Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Abnormality of skin pigmentation, Cataract, Hearing impairment |
OMIM:300719 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Generalized hyperpigmentation, Cataract, Optic atrophy |
ORPHA:2253 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Abnormal antihelix morphology, Cataract, Chorioretinal coloboma, Hearing impairment |
OMIM:274205 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Sensorineural hearing impairment, Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic disc pallor, Cataract, Tremor, Optic atrophy, Hearing impairment |
OMIM:165300 |
Galactosialidosis |
|
Corneal opacity, Hearing impairment |
ORPHA:351 |
Mucous Membrane Pemphigoid |
|
Corneal opacity, Gingivitis, Oral mucosal blisters |
ORPHA:46486 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Spastic Paraparesis And Deafness |
|
Tremor, Cataract, Hearing impairment |
OMIM:312910 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, B... |
ORPHA:1473 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity, Median cleft palate |
ORPHA:2432 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Cleft palate |
ORPHA:90654 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Nathalie Syndrome |
|
Sensorineural hearing impairment, Cataract |
ORPHA:2663 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Cataract 21, Multiple Types |
|
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... |
OMIM:610202 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Sensorineural hearing impairment, Iris cyst, Optic atrophy |
OMIM:620086 |
Winchester Syndrome |
|
Corneal opacity, Gingival overgrowth |
OMIM:277950 |
Otodental Syndrome |
|
Lens coloboma, Microcornea, Periodontitis, Abnormal dental pulp morphology, Iris coloboma, Abnorm... |
ORPHA:2791 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Galactosemia Iv |
|
Cataract, Hypergalactosemia |
OMIM:618881 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
X-Linked Retinoschisis |
|
Cataract |
ORPHA:792 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... |
OMIM:309300 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Peroxisome Biogenesis Disorder 10A (Zellweger) |
|
Cataract, High palate, Micrognathia |
OMIM:614882 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, Chorioretinal colob... |
OMIM:601706 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Decreased HDL cholesterol concentration, Corneal arcus, Cataract |
OMIM:618463 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Corneal opacity, Thin vermilion border, Narrow mouth, Short nose |
ORPHA:2370 |
Galactosemia Ii |
|
Cataract, Hypergalactosemia |
OMIM:230200 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
2Q24 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Cataract, Abnormality iris morphology, Cleft palate, Coloboma,... |
ORPHA:1617 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Sensorineural hearing impairment, Cataract, Developmental cataract |
OMIM:613076 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity |
ORPHA:1980 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Cleft upper lip, Cleft palate, Chorioretinal coloboma, Iris coloboma, Hearing impairment |
OMIM:120433 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Spastic Paraparesis-Deafness Syndrome |
|
Sensorineural hearing impairment, Cataract |
ORPHA:2815 |
Corneal Dystrophy, Epithelial Basement Membrane |
|
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions |
OMIM:121820 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Cataract, Hand tremor, Hearing impairment |
ORPHA:401830 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract |
OMIM:156850 |
Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... |
ORPHA:98960 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
Harel-Yoon Syndrome |
|
Mandibular prognathia, Corneal opacity, Micrognathia, Optic atrophy, Developmental cataract, Dyst... |
OMIM:617183 |
Gómez-López-Hernández Syndrome |
|
Thin vermilion border, Corneal opacity, Low-set ears |
ORPHA:1532 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Mandibular prognathia, Retinal detachment, Thin upper lip vermilion, Cataract, Corneal opacity, C... |
OMIM:152950 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
Corneal Dystrophy And Perceptive Deafness |
|
Sensorineural hearing impairment, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Mucolipidosis Iv |
|
Corneal opacity, Optic atrophy, Opacification of the corneal stroma, Dystonia, Retinal degeneration |
OMIM:252650 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Cataract, Elevated circulating creatine kinase concentration |
OMIM:609115 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Kahrizi Syndrome |
|
Cataract, Thick vermilion border, Iris coloboma, Wide nasal bridge |
OMIM:612713 |
Ring Dermoid Of Cornea |
|
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
Erythrokeratodermia Variabilis |
|
Cataract, Corneal opacity, Hypermelanotic macule, Protruding ear, Irregular hyperpigmentation, He... |
ORPHA:317 |
Alpha-Mannosidosis |
|
Mandibular prognathia, Craniofacial hyperostosis, Cataract, Corneal opacity, Open bite, Dental ma... |
ORPHA:61 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... |
OMIM:610256 |
Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent... |
OMIM:136120 |
Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions |
OMIM:217800 |
Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract |
OMIM:619813 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
Short Syndrome |
|
Posterior embryotoxon, Corneal opacity, Abnormal dental enamel morphology, Abnormality of the den... |
ORPHA:3163 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Attached earlobe, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial a... |
OMIM:616108 |
Mucolipidosis Type Iii |
|
Craniofacial hyperostosis, Corneal opacity, Cleft palate |
ORPHA:577 |
Nathalie Syndrome |
|
Cataract, Hearing impairment |
OMIM:255990 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Cataract, Microcornea, High palate, Narrow mouth, Retrognathia |
ORPHA:2528 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Corneal opacity, Posteriorly rotated ears, Micrognathia, Keratitis, Wide nasal bridge, Wide mouth... |
OMIM:602562 |
Charcot-Marie-Tooth Disease Type 1B |
|
Decreased nerve conduction velocity, Abnormal pupil morphology, Elevated circulating creatine kin... |
ORPHA:101082 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cataract, Abnormal antihelix morphology, Chorioretinal coloboma, Hypoplasia of the antihelix, Hea... |
ORPHA:2489 |
Wagner Vitreoretinopathy |
|
Cataract, Retinal pigment epithelial atrophy, Optic atrophy, Chorioretinal atrophy, Peripheral tr... |
OMIM:143200 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
EEG abnormality, Corneal opacity, Developmental cataract |
OMIM:618815 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Cataract, Corneal opacity, Elevated circulating creatine kinase concentration... |
OMIM:613153 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type |
|
Malar flattening, Cataract, Cleft palate |
OMIM:300261 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Chorioretinal colobom... |
ORPHA:231736 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:608470 |
X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, L... |
OMIM:310600 |
Rutherfurd Syndrome |
|
Delayed eruption of primary teeth, Failure of eruption of permanent teeth, Corneal dystrophy, Opa... |
OMIM:180900 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Thin upper lip vermilion, Abnormal auditory evoked potentials, Astigmatism, Hi... |
OMIM:617523 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Coloboma, Hypoplastic iris ... |
ORPHA:2334 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Cataract, Abnormality of the dentition |
ORPHA:2278 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
Scheie Syndrome |
|
Mandibular prognathia, Corneal opacity, Retinal degeneration |
OMIM:607016 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract, Hyperbilirubinemia |
OMIM:618660 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
Leukoencephalopathy With Vanishing White Matter 2 |
|
Cataract, Optic atrophy |
OMIM:620312 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Rieger anomaly, Abnormal auditory evoked potentials, Hypoplasia of the maxilla, Sensorineural hea... |
OMIM:109120 |
Bardet-Biedl Syndrome 18 |
|
Cataract |
OMIM:615995 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Mandibular prognathia, Cataract, Corneal opacity, Optic nerve hypoplasia, Micrognathia, Optic atr... |
ORPHA:496790 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Irregular dentition, Cataract, Macular coloboma, Macular atrophy, Abnormal aud... |
OMIM:619260 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Corneal arcus, Hypercholesterolemi... |
OMIM:144300 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Sialidosis Type 1 |
|
Cataract, Corneal opacity, Decreased nerve conduction velocity, Tremor, Sensorineural hearing imp... |
ORPHA:812 |
Bartsocas-Papas Syndrome 2 |
|
Corneal opacity, Accessory oral frenulum, Micrognathia, Antecubital pterygium, Bilateral cleft li... |
OMIM:619339 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Coats Disease |
|
Aplasia/Hypoplasia of the iris, Retinal detachment, Cataract, Abnormal anterior chamber morphology |
ORPHA:190 |
Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... |
OMIM:604229 |
Sjogren-Larsson Syndrome |
|
Retinal pigment epithelial atrophy, Opacification of the corneal epithelium, Macular degeneration... |
OMIM:270200 |
Cofs Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Micrognathia, Sensorineural hearing impairment, Op... |
ORPHA:1466 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Macrodontia, High, narrow palate, Sensorineural hearing impairment, Hy... |
ORPHA:3214 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Cataract, Micrognathia, Thick lower lip vermilion, Widely-spaced maxillary central incisors, Shor... |
OMIM:608227 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Cataract, Tremor, Elevated circulating phytanic acid concentration, Pigmentary retinopathy, Incre... |
OMIM:614307 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Optic disc pallor, Chorioretin... |
OMIM:251270 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Cataract, Macular atrophy, Micrognathia, Optic atrophy, Microcornea |
OMIM:616171 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... |
ORPHA:98973 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Uveitis, Microcor... |
OMIM:221900 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hypokalemia, Cataract, Hyperamylasemia, Band keratopathy |
OMIM:604278 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma |
OMIM:148200 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Low-set ears, Long philtrum, Ocu... |
OMIM:615145 |
Oculomaxillofacial Dysostosis |
|
Median cleft lip, Corneal opacity, Micrognathia, Abnormality of the dentition, Wide nasal bridge,... |
ORPHA:1794 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Abnormality of the dentition, Protruding ear, Microcor... |
ORPHA:1806 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Cataract |
OMIM:613801 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Absent brainstem auditory responses, Cataract, Hypermelanotic macule, Dela... |
ORPHA:90321 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Iridodonesis, Ectopia lentis, Abnormality of the dentition, Microspherophakia, Deep anterior cham... |
OMIM:251750 |
Ophthalmomandibulomelic Dysplasia |
|
Obtuse angle of mandible, Megalocornea, Corneal opacity, Temporomandibular joint ankylosis |
ORPHA:2741 |
Stickler Syndrome, Type Ii |
|
Retinal detachment, Cataract, Micrognathia, High, narrow palate, Sensorineural hearing impairment... |
OMIM:604841 |
Sialidosis Type 2 |
|
Tremor, Corneal opacity, Hearing impairment |
ORPHA:87876 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Sensorineural hearing impairment, Tooth ankylosi... |
OMIM:166750 |
Stickler Syndrome, Type V |
|
Retinal detachment, Sensorineural hearing impairment, Cataract, Pierre-Robin sequence |
OMIM:614284 |
Mucolipidosis Type Iv |
|
Abnormality of retinal pigmentation, Corneal opacity, EEG abnormality, Everted lower lip vermilio... |
ORPHA:578 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
Walker-Warburg Syndrome |
|
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Posteriorly rotated ears,... |
ORPHA:899 |
Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Sensorineural hearing impairment,... |
ORPHA:290 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Cataract, Decreased nerve conduction velocity, Sensorineural hearing impairment, Choreoathetosis,... |
OMIM:614932 |
Hurler-Scheie Syndrome |
|
Abnormal nerve conduction velocity, Sensorineural hearing impairment, Corneal opacity |
ORPHA:93476 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Cataract, Sensorineural hearing impairment, Optic disc drusen, Pigmentary retinopath... |
OMIM:204000 |
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome |
|
Low-set, posteriorly rotated ears, Cataract, Accessory oral frenulum |
ORPHA:1373 |
Usher Syndrome Type 1 |
|
Cataract, Abnormal dental enamel morphology, Sensorineural hearing impairment, Abnormal cochlea m... |
ORPHA:231169 |
Genetic Hyperferritinemia Without Iron Overload |
|
Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat... |
ORPHA:254704 |
Autosomal Recessive Stickler Syndrome |
|
Retinal detachment, Cataract, Micrognathia, Sensorineural hearing impairment, Cleft palate, Astig... |
ORPHA:250984 |
Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... |
ORPHA:83461 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... |
ORPHA:91495 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... |
OMIM:613835 |
Stickler Syndrome Type 1 |
|
Retinal detachment, Cataract, Hypoplasia of the maxilla, Sensorineural hearing impairment, Cleft ... |
ORPHA:90653 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis, Cataract |
OMIM:614876 |
Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14 |
|
Sensorineural hearing impairment, Cataract, Elevated circulating creatine kinase concentration, C... |
OMIM:615350 |
Hypomelanosis Of Ito |
|
Cataract, Macular hypopigmented whorls, streaks, and patches, Thick lower lip vermilion, Irregula... |
OMIM:300337 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia, Retinal detachment, Mandibular prognathia, Cataract, Optic nerve hypoplasia, Microg... |
OMIM:620157 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Cataract |
OMIM:278780 |
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
|
Cataract, High, narrow palate, Low-set ears, Malar flattening, Macrotia |
ORPHA:3433 |
3Q29 Microduplication Syndrome |
|
Cataract, Sclerocornea, Abnormality of the dentition, Deep philtrum, Wide nasal bridge, Cleft pal... |
ORPHA:251038 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Optic disc colobom... |
OMIM:120200 |
Microphthalmia With Brain And Digit Anomalies |
|
Cataract, Sclerocornea, Sensorineural hearing impairment, Microcornea, High palate, Chorioretinal... |
ORPHA:139471 |
Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Corneal opacity, Spotty hypopigmentation, Hyperpigmentation of the skin |
ORPHA:1867 |
Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
Intestinal Dysmotility Syndrome |
|
Broad philtrum, Cataract, High palate, Low-set ears |
OMIM:620045 |
Zellweger Syndrome |
|
Cataract, Corneal opacity, Abnormal chorioretinal morphology, Micrognathia, Brushfield spots, Ext... |
ORPHA:912 |
Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... |
OMIM:614170 |
Nance-Horan Syndrome |
|
Mandibular prognathia, Retinal detachment, Cataract, Abnormality of the dentition, Supernumerary ... |
ORPHA:627 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Small earlobe, Corneal opacity, Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality ... |
ORPHA:364577 |
Sanjad-Sakati Syndrome |
|
Low-set, posteriorly rotated ears, Corneal opacity, Abnormal dental enamel morphology, Micrognath... |
ORPHA:2323 |
X-Linked Intellectual Disability, Najm Type |
|
Cataract, Optic nerve hypoplasia, Micrognathia, Sensorineural hearing impairment, Optic atrophy, ... |
ORPHA:163937 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Cataract, Elevated circulating creatine kinase concentration |
OMIM:615352 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy |
OMIM:180104 |
Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Micrognathia, Abnormality of the dentition, Orofacial cle... |
ORPHA:96125 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Iris coloboma, Chorioretinal coloboma |
OMIM:616428 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Cataract, Micrognathia, Malar prominence, Microcornea, Abnormality of peripheral nerve conduction... |
ORPHA:48431 |
Prune1-Related Neurological Syndrome |
|
Cataract, Elevated circulating creatine kinase concentration, Micrognathia, Optic atrophy, EEG ab... |
ORPHA:544469 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Corneal opacity, Micrognathia |
OMIM:166300 |
Usher Syndrome Type 3 |
|
Cataract, Sensorineural hearing impairment, Abnormal cochlea morphology, Astigmatism, Iris hypopi... |
ORPHA:231183 |
Amoebic Keratitis |
|
Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri... |
ORPHA:67043 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... |
OMIM:617519 |
Alg2-Cdg |
|
Hypsarrhythmia, Cataract, Iris coloboma, Wide nasal bridge |
ORPHA:79326 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... |
OMIM:611040 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Cataract, Corneal opacity, Sensorineural hearing impairment, Ocular albinism, EEG abnormality, At... |
ORPHA:2719 |
8Q21.11 Microdeletion Syndrome |
|
Cataract, Corneal opacity, Exaggerated cupid's bow, Sclerocornea, Hearing impairment, Micrognathi... |
ORPHA:284160 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Abnormality of dental color, Corneal opacity, Coloboma, Hypophosphatemic rickets, Hypopigmentatio... |
OMIM:163200 |
Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Cataract |
OMIM:273680 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Optic disc pallor, Cataract, Micrognathia, EEG abnormality |
ORPHA:3173 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Lowry-Maclean Syndrome |
|
Corneal opacity, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High... |
ORPHA:2409 |
Cone-Rod Dystrophy 16 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Macular atrophy |
OMIM:614500 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
Neonatal Adrenoleukodystrophy |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Cataract, Sensorineural h... |
ORPHA:44 |
Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
Retinitis Pigmentosa 4 |
|
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Cataract, Retinal atrophy |
OMIM:613731 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Corneal opacity, Micrognathia, Developmental glaucoma, Downturned corners of mouth, Aniridia |
ORPHA:1064 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Hypoplasia of the maxilla, Wide nasal bridge, Microcornea, Short philtrum,... |
OMIM:601499 |
Flynn-Aird Syndrome |
|
Carious teeth, Progressive sensorineural hearing impairment, Cataract |
OMIM:136300 |
Retinitis Pigmentosa 84 |
|
Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular coloboma |
OMIM:618220 |
Megalocornea-Intellectual Disability Syndrome |
|
Iridodonesis, Micrognathia, Sensorineural hearing impairment, Wide nasal bridge, Protruding ear, ... |
ORPHA:2479 |
Oculoauricular Syndrome |
|
Retinal detachment, Cataract, Short mandibular rami, Sclerocornea, Absent earlobe, Chorioretinal ... |
OMIM:612109 |
Mietens Syndrome |
|
Cataract, Corneal opacity, Sclerocornea, Wide nasal bridge, Microcornea, Short nose |
ORPHA:2557 |
Wagro Syndrome |
|
Mandibular prognathia, Cataract, Corneal opacity, Dental crowding, Micrognathia, Low-set ears, An... |
OMIM:612469 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Cataract, Lens subluxation, Lattice retinal degeneration |
OMIM:614292 |
Leber Congenital Amaurosis 16 |
|
Optic disc pallor, Cataract |
OMIM:614186 |
Spastic Paraplegia 5A, Autosomal Recessive |
|
Cataract, Postural tremor, Sensorineural hearing impairment, Optic atrophy, Abnormal circulating ... |
OMIM:270800 |
Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia, Abnormal dental enamel morphology, Abnormality of the dentition |
ORPHA:757 |
Multiple Sulfatase Deficiency |
|
Smooth philtrum, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Sensorineural he... |
ORPHA:585 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Morm Syndrome |
|
Cataract, Retinal atrophy |
ORPHA:75858 |
Leber Congenital Amaurosis |
|
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal optic disc morphology, Heari... |
ORPHA:65 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Conical tooth, Persistence of primary teeth, Optic atrophy, Wide nasal bridge, Dental m... |
OMIM:618727 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Cataract, Posteriorly rotated ears, Micrognathia, Congenital sensorineural hearing impairment, Mi... |
OMIM:617306 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Optic disc pallor, Cataract, Pigmentary retinopathy |
OMIM:204100 |
Bartsocas-Papas Syndrome |
|
Median cleft lip, Corneal opacity, Micrognathia, Cleft palate, Popliteal pterygium, Narrow mouth,... |
ORPHA:1234 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Cataract, Corneal dystrophy |
ORPHA:1369 |
Phenylketonuria |
|
Maternal hyperphenylalaninemia, Cataract, Blue irides, Hyperphenylalaninemia, Generalized hypopig... |
OMIM:261600 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Scheie Syndrome |
|
Corneal opacity, Sensorineural hearing impairment, Wide mouth, Everted lower lip vermilion, Thick... |
ORPHA:93474 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Retinal detachment, Cataract, Elevated circulating creatine kinase concentration, Optic nerve hyp... |
ORPHA:370959 |
Baralle-Macken Syndrome |
|
High, narrow palate, Cafe-au-lait spot, Cataract, Dystonia |
OMIM:619255 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Cardiomyopathy, Dilated, 1Ii |
|
Cataract, Elevated circulating creatine kinase concentration |
OMIM:615184 |
Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Cataract, Hyperpig... |
OMIM:606069 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Retinal detachment, Cataract, Ectopia lentis, Abnormality of the denti... |
ORPHA:2712 |
Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
Gyrate Atrophy Of Choroid And Retina |
|
Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Chorioretinal atrophy, Hyp... |
ORPHA:414 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Short nose, Corneal opacity |
OMIM:618961 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Decreased motor nerve conduction velocity, Cataract, Sensorineural hearing impairment, Hand tremo... |
OMIM:162400 |
Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Corneal opacity |
ORPHA:79292 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract |
OMIM:613826 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... |
ORPHA:179 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation, Abnormality of the dentition, Supernumerary tooth, Oligodont... |
ORPHA:1264 |
Bilateral Acute Depigmentation Of The Iris |
|
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... |
ORPHA:69736 |
4H Leukodystrophy |
|
Delayed eruption of teeth, Cataract, Abnormality of the dentition, Tremor, Optic atrophy, Hypodon... |
ORPHA:289494 |
Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
Familial Isolated Hypoparathyroidism |
|
Delayed eruption of teeth, Cataract, Abnormal dental enamel morphology, Hypocalcemia |
ORPHA:2238 |
Retinitis Pigmentosa |
|
Keratoconus, Abnormality of retinal pigmentation, Cataract, Sensorineural hearing impairment, Opt... |
ORPHA:791 |
Frontonasal Dysplasia 1 |
|
Cataract, Median cleft lip, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Wide nasal br... |
OMIM:136760 |
Cadds |
|
Cataract, Micrognathia, Sensorineural hearing impairment, Increased circulating very long-chain f... |
ORPHA:369942 |
Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology, Elevated circulating creatine kinase concentration |
OMIM:160565 |
Oculocerebrocutaneous Syndrome |
|
Corneal opacity, External ear malformation, Hypopigmented skin patches, Orofacial cleft, Wide mou... |
ORPHA:1647 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Cataract, Corneal opacity, Abnormality of cartilage of external ear, Hypoplasia of the maxilla, C... |
ORPHA:2399 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Stromme Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Micrognathia, Wide nasal bridge, Cleft palate, Mi... |
OMIM:243605 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Cataract, Corneal opacity, Elevated circulating creatine kinase concentration... |
OMIM:236670 |
Alpha-Mannosidosis, Adult Form |
|
Optic disc pallor, Mixed hearing impairment, Cataract, Corneal opacity, Macroglossia |
ORPHA:309288 |
Juvenile Sialidosis Type 2 |
|
Cataract, Corneal opacity, Protruding tongue, Optic atrophy, Gingival overgrowth, Low-set ears, H... |
ORPHA:93399 |
X-Linked Recessive Ocular Albinism |
|
Abnormal pupil morphology, Ocular albinism, Astigmatism, Giant melanosomes in melanocytes, Freckl... |
ORPHA:54 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Cataract, Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic atrophy, S... |
OMIM:612674 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cataract, Cochlear degeneration |
ORPHA:3233 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Galactose Mutarotase Deficiency |
|
Cataract, Hypergalactosemia |
ORPHA:570422 |
Linear Verrucous Nevus Syndrome |
|
Abnormal cornea morphology, Cataract, Iris coloboma, Hypophosphatemia |
ORPHA:2611 |
Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
Atelis Syndrome 1 |
|
Cataract, Carious teeth, Microtia, High palate, Long philtrum, Irregular hyperpigmentation, Cafe-... |
OMIM:620184 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Wide mouth, Hyperalaninemia, Cataract, Micrognathia |
OMIM:617228 |
3-Methylglutaconic Aciduria Type 4 |
|
Cataract, Hearing impairment, Iris hypopigmentation |
ORPHA:67048 |
Usher Syndrome Type 2 |
|
Abnormality of dental color, Cataract, Abnormal dental enamel morphology, Carious teeth, Sensorin... |
ORPHA:231178 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Low-set, posteriorly rotated ears, Cataract, Micrognathia, Furrowed tongue, Abnormal antihelix mo... |
ORPHA:1387 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
Vogt-Koyanagi-Harada Disease |
|
Retinal detachment, Cataract, Sensorineural hearing impairment, Hypopigmented skin patches, Vitiligo |
ORPHA:3437 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
Branchio-Oculo-Facial Syndrome |
|
Low-set, posteriorly rotated ears, Cataract, Abnormal pinna morphology, Deep philtrum, Non-midlin... |
ORPHA:1297 |
Isolated Ectopia Lentis |
|
Mandibular prognathia, Cataract, Ectopia lentis, Ectopia pupillae, Malar flattening |
ORPHA:1885 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Cataract, Sensorineural hearing impairment, Prelingual sensorineural hearing impairment, Developm... |
ORPHA:436174 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia, Hand tremor |
OMIM:609153 |
Rodrigues Blindness |
|
Microcornea, Tooth malposition, Sclerocornea, Protruding ear |
OMIM:268320 |
Gorlin Syndrome |
|
Mandibular prognathia, Cataract, Carious teeth, Wide nasal bridge, Melanocytic nevus, Iris coloboma |
ORPHA:377 |
Lissencephaly 8 |
|
Cataract, Optic atrophy, Elevated circulating creatine kinase concentration |
OMIM:617255 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Abnormality of skin pigmentation, Hyperkalemia |
OMIM:240200 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Optic nerve hypoplasia, Retinal detachment, Cataract, Elevated circulating creatine kinase concen... |
OMIM:615181 |
Osteoporosis-Pseudoglioma Syndrome |
|
Retinal detachment, Corneal opacity |
ORPHA:2788 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Cataract, Dental crowding, Micrognathia, Long nose, Hypoplasia of the ... |
OMIM:257850 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Cataract, Corneal guttata |
OMIM:193230 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Cataract, Sensorineural hearing impairment, Wide nasal bridge, Hypsarrhythmia, High palate, Low-s... |
OMIM:607906 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Mandibular prognathia, Abnormality of retinal pigmentation, Cataract, Malar prominence, Optic atr... |
ORPHA:2715 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Conjunctival icterus, Sensorineural hearing impairment, Abno... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Conjunctival icterus, Sensorineural hearing impairment, Abno... |
ORPHA:529799 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Macular atrophy, Corneal scarring, Buphthalmos, Chorioretinal colob... |
OMIM:212550 |
Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
Renpenning Syndrome |
|
Mandibular prognathia, Cataract, Macrodontia, High, narrow palate, Sensorineural hearing impairme... |
ORPHA:3242 |
Leukodystrophy, Hypomyelinating, 24 |
|
Decreased motor nerve conduction velocity, Cataract, Tongue fasciculations |
OMIM:619851 |
Isolated Aniridia |
|
Aniridia, Cataract, Peters anomaly |
ORPHA:250923 |
Congenital Sialidosis Type 2 |
|
Cataract, Corneal opacity, Protruding tongue, Optic atrophy, Gingival overgrowth, Developmental c... |
ORPHA:93400 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Thin upper lip vermilion, Rieger anomaly, Hypoplasia of the maxilla, Polycoria, Wide nasal bridge... |
OMIM:180500 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Conductive hearing impairment, Cataract, Narrow mouth |
OMIM:132450 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Corneal opacity, Athetosis, Abnormal cornea morphology, Long philtrum, Dystonia, Hearing impairment |
ORPHA:357058 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Temtamy Syndrome |
|
Dental crowding, Ectopia lentis, Lens luxation, Lop ear, Micrognathia, Hypoplasia of teeth, Low-s... |
OMIM:218340 |
Wagr Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Everted lower lip vermilion, Micrognathia |
ORPHA:893 |
Peroxisome Biogenesis Disorder 7A (Zellweger) |
|
Cataract, Posteriorly rotated ears, Elevated circulating hexacosanoic acid concentration, Elevate... |
OMIM:614872 |
Dystonia-Deafness Syndrome 1 |
|
Cataract, Generalized dystonia, Oculogyric crisis, Cleft upper lip, Sensorineural hearing impairm... |
OMIM:607371 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Cataract, Hypsarrhythmia, Wide mouth, Widely spaced teeth, Macrotia, He... |
OMIM:619877 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cataract, Hypokalemia, Hypocalcemia, Hypomagnesemia, Glossitis, Hyperpigmentation of the skin |
OMIM:175500 |
Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma |
ORPHA:35737 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Cataract, Exaggerated cupid's bow, Sclerocornea, Micrognathia, Sensorineural hearing impairment, ... |
OMIM:614230 |
Mucopolysaccharidosis Type 4 |
|
Corneal opacity, Abnormal dental enamel morphology, Abnormality of the dentition, Grayish enamel,... |
ORPHA:582 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Anis... |
ORPHA:263479 |
Congenital Varicella Syndrome |
|
Cataract |
ORPHA:291 |
Laurence-Moon Syndrome |
|
Low-set, posteriorly rotated ears, Cataract, Sensorineural hearing impairment, Abnormal antitragu... |
ORPHA:2377 |
Gm1-Gangliosidosis, Type Iii |
|
Opacification of the corneal stroma, Dystonia |
OMIM:230650 |
Peroxisome Biogenesis Disorder 11B |
|
Cataract, Hearing impairment |
OMIM:614885 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Tyrosinemia Type 2 |
|
Tremor, Malar flattening, Corneal opacity |
ORPHA:28378 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemia, Cataract, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:146200 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Corneal opacity, Optic nerve hypoplasia, Elevated circulating creatine kinase concentration, Post... |
OMIM:301056 |
Muscle-Eye-Brain Disease |
|
EEG abnormality, Cataract, Optic atrophy, Elevated circulating creatine kinase concentration |
ORPHA:588 |
Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Cataract |
OMIM:183800 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Generalized dystonia, Tremor, Sensorineural hearing impairme... |
ORPHA:52368 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Conjugated hyperbilirubinemia, Nuclear cataract, Cataract, Hyperkalemia |
OMIM:608885 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Elevated circulating creat... |
OMIM:614643 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Methylmalonic acidemia, Cataract, Tented upper lip vermilion, Retinal pigment epithelial mottling... |
OMIM:614105 |
Aniridia 3 |
|
Aniridia, Cataract |
OMIM:617142 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Abnormal lens morphology, Hypoplasia of the maxilla, Abno... |
ORPHA:363417 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Downturned corners of mouth, Enamel hypoplasia, Cataract |
ORPHA:2643 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Corneal opacity, Conical primary incisor |
OMIM:602400 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Neurotrophic Keratopathy |
|
Anterior uveitis, Abnormal fifth cranial nerve morphology, Corneal scarring, Corneal stromal edem... |
ORPHA:137596 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Aplasia/Hypoplasia of the lens, Cataract, Abnormal palate morphology |
ORPHA:1381 |
Cockayne Syndrome A |
|
Mandibular prognathia, Cataract, Retinal atrophy, Abnormal pinna morphology, Abnormal auditory ev... |
OMIM:216400 |
Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival... |
ORPHA:98957 |
Pellagra-Like Syndrome |
|
Cataract |
OMIM:260650 |
Neuhauser Syndrome |
|
Iridodonesis, Micrognathia, Cupped ear, Wide nasal bridge, Hypoplasia of the iris, Large fleshy e... |
OMIM:249310 |
Srd5A3-Cdg |
|
Cataract, Optic atrophy, Coloboma, Oligodontia, Spotty hyperpigmentation, Hearing impairment |
ORPHA:324737 |
Cockayne Syndrome B |
|
Mandibular prognathia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Delayed er... |
OMIM:133540 |
Familial Dysautonomia |
|
Hyponatremia, Orthostatic hypotension, Corneal opacity, Abnormal pupil morphology, Corneal erosio... |
ORPHA:1764 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Leukocoria, Cleft palate |
OMIM:257910 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, High, narrow palate, Leuko... |
ORPHA:2714 |
Brachyolmia Type 1, Toledo Type |
|
Opacification of the corneal stroma |
OMIM:271630 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Retinal detachment, Cataract, Abnormal chorioretinal morphology, Corne... |
ORPHA:464 |
Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
Cystinosis |
|
Hypokalemia, Corneal opacity, Hypophosphatemia |
ORPHA:213 |
Brittle Cornea Syndrome 1 |
|
Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness, Dentinogenesi... |
OMIM:229200 |
Zimmermann-Laband Syndrome |
|
Cataract, Generalized hyperpigmentation, Micrognathia, Sensorineural hearing impairment, Supernum... |
ORPHA:3473 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Temporomandibular joint ankylosis, Opacification of the corneal stroma |
OMIM:164900 |
Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity |
ORPHA:281090 |
Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
Cataract 48 |
|
Cataract |
OMIM:618415 |
Birk-Landau-Perez Syndrome |
|
Dystonia, Optic atrophy, Hyperkalemia, Choreoathetosis, Increased circulating creatine kinase MB ... |
OMIM:617595 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Sensorineural hearing impairment, Hypoplasia of the iris, Ectopia pupillae, Posterior synechiae o... |
OMIM:602482 |
Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
Achondrogenesis Type 2 |
|
Retinal detachment, Cataract, Pierre-Robin sequence, Lens subluxation, Hearing impairment |
ORPHA:93296 |
Moebius Syndrome |
|
Corneal opacity, Facial palsy, Aplasia/Hypoplasia of the tongue, Micrognathia, Cleft palate, Toot... |
ORPHA:570 |
Classic Phenylketonuria |
|
Tremor, Cataract, Hypopigmentation of the skin, Hyperphenylalaninemia |
ORPHA:79254 |
Mosaic Trisomy 8 |
|
Corneal opacity, Abnormal pinna morphology, Micrognathia, Hypopigmented skin patches, Cleft palat... |
ORPHA:96061 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Vitamin K Antagonist Embryofetopathy |
|
Cataract, Optic atrophy, Macroglossia, Microtia, Short nose, Hearing impairment |
ORPHA:1914 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Short nose, Cataract, Hearing impairment |
OMIM:302950 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Cataract, Cleft lip, Deep philtrum, Wide nasal bridge, Cleft palate, Protrudin... |
OMIM:618571 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, Macular atrophy, Coloboma,... |
ORPHA:85167 |
Woolly Hair Nevus |
|
Widely-spaced incisors, Heterochromia iridis, Enlarged vestibular aqueduct, Persistent pupillary ... |
ORPHA:79414 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Dental crowding, Hypoammonemia, Chorioretinal dysplasia, Micrognathia, Abn... |
ORPHA:534 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Corneal opacity, Oral mucosal blisters, Depigmentation/hyperpigmentation of skin, Generalized ret... |
ORPHA:79396 |
Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Corneal opacity, Grayish enamel, Carious teeth, Wide mouth, Widely spaced ... |
OMIM:253010 |
Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract, Gingival overgrowth |
OMIM:221800 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,... |
OMIM:106210 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Optic disc pallor, Cataract |
OMIM:613730 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
Weill-Marchesani Syndrome 4 |
|
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... |
OMIM:613195 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Cataract, Elevated circulating creatine kinase concentration |
OMIM:615704 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Cataract, Micrognathia, Abnormality of the dentition, Sensorineural hearing impairment, Thick low... |
ORPHA:85321 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Cataract, Micrognathia, Tremor, Hypsarrhythmia, Hypoproteinemia |
OMIM:608093 |
Dyschondrosteosis-Nephritis Syndrome |
|
Microdontia, Corneal opacity |
ORPHA:1765 |
Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Enamel hypoplasia, Cataract |
OMIM:612463 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... |
OMIM:613270 |
Proteus-Like Syndrome |
|
Mandibular prognathia, Retinal detachment, Cataract, Open bite, Abnormal pupil morphology, Limbal... |
ORPHA:2969 |
Woolly Hair |
|
Abnormal pupil morphology, Cataract |
ORPHA:170 |
Harrod Syndrome |
|
Cataract, Long nose, Dental malocclusion, Hypopigmented skin patches, Protruding ear, High palate... |
ORPHA:2115 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Astigmatism, Hyperkalemia |
ORPHA:97362 |
Frontofacionasal Dysplasia |
|
Cataract, Brushfield spots, Non-midline cleft lip, Cleft palate, Microcornea, Limbal dermoid, Sho... |
ORPHA:1791 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Posteriorly rotated ears, Corneal o... |
OMIM:608670 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Corneal degeneration, Corneal dystrophy, Corneal guttata |
OMIM:610158 |
Usher Syndrome |
|
Abnormality of retinal pigmentation, Abnormality of dental color, Cataract, Abnormal dental ename... |
ORPHA:886 |
Spondylo-Ocular Syndrome |
|
Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Abnormal antihelix morphology, Thin... |
ORPHA:85194 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level |
ORPHA:556037 |
Focal Dermal Hypoplasia |
|
Corneal opacity, Abnormal dental morphology, Abnormal dental enamel morphology, Ectopia lentis, O... |
ORPHA:2092 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma |
ORPHA:461 |
Herpes Simplex Virus Stromal Keratitis |
|
Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ... |
ORPHA:137599 |
Marshall Syndrome |
|
Retinal detachment, Cataract, Ectopia lentis, Micrognathia, Hypoplasia of the maxilla, Sensorineu... |
ORPHA:560 |
Microphthalmia, Syndromic 16 |
|
Sclerocornea |
OMIM:611038 |
Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Albinism, Total intestinal agangliono... |
OMIM:600501 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae, Long philtrum |
OMIM:615877 |
Mucolipidosis Iii Gamma |
|
Increased serum beta-hexosaminidase, Opacification of the corneal stroma |
OMIM:252605 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
Codas Syndrome |
|
Delayed eruption of teeth, Cataract, Abnormal dental morphology, Abnormal dental enamel morpholog... |
ORPHA:1458 |
Rabin-Pappas Syndrome |
|
Hyponatremia, Retinal detachment, Mandibular prognathia, Cataract, Optic nerve hypoplasia, Microg... |
OMIM:620155 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
Mend Syndrome |
|
Cataract, Abnormal auditory evoked potentials, Micrognathia, Asymmetry of the mouth, Elevated 8-d... |
ORPHA:401973 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Tongue... |
OMIM:601596 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Thin upper lip vermilion, Cataract, Sensorineural hearing impairment, Thick lower lip vermilion, ... |
OMIM:220500 |
Gorlin-Chaudhry-Moss Syndrome |
|
Sclerocornea, Abnormality of the dentition, Hypoplasia of the maxilla, Oligodontia, Astigmatism, ... |
ORPHA:2095 |
Pierson Syndrome |
|
Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya... |
OMIM:609049 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level |
ORPHA:556030 |
Infantile Refsum Disease |
|
Cataract, Facial palsy, Sensorineural hearing impairment, Optic atrophy, Elevated circulating phy... |
ORPHA:772 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
Late-Onset Retinal Degeneration |
|
Iris atrophy, Choroidal neovascularization, Macular atrophy, Patchy atrophy of the retinal pigmen... |
ORPHA:67042 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Decreased circulating plasmalogen concentration, Cataract, Optic nerve hypoplasia, Micrognathia, ... |
OMIM:222765 |
Gm1 Gangliosidosis |
|
Mandibular prognathia, Generalized dystonia, Corneal opacity, Tremor, Narrow mouth, Optic atrophy... |
ORPHA:354 |
Hypogonadism-Cataract Syndrome |
|
Cataract |
OMIM:240950 |
Gomez-Lopez-Hernandez Syndrome |
|
Posteriorly rotated ears, Thin vermilion border, High palate, Low-set ears, Opacification of the ... |
OMIM:601853 |
Craniolenticulosutural Dysplasia |
|
Smooth philtrum, Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia ... |
ORPHA:50814 |
Duane Retraction Syndrome |
|
Central heterochromia, Micrognathia, External ear malformation, Abnormal pupil morphology, Sensor... |
ORPHA:233 |
Retinitis Pigmentosa 2 |
|
Pigmentary retinopathy, Cataract, Chorioretinal degeneration |
OMIM:312600 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:682 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Tented upper lip vermilion, Posteriorly rotated ears, Dental crowding, Cleft upper lip, Narrow mo... |
OMIM:612582 |
Atopic Keratoconjunctivitis |
|
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization |
ORPHA:163934 |
Unilateral Ocular Duplication |
|
Median cleft lip, Abnormal pupil morphology, Cleft palate, Microcornea, Iris coloboma |
ORPHA:3374 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Cataract, Micrognathia, Brushfield spots, Optic nerve dysplasia, Cleft palate, Pigmentary retinop... |
OMIM:214110 |
Mucolipidosis Iii Alpha/Beta |
|
Mandibular prognathia, Increased serum beta-hexosaminidase, Hyperopic astigmatism, Opacification ... |
OMIM:252600 |
Vernal Keratoconjunctivitis |
|
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... |
ORPHA:70476 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Cataract, Median cleft lip, Abnormal dental enamel morphology, Premature l... |
ORPHA:2710 |
Schimke Immuno-Osseous Dysplasia |
|
Corneal opacity, Hypermelanotic macule, Hyperlipidemia, Abnormal primary molar morphology, Multip... |
ORPHA:1830 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Cataract, Keratitis, Carious teeth, Conjunctivitis, Enamel hypoplasia |
OMIM:612843 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Cataract, Ectopia lentis, Dental malocclusion, Spherophakia, Anterior synechiae of ... |
OMIM:601552 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
Arthrogryposis, Distal, Type 2A |
|
Mandibular prognathia, Pursed lips, Dental crowding, Abnormal auditory evoked potentials, Whistli... |
OMIM:193700 |
Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Cataract, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Enamel... |
OMIM:612462 |
Osteopetrosis, Autosomal Recessive 9 |
|
Papilledema, Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:620366 |
Pseudo-Torch Syndrome 1 |
|
Microretrognathia, Cataract, Dystonia, Cleft lip, High palate, Low-set ears, Opacification of the... |
OMIM:251290 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cataract, Retinal coloboma |
OMIM:601794 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract, Retinal coloboma |
ORPHA:363741 |
Al-Gazali Syndrome |
|
Corneal opacity, Sclerocornea, Micrognathia |
OMIM:609465 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Cataract, Optic atrophy, Abnormality of skin pigmentation, Coloboma, Low-set ears |
OMIM:612379 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Cataract, Micrognathia, Hearing impairment, Developmental cataract |
OMIM:610756 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Cataract, Elevated circulating creatine kinase concentration, Sensorineural hearing impairment, C... |
OMIM:615249 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
Micro Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Cataract, Micrognathia, O... |
ORPHA:2510 |
Hurler Syndrome |
|
Corneal opacity, Wide nasal bridge, Gingival overgrowth, Macroglossia, Thick vermilion border, Op... |
OMIM:607014 |
Warburg Micro Syndrome 3 |
|
Cataract, Micrognathia, Optic atrophy, Narrow palate, Developmental cataract, Microcornea, Downtu... |
OMIM:614222 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Cataract, Generalized dystonia, Sensorineural hearing impairment, Orofacial cleft, Macroglossia |
ORPHA:79107 |
Fucosidosis |
|
Abnormality of the dentition, Corneal opacity, Hearing impairment |
ORPHA:349 |
Autoimmune Hypoparathyroidism |
|
Cataract, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystoni... |
ORPHA:36913 |
Trisomy 9P |
|
Dental crowding, Abnormal pupil morphology, Non-midline cleft lip, Protruding ear, Downturned cor... |
ORPHA:236 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
Fryns Syndrome |
|
Low-set, posteriorly rotated ears, Tented upper lip vermilion, Aganglionic megacolon, Corneal opa... |
ORPHA:2059 |
Monilethrix |
|
Cataract, Abnormality of the dentition |
ORPHA:573 |
Galactokinase Deficiency |
|
Cataract, Sensorineural hearing impairment, Increased level of galactitol in plasma, Nuclear cata... |
ORPHA:79237 |
Cutis Laxa, Autosomal Dominant 3 |
|
Protruding ear, Corneal opacity, Low-set ears, Developmental cataract |
OMIM:616603 |
Juvenile Glaucoma |
|
Optic neuropathy, Abnormality iris morphology, Increased cup-to-disc ratio, Temporal optic disc p... |
ORPHA:98977 |
Proboscis Lateralis |
|
Aplasia/Hypoplasia of the maxilla, Cataract, Corneal opacity, Optic nerve hypoplasia, Abnormal pa... |
ORPHA:141099 |
Pelvis-Shoulder Dysplasia |
|
Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
Olmsted Syndrome 1 |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:614594 |
Short Syndrome |
|
Delayed eruption of teeth, Rieger anomaly, Cataract, Micrognathia, Sensorineural hearing impairme... |
OMIM:269880 |
Vici Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Sensorineural hearing impairment, Optic atrophy, E... |
ORPHA:1493 |
Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
Hurler Syndrome |
|
Corneal opacity, Wide nasal bridge, Abnormality of skin pigmentation, Macroglossia, Thick vermili... |
ORPHA:93473 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Cataract, Posteriorly rotated ears, Micrognathia, Wide nasal bridge, Narrow mouth, Neonatal death... |
OMIM:224410 |
Peroxisome Biogenesis Disorder 9B |
|
Sensorineural hearing impairment, Cataract, Elevated circulating phytanic acid concentration |
OMIM:614879 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Dystonia, Corneal opacity, Elevated circulating creatine kinase concentration, Polycoria, Retinal... |
OMIM:175780 |
Phacoanaphylactic Uveitis |
|
Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, ... |
ORPHA:209959 |
Hurler-Scheie Syndrome |
|
Thick vermilion border, Corneal opacity, Micrognathia |
OMIM:607015 |
Norrie Disease |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... |
ORPHA:649 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia |
OMIM:141000 |
Microphthalmia, Lenz Type |
|
Low-set, posteriorly rotated ears, Delayed eruption of teeth, Cataract, Abnormal dental morpholog... |
ORPHA:568 |
Mucopolysaccharidosis Type 1 |
|
Sinusitis, Corneal opacity, Sensorineural hearing impairment, Thick lower lip vermilion, Optic at... |
ORPHA:579 |
Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Corneal opacity, Micrognathia, Hypoplasia of the maxilla, Sensorineura... |
OMIM:601812 |
Autoimmune Polyendocrinopathy Type 1 |
|
Cataract, Hypopigmented skin patches, Opacification of the corneal stroma |
ORPHA:3453 |
Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor |
OMIM:619649 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract |
OMIM:616722 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Cataract, Hypoalbuminemia |
OMIM:618805 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Buphthalmos, Cataract, Elevated circulating creatine kinase concentration, EEG with focal spike w... |
ORPHA:370997 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Thin upper lip vermilion, Carious teeth, Punctate cataract, Optic atro... |
OMIM:607812 |
Pseudohypoaldosteronism, Type Iia |
|
Hyperkalemia |
OMIM:145260 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Cataract, Posteriorly rotated ears, Facial palsy, Micrognathia, High, ... |
ORPHA:2780 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Postural hypotension with compensatory tachycardia, Keratitis, Corneal scarring, Abnormal autonom... |
OMIM:256800 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Tremor, Pigmentary retinopathy, Cataract, Elevated circulating creatine kinase concentration |
ORPHA:79095 |
Multiple Sulfatase Deficiency |
|
Corneal opacity, Retinal degeneration, Hearing impairment |
OMIM:272200 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Tbck-Related Intellectual Disability Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Corneal opacity, High, narrow palate, Sensorin... |
ORPHA:488632 |
Generalized Eruptive Keratoacanthoma |
|
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis |
ORPHA:411777 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Cataract, Corneal opacity, Small, conical teeth, Large earlobe, Atheto... |
ORPHA:2962 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy, Corneal guttata |
OMIM:615523 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia |
OMIM:264350 |
Chime Syndrome |
|
Corneal opacity, Abnormal dental morphology, Abnormality of the dentition, Supernumerary tooth, C... |
ORPHA:3474 |
Hereditary Mucoepithelial Dysplasia |
|
Furrowed tongue, Cataract, Corneal dystrophy, Gingival overgrowth |
ORPHA:1839 |
Marshall Syndrome |
|
Retinal detachment, Cataract, Malar flattening, Lens luxation, Micrognathia, Absent frontal sinus... |
OMIM:154780 |
Aniridia-Absent Patella Syndrome |
|
Aniridia, Cataract |
ORPHA:1069 |
Galloway-Mowat Syndrome 1 |
|
Cataract, Dystonia, Micrognathia, Optic atrophy, Hypoplasia of the iris, Wide mouth, Hypoalbumine... |
OMIM:251300 |
3Mc Syndrome 3 |
|
Abnormal pinna morphology, Corneal opacity, Cleft upper lip, Cleft palate, Auricular pit, Hearing... |
OMIM:248340 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Cataract, Patchy atrophy of the retinal pigment epithelium, Chorioretinal atr... |
OMIM:616468 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Iris coloboma, Sclerocornea, Hearing impairment |
ORPHA:77298 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of retinal pigmentation, Corneal opacity, Chorioretinal dysplasia, Sclerocornea, Micr... |
ORPHA:2556 |
Refsum Disease, Classic |
|
Sensorineural hearing impairment, Cataract, Elevated circulating phytanic acid concentration, Ret... |
OMIM:266500 |
Microphthalmia, Syndromic 5 |
|
Cataract, Optic nerve hypoplasia, Cleft palate, Microcornea, Coloboma |
OMIM:610125 |
Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Cataract, Hyperphosphatemia, Hypocalcemic tetany, Enamel hypoplasia |
OMIM:103580 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Atresia of the external auditory canal, Opacification of the corneal stroma |
OMIM:601356 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Delayed eruption of teeth, Peripheral opacification of the cornea, Corneal opacity, Hypermelanoti... |
OMIM:259600 |
Ablepharon Macrostomia Syndrome |
|
Corneal opacity, Hypoplasia of the maxilla, Corneal erosion, Abnormality of skin pigmentation, Wi... |
ORPHA:920 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Oculogyric crisis, Tremor, Hype... |
ORPHA:94093 |
Acrofrontofacionasal Dysostosis 1 |
|
Mandibular prognathia, Iris atrophy, Mixed hearing impairment, Cleft upper lip, Optic atrophy, Wi... |
OMIM:201180 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Elevated creatine kinase after exercise, Hyperkalemia |
ORPHA:57 |
Alport Syndrome 2, Autosomal Recessive |
|
Corneal erosion, Cataract, Hearing impairment, Anterior lenticonus |
OMIM:203780 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:171876 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Cataract, Iris hypopigmentation, Ocular albinism, High palate, Generalized hypopigmentation, Hear... |
ORPHA:2720 |
Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Donnai-Barrow Syndrome |
|
Retinal detachment, Cataract, Posteriorly rotated ears, Sensorineural hearing impairment, Hypopla... |
OMIM:222448 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Delayed eruption of teeth, Cataract, Hyperphosphatemia, Conjunctivitis, Hypocalcemia,... |
ORPHA:94089 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
Atelis Syndrome 2 |
|
Remnants of the hyaloid vascular system, Micrognathia, Diastema, Thick lower lip vermilion, Protr... |
OMIM:620185 |
Peroxisome Biogenesis Disorder 10B |
|
Cataract, Posteriorly rotated ears, Low-set ears |
OMIM:617370 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Cataract, Micrognathia, Optic atrophy, Orofacial cleft, Microcornea, Micro... |
ORPHA:3301 |
3Q29 Microdeletion Syndrome |
|
Cataract, Dental crowding, Abnormality of the dentition, Orofacial cleft, Abnormality of skin pig... |
ORPHA:65286 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Cataract, Micrognathia, Optic atrophy, Hypokalemia, High palate, Hypoca... |
OMIM:617913 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Sensorineural hearing impai... |
OMIM:268315 |
1Q41Q42 Microdeletion Syndrome |
|
Submucous cleft hard palate, Thick vermilion border, Abnormality iris morphology, Cleft palate |
ORPHA:250999 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Head titubation, Increased circulating ferritin concentratio... |
ORPHA:3240 |
Dahlberg-Borer-Newcomer Syndrome |
|
Cataract, Hypocalcemia, Wide nasal bridge |
ORPHA:1563 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
Triploidy |
|
Low-set, posteriorly rotated ears, Cataract, Micrognathia, Non-midline cleft lip, Cleft palate, W... |
ORPHA:3376 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Short-segment aganglioni... |
OMIM:609136 |
Apolipoprotein A-I Deficiency |
|
Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, Opacification ... |
ORPHA:425 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Microretrognathia, Cataract, Tremor, Wide nasal bridge, Hyperammonemia, Low-set ears, Long philtr... |
OMIM:614052 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Tongue atrophy, Cataract, Decreased distal sensory nerve action potential, Tremor, Developmental ... |
ORPHA:99956 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Retinal atrophy, Elevated circulating creatine kinase concentration, Micrognathia, Opti... |
OMIM:253280 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Orthostatic hypotension, Hypercalcemia, Hyperkalemia, Increased circulating renin l... |
ORPHA:95409 |
Lathosterolosis |
|
Cataract, Micrognathia, Gingival overgrowth, Microcornea, Downturned corners of mouth, High palat... |
ORPHA:46059 |
Familial Exudative Vitreoretinopathy |
|
Rhegmatogenous retinal detachment, Cataract, Chorioretinal atrophy, Abnormal optic disc morpholog... |
ORPHA:891 |
Xeroderma Pigmentosum, Complementation Group B |
|
Cataract, Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic atrophy, P... |
OMIM:610651 |
Galactosialidosis |
|
Conjunctival telangiectasia, Opacification of the corneal stroma, Hearing impairment |
OMIM:256540 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
Carpenter Syndrome 1 |
|
Abnormal pinna morphology, Micrognathia, Hypoplasia of the maxilla, Persistence of primary teeth,... |
OMIM:201000 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Conductive hearing impairment... |
ORPHA:861 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Resting tremor, Optic neuropathy, Abnormal auditory evoked potentials, Decreas... |
ORPHA:909 |
Bosma Arhinia Microphthalmia Syndrome |
|
Cataract, Abnormal pinna morphology, Paranasal sinus hypoplasia, Absent tragus, Cleft lip, Dental... |
OMIM:603457 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Delayed eruption of primary teeth, Hyperpigmented streaks, Sclerocornea |
OMIM:300952 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration, Corneal crystals |
OMIM:219750 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Orthostatic hypotension, Hypercalcemia, Hyperkalemia, Hyperuricemia, Vitiligo |
ORPHA:199299 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Optic disc pallor, Cataract, Posteriorly rotated ears, Micrognathia, Brushfield spots, High, narr... |
OMIM:214100 |
Warburg Micro Syndrome 2 |
|
Cataract, Asymmetry of the ears, Optic atrophy, Developmental cataract, Microcornea, Short nose, ... |
OMIM:614225 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Craniofacial hyperostosis, Cataract, Hypermelanotic macule, Abnormal... |
ORPHA:910 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of the temporomandibular joint, Corneal opacity, O... |
ORPHA:536471 |
Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Generalized hyperpigmentation, Hy... |
ORPHA:636 |
Hereditary Acrokeratotic Poikiloderma |
|
Premature loss of primary teeth, Abnormality of the dentition, Open bite, Trismus, Hypopigmented ... |
ORPHA:2907 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Iris flocculi |
OMIM:611788 |
Hec Syndrome |
|
Abnormal pupil morphology, Developmental cataract |
ORPHA:2119 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Marginal corneal dystrophy, Chorioretinal atrophy, Retinal degeneration, Corneal crystals |
OMIM:210370 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Tremor, Hyperkalemia, Hypomagnesemia, Mildly el... |
ORPHA:79102 |
Premature Aging Syndrome, Okamoto Type |
|
Cataract, Abnormal pinna morphology, Low-set ears |
OMIM:601811 |
Sympathetic Ophthalmia |
|
Papilledema, Retinal detachment, Cataract, Retinal hemorrhage, Anterior chamber cells, Posterior ... |
ORPHA:79098 |
Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level |
ORPHA:427 |
Oculoectodermal Syndrome |
|
Giant cell granuloma of mandible, Chorioretinal atrophy, Wide nasal bridge, Hyperpigmented streak... |
OMIM:600268 |
Lathosterolosis |
|
Thick upper lip vermilion, Cataract, Micrognathia, Wide nasal bridge, Gingival overgrowth, Abnorm... |
OMIM:607330 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Limbal dermoid, Linear hyperpigmentation, Sclerocornea |
OMIM:613001 |
Kindler Epidermolysis Bullosa |
|
Corneal opacity, Abnormal dental enamel morphology, Premature loss of primary teeth, Carious teet... |
ORPHA:2908 |
Mucopolysaccharidosis Type 3 |
|
Craniofacial hyperostosis, Mixed hearing impairment, Cataract, Corneal opacity, Thickened helices... |
ORPHA:581 |
Congenital Disorder Of Deglycosylation 1 |
|
Decreased sensory nerve conduction velocity, Corneal opacity, Elevated circulating alpha-fetoprot... |
OMIM:615273 |
Neuroocular Syndrome |
|
Lens coloboma, Microcornea, Downturned corners of mouth, Widely spaced teeth, Torus palatinus, Ir... |
OMIM:619539 |
Oculodentodigital Dysplasia |
|
Cataract, Abnormal pinna morphology, Selective tooth agenesis, Cleft upper lip, Carious teeth, Pr... |
OMIM:164200 |
Alagille Syndrome |
|
Keratoconus, Corneal dystrophy, Micrognathia, Long nose, Abnormal pupil morphology, Protruding ea... |
ORPHA:52 |
Mosaic Variegated Aneuploidy Syndrome |
|
Low-set, posteriorly rotated ears, Cataract, Corneal opacity, Micrognathia, Cleft palate, Abnorma... |
ORPHA:1052 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hyperpigmentation of the skin |
ORPHA:90791 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:614736 |
Ifap Syndrome 2 |
|
Keratitis, Keratoconjunctivitis sicca, Cataract, Angular cheilitis |
OMIM:619016 |
Mucopolysaccharidosis, Type Vii |
|
Corneal opacity, Sensorineural hearing impairment, Gingival overgrowth, Macroglossia, Widely spac... |
OMIM:253220 |
Frontorhiny |
|
Low-set, posteriorly rotated ears, Cataract, Hypoplasia of the maxilla, Hypoplastic frontal sinus... |
ORPHA:391474 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology, Aganglionic megacolon |
ORPHA:2151 |
Cowden Syndrome 5 |
|
Cataract, Hearing impairment, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, High pala... |
OMIM:615108 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hyperkalemia |
ORPHA:199296 |
Mucopolysaccharidosis Type 6 |
|
Sinusitis, Thick lower lip vermilion, Macroglossia, Opacification of the corneal stroma, Hearing ... |
ORPHA:583 |
Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Grayish enamel, Carious teeth, Wide mouth, Widely spaced teeth, Opacificat... |
OMIM:253000 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
Microphthalmia, Syndromic 2 |
|
Delayed eruption of teeth, Retinal detachment, Remnants of the hyaloid vascular system, Posterior... |
OMIM:300166 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Thin upper lip vermilion, Dental crowding, Short mandibular rami, Micrognathia, Hypoplasia of the... |
OMIM:170390 |
Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
Alpha-Mannosidosis, Infantile Form |
|
Mandibular prognathia, Optic disc pallor, Mixed hearing impairment, Cataract, Corneal opacity, Se... |
ORPHA:309282 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Papilledema, Persistence of primary teeth, Carious teeth, Developmental cataract, Retinal calcifi... |
ORPHA:93325 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Cataract, Oral mucosal blisters, Corneal scarring, Conjunctivitis, Narrow mouth, Enamel hypoplasia |
OMIM:226600 |
Fabry Disease |
|
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Hyperlipidemia, Sensor... |
ORPHA:324 |
Farber Disease |
|
Macular degeneration, Abnormal conjunctiva morphology, Corneal opacity, Opacification of the corn... |
ORPHA:333 |
Infantile Nephropathic Cystinosis |
|
Abnormal blood ion concentration, Corneal crystals, Pigmentary retinopathy, Abnormal cornea morph... |
ORPHA:411629 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy |
OMIM:616881 |
Hypercholesterolemia, Familial, 3 |
|
Hypercholesterolemia, Corneal arcus, Abnormal LDL cholesterol concentration |
OMIM:603776 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Uveitis, Cataract, Anterior chamber synechiae, Band keratopathy |
ORPHA:85410 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cataract, Elevated circulating creatine kinase concentration, Cleft upper lip, Cleft palate, Buph... |
OMIM:613150 |
Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Posterior... |
ORPHA:637 |
Intermediate Uveitis |
|
Anterior uveitis, Cataract, Macular scar, Band keratopathy, Posterior synechiae of the anterior c... |
ORPHA:279914 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Sclerocornea, Cleft palate, Pigmentary retinopathy, Peters anomaly, Iris coloboma, Hear... |
OMIM:309801 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Tongue atrophy, Optic nerve hypoplasia, Decreased nerve cond... |
ORPHA:101085 |
Chromosome Xp11.3 Deletion Syndrome |
|
Pigmentary retinopathy, Posterior subcapsular cataract, Cataract, Optic atrophy |
OMIM:300578 |
Congenital Tufting Enteropathy |
|
Cataract, Corneal erosion, Optic disc coloboma, Orofacial cleft, Punctate keratitis |
ORPHA:92050 |
Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Erythematous oral mucosa, Keratoconjunctivitis, Furrowed tongue, Opacification of the c... |
OMIM:158310 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cataract, Micrognathia, Brushfield spots, Conjugated hyperbilirubinemia, Sensorineural hearing im... |
OMIM:614866 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Cataract, Abnormality of the dentition, Hyperlipidemia, High palate, Hyperpigmentation of the ski... |
ORPHA:90153 |
Mucopolysaccharidosis Type 2 |
|
Papilledema, Abnormality of retinal pigmentation, Otosclerosis, Corneal opacity, Decreased nerve ... |
ORPHA:580 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... |
ORPHA:99027 |
Smith-Lemli-Opitz Syndrome |
|
Sclerocornea, Micrognathia, Advanced eruption of teeth, Iris coloboma, Low-set, posteriorly rotat... |
ORPHA:818 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, High palate, Megalocornea, Bifid uvula, Supernu... |
OMIM:211380 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... |
ORPHA:206436 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Hypouricemia, Dystonia, Decreased nerve conduc... |
OMIM:277900 |
Vici Syndrome |
|
Everted upper lip vermilion, Cataract, Median cleft lip, Macular atrophy, Elevated circulating cr... |
OMIM:242840 |
Trisomy 10P |
|
Posteriorly rotated ears, Abnormal auditory evoked potentials, Micrognathia, EEG with burst suppr... |
ORPHA:171929 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Generalized hyperpigmentation, Hyperkalemia |
ORPHA:361 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Cataract, Selective tooth agenesis, Micrognathia, High, narrow palate, Supernumerary... |
OMIM:234100 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Cataract, Posteriorly rotated ears, Cleft palate, Long philtrum, Microt... |
OMIM:601353 |
Frontofacionasal Dysplasia |
|
Cataract, Cleft upper lip, Orofacial cleft, Microcornea, Bifid uvula, Malar flattening, Short nos... |
OMIM:229400 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Papilledema, Abnormality of retinal pigmentation, Otosclerosis, Corneal opacity, Abnormal dental ... |
ORPHA:217085 |
Mucopolysaccharidosis Type 7 |
|
Corneal opacity |
ORPHA:584 |
Tangier Disease |
|
Facial diplegia, Hypertriglyceridemia, Corneal opacity, Hypocholesterolemia |
ORPHA:31150 |
Corneodermatoosseous Syndrome |
|
Abnormal dental enamel morphology, Corneal dystrophy, Carious teeth, Gingivitis, Hearing impairment |
ORPHA:3194 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Corneal erosion, Cataract |
OMIM:614878 |
Mosaic Trisomy 9 |
|
Corneal opacity, Micrognathia, Cleft palate, High palate, Low-set ears |
ORPHA:99776 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Cataract, Iridocyclitis, Keratoconjunctivitis, Pigmentary retinopathy, Tympanosclerosis, Enamel h... |
OMIM:240300 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Keratitis, Sensorineural hearing impairment, Choreoathetosis, Keratoconjunctivitis sicc... |
OMIM:278730 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Papilledema, Abnormality of retinal pigmentation, Otosclerosis, Corneal opacity, Abnormal dental ... |
ORPHA:217093 |
Neurocardiofaciodigital Syndrome |
|
Optic disc pallor, Cataract, Sclerocornea, Thin vermilion border, High palate, Retrognathia, Hear... |
OMIM:619869 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Delayed eruption of teeth, Cataract, Underfolded helix, Micrognathia, Supe... |
OMIM:268400 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Opacification of the corneal stroma |
OMIM:215250 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus |
OMIM:144010 |
Addison Disease |
|
Hyponatremia, Orthostatic hypotension, Hypercalcemia, Hyperkalemia, Increased circulating renin l... |
ORPHA:85138 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Orthostatic hypotension, Optic atrophy, Anisocoria, Abnormal autonomic nervous system physiology,... |
OMIM:231550 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Corneal opacity, Optic nerve hypoplasia, Corneal dystrophy, Micrognathia, Tented philtrum, Buphth... |
ORPHA:495875 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Schimke Immunoosseous Dysplasia |
|
Hypermelanotic macule, Wide nasal bridge, Astigmatism, Opacification of the corneal stroma, Micro... |
OMIM:242900 |
Peters Plus Syndrome |
|
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Microtia, second degree, Cataract, C... |
ORPHA:709 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypophosphatemia, Abno... |
ORPHA:411634 |
Weill-Marchesani Syndrome 2 |
|
Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Hypoplasia of the maxilla, Microspherophak... |
OMIM:608328 |
Wolf-Hirschhorn Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of the philtrum, Sclerocornea, Cleft upper lip, Mi... |
ORPHA:280 |
Meckel Syndrome |
|
Low-set, posteriorly rotated ears, Cataract, Abnormal chorioretinal morphology, Aplasia/Hypoplasi... |
ORPHA:564 |
Mucopolysaccharidosis, Type Vi |
|
Delayed eruption of teeth, Corneal opacity, Carious teeth, Macroglossia, Hearing impairment |
OMIM:253200 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Cataract, Optic nerve hypoplasia, Sclerocornea, Sensorineural hearing impair... |
OMIM:206900 |
Van Den Ende-Gupta Syndrome |
|
Posteriorly rotated ears, Dental crowding, Sclerocornea, Micrognathia, Hypoplasia of the maxilla,... |
OMIM:600920 |
Hermansky-Pudlak Syndrome |
|
Cataract, Partial albinism, Abnormal dental enamel morphology, Ocular albinism, Melanocytic nevus... |
ORPHA:79430 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
High-frequency sensorineural hearing impairment, Cataract, Sensorineural hearing impairment, Ante... |
OMIM:308940 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes... |
OMIM:241150 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Hyperkalemia, Hyperpigmentation of the skin |
ORPHA:90790 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Retinal detachment, Cataract, Conical tooth, Keratitis, Optic atrophy,... |
OMIM:308300 |
Wilson Disease |
|
Kayser-Fleischer ring |
ORPHA:905 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Generalized hyperpigmentation, Hyperkalemia, Abnormal circulating cholesterol conce... |
ORPHA:168558 |
Larsen Syndrome |
|
Corneal opacity, Cleft upper lip, Cleft palate, Hypodontia, Conductive hearing impairment, Malar ... |
OMIM:150250 |
Histiocytoid Cardiomyopathy |
|
Corneal opacity, Optic atrophy, Cleft palate, Megalocornea, Congenital aphakia |
ORPHA:137675 |
Mirage Syndrome |
|
Hyponatremia, Hyperkalemia |
OMIM:617053 |
Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
Mosaic Trisomy 1 |
|
Microretrognathia, Abnormal pinna morphology, Thick lower lip vermilion, Wide nasal bridge, Orofa... |
ORPHA:1692 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Alzahrani-Kuwahara Syndrome |
|
Smooth philtrum, Optic disc pallor, Cataract, Posteriorly rotated ears, Micrognathia, Narrow phil... |
OMIM:619268 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Generalized hyperpigmentation, Hyperkalemia, Abnormal circulating cholesterol conce... |
ORPHA:289548 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma |
ORPHA:42775 |
Dyggve-Melchior-Clausen Disease |
|
Corneal opacity, Hearing impairment |
ORPHA:239 |
Proximal Renal Tubular Acidosis |
|
Cataract, Band keratopathy, Enamel hypomineralization, Bicarbonaturia, Coloboma, Hypokalemia |
ORPHA:47159 |
Werner Syndrome |
|
Cataract, Elevated hemoglobin A1c, Retinal degeneration, Hypertriglyceridemia |
OMIM:277700 |
Williams Syndrome |
|
Elevated circulating creatine kinase concentration, Micrognathia, Tremor, Protruding ear, Microdo... |
ORPHA:904 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Hyperkalemia, Recurrent sinusitis, Vitiligo |
ORPHA:293978 |
East Syndrome |
|
Sensorineural hearing impairment, Hypokalemia, Increased circulating renin level, Hypomagnesemia,... |
ORPHA:199343 |
Coats Disease |
|
Exudative retinal detachment, Leukocoria |
OMIM:300216 |
Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Cockayne Syndrome |
|
Lentiglobus, Retinal degeneration, Intention tremor, Retinal atrophy, Abnormal dental morphology,... |
ORPHA:191 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Cataract, Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Toot... |
ORPHA:2250 |
Hutchinson-Gilford Progeria Syndrome |
|
High-frequency sensorineural hearing impairment, Delayed eruption of teeth, Corneal opacity, Hype... |
ORPHA:740 |
Mednik Syndrome |
|
Neonatal death, Sensorineural hearing impairment, Cataract, Increased circulating very long-chain... |
OMIM:609313 |
Revesz Syndrome |
|
Oral leukoplakia, Megalocornea, Fine, reticulate skin pigmentation, Leukocoria |
OMIM:268130 |
Gaucher Disease |
|
Corneal opacity, Elevated circulating C-reactive protein concentration, Tremor, Abnormality of sk... |
ORPHA:355 |
Stuve-Wiedemann Syndrome 1 |
|
Pursed lips, Micrognathia, Carious teeth, Blotching pigmentation of the skin, Thin vermilion bord... |
OMIM:601559 |
Kindler Syndrome |
|
Symblepharon, Carious teeth, Corneal erosion, Spotty hypopigmentation, Gingivitis, Periodontitis,... |
OMIM:173650 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Corneal opacity, Iris coloboma |
ORPHA:2396 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, High palate... |
ORPHA:79330 |
Limb Body Wall Complex |
|
Corneal opacity, Cleft lip, Wide nasal bridge, Cleft palate, Lens subluxation, Iris coloboma |
ORPHA:2369 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Lip telangiectasia, Thick vermilion border, Opacification of t... |
ORPHA:79280 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinal pigment epithelial mottling, Corneal crystals |
OMIM:219900 |
Enhanced S-Cone Syndrome |
|
Pigmentary retinopathy, Cataract |
OMIM:268100 |
Ophthalmoplegia, Familial Static |
|
Anisocoria |
OMIM:165000 |
Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia |
ORPHA:423 |
Congenital Fibrosis Of Extraocular Muscles |
|
Torticollis, Cataract, Optic nerve hypoplasia, Congenital sensorineural hearing impairment, Aniso... |
ORPHA:45358 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Retinal detachment, Optic disc pallor, Corneal opacity, Protruding ear, Astigmatism |
ORPHA:464311 |
Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Resting tremor, Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Postural tr... |
ORPHA:67036 |
Stickler Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Uveitis, Glossoptosis, Advanced eruption of teeth, Abnor... |
ORPHA:828 |
Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Charcot-Marie-Tooth Disease Type 1E |
|
Decreased nerve conduction velocity, Abnormal pupil morphology, Sensorineural hearing impairment,... |
ORPHA:90658 |
Pearson Syndrome |
|
Cataract, Median cleft lip and palate, Hypophosphatemia, Corneal stromal edema, Pigmentary retino... |
ORPHA:699 |
Fraser Syndrome 1 |
|
Corneal opacity, Abnormal pinna morphology, Dental crowding, Cleft upper lip, Cupped ear, Dental ... |
OMIM:219000 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Neonatal Marfan Syndrome |
|
Iridodonesis, Ectopia lentis, Micrognathia, High, narrow palate, Wide nasal bridge, Low-set ears,... |
ORPHA:284979 |
Roberts-Sc Phocomelia Syndrome |
|
Cataract, Corneal opacity, Posteriorly rotated ears, Abnormal pinna morphology, Micrognathia, Cle... |
OMIM:268300 |
Ciliary Dyskinesia, Primary, 1 |
|
Conductive hearing impairment, Abnormal cornea morphology, Chronic sinusitis, Absent frontal sinuses |
OMIM:244400 |
Charcot-Marie-Tooth Disease Type 4C |
|
Decreased motor nerve conduction velocity, Tongue atrophy, Sensorineural hearing impairment, Opti... |
ORPHA:99949 |
Liddle Syndrome |
|
Hypokalemia |
ORPHA:526 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Resting tremor, Cataract, Sensorineural hearing impairment, Optic atrophy, Head tremor |
ORPHA:314404 |
Multiple System Atrophy 1, Susceptibility To |
|
Tremor, Iris atrophy, Orthostatic hypotension, Abnormal autonomic nervous system physiology |
OMIM:146500 |
Ethylene Glycol Poisoning |
|
Facial palsy, Hyperkalemia, Hypocalcemia |
ORPHA:31826 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Opacification of the corneal stroma |
OMIM:313400 |
Collagenoma, Familial Cutaneous |
|
Iris atrophy, Sensorineural hearing impairment |
OMIM:115250 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia, Bilateral sensorineural hearing impairment |
OMIM:602722 |
Familial Pseudohyperkalemia |
|
Hyperkalemia |
ORPHA:90044 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Optic disc pallor, Corneal opacity, Protruding ear, Astigmatism, Macrotia |
ORPHA:464306 |
Monosomy 13Q14 |
|
Cataract, Micrognathia, Wide nasal bridge, Protruding ear, Low-set ears, Thickened helices, Iris ... |
ORPHA:1587 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Anisocoria, Deep philtrum |
ORPHA:289483 |
Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Leukocoria |
OMIM:219250 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:165550 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Mixed hearing impairment, Cataract, Dental c... |
OMIM:300990 |
Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Aplasia of the premaxilla, Submucous cleft hard palate, ... |
OMIM:157170 |
Osteogenesis Imperfecta |
|
Delayed eruption of teeth, Mixed hearing impairment, Abnormality of dental color, Corneal opacity... |
ORPHA:666 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Nongranulomatous uveitis, Anterior uveitis, Cataract, Choroidal neovascularization, Papilledema, ... |
ORPHA:91500 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
Miller Fisher Syndrome |
|
Anisocoria, EEG with generalized slow activity, Facial palsy, Mydriasis |
ORPHA:98919 |
Wiedemann-Rautenstrauch Syndrome |
|
Tremor, Downturned corners of mouth, Short philtrum, Premature loss of teeth, Low-set ears, Narro... |
ORPHA:3455 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Mildly elevated creatine kinase |
ORPHA:681 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Hypokalemia |
OMIM:613239 |
Facial Spasm |
|
Anisocoria |
OMIM:134300 |
Cystinosis, Nephropathic |
|
Hyponatremia, Hypomagnesemia, Retinal pigment epithelial mottling, Reduced blood urea nitrogen, H... |
OMIM:219800 |
Blau Syndrome |
|
Nongranulomatous uveitis, Cataract, Band keratopathy, Uveitis, Iritis, Abnormal cranial nerve mor... |
OMIM:186580 |
Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Orofacial cleft, Microdontia, Conductive hearing impairment, Abnormal salivary glan... |
ORPHA:2363 |
Trichinellosis |
|
Facial palsy, Trismus, Retinal hemorrhage, Anisocoria, Conjunctivitis, Abnormal uvea morphology, ... |
ORPHA:863 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cataract, Corneal opacity, Micrognathia, Cleft palate, Malar flattening |
OMIM:274000 |
Mucolipidosis Ii Alpha/Beta |
|
Increased serum beta-hexosaminidase, Micrognathia, Gingival overgrowth, Wide mouth, Macroglossia,... |
OMIM:252500 |
Scalp-Ear-Nipple Syndrome |
|
Mandibular prognathia, Cataract, Posteriorly rotated ears, Underdeveloped antitragus, Anteverted ... |
OMIM:181270 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia |
OMIM:605635 |
Romano-Ward Syndrome |
|
Hypokalemia, Abnormal autonomic nervous system physiology, Hearing impairment |
ORPHA:101016 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria |
OMIM:300858 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrow... |
ORPHA:769 |
Acromelic Frontonasal Dysostosis |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Cleft upper lip, Wide nasal brid... |
OMIM:603671 |
Bartsocas-Papas Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Cupped ear, Cleft palate, Popliteal pte... |
OMIM:263650 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Low-set, posteriorly rotated ears, Cataract, Hypoplasia of the maxilla, Wide nasal bridge, Cleft ... |
ORPHA:306542 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Corneal opacity, Aganglionic megacolon, Abnormal dental enamel morphology, Keratitis, Corneal ero... |
ORPHA:2273 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
Microphthalmia, Syndromic 6 |
|
Posteriorly rotated ears, Uplifted earlobe, Sclerocornea, Micrognathia, Retrognathia, Cleft palat... |
OMIM:607932 |
Knobloch Syndrome 1 |
|
Retinal detachment, Optic disc pallor, Band keratopathy, Chorioretinal atrophy, Developmental cat... |
OMIM:267750 |
Scalp-Ear-Nipple Syndrome |
|
Delayed eruption of teeth, Cataract, Underdeveloped antitragus, Abnormality of the dentition, Abn... |
ORPHA:2036 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Hyperkalemia |
ORPHA:275761 |
Familial Hyperaldosteronism Type I |
|
Hypokalemia, Tinnitus |
ORPHA:403 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Cataract, Hypoplasia of the nasal bone |
OMIM:118650 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Hypomagnesemia |
ORPHA:564178 |
Liddle Syndrome 2 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618114 |
Liddle Syndrome 3 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618126 |
Yunis-Varon Syndrome |
|
Cataract, Abnormal pinna morphology, Sclerocornea, Micrognathia, Premature loss of primary teeth,... |
ORPHA:3472 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypokalemia, Hypomagnesemia |
OMIM:618314 |
Ectopic Aldosterone-Producing Tumor |
|
Hypokalemia, Tinnitus, Decreased circulating renin level |
ORPHA:231632 |
Apparent Mineralocorticoid Excess |
|
Hypokalemia, Decreased circulating renin level |
OMIM:218030 |
Nephronophthisis 11 |
|
Anisocoria, Retinal degeneration |
OMIM:613550 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hyperlipidemia, Sensorineural hearing impairment, Hyperkalemia, Everted lower lip v... |
ORPHA:293987 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Athetosis, Hypokalemia, Tinnitus |
ORPHA:369929 |
Liddle Syndrome 1 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:177200 |
Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Micrognathia, Leukocoria, Orofacial cleft, Multiple cafe-au-lait spots |
ORPHA:1556 |
Familial Hyperaldosteronism Type Ii |
|
Hypokalemia, Tinnitus |
ORPHA:404 |
Mercury Poisoning |
|
Tremor, Hypokalemia, Dystonia |
ORPHA:330021 |
Fryns Syndrome |
|
Microretrognathia, Tented upper lip vermilion, Aganglionic megacolon, Cleft upper lip, Wide nasal... |
OMIM:229850 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Sensorineural hearing impairment, Hypokalemia, Increased circulating renin level, Hypomagnesemia,... |
OMIM:612780 |
Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration |
ORPHA:340 |
Exercise-Induced Malignant Hyperthermia |
|
Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:466650 |
Primary Unilateral Adrenal Hyperplasia |
|
Hypokalemia, Tinnitus, Decreased circulating renin level |
ORPHA:231580 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
High, narrow palate, Retrognathia, Abnormality iris morphology |
ORPHA:91387 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hypokalemia |
OMIM:611590 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:214700 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hyperkalemia, Hypocalcemia |
ORPHA:544482 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Athetosis, Hypokalemia, Decreased circulating renin level |
OMIM:615474 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypokalemia, Tinnitus, Decreased circulating renin level |
ORPHA:231625 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:201810 |
Familial Hyperaldosteronism Type Iii |
|
Hypokalemia, Tinnitus |
ORPHA:251274 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Cataract, Aganglionic megacolon, Uplifted earlobe, Cupped ear, Submuco... |
OMIM:235730 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Retinal dysplasia, Optic nerve dysplasia, Elevated circulating creatine kinase concentration, Opa... |
OMIM:615287 |
Autosomal Dominant Cutis Laxa |
|
Protruding ear, Corneal opacity, Low-set ears, Developmental cataract |
ORPHA:90348 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... |
OMIM:613095 |
Colchicine Poisoning |
|
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:31824 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Sensorineural hearing impairment, Corneal opacity |
ORPHA:2072 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia |
OMIM:188580 |
Neurooculorenal Syndrome |
|
Iris atrophy, Mixed hearing impairment, Micrognathia, Conjugated hyperbilirubinemia, Sensorineura... |
OMIM:620305 |
Gaucher Disease, Type Iiic |
|
Opacification of the corneal stroma |
OMIM:231005 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypokalemia, Decreased circulating renin level |
OMIM:613677 |
Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Hypophosphatemia |
OMIM:134600 |
Scorpion Envenomation |
|
Increased circulating NT-proBNP concentration, Tremor, Hypokalemia, Increased circulating creatin... |
ORPHA:466677 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Hypokalemia, Increased circulating renin level, Abnormal choroid morphology |
OMIM:607364 |
Retinoblastoma |
|
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocoria, Uveiti... |
ORPHA:790 |
Hypomagnesemia 2, Renal |
|
Hypokalemia, Hypomagnesemia |
OMIM:154020 |
Renal Tubular Acidosis Iii |
|
Hypokalemia |
OMIM:267200 |
Digeorge Syndrome |
|
Sclerocornea, Micrognathia, High, narrow palate, Cleft palate, High palate, Hypocalcemia, Low-set... |
OMIM:188400 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Sensorineural hearing impairment, Hypochloremia, Hypokalemia |
OMIM:613090 |
Osteoporosis-Pseudoglioma Syndrome |
|
Retinal calcification, Iris atrophy, Cataract, Absent anterior chamber of the eye |
OMIM:259770 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... |
OMIM:227810 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Hypokalemia, Hyperpigmentation of the skin, Decreased circulating renin level |
ORPHA:90795 |
Nelson Syndrome |
|
Abnormality of the sphenoid sinus, Hypokalemia, Optic nerve compression, Generalized hyperpigment... |
ORPHA:199244 |
Cholera |
|
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration |
ORPHA:173 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypokalemia |
OMIM:611489 |
Apparent Mineralocorticoid Excess |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:320 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Decreased circulating renin level, Hyperkalemia, Low-set ears, Conductive hearing i... |
OMIM:201750 |
Vascular Ehlers-Danlos Syndrome |
|
Keratoconus, Premature loss of primary teeth, Abnormality of the dentition, Carious teeth, High, ... |
ORPHA:286 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Abnormal pupil morph... |
ORPHA:261552 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Hyperkalemia, Hypochloremia |
ORPHA:90794 |
Osteootohepatoenteric Syndrome |
|
Hypokalemia, Increased serum bile acid concentration, Hearing impairment |
OMIM:619377 |
Retinoblastoma |
|
Retinal calcification, Leukocoria, Cleft palate |
OMIM:180200 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypokalemia, Hyperpigmentation of the skin, Decreased circulating renin level |
OMIM:202010 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin... |
ORPHA:99826 |
Gitelman Syndrome |
|
Hypokalemia, Increased circulating renin level, Hypomagnesemia |
OMIM:263800 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Protruding ear, Hypochloremia, Hypokalemia, Increased circulating renin level, Bila... |
ORPHA:89938 |
Pituitary Adenoma 4, Acth-Secreting |
|
Hypokalemia |
OMIM:219090 |
Yunis-Varon Syndrome |
|
Thin upper lip vermilion, Cataract, Sclerocornea, Micrognathia, Premature loss of primary teeth, ... |
OMIM:216340 |
Adrenocortical Carcinoma |
|
Hypokalemia |
ORPHA:1501 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... |
OMIM:601678 |
Helix Syndrome |
|
Hypokalemia, Hypermagnesemia |
OMIM:617671 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:90793 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Sensorineural hearing impairment, Hypochloremia, Hypokalemia |
OMIM:602522 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
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Aganglionic megacolon, Keratitis, Cleft palate, Opacification of the corneal stroma, Recurrent co... |
OMIM:308205 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
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Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... |
ORPHA:90038 |
Juvenile Polyposis Syndrome |
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Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
Bartter Syndrome, Type 2, Antenatal |
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Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Increased circula... |
OMIM:241200 |
Primary Fanconi Renotubular Syndrome |
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Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc... |
ORPHA:3337 |
Gitelman Syndrome |
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Hypermagnesemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Tinnitus |
ORPHA:358 |
Immunodeficiency 87 And Autoimmunity |
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Cleft palate, Hypokalemia, Hypertriglyceridemia, Elevated circulating C-reactive protein concentr... |
OMIM:619573 |
Distal Renal Tubular Acidosis |
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Hypokalemia, Enlarged vestibular aqueduct, Sensorineural hearing impairment |
ORPHA:18 |
Leprechaunism |
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Protruding ear, Hypokalemia, Thick vermilion border, Increased circulating renin level, Low-set ears |
ORPHA:508 |
Tsh-Secreting Pituitary Adenoma |
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Tremor, Hypokalemia |
ORPHA:91347 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
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Hyponatremia, Hypokalemia |
OMIM:618426 |
Vipoma |
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Hypokalemia, Hypercalcemia |
ORPHA:97282 |
Generalized Glucocorticoid Resistance Syndrome |
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Hypokalemia |
ORPHA:786 |