Microphthalmia, Isolated, With Coloboma 4 |
|
Orbital cyst, Microcornea, Microphthalmia, Coloboma |
OMIM:251505 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Iris coloboma, Microphthalmia, Buphthalmos, Anterior synechiae of the anterior chamber,... |
OMIM:269400 |
Alopecia Areata 2 |
|
Alopecia of scalp, Alopecia universalis, Patchy alopecia, Alopecia totalis |
OMIM:610753 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Microphthalmia, Anterior synechiae of the anterior chamber, Hypoplasia o... |
OMIM:604229 |
Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia pupillae, Ectopia lentis, Iridodonesis, Microphakia, Persistent pupillary membr... |
OMIM:617319 |
Alopecia Universalis Congenita |
|
Alopecia universalis, Absent axillary hair, Absent eyelashes, Absent eyebrow, Absent pubic hair |
OMIM:203655 |
Hypotrichosis Simplex |
|
Sparse body hair, Alopecia, Sparse eyebrow, Sparse hair, Sparse eyelashes, Sparse scalp hair |
ORPHA:55654 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Iris coloboma, Retinal detachment, Microphthalmia, Posterior embryotoxon, Chorioretinal... |
ORPHA:1473 |
Megalocornea |
|
Cataract, Megalocornea, Astigmatism, Mosaic corneal dystrophy, Retinal detachment, Iridodonesis, ... |
OMIM:309300 |
Hypotrichosis 4 |
|
Sparse body hair, Uncombable hair, Alopecia, Sparse eyebrow, Sparse eyelashes, Sparse scalp hair |
OMIM:146550 |
Congenital Primary Aphakia |
|
Congenital aphakia, Microphthalmia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segme... |
ORPHA:83461 |
Alopecia Areata 1 |
|
Nail pits, Alopecia universalis, Patchy alopecia, Trachyonychia, Alopecia totalis |
OMIM:104000 |
Cataract 21, Multiple Types |
|
Cerulean cataract, Cortical pulverulent cataract, Peters anomaly, Iris coloboma, Retinal detachme... |
OMIM:610202 |
Alopecia Universalis |
|
Absent eyebrow, Alopecia universalis, Patchy alopecia, Absent eyelashes |
ORPHA:701 |
Oculoauricular Syndrome |
|
Cone/cone-rod dystrophy, Microphakia, Phthisis bulbi, Nasolacrimal duct obstruction, Rod-cone dys... |
OMIM:612109 |
Hypotrichosis 11 |
|
Alopecia universalis, Absent axillary hair, Sparse or absent eyelashes, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Iris cyst, Hypoplasia of the fovea, Epicanthus, Upslanted palpebral fissure, Optic atrophy, Ptosis |
OMIM:620086 |
Peters Anomaly |
|
Subcapsular cataract, Thinning of Descemet membrane, Anterior synechiae of the anterior chamber, ... |
ORPHA:708 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Cataract, Retinal detachment, Microphakia, Abnormality of retinal pigmentation, Lens subluxation |
ORPHA:171844 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Congenital aphakia, Anterior segment of eye aplasia, Microphthalmia, Posterior synechia... |
OMIM:610256 |
Cataract-Microcornea Syndrome |
|
Cataract, Iris coloboma, Corneal dystrophy, Corneal opacity, Microcornea |
ORPHA:1377 |
Alopecia Totalis |
|
Alopecia of scalp, Alopecia |
ORPHA:700 |
Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia universalis, Alopecia |
OMIM:203650 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Iris coloboma, Microphthalmia, Microcoria, Chorioretinal coloboma, Optic pit, Anophthalmia |
OMIM:616428 |
Galactosialidosis |
|
Cherry red spot of the macula, Corneal opacity |
ORPHA:351 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Corneal Dystrophy, Lisch Epithelial |
|
Corneal dystrophy |
OMIM:300778 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract, Microphthalmia |
OMIM:156850 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Cataract 9, Multiple Types |
|
Cataract, Iris coloboma, Microphthalmia, Developmental cataract, Progressive cataract, Microcornea |
OMIM:604219 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Band keratopathy, Corneal opacity, Corneal dystrophy |
OMIM:300779 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Posterior Polymorphous Corneal Dystrophy |
|
Ectopia pupillae, Astigmatism, Anterior synechiae of the anterior chamber, Corneal stromal edema,... |
ORPHA:98973 |
Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity, Microphthalmia |
ORPHA:2432 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse axillary hair, Alopecia, Sparse pubic hair, Sparse scalp hair |
ORPHA:505 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Iris coloboma, Uveitis, Microphthalmia, Buphthalmos, Persistent pupillary membrane, Sha... |
OMIM:221900 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Freckling, Iris hypopigmentation, Abnormal size of the palpebral fissures, Iris coloboma, Hypopig... |
ORPHA:3214 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Inferior chorioretinal coloboma, Iris coloboma, Microphthalmia |
OMIM:614497 |
Stickler Syndrome Type 2 |
|
Cataract, Retinal detachment, Abnormal vitreous humor morphology, Corneal opacity, Retinopathy |
ORPHA:90654 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Chorioretinal coloboma |
OMIM:274205 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Thin toenail, Alopecia, Dystrophic toenail |
OMIM:614928 |
Microphthalmia, Syndromic 13 |
|
Iris coloboma, Microphthalmia, Chorioretinal coloboma, Microcornea, Ptosis |
OMIM:300915 |
Obsolete: Isolated Optic Nerve Hypoplasia/Aplasia |
|
Optic disc hypoplasia, Peripheral vitreous opacities, Optic nerve hypoplasia, Unilateral micropht... |
ORPHA:137902 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Astigmatism, Optic nerve misrouting, Microphthalmia, Foveal hyperpigment... |
OMIM:609218 |
Glaucoma, Primary Closed-Angle |
|
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio |
OMIM:618880 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Iris coloboma, Microphthalmia, Chorioretinal coloboma, Posterior lenticonus, Remnants of the hyal... |
ORPHA:231736 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma, Microphthalmia |
OMIM:610092 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia of scalp, Alopecia |
OMIM:260910 |
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
|
Developmental cataract, Posterior synechiae of the anterior chamber, Iris coloboma, Retinal atrophy |
OMIM:616722 |
Blue Cone Monochromatism |
|
Corneal dystrophy, Abnormality of retinal pigmentation |
ORPHA:16 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Ectopia pupillae, Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology,... |
OMIM:122000 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c... |
OMIM:614195 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density, Widely spaced teeth, Taurodontia, Microdontia, Fragile nails, Abn... |
OMIM:190320 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Persistent pupillary membrane, Hypopigmentation of hair, Corneal opacity, Aplasia/Hypop... |
ORPHA:1067 |
Cranioectodermal Dysplasia |
|
Craniosynostosis, Short distal phalanx of finger, Abnormality of the dentition, Abnormal metaphys... |
ORPHA:1515 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract, Rod-cone dystrophy, Abnormality of skin pigmentation |
OMIM:300719 |
Leber Congenital Amaurosis 8 |
|
Cataract, Pigmentary retinopathy, Macular coloboma, Keratoconus, Choriocapillaris atrophy, Nummul... |
OMIM:613835 |
Corneal Dystrophy, Congenital Stromal |
|
Corneal erosion, Increased corneal thickness, Band-shaped corneal dystrophy, Corneal dystrophy |
OMIM:610048 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Chorioretinal coloboma, Iris coloboma, Microphthalmia |
OMIM:120433 |
Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Ectopia lentis, Corneal opacity |
OMIM:613086 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Ocular anterior segment dysgenesis, Microphthalmia, Retinal dysplasia, Developmental cataract, Co... |
ORPHA:324416 |
Trichorhinophalangeal Syndrome, Type I |
|
Protruding ear, Coxa magna, Short metatarsal, Osteoarthritis, Slow-growing hair, Narrow palate, C... |
OMIM:190350 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Sparse body hair, Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic toenails,... |
ORPHA:2722 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract, Optic atrophy, Generalized hyperpigmentation |
ORPHA:2253 |
Iridocorneal Endothelial Syndrome |
|
Ectopia pupillae, Abnormal migration of corneal endothelium, Central heterochromia, Hypoplastic i... |
ORPHA:64734 |
Trisomy 4P |
|
Camptodactyly of finger, Radial club hand, Abnormal palate morphology, Abnormality of the dentiti... |
ORPHA:1738 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Cataract, Chorioretinal dysplasia, Retinal detachment, Optic disc pallor, Microphthalmia, Abnorma... |
OMIM:251270 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Ectopia lentis, Iris coloboma, Abnormality of retinal pigmentation, Palpebral edema, Ptosis |
ORPHA:1259 |
Microphthalmia, Isolated 5 |
|
Cataract, Foveoschisis, Optic disc pallor, Cystoid macular edema, Microphthalmia, Bone spicule pi... |
OMIM:611040 |
Leber Congenital Amaurosis 2 |
|
Cataract, Pigmentary retinopathy, Optic disc pallor, Fundus atrophy, Keratoconus, Attenuation of ... |
OMIM:204100 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Infantile spasms, Cryptorchidism, Congenital hip dislocation, Widely spaced teeth, Dislocation of... |
OMIM:619797 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Bilateral microphthalmos, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Anophthalmia |
OMIM:611638 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Tiger tail banding, High, narrow palate, Dental malocclusion, Sparse eyebrow, Joint laxity, Nail ... |
OMIM:619692 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Cataract, Epicanthus, Upslanted palpebral fissure, Microphthalmia, Microcornea |
ORPHA:2528 |
Retinitis Pigmentosa 40 |
|
Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo... |
OMIM:613801 |
Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
Cornea Plana 2, Autosomal Recessive |
|
Decreased corneal thickness, Microphthalmia, Corneal arcus, Sclerocornea, Corneal opacity, Flat c... |
OMIM:217300 |
Spondylo-Ocular Syndrome |
|
Cataract, Iris hypopigmentation, Abnormal eyebrow morphology, Retinal detachment, Microphthalmia,... |
ORPHA:85194 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Short distal phalanx of finger, Hip dysplasia, Widely spaced teeth, Thick eyebrow, Highly arched ... |
OMIM:619293 |
X-Linked Retinoschisis |
|
Cataract, Retinoschisis |
ORPHA:792 |
Retinitis Pigmentosa 84 |
|
Cataract, Macular atrophy, Macular coloboma, Bone spicule pigmentation of the retina, Attenuation... |
OMIM:618220 |
Rubinstein-Taybi Syndrome 2 |
|
High palate, Long eyelashes, Retrognathia, Short first metatarsal, Posterior helix pit, Posterior... |
OMIM:613684 |
Hemifacial Atrophy, Progressive |
|
Patchy alopecia, Short mandibular rami, Poliosis, Tongue atrophy, Dental malocclusion, Seizure, D... |
OMIM:141300 |
Pierpont Syndrome |
|
Widely spaced teeth, Hearing impairment, High anterior hairline, Short toe, Thin vermilion border... |
ORPHA:487825 |
Autosomal Dominant Keratitis |
|
Cataract, Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Limbal stem... |
ORPHA:2334 |
Warburg Micro Syndrome 1 |
|
Low-set ears, Cryptorchidism, Facial hypertrichosis, Overlapping toe, Osteoporosis, Narrow mouth,... |
OMIM:600118 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Sparse body hair, Alopecia, Dystrophic toenail, Onychogryposis of toenails, Alopecia of scalp |
OMIM:617294 |
Leber Congenital Amaurosis 4 |
|
Macular atrophy, Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Attenuation of retinal ... |
OMIM:604393 |
Craniosynostosis 3 |
|
Bicoronal synostosis, Hallux valgus, Left unicoronal synostosis, Right unicoronal synostosis, Low... |
OMIM:615314 |
Macular Dystrophy, Corneal |
|
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea, Macular dyst... |
OMIM:217800 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Ocular anterior segment dysgenesis, Iris coloboma, Microphthalmia, Peters anomaly, Coloboma |
OMIM:610023 |
Microphthalmia, Isolated 6 |
|
Retinal fold, Microcornea, Microphthalmia |
OMIM:613517 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Cataract, Macular atrophy, Iris coloboma, Corneal scarring, Retinal detachment, Microphthalmia, B... |
OMIM:212550 |
Cataract 11, Multiple Types |
|
Cataract, Developmental cataract, Microphthalmia |
OMIM:610623 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Narrow palpebral fissure, Iris coloboma, Retinal detachment, Microphthalmia, Macular coloboma, Sc... |
OMIM:615145 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Florid Cemento-Osseous Dysplasia |
|
Periapical bone loss, Abnormal cementum morphology, Atrophy of alveolar ridges, Abnormality of pr... |
ORPHA:83451 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Hip dislocation, Alopecia, Short middle phalanx of the 5th finger, Cutaneous finger syndactyly, L... |
OMIM:203550 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Nail pits, Congenital alopecia totalis, Ridged nail |
ORPHA:169095 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Cataract, Aplasia/Hypoplasia of the lens |
ORPHA:1381 |
Thumb Deformity And Alopecia |
|
Short stature, Alopecia |
OMIM:188150 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Abnormal macular morphology, Granular macular appearance, Rhegmatogenous retinal detachment, Reti... |
ORPHA:364055 |
Retinitis Pigmentosa 4 |
|
Cataract, Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Atten... |
OMIM:613731 |
Intermediate Uveitis |
|
Cataract, Vitreous floaters, Optic neuritis, Vitreous snowballs, Epiretinal membrane, Cystoid mac... |
ORPHA:279914 |
2Q24 Microdeletion Syndrome |
|
Cataract, Downslanted palpebral fissures, Microphthalmia, Abnormality iris morphology, Coloboma |
ORPHA:1617 |
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 |
Parc Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes |
OMIM:600331 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Macular atrophy, Cystoid macular degeneration, Microphthalmia, Retinal degeneration, Shallow ante... |
OMIM:267760 |
Intellectual Disability, Wolff Type |
|
Short distal phalanx of finger, Camptodactyly of finger, Inguinal hernia, Cryptorchidism, Abnorma... |
ORPHA:3080 |
Muenke Syndrome |
|
Clinodactyly, High palate, Coronal craniosynostosis, Malar flattening, Thimble-shaped middle phal... |
OMIM:602849 |
Trichodysplasia-Xeroderma Syndrome |
|
Trichodysplasia, Sparse body hair, Trichorrhexis nodosa, Brittle hair, Alopecia, Coarse hair, Spa... |
ORPHA:3361 |
Tricho-Dento-Osseous Syndrome |
|
Abnormal hair quantity, Increased bone mineral density, Widely spaced teeth, Taurodontia, Enamel ... |
ORPHA:3352 |
Corneal Dystrophy, Groenouw Type I |
|
Cataract, Granular corneal dystrophy, Punctate corneal dystrophy, Nodular corneal dystrophy |
OMIM:121900 |
Cone-Rod Dystrophy 16 |
|
Cataract, Beaten bronze macular sheen, Macular atrophy, Cone/cone-rod dystrophy, Optic disc pallo... |
OMIM:614500 |
Leber Congenital Amaurosis 6 |
|
Cataract, Keratoconus, Attenuation of retinal blood vessels |
OMIM:613826 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Morning glory anomaly, Microphthalmia, Chorioretinal coloboma, Corneal opaci... |
OMIM:120200 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Cataract, Upslanted palpebral fissure, Bone spicule pigmentation of the retina, Attenuation of re... |
OMIM:616108 |
Coats Disease |
|
Cataract, Abnormal macular morphology, Abnormal retinal vascular morphology, Retinal detachment, ... |
ORPHA:190 |
Auriculocondylar Syndrome 2 |
|
Low-set ears, Overfolding of the superior helices, Temporomandibular joint ankylosis, Posteriorly... |
OMIM:614669 |
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
Ring Dermoid Of Cornea |
|
Abnormal corneal limbus morphology, Abnormal conjunctiva morphology, Corneal astigmatism, Abnorma... |
OMIM:180550 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Sparse body hair, Pili torti, Onycholysis, Brittle hair, Alopecia, Temporal hypotrichosis, Absent... |
OMIM:602032 |
Distal Deletion 6P |
|
Ectopia pupillae, Epicanthus, Downslanted palpebral fissures, Abnormal anterior chamber morpholog... |
ORPHA:96125 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Joint stiffness, Osteoporosis, Alopecia, Seizure, Progressive sen... |
OMIM:136300 |
Norrie Disease |
|
Cataract, Retinal detachment, Optic atrophy, Buphthalmos, Microphthalmia, Shallow anterior chambe... |
OMIM:310600 |
Pycnodysostosis |
|
Osteolytic defects of the distal phalanges of the hand, Rhizomelia, Carious teeth, Increased susc... |
ORPHA:763 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Inguinal hernia, Tooth agenesis, Flattened epiphysis, Advanced ossification of carpal bones, Clef... |
OMIM:618363 |
Alpha-Mannosidosis |
|
Macroglossia, Craniofacial hyperostosis, Chronic otitis media, Inguinal hernia, Hip dysplasia, Hy... |
ORPHA:61 |
Leber Congenital Amaurosis 1 |
|
Cataract, Pigmentary retinopathy, Fundus atrophy, Keratoconus, Attenuation of retinal blood vesse... |
OMIM:204000 |
Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Dandy-Walker malformation, Highly arched eyebrow, Seizure, Long philtrum, Smooth philtrum, Macrot... |
ORPHA:438178 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Camptodactyly of finger, Patchy alopecia, Plantar hyperkeratosis, Enamel hypoplasia, Fragile nail... |
OMIM:226650 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract, Rod-cone dystrophy, Retinal coloboma, Microphthalmia |
ORPHA:363741 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Abnormality of dental eruption, Short distal phalanx of finger, Camptodactyly of finger, Hallux v... |
ORPHA:1327 |
Leber Congenital Amaurosis 9 |
|
Macular atrophy, Retinal pigment epithelial mottling, Optic disc pallor, Macular coloboma, Retina... |
OMIM:608553 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cataract, Rod-cone dystrophy, Microphthalmia, Retinal coloboma |
OMIM:601794 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cataract, Macular atrophy, Optic disc pallor, Microphthalmia, Retinopathy, Optic atrophy, Microco... |
OMIM:616171 |
Seckel Syndrome 1 |
|
Hip dislocation, Selective tooth agenesis, Cleft palate, 11 pairs of ribs, Cone-shaped epiphyses ... |
OMIM:210600 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Cataract, Chorioretinal dysplasia, Epicanthus, Astigmatism, Downslanted palpebral fissures, Retin... |
OMIM:152950 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Tractional retinal detachment, Microphthalmia, Buphthalmos, Persistent pupillary membra... |
ORPHA:91495 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse body hair, Alopecia universalis, Abnormal eyelash morphology, Hydrocephalus, Sparse scalp ... |
ORPHA:1008 |
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia |
|
Developmental cataract, Corneal dystrophy |
OMIM:271320 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Developmental cataract, Optic atrophy, Corneal dystrophy |
ORPHA:2572 |
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder |
|
Highly arched eyebrow, Seizure, Cerebellar vermis atrophy, Long philtrum, Macrotia, Thin upper li... |
OMIM:616154 |
Microphthalmia, Isolated 2 |
|
Microphthalmia, Opacification of the corneal stroma |
OMIM:610093 |
Phacoanaphylactic Uveitis |
|
Vitreoretinopathy, Abnormal corneal endothelium morphology, Tractional retinal detachment, Retina... |
ORPHA:209959 |
Pierpont Syndrome |
|
Widely spaced teeth, Hearing impairment, Prominent median palatal raphe, High anterior hairline, ... |
OMIM:602342 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Camptodactyly of finger, High palate, Bifid uvula, Flattened epiphysis, Short phalanx of finger, ... |
OMIM:612350 |
Pupillary Membrane, Persistence Of |
|
Megalocornea, Developmental cataract, Persistent pupillary membrane |
OMIM:178900 |
Keratoendotheliitis Fugax Hereditaria |
|
Conjunctival hyperemia, Epiretinal membrane, Keratitis, Opacification of the corneal stroma |
OMIM:148200 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Short distal phalanx of finger, Nail dysplasia, Nail dystrophy, Mandibular prognathia, Abnormalit... |
OMIM:601957 |
Idiopathic Panuveitis |
|
Cataract, Vitreous floaters, Vitreous snowballs, Epiretinal membrane, Cystoid macular edema, Conj... |
ORPHA:280921 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity |
ORPHA:1980 |
Temple-Baraitser Syndrome |
|
Short distal phalanx of finger, Thick eyebrow, Broad thumb, High anterior hairline, Short phalanx... |
ORPHA:420561 |
Corneal Dystrophy, Epithelial Basement Membrane |
|
Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy, Corneal dystrophy |
OMIM:121820 |
Weaver Syndrome |
|
Camptodactyly of finger, Inguinal hernia, Pes cavus, Broad thumb, Low-set, posteriorly rotated ea... |
ORPHA:3447 |
Oculodentodigital Dysplasia |
|
Camptodactyly of finger, Tooth agenesis, Abnormal cortical bone morphology, Abnormal diaphysis mo... |
ORPHA:2710 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Dental malocclusion, Clavicular sclerosi... |
OMIM:144750 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Cataract, Phakodonesis, Ectopia lentis, Downslanted palpebral fissures, Spontaneous conjunctival ... |
OMIM:601552 |
Pyle Disease |
|
Absent paranasal sinuses, Limited elbow extension, Reduced bone mineral density, Hypoplastic fron... |
OMIM:265900 |
Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial mottling, Pigmentary retinopathy, Cystoid macular edema, Retinal thinn... |
ORPHA:41751 |
Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Astigmatism, Pigmentary retinopathy |
OMIM:268060 |
Leber Congenital Amaurosis |
|
Abnormal optic disc morphology, Keratoconus, Cataract, Abnormality of retinal pigmentation |
ORPHA:65 |
Vitamin D-Dependent Rickets, Type 2A |
|
Rickets, Thin bony cortex, Secondary hyperparathyroidism, Alopecia universalis, Bulging epiphyses... |
OMIM:277440 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Retinal detachment, Persistent pupillary membrane |
OMIM:620253 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Limb undergrowth, Malar flattening, Short tibia, Short 4th metacarpal, Short 3rd metacarpal, Micr... |
OMIM:118651 |
Trichomegaly |
|
Cataract, Long eyelashes |
OMIM:190330 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Iris coloboma, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles, Chorioretinal col... |
OMIM:601706 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Ectopia lentis, Megalocornea, Iridodonesis, Microspherophakia, Buphthalmos, Deep anterior chamber |
OMIM:251750 |
Morning Glory Disc Anomaly |
|
Optic disc coloboma, Retinal detachment, Cataract, Abnormality of retinal pigmentation |
ORPHA:35737 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Peripheral retinal avascularization, Subretinal exudate, Retinal vascular tortuosity, Retinal det... |
OMIM:305390 |
Mcdonough Syndrome |
|
Low-set, posteriorly rotated ears, Cryptorchidism, Abnormal palate morphology, Protruding ear, Sy... |
ORPHA:2471 |
Amelogenesis Imperfecta |
|
Abnormal jaw morphology, Multiple unerupted teeth, Fragile teeth, Abnormality of permanent molar ... |
ORPHA:88661 |
Keratoconus 9 |
|
Keratoconus, Decreased corneal thickness |
OMIM:617928 |
Leber Congenital Amaurosis 7 |
|
Cataract, Keratoconus |
OMIM:613829 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hallux valgus, Synophrys, Dental malocclusion, Anteverted ears, Macrotia |
OMIM:615541 |
Zimmermann-Laband Syndrome |
|
Facial hypertrichosis, Bifid uvula, Pes cavus, Thick eyebrow, Cleft palate, Supernumerary tooth, ... |
ORPHA:3473 |
Coffin-Siris Syndrome 2 |
|
Short distal phalanx of finger, Inguinal hernia, Thick eyebrow, Cleft palate, Hearing impairment,... |
OMIM:614607 |
Kohlschutter-Tonz Syndrome |
|
Focal-onset seizure, Myoclonic seizure, Amelogenesis imperfecta, Bilateral tonic-clonic seizure, ... |
OMIM:226750 |
Auriculocondylar Syndrome 1 |
|
Low-set ears, Overfolding of the superior helices, Posteriorly rotated ears, Ankylosis, Cleft pal... |
OMIM:602483 |
Rafiq Syndrome |
|
Low-set ears, Malar flattening, Broad eyebrow, Highly arched eyebrow, Sparse lateral eyebrow, Spa... |
OMIM:614202 |
Otodental Syndrome |
|
Cataract, Lens coloboma, Iris coloboma, Microphthalmia, Retinal coloboma, Microcornea |
ORPHA:2791 |
Intermediate Osteopetrosis |
|
Hepatosplenomegaly, Generalized osteosclerosis, Osteosclerosis of the base of the skull, Abnormal... |
ORPHA:210110 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Low-set ears, Fractured radius, Decreased fibular diameter, Limb undergrowth, Unilateral cleft li... |
OMIM:616897 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Second metatarsal posteriorly placed, Rocker bottom foot, Thin vermilion border, Carious teeth, C... |
OMIM:214150 |
Cleft Palate, Isolated |
|
Micrognathia, Cleft palate, Seizure, Gingival overgrowth, Anterior open-bite malocclusion, Increa... |
OMIM:119540 |
Hidrotic Ectodermal Dysplasia |
|
Anonychia, Absent pubic hair, Absent axillary hair, Sparse axillary hair, Fine hair, Slow-growing... |
ORPHA:189 |
Oliver-Mcfarlane Syndrome |
|
Long eyelashes, Central heterochromia, Pigmentary retinopathy, Retinal degeneration, Long eyebrows |
OMIM:275400 |
Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Schnyder Corneal Dystrophy |
|
Crystalline corneal dystrophy, Corneal dystrophy |
OMIM:121800 |
Wagner Vitreoretinopathy |
|
Cataract, Optically empty vitreous, Vitreoretinopathy, Peripheral tractional retinal detachment, ... |
OMIM:143200 |
Microphthalmia, Syndromic 16 |
|
Anophthalmia, Ankyloblepharon, Sclerocornea, Microphthalmia |
OMIM:611038 |
Cat-Eye Syndrome |
|
Downslanted palpebral fissures, Chorioretinal coloboma, Iris coloboma, Microphthalmia |
ORPHA:195 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Oligodontia, Slender toe, Narrow mouth, Cerebellar hypoplasia, Sparse hair, Down-sloping shoulder... |
ORPHA:391408 |
Nanophthalmos |
|
Abnormal choroid morphology, Microphthalmia, Abnormality of retinal pigmentation |
ORPHA:35612 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Retinal detachment, Microphthalmia, Corneal opacity, Coloboma |
OMIM:613153 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Conical tooth, Pili torti, Patchy alopecia, Sparse eyelashes, Hypoplastic toenails, Widely spaced... |
OMIM:613573 |
Marie Unna Hereditary Hypotrichosis |
|
Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal... |
ORPHA:444 |
Thiel-Behnke Corneal Dystrophy |
|
Central corneal dystrophy, Subepithelial corneal opacities, Recurrent corneal erosions, Astigmati... |
ORPHA:98960 |
Retinitis Pigmentosa 13 |
|
Subcapsular cataract, Rod-cone dystrophy, Cystoid macular edema, Asteroid hyalosis, Retinal degen... |
OMIM:600059 |
Dentin Dysplasia, Type I |
|
Oligodontia, Periapical bone loss, Taurodontia, Enamel hypoplasia, Microdontia, Short dental root... |
OMIM:125400 |
Weill-Marchesani Syndrome 3 |
|
Shallow anterior chamber, Ectopia lentis, Microspherophakia |
OMIM:614819 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Toenail dysplasia, Tooth agenesis, Anemia, Hypoplastic toenails, Mandibular prognathia, Alopecia,... |
ORPHA:2325 |
11P15.4 Microduplication Syndrome |
|
Synophrys, Posteriorly rotated ears, Highly arched eyebrow, Seizure, Long philtrum, Smooth philtr... |
ORPHA:300305 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Hypohidrosis, Abnormal toenail morphology, Fine hair, Alopecia, Abnormal fingernail morphology, A... |
ORPHA:248 |
Familial Exudative Vitreoretinopathy |
|
Abnormal optic disc morphology, Peripheral retinal avascularization, Vitreous floaters, Cataract,... |
ORPHA:891 |
Brittle Cornea Syndrome 1 |
|
Epicanthus, Keratoglobus, Decreased corneal thickness, Keratoconus, Red hair, Abnormal cornea mor... |
OMIM:229200 |
Anterior Segment Dysgenesis 6 |
|
Posterior synechiae of the anterior chamber, Corneal opacity, Developmental glaucoma, Abnormal De... |
OMIM:617315 |
Intellectual Disability, Buenos-Aires Type |
|
High palate, Reduced bone mineral density, Umbilical hernia, Fine hair, Mandibular prognathia, Ab... |
ORPHA:3079 |
Microcephaly 17, Primary, Autosomal Recessive |
|
Low anterior hairline, Seizure, Macrotia, Cerebellar hypoplasia, Thick vermilion border |
OMIM:617090 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Oligodactyly, High palate, Low-set ears, Overlapping toe, Wide anterior fontanel, Short tibia, Po... |
OMIM:201170 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Camptodactyly of finger, Onychogryposis of fingernail, Short thumb, Protruding ear, Finger syndac... |
ORPHA:2251 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Generalized clonic seizure, High palate, Deep philtrum, Low anterior hairline, Generalized myoclo... |
ORPHA:329178 |
Mucolipidosis Iv |
|
Optic atrophy, Corneal opacity, Opacification of the corneal stroma, Retinal degeneration |
OMIM:252650 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Opacification of the corneal ... |
OMIM:217700 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Irregular astigmatism, Corneal stromal edema, Increased corneal thickness, Corneal opacity, Abnor... |
ORPHA:293603 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Rhizomelia, Short tibia, Incomplete cleft of the upper lip, Unicoronal synostosis, Cleft palate, ... |
OMIM:616300 |
Sulfite Oxidase Deficiency, Isolated |
|
Fine hair, Bilateral tonic-clonic seizure, Delayed eruption of teeth, Macrotia, Cerebellar hypopl... |
OMIM:272300 |
Uncombable Hair Syndrome |
|
Patchy alopecia, White hair, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia |
ORPHA:1410 |
Vitreoretinochoroidopathy |
|
Abnormality of chorioretinal pigmentation, Pulverulent cataract, Pigmentary retinopathy, Retinal ... |
OMIM:193220 |
Gómez-López-Hernández Syndrome |
|
Telecanthus, Corneal opacity |
ORPHA:1532 |
Bornholm Eye Disease |
|
Astigmatism, Optic nerve hypoplasia, Abnormality of retinal pigmentation |
OMIM:300843 |
Non Rare In Europe: Idiopathic Anterior Uveitis |
|
Posterior synechiae of the anterior chamber, Increased cup-to-disc ratio, Nuclear cataract, Poste... |
ORPHA:280914 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal erosion, Corneal dystrophy, Palpebral edema, Corneal opacity, Opacification of the cornea... |
OMIM:608470 |
Brittle Cornea Syndrome 2 |
|
Corneal perforation, Megalocornea, Keratoglobus, Decreased corneal thickness, Keratoconus, Sclero... |
OMIM:614170 |
Christianson Syndrome |
|
Generalized-onset seizure, Mandibular prognathia, Thick eyebrow, Adducted thumb, Macrotia, Aplasi... |
ORPHA:85278 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy |
OMIM:271310 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Sparse body hair, Anonychia, Anemia, Enamel hypoplasia, Oral mucosal blisters, Palmoplantar kerat... |
ORPHA:79402 |
Coffin-Siris Syndrome 3 |
|
Inguinal hernia, Thick eyebrow, Cleft palate, Hearing impairment, Short distal phalanx of the 5th... |
OMIM:614608 |
L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Short distal phalanx of finger, Abnormality of the dentition, Hip dysplasia, Mandibular prognathi... |
ORPHA:1858 |
Hall-Riggs Mental Retardation Syndrome |
|
Osteoporosis, Enamel hypoplasia, U-Shaped upper lip vermilion, Hypoplasia of the primary teeth, S... |
OMIM:234250 |
Regional Odontodysplasia |
|
Abnormal dental pulp morphology, Mandibular pain, Carious teeth, Short dental root, Eruption fail... |
ORPHA:83450 |
Bardet-Biedl Syndrome 18 |
|
Cataract, Rod-cone dystrophy, Retinal dystrophy |
OMIM:615995 |
Cerebellofaciodental Syndrome |
|
Low-set ears, Cryptorchidism, Hypoplasia of the pons, Fine hair, Taurodontia, Shortening of all d... |
OMIM:616202 |
Central Retinal Vein Occlusion |
|
Retinal vascular tortuosity, Papilledema, Macular degeneration, Pigmentary retinopathy, Cystoid m... |
ORPHA:411527 |
Rapp-Hodgkin Syndrome |
|
Bifid uvula, Onychogryposis, Cleft palate, Hearing impairment, Narrow mouth, Slow-growing hair, S... |
OMIM:129400 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Proximal placement of thumb, Thick eyebrow, Thin vermilion border, Hirsutism, Cerebellar hypoplas... |
OMIM:212066 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Generalized joint laxity, Agenesis of permanent teeth, Cleft palate, Broad thumb, Narrow mouth, I... |
ORPHA:251028 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Toenail dysplasia, High palate, Low-set ears, Conductive hearing impairment, Synophrys, Posterior... |
OMIM:617877 |
Tietz Syndrome |
|
Abnormal anterior chamber morphology, Hypopigmentation of the skin, Hypopigmentation of hair, Whi... |
ORPHA:42665 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Central posterior corneal opacity, Recurrent corneal erosions, C... |
ORPHA:98964 |
Monilethrix |
|
Nail dysplasia, Brittle hair, Alopecia, Abnormality of hair texture, Nail dystrophy, Sparse hair |
OMIM:158000 |
Keratoconus 1 |
|
Astigmatism, Keratoconus |
OMIM:148300 |
Neovascular Glaucoma |
|
Abnormal uvea morphology, Retinal vascular proliferation, Retinal detachment, Abnormal anterior c... |
ORPHA:94058 |
Hamamy Syndrome |
|
Inguinal hernia, Hip dysplasia, Hypoparathyroidism, Long fingers, Sparse eyebrow, Smooth philtrum... |
OMIM:611174 |
Weill-Marchesani Syndrome 4 |
|
Phakodonesis, Ectopia lentis, Iridodonesis, Shallow anterior chamber, Posterior synechiae of the ... |
OMIM:613195 |
Microphthalmia With Brain And Digit Anomalies |
|
Cataract, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Sclerocornea, Anophthalmia, Micr... |
ORPHA:139471 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Cataract, Abnormal eyelash morphology, Bilateral microphthalmos, Lipomas of eyelids, Microphthalm... |
ORPHA:2399 |
Bullous Dystrophy, Hereditary Macular Type |
|
Abnormality of the nail, Severe short stature, Alopecia totalis |
OMIM:302000 |
Cofs Syndrome |
|
Cataract, Optic atrophy, Microphthalmia, Abnormality of retinal pigmentation |
ORPHA:1466 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia, Coloboma |
OMIM:613703 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Abnormal pinna morphology, Synophrys, Generalized myoclonic seizure, Tapered finger, Horizontal e... |
ORPHA:352530 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Metaphyseal chondrodysplasia, Short lower limbs, Abnormality of the dentition, Abnormal metaphysi... |
ORPHA:2501 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Macroglossia, Camptodactyly, High palate, Hypertrichosis, Broad philtrum, Dental crowding, Spleno... |
OMIM:616354 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Enamel hypoplasia, Palmoplantar keratoderma, Macrotia, Sparse hair, Thin upper lip ve... |
OMIM:613576 |
Trichorhinophalangeal Syndrome Type 1 |
|
Short distal phalanx of finger, Camptodactyly of finger, Protruding ear, Short metatarsal, Fragil... |
ORPHA:77258 |
Xeroderma Pigmentosum, Complementation Group G |
|
Cataract, Microphthalmia |
OMIM:278780 |
Otodental Dysplasia |
|
Agenesis of premolar, Tooth ankylosis, Taurodontia, Enamel hypoplasia, Long philtrum, Delayed eru... |
OMIM:166750 |
Gomez-Lopez-Hernandez Syndrome |
|
Craniosynostosis, High palate, Low-set ears, Agenesis of cerebellar vermis, Malar flattening, Wid... |
OMIM:601853 |
48,Xxyy Syndrome |
|
Chronic otitis media, Decreased testicular size, Inguinal hernia, Cryptorchidism, Hip dysplasia, ... |
ORPHA:10 |
Congenital Varicella Syndrome |
|
Cataract, Microphthalmia |
ORPHA:291 |
Exudative Vitreoretinopathy 5 |
|
Retinal exudate, Tractional retinal detachment, Shallow anterior chamber, Falciform retinal fold,... |
OMIM:613310 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Low-set, posteriorly rotated ears, Cryptorchidism, Abnormal palate morphology, Hydrocephalus, Dee... |
ORPHA:2701 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Choriocapillaris atrophy, Pigmentary retinopathy, Chorioretinal atrophy |
OMIM:215500 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Inguinal hernia, Narrow palate, Joint contracture of the hand, Camptodactyly, Cryptorchidism, Con... |
OMIM:182212 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Chorioretinal dysplasia, Microphthalmia |
OMIM:616335 |
Maxillonasal Dysplasia, Binder Type |
|
Short distal phalanx of finger, Large earlobe, Dental malocclusion |
OMIM:155050 |
Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Abnormality of the dentition, Synophrys, Gingival fibromatosis, Thick eyebrow, Seizure, Delayed e... |
ORPHA:2026 |
Birdshot Chorioretinopathy |
|
Cataract, Vitreous floaters, Abnormal retinal vascular morphology, Epiretinal membrane, Retinal d... |
ORPHA:179 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Fifth finger distal phalanx clinodactyly, Broad long bones, Narrow mouth, Thin vermilion border, ... |
OMIM:257850 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Malar flattening, Rhizomelia, Alopecia, Cleft palate, Seizure, Flared metaphysis, Epiphyseal stip... |
OMIM:215100 |
Corneal Dystrophy And Perceptive Deafness |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:217400 |
Fried Syndrome |
|
High palate, Hydrocephalus, Hearing impairment, Abnormal cerebellum morphology, Macrotia, Short p... |
ORPHA:85335 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal metaphysis morphology, Abnormal cortical bone morphology, Ane... |
ORPHA:1802 |
Van Maldergem Syndrome 2 |
|
Inguinal hernia, Hypoplastic nipples, Hearing impairment, High anterior hairline, Cutaneous finge... |
OMIM:615546 |
Specific Granule Deficiency 2 |
|
Conical tooth, Low-set ears, Nail dysplasia, Tooth malposition, Absent neutrophil specific granul... |
OMIM:617475 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Inguinal hernia, Protruding ear, Broad thumb, Partial absence of cerebellar vermis, Highly arched... |
ORPHA:329224 |
Femoral-Facial Syndrome |
|
Low-set ears, Inguinal hernia, Abnormality of fibula morphology, Hip dysplasia, Cryptorchidism, M... |
ORPHA:1988 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short finger, Joint stiffness, Hypoplastic inferior ilia, Metaphyseal cupping, Metaphyseal wideni... |
OMIM:608940 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Epicanthus, Abnormal retinal vascular morphology, Synophrys, Downslanted palpebral fissures, Hete... |
ORPHA:1390 |
Macular Corneal Dystrophy |
|
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal crystals, Decreased cor... |
ORPHA:98969 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Protruding ear, Dystrophic toenail, Toe syndactyly, Highly arched eyebrow, Carious teeth, Nail dy... |
ORPHA:3253 |
Keratoconus 6 |
|
Keratoconus |
OMIM:614623 |
Keratoconus 5 |
|
Keratoconus |
OMIM:614622 |
Keratoconus 8 |
|
Keratoconus |
OMIM:614628 |
Keratoconus 7 |
|
Keratoconus |
OMIM:614629 |
Primary Condylar Hyperplasia |
|
Macrodontia, Abnormality of the temporomandibular joint, Abnormal mandible condylar process morph... |
ORPHA:477781 |
Larsen-Like Syndrome |
|
Low-set ears, Conductive hearing impairment, Radial deviation of the 4th finger, Malar flattening... |
OMIM:608545 |
Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Alopecia of scalp, Amelogenesis imperfecta, Trichodysplasia |
ORPHA:79129 |
Candidiasis, Familial, 1 |
|
Alopecia |
OMIM:114580 |
Sjogren-Larsson Syndrome |
|
Opacification of the corneal epithelium, Astigmatism, Macular degeneration, Retinal thinning, Mac... |
OMIM:270200 |
Fibular Hemimelia |
|
Oligodactyly, Increased laxity of ankles, Short tibia, Toe syndactyly, Short toe, Fibular aplasia... |
ORPHA:93323 |
Renpenning Syndrome |
|
Decreased testicular size, Joint stiffness, Malar flattening, Round ear, Mandibular prognathia, A... |
ORPHA:3242 |
Frontometaphyseal Dysplasia 1 |
|
Camptodactyly of finger, Selective tooth agenesis, Cleft palate, Hearing impairment, Carpal synos... |
OMIM:305620 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Low-set ears, Posteriorly rotated ears, Delayed eruption of permanent teeth, Rocker bottom foot, ... |
OMIM:618506 |
Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Abnormal macular morphology, Choroi... |
ORPHA:97341 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cataract, Epicanthus, Chorioretinal coloboma |
ORPHA:2489 |
Coffin-Siris Syndrome 7 |
|
Hypoplastic fifth toenail, Low-set ears, Broad philtrum, Posteriorly rotated ears, Microdontia, T... |
OMIM:618027 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Infantile spasms, Low-set ears, Synophrys, Posteriorly rotated ears, Low posterior hairline, Tent... |
OMIM:619320 |
Dentinogenesis Imperfecta |
|
Knee joint hypermobility, Grayish enamel, Finger joint hypermobility, Abnormal dental pulp morpho... |
ORPHA:49042 |
Otoonychoperoneal Syndrome |
|
Low-set ears, Abnormality of the ear, Aplasia/Hypoplasia of the fibula, Posteriorly rotated ears,... |
OMIM:259780 |
Retinitis Pigmentosa 2 |
|
Cataract, Pigmentary retinopathy, Fundus atrophy, Bull's eye maculopathy, Rod-cone dystrophy, Cho... |
OMIM:312600 |
Congenital Rubella Syndrome |
|
Cataract, Microphthalmia, Abnormality of retinal pigmentation, Corneal opacity, Aplasia/Hypoplasi... |
ORPHA:290 |
Senior-Loken Syndrome |
|
Retinal dystrophy, Cataract, Abnormality of retinal pigmentation |
ORPHA:3156 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Conical tooth, Thin toenail, Abnormality of the dentition, Agenesis of permanent teeth, Fine hair... |
ORPHA:2228 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Mandibular prognathia, Diaphyseal ... |
ORPHA:3416 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Nail pits, Alopecia, Ridged nail, Nail dystrophy |
OMIM:601705 |
Stuve-Wiedemann Syndrome 1 |
|
Clubbing, Pathologic fracture, Absent patellar reflexes, Contracture of the proximal interphalang... |
OMIM:601559 |
Chung-Jansen Syndrome |
|
High palate, Cryptorchidism, Hip dysplasia, Synophrys, Thick eyebrow, Tapered finger, Long philtr... |
OMIM:617991 |
Man1B1-Cdg |
|
Low-set ears, Eclabion, Long eyelashes, Long eyebrows, Malar flattening, Seizure, Sparse eyebrow,... |
ORPHA:397941 |
Filippi Syndrome |
|
2-4 toe syndactyly, Cryptorchidism, Hypertrichosis, Serrated incisors, Frontal hirsutism, Abnorma... |
OMIM:272440 |
Nail-Patella Syndrome |
|
Cataract, Lester's sign, Microphakia, Ptosis, Keratoconus, Microcornea, Antecubital pterygium |
OMIM:161200 |
Frontofacionasal Dysplasia |
|
Cataract, Brushfield spots, Telecanthus, Iris coloboma, Upper eyelid coloboma, Microphthalmia, Ab... |
ORPHA:1791 |
Lethal Faciocardiomelic Dysplasia |
|
Radial club hand, Short thumb, Hypoplasia of the radius, Short tibia, Narrow mouth, Microretrogna... |
ORPHA:1972 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Abnormal fundus autofluorescence imaging, Hyporeflective spaces on macular OCT, Retinal atrophy, ... |
ORPHA:59181 |
Endosteal Hyperostosis, Worth Type |
|
Generalized osteosclerosis, Craniofacial hyperostosis, Abnormal cortical bone morphology, Mandibu... |
ORPHA:2790 |
Pili Torti |
|
Abnormal eyebrow morphology, Abnormality of the nail, Brittle hair, Alopecia, Abnormality of hair... |
ORPHA:2889 |
Momo Syndrome |
|
Congenital pseudoarthrosis of the clavicle, Long foot, High palate, Hyperconvex nail, Taurodontia... |
ORPHA:2563 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Cataract, Corneal arcus |
OMIM:618463 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Iris coloboma, Peripheral retinal atrophy, Absent foveal reflex, Microcornea, Retinal dystrophy |
OMIM:615147 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Low-set ears, Malar flattening, Osteoporosis, Amelogenesis imperfecta, Posteriorly rotated ears, ... |
OMIM:614727 |
Bartsocas-Papas Syndrome 2 |
|
Axillary pterygium, Microphthalmia, Popliteal pterygium, Corneal opacity, Ankyloblepharon, Antecu... |
OMIM:619339 |
Eiken Syndrome |
|
Oligodontia, Flattened epiphysis, Febrile seizure (within the age range of 3 months to 6 years), ... |
OMIM:600002 |
Microphthalmia, Syndromic 5 |
|
Cataract, Retinal dystrophy, Optic nerve hypoplasia, Microphthalmia, Anophthalmia, Microcornea, C... |
OMIM:610125 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Low-set ears, Retrognathia, Metaphyseal widening, Wide anterior fontanel, Posteriorly rotated ear... |
OMIM:263210 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Low-set ears, Abnormality of the dentition, Protruding ear, Supernumerary nipple, Pes cavus, Post... |
ORPHA:3224 |
Pseudopseudohypoparathyroidism |
|
Short metatarsal, Osteoporosis, Short metacarpal, Enamel hypoplasia, Pseudohypoparathyroidism, De... |
OMIM:612463 |
Takenouchi-Kosaki Syndrome |
|
Inguinal hernia, Proximal placement of thumb, Widely spaced teeth, Highly arched eyebrow, Sparse ... |
OMIM:616737 |
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia |
|
High palate, Mandibular prognathia, Tapered finger, Long fingers, Dental malocclusion |
OMIM:618292 |
Braddock-Carey Syndrome 1 |
|
Camptodactyly, Curly hair, Pierre-Robin sequence, Posteriorly rotated ears, Enamel hypoplasia, Cl... |
OMIM:619980 |
Osteochondrosis Of The Metatarsal Bone |
|
Sclerosis of foot bone, Structural foot deformity, Joint stiffness, Abnormality of the fifth meta... |
ORPHA:564003 |
Scheie Syndrome |
|
Corneal opacity, Retinal degeneration |
OMIM:607016 |
Lissencephaly 6 With Microcephaly |
|
Synophrys, Widely spaced teeth, Tapered finger, Seizure, Macrotia, Thin upper lip vermilion, Cere... |
OMIM:616212 |
Temtamy Syndrome |
|
Telecanthus, Chorioretinal coloboma, Iris coloboma, Microphthalmia |
ORPHA:1777 |
Localized Junctional Epidermolysis Bullosa |
|
Atrophic, patchy alopecia, Sparse axillary hair, Dental enamel pits, Dystrophic fingernails, Enam... |
ORPHA:251393 |
Macdermot-Winter Syndrome |
|
Camptodactyly of finger, Posteriorly rotated ears, Low anterior hairline, Highly arched eyebrow, ... |
OMIM:247990 |
Aniridia 2 |
|
Cataract, Iris coloboma, Lens subluxation, Aniridia, Optic atrophy |
OMIM:617141 |
Kabuki Syndrome 2 |
|
Hip dislocation, Protruding ear, Cleft palate, Hearing impairment, Highly arched eyebrow, Short 5... |
OMIM:300867 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
High palate, Cerebellar atrophy, Enamel hypoplasia, Retrognathia |
OMIM:617915 |
Slc35A2-Cdg |
|
Craniosynostosis, Infantile spasms, Camptodactyly of finger, Limb joint contracture, Abnormal lon... |
ORPHA:356961 |
Glaucoma 3, Primary Congenital, E |
|
Megalocornea, Corneal stromal edema, Increased cup-to-disc ratio |
OMIM:617272 |
Bjornstad Syndrome |
|
Brittle hair, Hair shafts flattened at irregular intervals and twisted through 180 degrees about ... |
OMIM:262000 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Reduced bone mineral density, Inguinal hernia, Delayed ossification of carpal bones, Posteriorly ... |
OMIM:618392 |
Schuurs-Hoeijmakers Syndrome |
|
Long foot, Diastema, Long eyelashes, Cryptorchidism, Low-set ears, Synophrys, Low anterior hairli... |
OMIM:615009 |
Gorham-Stout Disease |
|
Patchy reduction of bone mineral density, Osteolysis, Abnormality of the internal auditory canal,... |
ORPHA:73 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal guttata, Corneal stromal edema, Corneal opacity |
OMIM:613267 |
Hypertrichosis Lanuginosa Congenita |
|
Abnormality of the dentition, Thick eyebrow, Hearing impairment, Delayed eruption of teeth, Gingi... |
ORPHA:2222 |
Oligodontia |
|
Oligodontia, Widely spaced teeth, Short dental root, Agenesis of mandibular premolar, Delayed eru... |
ORPHA:99798 |
Retinitis Pigmentosa |
|
Cataract, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Keratoconus,... |
ORPHA:791 |
Osteoporosis-Pseudoglioma Syndrome |
|
Retinal detachment, Exudative retinopathy, Microphthalmia, Exudative vitreoretinopathy, Abnormal ... |
ORPHA:2788 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Nicolaides-Baraitser Syndrome |
|
Status epilepticus, Highly arched eyebrow, Thin vermilion border, Smooth philtrum, Sparse hair, B... |
ORPHA:3051 |
Oculomaxillofacial Dysostosis |
|
Abnormal eyelash morphology, Upslanted palpebral fissure, Sparse or absent eyelashes, Corneal opa... |
ORPHA:1794 |
Cranioectodermal Dysplasia 4 |
|
Short distal phalanx of finger, Hip dysplasia, Sagittal craniosynostosis, Broad phalanx of the to... |
OMIM:614378 |
Hypotrichosis 5 |
|
Absent axillary hair, Sparse eyelashes, Abnormality of the nail, Alopecia, Abnormal sweat gland m... |
OMIM:612841 |
Eiken Syndrome |
|
Epiphyseal dysplasia, Thin bony cortex, Abnormal bone ossification, Abnormal fingertip morphology... |
ORPHA:79106 |
Choroideremia |
|
Hypopigmentation of the fundus, Granular macular appearance, Choroideremia, Pigmentary retinopath... |
OMIM:303100 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Low-set ears, Diastema, Attached earlobe, Malar flattening, Dental malocclusion, Macrotia, Microg... |
ORPHA:436245 |
Mulibrey Nanism |
|
Hypoplastic frontal sinuses, Enamel hypoplasia, Absent frontal sinuses, Dental crowding, Dental m... |
OMIM:253250 |
Intellectual Developmental Disorder, X-Linked 58 |
|
Dental malocclusion, Short philtrum, Small nail |
OMIM:300210 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndactyly, Abnormal cortic... |
ORPHA:3152 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
High palate, Decreased testicular size, Hip dysplasia, Cerebellar dysplasia, Bilateral tonic-clon... |
ORPHA:457240 |
Short Rib-Polydactyly Syndrome |
|
Abnormal long bone morphology, Polydactyly, Absent or minimally ossified vertebral bodies, Short ... |
ORPHA:1505 |
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Alopecia, Nail dystrophy |
OMIM:616487 |
Acrootoocular Syndrome |
|
Grayish enamel, Short toe, Supernumerary tooth, Conductive hearing impairment, Anodontia, Abnorma... |
ORPHA:2980 |
Central Areolar Choroidal Dystrophy |
|
Full-thickness macular hole, Macular atrophy, Hypopigmentation of the fundus, Foveal photorecepto... |
ORPHA:75377 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Rickets, Thin bony cortex, Secondary hyperparathyroidism, Bulging epiphyses, Hypocalcemic seizure... |
OMIM:264700 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Cataract, Generalized hypopigmentation, Microphthalmia, Shallow orbits, Iris transillumination de... |
OMIM:617306 |
Charlie M Syndrome |
|
Tooth agenesis, Abnormal toenail morphology, Finger syndactyly, Abnormal metacarpal morphology, A... |
ORPHA:1406 |
Nance-Horan Syndrome |
|
Cataract, Retinal detachment, Microcornea, Microphthalmia |
ORPHA:627 |
Pontocerebellar Hypoplasia, Type 3 |
|
High palate, Low-set ears, Hypoplasia of the pons, High, narrow palate, Hearing impairment, Seizu... |
OMIM:608027 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Uplifted earlobe, Open mouth, Status epilepticus, Short upper lip, Retrocerebellar cyst, Cryptorc... |
ORPHA:364028 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Hip dysplasia, Abnormal epiphysis morphology, Short middle phalanx of finger, Short middle phalan... |
ORPHA:63442 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Camptodactyly, Hypoplasia of teeth, Osteolysis involving bones of the lower limbs, Syndactyly, Ac... |
ORPHA:88630 |
Idiopathic Uveal Effusion Syndrome |
|
Subretinal fluid, Exudative retinal detachment, Abnormal anterior eye segment morphology, Microph... |
ORPHA:209956 |
Oliver Syndrome |
|
Postaxial foot polydactyly, Camptodactyly of finger, High palate, Supernumerary nipple, Hyperconv... |
ORPHA:2920 |
Retinitis Pigmentosa 86 |
|
Cortical cataract, Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the ret... |
OMIM:618613 |
Weaver Syndrome |
|
Inguinal hernia, Calcaneovalgus deformity, Pes cavus, Bilateral tonic-clonic seizure, Broad thumb... |
OMIM:277590 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Craniosynostosis, Metaphyseal chondrodysplasia, Inguinal hernia, Hallux valgus, Cryptorchidism, L... |
ORPHA:166035 |
X-Linked Endothelial Corneal Dystrophy |
|
Nuclear cataract, Abnormal corneal endothelium morphology, Corneal opacity, Band keratopathy |
ORPHA:293621 |
Microphthalmia, Syndromic 8 |
|
Blepharophimosis, Microcornea, Microphthalmia, Short palpebral fissure |
OMIM:601349 |
Crandall Syndrome |
|
Sparse body hair, Fine hair, Brittle hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Pili torti |
ORPHA:202 |
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Thick eyebrow, Osteopenia, High, narrow palate, Seizure, Sparse eyebrow, Macrotia, Wide mouth, Th... |
OMIM:617268 |
Van Maldergem Syndrome 1 |
|
Cutaneous finger syndactyly, Camptodactyly, Conductive hearing impairment, Irregular dentition, M... |
OMIM:601390 |
Retinitis Pigmentosa 46 |
|
Pigmentary retinopathy, Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrop... |
OMIM:612572 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Amelogenesis imperfecta, Taurodontia, Enamel hypoplasia, Generalized microdontia |
OMIM:104530 |
Adams-Oliver Syndrome 2 |
|
Low-set ears, Retrocerebellar cyst, Protruding ear, Hydrocephalus, Low anterior hairline, Alopeci... |
OMIM:614219 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Open mouth, High palate, Low-set ears, Prominent crus of helix, Synophrys, Widow's peak, Mandibul... |
OMIM:617804 |
Acrofacial Dysostosis, Weyers Type |
|
Conical tooth, Toenail dysplasia, Abnormality of the dentition, Nail dystrophy, Overlapping finge... |
ORPHA:952 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Congenital hip dislocation, Abnormal pinna morphology, Calcaneovalgus deformity, Equinovarus defo... |
ORPHA:3078 |
Oculodentodigital Dysplasia |
|
Hip dislocation, Selective tooth agenesis, Fragile nails, Cleft palate, Slow-growing hair, Cariou... |
OMIM:164200 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Macular atrophy, Iris coloboma, Flat cornea, Increased axial length of the globe, Shallow anterio... |
OMIM:602499 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Down-sloping shoulders, Camptodactyly, Widely spaced teeth, Knee flexion contracture, Microdontia... |
OMIM:619694 |
Kniest Dysplasia |
|
Cataract, Rhegmatogenous retinal detachment, Bilateral ptosis, Vitreoretinopathy, Retinal detachm... |
ORPHA:485 |
Developmental And Epileptic Encephalopathy 64 |
|
Status epilepticus, Long eyelashes, Widely spaced teeth, Low anterior hairline, Thick eyebrow, Hi... |
OMIM:618004 |
Cleft Palate-Large Ears-Small Head Syndrome |
|
Short distal phalanx of finger, Ulnar deviation of finger, Protruding ear, Hypoplastic toenails, ... |
ORPHA:2013 |
Ramon Syndrome |
|
Osteolysis, Conductive hearing impairment, Gingival fibromatosis, Seizure, Narrow palate, Delayed... |
ORPHA:3019 |
Sjögren-Larsson Syndrome |
|
Corneal erosion, Macular degeneration, Abnormality of retinal pigmentation, Retinopathy, Generali... |
ORPHA:816 |
Aniridia 1 |
|
Cataract, Hypoplasia of the fovea, Ectopia pupillae, Retinal vascular tortuosity, Ectopia lentis,... |
OMIM:106210 |
Rhizomelic Chondrodysplasia Punctata |
|
Sparse body hair, Abnormality of the dentition, Abnormal metaphysis morphology, Limb undergrowth,... |
ORPHA:177 |
Intellectual Developmental Disorder, X-Linked 9 |
|
Seizure, Short distal phalanx of finger, Macrotia, Thick lower lip vermilion |
OMIM:309549 |
Galloway-Mowat Syndrome 8 |
|
Seizure, Abnormal cerebellum morphology, Enamel hypoplasia, Hearing impairment |
OMIM:618349 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Ectopia pupillae, Cryptophthalmos, Epicanthus, Long eyelashes, Microphthalmia, Scleroco... |
OMIM:615877 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Long philtrum, Mandibular prognathia, Macrotia, Small hand |
OMIM:616269 |
Isolated Aniridia |
|
Cataract, Aniridia, Aplasia/Hypoplasia of the macula, Peters anomaly |
ORPHA:250923 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Microphthalmia, Leukocoria |
OMIM:257910 |
Ck Syndrome |
|
High palate, Retrognathia, Abnormal cortical bone morphology, Malar flattening, Posteriorly rotat... |
OMIM:300831 |
Cerebellar-Facial-Dental Syndrome |
|
Inferior cerebellar vermis hypoplasia, Inguinal hernia, Cryptorchidism, Low-set ears, Hypoplasia ... |
ORPHA:444072 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Cataract, Vitreous floaters, Peripheral vitreoretinal degeneration, Retinal detachment, Lattice r... |
OMIM:614292 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Ectopia pupillae, Hypoplasia of the iris, Posterior embryotoxon, Posterior synechiae of the anter... |
OMIM:602482 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets, Rickets of the lower limbs, Thin bony cortex, Genu varum, Bulging epiphyses, Bowing of t... |
OMIM:600785 |
Bilateral Acute Depigmentation Of The Iris |
|
Hypoplastic iris stroma, Abnormal corneal endothelium morphology, Abnormal anterior chamber morph... |
ORPHA:69736 |
Monosomy 18P |
|
Tooth malposition, Protruding ear, Abnormal antihelix morphology, Low posterior hairline, Holopro... |
ORPHA:1598 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Hypohidrosis, Fine hair, Dystrophic fingernails, Alopecia, Dystrophic toenail, Sparse eyebrow, Sp... |
ORPHA:1882 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Pigmentary retinopathy, Posterior synechiae of the anterior chamber, Retinal dysplasia, Developme... |
OMIM:613154 |
Kbg Syndrome |
|
Oligodontia, Cryptorchidism, Vertebral fusion, Synophrys, Thick eyebrow, Cleft palate, Cutaneous ... |
ORPHA:2332 |
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
|
Low-set ears, Malar flattening, High, narrow palate, Broad thumb, Hypermobility of interphalangea... |
ORPHA:3433 |
Acrocapitofemoral Dysplasia |
|
Short distal phalanx of finger, Short tibia, Small finger, Micromelia, Flared iliac wing, Radial ... |
OMIM:607778 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Conductive hearing impairment, Abnormality of the first metatarsal bone, Metaphyse... |
OMIM:135100 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Low-set ears, Preaxial polydactyly, Postaxial polydactyly, Short ribs, Cleft lip, Short tibia, Wi... |
OMIM:617925 |
Edict Syndrome |
|
Astigmatism, Anterior polar cataract, Hypoplasia of the iris, Keratoconus, Microcornea |
OMIM:614303 |
Cleidocranial Dysplasia |
|
Chronic otitis media, Dystrophic toenail, Cleft palate, Hearing impairment, Supernumerary tooth, ... |
ORPHA:1452 |
Congenital Disorder Of Glycosylation, Type Id |
|
High palate, Clinodactyly of the 5th toe, Arthrogryposis multiplex congenita, Nail dysplasia, Bif... |
OMIM:601110 |
Rothmund-Thomson Syndrome |
|
Selective tooth agenesis, Short thumb, Abnormal trabecular bone morphology, Supernumerary tooth, ... |
ORPHA:2909 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Widely spaced teeth, Seizure, Macrotia, Micrognathia, Clinodactyly, Wide mouth |
OMIM:300934 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity |
ORPHA:2370 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Generalized osteoporosis, Short distal phalanx of finger, Lack of facial subcutaneous fat, Select... |
ORPHA:2959 |
Harel-Yoon Syndrome |
|
Developmental cataract, Optic atrophy, Corneal opacity, Upslanted palpebral fissure |
OMIM:617183 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Prominent antihelix, Joint contracture of the 5th finger, Tapered finger, Long fingers, Long phil... |
OMIM:614407 |
Arthrogryposis, Distal, Type 5 |
|
Epicanthus, Keratoglobus, Astigmatism, Abnormality of retinal pigmentation, Keratoconus, Blepharo... |
OMIM:108145 |
49,Xxxxy Syndrome |
|
Chronic otitis media, Hip dislocation, Cleft palate, Carious teeth, Down-sloping shoulders, Crypt... |
ORPHA:96264 |
Fanconi Anemia, Complementation Group S |
|
Long eyelashes, Proximal placement of thumb, Anemia, Low anterior hairline, Ovarian carcinoma, Ma... |
OMIM:617883 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Low-set, posteriorly rotated ears, Malar flattening, Abnormality of dental morphology, Maxillozyg... |
ORPHA:2972 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Protruding ear, Seizure, Narrow palate, Macrotia, Talipes equinovarus, Cerebellar atrophy, Joint ... |
OMIM:617481 |
Vitreoretinal Degeneration, Snowflake Type |
|
Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Corneal guttata, Retina... |
OMIM:193230 |
Amelogenesis Imperfecta, Type Iiia |
|
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion |
OMIM:130900 |
Retinitis Pigmentosa 77 |
|
Retinal atrophy, Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of r... |
OMIM:617304 |
Short Stature, Dauber-Argente Type |
|
Reduced bone mineral density, Decreased fibular diameter, Osteopenia, Long fingers, Delayed erupt... |
OMIM:619489 |
Familial Drusen |
|
Reticular pigmentary degeneration, Macular hemorrhage, Macular atrophy, Peripapillary chorioretin... |
ORPHA:75376 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Abnormality of the first metatarsal bone, Anemia, Synostosis of joints, Alopecia, ... |
ORPHA:337 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Microphthalmia, Abnormality of retinal pigmentation |
ORPHA:1574 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion |
OMIM:617217 |
Intellectual Disability And Myopathy Syndrome |
|
Limited elbow extension, Congenital hip dislocation, Achilles tendon contracture, Dental malocclu... |
OMIM:619719 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Nail dysplasia, Anemia, Enamel hypoplasia, Increased connective tissue, Carious teeth, Scarring a... |
OMIM:226670 |
Dermatitis, Atopic |
|
Cataract, Keratoconus, Conjunctivitis |
OMIM:603165 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Patellar aplasia, Wide capital femoral epiphyses, High palate, Patellar hypoplasia, Patellar disl... |
OMIM:147891 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Nail dysplasia, Syndactyly, Enamel hypoplasia, Carious teeth, Nail dystrophy, Atrophic scars |
OMIM:226700 |
Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Abnormal hair quantity, Camptodactyly of finger, Abnormality of the dentition, Abnormal eyebrow m... |
ORPHA:3220 |
Anterior Segment Dysgenesis 3 |
|
Ectopia pupillae, Abnormal iris vasculature, Hypoplastic iris stroma, Posterior embryotoxon, Axen... |
OMIM:601631 |
Craniometadiaphyseal Dysplasia |
|
Absent paranasal sinuses, High palate, Low-set ears, Genu varum, Malar flattening, Wide anterior ... |
OMIM:269300 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Clinodactyly, Seizure, Short philtrum, Macrotia |
OMIM:300928 |
Orofaciodigital Syndrome Type 2 |
|
Y-shaped metacarpals, Protruding ear, Polysyndactyly of hallux, Short tibia, Bilateral tonic-clon... |
ORPHA:2751 |
Retinitis Pigmentosa 56 |
|
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation o... |
OMIM:613581 |
Alopecia-Intellectual Disability Syndrome |
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Sparse body hair, Alopecia, Hearing impairment, Seizure, Split hand, Macrotia, Flexion contractur... |
ORPHA:2850 |
Microphthalmia, Isolated 1 |
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Anophthalmia, Microphthalmia |
OMIM:251600 |
Nasopalpebral Lipoma-Coloboma Syndrome |
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Upper eyelid coloboma, Lipomas of eyelids, Absent lacrimal punctum, Microphthalmia, Conjunctival ... |
OMIM:167730 |
Leri-Weill Dyschondrosteosis |
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High palate, Abnormality of the humerus, Abnormal metatarsal morphology, Abnormal carpal morpholo... |
OMIM:127300 |
Robinow Syndrome, Autosomal Dominant 2 |
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Short distal phalanx of finger, Oligodontia, Calvarial osteosclerosis, Cleft palate, Hearing impa... |
OMIM:616331 |
Retinitis Pigmentosa 83 |
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Vitreous floaters, Cystoid macular edema, Asteroid hyalosis, Bone spicule pigmentation of the ret... |
OMIM:618173 |
Kerion Celsi |
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Alopecia |
ORPHA:499 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
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Abnormal cortical bone morphology, Pathologic fracture, Upper limb undergrowth, Limitation of joi... |
ORPHA:166277 |
Spondyloepiphyseal Dysplasia Congenita |
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Reduced bone mineral density, Laryngotracheomalacia, Flat acetabular roof, Osteoporosis, Dysplasi... |
ORPHA:94068 |
8P Inverted Duplication/Deletion Syndrome |
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Positional foot deformity, Abnormality of dental eruption, Aplasia/Hypoplasia of the gallbladder,... |
ORPHA:96092 |
Junctional Epidermolysis Bullosa Inversa |
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Anonychia, Anemia, Enamel hypoplasia, Oral mucosal blisters, Palmoplantar keratoderma, Carious te... |
ORPHA:79405 |
48,Xxxy Syndrome |
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Chronic otitis media, Inguinal hernia, Hip dislocation, Cleft palate, Carious teeth, Down-sloping... |
ORPHA:96263 |
Hajdu-Cheney Syndrome |
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Inguinal hernia, Pathologic fracture, Thick eyebrow, Narrow mouth, Hirsutism, Large earlobe, Prem... |
OMIM:102500 |
Microphthalmia With Limb Anomalies |
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Hip dislocation, Abnormal eyebrow morphology, Short tibia, Cleft palate, Toe syndactyly, Broad th... |
ORPHA:1106 |
Exfoliation Syndrome |
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Cataract, Mydriasis, Phakodonesis, Abnormal lens morphology, Iris hypoperfusion, Anisocoria, Pigm... |
OMIM:177650 |
Auriculocondylar Syndrome |
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Bifid uvula, Difficulty in tongue movements, Abnormality of the temporomandibular joint, Cleft pa... |
ORPHA:137888 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
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Cryptorchidism, Generalized joint laxity, Synophrys, Tapered finger, Seizure, Recurrent otitis me... |
ORPHA:589905 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
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Low-set ears, Sparse eyelashes, Hypoplastic toenails, Sparse eyebrow, Natal tooth, Micrognathia, ... |
OMIM:616901 |
Syndactyly Type 4 |
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Camptodactyly of finger, Hand polydactyly, Short tibia, Toe syndactyly, 1-5 finger syndactyly, Li... |
ORPHA:93405 |
Tricho-Retino-Dento-Digital Syndrome |
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Juvenile cataract, Abnormality of retinal pigmentation |
ORPHA:1264 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
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Increased bone mineral density, High palate, Abnormal diaphysis morphology, Malar flattening, Cur... |
ORPHA:85184 |
Gombo Syndrome |
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Microphthalmia |
OMIM:233270 |
Retinitis Pigmentosa 36 |
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Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ... |
OMIM:610599 |
Mucolipidosis Type Iii |
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Corneal opacity |
ORPHA:577 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
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Telecanthus, Aniridia, Corneal opacity, Developmental glaucoma |
ORPHA:1064 |
Amelogenesis Imperfecta, Type Ij |
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Widely spaced teeth, Amelogenesis imperfecta, Enamel hypoplasia, Carious teeth, Increased overbite |
OMIM:617297 |
Zika Virus Disease |
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Abnormal optic disc morphology, Macular atrophy, Iris coloboma, Optic disc hypoplasia, Retinal pi... |
ORPHA:448237 |
Developmental And Epileptic Encephalopathy 66 |
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Status epilepticus, Focal-onset seizure, Widely spaced teeth, Bilateral tonic-clonic seizure, Foc... |
OMIM:618067 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
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Synophrys, Downslanted palpebral fissures, Ectropion, Thick eyebrow, Conjunctivitis, Long palpebr... |
OMIM:602562 |
Pelvis-Shoulder Dysplasia |
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Optic disc coloboma, Microphthalmia, Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
Moynahan Syndrome |
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Sparse hair, Alopecia, Short stature |
ORPHA:2574 |
Retinitis Pigmentosa 10 |
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Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of re... |
OMIM:180105 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
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Seizure, Macrotia, Micrognathia |
ORPHA:397933 |
17Q11.2 Microduplication Syndrome |
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Malar flattening, Enamel hypoplasia, Seizure, Sparse eyebrow, Thin vermilion border, Abnormal den... |
ORPHA:139474 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
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Cataract, Aniridia, Microcornea |
OMIM:106230 |
Aniridia-Intellectual Disability Syndrome |
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Cataract, Ectopia lentis, Aniridia, Optic nerve hypoplasia |
ORPHA:1068 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
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