| Trichomegaly |
|
Cataract, Long eyelashes |
OMIM:190330 |
| Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
| Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
| Cataract 35 |
|
Cataract |
OMIM:609376 |
| Cataract 36 |
|
Cataract |
OMIM:613887 |
| Cataract 29 |
|
Cataract |
OMIM:115800 |
| Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
| Cataract 13 With Adult I Phenotype |
|
Developmental cataract |
OMIM:116700 |
| Cataract 37 |
|
Developmental cataract |
OMIM:614422 |
| Cataract 45 |
|
Developmental cataract |
OMIM:616851 |
| Cataract 38 |
|
Developmental cataract |
OMIM:614691 |
| Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
| Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
| Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
| Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
| X-Linked Retinoschisis |
|
Cataract, Retinoschisis |
ORPHA:792 |
| Corneal Dystrophy, Groenouw Type I |
|
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
| Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
| Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
| Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract, Rod-cone dystrophy |
OMIM:300719 |
| Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
| Regional Odontodysplasia |
|
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... |
ORPHA:83450 |
| Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
| Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Optic atrophy, Cataract |
ORPHA:2253 |
| Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Chorioretinal coloboma |
OMIM:274205 |
| Peroxisome Biogenesis Disorder 10A (Zellweger) |
|
Cataract, Downslanted palpebral fissures, Micrognathia, Epiphyseal stippling, Epicanthus, High pa... |
OMIM:614882 |
| Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
| Wagner Vitreoretinopathy |
|
Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Cataract, V... |
OMIM:143200 |
| Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Hearing impairment, Decreased nerve conduction velocity, Abnormal pupil morphology, Elevated circ... |
ORPHA:101082 |
| Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Juvenile cataract |
OMIM:212500 |
| Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Optic atrophy, Upslanted palpebral fissure, Sensorineural hearing impairment, Epicanthus, Ptosis,... |
OMIM:620086 |
| Birdshot Chorioretinopathy |
|
Abnormal chorioretinal morphology, Choroidal neovascularization, Cataract, Retinal thinning, Epir... |
ORPHA:179 |
| Retinitis Pigmentosa 40 |
|
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... |
OMIM:613801 |
| Dentinogenesis Imperfecta |
|
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Hearing impairment, Gen... |
ORPHA:49042 |
| Pupillary Membrane, Persistence Of |
|
Persistent pupillary membrane, Developmental cataract, Megalocornea |
OMIM:178900 |
| Coats Disease |
|
Cataract, Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Abnormal retinal vascular ... |
ORPHA:190 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
| Foveal Hypoplasia 1 |
|
Hypoplasia of the fovea, Presenile cataracts |
OMIM:136520 |
| Cataract-Microcornea Syndrome |
|
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy |
ORPHA:1377 |
| Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Optic disc pallor, Cataract |
OMIM:165300 |
| Amelogenesis Imperfecta |
|
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... |
ORPHA:88661 |
| Central Retinal Vein Occlusion |
|
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Abnorma... |
ORPHA:411527 |
| Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane, Retinal detachment |
OMIM:620253 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
| Uncombable Hair Syndrome 2 |
|
Juvenile cataract |
OMIM:617251 |
| Retinitis Pigmentosa 9 |
|
Cataract, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atr... |
OMIM:180104 |
| Winchester Syndrome |
|
Carpal osteolysis, Gingival overgrowth, Osteolysis involving tarsal bones, Corneal opacity, Gener... |
OMIM:277950 |
| Bardet-Biedl Syndrome 18 |
|
Cataract, Rod-cone dystrophy, Retinal dystrophy |
OMIM:615995 |
| Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Cataract, Lens subluxation, Vitreous floaters, Retinal detachment, Peripheral vitreoretinal degen... |
OMIM:614292 |
| Cone-Rod Dystrophy 16 |
|
Cataract, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sh... |
OMIM:614500 |
| Stickler Syndrome Type 2 |
|
Cataract, Retinopathy, Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity |
ORPHA:90654 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... |
OMIM:305390 |
| Retinitis Pigmentosa 84 |
|
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... |
OMIM:618220 |
| Exudative Vitreoretinopathy 1 |
|
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... |
OMIM:133780 |
| Familial Exudative Vitreoretinopathy |
|
Cataract, Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional ret... |
ORPHA:891 |
| Retinitis Pigmentosa 4 |
|
Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spi... |
OMIM:613731 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Cataract |
OMIM:156850 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Cataract |
ORPHA:254704 |
| Trisomy 9P |
|
Dental crowding, Downturned corners of mouth, Non-midline cleft of the upper lip, Downslanted pal... |
ORPHA:236 |
| Microphthalmia/Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Corneal guttata, Cataract, Retinal dots, Optically empty vitreous, Retinal detachment, Snowflake ... |
OMIM:193230 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract, Limb ataxia, Gait ataxia |
OMIM:617133 |
| Morm Syndrome |
|
Cataract, Retinal atrophy, Retinal dystrophy |
ORPHA:75858 |
| Retinopathy Of Prematurity |
|
Cataract, Abnormal macular morphology, Retinal arteriolar tortuosity, Tractional retinal detachme... |
ORPHA:90050 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Aplasia/Hypoplasia of the iris, Ptosis, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
| Hypoalphalipoproteinemia, Primary, 2 |
|
Cataract, Corneal arcus |
OMIM:618463 |
| Mucopolysaccharidosis, Type Iva |
|
Platyspondyly, Mandibular prognathia, Hypoplasia of the odontoid process, Carious teeth, Hearing ... |
OMIM:253000 |
| Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Ectopia lentis, Corneal opacity |
OMIM:613086 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Cataract, Kyphosis, Epicanthus |
ORPHA:85288 |
| Mucopolysaccharidosis Type 4 |
|
Platyspondyly, Abnormality of the dentition, Carious teeth, Hearing impairment, Spinal canal sten... |
ORPHA:582 |
| Spastic Paraparesis And Deafness |
|
Cataract |
OMIM:312910 |
| 2Q24 Microdeletion Syndrome |
|
Cataract, Abnormality iris morphology, Downslanted palpebral fissures, Low-set, posteriorly rotat... |
ORPHA:1617 |
| Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract |
OMIM:619813 |
| Intellectual Developmental Disorder, X-Linked 82 |
|
EEG abnormality, Scoliosis, Kyphosis |
OMIM:300518 |
| Usher Syndrome Type 2 |
|
Iris hypopigmentation, Cataract, Carious teeth, Abnormal dental enamel morphology, Microdontia, S... |
ORPHA:231178 |
| Galactosemia Ii |
|
Cataract |
OMIM:230200 |
| Liang-Wang Syndrome |
|
Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Diastema, Downsl... |
OMIM:618729 |
| Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... |
OMIM:617319 |
| Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
|
High, narrow palate, Cataract, Low-set ears, Hypermobility of interphalangeal joints, Downslanted... |
ORPHA:3433 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:241520 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonu... |
ORPHA:231736 |
| Brachyolmia Type 1, Hobaek Type |
|
Platyspondyly, Osteopenia, Kyphosis, Lumbar hypolordosis, Squared-off platyspondyly, Intervertebr... |
OMIM:271530 |
| Galactosemia Iv |
|
Cataract |
OMIM:618881 |
| Retinitis Pigmentosa 13 |
|
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... |
OMIM:600059 |
| Flynn-Aird Syndrome |
|
Cataract, Carious teeth, Progressive sensorineural hearing impairment, Joint stiffness, Increased... |
OMIM:136300 |
| Microphthalmia, Isolated 5 |
|
Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule... |
OMIM:611040 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
| Cataract 21, Multiple Types |
|
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Retinal detach... |
OMIM:610202 |
| Cataract 9, Multiple Types |
|
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma |
OMIM:604219 |
| Megalocornea |
|
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin... |
OMIM:309300 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Cataract, Macrotia, Reduced bone mineral density, Posteriorly rotated ears, Kyphosis, Delayed oss... |
OMIM:618392 |
| Myopathy, Tubular Aggregate, 1 |
|
Flexion contracture, Abnormal pupil morphology, Joint contracture, Elevated circulating creatine ... |
OMIM:160565 |
| X-Linked Retinal Dysplasia |
|
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation |
ORPHA:1852 |
| Short Syndrome |
|
Abnormality of the dentition, Abnormal mandible morphology, Hypoplasia of the iris, Megalocornea,... |
ORPHA:3163 |
| Myopia 28, Autosomal Recessive |
|
Cataract, Retinal detachment |
OMIM:619781 |
| Mucopolysaccharidosis, Type Ivb |
|
Platyspondyly, Mandibular prognathia, Hypoplasia of the odontoid process, Carious teeth, Hearing ... |
OMIM:253010 |
| Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... |
OMIM:616108 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:618883 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
| Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Cataract, Microcornea, Malar prominence, Micrognathia, Abnormality of peripheral nerve conduction... |
ORPHA:48431 |
| Leber Congenital Amaurosis 2 |
|
Cataract, Pigmentary retinopathy, Keratoconus, Attenuation of retinal blood vessels, Fundus atrop... |
OMIM:204100 |
| Cataract 47 |
|
Cataract, Microcornea |
OMIM:612018 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Abnormal dental morphology, Hypophosphatemic rickets, Kyphoscoliosis, Corneal opacity... |
OMIM:163200 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract, Neonatal death |
OMIM:273680 |
| Cataract-Aberrant Oral Frenula-Growth Delay Syndrome |
|
Cataract, Ptosis, Epicanthus |
ORPHA:1373 |
| Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Cataract, Elevated circulating creatine kinase concentration, Hyperlordosis, Scoliosis, Kyphosis,... |
OMIM:617404 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... |
OMIM:312700 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Low-set ears, Micrognathia, Narrow mouth, Sparse eyelashes, Epicanthus, Cataract, Microcornea, Sh... |
OMIM:257850 |
| Vitreoretinochoroidopathy |
|
Pigmentary retinopathy, Microcornea, Retinal arteriolar constriction, Abnormality of chorioretina... |
OMIM:193220 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Ankle flexion contracture, Abnormal circulating creatine kinase concentration, Sensorineural hear... |
OMIM:617519 |
| Blepharoptosis, Myopia, And Ectopia Lentis |
|
Ectopia lentis, Congenital ptosis |
OMIM:110150 |
| Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Decreased thalamic volume |
OMIM:618646 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Cataract, Microcornea, Upslanted palpebral fissure, Epicanthus |
ORPHA:2528 |
| Ck Syndrome |
|
Dental crowding, Retrognathia, Micrognathia, Abnormal cortical bone morphology, Upslanted palpebr... |
OMIM:300831 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Leber Congenital Amaurosis 8 |
|
Cataract, Pigmentary retinopathy, Keratoconus, Nummular pigmentation of the fundus, Choriocapilla... |
OMIM:613835 |
| Neovascular Glaucoma |
|
Abnormal optic nerve morphology, Retinal vein occlusion, Rubeosis iridis, Uveal ectropion, Retino... |
ORPHA:94058 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Cataract, Abnormality of retinal pigmentation, Optic disc pallor, Retinal detachment, Chorioretin... |
OMIM:251270 |
| Stickler Syndrome, Type V |
|
Cataract, Retinal detachment, Vitreoretinopathy |
OMIM:614284 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Scoliosis, Abnormal auditory evoked potentials, Facial... |
OMIM:601382 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Low-set ears, Dental crowding, Downturned corners of mouth, Long philtrum, Downslanted palpebral ... |
OMIM:615761 |
| Rubinstein-Taybi Syndrome 2 |
|
Highly arched eyebrow, Narrow palate, Carious teeth, Dental malocclusion, Retrognathia, Downslant... |
OMIM:613684 |
| Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Widely-spaced maxillary central incisors, Downslanted palpebral... |
OMIM:300602 |
| Microphthalmia, Syndromic 13 |
|
Microcornea, Chorioretinal coloboma, Kyphoscoliosis, Ptosis, Anteverted ears, Iris coloboma, Wide... |
OMIM:300915 |
| Exudative Vitreoretinopathy 6 |
|
Exudative vitreoretinopathy, Retinal exudate, Cataract, Nuclear cataract, Posterior vitreous deta... |
OMIM:616468 |
| Hereditary Fructose Intolerance |
|
Cataract, Hypophosphatemia, Hyperuricemia, Hypermagnesemia |
ORPHA:469 |
| Exudative Vitreoretinopathy 7 |
|
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold |
OMIM:617572 |
| Distal Deletion 6P |
|
Low-set ears, Abnormality of the dentition, Downturned corners of mouth, Hearing impairment, Hypo... |
ORPHA:96125 |
| Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
| Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Elevated circulating phytanic acid concentration, Micrognathia, Epiphyseal stippling, Upslanted p... |
OMIM:215100 |
| Retinal Dystrophy And Obesity |
|
Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Astigmatism, Retinal d... |
OMIM:616188 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hypoplasia of the maxilla, Abnormally prominent line of Schwalbe, Abnormal auditory evoked potent... |
OMIM:109120 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormal auditory evoked potentials, Long philtrum, Downslanted palpebral fissures, Long eyelashe... |
OMIM:617523 |
| Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract |
OMIM:600881 |
| Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Hypoplasia of the iris, Megalocornea, Downslanted palpebral fissures, Micrognathia, O... |
ORPHA:2479 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Optic atrophy, Cataract, Chorioretinal coloboma, Posterior embryotoxon, Retinal detachment, Corne... |
ORPHA:1473 |
| Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
| Exfoliation Syndrome |
|
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... |
OMIM:177650 |
| Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
| Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
| Kahrizi Syndrome |
|
Cataract, Elbow contracture, Knee flexion contracture, Thick vermilion border, Iris coloboma, Tho... |
OMIM:612713 |
| Oculoskeletodental Syndrome |
|
Dysplastic corpus callosum, Abnormal thalamus morphology, Hypercalcemia, Hypocalcemia |
ORPHA:557003 |
| Spastic Paraplegia 18B, Autosomal Recessive |
|
High palate, Scoliosis, Kyphosis, Joint contracture |
OMIM:611225 |
| Osteomesopyknosis |
|
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Abnormal cortical bone morpholog... |
ORPHA:2777 |
| Exudative Vitreoretinopathy 3 |
|
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold |
OMIM:605750 |
| Metatropic Dysplasia |
|
Cataract, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Coarse metaphyse... |
ORPHA:2635 |
| Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
| Hypomelanosis Of Ito |
|
Cataract, Iris coloboma, Thick lower lip vermilion, Epicanthus, Irregularly spaced teeth, Scolios... |
OMIM:300337 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypophosphatemia, Hypercalcemia, Osteomalacia |
OMIM:600740 |
| Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Highly arched eyebrow, Congenital fibrosis of extraocular muscles, Congenital bilateral ptosis, T... |
OMIM:609384 |
| Acrootoocular Syndrome |
|
High, narrow palate, Low-set ears, Dental malocclusion, Delayed eruption of teeth, Atresia of the... |
ORPHA:2980 |
| Alpha-Mannosidosis |
|
Synostosis of joints, Cataract, Craniofacial hyperostosis, Mandibular prognathia, Dental malocclu... |
ORPHA:61 |
| Cataract 1, Multiple Types |
|
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract |
OMIM:116200 |
| Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Cataract, Prelingual sensorineural hearing impairment, Progressive sensorineural hearing impairme... |
ORPHA:436174 |
| Refractory Celiac Disease |
|
Hypoalbuminemia, Normocytic anemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... |
ORPHA:398063 |
| Leukoencephalopathy With Vanishing White Matter 2 |
|
Optic atrophy, Cataract |
OMIM:620312 |
| Otodental Syndrome |
|
Carious teeth, Periodontitis, Lens coloboma, Iris coloboma, Cataract, Microcornea, Abnormality of... |
ORPHA:2791 |
| Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe... |
OMIM:225200 |
| Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
| Hall-Riggs Syndrome |
|
Platyspondyly, Thick lower lip vermilion, Hypoplasia of the primary teeth, Epicanthus, Enamel hyp... |
OMIM:234250 |
| Usher Syndrome |
|
Cataract, Carious teeth, Abnormal dental enamel morphology, Astigmatism, Microdontia, Sensorineur... |
ORPHA:886 |
| Exudative Vitreoretinopathy 4 |
|
Retinal exudate, Exudative vitreoretinopathy, Posterior vitreous detachment, Tractional retinal d... |
OMIM:601813 |
| Morning Glory Disc Anomaly |
|
Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma |
ORPHA:35737 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Carious teeth, Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Widely spaced ... |
OMIM:619229 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Optic atrophy, Pigmentary retinopathy, Joint contracture of the hand, Cataract, Impaired vibratio... |
OMIM:609033 |
| Woolly Hair |
|
Cataract, Abnormal pupil morphology, Sparse lateral eyebrow |
ORPHA:170 |
| Aniridia-Intellectual Disability Syndrome |
|
Cataract, Aniridia, Ectopia lentis |
ORPHA:1068 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Cataract, Widely-spaced maxillary central incisors, Thick lower lip vermilion, Micrognathia, Shor... |
OMIM:608227 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Cataract, Ptosis, Kyphosis, Joint hypermobility |
ORPHA:1875 |
| Eales Disease |
|
Macular edema, Rubeosis iridis, Retinal thinning, Peripheral retinal neovascularization, Vitritis... |
ORPHA:40923 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Conical tooth, Optic atrophy, Dental malocclusion, Unilateral narrow palpebral fissure,... |
OMIM:618727 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent... |
ORPHA:1028 |
| Intellectual Disability, Birk-Barel Type |
|
High, narrow palate, Highly arched eyebrow, Foot joint contracture, Micrognathia, Open mouth, Ten... |
ORPHA:166108 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:193100 |
| Whistling Face Syndrome, Recessive Form |
|
Whistling appearance, Short palpebral fissure, Microglossia, Shoulder flexion contracture, Long p... |
OMIM:277720 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... |
OMIM:193235 |
| Myopia 17, Autosomal Dominant |
|
Presenile cataracts, Retinal hole |
OMIM:608367 |
| Cataract 8, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:115665 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Cataract, Abnormal auditory evoked potentials, Os odontoideum, Wide mouth, Irregular dentition, B... |
OMIM:619260 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... |
OMIM:204700 |
| Oligodontia |
|
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... |
ORPHA:99798 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Cataract, Chorioretinal coloboma, Corneal scarring, Retinal detachment, Macular atrophy, Buphthal... |
OMIM:212550 |
| Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Cataract, Microcornea, Rod-cone dystrophy |
OMIM:619082 |
| Amelocerebrohypohidrotic Syndrome |
|
Yellow-brown discoloration of the teeth, Abnormal dental enamel morphology, Amelogenesis imperfec... |
ORPHA:1946 |
| Arthrogryposis, Distal, Type 2A |
|
Joint contracture of the hand, Hearing impairment, Pursed lips, Narrow mouth, Hip contracture, Ep... |
OMIM:193700 |
| Coasy Protein-Associated Neurodegeneration |
|
Abnormal thalamus morphology |
ORPHA:397725 |
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Optic atrophy, Cataract, Macular degeneration, Retinal degeneration, Rod-cone dystrophy |
OMIM:204200 |
| Brachyolmia Type 1, Toledo Type |
|
Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Precocious... |
OMIM:271630 |
| Leber Congenital Amaurosis 6 |
|
Cataract, Keratoconus, Attenuation of retinal blood vessels |
OMIM:613826 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Low-set ears, Tooth malposition, Micrognathia, Narrow mouth, Abnormal optic disc morphology, Tars... |
ORPHA:363417 |
| Intellectual Disability And Myopathy Syndrome |
|
Dental malocclusion, Widely-spaced maxillary central incisors, Lumbar hyperlordosis, Limited elbo... |
OMIM:619719 |
| Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Low-set ears, Long philtrum, Long eyelashes, Narrow mouth, Epicanthus, Posteriorly rotated ears, ... |
OMIM:615502 |
| Senior-Loken Syndrome |
|
Cataract, Abnormality of retinal pigmentation, Retinal dystrophy, Ataxia |
ORPHA:3156 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Carious teeth, Open bite, Low-set, posteriorly rotated ears, Micrognathia, Reduced bone mineral d... |
ORPHA:2617 |
| Lowry-Maclean Syndrome |
|
High, narrow palate, Talon cusp, Hypoplasia of the maxilla, Low-set ears, Osteopenia, Downturned ... |
ORPHA:2409 |
| Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
| Retinitis Pigmentosa 2 |
|
Cataract, Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degenerat... |
OMIM:312600 |
| Microphthalmia/Coloboma 10 |
|
Iris coloboma, Microcoria, Chorioretinal coloboma |
OMIM:616428 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Low-set ears, Highly arched eyebrow, Short palpebral fissure, Arthrogryposis multiplex congenita,... |
OMIM:615834 |
| Alopecia Antibody Deficiency |
|
Abnormality of dental color, Abnormal eyelash morphology, Conductive hearing impairment, Aplasia/... |
ORPHA:1006 |
| Cataract 22, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:609741 |
| Uremic Pruritus |
|
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
| Macular Dystrophy, Retinal, 3 |
|
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... |
OMIM:608850 |
| Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Ataxia, Optic atrophy, Cataract, Distal sensory impairment, Subcapsular cataract, Dysmetria, Rod-... |
OMIM:612674 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Focal T2 hyperintense thalamic lesion, Elevated circulating pristanic acid concentration |
OMIM:613724 |
| Amelogenesis Imperfecta, Type Ic |
|
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... |
OMIM:204650 |
| Aniridia 2 |
|
Lens subluxation, Cataract, Aniridia, Iris coloboma |
OMIM:617141 |
| Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cataract, Epicanthus |
ORPHA:2489 |
| Spondylo-Ocular Syndrome |
|
Iris hypopigmentation, Cataract, Platyspondyly, Low-set ears, Long philtrum, Abnormal eyebrow mor... |
ORPHA:85194 |
| Bruck Syndrome 1 |
|
Platyspondyly, Abnormality of the dentition, Ankle flexion contracture, Vertebral wedging, Pteryg... |
OMIM:259450 |
| Isolated Ectopia Lentis |
|
Cataract, Ectopia lentis, Ectopia pupillae, Joint stiffness, Malar flattening, Mandibular prognathia |
ORPHA:1885 |
| Proteus-Like Syndrome |
|
Cataract, Mandibular prognathia, Downslanted palpebral fissures, Open bite, Abnormal pupil morpho... |
ORPHA:2969 |
| Leukodystrophy, Hypomyelinating, 5 |
|
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Decreased motor n... |
OMIM:610532 |
| Anterior Segment Dysgenesis 3 |
|
Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po... |
OMIM:601631 |
| Linear Verrucous Nevus Syndrome |
|
Astrocytoma, Hypophosphatemia |
ORPHA:2611 |
| Mcdonough Syndrome |
|
Short palpebral fissure, Mandibular prognathia, Dental malocclusion, Open bite, Low-set, posterio... |
ORPHA:2471 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Arthrogryposis multiplex congenita, Elbow flexion contracture, Hip contracture, Knee flexion cont... |
OMIM:600175 |
| Baralle-Macken Syndrome |
|
High, narrow palate, Cataract, Upslanted palpebral fissure, Dystonia, Kyphosis |
OMIM:619255 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Low-set ears, Arthrogryposis multiplex congenita, Retrognathia, Downslanted palpebral fissures, M... |
OMIM:611890 |
| Leber Congenital Amaurosis 7 |
|
Cataract, Keratoconus |
OMIM:613829 |
| Leber Congenital Amaurosis 1 |
|
Keratoconus, Pigmentary retinopathy, Cataract, Attenuation of retinal blood vessels, Optic disc d... |
OMIM:204000 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Decreased movement range in interphalangeal joints, Cataract, Elevated circulating creatine kinas... |
OMIM:609115 |
| Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... |
OMIM:616221 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Tooth abscess, Hypophosphatemia, Hypocalcemia, Iron deficiency anemia |
ORPHA:89937 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cataract, Hypomagnesemia, Hypocalcemia, Hypokalemia, Glossitis |
OMIM:175500 |
| Horizontal Gaze Palsy With Progressive Scoliosis |
|
Short neck, Scoliosis, Kyphosis, Sensorineural hearing impairment |
ORPHA:2744 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Cataract, Sparse eyebrow, Sparse eyelashes, Elevated circulating creatine kinase concentration, J... |
OMIM:615704 |
| Dent Disease 2 |
|
Hypophosphatemia, Elevated circulating creatine kinase concentration |
OMIM:300555 |
| Hemifacial Atrophy, Progressive |
|
Dental malocclusion, Delayed eruption of teeth, Horner syndrome, Blepharophimosis, Tongue atrophy... |
OMIM:141300 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Elevated circulating creatine kinase concentration, Short neck, Hyperlordosis, Flexion contractur... |
OMIM:300718 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Low-set ears, Joint contracture of the hand, Pursed lips, Micrognathia, Narrow mouth, Hip contrac... |
OMIM:255800 |
| Parastremmatic Dwarfism |
|
Short neck, Scoliosis, Kyphosis, Flexion contracture |
OMIM:168400 |
| Cataract 3, Multiple Types |
|
Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract |
OMIM:601547 |
| Bethlem Myopathy 2 |
|
Elevated circulating creatine kinase concentration, Distal joint hypermobility, Scoliosis, Kyphos... |
OMIM:616471 |
| Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic atrophy, Cataract, Microcornea, Retinopathy, Macular atrophy, Optic disc pallor |
OMIM:616171 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
High-frequency hearing impairment, Bilateral ptosis, Hypomagnesemia, Hypophosphatemic rickets, Op... |
OMIM:619743 |
| Retinitis Pigmentosa 86 |
|
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... |
OMIM:618613 |
| Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
|
Decreased thalamic volume |
OMIM:613668 |
| Andersen-Tawil Syndrome |
|
Low-set ears, Abnormality of the dentition, Short palpebral fissure, Hypoplasia of the maxilla, D... |
ORPHA:37553 |
| Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
ORPHA:94090 |
| Porphyria, Congenital Erythropoietic |
|
Osteopenia, Joint contracture of the hand, Erythrodontia, Pathologic fracture, Corneal scarring, ... |
OMIM:263700 |
| Cohen Syndrome |
|
High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill... |
OMIM:216550 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
| Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder |
|
Cataract, Highly arched eyebrow, Long philtrum, Thin upper lip vermilion, Ptosis, Macrotia |
OMIM:616154 |
| Kenny-Caffey Syndrome, Type 1 |
|
Carious teeth, Hypomagnesemia, Hypocalcemia, Decreased skull ossification, Calvarial osteosclerosis |
OMIM:244460 |
| Persistent Hyperplastic Primary Vitreous |
|
Cataract, Hyaloid vascular remnant and retrolental mass, Microcornea, Tractional retinal detachme... |
ORPHA:91495 |
| Adenohypophysitis |
|
Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit... |
ORPHA:95512 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Decreased compound muscle action potential amplitude, Joint hypermobility, Flexion contracture, S... |
OMIM:618323 |
| Developmental And Epileptic Encephalopathy 66 |
|
Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Downslanted palp... |
OMIM:618067 |
| Carabelli Anomaly Of Maxillary Molar Teeth |
|
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar |
OMIM:114700 |
| Panhypophysitis |
|
Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit... |
ORPHA:95513 |
| Familial Dysautonomia |
|
Optic atrophy, Osteolysis, Abnormal pupil morphology, Heterochromia iridis, Hyponatremia, Orthost... |
ORPHA:1764 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Vertebral wedging, Abnormal form of the vertebral bodies, Joint stiffness, Joint hypermobility, B... |
ORPHA:40 |
| Woolly Hair Nevus |
|
Heterochromia iridis, Enlarged vestibular aqueduct, Persistent pupillary membrane, Widely-spaced ... |
ORPHA:79414 |
| Duane Retraction Syndrome |
|
Hearing impairment, Chorioretinal coloboma, Micrognathia, Sensorineural hearing impairment, Short... |
ORPHA:233 |
| Filippi Syndrome |
|
Optic atrophy, Serrated incisors, Abnormal dental morphology, Microdontia, Dystonia, Hypodontia, ... |
OMIM:272440 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Thick lower lip vermilion, Widely spaced teeth, Astigmatism, Long palp... |
OMIM:619797 |
| Unilateral Ocular Duplication |
|
Microcornea, Abnormal eyebrow morphology, Abnormal pupil morphology, Median cleft upper lip, Blep... |
ORPHA:3374 |
| Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Thalamic calcification |
OMIM:618824 |
| Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
|
Ataxia, Optic atrophy, Cataract |
ORPHA:329314 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Oculofaciocardiodental Syndrome |
|
Tooth malposition, Hearing impairment, Sensorineural hearing impairment, Radioulnar synostosis, I... |
ORPHA:2712 |
| Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Cataract, Abnormality of retinal pigmentation, Retinal detachment, Lens subluxation, Microphakia |
ORPHA:171844 |
| Flynn-Aird Syndrome |
|
Cataract, Carious teeth, Progressive sensorineural hearing impairment, Joint stiffness, Bone cyst... |
ORPHA:2047 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Lentiglobus, Carious teeth, Periodontitis, Osteomalacia, Open bite, Micrognathia, Open mouth, Hyp... |
ORPHA:534 |
| Cataract 17, Multiple Types |
|
Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract |
OMIM:611544 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Cataract, Retinal dystrophy |
OMIM:610156 |
| Wagr Syndrome |
|
Cataract, Micrognathia, Aplasia/Hypoplasia of the iris, Ptosis, Everted lower lip vermilion, Scol... |
ORPHA:893 |
| Amelogenesis Imperfecta, Type Iiic |
|
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... |
OMIM:618386 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth... |
OMIM:612529 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Mandibular prognathia, Thick eyebrow, Wide mouth, Thin upper lip vermilion, Everted lower lip ver... |
ORPHA:2429 |
| Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:618913 |
| Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Cataract, Retinopathy |
OMIM:183800 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Eversion of lateral third of lower eyelids, Macrodontia of permanent maxillary central incisor, N... |
ORPHA:364028 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Downslanted palpebral fissures, Anodontia, Oligodontia, Everted lower lip vermilion, Scoliosis, K... |
ORPHA:276630 |
| Basal Ganglia Calcification, Idiopathic, 5 |
|
Thalamic calcification |
OMIM:615483 |
| Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Cataract, Macular degeneration, Tortuosity of conjunctival vessels, Limb ataxia, Dysmetria, Progr... |
ORPHA:284289 |
| Achondrogenesis Type 2 |
|
Cataract, Unossified sacrum, Hearing impairment, Absent vertebral body mineralization, Delayed pu... |
ORPHA:93296 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
| Nance-Horan Syndrome |
|
Posterior Y-sutural cataract, Microcornea, Diastema, Supernumerary maxillary incisor, Development... |
OMIM:302350 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Cervical spinal canal stenosis, Scheuermann-like vertebral changes, Ptosis, Blepharophimosis, Nar... |
OMIM:301900 |
| Amelogenesis Imperfecta, Type Iv |
|
Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia |
OMIM:104510 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... |
OMIM:269400 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth |
OMIM:615887 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Iris coloboma, Chorioretinal coloboma |
OMIM:120433 |
| Alagille Syndrome |
|
Keratoconus, Abnormal form of the vertebral bodies, Downslanted palpebral fissures, Abnormal pupi... |
ORPHA:52 |
| Retinitis Pigmentosa 77 |
|
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Cystoid macular edema, Reti... |
OMIM:617304 |
| Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:616270 |
| Rhizomelic Chondrodysplasia Punctata |
|
Cataract, Abnormality of the dentition, Limitation of joint mobility, Epiphyseal stippling, Epica... |
ORPHA:177 |
| Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Decreased thalamic volume |
OMIM:619072 |
| Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypermagnesemia, Osteomalacia, Hypocalcemic seizures, Hypercalcemia |
ORPHA:405 |
| Cockayne Syndrome Type 1 |
|
Cataract, Abnormality of the dentition, Mandibular prognathia, Optic atrophy, Hearing impairment,... |
ORPHA:90321 |
| Cdkl5-Deficiency Disorder |
|
Deep philtrum, Everted lower lip vermilion, Thick vermilion border, Multifocal epileptiform disch... |
ORPHA:505652 |
| Orthostatic Hypotension 1 |
|
Hypomagnesemia, Joint hypermobility, Ptosis, Orthostatic hypotension, Increased blood urea nitrog... |
OMIM:223360 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Low-set ears, Highly arched eyebrow, Short palpebral fissure, Joint contracture of the hand, Cong... |
ORPHA:352490 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Focal T2 hyperintense thalamic lesion, Splenomegaly, Macrocytic anemia, Hyperprolinemia, Hyperala... |
OMIM:619046 |
| Leber Congenital Amaurosis |
|
Abnormal optic disc morphology, Keratoconus, Abnormality of retinal pigmentation, Cataract |
ORPHA:65 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Focal T2 hyperintense thalamic lesion |
OMIM:619057 |
| Frank-Ter Haar Syndrome |
|
Delayed eruption of teeth, Downslanted palpebral fissures, Osteolysis, Camptodactyly of finger, J... |
ORPHA:137834 |
| Jalili Syndrome |
|
Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta, Optic at... |
ORPHA:1873 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Thalamic calcification |
OMIM:618317 |
| Pseudohypoparathyroidism Type 1B |
|
Cataract, Hyperphosphatemia, Delayed eruption of teeth, Laryngeal dystonia, Hypocalcemic tetany, ... |
ORPHA:94089 |
| Lateral Meningocele Syndrome |
|
Low-set ears, Craniofacial hyperostosis, Atresia of the external auditory canal, Micrognathia, Se... |
ORPHA:2789 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:2239 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Platyspondyly, Cataract, Anisospondyly, Downturned corners of mouth, Long philtrum, Micrognathia,... |
ORPHA:163649 |
| Arthrogryposis, Distal, Type 5 |
|
Keratoconus, Astigmatism, Protruding ear, Epicanthus, Limited wrist extension, Ptosis, Distal art... |
OMIM:108145 |
| Marshall Syndrome |
|
Platyspondyly, Cataract, Bifid uvula, Macrodontia of permanent maxillary central incisor, Low-set... |
OMIM:154780 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Abnormal nerve conduction velocity, Hearing impairment, Tremor, Scoliosis, Kyphosis |
ORPHA:101075 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Cataract, Sparse lateral eyebrow, Widely spaced teeth, Micrognathia, Upslanted palpebral fissure,... |
OMIM:619694 |
| Zimmermann-Laband Syndrome 3 |
|
Bifid uvula, Thick lower lip vermilion, Long eyelashes, Thick eyebrow, Gingival overgrowth, High ... |
OMIM:618658 |
| Peters Anomaly |
|
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... |
ORPHA:708 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
| Ullrich Congenital Muscular Dystrophy |
|
Elbow flexion contracture, Wrist hypermobility, Micrognathia, Increased laxity of fingers, Abnorm... |
ORPHA:75840 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Fusion of the left and right thalami, Agenesis of corpus callosum |
OMIM:617542 |
| Leber Congenital Amaurosis 16 |
|
Optic disc pallor, Cataract |
OMIM:614186 |
| Retinitis Pigmentosa 10 |
|
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Bull's eye maculopathy, Bon... |
OMIM:180105 |
| Aniridia 1 |
|
Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupilla... |
OMIM:106210 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Low-set ears, Joint contracture of the hand, Retrognathia, Hyperplasia of the maxilla, Downslante... |
OMIM:300280 |
| Acute Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia, Abnormal thalamic ... |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia, Abnormal thalamic ... |
ORPHA:529808 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Retinal nonattachment, Microcornea, Posterior synechiae of the anterior chamber, Persis... |
OMIM:221900 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic atrophy, Hearing impairment, Optic disc pallor, Scoliosis, Kyphosis |
OMIM:617087 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Cataract, Pigmentary retinopathy, Rod-cone dystrophy, Ataxia |
OMIM:614307 |
| Norrie Disease |
|
Optic atrophy, Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Buphthalmos... |
OMIM:310600 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
T2 hypointense thalamus |
OMIM:618193 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level |
OMIM:601198 |
| Cataract 5, Multiple Types |
|
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cataract, Macroglossia, Peters anomaly, Congenital contracture, Cleft upper lip, Elevated circula... |
OMIM:613150 |
| Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome |
|
Cataract, Rod-cone dystrophy, Retinal coloboma |
OMIM:601794 |
| Absence Deformity Of Leg-Cataract Syndrome |
|
Cataract, Scoliosis, Hyperlordosis |
ORPHA:2310 |
| Spinocerebellar Ataxia With Epilepsy |
|
Focal T2 hyperintense thalamic lesion, Hyperalaninemia |
ORPHA:254881 |
| Cataract 2, Multiple Types |
|
Microcornea, Nuclear cataract, Nuclear pulverulent cataract, Developmental cataract, Aculeiform c... |
OMIM:604307 |
| Retinitis Pigmentosa 46 |
|
Pigmentary retinopathy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Rod... |
OMIM:612572 |
| Sialidosis Type 2 |
|
Hearing impairment, Tremor, Corneal opacity, Osteoporosis, Flexion contracture, Kyphosis |
ORPHA:87876 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Highly arched eyebrow, Optic atrophy, Diastema, Carpal synostosis, Microdontia, Radioulnar synost... |
OMIM:605282 |
| Autosomal Recessive Stickler Syndrome |
|
Platyspondyly, Cataract, Micrognathia, Astigmatism, Malar flattening, Sensorineural hearing impai... |
ORPHA:250984 |
| Retinitis Pigmentosa 83 |
|
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Asteroid hyalosis, Vitreous... |
OMIM:618173 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... |
OMIM:125250 |
| Alexander Disease Type I |
|
Abnormal thalamic MRI signal intensity |
ORPHA:363717 |
| Bardet-Biedl Syndrome 9 |
|
Cataract, Hyperglycemia, Attenuation of retinal blood vessels, Astigmatism, Retinal degeneration,... |
OMIM:615986 |
| Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:99879 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Retinal dysplasia, Ocular anterior segment dysgenesis, Developmental cataract |
ORPHA:324416 |
| Osteogenesis Imperfecta |
|
Carious teeth, Hearing impairment, Enlarged vertebral pedicles, Micrognathia, Decreased skull oss... |
ORPHA:666 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract, Rod-cone dystrophy, Retinal coloboma |
ORPHA:363741 |
| Codas Syndrome |
|
Cataract, Crumpled ear, Abnormal form of the vertebral bodies, Delayed eruption of teeth, Abnorma... |
ORPHA:1458 |
| Hip Dysplasia, Beukes Type |
|
Kyphosis, Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormal bon... |
ORPHA:2114 |
| Microphthalmia/Coloboma 12 |
|
Peters anomaly, Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of the... |
OMIM:120200 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia |
OMIM:308990 |
| Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
| Helix Syndrome |
|
Hypokalemia, Hypermagnesemia |
OMIM:617671 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse eyebrow, Curly eyelashes, Sparse eyelashes, Conical primary incisor, Corneal opacity, Blep... |
OMIM:602400 |
| Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Cataract |
ORPHA:2278 |
| Tubulinopathy-Associated Dysgyria |
|
Abnormal thalamus morphology |
ORPHA:467166 |
| Autosomal Dominant Keratitis |
|
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... |
ORPHA:2334 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
| Isolated Aniridia |
|
Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula |
ORPHA:250923 |
| Fetal Akinesia Deformation Sequence 4 |
|
Low-set ears, Arthrogryposis multiplex congenita, Retrognathia, Micrognathia, Short neck, Camptod... |
OMIM:618393 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Hearing impairment, Decreased nerve conduction velocity, Tremor, Scoliosis, Kyphosis |
ORPHA:101078 |
| Retinitis Pigmentosa 56 |
|
Pigmentary retinopathy, Posterior subcapsular cataract, Nuclear cataract, Attenuation of retinal ... |
OMIM:613581 |
| Aceruloplasminemia |
|
Decreased circulating iron concentration, Increased circulating ferritin concentration, Acerulopl... |
ORPHA:48818 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Epicanthus, Scoliosis, Kyphosis |
OMIM:300434 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Cataract, Joint contracture of the hand, Carious teeth, Delayed eruption of teeth, Long philtrum,... |
OMIM:214150 |
| Cleft Lip/Palate |
|
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Con... |
ORPHA:199306 |
| Gitelman Syndrome |
|
Hypermagnesemia, Hypomagnesemia, Gout, Hypocalcemia, Tinnitus, Hypokalemia |
ORPHA:358 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Telecanthus, Abnormality of primary teeth, Tented upper lip vermilion, Upslanted palpebral fissur... |
ORPHA:438216 |
| East Syndrome |
|
Hypomagnesemia, Action tremor, Sensorineural hearing impairment, Hypokalemia, Increased circulati... |
ORPHA:199343 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
| Spastic Paraplegia 5A, Autosomal Recessive |
|
Optic atrophy, Cataract, Impaired vibration sensation in the lower limbs, Limb dysmetria, Impaire... |
OMIM:270800 |
