Type 2 |
|
Cataract, Retinal detachment, Abnormal vitreous humor morphology, Corneal opacity, Retinopathy |
ORPHA:90654 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Band keratopathy, Corneal opacity, Corneal dystrophy |
OMIM:300779 |
Camptosynpolydactyly, Complex |
|
Toenail dysplasia, Camptodactyly, Nail dysplasia, Polydactyly, Syndactyly, Cutaneous syndactyly, ... |
OMIM:607539 |
Polydactyly, Postaxial, Type A1 |
|
Postaxial foot polydactyly, Syndactyly, Preaxial foot polydactyly, Broad thumb, Postaxial hand po... |
OMIM:174200 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, Melanin pigment aggregation in hair shafts, Large clu... |
OMIM:214450 |
Terminal Osseous Dysplasia |
|
Camptodactyly of toe, Camptodactyly of finger, Iris coloboma, Syndactyly, Short toe, Abnormal han... |
OMIM:300244 |
X-Linked Retinoschisis |
|
Cataract, Retinoschisis |
ORPHA:792 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Short distal phalanx of hallux, Small thenar eminence, Aplasia/Hypoplasia of the distal phalanx o... |
ORPHA:3246 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia |
|
Developmental cataract, Increased LDL cholesterol concentration, Aggressive behavior, Fair hair |
OMIM:618808 |
Woolly Hair |
|
Cataract, Sparse body hair, Abnormal retinal morphology, Fine hair, Abnormal pupil morphology, Br... |
ORPHA:170 |
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 |
Waardenburg Syndrome, Type 2F |
|
Blue irides, Hypermelanotic macule, Premature graying of hair, Cafe-au-lait spot, White hair, Hyp... |
OMIM:619947 |
Optic Atrophy 3, Autosomal Dominant |
|
Cataract, Optic atrophy, Optic disc pallor, Tremor |
OMIM:165300 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Alopecia, Persistent pupillary membrane, Hypopigmentation of hair, Corneal opacity, Apl... |
ORPHA:1067 |
Syndactyly, Type Iii |
|
4-5 finger syndactyly, Short 5th finger, Syndactyly, Absent middle phalanx of 5th finger |
OMIM:186100 |
Cone-Rod Dystrophy 16 |
|
Cataract, Beaten bronze macular sheen, Macular atrophy, Cone/cone-rod dystrophy, Postaxial polyda... |
OMIM:614500 |
Dilution, Pigmentary |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation |
OMIM:126070 |
Syndactyly Type 1 |
|
Toe syndactyly, Finger syndactyly, Symphalangism affecting the phalanges of the hand |
ORPHA:93402 |
Megalocornea |
|
Cataract, Megalocornea, Astigmatism, Mosaic corneal dystrophy, Retinal detachment, Iridodonesis, ... |
OMIM:309300 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Iris coloboma, Retinal detachment, Posterior embryotoxon, Chorioretinal coloboma, Corne... |
ORPHA:1473 |
Griscelli Syndrome, Type 3 |
|
White eyelashes, Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair |
OMIM:609227 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Iris cyst, Hypoplasia of the fovea, Optic atrophy |
OMIM:620086 |
Albinism, Oculocutaneous, Type Iv |
|
Blue irides, Hypopigmentation of the fundus, Albinism, Hypopigmentation of hair, Macular hypoplasia |
OMIM:606574 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
Abruzzo-Erickson Syndrome |
|
Ulnar deviation of finger, Iris coloboma, Toe syndactyly, Short toe, Radioulnar synostosis, Chori... |
ORPHA:921 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Red hair, Albinism |
OMIM:203290 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Camptodactyly of finger, Onychogryposis of fingernail, Short thumb, Hypopigmented skin patches, F... |
ORPHA:2251 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Camptodactyly, Iris coloboma, Osteolysis involving bones of the lower limbs, Syndactyly, Alopecia... |
ORPHA:88630 |
Uncombable Hair Syndrome 2 |
|
Juvenile cataract, Pili canaliculi, Uncombable hair |
OMIM:617251 |
Foveal Hypoplasia 1 |
|
Presenile cataracts, Hypoplasia of the fovea |
OMIM:136520 |
Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Ectopia lentis, Corneal opacity |
OMIM:613086 |
2Q24 Microdeletion Syndrome |
|
Cataract, Camptodactyly of finger, Bullet-shaped distal phalanx of the hallux, Long fingers, Toe ... |
ORPHA:1617 |
Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Abnormal hip bone morphology, Finger syndactyly, Abnormality of the upper limb, Bilateral single ... |
ORPHA:1891 |
Cataract 9, Multiple Types |
|
Cataract, Iris coloboma, Developmental cataract, Progressive cataract, Microcornea |
OMIM:604219 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Retinal atrophy, Cone/cone-rod dystrophy, Metaphyseal irregularity, Bowing of the legs, Short pha... |
ORPHA:85167 |
Wagner Vitreoretinopathy |
|
Cataract, Optically empty vitreous, Vitreoretinopathy, Peripheral tractional retinal detachment, ... |
OMIM:143200 |
Acute Zonal Occult Outer Retinopathy |
|
Abnormal fundus fluorescein angiography, Macular drusen, Abnormal retinal vascular morphology, Pi... |
ORPHA:284454 |
Microphthalmia With Limb Anomalies |
|
Hip dislocation, Metatarsal synostosis, Short palpebral fissure, Toe syndactyly, Single transvers... |
OMIM:206920 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Gombo Syndrome |
|
Clinodactyly, Brachydactyly, Microphthalmia, Radial deviation of finger |
OMIM:233270 |
Erythrokeratodermia Variabilis |
|
Cataract, Irregular hyperpigmentation, Hypermelanotic macule, Abnormality of the nail, Patchy pal... |
ORPHA:317 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Hip dysplasia, Abnormal metaphysis morphology, Abnormal metacarpal morphology, Clinodactyly of th... |
ORPHA:2370 |
Hallux Varus And Preaxial Polysyndactyly |
|
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly |
OMIM:234280 |
Oculocerebrocutaneous Syndrome |
|
Orbital encephalocele, Congenital hip dislocation, Eyelid coloboma, Alopecia, Microphthalmia, Orb... |
OMIM:164180 |
Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Hypopigmentation of the skin, Short distal phalanx of finger, Iris hypopigmentation, Aplasia/Hypo... |
ORPHA:2513 |
Corneal Dystrophy, Groenouw Type I |
|
Cataract, Granular corneal dystrophy, Punctate corneal dystrophy, Nodular corneal dystrophy |
OMIM:121900 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Cataract, Hand monodactyly, Retinopathy, Split hand, Split foot |
OMIM:183800 |
Macular Dystrophy, Corneal |
|
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea, Macular dyst... |
OMIM:217800 |
Birdshot Chorioretinopathy |
|
Cataract, Vitreous floaters, Abnormal retinal vascular morphology, Epiretinal membrane, Retinal d... |
ORPHA:179 |
Syndactyly, Type Iv |
|
Polydactyly, Postaxial polydactyly, 1-5 finger complete cutaneous syndactyly, Supernumerary metac... |
OMIM:186200 |
Retinitis Pigmentosa 40 |
|
Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo... |
OMIM:613801 |
Oculocutaneous Albinism |
|
Iris hypopigmentation, Iris coloboma, Generalized hypopigmentation, Generalized hypopigmentation ... |
ORPHA:55 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Inferior chorioretinal coloboma, Iris coloboma |
OMIM:614497 |
Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
Congenital Radioulnar Synostosis |
|
Congenital hip dislocation, Limited pronation/supination of forearm, Polydactyly, Dislocated radi... |
ORPHA:3269 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Freckling, Iris hypopigmentation, Iris coloboma, Hypopigmented skin patches, Multiple cafe-au-lai... |
ORPHA:3214 |
Trichomegaly |
|
Cataract, Long eyelashes |
OMIM:190330 |
Nanophthalmos |
|
Abnormal choroid morphology, Microphthalmia, Abnormality of retinal pigmentation |
ORPHA:35612 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity |
ORPHA:2432 |
Coats Disease |
|
Cataract, Abnormal macular morphology, Abnormal retinal vascular morphology, Retinal detachment, ... |
ORPHA:190 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Norrie Disease |
|
Cataract, Retinal detachment, Dementia, Optic atrophy, Buphthalmos, Shallow anterior chamber, Hyp... |
OMIM:310600 |
Spastic Paraparesis And Deafness |
|
Cataract, Tremor |
OMIM:312910 |
Hidrotic Ectodermal Dysplasia |
|
Anonychia, Abnormal metacarpophalangeal joint morphology, Sparse eyebrow, Nail dystrophy, Brittle... |
ORPHA:189 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Sparse body hair, Diffuse palmoplantar hyperkeratosis, Alopecia, Dystrophic toenail, Hypopigmenta... |
OMIM:617294 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
Mucolipidosis Iv |
|
Progressive neurologic deterioration, Retinal degeneration, Corneal opacity, Opacification of the... |
OMIM:252650 |
Leg, Absence Deformity Of, With Congenital Cataract |
|
Developmental cataract, Optic nerve dysplasia, Progressive cataract, Duplication involving bones ... |
OMIM:246000 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Retinal detachment, Persistent pupillary membrane |
OMIM:620253 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microcornea, Orbital cyst, Microphthalmia, Coloboma |
OMIM:251505 |
Microphthalmia With Brain And Digit Anomalies |
|
Cataract, Postaxial foot polydactyly, Nail dysplasia, Iris coloboma, Proximal placement of thumb,... |
ORPHA:139471 |
Humero-Radial Synostosis |
|
Elbow ankylosis, Iris coloboma, Abnormality of the wrist, Aplasia/Hypoplasia of the thumb, Chorio... |
ORPHA:3265 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Linear Verrucous Nevus Syndrome |
|
Cataract, Iris coloboma, Short metacarpal, Toe syndactyly, Abnormal cornea morphology, Sparse sca... |
ORPHA:2611 |
Laurence-Moon Syndrome |
|
Cataract, Hand polydactyly, Iris coloboma, Finger syndactyly, Bilateral single transverse palmar ... |
ORPHA:2377 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cataract, Short metacarpal, Chorioretinal coloboma, Short thumb |
ORPHA:2489 |
Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris transillumination defect, Chorioreti... |
OMIM:619165 |
Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia pupillae, Ectopia lentis, Iridodonesis, Microphakia, Persistent pupillary membr... |
OMIM:617319 |
Hereditary Bullous Dystrophy, Macular Type |
|
Short finger, Cataract, Spotty hypopigmentation, Congenital abnormal hair pattern, Alopecia, Tape... |
ORPHA:1867 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Ankyloblepharon, Anophthalmia, Microphthalmia |
ORPHA:85275 |
Gómez-López-Hernández Syndrome |
|
Alopecia of scalp, Cognitive impairment, Toenail dysplasia, Corneal opacity |
ORPHA:1532 |
Leber Congenital Amaurosis 2 |
|
Cataract, Eye poking, Pigmentary retinopathy, Optic disc pallor, Fundus atrophy, Keratoconus, Att... |
OMIM:204100 |
Retinitis Pigmentosa 9 |
|
Cataract, Macular atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular e... |
OMIM:180104 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia, Retinal degeneration |
OMIM:251700 |
Obsolete: Isolated Optic Nerve Hypoplasia/Aplasia |
|
Optic disc hypoplasia, Peripheral vitreous opacities, Optic nerve hypoplasia, Chorioretinal colob... |
ORPHA:137902 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Chorioretinal dysplasia, Microphthalmia |
OMIM:616335 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Microphthalmia, Abnormality of retinal pigmentation |
ORPHA:1574 |
Syndactyly Type 5 |
|
Short distal phalanx of finger, Camptodactyly of finger, 3-4 finger syndactyly, Ulnar deviation o... |
ORPHA:93406 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Cataract, Coxa valga, Asteroid hyalosis, Retinal thinning, Genu valgum, Epiphyseal dysplasia, Sho... |
OMIM:132450 |
Galactosemia Iv |
|
Cataract, Hypergalactosemia |
OMIM:618881 |
Ophthalmomandibulomelic Dysplasia |
|
Elbow dislocation, Camptodactyly of finger, Megalocornea, Synostosis of carpal bones, Radioulnar ... |
ORPHA:2741 |
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
1-4 finger syndactyly, Camptodactyly, 2-3 finger syndactyly, 3-4 finger syndactyly, Sparse eyebro... |
OMIM:225280 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Iris coloboma, Chorioretinal coloboma, Posterior lenticonus, Remnants of the hyaloid vascular sys... |
ORPHA:231736 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Iris hypopigmentation, Narrow palm, Hypopigmentation of the skin, Hypopigmentation of hair, Small... |
ORPHA:177910 |
Pupillary Membrane, Persistence Of |
|
Megalocornea, Developmental cataract, Persistent pupillary membrane |
OMIM:178900 |
Triple A Syndrome |
|
Iris coloboma, Abnormality of the hypothenar eminence, Palmoplantar keratoderma, Optic atrophy, G... |
ORPHA:869 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Chorioretinal coloboma, Iris coloboma |
OMIM:120433 |
Albinism-Deafness Syndrome |
|
Irregular hyperpigmentation, Piebaldism, Hypopigmented skin patches, Partial albinism, Heterochro... |
ORPHA:998 |
Temtamy Syndrome |
|
Iris coloboma, Genu varum, Brachydactyly, Short toe, Chorioretinal coloboma, Clinodactyly of the ... |
ORPHA:1777 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia, Coloboma |
OMIM:613703 |
Retinitis Pigmentosa 84 |
|
Cataract, Macular atrophy, Macular coloboma, Bone spicule pigmentation of the retina, Attenuation... |
OMIM:618220 |
Tietz Albinism-Deafness Syndrome |
|
Blue irides, Generalized hypopigmentation, White eyelashes, White eyebrow, Heterochromia iridis |
OMIM:103500 |
Leber Congenital Amaurosis 1 |
|
Cataract, Eye poking, Pigmentary retinopathy, Hyperthreoninemia, Fundus atrophy, Hyperthreoninuri... |
OMIM:204000 |
Wahab Syndrome |
|
Camptodactyly, Short thumb, Short metacarpal, Syndactyly, Adducted thumb, Short palm, Clinodactyl... |
OMIM:615170 |
Adams-Oliver Syndrome 4 |
|
Toenail dysplasia, Hypoplastic toenails, Umbilical hernia, Microphthalmia, Aplasia of the middle ... |
OMIM:615297 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Chorioretinal coloboma, Iris coloboma, Retinal coloboma, Preaxial polydactyly |
ORPHA:2921 |
Mucolipidosis Type Iii |
|
Hypoplastic inferior ilia, Cognitive impairment, Abnormal hip bone morphology, Large iliac wing, ... |
ORPHA:577 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Cataract, Decreased movement range in interphalangeal joints, Shoulder girdle muscle weakness, El... |
OMIM:609115 |
Vogt-Koyanagi-Harada Disease |
|
Cataract, Abnormal eyelash morphology, Vitiligo, Abnormal eyebrow morphology, Hypopigmented skin ... |
ORPHA:3437 |
Deafness, Autosomal Recessive 108 |
|
Iris coloboma |
OMIM:617654 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Cataract, Corneal arcus, Decreased HDL cholesterol concentration |
OMIM:618463 |
Peroxisome Biogenesis Disorder 10A (Zellweger) |
|
Cataract, Epiphyseal stippling |
OMIM:614882 |
Bardet-Biedl Syndrome 5 |
|
Polydactyly, Obesity, Syndactyly, Macular dystrophy, Rod-cone dystrophy, Brachydactyly |
OMIM:615983 |
Oculocerebrocutaneous Syndrome |
|
Short distal phalanx of finger, Hand polydactyly, Congenital hip dislocation, Iris coloboma, Hypo... |
ORPHA:1647 |
Leber Congenital Amaurosis 8 |
|
Cataract, Eye poking, Pigmentary retinopathy, Macular coloboma, Keratoconus, Choriocapillaris atr... |
OMIM:613835 |
Waardenburg Syndrome, Type 2B |
|
White forelock, Premature graying of hair, Heterochromia iridis |
OMIM:600193 |
Mietens Syndrome |
|
Cataract, Elbow ankylosis, Hip dislocation, Hip dysplasia, Abnormality of fibula morphology, Avas... |
ORPHA:2557 |
Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Abnormality of the hand, Abnormality of retinal pigmentation, Juvenile cataract,... |
ORPHA:1264 |
Retinitis Pigmentosa 4 |
|
Cataract, Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Atten... |
OMIM:613731 |
Microphthalmia, Isolated 8 |
|
Retinal detachment, Microphthalmia, Retinal coloboma, Optic nerve hypoplasia, True anophthalmia, ... |
OMIM:615113 |
Woolly Hair Nevus |
|
Woolly scalp hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Curl... |
ORPHA:79414 |
Polydactyly, Postaxial, Type A5 |
|
Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis |
OMIM:263450 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Postaxial hand polydactyly, Syndactyly, Hydrocephalus |
OMIM:615938 |
Galactosemia Ii |
|
Cataract, Hypergalactosemia |
OMIM:230200 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Radioulnar synostosis, Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finger |
ORPHA:71289 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Cataract, Congenital bilateral hip dislocation, Hirsutism, Talipes equinovarus |
ORPHA:85288 |
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the distal phalanx of the 2nd toe, 1-2 toe complete cutaneous syndactyly, A... |
ORPHA:488232 |
Microphthalmia, Syndromic 13 |
|
Microcornea, Chorioretinal coloboma, Iris coloboma |
OMIM:300915 |
Autosomal Dominant Keratitis |
|
Cataract, Hypoplasia of the fovea, Hypoplastic iris stroma, Limbal stem cell deficiency, Abnormal... |
ORPHA:2334 |
Ermine Phenotype |
|
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Astigmatism, Toe ... |
ORPHA:999 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Fingernail dysplasia, Ectopia lentis, Iris coloboma, Abnormality of retinal pigmentation |
ORPHA:1259 |
Anencephaly 2 |
|
Anophthalmia, Short palpebral fissure, Anencephaly |
OMIM:619452 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Iris coloboma, Buphthalmos, Anterior synechiae of the anterior chamber, Sclerocornea, C... |
OMIM:269400 |
Corneal Dystrophy, Epithelial Basement Membrane |
|
Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy, Corneal dystrophy |
OMIM:121820 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity |
ORPHA:1980 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Cataract, Anxiety, Macular degeneration, Dementia, Retinal degeneration, Psychomotor deterioratio... |
OMIM:204200 |
Anophthalmia Plus Syndrome |
|
Deviation of finger, Iris coloboma, Spina bifida, Eyelid coloboma, Blepharophimosis, Anophthalmia |
ORPHA:1104 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Synophrys, Finger syndactyly, Abnormality of the elbow, Thick eyebrow, Radioulnar synostosis, Cli... |
ORPHA:3268 |
Brachydactyly Type A7 |
|
Medially deviated second toe, Broad distal phalanx of the thumb, Hallux valgus, Short middle phal... |
ORPHA:93397 |
Oculofaciocardiodental Syndrome |
|
Cataract, Ectopia lentis, Iris coloboma, Short thumb, Retinal detachment, Flexion contracture of ... |
ORPHA:2712 |
Morm Syndrome |
|
Retinal dystrophy, Cataract, Aggressive behavior, Retinal atrophy |
ORPHA:75858 |
Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Short toe, Syndactyly |
OMIM:614341 |
Pelvis-Shoulder Dysplasia |
|
Hypoplastic ilia, Congenital hip dislocation, Iris coloboma, Hypoplastic acetabulae, Hypoplastic ... |
OMIM:169550 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Cataract, Vitreous floaters, Peripheral vitreoretinal degeneration, Retinal detachment, Lattice r... |
OMIM:614292 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type |
|
Cataract, Abnormal hand morphology, Short foot, Small hand |
OMIM:300261 |
Bardet-Biedl Syndrome 9 |
|
Cataract, Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Astigmatism, Syndactyly... |
OMIM:615986 |
Distal Duplication 18Q |
|
Deviation of finger, Camptodactyly of finger, Iris coloboma, Arachnodactyly, Large hands, Bilater... |
ORPHA:1716 |
Scheie Syndrome |
|
Corneal opacity, Genu valgum, Retinal degeneration |
OMIM:607016 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Albinism |
OMIM:606952 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Type E brachydactyly, Limited elbow extension, Cataract, Hip dysplasia, Abnormal hip joint morpho... |
ORPHA:1856 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Chorioretinal dysplasia, Retinal detachment, Optic disc pallor, Microphthalmia, Abnormality of re... |
OMIM:251270 |
Brachydactyly, Type A2 |
|
Medially deviated second toe, Hallux valgus, Aplasia/Hypoplasia of the middle phalanx of the 2nd ... |
OMIM:112600 |
Monilethrix |
|
Cataract, Patchy alopecia, Abnormal eyelash morphology, Abnormal eyebrow morphology, Cognitive im... |
ORPHA:573 |
Frontonasal Dysplasia 1 |
|
Cataract, Camptodactyly, Epicanthus, Widow's peak, Anterior basal encephalocele, Microphthalmia, ... |
OMIM:136760 |
Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract |
OMIM:156850 |
Thiel-Behnke Corneal Dystrophy |
|
Central corneal dystrophy, Subepithelial corneal opacities, Recurrent corneal erosions, Astigmati... |
ORPHA:98960 |
Osteoporosis-Pseudoglioma Syndrome |
|
Metaphyseal widening, Retinal detachment, Abnormal femoral neck/head morphology, Exudative retino... |
ORPHA:2788 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Central posterior corneal opacity, Recurrent corneal erosions, C... |
ORPHA:98964 |
Waardenburg Syndrome, Type 2A |
|
Synophrys, Premature graying of hair, Hypoplastic iris stroma, Albinism, Numerous pigmented freck... |
OMIM:193510 |
Fibular Hemimelia |
|
Oligodactyly, Short tibia, Toe syndactyly, Short toe, Fibular aplasia, Abnormal morphology of uln... |
ORPHA:93323 |
Waardenburg Syndrome, Type 3 |
|
Blue irides, Clinodactyly, Camptodactyly of finger, Hypopigmented skin patches, Synophrys, Premat... |
OMIM:148820 |
Microphthalmia, Isolated 5 |
|
Cataract, Foveoschisis, Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of th... |
OMIM:611040 |
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Iris coloboma, Hip dysplasia, Abnormal hair morphology, Short foot, Ocular anterior segment dysge... |
OMIM:601427 |
Santos Syndrome |
|
Oligodactyly, Anonychia, Polydactyly, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Me... |
OMIM:613005 |
Syndactyly Type 3 |
|
Camptodactyly of finger, Short toe, Finger syndactyly |
ORPHA:93404 |
Waardenburg Syndrome, Type 4B |
|
Blue irides, Hypopigmented skin patches, Premature graying of hair, White eyelashes, White eyebro... |
OMIM:613265 |
Oculomaxillofacial Dysostosis |
|
Camptodactyly of finger, Abnormality of the humerus, Abnormal eyelash morphology, Cognitive impai... |
ORPHA:1794 |
Split-Hand/Foot Malformation 4 |
|
Aplasia/Hypoplasia of metatarsal bones, Ectrodactyly, Syndactyly, Aplasia/Hypoplasia of the phala... |
OMIM:605289 |
Gorlin Syndrome |
|
Cataract, Palmar pits, Iris coloboma, Melanocytic nevus, Arachnodactyly, Brachydactyly |
ORPHA:377 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Small for gestational age, Polydactyly, Abnormal hip bone morphology, Syndactyly, Upper limb phoc... |
ORPHA:294975 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Microcornea, Iris coloboma, Peripheral retinal atrophy |
OMIM:615147 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Ocular anterior segment dysgenesis, Hydrocephalus, Occipital encephalocele, Microphthalmia, Retin... |
ORPHA:324416 |
Piebald Trait |
|
Piebaldism, Partial albinism, Absent pigmentation of the ventral chest, White forelock, Heterochr... |
OMIM:172800 |
Keratoendotheliitis Fugax Hereditaria |
|
Conjunctival hyperemia, Epiretinal membrane, Keratitis, Opacification of the corneal stroma |
OMIM:148200 |
Ring Dermoid Of Cornea |
|
Abnormal corneal limbus morphology, Abnormal conjunctiva morphology, Corneal astigmatism, Abnorma... |
OMIM:180550 |
Kahrizi Syndrome |
|
Cataract, Iris coloboma |
OMIM:612713 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Cataract, Epicanthus, Brachycephaly, Upslanted palpebral fissure, Microphthalmia, Microcornea |
ORPHA:2528 |
Joubert Syndrome 15 |
|
Retinal dystrophy, Preaxial polydactyly, Exencephaly, Retinopathy, Coloboma |
OMIM:614464 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Cataract, Chorioretinal dysplasia, Astigmatism, Retinal detachment, Optic atrophy, Chorioretinal ... |
OMIM:152950 |
Albinism, Oculocutaneous, Type Ii |
|
Blue irides, Hypoplasia of the fovea, Hypopigmentation of the fundus, Freckles in sun-exposed are... |
OMIM:203200 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Partial albinism, Hypopigmentation of hair |
ORPHA:90023 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Cataract, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal ... |
OMIM:616108 |
Crossed Polysyndactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly |
ORPHA:2935 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Camptodactyly of finger, Postaxial foot polydactyly, Short distal phalanx of finger, Anonychia, H... |
ORPHA:1113 |
Pierpont Syndrome |
|
Short finger, Narrow palpebral fissure, Brachycephaly, Unilateral narrow palpebral fissure, Deep ... |
OMIM:602342 |
Brachydactyly Type B |
|
Short distal phalanx of finger, 2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Syno... |
ORPHA:93383 |
Blue Cone Monochromatism |
|
Corneal dystrophy, Abnormality of retinal pigmentation |
ORPHA:16 |
Vitreoretinal Degeneration, Snowflake Type |
|
Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Corneal guttata, Retina... |
OMIM:193230 |
Multiple Sulfatase Deficiency |
|
Cataract, Rapid neurologic deterioration, Thick eyebrow, Abnormality of retinal pigmentation, Bro... |
ORPHA:585 |
Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Upper eyelid coloboma, Lipomas of eyelids, Absent lacrimal punctum, Widow's peak, Microphthalmia,... |
OMIM:167730 |
Cat-Eye Syndrome |
|
Iris coloboma, Chorioretinal coloboma, Hip dysplasia |
ORPHA:195 |
Acropectoral Syndrome |
|
Finger syndactyly, Preaxial hand polydactyly |
ORPHA:85203 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Peripheral retinal avascularization, Subretinal exudate, Retinal vascular tortuosity, Retinal det... |
OMIM:305390 |
Congenital Disorder Of Glycosylation, Type Id |
|
Clinodactyly of the 5th toe, Nail dysplasia, Iris coloboma, Small nail, Long fingers, Adducted th... |
OMIM:601110 |
Biemond Syndrome Type 2 |
|
Preaxial polydactyly, Hydrocephalus, Microphthalmia, Coloboma, Obesity |
ORPHA:141333 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect, Anophthalmia, Microphthalmia |
OMIM:600776 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Short thumb, Finger syndactyly, Synostosis of carpal bones, Aplasia/Hypoplasia of the hallux, Toe... |
ORPHA:157801 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Cataract, Aminoaciduria, Abnormal fingernail morphology |
ORPHA:2278 |
Aniridia 2 |
|
Cataract, Iris coloboma, Lens subluxation, Aniridia, Optic atrophy |
OMIM:617141 |
Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Schnyder Corneal Dystrophy |
|
Crystalline corneal dystrophy, Corneal dystrophy |
OMIM:121800 |
Temtamy Syndrome |
|
Hip dislocation, Ectopia lentis, Iris coloboma, Lens luxation, Short 2nd toe, Highly arched eyebr... |
OMIM:218340 |
Neovascular Glaucoma |
|
Abnormal uvea morphology, Retinal vascular proliferation, Retinal detachment, Abnormal anterior c... |
ORPHA:94058 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Congenital aphakia, Anterior segment of eye aplasia, Posterior synechiae of the anterio... |
OMIM:610256 |
Acropectorovertebral Dysplasia |
|
Short thumb, Capitate-hamate fusion, Finger syndactyly, Synostosis of carpal bones, Toe syndactyl... |
OMIM:102510 |
Renpenning Syndrome |
|
Cataract, Iris coloboma, Alopecia, Abnormal hairshaft morphology, Abnormal thumb morphology, Thin... |
ORPHA:3242 |
Sjogren-Larsson Syndrome |
|
Opacification of the corneal epithelium, Astigmatism, Macular degeneration, Retinal thinning, Mac... |
OMIM:270200 |
Brachydactyly Type B2 |
|
Short distal phalanx of finger, Finger syndactyly, Synostosis of carpal bones, Short toe, Short d... |
ORPHA:140908 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Polydactyly, Occipital encephalocele, Microphthalmia, Talipes equinovarus, Anophth... |
OMIM:613885 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormal toenail morphology, Supernumerary nipple, Fine hair, Finger syndactyly, Abnormality of r... |
ORPHA:1433 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Hypopigmentation of the skin, Melanin pigment aggrega... |
OMIM:607624 |
Pelvis-Shoulder Dysplasia |
|
Camptodactyly of finger, Prominent protruding coccyx, Iris coloboma, Aplasia/Hypoplasia of the fi... |
ORPHA:2839 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cryptophthalmos, Cataract, Ectopia pupillae, Epicanthus, Long eyelashes, 3-4 finger syndactyly, M... |
OMIM:615877 |
Congenital Primary Aphakia |
|
Congenital aphakia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye, R... |
ORPHA:83461 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Cataract, Abnormality of femur morphology, Abnormal epiphysis morphology, Lower limb undergrowth |
ORPHA:2310 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Chorioretinal coloboma, Iris coloboma |
OMIM:613702 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Retinal detachment, Low anterior hairline, Elevated circulating creatine kinase concent... |
OMIM:613153 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Cataract, Metaphyseal widening, Supernumerary nipple, Short iliac bones, Broad long bone diaphyse... |
OMIM:614376 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Anterior synechiae of the anterior chamber, Hypoplasia of the iris, Scle... |
OMIM:604229 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy |
OMIM:271310 |
Hartsfield Syndrome |
|
Craniosynostosis, Encephalocele, Downslanted palpebral fissures, Lobar holoprosencephaly, Intraut... |
ORPHA:2117 |
Liebenberg Syndrome |
|
2-3 finger syndactyly, Metaphyseal widening, Joint contracture of the 5th finger, Abnormal carpal... |
OMIM:186550 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cataract, Macular atrophy, Optic disc pallor, Talipes equinovarus, Retinopathy, Optic atrophy, Mi... |
OMIM:616171 |
Cat-Eye Syndrome (Type I) |
|
Iris coloboma |
DECIPHER:42 |
White Forelock With Malformations |
|
White forelock, Aplasia/Hypoplasia of the distal phalanges of the toes, Poliosis |
OMIM:277740 |
Familial Exudative Vitreoretinopathy |
|
Abnormal optic disc morphology, Peripheral retinal avascularization, Vitreous floaters, Rhegmatog... |
ORPHA:891 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Iris coloboma, Uveitis, Buphthalmos, Persistent pupillary membrane, Shallow anterior ch... |
OMIM:221900 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Metatarsal osteolysis, Metacarpal osteolysis, Ulnar deviation of the hand, Bilateral elbow disloc... |
OMIM:166300 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Retinal dysplasia, Hydrocephalus |
OMIM:614830 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract |
OMIM:619813 |
Adams-Oliver Syndrome |
|
Short distal phalanx of finger, Absent hand, Abnormality of the upper limb, Sparse hair, Brachyda... |
ORPHA:974 |
Trisomy 13 |
|
Cataract, Calvarial skull defect, Abnormal eyelash morphology, Iris coloboma, Bilateral single tr... |
ORPHA:3378 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Macular atrophy, Iris coloboma, Shallow anterior chamber, Chorioretinal coloboma, Flat cornea, Mi... |
OMIM:602499 |
Retinitis Pigmentosa 13 |
|
Subcapsular cataract, Rod-cone dystrophy, Cystoid macular edema, Asteroid hyalosis, Retinal degen... |
OMIM:600059 |
Oculocutaneous Albinism Type 3 |
|
Blue irides, Freckling, Iris hypopigmentation, Generalized hypopigmentation of hair, White eyelas... |
ORPHA:79433 |
Goldberg-Shprintzen Megacolon Syndrome |
|
Finger syndactyly, Sparse eyebrow, Iris coloboma, Sparse scalp hair |
ORPHA:66629 |
Classic Phenylketonuria |
|
Cataract, Hyperphenylalaninemia, Motor deterioration, Memory impairment, Self-injurious behavior,... |
ORPHA:79254 |
Microphthalmia, Isolated 4 |
|
Coloboma, Microphthalmia, Postaxial polydactyly |
OMIM:613094 |
Syndactyly Type 4 |
|
Camptodactyly of finger, Hand polydactyly, Short tibia, Toe syndactyly, 1-5 finger syndactyly, Fo... |
ORPHA:93405 |
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome |
|
Iris coloboma |
ORPHA:139450 |
Ophthalmomandibulomelic Dysplasia |
|
Decreased mobility 3rd-5th fingers, Elbow dislocation, Megalocornea, Coxa valga, Radioulnar dislo... |
OMIM:164900 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyelash morphology, Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal ey... |
ORPHA:2885 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... |
OMIM:136120 |
Ectrodactyly-Polydactyly Syndrome |
|
Camptodactyly of finger, Ectrodactyly, Finger syndactyly, Abnormal metacarpal morphology, Postaxi... |
ORPHA:1892 |
Premature Ovarian Failure 12 |
|
Microphthalmia, Macular dystrophy |
OMIM:616947 |
Polydactyly, Preaxial Iv |
|
1-5 toe syndactyly, 3-4 finger syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalange... |
OMIM:174700 |
Cohen Syndrome |
|
Chorioretinal dystrophy, Long eyelashes, Iris coloboma, Abnormal eyelash morphology, Narrow palm,... |
ORPHA:193 |
Chromosome 2Q35 Duplication Syndrome |
|
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly |
OMIM:185900 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Pili torti, Patchy alopecia, Sparse eyelashes, Hypoplastic toenails, Alopecia, Absent facial hair... |
OMIM:613573 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Tractional retinal detachment, Buphthalmos, Persistent pupillary membrane, Shallow ante... |
ORPHA:91495 |
Congenital Rubella Syndrome |
|
Cataract, Abnormal metaphysis morphology, Abnormality of retinal pigmentation, Corneal opacity, A... |
ORPHA:290 |
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
|
Cataract, Cognitive impairment, Optic atrophy, Dementia |
ORPHA:329314 |
Brachydactyly-Syndactyly Syndrome |
|
Oligodactyly, Camptodactyly, Finger syndactyly, Syndactyly, Short digit, Short phalanx of finger,... |
OMIM:610713 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia pupillae, Ectopia lentis, Retinal detachment, Persistent pupillary membrane, Ir... |
OMIM:225200 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Cataract, Retinal detachment, Microphakia, Abnormality of retinal pigmentation, Lens subluxation,... |
ORPHA:171844 |
Neuroectodermal Melanolysosomal Disease |
|
Aplasia/Hypoplasia of the macula, Premature graying of hair, Hypopigmentation of the skin, Hypopi... |
ORPHA:33445 |
Microphthalmia With Limb Anomalies |
|
Hip dislocation, Abnormal eyebrow morphology, Short tibia, Abnormality of the upper limb, Toe syn... |
ORPHA:1106 |
Duane Retraction Syndrome |
|
Camptodactyly, Irregular hyperpigmentation, Central heterochromia, Patchy hypopigmentation of hai... |
ORPHA:233 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Optic atrophy, Failure to thrive, Microphthalmia, Coloboma |
OMIM:274270 |
Mulibrey Nanism |
|
Iris coloboma, Astigmatism, Pigmentary retinopathy, Corneal dystrophy, Thickened cortex of long b... |
OMIM:253250 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Metaphyseal spurs, Cataract, Abnormal metacarpophalangeal joint morphology, Hip dysplasia, Abnorm... |
ORPHA:166011 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Cataract, Elevated circulating phytanic acid concentration, Increased circulating very long-chain... |
OMIM:614307 |
Joint Laxity, Short Stature, And Myopia |
|
Retinal detachment, Chorioretinal coloboma, Iris coloboma, Talipes equinovarus |
OMIM:617662 |
Phenylketonuria |
|
Blue irides, Cataract, Self-mutilation, Hyperphenylalaninemia, Generalized hypopigmentation, Mate... |
OMIM:261600 |
Frontofacionasal Dysplasia |
|
Encephalocele, Telecanthus, Brushfield spots, Cataract, Iris coloboma, Brachycephaly, Upper eyeli... |
ORPHA:1791 |
Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Iris hypopigmentation, Optic nerve misrouting, Albinism, Abnormality of ... |
ORPHA:79435 |
Waardenburg Syndrome Type 2 |
|
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, White forelock, ... |
ORPHA:895 |
Autosomal Recessive Stickler Syndrome |
|
Cataract, Vitreoretinopathy, Astigmatism, Retinal detachment, Abnormal epiphysis morphology, Epip... |
ORPHA:250984 |
Carpenter Syndrome |
|
Craniosynostosis, Cloverleaf skull, Polydactyly, Oxycephaly, Umbilical hernia, Obesity, Finger sy... |
ORPHA:65759 |
Exfoliation Syndrome |
|
Cataract, Mydriasis, Phakodonesis, Abnormal lens morphology, Iris hypoperfusion, Anisocoria, Pigm... |
OMIM:177650 |
Gyrate Atrophy Of Choroid And Retina |
|
Cataract, Subcapsular cataract, Abnormal macular morphology, Hyperornithinemia, Chorioretinal hyp... |
ORPHA:414 |
Syndactyly, Type V |
|
Short distal phalanx of finger, Camptodactyly of finger, Absent distal interphalangeal creases, 4... |
OMIM:186300 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Microphthalmia, Neonatal death |
OMIM:615524 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Epicanthus, Astigmatism, Holoprosencephaly, Upslanted palpebral fissure, Syndactyly, Short palpeb... |
OMIM:618820 |
Split-Hand/Foot Malformation 1 |
|
Foot oligodactyly, Ectrodactyly, Syndactyly, Broad hallux, Clinodactyly, Triphalangeal thumb, Han... |
OMIM:183600 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Palmoplantar blistering, Ridged nail, Abnormal toenail morphology, Dystrophic toenail, Abnormal f... |
ORPHA:89838 |
Corneal Dystrophy And Perceptive Deafness |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:217400 |
2Q31.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Toe syndactyly, Abnormal morphology of ulna, Brachydactyly, Abnormality ... |
ORPHA:251014 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Flynn-Aird Syndrome |
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Cataract, Dementia, Alopecia, Alopecia of scalp, Rod-cone dystrophy |
OMIM:136300 |
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 |
Bietti Crystalline Dystrophy |
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Retinal pigment epithelial mottling, Pigmentary retinopathy, Cystoid macular edema, Retinal thinn... |
ORPHA:41751 |
Autosomal Recessive Spastic Paraplegia Type 69 |
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Cataract, Hand tremor |
ORPHA:401830 |
Pierpont Syndrome |
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Short finger, Narrow palpebral fissure, Small for gestational age, Brachycephaly, Excessive wrink... |
ORPHA:487825 |
Joubert Syndrome 22 |
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Postaxial foot polydactyly, Microphthalmia, Postaxial hand polydactyly, 2-3 toe syndactyly, Retin... |
OMIM:615665 |
Cerebrooculonasal Syndrome |
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Epicanthus, Brachycephaly, Upslanted palpebral fissure, Sparse eyebrow, Postaxial hand polydactyl... |
ORPHA:66625 |
Crouzon Syndrome |
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Iris coloboma, Hypopigmented skin patches, Optic atrophy, Conjunctivitis, Melanocytic nevus |
ORPHA:207 |
Acro-Renal-Ocular Syndrome |
|
Short thumb, Toe syndactyly, Short hallux, Preaxial hand polydactyly, Triphalangeal thumb, Iris c... |
ORPHA:959 |
Bardet-Biedl Syndrome 4 |
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Polydactyly, Obesity, Syndactyly, Retinal degeneration, Rod-cone dystrophy, Brachydactyly |
OMIM:615982 |
Senior-Loken Syndrome |
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Retinal dystrophy, Cataract, Cone-shaped epiphysis, Abnormality of retinal pigmentation |
ORPHA:3156 |
Harel-Yoon Syndrome |
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Hip dysplasia, Corneal opacity, Developmental cataract, Optic atrophy, Dystonia |
OMIM:617183 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
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Long eyelashes, Synophrys, Low anterior hairline, Thick eyebrow, Anophthalmia, Telecanthus |
ORPHA:411986 |
Cystinosis, Adult Nonnephropathic |
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Abnormal retinal morphology, Corneal crystals, Elevated circulating creatinine concentration |
OMIM:219750 |
Corneal Dystrophy, Reis-Bucklers Type |
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Corneal erosion, Opacification of the corneal stroma, Corneal opacity, Corneal dystrophy |
OMIM:608470 |
Griscelli Syndrome Type 1 |
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Iris hypopigmentation, Premature graying of hair, White hair, Hyperlipidemia, Partial albinism, R... |
ORPHA:79476 |
Coloboma, Ocular, Autosomal Dominant |
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Optic nerve aplasia, Morning glory anomaly, Chorioretinal coloboma, Corneal opacity, Optic disc c... |
OMIM:120200 |
Bartsocas-Papas Syndrome 2 |
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Axillary pterygium, Absent distal phalanges, 2-5 finger cutaneous syndactyly, Corneal opacity, Sm... |
OMIM:619339 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
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Cataract, Microcornea, Rod-cone dystrophy |
OMIM:619082 |
Aminopterin Syndrome Sine Aminopterin |
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Narrow palpebral fissure, Rudimentary postaxial polydactyly of hands, Brachycephaly, Short thumb,... |
OMIM:600325 |
X-Linked Endothelial Corneal Dystrophy |
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Nuclear cataract, Abnormal corneal endothelium morphology, Corneal opacity, Band keratopathy |
ORPHA:293621 |
Chorea, Remitting, With Nystagmus And Cataract |
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Cataract |
OMIM:601372 |
Greig Cephalopolysyndactyly Syndrome |
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Trigonocephaly, 1-3 toe syndactyly, Preaxial foot polydactyly, Broad thumb, Dolichocephaly, Hirsu... |
OMIM:175700 |
Odontotrichoungual-Digital-Palmar Syndrome |
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Single transverse palmar crease, Short distal phalanx of finger, Nail dysplasia, Nail dystrophy, ... |
OMIM:601957 |
Bartsocas-Papas Syndrome |
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Finger syndactyly, Toe syndactyly, Sparse or absent eyelashes, Popliteal pterygium, Corneal opaci... |
ORPHA:1234 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
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Hydrocephalus, Microphthalmia, Retinal coloboma, Rod-cone dystrophy, Obesity |
OMIM:601794 |
Split-Hand/Foot Malformation 6 |
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Foot oligodactyly, Finger syndactyly, Toe syndactyly, Hand oligodactyly, Split hand, Split foot |
OMIM:225300 |
Zika Virus Disease |
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Abnormal optic disc morphology, Macular atrophy, Iris coloboma, Retinal pigment epithelial mottli... |
ORPHA:448237 |
Posterior Polymorphous Corneal Dystrophy |
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Ectopia pupillae, Astigmatism, Anterior synechiae of the anterior chamber, Corneal stromal edema,... |
ORPHA:98973 |
Retinal Dystrophy And Obesity |
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Peripapillary atrophy, Astigmatism, Retinal detachment, Retinal dots, Attenuation of retinal bloo... |
OMIM:616188 |
Amoebic Keratitis |
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Cataract, Corneal perforation, Corneal ulceration, Abnormal corneal epithelium morphology, Puncta... |
ORPHA:67043 |
Nanophthalmos 4 |
|
Optic disc drusen, Microphthalmia |
OMIM:615972 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
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Macular atrophy, Microphthalmia, Cystoid macular degeneration, Retinal degeneration |
OMIM:267760 |
Leber Congenital Amaurosis 6 |
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Cataract, Keratoconus, Attenuation of retinal blood vessels |
OMIM:613826 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
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Corneal guttata, Corneal stromal edema, Corneal opacity |
OMIM:613267 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
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Cataract, Macular atrophy, Iris coloboma, Corneal scarring, Retinal detachment, Buphthalmos, Chor... |
OMIM:212550 |
Eem Syndrome |
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Sparse body hair, Ectrodactyly, Finger syndactyly, Abnormality of retinal pigmentation, Absent ey... |
ORPHA:1897 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Cataract, Short femoral neck, Delayed ossification of carpal bones, Brachydactyly |
OMIM:618392 |
15Q11Q13 Microduplication Syndrome |
|
Downslanted palpebral fissures, Epicanthus, Finger syndactyly, Clinodactyly of the 5th finger |
ORPHA:238446 |
Albinism-Deafness Syndrome |
|
Partial albinism, Albinism, Patchy hypo- and hyperpigmentation, Piebaldism |
OMIM:300700 |
Corneal Dystrophy, Posterior Amorphous |
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Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
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Metaphyseal widening, Brachydactyly, Coarse metaphyseal trabecularization, Short long bone, Corne... |
OMIM:618961 |
Myopia 28, Autosomal Recessive |
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Cataract, Retinal detachment |
OMIM:619781 |
Oculocutaneous Albinism Type 1 |
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Depigmented fundus, Hypoplasia of the fovea, Blue irides, Iris hypopigmentation, Generalized hypo... |
ORPHA:352731 |
Developmental And Epileptic Encephalopathy 35 |
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Cataract, Limb tremor, Irritability |
OMIM:616647 |
Cherubism |
|
Optic neuropathy, Marcus Gunn pupil, Macular scar |
OMIM:118400 |
Cerebrooculonasal Syndrome |
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Craniosynostosis, Encephalocele, Epicanthus, Brachycephaly, Iris coloboma, Hydrocephalus, Sparse ... |
OMIM:605627 |
Warburg Micro Syndrome 1 |
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Facial hypertrichosis, Overlapping toe, Microphthalmia, Failure to thrive, Hypertrichosis, Optic ... |
OMIM:600118 |
Microphthalmia, Syndromic 16 |
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Sclerocornea, Ankyloblepharon, Anophthalmia, Microphthalmia |
OMIM:611038 |
Branchio-Oculo-Facial Syndrome |
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Cataract, Iris coloboma, Premature graying of hair, Fingernail dysplasia, Preaxial hand polydacty... |
ORPHA:1297 |
Greig Cephalopolysyndactyly Syndrome |
|
Craniosynostosis, Postaxial foot polydactyly, Hydrocephalus, Umbilical hernia, Finger syndactyly,... |
ORPHA:380 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
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Iris coloboma, Cafe-au-lait spot, Sparse eyebrow, Adducted thumb, Alopecia of scalp, Sparse eyela... |
OMIM:618874 |
Cornea Plana 2, Autosomal Recessive |
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Decreased corneal thickness, Corneal arcus, Sclerocornea, Corneal opacity, Flat cornea |
OMIM:217300 |
Olmsted Syndrome 1 |
|
Nail dysplasia, Alopecia universalis, Nail dystrophy, Palmoplantar keratoderma, Corneal opacity, ... |
OMIM:614594 |
Exudative Vitreoretinopathy 6 |
|
Cataract, Retinal exudate, Cortical cataract, Retinal detachment, Tractional retinal detachment, ... |
OMIM:616468 |
Oculocerebral Syndrome With Hypopigmentation |
|
Hypopigmentation of the skin, Silver-gray hair |
OMIM:257800 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
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Sparse body hair, Curly eyelashes, Curly hair, Brittle hair, Sparse eyebrow, Corneal opacity, Spa... |
OMIM:602400 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Anonychia, Alopecia universalis, Mitten deformity, Widely spaced toes, Syndactyly, Neonatal death... |
OMIM:609638 |
Retinitis Pigmentosa 2 |
|
Cataract, Pigmentary retinopathy, Fundus atrophy, Bull's eye maculopathy, Rod-cone dystrophy, Cho... |
OMIM:312600 |
Craniotelencephalic Dysplasia |
|
Craniosynostosis, Frontal encephalocele, Arrhinencephaly, Hydrocephalus, Septo-optic dysplasia, M... |
ORPHA:1528 |
Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Abnormal distal phalanx morphology of finger, Cataract, Bowing of the long bones, Abnormal hip bo... |
ORPHA:2725 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Late-Onset Retinal Degeneration |
|
Multifocal subretinal deposits, Macular atrophy, Peripapillary atrophy, Drusen, Epiretinal membra... |
ORPHA:67042 |
Clouston Syndrome |
|
Cataract, Nail dysplasia, Onycholysis, Absent axillary hair, Fine hair, Brittle hair, Abnormality... |
OMIM:129500 |
Focal Dermal Hypoplasia |
|
Camptodactyly of finger, Hand polydactyly, Upper limb asymmetry, Ectopia lentis, Iris coloboma, A... |
ORPHA:2092 |
Mucolipidosis Iii Alpha/Beta |
|
Retinal degeneration, Short long bone, Hyperopic astigmatism, Shallow acetabular fossae, Carpal b... |
OMIM:252600 |
Curry-Jones Syndrome |
|
Bicoronal synostosis, 2-3 finger syndactyly, Iris coloboma, Triphalangeal hallux, Lipomyelomening... |
OMIM:601707 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Piebaldism |
|
Piebaldism, Hypopigmented skin patches, Synophrys, White eyelashes, Hypopigmentation of hair, Whi... |
ORPHA:2884 |
Brachydactyly, Type B2 |
|
Short distal phalanx of finger, Absent phalangeal crease, Aplasia/Hypoplasia of the distal phalan... |
OMIM:611377 |
Stickler Syndrome, Type V |
|
Cataract, Vitreoretinopathy, Retinal detachment |
OMIM:614284 |
Kapur-Toriello Syndrome |
|
Cataract, Camptodactyly of finger, Clinodactyly of the 5th toe, Iris coloboma, Short thumb, Low p... |
OMIM:244300 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Ectopia pupillae, Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology,... |
OMIM:122000 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Abnormal hair morphology, Brachyturricephaly, Eyelid coloboma, Broad pr... |
OMIM:607597 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Iris coloboma, Lens subluxation, Optic disc coloboma, Retinal coloboma |
OMIM:216820 |
Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
Distal Deletion 13Q |
|
Iris coloboma, Aplasia/Hypoplasia of the thumb, Abnormality of the hand, Abnormal metacarpal morp... |
ORPHA:1590 |
Craniodigital-Intellectual Disability Syndrome |
|
Long eyelashes, Brachycephaly, Thick hair, Finger syndactyly, Thick eyebrow, Spina bifida occulta... |
ORPHA:1514 |
Walker-Warburg Syndrome |
|
Chorioretinal dysplasia, Iris coloboma, Hydrocephalus, Retinal detachment, Microphthalmia, Retina... |
ORPHA:899 |
Wilson-Turner Syndrome |
|
Emotional lability, Cataract, Thick eyebrow, Tapered finger, Small hand, Short foot |
ORPHA:3459 |
Wt Limb-Blood Syndrome |
|
Ulnar deviation of the 3rd finger, Irregular hyperpigmentation, Short thumb, Joint contracture of... |
OMIM:194350 |
Morning Glory Disc Anomaly |
|
Optic disc coloboma, Retinal detachment, Cataract, Abnormality of retinal pigmentation |
ORPHA:35737 |
Stickler Syndrome, Type Ii |
|
Cataract, Retinal detachment, Long fingers, Abnormal vitreous humor morphology, Arachnodactyly |
OMIM:604841 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of metatarsal bones, Aplasia/Hypoplasia of fingers, Aplasia/Hypoplasia of the ... |
OMIM:228930 |
Waardenburg Syndrome, Type 4A |
|
Blue irides, Hypopigmented skin patches, Premature graying of hair, White eyelashes, White eyebro... |
OMIM:277580 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Cataract, Short palm, Small hand, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of ... |
ORPHA:85172 |
Sclerosteosis |
|
2-3 finger syndactyly, Curved distal phalanges of the hand, Finger syndactyly, Fingernail dysplas... |
ORPHA:3152 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Cutaneous finger syndactyly, Duplication of metatarsal bones, Syndactyly, Aplasia/Hypoplasia of toe |
OMIM:600384 |
Isolated Aniridia |
|
Cataract, Aniridia, Aplasia/Hypoplasia of the macula, Peters anomaly |
ORPHA:250923 |
Spastic Paraplegia 5A, Autosomal Recessive |
|
Cataract, Cognitive impairment, Postural tremor, Abnormal circulating cholesterol concentration, ... |
OMIM:270800 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Bresek Syndrome |
|
Postaxial hand polydactyly, Iris coloboma, Optic nerve hypoplasia, Alopecia |
ORPHA:85284 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract, Hyperbilirubinemia |
OMIM:618660 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short distal phalanx of finger, Short thumb, Hypoplastic toenails, Osseous finger syndactyly, Sho... |
ORPHA:370010 |
Oculoauricular Syndrome |
|
Cataract, Iris cyst, Rod-cone dystrophy, Iris coloboma, Morning glory anomaly, Cone/cone-rod dyst... |
OMIM:612109 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Cataract, Epiphyseal stippling |
OMIM:614876 |
Myopia 17, Autosomal Dominant |
|
Presenile cataracts, Retinal hole |
OMIM:608367 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Epicanthus, Fifth finger distal phalanx clinodactyly, Broad long bones, Short palpebral fissure, ... |
OMIM:257850 |
Congenital Hydrocephalus |
|
Optic atrophy, Iris coloboma |
ORPHA:2185 |
Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Short phalanx of finger, Split hand, Split foot |
OMIM:313350 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Cataract, Retinal dystrophy |
OMIM:610156 |
Incontinentia Pigmenti |
|
Camptodactyly of finger, Absent hand, Dystrophic toenail, Abnormal hand morphology, Abnormality o... |
ORPHA:464 |
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
3-4 finger syndactyly, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypopl... |
OMIM:609432 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Iris coloboma, Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Ocular anterior s... |
OMIM:615145 |
Leber Congenital Amaurosis |
|
Abnormal optic disc morphology, Keratoconus, Cataract, Abnormality of retinal pigmentation |
ORPHA:65 |
Nevus Comedonicus Syndrome |
|
Cataract, Preaxial polydactyly, Finger syndactyly, Toe syndactyly, Abnormal hair morphology |
ORPHA:64754 |
Raindrop Hypopigmentation |
|
Hypopigmentation of the skin |
OMIM:179500 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Plagiocephaly, Camptodactyly of finger, Abnormal size of the palpebral fissures, Ulnar deviation ... |
ORPHA:1101 |
Sandestig-Stefanova Syndrome |
|
Camptodactyly, Epicanthus, Small for gestational age, Bilateral single transverse palmar creases,... |
OMIM:618804 |
Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
Mucolipidosis Type Iv |
|
Retinopathy, Palmoplantar keratoderma, Corneal opacity, Abnormality of retinal pigmentation |
ORPHA:578 |
Trisomy 1Q |
|
Camptodactyly of finger, Hydrocephalus, Hypoplastic toenails, Aplasia/Hypoplasia of the nails, Do... |
ORPHA:261344 |
Uncombable Hair Syndrome |
|
Patchy alopecia, White hair, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia |
ORPHA:1410 |
Short Syndrome |
|
Megalocornea, Abnormal pupil morphology, Abnormal anterior chamber morphology, Alopecia, Hypoplas... |
ORPHA:3163 |
Central Retinal Vein Occlusion |
|
Retinal vascular tortuosity, Papilledema, Macular degeneration, Pigmentary retinopathy, Cystoid m... |
ORPHA:411527 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Cataract, Abnormal eyelash morphology, Bilateral microphthalmos, Lipomas of eyelids, Widow's peak... |
ORPHA:2399 |
Aniridia-Intellectual Disability Syndrome |
|
Cataract, Ectopia lentis, Aniridia, Optic nerve hypoplasia |
ORPHA:1068 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Heart-Hand Syndrome, Slovenian Type |
|
Clinodactyly, Aplasia of the middle phalanx of the hand, Syndactyly, Brachydactyly |
OMIM:610140 |
Martsolf Syndrome 2 |
|
Cataract, Camptodactyly of finger, Camptodactyly, Overlapping toe, Developmental cataract |
OMIM:619420 |
Congenital Toxoplasmosis |
|
Jaundice, Hydrocephalus, Failure to thrive in infancy, Hepatomegaly, Elevated hepatic transaminas... |
ORPHA:858 |
Alg2-Cdg |
|
Cataract, Iris coloboma |
ORPHA:79326 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly |
OMIM:241000 |
Oculocutaneous Albinism Type 2 |
|
Blue irides, Hypoplasia of the fovea, Absent skin pigmentation, Iris hypopigmentation, Freckling,... |
ORPHA:79432 |
Leber Congenital Amaurosis 16 |
|
Cataract, Optic disc pallor |
OMIM:614186 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Blue irides, Short metatarsal, Advanced ossification of carpal bones, Short phalanx of finger, Sh... |
OMIM:614613 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Cataract, Generalized hypopigmentation, Microphthalmia, Clinodactyly of the 5th finger, Shallow o... |
OMIM:617306 |
Brachydactyly-Syndactyly, Zhao Type |
|
Short fifth metatarsal, Hallux valgus, Toe syndactyly, Short middle phalanx of the 5th finger, Sh... |
ORPHA:93409 |
3Q29 Microduplication Syndrome |
|
Cataract, Camptodactyly of toe, Iris coloboma, Toe syndactyly, Aniridia, Sclerocornea, Sandal gap |
ORPHA:251038 |
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Proximal placement of thumb, Hypopigmented skin patches, Abnormality of the wrist, Finger syndact... |
ORPHA:1825 |
X-Linked Recessive Ocular Albinism |
|
Hypoplasia of the fovea, Freckling, Abnormal macular morphology, Iris hypopigmentation, Astigmati... |
ORPHA:54 |
Baralle-Macken Syndrome |
|
Cataract, Cafe-au-lait spot, Tapered finger, Hirsutism, Dystonia |
OMIM:619255 |
Congenital Sialidosis Type 2 |
|
Cataract, Hypoplasia of the fovea, Polydactyly, Generalized hypertrichosis, Cherry red spot of th... |
ORPHA:93400 |
Holoprosencephaly |
|
Epicanthus, Thick eyebrow, Upslanted palpebral fissure, Highly arched eyebrow, Abnormality of the... |
ORPHA:2162 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
|