| 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 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Cataract, Short palpebral fissure, Highly arched eyebrow, Hypoplasia of the maxilla, Retrognathia... |
OMIM:620157 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
High, narrow palate, Cataract, Bifid uvula, Low-set ears, Conductive hearing impairment, Delayed ... |
ORPHA:2780 |
| Renpenning Syndrome |
|
High, narrow palate, Cataract, Mandibular prognathia, Macrotia, Thin eyebrow, Macrodontia, Joint ... |
ORPHA:3242 |
| Hepatoerythropoietic Porphyria |
|
Seborrhoeic blepharitis, Osteopenia, Erythrodontia, Abnormal circulating porphyrin concentration,... |
ORPHA:95159 |
| Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Abnormality of dental color, Limb joint contracture, Enamel hypoplasia |
ORPHA:251393 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Cataract, Tooth malposition, Low-set, posteriorly rotated ears, Furrowed tongue, Micrognathia, Ma... |
ORPHA:1387 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Hypophosphatem... |
ORPHA:157215 |
| Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
| Axenfeld-Rieger Syndrome, Type 3 |
|
Posterior synechiae of the anterior chamber, Ectopia pupillae, Hypoplasia of the iris, Malar flat... |
OMIM:602482 |
| Microphthalmia, Lenz Type |
|
Cataract, Microcornea, Ankyloblepharon, Abnormality of the dentition, Delayed eruption of teeth, ... |
ORPHA:568 |
| Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Platyspondyly, Cataract, Hypoplasia of the odontoid process, Malar flattening, Irregularity of ve... |
ORPHA:85172 |
| Aniridia-Absent Patella Syndrome |
|
Cataract, Aniridia, Ptosis |
ORPHA:1069 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:146200 |
| Colchicine Poisoning |
|
Hypomagnesemia, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal... |
ORPHA:31824 |
| Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
| Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Hearing impairment, Widely spaced primary teeth, Hypoplasia of the primary... |
ORPHA:90322 |
| Uveal Melanoma |
|
Inferior lens subluxation, Mydriasis, Iris melanoma, Abnormal fundus morphology, Ciliary body mel... |
ORPHA:39044 |
| Bruck Syndrome |
|
Platyspondyly, Pterygium, Joint stiffness, Recurrent fractures, Osteoporosis, Scoliosis, Arthrogr... |
ORPHA:2771 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Mandibular prognathia, Protruding ear, Short philtrum, Scoliosis, Kyphosis, Cleft palate, Synophrys |
ORPHA:85317 |
| Familial Acute Necrotizing Encephalopathy |
|
Abnormal thalamus morphology, Gliosis |
ORPHA:88619 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Long philtrum, Micrognathia, Distichiasis, High palate, Scoliosis, Kyphosis |
ORPHA:2598 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Low-set ears, Arthrogryposis multiplex congenita, Abnormality of the palpebral fissures, Short ne... |
ORPHA:178148 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Cataract, Pigmentary retinopathy, Impaired vibration sensation in the lower limbs, Positive Rombe... |
ORPHA:88628 |
| Cach Syndrome |
|
T2 hypointense thalamus, Lateral ventricle dilatation, Hepatosplenomegaly, Nonketotic hyperglycin... |
ORPHA:135 |
| Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Cataract, Corneal dystrophy |
ORPHA:1369 |
| Zimmermann-Laband Syndrome 2 |
|
Long eyelashes, Thick eyebrow, Gingival overgrowth, Sensorineural hearing impairment, Short neck,... |
OMIM:616455 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Jalili Syndrome |
|
Optic disc pallor, Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis |
OMIM:217080 |
| Intermediate Uveitis |
|
Cataract, Macular edema, Band keratopathy, Posterior synechiae of the anterior chamber, Epiretina... |
ORPHA:279914 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia |
OMIM:612089 |
| Cerebellofaciodental Syndrome |
|
Low-set ears, Cataract, Sparse eyebrow, Macrodontia of permanent maxillary central incisor, Denta... |
OMIM:616202 |
| Stickler Syndrome Type 1 |
|
Platyspondyly, Cataract, Hypoplasia of the maxilla, Long philtrum, Abnormal vertebral epiphysis m... |
ORPHA:90653 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Cataract, Hearing impairment, Hand tremor, Head tremor, Scoliosis, Kyphosis |
OMIM:614409 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Cataract, Microcornea, Mandibular prognathia, Optic atrophy, Myopic astigmatism, Downslanted palp... |
OMIM:152950 |
| Fuchs Heterochromic Iridocyclitis |
|
Chorioretinal scar, Cataract, Corneal keratic precipitates, Anterior chamber inflammatory cells, ... |
ORPHA:263479 |
| Prune1-Related Neurological Syndrome |
|
Low-set ears, Cataract, Optic atrophy, Micrognathia, Elevated circulating creatine kinase concent... |
ORPHA:544469 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Platyspondyly, Cataract, Low-set ears, Long philtrum, Sensorineural hearing impairment, Short nec... |
OMIM:618958 |
| Aniridia And Absent Patella |
|
Cataract, Aniridia |
OMIM:106220 |
| Stickler Syndrome, Type Iv |
|
Platyspondyly, Cataract, Astigmatism, Intervertebral space narrowing, Sensorineural hearing impai... |
OMIM:614134 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... |
OMIM:122000 |
| Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... |
ORPHA:98973 |
| Aniridia 3 |
|
Cataract, Aniridia |
OMIM:617142 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cataract, Keloids, Hyperinsulinemia, Type II diabetes mellitus, Abnormality of retinal pigmentation |
ORPHA:3085 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:241530 |
| Gyrate Atrophy Of Choroid And Retina |
|
Cataract, Abnormal macular morphology, Chorioretinal atrophy, Subcapsular cataract, Chorioretinal... |
ORPHA:414 |
| Sjƶgren-Larsson Syndrome |
|
Abnormal dental enamel morphology, Joint stiffness, Scoliosis, Kyphosis, Corneal erosion |
ORPHA:816 |
| Zimmermann-Laband Syndrome |
|
Cataract, Bifid uvula, Downslanted palpebral fissures, Large fleshy ears, Long eyelashes, Telecan... |
ORPHA:3473 |
| Iridocorneal Endothelial Syndrome |
|
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... |
ORPHA:64734 |
| Enhanced S-Cone Syndrome |
|
Cataract, Pigmentary retinopathy, Macular edema, Vitreoretinopathy, Retinoschisis |
OMIM:268100 |
| Orofacial Cleft 15 |
|
Low-set ears, Sparse eyebrow, Palate fistula, Upslanted palpebral fissure, Sparse eyelashes, Bila... |
OMIM:616788 |
| Cerebellar-Facial-Dental Syndrome |
|
Low-set ears, Cataract, Sparse eyebrow, Macrodontia of permanent maxillary central incisor, Denta... |
ORPHA:444072 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypophosphatemia, Hypocalcemia |
OMIM:600081 |
| Stickler Syndrome, Type I |
|
Platyspondyly, Cataract, Bifid uvula, Conductive hearing impairment, Joint stiffness, Micrognathi... |
OMIM:108300 |
| Wieacker-Wolff Syndrome |
|
Low-set ears, Broad alveolar ridges, Arthrogryposis multiplex congenita, Retrognathia, Long philt... |
OMIM:314580 |
| Alg2-Cdg |
|
Cataract, Downslanted palpebral fissures, Epicanthus, Hypsarrhythmia, Iris coloboma |
ORPHA:79326 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Low-set ears, Coronal craniosynostosis, Joint contracture of the hand, Hypoalbuminemia, Conductiv... |
OMIM:235510 |
| Infantile Spasms-Broad Thumbs Syndrome |
|
Cataract, Downslanted palpebral fissures, Micrognathia, EEG abnormality, Optic disc pallor |
ORPHA:3173 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Low-set ears, Cleft lip, Cupped ear, Ectopia pupillae, Contracture of the proximal interphalangea... |
OMIM:618223 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Knee flexion contracture, Elevated circulating creatine kinase concentration, Hy... |
OMIM:615290 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Lumbar hyperlordosis, Sensorineural hearing impairment, Dystonia, Scoliosis, Kyphosis |
OMIM:616756 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Abnormality of the dentition, Carious teeth, Yellow-brown discoloration of the teeth, Interphalan... |
ORPHA:69087 |
| Myopathic Ehlers-Danlos Syndrome |
|
High, narrow palate, Ankle flexion contracture, Joint contracture of the hand, Congenital contrac... |
ORPHA:536516 |
| Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
| Amoebic Keratitis |
|
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... |
ORPHA:67043 |
| Alexander Disease |
|
Microcoria |
OMIM:203450 |
| Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Posterior subcapsular cataract, Macular degeneration, Attenuation of retinal blood vessels, Perip... |
OMIM:618195 |
| 4Q21 Microdeletion Syndrome |
|
Low-set ears, Abnormality of the dentition, Downturned corners of mouth, Hearing impairment, Long... |
ORPHA:238750 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... |
OMIM:610256 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Premature osteoa... |
OMIM:130060 |
| Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Hypophosphatemia |
OMIM:134600 |
| Cataract 48 |
|
Cataract |
OMIM:618415 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Cataract, Osteopenia, Optic nerve hypoplasia, Flexion contracture, Micrognathia, Epiphyseal stipp... |
OMIM:222765 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Abnormality of the dentition, Dental malocclusion, EEG abnormality, Scoliosis, Mandibular prognat... |
ORPHA:1858 |
| Congenital Syphilis |
|
Cataract, Optic atrophy, Periostitis, Keratitis, Hearing impairment, Hyperplasia of the maxilla, ... |
ORPHA:499009 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Cla... |
OMIM:601455 |
| Cystinosis |
|
Hypokalemia, Hypophosphatemia |
ORPHA:213 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Abnormal circulating calcium concentration, Hepatosplenomegaly, Hypophosphatemia, Hypophosphatemi... |
OMIM:307800 |
| Urban-Rogers-Meyer Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Camptodactyly of finger, Micrognathia, Recurrent fractures, U... |
ORPHA:3409 |
| Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Amelogenesis imperfecta, Abnormal circulating calcium concentration, Astigmatism, Hypomagnesemia |
OMIM:248190 |
| Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... |
OMIM:107250 |
| Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Cataract, Asteroid hyalosis, Retinal thinning |
OMIM:132450 |
| Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
| Congenital Erythropoietic Porphyria |
|
Seborrhoeic blepharitis, Osteopenia, Unconjugated hyperbilirubinemia, Erythrodontia, Abnormal cir... |
ORPHA:79277 |
| Cataract 39, Multiple Types |
|
Lamellar cataract, Developmental cataract, Anterior polar cataract |
OMIM:615188 |
| Neuhauser Syndrome |
|
Bifid uvula, Osteopenia, Cupped ear, Long philtrum, Hypoplasia of the iris, Megalocornea, Downsla... |
OMIM:249310 |
| Hypogonadism-Cataract Syndrome |
|
Cataract |
OMIM:240950 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Cataract, Microcornea, Congenital sensorineural hearing impairment, Micrognathia, Shallow orbits,... |
OMIM:617306 |
| Ophthalmoplegia, Familial Static |
|
Ptosis, Anisocoria |
OMIM:165000 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Microcornea, Long philtrum, Ectopia pupillae, Cryptophthalmos, Long eyelashes, Epicanth... |
OMIM:615877 |
| Fountain Syndrome |
|
Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Abnormal form of the vertebral b... |
ORPHA:3219 |
| Mend Syndrome |
|
Asymmetry of the mouth, Cataract, Low-set ears, Abnormal auditory evoked potentials, Telecanthus,... |
ORPHA:401973 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia |
OMIM:264700 |
| Hypomagnesemia 4, Renal |
|
Hypomagnesemia |
OMIM:611718 |
| Gm1-Gangliosidosis, Type Iii |
|
Platyspondyly, Anterior beaking of lumbar vertebrae, Dystonia, Opacification of the corneal strom... |
OMIM:230650 |
| Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Iris coloboma, Retinal atrophy, Posterior synechiae of the anterior chamber, Developmental cataract |
OMIM:616722 |
| Congenital Varicella Syndrome |
|
Cataract |
ORPHA:291 |
| Jaberi-Elahi Syndrome |
|
Low-set ears, Cataract, Sparse eyebrow, Optic atrophy, Joint stiffness, Tremor, Sparse eyelashes,... |
OMIM:617988 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
| Sialidosis Type 1 |
|
Cataract, Abnormal form of the vertebral bodies, Thick lower lip vermilion, Decreased nerve condu... |
ORPHA:812 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Low-set ears, Cataract, Microcornea, Sparse eyebrow, Hypoplastic cervical vertebrae, Downslanted ... |
ORPHA:35173 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:618618 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Hypomagnesemia |
OMIM:616418 |
| Kleefstra Syndrome 2 |
|
Bifid uvula, Thick eyebrow, Everted lower lip vermilion, Scoliosis, Kyphosis |
OMIM:617768 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Platyspondyly, Cataract, Low-set ears, Downturned corners of mouth, Micrognathia, Decreased skull... |
ORPHA:93267 |
| Frontofacionasal Dysplasia |
|
Cataract, Microcornea, Telecanthus, Limbal dermoid, Absent inner eyelashes, Upper eyelid coloboma... |
ORPHA:1791 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Camptodactyly, Kyphosis |
OMIM:618453 |
| Monilethrix |
|
Cataract, Abnormal eyebrow morphology, Abnormal eyelash morphology |
ORPHA:573 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Limitation of joint mobility, Kyphosis, Ptosis, Scoliosis, Congenital foot contractures |
ORPHA:3454 |
| Phacoanaphylactic Uveitis |
|
Posterior uveitis, Anterior chamber flare grade 1+, Panuveitis, Hypopyon, Posterior synechiae of ... |
ORPHA:209959 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Cataract, Generalized dystonia, Sensorineural hearing impairment, Orofacial cleft, Macroglossia, ... |
ORPHA:79107 |
| Hyperparathyroidism, Neonatal Severe |
|
Splenomegaly, Hypophosphatemia, Calcinosis, Anemia, Hypercalcemia |
OMIM:239200 |
| Congenital Fibrosis Of Extraocular Muscles |
|
Cataract, Congenital fibrosis of extraocular muscles, Congenital sensorineural hearing impairment... |
ORPHA:45358 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Platyspondyly, Dental malocclusion, Optic disc coloboma, Ectopia pupillae, Recurrent otitis media... |
OMIM:608940 |
| Oculodentodigital Dysplasia |
|
Carious teeth, Hearing impairment, Micrognathia, Epicanthus, Abnormal pinna morphology, Non-midli... |
ORPHA:2710 |
| X-Linked Recessive Ocular Albinism |
|
Iris hypopigmentation, Abnormal pupil morphology, Astigmatism, Ocular albinism |
ORPHA:54 |
| Osteogenesis Imperfecta, Type Ix |
|
Platyspondyly, Dentinogenesis imperfecta, Recurrent fractures, Bowing of limbs due to multiple fr... |
OMIM:259440 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Platyspondyly, Sclerosis of skull base, Hip contracture, Knee flexion contracture, Thoracolumbar ... |
OMIM:313420 |
| Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Hypomagnesemia |
ORPHA:564178 |
| Trisomy 13 |
|
High, narrow palate, Cataract, Iris coloboma, Abnormality of the dentition, Low-set ears, Abnorma... |
ORPHA:3378 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... |
OMIM:601596 |
| Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Cataract, Macular degeneration, Dysmetria |
OMIM:619780 |
| Congenital Disorder Of Glycosylation, Type Ii |
|
Low-set ears, Cataract, Upslanted palpebral fissure, Sensorineural hearing impairment, Joint hype... |
OMIM:607906 |
| Cataract 23, Multiple Types |
|
Lamellar cataract, Microcornea, Nuclear cataract |
OMIM:610425 |
| Usher Syndrome Type 1 |
|
Iris hypopigmentation, Cataract, Abnormal dental enamel morphology, Sensorineural hearing impairm... |
ORPHA:231169 |
| Autosomal Recessive Spastic Paraplegia Type 77 |
|
Macrodontia of permanent maxillary central incisor, Retrognathia, Paroxysmal dystonia, Kyphoscoli... |
ORPHA:466722 |
| Congenital Primary Aphakia |
|
Corneal perforation, Optic disc coloboma, Aniridia, Aplasia/Hypoplasia affecting the anterior seg... |
ORPHA:83461 |
| Frontonasal Dysplasia 1 |
|
Low-set ears, Cataract, Hypoplasia of the maxilla, Joint contracture of the hand, Conductive hear... |
OMIM:136760 |
| Dermatitis, Atopic |
|
Conjunctivitis, Keratoconus, Cataract |
OMIM:603165 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Downturned corners of mouth, Low-set, posteriorly rotated ears, Reduced bone mineral density, Sho... |
ORPHA:2983 |
| 8Q21.11 Microdeletion Syndrome |
|
Iris hypopigmentation, Cataract, Abnormality of the dentition, Low-set ears, Downturned corners o... |
ORPHA:284160 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Platyspondyly, Cataract, Hearing impairment, Delayed pubic bone ossification, Limited elbow exten... |
ORPHA:1856 |
| Retinitis Pigmentosa 43 |
|
Pigmentary retinopathy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Bon... |
OMIM:613810 |
| Cohen Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Micrognathia, Open mouth, Sensorineural hearing impairment, I... |
ORPHA:193 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Optic atrophy, Hearing impairment, Dystonia, Flexion contracture, Kyphosis |
OMIM:618237 |
| Pseudopseudohypoparathyroidism |
|
Cataract, Delayed eruption of teeth, Short neck, Enamel hypoplasia, Osteoporosis |
OMIM:612463 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Optic atrophy, Hearing impairment, Ptosis, Abnormal autonomic nervous system physiology, Scoliosi... |
OMIM:610743 |
| Dystonia-Deafness Syndrome 1 |
|
Cataract, Oculogyric crisis, Cleft upper lip, Generalized dystonia, Leg dystonia, Sensorineural h... |
OMIM:607371 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Optic atrophy, Cataract, Camptodactyly of finger, Retinal dysplasia, Flexion contracture |
ORPHA:272 |
| Oculoauricular Syndrome |
|
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin... |
OMIM:612109 |
| Cataract 41 |
|
Nuclear cataract |
OMIM:116400 |
| Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
| Cataract 18 |
|
Nuclear cataract |
OMIM:610019 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Abnormal thalamus morphology |
ORPHA:404440 |
| Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Widely spaced teeth, Periapical tooth abscess, Enamel hypomineralization, Mic... |
ORPHA:3352 |
| Cockayne Syndrome B |
|
Optic atrophy, Microcornea, Carious teeth, Dental malocclusion, Abnormal auditory evoked potentia... |
OMIM:133540 |
| Hypomagnesemia 6, Renal |
|
Hypomagnesemia |
OMIM:613882 |
| Koolen-De Vries Syndrome |
|
High, narrow palate, Cataract, Abnormality of the dentition, Abnormal dental enamel morphology, O... |
ORPHA:96169 |
| Even-Plus Syndrome |
|
Cataract, Highly arched eyebrow, Hypodontia, Short neck, Vertebral clefting, High palate, Coronal... |
OMIM:616854 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Increased circulating free fatty acid level, Hypophosphatemia |
OMIM:605911 |
| Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Elevated circulat... |
OMIM:619040 |
| Kniest Dysplasia |
|
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Hearing impairment, Short ne... |
ORPHA:485 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Synostosis of carpal bones, Abnormal circulating lipid concentration, Low-set, posteriorly rotate... |
ORPHA:3191 |
| Corneal Dystrophy, Posterior Amorphous |
|
Iris coloboma, Corneal dystrophy, Ectopia pupillae |
OMIM:612868 |
| Autosomal Dominant Hypocalcemia |
|
Optic atrophy, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Writer's cramp, Reduced bone mine... |
ORPHA:428 |
| Autosomal Recessive Spastic Paraplegia Type 53 |
|
Limb dystonia, Kyphosis, Hearing impairment, Joint hypermobility |
ORPHA:319199 |
| Arthrogryposis, Distal, Type 12 |
|
Spinal rigidity, Low-set ears, Ankle flexion contracture, Dental crowding, Knee flexion contractu... |
OMIM:620545 |
| 3Q29 Microduplication Syndrome |
|
Low-set ears, Cataract, Abnormality of the dentition, Hearing impairment, Downslanted palpebral f... |
ORPHA:251038 |
| Cerebrotendinous Xanthomatosis |
|
Optic atrophy, Osteopenia, Abnormal auditory evoked potentials, Abnormal motor evoked potentials,... |
ORPHA:909 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Low-set ears, Myopic astigmatism, Long philtrum, Macrodontia, Thick eyebrow, Micrognathia, Upslan... |
OMIM:618443 |
| Coffin-Lowry Syndrome |
|
Craniofacial hyperostosis, Open mouth, Sensorineural hearing impairment, Epicanthus, Everted lowe... |
ORPHA:192 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Abnormal nerve conduction velocity, Optic atrophy, Hearing impairment, Tremor, Scoliosis, Kyphosis |
ORPHA:99014 |
| Distal Duplication 6P |
|
Low-set ears, Cataract, Aplasia/Hypoplasia of the earlobes, Micrognathia, Narrow mouth, Short nec... |
ORPHA:1745 |
| Microcoria, Congenital |
|
Hypoplasia of the iris dilator muscle, Microcoria |
OMIM:156600 |
| Dentici-Novelli Neurodevelopmental Syndrome |
|
Cataract, Hearing impairment, Widely spaced teeth, Upslanted palpebral fissure, Thin upper lip ve... |
OMIM:619877 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Osteoporosis, Cataract, Reduced bone mineral density, Recurrent fractures |
ORPHA:2410 |
| Mucolipidosis Iii Gamma |
|
Increased serum beta-hexosaminidase, Joint stiffness, Claw hand deformity, Short neck, Hyperlordo... |
OMIM:252605 |
| Optic Atrophy 8 |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... |
OMIM:616648 |
| Refsum Disease, Classic |
|
Cataract, Somatic sensory dysfunction, Retinal degeneration, Rod-cone dystrophy, Ataxia |
OMIM:266500 |
| Atkin-Flaitz Syndrome |
|
Abnormality of the dentition, Everted lower lip vermilion, Thick vermilion border, Maxillary late... |
ORPHA:1193 |
| Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae |
OMIM:609141 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypochromic anemia, Leukocytosis, Hypocalcemia, Splenomegaly, Hypophosphatemia, Hypocalcemic seiz... |
ORPHA:289157 |
| Autoimmune Hypoparathyroidism |
|
Cataract, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Conjunctiviti... |
ORPHA:36913 |
| Neuroleptic Malignant Syndrome |
|
Oculogyric crisis, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circu... |
ORPHA:94093 |
| X-Linked Intellectual Disability, Najm Type |
|
Cataract, Optic atrophy, Long philtrum, Chorioretinal coloboma, Micrognathia, Sensorineural heari... |
ORPHA:163937 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Low-set ears, Arthrogryposis multiplex congenita, Recurrent otitis media, Cleft soft palate, Micr... |
OMIM:619503 |
| Chromosome 16Q12 Duplication Syndrome |
|
Cataract, Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial m... |
OMIM:619649 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Hypocalcemic seizures, Hypophosphatemia |
OMIM:277440 |
| Pontocerebellar Hypoplasia, Type 16 |
|
Low-set ears, Cataract, Optic atrophy, Ptosis, Scoliosis |
OMIM:619527 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:93160 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Cataract, Optic atrophy, Abnormality iris morphology, Megalocornea, Lumbar hyperlordosis, Elevate... |
ORPHA:370959 |
| Axenfeld-Rieger Syndrome, Type 1 |
|
Microcornea, Abnormally prominent line of Schwalbe, Hypoplasia of the maxilla, Ectopia pupillae, ... |
OMIM:180500 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Platyspondyly, Cataract, Joint stiffness, Osteoarthritis, Abnormal intervertebral disk morphology |
ORPHA:1345 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Abnormal thalamus morphology, Partial agenesis of the corpus callosum, Lateral ventricle dilatation |
ORPHA:300570 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Cataract, Sparse eyebrow, Hearing impairment, Downslanted palpebral fissures, Punctate vertebral ... |
OMIM:302960 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Cataract, Sparse eyebrow, Keratitis, Sparse eyelashes, Conjunctivitis, Blepharitis |
OMIM:612843 |
| Blue Diaper Syndrome |
|
Hypercalcemia, Hyperphosphatemia |
ORPHA:94086 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal joint of the 2nd ... |
OMIM:609813 |
| Hypomagnesemia 3, Renal |
|
Rickets, Hyperphosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Hypo... |
OMIM:248250 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Micrognathia, Narrow mouth, ... |
OMIM:616007 |
| Mohr-Tranebjaerg Syndrome |
|
Optic atrophy, Prelingual sensorineural hearing impairment, Generalized dystonia, Abnormality of ... |
ORPHA:52368 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Platyspondyly, Osteoporosis, Kyphosis |
ORPHA:2786 |
| Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia |
OMIM:613388 |
| Hec Syndrome |
|
Abnormal pupil morphology, Developmental cataract |
ORPHA:2119 |
| Trisomy 20P |
|
Micrognathia, Abnormal antihelix morphology, Epicanthus, Short neck, Blepharophimosis, Everted lo... |
ORPHA:261318 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Blepharospasm, Generalized dystonia, Multiple joint contractures, Tremor, Hyperlordosis, Torticol... |
OMIM:128100 |
| Scalp-Ear-Nipple Syndrome |
|
Low-set ears, Underdeveloped tragus, Epicanthus, Blepharophimosis, Narrow palpebral fissure, Iris... |
OMIM:181270 |
| Weismann-Netter Syndrome |
|
Horizontal sacrum, Calvarial hyperostosis, Scoliosis, Delayed eruption of permanent teeth, Kyphosis |
OMIM:112350 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Low-set ears, Abnormal dental morphology, Malar prominence, Micrognathia, Short neck, Ptosis, Hyp... |
ORPHA:2522 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Dental crowding, Retrognathia, Long philtrum, Downslanted palpebral fissures, Thick eyebrow, Micr... |
OMIM:617061 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Hypophosphatemia |
OMIM:616026 |
| Trisomy 17P |
|
Low-set ears, Cataract, Hearing impairment, Downslanted palpebral fissures, Micrognathia, Narrow ... |
ORPHA:261290 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypokalemia, Hypomagnesemia |
OMIM:618314 |
| Congenital Myopathy 22A, Classic |
|
Dental crowding, Downslanted palpebral fissures, Bilateral ptosis, Mildly elevated creatine kinas... |
OMIM:620351 |
| Japanese Encephalitis |
|
Hyponatremia, Focal T2 hyperintense thalamic lesion, Abnormal thalamus morphology, Neutrophilia |
ORPHA:79139 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Cataract, Enamel hypoplasia, Downturned corners of mouth, Downslanted palpebral fissures |
ORPHA:2643 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Protruding ear, Scoliosis, Mandibular prognathia, Kyphosis, Synophrys |
OMIM:300861 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Aganglionic megacolon, Abnormal pupil morphology |
ORPHA:2151 |
| Peroxisome Biogenesis Disorder 7A (Zellweger) |
|
Low-set ears, Cataract, Elevated circulating hexacosanoic acid concentration, Long philtrum, Epip... |
OMIM:614872 |
| Cenani-Lenz Syndrome |
|
High, narrow palate, Cataract, Synostosis of joints, Synostosis of carpal bones, Abnormal form of... |
ORPHA:3258 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Abnormality of canine, Short palpebral fissure, Microglossia, Hearing impairment, Cleft mandible,... |
ORPHA:364577 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Mandibular prognathia, Abnormal form of the vertebral bodies,... |
ORPHA:2916 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia |
OMIM:613845 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cataract, Retinal detachment, Optic nerve hypoplasia |
OMIM:615181 |
| Frontorhiny |
|
Cataract, Iris coloboma, Hypoplasia of the maxilla, Camptodactyly of finger, Low-set, posteriorly... |
ORPHA:391474 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:300554 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Cataract, Abnormality of the vertebral column, Cranial nerve compression, Pathologic fracture, In... |
ORPHA:52430 |
| Vitamin K Antagonist Embryofetopathy |
|
Cataract, Optic atrophy, Hearing impairment, Punctate vertebral calcifications, Epiphyseal stippl... |
ORPHA:1914 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Low-set ears, Intercrural pterygium, Micrognathia, Narrow mouth, Dysplastic patella, Epicanthus, ... |
OMIM:265000 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... |
ORPHA:320401 |
| Myopathy, Centronuclear, 2 |
|
Ptosis, Hyperlordosis, High palate, Facial palsy, Scoliosis, Kyphosis, Flexion contracture |
OMIM:255200 |
| Pseudohypoparathyroidism, Type Ic |
|
Cataract, Hyperphosphatemia, Delayed eruption of teeth, Hypocalcemic tetany, Hypocalcemia, Short ... |
OMIM:612462 |
| Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
| 3P25.3 Microdeletion Syndrome |
|
Abnormal thalamus morphology |
ORPHA:435638 |
| Edict Syndrome |
|
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
| Schwartz-Jampel Syndrome |
|
Pursed lips, Micrognathia, Narrow mouth, Hip contracture, Short neck, Blepharophimosis, Everted l... |
ORPHA:800 |
| Miller Fisher Syndrome |
|
Mydriasis, Ptosis, Facial palsy, EEG with generalized slow activity, Anisocoria |
ORPHA:98919 |
| Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia |
|
Low-set ears, Cataract, Highly arched eyebrow, Widely spaced teeth, Long eyelashes, Exaggerated c... |
OMIM:619286 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Low-set ears, Cataract, Cleft lip, Horizontal eyebrow, Downturned corners of mouth, Long philtrum... |
OMIM:618571 |
| Hyperferritinemia With Or Without Cataract |
|
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract |
OMIM:600886 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Microcytic anemia, T lymphocytopenia, Abnormal thalamus morphology |
ORPHA:2959 |
| Typical Nemaline Myopathy |
|
Arthrogryposis multiplex congenita, Flexion contracture, Micrognathia, Facial diplegia, Elevated ... |
ORPHA:171436 |
| Pycnodysostosis |
|
Carious teeth, Micrognathia, Mild conductive hearing impairment, Delayed eruption of primary teet... |
ORPHA:763 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Low-set ears, Cataract, Microcornea, Retrognathia, Downslanted palpebral fissures, Furrowed tongu... |
OMIM:616449 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Low-set ears, Downslanted palpebral fissures, Short philtrum, Epicanthus, Ptosis, High palate, Ky... |
OMIM:615433 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of... |
OMIM:313400 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cataract, Mandibular prognathia, Optic atrophy, Micrognathia, Upslanted palpebral fissure, Cornea... |
ORPHA:496790 |
| O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis, Downslanted palpebral fissures |
OMIM:618512 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Cataract, Ptosis, Joint contracture, Elevated circulating creatine kinase concentration |
OMIM:615351 |
| Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Abnormality of the dentition, Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buph... |
OMIM:251750 |
| Traboulsi Syndrome |
|
Cataract, Bifid uvula, Ectopia lentis, Dental malocclusion, Phakodonesis, Downslanted palpebral f... |
OMIM:601552 |
| Stiff Skin Syndrome |
|
Cataract, Elbow flexion contracture, Knee flexion contracture, Lipodystrophy, Camptodactyly |
OMIM:184900 |
| Emanuel Syndrome |
|
Broad jaw, Low-set ears, Dental crowding, Hearing impairment, Long philtrum, Macrotia, Recurrent ... |
OMIM:609029 |
| Cataract 30, Multiple Types |
|
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract |
OMIM:116300 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Spinal rigidity, Elevated circulating creatine kinase concentration, Ptosis, Facial palsy, Kyphos... |
OMIM:615084 |
| Fanconi-Bickel Syndrome |
|
Hypouricemia, Hyperbilirubinemia, Increased serum bile acid concentration, Hypokalemia, Hypophosp... |
OMIM:227810 |
| Nance-Horan Syndrome |
|
Cataract, Microcornea, Retinal detachment |
ORPHA:627 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Hypomagnesemia |
OMIM:619908 |
| Cataract 20, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Macroglossia, Mandibular prognathia, Downslanted palpebral fissures, Tented upper lip vermilion, ... |
ORPHA:261144 |
| Cockayne Syndrome A |
|
Cataract, Optic atrophy, Carious teeth, Dental malocclusion, Abnormal auditory evoked potentials,... |
OMIM:216400 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic atrophy, Cataract, Glycosuria, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... |
OMIM:268315 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
| Pearson Syndrome |
|
Cataract, Hearing impairment, Hypomagnesemia, Median cleft palate, Hypocalcemia, Hypokalemia, Cor... |
ORPHA:699 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Osteopenia, Dental malocclusion, Long philtrum, Micrognathia, Thick eyebrow, Joint hypermobility,... |
ORPHA:73223 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Cataract, Hearing impairment, Camptodactyly of finger, Micrognathia, Kyphoscoliosis, Developmenta... |
OMIM:610756 |
| Shashi-Pena Syndrome |
|
Low-set ears, Highly arched eyebrow, Cupped ear, Retrognathia, Long eyelashes, Cervical C2/C3 ver... |
OMIM:617190 |
| Weill-Marchesani Syndrome 2 |
|
Tooth malposition, High palate, Lens luxation, Cataract, Hypoplasia of the maxilla, Iridodonesis,... |
OMIM:608328 |
| Hajdu-Cheney Syndrome |
|
Low-set ears, Micrognathia, Narrow mouth, Absent frontal sinuses, Epicanthus, Short neck, High pa... |
OMIM:102500 |
| Oncogenic Osteomalacia |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:352540 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Arthrogryposis multiplex congenita, Abnormal circulating creatine kinase concentration, Kyphoscol... |
OMIM:618484 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypophosphatemia, Hypercalcemia |
OMIM:156400 |
| Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
| Cataract 43 |
|
Posterior subcapsular cataract |
OMIM:616279 |
| Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Conical tooth, Microtia, first degree, Widely spaced teeth, Peg-shaped maxillary lateral incisors... |
OMIM:610706 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hypomagnesemia, Sensorineural hearing impairment, Hypokalemia, Intention tremor, Increased circul... |
OMIM:612780 |
| Chromosome Xp11.3 Deletion Syndrome |
|
Optic atrophy, Pigmentary retinopathy, Cataract, Posterior subcapsular cataract, Attenuation of r... |
OMIM:300578 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Hypoplastic cervical vertebrae, Stippling of the epiphyses of the distal phalanges of the hand, C... |
ORPHA:79345 |
| Severe Early-Childhood-Onset Retinal Dystrophy |
|
Posterior subcapsular cataract, Posterior synechiae of the anterior chamber, Retinal pigment epit... |
ORPHA:364055 |
| Congenital Rubella Syndrome |
|
Cataract, Type I diabetes mellitus, Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmen... |
ORPHA:290 |
| Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Epicanthus, Microcoria, Hypoplasia of the nasal bone, Short dent... |
ORPHA:93357 |
| Diastrophic Dysplasia |
|
Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Hearing impairment, Campto... |
ORPHA:628 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Platyspondyly, Hypotriglyceridemia, Ectopia pupillae, Corneal opacity, Lens subluxation, Scoliosi... |
ORPHA:85167 |
| New-Onset Refractory Status Epilepticus |
|
Abnormal thalamic MRI signal intensity |
ORPHA:363558 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Focal T2 hyperintense thalamic lesion |
ORPHA:79264 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Platyspondyly, Optic atrophy, Craniofacial osteosclerosis, Increased sk... |
OMIM:618476 |
| Primary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia |
ORPHA:90362 |
| Knobloch Syndrome 1 |
|
Band keratopathy, Horizontal eyebrow, Telecanthus, Peripapillary atrophy, Chorioretinal atrophy, ... |
OMIM:267750 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Optic atrophy, Scoliosis, Facial paralysis, Decreased motor nerve conduction velocity, Head tremo... |
ORPHA:99949 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Cataract, Decreased motor nerve conduction velocity, Foot osteomyelitis, Hand tremor, Osteomyelit... |
OMIM:162400 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Cataract, Tongue atrophy, Optic atrophy, Tremor, Kyphoscoliosis, Sensorineural hearing impairment... |
ORPHA:99956 |
| Hajdu-Cheney Syndrome |
|
Low-set ears, Periodontitis, Hearing impairment, Open bite, Micrognathia, Narrow mouth, Decreased... |
ORPHA:955 |
| Pseudohypoparathyroidism, Type Ia |
|
Cataract, Hyperphosphatemia, Delayed eruption of teeth, Hypocalcemic tetany, Short neck, Enamel h... |
OMIM:103580 |
| Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
T2 hypointense thalamus |
ORPHA:1947 |
| Charcot-Marie-Tooth Disease Type 1E |
|
Joint contracture of the hand, Decreased nerve conduction velocity, Abnormal pupil morphology, Se... |
ORPHA:90658 |
| Branchio-Oculo-Facial Syndrome |
|
Cataract, Microcornea, Upper lip pit, Conductive hearing impairment, Tooth agenesis, Low-set, pos... |
ORPHA:1297 |
| Wolf-Hirschhorn Syndrome |
|
Ectopia pupillae, Micrognathia, Sensorineural hearing impairment, Epicanthus, Radioulnar synostos... |
OMIM:194190 |
| Harrod Syndrome |
|
Cataract, Dental malocclusion, Narrow mouth, Joint hypermobility, Protruding ear, High palate, Sc... |
ORPHA:2115 |
| Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Abnormality of the dentition, Joint stiffness, Scoliosis, Kyphosis |
ORPHA:1548 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Low-set ears, Hypoalbuminemia, Hypomagnesemia, Micrognathia, Hypocalcemia, Hyponatremia, Hypertri... |
OMIM:618183 |
| Bcard Syndrome |
|
Platyspondyly, Cataract, Abnormality of the dentition, Low-set ears, Osteopenia, Downturned corne... |
OMIM:612394 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Macroglossia, Elbow contracture, Elevated circulating creatine kinase concentration, Hyperlordosi... |
OMIM:606612 |
| Neu-Laxova Syndrome |
|
Osteomalacia, Micrognathia, Abnormal nasolacrimal system morphology, Opisthotonus, Everted lower ... |
ORPHA:2671 |
| Cardiofaciocutaneous Syndrome 4 |
|
Cataract, Telecanthus, Sparse eyelashes, Joint hypermobility, Epicanthus, Ptosis, Absent eyebrow,... |
OMIM:615280 |
| Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Low-set ears, Cataract, Abnormality of the dentition, Dental malocclusion, Thick lower lip vermil... |
ORPHA:85321 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Cataract, Calcification of the auricular cartilage, Conductive hearing impairment, Abnormal form ... |
ORPHA:3042 |
| Idiopathic Panuveitis |
|
Cataract, Choroidal neovascularization, Posterior synechiae of the anterior chamber, Epiretinal m... |
ORPHA:280921 |
| Schaaf-Yang Syndrome |
|
Low-set ears, Short palpebral fissure, Mandibular prognathia, Arthrogryposis multiplex congenita,... |
OMIM:615547 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Elbow flexion contracture, Decreased nerve conduction velocity, Kyphosis, Elevated circulating cr... |
OMIM:618138 |
| Stickler Syndrome, Type Ii |
|
Abnormal vitreous humor morphology, Retinal detachment, Cataract |
OMIM:604841 |
| Warburg Micro Syndrome 3 |
|
Cataract, Microcornea, Optic atrophy, Downturned corners of mouth, Micrognathia, Kyphoscoliosis, ... |
OMIM:614222 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Optic atrophy, Mydriasis, Undetectable visual evoked potentials, Long philtrum, Cranial hyperosto... |
OMIM:259720 |
| Desbuquois Dysplasia 1 |
|
Platyspondyly, Microretrognathia, Long philtrum, Advanced tarsal ossification, Narrow mouth, Mala... |
OMIM:251450 |
| Hemochromatosis, Type 4 |
|
Cataract, Glucose intolerance, Diabetes mellitus, Impaired glucose tolerance |
OMIM:606069 |
| Peroxisome Biogenesis Disorder 9B |
|
Cataract, Rod-cone dystrophy, Ataxia |
OMIM:614879 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Iris hypopigmentation, High, narrow palate, Microcornea, Delayed eruption of teeth, Macrodontia, ... |
ORPHA:3214 |
| Neuroferritinopathy |
|
T2 hypointense thalamus, Decreased circulating ferritin concentration, Abnormal thalamic MRI sign... |
ORPHA:157846 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Trichiasis, Nuclear cataract, Joint contracture of the hand, Cleft upper lip, Abnormal dental ena... |
OMIM:601701 |
| Sandhoff Disease, Infantile Form |
|
Hepatosplenomegaly, Abnormal thalamic MRI signal intensity |
ORPHA:309155 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Bilateral ptosis, Sensorineural hearing impairment, Absent brainstem auditory resp... |
ORPHA:1215 |
| Osteogenesis Imperfecta, Type Iii |
|
Dentinogenesis imperfecta, Hearing impairment, Micrognathia, Recurrent fractures, Bowing of limbs... |
OMIM:259420 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Micrognathia, Sparse eyelashes, Absent eyelashes, Epicanthus, Absent eyebrow, Narrow palpebral fi... |
OMIM:268400 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Conical incisor, Carious teeth, Enamel hypoplasia, Sparse lateral eyebrow |
OMIM:614564 |
| Wieacker-Wolff Syndrome, Female-Restricted |
|
Low-set ears, Microretrognathia, Downturned corners of mouth, Long philtrum, Hip contracture, Lim... |
OMIM:301041 |
| Ullrich Congenital Muscular Dystrophy 1A |
|
Flexion contracture, Mildly elevated creatine kinase, Wrist hypermobility, Increased laxity of fi... |
OMIM:254090 |
| Rabin-Pappas Syndrome |
|
Cataract, Short palpebral fissure, Highly arched eyebrow, Conductive hearing impairment, Retrogna... |
OMIM:620155 |
| Kenny-Caffey Syndrome, Type 2 |
|
Anemia, Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia |
OMIM:127000 |
| Familial Osteodysplasia, Anderson Type |
|
Tooth malposition, Mandibular prognathia, Carious teeth, Failure of eruption of permanent teeth, ... |
ORPHA:2769 |
| Sandhoff Disease |
|
Kyphosis, Hearing impairment |
ORPHA:796 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Abnormal earlobe morphology, Downslanted palpebral fissures, Open bite, Thick lower lip vermilion... |
ORPHA:85293 |
| Cole-Carpenter Syndrome 2 |
|
Platyspondyly, Dentinogenesis imperfecta, Lambdoidal craniosynostosis, Microretrognathia, Osteope... |
OMIM:616294 |
| Vogt-Koyanagi-Harada Disease |
|
Cataract, Retinal detachment |
ORPHA:3437 |
| Distal Triplication 15Q |
|
Low-set ears, Abnormal helix morphology, Cupped ear, Retrognathia, Flexion contracture, Telecanth... |
ORPHA:314588 |
| Weill-Marchesani Syndrome 1 |
|
Cataract, Microspherophakia, Tooth malposition, Ectopia lentis, Hypoplasia of the maxilla, Spinal... |
OMIM:277600 |
| Trisomy 10P |
|
Low-set ears, Short palpebral fissure, Abnormal auditory evoked potentials, Retrognathia, Abnorma... |
ORPHA:171929 |
| Pierson Syndrome |
|
Cataract, Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypoplasia of the iris, Ri... |
OMIM:609049 |
| Cataract 15, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
| Cataract 33, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
| Fanconi-Bickel Syndrome |
|
Hypophosphatemia, Hypertriglyceridemia |
ORPHA:2088 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Cataract, Pigmentary retinopathy, Type II diabetes mellitus, Ataxia |
ORPHA:79095 |
| Carey-Fineman-Ziter Syndrome 1 |
|
Cataract, Microglossia, Retrognathia, Downslanted palpebral fissures, Flexion contracture, Microg... |
OMIM:254940 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2 |
|
Cataract |
OMIM:620425 |
| Marinesco-Sjogren Syndrome |
|
Elevated circulating creatine kinase concentration, Developmental cataract, Flexion contracture, ... |
OMIM:248800 |
| Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ... |
OMIM:165550 |
| Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Cataract, Epiphyseal stippling, Abnormality of the vertebral column, Hearing impairment |
OMIM:302950 |
| Oculopalatocerebral Syndrome |
|
Leukocoria, Remnants of the hyaloid vascular system |
OMIM:257910 |
| Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Cataract, Aplasia/Hypoplasia of the lens |
ORPHA:1381 |
| Infant Botulism |
|
Mydriasis, Hyponatremia, Ptosis, Keratoconjunctivitis sicca, Chronic otitis media |
ORPHA:178478 |
| Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Narrow mouth, Kyphosis |
OMIM:620007 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Dental crowding, Micrognathia, Narrow mouth, Sensorineural hearing impairment, Joint contracture,... |
OMIM:615381 |
| Joubert Syndrome 9 |
|
Cataract, Astigmatism, Retinal dystrophy |
OMIM:612285 |
| Cataract 24 |
|
Anterior lenticonus, Anterior polar cataract |
OMIM:601202 |
| Abcd Syndrome |
|
Abnormal auditory evoked potentials, Hearing impairment, Aganglionic megacolon, White eyebrow, Wh... |
OMIM:600501 |
| Hallermann-Streiff Syndrome |
|
Low-set ears, Natal tooth, Chorioretinal coloboma, Micrognathia, Narrow mouth, Sparse eyelashes, ... |
OMIM:234100 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Cataract, Mandibular prognathia, Optic atrophy, Hypoplasia of the zygomatic bone, Large earlobe, ... |
ORPHA:2715 |
| Mucopolysaccharidosis, Type Vii |
|
Platyspondyly, Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Anterior beaking of lo... |
OMIM:253220 |
| Infantile Refsum Disease |
|
Ataxia, Optic atrophy, Rod-cone dystrophy, Cataract |
ORPHA:772 |
| Elsahy-Waters Syndrome |
|
Low-set ears, Megalocornea, High palate, Increased cup-to-disc ratio, Cataract, Hypoplasia of the... |
OMIM:211380 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Platyspondyly, Bifid uvula, Hypoplasia of the odontoid process, Atlantoaxial instability, Hearing... |
OMIM:183900 |
| 16Q24.3 Microdeletion Syndrome |
|
Highly arched eyebrow, Chronic otitis media, Hearing impairment, Long philtrum, Micrognathia, Wid... |
ORPHA:261250 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Conductive hearing impairment, Micrognathia, Upslanted palpeb... |
ORPHA:3082 |
| Koolen-De Vries Syndrome |
|
Open mouth, Epicanthus, Blepharophimosis, Everted lower lip vermilion, High palate, Macrotia, Cat... |
OMIM:610443 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Narrow mouth, Joint contracture of the 5th finger, Epicanthus, Osteopenia, Microcornea, Low-set, ... |
ORPHA:363611 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Platyspondyly, Optic atrophy, Mydriasis, Hearing impairment, Long philtrum, Thick lower lip vermi... |
OMIM:619727 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Low-set ears, Highly arched eyebrow, Epicanthus, Smooth philtrum, Narrow palpebral fissure, Overf... |
OMIM:618653 |
| Lateral Meningocele Syndrome |
|
Low-set ears, Micrognathia, Short neck, High palate, Downslanted palpebral fissures, Biconcave ve... |
OMIM:130720 |
| Cardiomyopathy, Dilated, 1Ii |
|
Cataract |
OMIM:615184 |
| Dysostosis, Stanescu Type |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of the zygomat... |
ORPHA:1798 |
| Ruvalcaba Syndrome |
|
Dental crowding, Synostosis of carpal bones, Downslanted palpebral fissures, Abnormal vertebral e... |
ORPHA:3121 |
| Mccune-Albright Syndrome |
|
Pancytopenia, Hypophosphatemia, Elevated circulating growth hormone concentration, Increased circ... |
ORPHA:562 |
| 15Q24 Microdeletion Syndrome |
|
Abnormality of the dentition, Hearing impairment, Long philtrum, Downslanted palpebral fissures, ... |
ORPHA:94065 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Abnormal thalamic MRI signal intensity |
ORPHA:444013 |
| Congenital Sialidosis Type 2 |
|
Ataxia, Optic atrophy, Cataract, Cherry red spot of the macula, Umbilical hernia, Inguinal hernia... |
ORPHA:93400 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Low-set ears, Prominent crus of helix, Hip contracture, Sensorineural hearing impairment, Epicant... |
OMIM:619194 |
| 19P13.12 Microdeletion Syndrome |
|
Low-set ears, Conductive hearing impairment, Arthrogryposis multiplex congenita, Long philtrum, H... |
ORPHA:254346 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Platyspondyly, Kyphosis, Hearing impairment, Lumbar hyperlordosis, Micrognathia, Reduced bone min... |
ORPHA:94068 |
| Leigh Syndrome |
|
Agenesis of corpus callosum, Hyperalaninemia, Gliosis, Neutropenia, Anemia, Abnormal thalamic MRI... |
ORPHA:506 |
| Iatrogenic Botulism |
|
Mydriasis, Ptosis, Orthostatic hypotension |
ORPHA:254509 |
| Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Downturned corners of mouth, Hearing impairment, Ptosis, Orthostatic hypotension, Short philtrum,... |
OMIM:615510 |
| Wolfram Syndrome 1 |
|
Optic atrophy, Pigmentary retinopathy, Cataract, Ataxia, Diabetes mellitus |
OMIM:222300 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Platyspondyly, Cataract, Osteopenia, Pathologic fracture, Recurrent fractures, Increased suscepti... |
OMIM:259770 |
| Cystinosis, Nephropathic |
|
Decreased circulating carnitine concentration, Corneal crystals, Rickets, Hypomagnesemia, Hypopho... |
OMIM:219800 |
| Ruvalcaba Syndrome |
|
Dental crowding, Downslanted palpebral fissures, Limited elbow extension, Scoliosis, Kyphosis |
OMIM:180870 |
| Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Oculogyric crisis, Abnormal circulating biopterin concentration, Hypomagnesemia, Abnormal circula... |
ORPHA:1578 |
| Marfanoid Habitus With Situs Inversus |
|
Lens subluxation, Scoliosis, Mandibular prognathia, Kyphosis, Hyperextensibility of the finger jo... |
OMIM:609008 |
| Hurler Syndrome |
|
Hypoplasia of the odontoid process, Hearing impairment, Cranial hyperostosis, Bilateral ptosis, R... |
OMIM:607014 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Abnormality of the dentition, Dental crowding, Eruption failure, Long philtrum, Hypercalcemia, Mi... |
ORPHA:476126 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Macrodontia of permanent maxillary central incisor, Hearing impairment, Thick vermilion border, O... |
OMIM:620114 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Osteoporosis, Scoliosis, Kyphosis |
OMIM:618234 |
| Ifap Syndrome 2 |
|
Cataract, Keratoconjunctivitis sicca, Keratitis, Posterior blepharitis |
OMIM:619016 |
| Treacher-Collins Syndrome |
|
Open bite, Micrognathia, Narrow mouth, Absent eyelashes, High palate, Iris coloboma, Blepharospas... |
ORPHA:861 |
| Lathosterolosis |
|
Cataract, Elevated circulating lathosterol concentration, Long philtrum, Thick upper lip vermilio... |
OMIM:607330 |
| Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hypocalcemia, H... |
ORPHA:411634 |
| Oculodentodigital Dysplasia |
|
Cataract, Microcornea, Short palpebral fissure, Carious teeth, Broad alveolar ridges, Selective t... |
OMIM:164200 |
| Stickler Syndrome |
|
Hearing impairment, Open bite, Micrognathia, Sensorineural hearing impairment, Epicanthus, Short ... |
ORPHA:828 |
| Crisponi Syndrome |
|
Limitation of joint mobility, Long philtrum, Camptodactyly of finger, Micrognathia, Narrow mouth,... |
ORPHA:1545 |
| Oculo-Palato-Cerebral Syndrome |
|
High, narrow palate, Cataract, Macrotia, Joint hypermobility, Leukocoria, Thickened helices, Clef... |
ORPHA:2714 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Kyphosis, Elbow flexion contracture, Joint stiffness, Increased LDL cholesterol concentration, Hy... |
ORPHA:98863 |
| Kniest Dysplasia |
|
Platyspondyly, Cataract, Delayed epiphyseal ossification, Conductive hearing impairment, Limitati... |
OMIM:156550 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Low-set ears, Cataract, Short palpebral fissure, Downturned corners of mouth, Downslanted palpebr... |
OMIM:614230 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Hypocalcemic seizures, Hyperphosphatemia, ... |
OMIM:241410 |
| Metatropic Dysplasia |
|
Platyspondyly, Anisospondyly, Hypoplasia of the odontoid process, Caudal appendage, Abnormal ench... |
OMIM:156530 |
| Cataract 40 |
|
Nuclear cataract, Sutural cataract |
OMIM:302200 |
| Micro Syndrome |
|
Cataract, Microcornea, Optic atrophy, Low-set, posteriorly rotated ears, Joint stiffness, Microgn... |
ORPHA:2510 |
| Zellweger Syndrome |
|
Cataract, Optic atrophy, Micrognathia, Epiphyseal stippling, Upslanted palpebral fissure, Sensori... |
ORPHA:912 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypoalbuminemia, Hypomagnesemia, Osteomyelitis, Hypocalcemia, Decreased circulating prealbumin co... |
ORPHA:37042 |
| Norrie Disease |
|
Cataract, Abnormal helix morphology, Optic atrophy, Ectopia lentis, Hypoplasia of the iris, Macro... |
ORPHA:649 |
| Fibrous Dysplasia Of Bone |
|
Hyperpituitarism, Hypophosphatemia, Hypercalcemia, Elevated circulating growth hormone concentration |
ORPHA:249 |
| Dent Disease 1 |
|
Hypophosphatemia |
OMIM:300009 |
| Mucolipidosis Iii Alpha/Beta |
|
Increased serum beta-hexosaminidase, Mandibular prognathia, Kyphosis, Limitation of joint mobilit... |
OMIM:252600 |
| Geroderma Osteodysplasticum |
|
Platyspondyly, Abnormality of the dentition, Hypoplasia of the maxilla, Osteopenia, Periodontitis... |
OMIM:231070 |
| Hypomagnesemia 2, Renal |
|
Hypokalemia, Hypomagnesemia |
OMIM:154020 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Carious teeth, Hearing impairment, Lacrimal gland hypoplasia, Limbal stem cell deficiency, Delaye... |
OMIM:149730 |
| Intestinal Botulism |
|
Mydriasis, Ptosis |
ORPHA:178481 |
| Cowden Syndrome 5 |
|
Cataract, Hypoplasia of the maxilla, Hearing impairment, Furrowed tongue, Micrognathia, Narrow mo... |
OMIM:615108 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Spinal rigidity, Elevated circulating creatine kinase concentration, Ptosis, Kyphosis, Neuropathi... |
ORPHA:352447 |
| Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
| Rubinstein-Taybi Syndrome 1 |
|
Low-set ears, Hearing impairment, Micrognathia, Narrow mouth, Epicanthus, High palate, High, narr... |
OMIM:180849 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Low-set ears, Cataract, Sparse eyebrow, Hamartoma of the orbital region, Hypoplasia of the maxill... |
ORPHA:2399 |
| Toxin-Mediated Infectious Botulism |
|
Mydriasis, Ptosis |
ORPHA:230800 |
| Intellectual Developmental Disorder, Autosomal Dominant 73 |
|
Low-set ears, Recurrent otitis media, Ankyloglossia, Cleft soft palate, Epiblepharon, Thoracolumb... |
OMIM:620450 |
| Arthrogryposis, Distal, Type 4 |
|
Hypoplastic helices, Osteopenia, Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Distal arthr... |
OMIM:609128 |
| Cutis Marmorata Telangiectatica Congenita |
|
Micrognathia, Reduced bone mineral density, Leukocoria, Orofacial cleft, Scoliosis |
ORPHA:1556 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Abnormal thalamic MRI signal intensity |
ORPHA:254930 |
| Cole-Carpenter Syndrome |
|
Abnormal form of the vertebral bodies, Delayed eruption of teeth, Downslanted palpebral fissures,... |
ORPHA:2050 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Hypomagnesemia, Tremor, Transient hypophosphatemia, Hyperkalemia, Mildly el... |
ORPHA:79102 |
| Marden-Walker Syndrome |
|
High, narrow palate, Low-set ears, Joint contracture of the hand, Congenital contracture, Long ph... |
OMIM:248700 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Low-set ears, Highly arched eyebrow, Everted upper lip vermilion, Hearing impairment, Downslanted... |
OMIM:619951 |
| Familial Isolated Hypoparathyroidism |
|
Abnormal dental enamel morphology, Cataract, Delayed eruption of teeth, Hypocalcemia |
ORPHA:2238 |
| Juvenile Sialidosis Type 2 |
|
Ataxia, Optic atrophy, Cataract, Umbilical hernia, Cherry red spot of the macula, Inguinal hernia... |
ORPHA:93399 |
| 2Q31.1 Microdeletion Syndrome |
|
Low-set ears, Iris coloboma, Short palpebral fissure, Downturned corners of mouth, Long philtrum,... |
ORPHA:251014 |
| Frank-Ter Haar Syndrome |
|
Low-set ears, Megalocornea, Micrognathia, Anterior concavity of thoracic vertebrae, Prominent coc... |
OMIM:249420 |
| Mucopolysaccharidosis Type 6 |
|
Hearing impairment, Thick lower lip vermilion, Joint stiffness, Short neck, Sinusitis, Macrogloss... |
ORPHA:583 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Broad alveolar ridges, Conductive hearing impairment, Downturned corners of mouth, Abnormal mandi... |
ORPHA:2215 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Cataract, Abnormal helix morphology, Joint contracture of the hand, Elevated circulating long cha... |
OMIM:214110 |
| Masa Syndrome |
|
Kyphosis, Hyperlordosis |
OMIM:303350 |
| Doors Syndrome |
|
Low-set ears, Atresia of the external auditory canal, Short lingual frenulum, Open mouth, Lumbar ... |
ORPHA:79500 |
| Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
| Emery-Dreifuss Muscular Dystrophy |
|
Kyphosis, Elbow flexion contracture, Joint stiffness, Increased LDL cholesterol concentration, Hy... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Kyphosis, Elbow flexion contracture, Joint stiffness, Increased LDL cholesterol concentration, Hy... |
ORPHA:98853 |
| Mogs-Cdg |
|
Optic atrophy, Short palpebral fissure, Retrognathia, Long eyelashes, Thoracic scoliosis, Sensori... |
ORPHA:79330 |
| Ruijs-Aalfs Syndrome |
|
Cataract, Posterior subcapsular cataract, Elbow flexion contracture, Micrognathia, Osteoporosis, ... |
OMIM:616200 |
| Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
| Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Low-set ears, Micrognathia, Orofacial cleft, Deep philtrum, Abnormal pinna morphology, Incomplete... |
ORPHA:77300 |
| Osteogenesis Imperfecta, Type Iv |
|
Dentinogenesis imperfecta, Otosclerosis, Hearing impairment, Recurrent fractures, Reduced bone mi... |
OMIM:166220 |
| Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy |
|
Macroglossia, Kyphosis, Hearing impairment, Elevated circulating creatine kinase concentration |
OMIM:151800 |
| Acrofrontofacionasal Dysostosis 1 |
|
Optic atrophy, Mandibular prognathia, Cleft upper lip, Long eyelashes, Malar flattening, Iris atr... |
OMIM:201180 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Iris hypopigmentation, Cataract, Limitation of joint mobility, Ocular albinism, Narrow mouth, Abn... |
ORPHA:2719 |
| 1Q41Q42 Microdeletion Syndrome |
|
Abnormality iris morphology, Upslanted palpebral fissure, Submucous cleft hard palate, Thick verm... |
ORPHA:250999 |
| Gm1 Gangliosidosis |
|
Platyspondyly, Low-set ears, Mandibular prognathia, Optic atrophy, Coarse metaphyseal trabeculari... |
ORPHA:354 |
| Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Velopharyngeal insufficiency, Conductive hearing impairment, Peg-shaped maxillary la... |
ORPHA:2751 |
| Arboleda-Tham Syndrome |
|
Low-set ears, Recurrent otitis media, Underdeveloped tragus, Narrow mouth, Epicanthus, Chronic ot... |
OMIM:616268 |
| Trichinellosis |
|
Conjunctival hyperemia, Tinnitus, Facial palsy, Trismus, Anisocoria, Conjunctivitis, Abnormal uve... |
ORPHA:863 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Tooth malposition, Narrow palate, Osteopenia, Periodontitis, Bilateral ptosis, Macrotia, Microgna... |
ORPHA:536532 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Hyperphosphatemia, Hearing impairment, Increased bone mineral density, Recurrent frac... |
OMIM:239000 |
| Otopalatodigital Syndrome Type 2 |
|
Low-set ears, Synostosis of carpal bones, Hearing impairment, Carpal synostosis, Micrognathia, Na... |
ORPHA:90652 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Cataract, Abnormality of the dentition, Limitation of joint mobility, Hearing impairment, Abnorma... |
ORPHA:90153 |
| Congenital Disorder Of Glycosylation, Type Ij |
|
Cataract, Micrognathia, Tremor, Hypsarrhythmia, Flexion contracture, Hypoproteinemia |
OMIM:608093 |
| Peters-Plus Syndrome |
|
Low-set ears, Hearing impairment, Micrognathia, Short lingual frenulum, Limited elbow movement, S... |
OMIM:261540 |
| Cowden Syndrome 6 |
|
Cataract, Hypoplasia of the maxilla, Hearing impairment, Furrowed tongue, Micrognathia, Narrow mo... |
OMIM:615109 |
| Srd5A3-Cdg |
|
Cataract, Abnormal sacrum morphology, Optic atrophy, Kyphosis |
ORPHA:324737 |
| Cataract 16, Multiple Types |
|
Posterior polar cataract, Lenticonus, Developmental cataract |
OMIM:613763 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
High, narrow palate, Low-set ears, Microcornea, Sparse eyebrow, Mandibular prognathia, Retrognath... |
ORPHA:464738 |
| Bartter Syndrome, Type 1, Antenatal |
|
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hype... |
OMIM:601678 |
| Spastic Paraplegia 53, Autosomal Recessive |
|
Dystonia, Kyphosis, Joint hypermobility |
OMIM:614898 |
| Monosomy 9Q22.3 |
|
Low-set ears, Cataract, Abnormality of the vertebral column, Delayed eruption of teeth, Downslant... |
ORPHA:77301 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Hypophosphatemia, Azotemia |
OMIM:104200 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Sen... |
OMIM:609136 |
| Progressive Non-Infectious Anterior Vertebral Fusion |
|
Proximal radio-ulnar synostosis, Abnormality of the vertebral column, Downslanted palpebral fissu... |
ORPHA:2062 |
| Opsismodysplasia |
|
Hypophosphatemia |
OMIM:258480 |
| Weill-Marchesani Syndrome 4 |
|
Ectopia lentis, Posterior synechiae of the anterior chamber, Phakodonesis, Joint stiffness, Irido... |
OMIM:613195 |
| Lymphedema-Hypoparathyroidism Syndrome |
|
Cataract, Telecanthus, Ptosis |
OMIM:247410 |
| Orofaciodigital Syndrome Ii |
|
Hypoplasia of the maxilla, Conductive hearing impairment, Lobulated tongue, Telecanthus, Microgna... |
OMIM:252100 |
| 2P15P16.1 Microdeletion Syndrome |
|
Low-set ears, Hearing impairment, Narrow mouth, Epicanthus, Blepharophimosis, Everted lower lip v... |
ORPHA:261349 |
| 3C Syndrome |
|
High, narrow palate, Iris coloboma, Low-set ears, Optic atrophy, Chorioretinal coloboma, Downslan... |
ORPHA:7 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Hand tremor, Decreased nerve conduction velocity, Head tremor, Sensorineural hearing impairment, ... |
ORPHA:101085 |
| Tay-Sachs Disease |
|
Increased serum beta-hexosaminidase, Gliosis, Abnormal thalamic MRI signal intensity |
ORPHA:845 |
| Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase |
ORPHA:99845 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Carious teeth, Camptodactyly of finger, Joint contracture of the 5th finger, Sensorineural hearin... |
ORPHA:1883 |
| Achalasia-Addisonianism-Alacrima Syndrome |
|
Optic atrophy, Orthostatic hypotension, Abnormal autonomic nervous system physiology, Anisocoria,... |
OMIM:231550 |
| Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
| Wagro Syndrome |
|
Low-set ears, Cataract, Dental crowding, Downslanted palpebral fissures, Aniridia, Micrognathia, ... |
OMIM:612469 |
| Wound Botulism |
|
Mydriasis, Ptosis |
ORPHA:178475 |
| Wolf-Hirschhorn Syndrome |
|
Abnormal vertebral morphology, Hearing impairment, Megalocornea, Micrognathia, Epicanthus, Iris c... |
ORPHA:280 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Cataract, Osteopenia, Prominent ear helix, Elbow flexion contracture, Narrow palpebral fissure, T... |
OMIM:614438 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Cataract, Peters anomaly, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dy... |
OMIM:614643 |
| Thanatophoric Dysplasia |
|
Platyspondyly, Low-set ears, Hearing impairment, Downslanted palpebral fissures, Joint stiffness,... |
ORPHA:2655 |
| Frontofacionasal Dysplasia |
|
Cataract, Microcornea, Ankyloblepharon, Hypoplasia of the frontal bone, Bifid uvula, Cleft upper ... |
OMIM:229400 |
| Infantile Nephropathic Cystinosis |
|
Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia |
ORPHA:411629 |
| Microphthalmia With Brain And Digit Anomalies |
|
Cataract, Microcornea, Chorioretinal coloboma, Sclerocornea, Iris coloboma, Retinal dystrophy |
ORPHA:139471 |
| Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Abnormal hypothalamus morphology, Pituitar... |
OMIM:614963 |
| Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Downturned corners of mouth, Hearing impairment, Bilateral ptosis, Thin upper lip vermilion, Epic... |
OMIM:619557 |
| Nail-Patella Syndrome |
|
Keratoconus, Microcornea, Cataract, Cleft upper lip, Lumbar hyperlordosis, Limited elbow extensio... |
OMIM:161200 |
| Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Low-set ears, Cataract, Hearing impairment, Long philtrum, Downslanted palpebral fissures, Megalo... |
OMIM:601353 |
| Marshall Syndrome |
|
Cataract, Sparse eyebrow, Hypoplasia of the maxilla, Ectopia lentis, Hypoplasia of the zygomatic ... |
ORPHA:560 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
EEG with abnormally slow frequencies, Optic atrophy, Elbow flexion contracture, Astigmatism, EEG ... |
OMIM:618493 |
| Short Syndrome |
|
Low-set ears, Cataract, Dental malocclusion, Downturned corners of mouth, Delayed eruption of tee... |
OMIM:269880 |
| Coats Disease |
|
Leukocoria, Retinal telangiectasia, Exudative retinal detachment |
OMIM:300216 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Diastema, Bicoronal synostosis, Agenesis of molar, Microdontia, Joint hypermobility, ... |
OMIM:619718 |
| Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
| Triploidy |
|
Cataract, Low-set, posteriorly rotated ears, Micrognathia, Narrow mouth, Wide mouth, Decreased sk... |
ORPHA:3376 |
| Bickerstaff Brainstem Encephalitis |
|
Mydriasis, Facial paralysis, Decreased motor nerve conduction velocity, Abnormality of the autono... |
ORPHA:79138 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Macroglossia, Elevated circulating creatine kinase concentration, Hyperlordosis, Achilles tendon ... |
OMIM:607155 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Low-set ears, Hearing impairment, Short neck, Prominent coccyx, Thickened ears, Chronic otitis me... |
OMIM:300966 |
| Witteveen-Kolk Syndrome |
|
Hearing impairment, Hyperplasia of the maxilla, Narrow mouth, Open mouth, Glue ear, Sensorineural... |
OMIM:613406 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hyperphosphatemia, Hyperostosis, Taurodontia, Conjunctival whitish salt-like deposits, Enamel hyp... |
OMIM:211900 |
| Rhombencephalosynapsis |
|
Fusion of the left and right thalami |
ORPHA:59315 |
| Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Anisocoria, Deep philtrum |
ORPHA:289483 |
| Codas Syndrome |
|
Cataract, Crumpled ear, Hypoplasia of the odontoid process, Conductive hearing impairment, Delaye... |
OMIM:600373 |
| 3M Syndrome |
|
Delayed eruption of teeth, Long philtrum, Abnormal dental enamel morphology, Increased vertebral ... |
ORPHA:2616 |
| Gitelman Syndrome |
|
Hypokalemia, Increased circulating renin level, Hypomagnesemia |
OMIM:263800 |
| Myhre Syndrome |
|
Platyspondyly, Cataract, Short palpebral fissure, Craniofacial hyperostosis, Hypoplasia of the ma... |
ORPHA:2588 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Thick lower lip vermilion, Wide mouth, Tremor, Joint hypermobility, Abnormal pinna morphology, Ma... |
OMIM:300354 |
| Atelis Syndrome 2 |
|
Low-set ears, Short palpebral fissure, Downturned corners of mouth, Diastema, Thick lower lip ver... |
OMIM:620185 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Hypoplasia of the maxilla, High palate, Scoliosis, Mandibular prognathia, Kyphosis |
OMIM:300676 |
| Cdags Syndrome |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Sparse eyebrow, Malar flattening, Sparse e... |
OMIM:603116 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Downturned corners of mouth, Sensorineural hearing impairment, Dystonia, Scoliosis, Kyphosis |
ORPHA:464282 |
| Atypical Rett Syndrome |
|
Pill-rolling tremor, Tremor, EEG abnormality, Abnormal autonomic nervous system physiology, Dysto... |
ORPHA:3095 |
| Gorlin Syndrome |
|
Abnormal vertebral morphology, Cataract, Iris coloboma, Carious teeth, Mandibular prognathia, Ver... |
ORPHA:377 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Low-set ears, Notched primary central incisor |
OMIM:620062 |
| Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:1354 |
| Inhalational Botulism |
|
Mydriasis, Ptosis |
ORPHA:254504 |
| De Barsy Syndrome |
|
Low-set ears, Cataract, Osteopenia, Delayed eruption of teeth, Downslanted palpebral fissures, La... |
ORPHA:2962 |
| Hurler-Scheie Syndrome |
|
Camptodactyly of finger, Contracture of the distal interphalangeal joint of the fingers, Microgna... |
OMIM:607015 |
| Cornelia De Lange Syndrome 6 |
|
Low-set ears, Highly arched eyebrow, Sparse eyebrow, Cleft lip, Macrodontia of permanent maxillar... |
OMIM:620568 |
| Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Mydriasis, Abnormal circulating phytanic acid concentration |
ORPHA:247815 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal thalamic MRI signal intensity |
ORPHA:485421 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Microretrognathia, Upslanted palpebral fissure, Paroxysmal dystonia, Epicanthus, Kyphosis |
OMIM:619909 |
| Enamel-Renal Syndrome |
|
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Abnormal dental enamel morpho... |
ORPHA:1031 |
| Lopes-Maciel-Rodan Syndrome |
|
Dystonia, Scoliosis, Kyphosis, Tremor |
OMIM:617435 |
| Bartter Syndrome, Type 2, Antenatal |
|
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hypo... |
OMIM:241200 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Abnormal thalamic MRI signal intensity |
ORPHA:70595 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic atrophy, Exaggerated startle response, Optic disc pallor, Flexion contracture, Scoliosis, K... |
OMIM:609541 |
| Proboscis Lateralis |
|
Chorioretinal coloboma, Unilateral narrow palpebral fissure, Abnormal nasolacrimal system morphol... |
ORPHA:141099 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Abnormal helix morphology, Synostosis of carpal bones, Abnormal dental enamel morphology, Low-set... |
ORPHA:1005 |
| Rhizomelic Syndrome, Urbach Type |
|
Limitation of joint mobility, Abnormal form of the vertebral bodies, Micrognathia, Short neck, Hi... |
ORPHA:3098 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Decreased circulating carnitine concentration, Hypophosphatemic rickets, Hypokalemi... |
ORPHA:3337 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Cataract, Anisospondyly, Pterygium, Micrognathia, Narrow mouth, Malar flattening, Posteriorly rot... |
OMIM:224410 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Cataract, Microcornea, Optic atrophy, Micrognathia, Narrow mouth, Orofacial cleft, Septo-optic dy... |
ORPHA:3301 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Kyphosis, Elbow flexion contracture, Joint stiffness, Increased LDL cholesterol concentration, Hy... |
ORPHA:98855 |
| AymƩ-Gripp Syndrome |
|
Low-set ears, Limitation of joint mobility, Megalocornea, Narrow mouth, Sensorineural hearing imp... |
ORPHA:1272 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Telecanthus, Narrow mouth, Upslanted palpebral fissure, Otitis media, Joint hypermobility, Thin u... |
OMIM:618050 |
| Multiple Sulfatase Deficiency |
|
Cataract, Optic atrophy, Joint stiffness, Thick eyebrow, Abnormality of peripheral nerve conducti... |
ORPHA:585 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Keratitis, Corneal neovascularization, Keratoconjunctivitis sicca, Entropion, Ectropion... |
OMIM:278730 |
| Alg1-Cdg |
|
Hypoalbuminemia, Limitation of joint mobility, Scoliosis, Kyphosis |
ORPHA:79327 |
| Idiopathic Juvenile Osteoporosis |
|
Osteoporosis, Vertebral compression fracture, Recurrent fractures, Kyphosis |
ORPHA:85193 |
| Raine Syndrome |
|
Hypophosphatemia |
OMIM:259775 |
| Sympathetic Ophthalmia |
|
Cataract, Macular edema, Anterior chamber cells, Posterior synechiae of the anterior chamber, Cor... |
ORPHA:79098 |
| Pseudohypoparathyroidism Type 1C |
|
Cataract, Ectopic ossification, Hyperphosphatemia, Delayed eruption of teeth, Laryngeal dystonia,... |
ORPHA:79444 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Platyspondyly, Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Vertebral wed... |
ORPHA:93314 |
| Neuroocular Syndrome 1 |
|
Hooded upper eyelid, Low-set ears, Ankyloglossia, Torus palatinus, Lens coloboma, Brushfield spot... |
OMIM:619539 |
| Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Trichiasis, Sparse eyebrow, Thin eyebrow, Micrognathia, Malar flattening, Sensorineural hearing i... |
OMIM:609944 |
| Smith-Mccort Dysplasia 1 |
|
Platyspondyly, Hypoplastic facial bones, Hypoplasia of the odontoid process, Atlantoaxial instabi... |
OMIM:607326 |
| Neu-Laxova Syndrome 2 |
|
Low-set ears, Cataract, Micrognathia, Short neck, Ablepharon, High palate, Scoliosis, Cleft palate |
OMIM:616038 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Low-set ears, Hearing impairment, Micrognathia, Epicanthus, Short neck, Cleft lip, Downturned cor... |
OMIM:616894 |
| Pseudohypoparathyroidism Type 1A |
|
Cataract, Band keratopathy, Ectopic ossification, Delayed eruption of teeth, Hyperphosphatemia, L... |
ORPHA:79443 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Low-set ears, Carious teeth, Natal tooth, Micrognathia, Sensorineural hearing impairment, High pa... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Low-set ears, Carious teeth, Natal tooth, Micrognathia, Sensorineural hearing impairment, High pa... |
ORPHA:353277 |
| Lymphedema-Distichiasis Syndrome |
|
Cleft upper lip, Micrognathia, Recurrent corneal erosions, Distichiasis, Ptosis, Ectropion, Conju... |
OMIM:153400 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Arthrogryposis multiplex congenita, Micrognathia, Multiple joint contractures, Femur fracture, Ab... |
OMIM:618291 |
| Premature Aging Syndrome, Okamoto Type |
|
Low-set ears, Cataract, Abnormal pinna morphology, Osteoporosis |
OMIM:601811 |
| Pelizaeus-Merzbacher Disease |
|
Optic atrophy, Hearing impairment, Joint stiffness, Choreoathetosis, Dystonia, Scoliosis, Kyphosi... |
ORPHA:702 |
| 3Q29 Microdeletion Syndrome |
|
Low-set ears, Cataract, Abnormality of the dentition, Dental crowding, Downslanted palpebral fiss... |
ORPHA:65286 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... |
ORPHA:206443 |
| Foodborne Botulism |
|
Mydriasis, Ptosis |
ORPHA:228371 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
High, narrow palate, Ectopia lentis, Retrognathia, Downslanted palpebral fissures, Keratoconjunct... |
OMIM:616914 |
| Bartter Syndrome Type 4 |
|
Hypomagnesemia, Protruding ear, Hypokalemia, Hyponatremia, Bilateral sensorineural hearing impair... |
ORPHA:89938 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Microcornea, Facial paralysis, Hypoplasia of the iris, Ectopia pupillae, Peripapillary atrophy, A... |
OMIM:175780 |
| Cerebrotendinous Xanthomatosis |
|
Cataract, Abnormal circulating cholesterol concentration, Xanthelasma, Osteoporosis, EEG with gen... |
OMIM:213700 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Head titubation, Absent brainstem auditory responses, Increased circulating ferritin concentratio... |
ORPHA:3240 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Tooth malposition, Ectopia pupillae, Recurrent otitis media, Open mouth, Axenfeld anomaly, Sensor... |
ORPHA:261552 |
| Autosomal Recessive Robinow Syndrome |
|
Synostosis of carpal bones, Hearing impairment, Open bite, Ankyloglossia, Micrognathia, Epicanthu... |
ORPHA:1507 |
| Acute Disseminated Encephalomyelitis |
|
Abnormal thalamic MRI signal intensity |
ORPHA:83597 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Spontaneous hemolytic crises, Stomatocytosis, Decreased thalamic volume, Hepatosplenomegaly, Conj... |
ORPHA:168577 |
| Autosomal Dominant Optic Atrophy And Cataract |
|
Optic atrophy, Posterior subcapsular cataract, Cataract, Somatic sensory dysfunction, Cerulean ca... |
ORPHA:67036 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Microcornea, Abnormality of the dentition, Hearing impairment, Protruding ear, Keratoco... |
ORPHA:1806 |
| Cadds |
|
Cataract, Micrognathia, Sensorineural hearing impairment, Increased circulating very long-chain f... |
ORPHA:369942 |
| Facial Spasm |
|
Anisocoria |
OMIM:134300 |
| Alpha-Mannosidosis, Adult Form |
|
Ataxia, Optic disc pallor, Corneal opacity, Cataract |
ORPHA:309288 |
| Cowden Syndrome 1 |
|
Cataract, Hypoplasia of the maxilla, Hearing impairment, Furrowed tongue, Micrognathia, Narrow mo... |
OMIM:158350 |
| Vascular Ehlers-Danlos Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Keratoconus, Carious teeth, Periodontitis, Narrow mouth, Epic... |
ORPHA:286 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Carious teeth, Dental crowding, Downturned corners of mouth, Narrow maxilla, Upslanted palpebral ... |
OMIM:617602 |
| Chondrodysplasia Punctata, Autosomal Dominant |
|
Cataract, Epiphyseal stippling, Hip contracture, Knee flexion contracture, Hypoplasia of the nasa... |
OMIM:118650 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
High, narrow palate, Scoliosis, Kyphosis, Joint hypermobility |
ORPHA:2181 |
| Werner Syndrome |
|
Cataract, Diabetes mellitus, Retinal degeneration |
OMIM:277700 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Insulin resistance, Cataract, Type I diabetes mellitus, Pigmentary retinopathy, Glucose intoleran... |
OMIM:606721 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
High, narrow palate, Scoliosis, Kyphosis |
OMIM:618124 |
| Postencephalitic Parkinsonism |
|
Oculogyric crisis, Resting tremor, Bilateral ptosis, Open mouth, Tremor by anatomical site, Campt... |
ORPHA:97349 |
| X-Linked Intellectual Disability, Snyder Type |
|
Low-set ears, Narrow mouth, Everted lower lip vermilion, High palate, Sparse eyebrow, Short philt... |
ORPHA:3063 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Cataract, Carious teeth, Dental crowding, Natal tooth, Dental malocclusion, Conductive hearing im... |
ORPHA:353281 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Joint contracture, Exa... |
OMIM:616881 |
| Mowat-Wilson Syndrome |
|
Cataract, Microcornea, Tooth malposition, Cupped ear, Delayed eruption of teeth, Chorioretinal co... |
OMIM:235730 |
| Basal Cell Nevus Syndrome 1 |
|
Cataract, Iris coloboma, Mandibular prognathia, Vertebral wedging, Cleft upper lip, Kyphoscoliosi... |
OMIM:109400 |
| Marfan Syndrome |
|
Open bite, Micrognathia, Limited elbow movement, Flat cornea, Lens luxation, High, narrow palate,... |
ORPHA:558 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria |
OMIM:300858 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hyperbilirubinemia, Thrombocytopenia, Thalamic hemorrhage |
ORPHA:464321 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Accessory spleen, Fusion of the left and right thalami |
OMIM:619306 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Coronal craniosynostosis, Hearing impairment, Abnormal dental enamel morphology, Abnormal dental ... |
ORPHA:85199 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Upper limb postural tremor, Abnormal auditory evoked potentials, Abnormality of somatosensory evo... |
ORPHA:99027 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Iris hypopigmentation, Cataract, Hearing impairment, Ocular albinism, High palate, Reduced bone m... |
ORPHA:2720 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Cataract, Optic atrophy, Ectopia lentis, Dental crowding, Joint stiffness, Recurrent fractures, O... |
ORPHA:394 |
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Ptosis, Facial palsy, Scoliosis, Arthrogryposis multiplex congenita, Kyphosis |
OMIM:617143 |
| Hydranencephaly |
|
Dysgenesis of the thalamus, Atrophic pituitary gland, Thalamic edema |
ORPHA:2177 |
| Blomstrand Lethal Chondrodysplasia |
|
Platyspondyly, Cataract, Low-set ears, Synostosis of joints, Natal tooth, Long philtrum, Telecant... |
ORPHA:50945 |
| Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Hearing impairment, Thick lower lip vermilion, Widely spaced teeth, Re... |
OMIM:309900 |
| Bardet-Biedl Syndrome 1 |
|
Insulin resistance, Cataract, Hyperautofluorescent macular lesion, Attenuation of retinal blood v... |
OMIM:209900 |
| Menke-Hennekam Syndrome 1 |
|
Low-set ears, Everted upper lip vermilion, Hearing impairment, Micrognathia, Epicanthus, Blepharo... |
OMIM:618332 |
| Microphthalmia, Syndromic 5 |
|
Cataract, Microcornea, Retinal dystrophy, Optic nerve hypoplasia |
OMIM:610125 |
| Fucosidosis |
|
Abnormality of the dentition, Hearing impairment, Corneal opacity, Anterior beaking of lumbar ver... |
ORPHA:349 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Cataract, Block vertebrae, Hypoplasia of the odontoid process, Failure of eruption of permanent t... |
OMIM:272460 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
EEG abnormality, Dystonia, Kyphosis |
ORPHA:500180 |
| Zimmermann-Laband Syndrome 1 |
|
Low-set ears, Cataract, Highly arched eyebrow, Mandibular prognathia, Downturned corners of mouth... |
OMIM:135500 |
| Smith-Lemli-Opitz Syndrome |
|
Micrognathia, Sensorineural hearing impairment, Epicanthus, Short neck, Iris coloboma, Cataract, ... |
ORPHA:818 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Platyspondyly, Thoracolumbar kyphosis, Delayed epiphyseal ossification, Elbow flexion contracture... |
ORPHA:93360 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Low-set ears, Mandibular prognathia, Widely-spaced maxillary central incisors, Diastema, Thick lo... |
OMIM:301040 |
| Osteogenesis Imperfecta, Type Viii |
|
Platyspondyly, Dentinogenesis imperfecta, Osteopenia, Recurrent fractures, Decreased skull ossifi... |
OMIM:610915 |
| Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
|
Notched primary central incisor, Cleft lip, Corneal opacity |
OMIM:620519 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Low-set ears, Recurrent otitis media, Ankyloglossia, Micrognathia, Sensorineural hearing impairme... |
OMIM:619841 |
| Noonan Syndrome 14 |
|
High, narrow palate, Low-set ears, Sparse eyebrow, Long philtrum, Downslanted palpebral fissures,... |
OMIM:619745 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Limitation of joint mobility, Abnormal nasolacrimal system morphology, Elbow ankylosis, Macrotia,... |
ORPHA:2658 |
| Mend Syndrome |
|
Low-set ears, Cataract, Microretrognathia, Micrognathia, Upslanted palpebral fissure, Anterior po... |
OMIM:300960 |
| Lathosterolosis |
|
Cataract, Microcornea, Downturned corners of mouth, Long philtrum, Downslanted palpebral fissures... |
ORPHA:46059 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the zygomatic bone, Aplasia/Hypoplasia of the tongue, Downslanted palpebral fissure... |
ORPHA:958 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Anemia, Splenomegaly, Hypophosphatemia, Hypocalcemia |
ORPHA:667 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Ataxia, Optic atrophy, Pigmentary retinopathy, Cataract |
OMIM:610651 |
| Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
| Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Abnormality of the diencephalon |
ORPHA:2570 |
| Dyskeratosis Congenita |
|
Cataract, Hypoplasia of the maxilla, Carious teeth, Periodontitis, Oral leukoplakia, Abnormality ... |
ORPHA:1775 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Cataract, Telecanthus, Hypocalcemia |
ORPHA:1563 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hypercalcemia, Hyperphosphatemia |
OMIM:617994 |
| Lowe Oculocerebrorenal Syndrome |
|
Platyspondyly, Elevated amniotic fluid alpha-fetoprotein, Joint contracture of the hand, Rickets,... |
OMIM:309000 |
| Pseudoachondroplasia |
|
Platyspondyly, Atlantoaxial dislocation, Delayed epiphyseal ossification, Hypoplasia of the odont... |
OMIM:177170 |
| Marshall-Smith Syndrome |
|
Low-set ears, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Bilateral conductive ... |
OMIM:602535 |
| Meningioma |
|
Secondary growth hormone deficiency, Hypothalamic hypothyroidism, Increased circulating prolactin... |
ORPHA:2495 |
| Cleidocranial Dysplasia 1 |
|
Absent paranasal sinuses, Hearing impairment, Micrognathia, Delayed pubic bone ossification, Dela... |
OMIM:119600 |
| Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion |
|
Low-set ears, Abnormality of the dentition, Long philtrum, Smooth philtrum, Short philtrum, Scoli... |
ORPHA:261190 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Low-set ears, Highly arched eyebrow, Long philtrum, Tented upper lip vermilion, Thin upper lip ve... |
OMIM:619244 |
| Genitopalatocardiac Syndrome |
|
Low-set ears, Downturned corners of mouth, Non-midline cleft of the upper lip, Downslanted palpeb... |
ORPHA:2075 |
| Acro-Renal-Ocular Syndrome |
|
Cataract, Microcornea, Short palpebral fissure, Conductive hearing impairment, Chorioretinal colo... |
ORPHA:959 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:99880 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Kyphosis, Delayed patellar ossification, Malar flattening, Joint hypermobility, Delayed phalangea... |
OMIM:603546 |
| Papillorenal Syndrome |
|
Cataract, Macular degeneration, Lens luxation, Optic disc coloboma, Retinal coloboma, Chorioretin... |
OMIM:120330 |
| Fructose Intolerance, Hereditary |
|
Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia, Bicarbonaturia |
OMIM:229600 |
| Weismann-Netter Syndrome |
|
Kyphosis, Abnormal cortical bone morphology, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3344 |
| Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
| Cohen-Gibson Syndrome |
|
Low-set ears, Cataract, Osteopenia, Retrognathia, Downslanted palpebral fissures, Long ear, Joint... |
OMIM:617561 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Cataract, Corneal scarring, Narrow mouth, Oral mucosal blisters, Enamel hypoplasia, Conjunctiviti... |
OMIM:226600 |
| Parathyroid Carcinoma |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:143 |
| Alternating Hemiplegia Of Childhood |
|
Mydriasis, Downturned corners of mouth, Thin eyebrow, Exaggerated cupid's bow, Tremor, Abnormal a... |
ORPHA:2131 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Renal hypophosphatemia, Hypophosphatemic rickets, Tooth abscess |
ORPHA:289176 |
| Full Nf2-Related Schwannomatosis |
|
Hyperesthesia, Posterior subcapsular cataract, Abnormal optic nerve morphology, Somatic sensory d... |
ORPHA:637 |
| Juvenile Glaucoma |
|
Abnormality iris morphology, Abnormal anterior chamber morphology, Increased cup-to-disc ratio, O... |
ORPHA:98977 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Cataract, Bifid uvula, Dental crowding, Delayed eruption of teeth, Conductive hearing impairment,... |
OMIM:300990 |
| Arachnoid Cyst |
|
Mydriasis, Sciatica, Cranial nerve compression, Ptosis, Facial palsy, Back pain |
ORPHA:2356 |
| W Syndrome |
|
Upper lip pit, Broad uvula, Downslanted palpebral fissures, Telecanthus, Submucous cleft hard pal... |
ORPHA:2804 |
| Lymphedema-Distichiasis Syndrome |
|
Cataract, Distichiasis, Ptosis, Ectropion, Conjunctivitis, Corneal erosion |
ORPHA:33001 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Low-set ears, Hypoalbuminemia, Long philtrum, Hypocholesterolemia, Short neck, Wide mouth, Kyphosis |
OMIM:608776 |
| Fliedner-Zweier Syndrome |
|
Long philtrum, Joint hypermobility, Epicanthus, High palate, Scoliosis, Kyphosis |
OMIM:620511 |
| Dent Disease |
|
Renal hypophosphatemia, Elevated circulating creatine kinase concentration |
ORPHA:1652 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Knee flexion contracture, Thoracic scoliosis, Long palpebral fissure, Ptosis, Kyphosis |
OMIM:603387 |
| Odontoonychodermal Dysplasia |
|
Sparse eyebrow, Smooth tongue, Widely spaced primary teeth, Agenesis of permanent teeth, Abnormal... |
OMIM:257980 |
| Mgat2-Cdg |
|
Osteopenia, Dental crowding, Prominent antihelix, Abnormal earlobe morphology, Downslanted palpeb... |
ORPHA:79329 |
| Ramon Syndrome |
|
Delayed eruption of teeth, Hearing impairment, Axenfeld anomaly, Juvenile rheumatoid arthritis, O... |
OMIM:266270 |
| Mosaic Trisomy 20 |
|
Craniofacial asymmetry, Cleft lip, Retrognathia, Hearing impairment, Spinal canal stenosis, Micro... |
ORPHA:1724 |
| Cockayne Syndrome |
|
Lentiglobus, Carious teeth, Action tremor, Delayed eruption of primary teeth, Optic disc pallor, ... |
ORPHA:191 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Hearing impairment, Intervertebral space narrowing, Narrow vertebral interpedicular distance, Sho... |
OMIM:143095 |
| Cockayne Syndrome Type 3 |
|
Lentiglobus, Cataract, Microcornea, Carious teeth, Conductive hearing impairment, Abnormality of ... |
ORPHA:90324 |
| Knobloch Syndrome |
|
Cataract, Macular degeneration, Ectopia lentis, Vitreoretinopathy, Abnormal vitreous humor morpho... |
ORPHA:1571 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Optic atrophy, Contractures of the large joints, Long philtrum, Low-set, posteriorly rotated ears... |
ORPHA:521426 |
| Amyloidosis, Finnish Type |
|
Cataract, Optic neuropathy, Lattice corneal dystrophy |
OMIM:105120 |
| Superficial Siderosis |
|
Abnormality of the vestibulocochlear nerve, Abnormality of the brachial nerve plexus, Bilateral s... |
ORPHA:247245 |
| X-Linked Hypophosphatemia |
|
Tooth abscess, Hypophosphatemia |
ORPHA:89936 |
| Alexander Disease |
|
Osteopenia, Tremor, Short neck, Ptosis, Hyperlordosis, Abnormal autonomic nervous system physiolo... |
ORPHA:58 |
| Schwannomatosis, Vestibular |
|
Cataract, Posterior subcapsular cataract, Epiretinal membrane, Lisch nodules, Juvenile posterior ... |
OMIM:101000 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal form of the vertebral bodies, Long philtrum, Camptodactyly of finger, Low-set, posterior... |
ORPHA:2311 |
| Pituitary Apoplexy |
|
Hyponatremia, Mydriasis, Ptosis |
ORPHA:95613 |
| Cutis Marmorata Telangiectatica Congenita |
|
Leukocoria |
OMIM:219250 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia |
ORPHA:73224 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Hearing impairment, Chorioretinal coloboma, Ankyloglossia, Hyperbilirubinemia, Hypsarrhythmia, To... |
OMIM:619475 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Hearing impairment, Sensorineural hearing impairment, Ptosis, Facial palsy, Scoliosis, Tongue atr... |
OMIM:211530 |
| Spondyloocular Syndrome |
|
Platyspondyly, Cataract, Posterior subcapsular cataract, Abnormality of the dentition, Low-set ea... |
OMIM:605822 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Mydriasis |
OMIM:619365 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Micrognathia, Kyphosis, Sacral dimple |
OMIM:618272 |
| Achondroplasia |
|
Thoracolumbar kyphosis, Hip joint hypermobility, Hearing impairment, Cervical spinal canal stenos... |
ORPHA:15 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hypoalbuminemia, Osteopenia, Hypocholesterolemia, Intention tremor, Almond-shaped palpebral fissu... |
OMIM:212065 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Aganglionic megacolon, Narrow mouth, Kyphosis, Hyperuricemia |
ORPHA:261222 |
| Alkaptonuria |
|
Limited hip movement, Brown pigmentation of the conjunctiva, Intervertebral disk degeneration, Lo... |
OMIM:203500 |
| Serotonin Syndrome |
|
Mydriasis, Abnormality of the autonomic nervous system, Tremor |
ORPHA:43116 |
| Thanatophoric Dysplasia Type 2 |
|
Platyspondyly, Limitation of joint mobility, Hearing impairment, Joint hypermobility, Kyphosis |
ORPHA:93274 |
| Orofaciodigital Syndrome Iii |
|
Low-set ears, Bifid uvula, Tongue nodules, Microdontia, Bifid tongue, Supernumerary tooth, Kyphosis |
OMIM:258850 |
| Multiple System Atrophy 1, Susceptibility To |
|
Tremor, Iris atrophy, Ptosis, Orthostatic hypotension, Abnormal autonomic nervous system physiology |
OMIM:146500 |
| Renpenning Syndrome 1 |
|
Joint contracture of the hand, Hearing impairment, Micrognathia, Narrow mouth, Epicanthus, High p... |
OMIM:309500 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Cataract, Optic atrophy, Osteopenia, Micrognathia, Hypocalcemia, Hypokalemia, Hyponatremia, Calci... |
OMIM:617913 |
| Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul... |
OMIM:241150 |
| Primrose Syndrome |
|
Hearing impairment, Narrow mouth, Hip contracture, Epicanthus, Torus palatinus, High palate, Macr... |
OMIM:259050 |
| Tooth Agenesis, Selective, X-Linked, 1 |
|
Aplasia of the maxilla, Selective tooth agenesis, Tooth agenesis, Agenesis of molar, Agenesis of ... |
OMIM:313500 |
| Infantile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De... |
ORPHA:206436 |
| Malignant Hyperthermia Of Anesthesia |
|
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise |
ORPHA:423 |
| Holoprosencephaly 7 |
|
Panhypopituitarism, Partial agenesis of the corpus callosum, Fusion of the left and right thalami... |
OMIM:610828 |
| Alstrom Syndrome |
|
Abnormality of the dentition, Progressive sensorineural hearing impairment, Decreased HDL cholest... |
OMIM:203800 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Low-set ears, Sparse eyebrow, Mandibular prognathia, Downslanted palpebral fissures, Upslanted pa... |
OMIM:617011 |
| Alport Syndrome 2, Autosomal Recessive |
|
Cataract, Anterior lenticonus, Corneal erosion |
OMIM:203780 |
| Ellis Van Creveld Syndrome |
|
Abnormal oral mucosa morphology, Abnormality of the dentition, Synostosis of carpal bones, Delaye... |
ORPHA:289 |
| Nephronophthisis 11 |
|
Anisocoria |
OMIM:613550 |
| Aortic Aneurysm, Familial Thoracic 6 |
|
Iris flocculi |
OMIM:611788 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hearing impairment, Recurrent otitis media, Open mouth, Epicanthus, Blepharophimosis, Everted low... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Hearing impairment, Recurrent otitis media, Open mouth, Epicanthus, Blepharophimosis, Everted low... |
ORPHA:363958 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hyperphosphatemia, Decreased growth hormone responses to growth hormone-releasing hormone challenge |
OMIM:101800 |
| Revesz Syndrome |
|
Leukocoria, Oral leukoplakia, Megalocornea |
OMIM:268130 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cataract, Sparse eyebrow, Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Conductive h... |
ORPHA:306542 |
| Late-Onset Retinal Degeneration |
|
Choroidal neovascularization, Abnormal anterior eye segment morphology, Peripapillary atrophy, Ch... |
ORPHA:67042 |
| Rett Syndrome |
|
Abnormality of the dentition, EEG abnormality, Dystonia, Scoliosis, Kyphosis |
OMIM:312750 |
| Cardiofacioneurodevelopmental Syndrome |
|
Cleft lip, Micrognathia, Upslanted palpebral fissure, Protruding ear, Camptodactyly, Kyphosis, Cl... |
OMIM:619123 |
| Williams Syndrome |
|
Synostosis of joints, Carious teeth, Megalocornea, Open bite, Micrognathia, Sensorineural hearing... |
ORPHA:904 |
| Dyggve-Melchior-Clausen Disease |
|
Platyspondyly, Hypoplastic facial bones, Mandibular prognathia, Hypoplasia of the odontoid proces... |
OMIM:223800 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormality of the diencephalon |
ORPHA:2165 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Highly arched eyebrow, Short palpebral fissure, Dental crowding, Long eyelashes, Micrognathia, EE... |
OMIM:619005 |
| Neonatal Marfan Syndrome |
|
High, narrow palate, Low-set ears, Crumpled ear, Ectopia lentis, Downslanted palpebral fissures, ... |
ORPHA:284979 |
| Holoprosencephaly 9 |
|
Hypoplasia of the premaxilla, Underdeveloped tragus, Bilateral cleft palate, Epicanthus, Short ne... |
OMIM:610829 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Cervical spinal canal stenosis, Long ... |
ORPHA:508533 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Hyperlordosis, Torticollis, Facial palsy, Scoliosis, Kyphosis |
OMIM:181405 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Low-set ears, Micrognathia, Sensorineural hearing impairment, Epicanthus, Short neck, Sutural cat... |
OMIM:612474 |
| Botulism |
|
Mydriasis |
ORPHA:1267 |
| Tooth Agenesis, Selective, 4 |
|
Sparse eyebrow, Tooth agenesis, Peg-shaped maxillary lateral incisors, Agenesis of permanent teet... |
OMIM:150400 |
| Pelger-Huet Anomaly |
|
Abnormality of the dentition, Recurrent otitis media, Gingival overgrowth, Median cleft palate, K... |
OMIM:169400 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Macular edema, Abnormal retinal vascular morphology, Retinal neovascularization, Retinal cotton w... |
ORPHA:247691 |
| Autosomal Recessive Ataxia, Beauce Type |
|
Arm dystonia, Ptosis, Scoliosis, Kyphosis |
ORPHA:88644 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Cataract, Absent tragus, Cleft lip, Dental malocclusion, Atresia of the external auditory canal, ... |
OMIM:603457 |
| Campomelic Dysplasia |
|
Low-set ears, Hearing impairment, Tracheomalacia, Micrognathia, Recurrent fractures, Short neck, ... |
ORPHA:140 |
| Prader-Willi Syndrome |
|
Osteopenia, Carious teeth, Downturned corners of mouth, Upslanted palpebral fissure, Almond-shape... |
OMIM:176270 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Anemia, Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia |
ORPHA:93325 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Chorioretinal hypopigmentation, Osteopenia, Downturned corners of mouth, Almond-shaped palpebral ... |
ORPHA:398069 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Biconcave vertebral bodies, Hypokalemia, Osteoporosis, Vertebral compression fracture, Kyphosis |
OMIM:219090 |
| Marden-Walker Syndrome |
|
Low-set ears, Bifid uvula, Short palpebral fissure, Arthrogryposis multiplex congenita, Abnormal ... |
ORPHA:2461 |
| Marfan Syndrome |
|
Cataract, Microspherophakia, Narrow palate, Ectopia lentis, Dental crowding, Retrognathia, Hypopl... |
OMIM:154700 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Sparse eyebrow, Limitation of joint mobility, Downslanted palpebral fissures, Low-set, posteriorl... |
ORPHA:457359 |
| Scalp-Ear-Nipple Syndrome |
|
Cataract, Abnormality of the dentition, Delayed eruption of teeth, Underdeveloped tragus, Telecan... |
ORPHA:2036 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Low-set ears, Optic atrophy, Contractures of the large joints, Long philtrum, Micrognathia, Tente... |
OMIM:617527 |
| Weaver Syndrome |
|
Mandibular prognathia, Joint contracture of the hand, Retrognathia, Long philtrum, Downslanted pa... |
OMIM:277590 |
| Progeroid Short Stature With Pigmented Nevi |
|
Cataract, High-frequency hearing impairment, Allergic conjunctivitis, Irregular dentition, Thorac... |
OMIM:176690 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal vertebral morphology, Abnormal nasolacrimal system morphology, Absent eyebrow, Macrotia,... |
ORPHA:2273 |
| Branchiooculofacial Syndrome |
|
Low-set ears, Hearing impairment, Micrognathia, Sensorineural hearing impairment, Short neck, Iri... |
OMIM:113620 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Sparse eyebrow, Hearing impairment, Abnormal eyebrow morphology, Lumbar hyperlordosis... |
ORPHA:2232 |
| Monosomy 13Q14 |
|
Low-set ears, Cataract, Micrognathia, Protruding ear, Epicanthus, Short neck, Ptosis, Thickened h... |
ORPHA:1587 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Low-set ears, Cataract, Retrognathia, Downslanted palpebral fissures, Kyphoscoliosis, Protruding ... |
OMIM:617403 |
| Mednik Syndrome |
|
Cataract, Upslanted palpebral fissure, Neonatal death |
OMIM:609313 |
| Zttk Syndrome |
|
Low-set ears, Narrow mouth, Epicanthus, High palate, Sparse eyebrow, Hypoplasia of the maxilla, D... |
OMIM:617140 |
| Adult Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, EEG abnormality |
ORPHA:206448 |
| Coffin-Lowry Syndrome |
|
Highly arched eyebrow, Narrow palate, Mandibular prognathia, Dental malocclusion, Hearing impairm... |
OMIM:303600 |
| Cowden Syndrome |
|
Cataract, Hearing impairment, Furrowed tongue, Bone cyst, Conjunctival hamartoma, Macroglossia, H... |
ORPHA:201 |
| Multiple Endocrine Neoplasia, Type Iib |
|
High, narrow palate, Thick lower lip vermilion, Thick eyebrow, Joint hypermobility, Aganglionic m... |
OMIM:162300 |
| Microphthalmia, Syndromic 1 |
|
Low-set ears, Tooth malposition, Joint contracture of the hand, Hearing impairment, Chorioretinal... |
OMIM:309800 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteoporosis, Osteopenia, Kyphosis |
OMIM:219080 |
| Alstrƶm Syndrome |
|
Cataract, Posterior subcapsular cataract, Progressive sensorineural hearing impairment, Tooth age... |
ORPHA:64 |
| Gm1-Gangliosidosis, Type I |
|
Joint stiffness, Gingival overgrowth, Hypoplastic vertebral bodies, Short neck, Beaking of verteb... |
OMIM:230500 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteoporosis, Osteopenia, Kyphosis |
OMIM:610475 |
| Mucolipidosis Type Ii |
|
Conductive hearing impairment, Limitation of joint mobility, Limited wrist movement, Decreased mo... |
ORPHA:576 |
| Brachyolmia Type 3 |
|
Platyspondyly, Short neck, Scoliosis, Kyphosis |
OMIM:113500 |
| X-Linked Intellectual Disability, Armfield Type |
|
Cataract, Mandibular prognathia, Downturned corners of mouth, Downslanted palpebral fissures, Lon... |
ORPHA:85276 |
| Rett Syndrome, Congenital Variant |
|
Thin upper lip vermilion, Protruding ear, EEG abnormality, Dystonia, Athetosis, Scoliosis, Kyphosis |
OMIM:613454 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
High, narrow palate, Dental crowding, Synostosis of the proximal phalanx of the thumb with the 1s... |
OMIM:300967 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hyperphosphatemia, Elevated circulating creatinine concentration, Leukocytosis, Thrombocytopenia,... |
ORPHA:340 |
| Camurati-Engelmann Disease |
|
Optic atrophy, Carious teeth, Craniofacial osteosclerosis, Abnormality of the vertebral column, D... |
ORPHA:1328 |
| Neurofibromatosis Type 1 |
|
Cataract, Osteopenia, Hearing impairment, Chorioretinal coloboma, Joint stiffness, Recurrent frac... |
ORPHA:636 |
| Retinoblastoma |
|
Hypopyon, Heterochromia iridis, Leukocoria, Cleft palate, Uveitis |
ORPHA:790 |
| Spondyloperipheral Dysplasia |
|
Platyspondyly, Limited elbow extension, Malar flattening, Sensorineural hearing impairment, Short... |
OMIM:271700 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Interhypothalamic adhesion, Agenesis of corpus callosum |
OMIM:618929 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Hip osteoarthritis, Sacroiliac arthritis, Back pain, Oligoarthritis, Enthesitis, Kyphosis, Anteri... |
OMIM:106300 |
| Occipital Horn Syndrome |
|
Platyspondyly, Long philtrum, Decreased circulating ceruloplasmin concentration, Limited elbow ex... |
OMIM:304150 |
| Becker Nevus Syndrome |
|
Spina bifida occulta, Scoliosis, Kyphosis |
ORPHA:64755 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
High, narrow palate, Scoliosis, Abnormality iris morphology, Retrognathia |
ORPHA:91387 |
| Thanatophoric Dysplasia Type 1 |
|
Platyspondyly, Hearing impairment, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis |
ORPHA:1860 |
| Neurocardiofaciodigital Syndrome |
|
Cataract, Sparse eyebrow, Retrognathia, Hearing impairment, Narrow palpebral fissure, Sclerocorne... |
OMIM:619869 |
| Duplication Of The Pituitary Gland |
|
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology, Agenesis of corpus callosum |
ORPHA:314621 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Optic atrophy, Micrognathia, Intention tremor, Knee flexion contracture, Absent uvula, Head titub... |
OMIM:619708 |
| Blau Syndrome |
|
Cataract, Nongranulomatous uveitis, Band keratopathy, Flexion contracture of toe, Camptodactyly o... |
OMIM:186580 |
| Exercise-Induced Malignant Hyperthermia |
|
Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytop... |
ORPHA:466650 |
| Coffin-Siris Syndrome 1 |
|
Low-set ears, Hearing impairment, High palate, Abnormal pinna morphology, Downslanted palpebral f... |
OMIM:135900 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Cataract, Retrognathia, Hearing impairment, Widely spaced teeth, Cleft soft palate, Astigmatism, ... |
ORPHA:268261 |
| Aspartylglucosaminuria |
|
Platyspondyly, Cataract, Spondylolysis, Thick lower lip vermilion, Pathologic fracture, Wide mout... |
OMIM:208400 |
| 1P36 Deletion Syndrome |
|
Cataract, Optic atrophy, Horizontal eyebrow, Conductive hearing impairment, Long philtrum, Spinal... |
ORPHA:1606 |
| Craniopharyngioma |
|
Increased circulating prolactin concentration, Hypopituitarism, Abnormal hypothalamus morphology,... |
ORPHA:54595 |
| Wrinkly Skin Syndrome |
|
Low-set ears, Osteopenia, Carious teeth, Microretrognathia, Delayed eruption of teeth, Long philt... |
OMIM:278250 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Joint hypermobility, Hyperlordosis, Scoliosis, Kyphosis, Hyperextensibility of the finger joints |
OMIM:617821 |
| Scorpion Envenomation |
|
Mydriasis, Tremor, Hypokalemia, Increased circulating creatine kinase MB isoform, Increased circu... |
ORPHA:466677 |
| Cocaine Intoxication |
|
Mydriasis, Tremor, Elevated circulating creatine kinase concentration |
ORPHA:90068 |
| Holt-Oram Syndrome |
|
Radioulnar synostosis, Joint stiffness, Scoliosis, Kyphosis |
ORPHA:392 |
| Occipital Horn Syndrome |
|
Platyspondyly, High, narrow palate, Synostosis of joints, Osteopenia, Rickets, Long philtrum, Dow... |
ORPHA:198 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteoporosis, Osteopenia, Kyphosis |
OMIM:610489 |
| Proteus Syndrome |
|
Low-set ears, Carious teeth, Chorioretinal coloboma, Open mouth, Calvarial hyperostosis, Macrotia... |
ORPHA:744 |
| Isolated Cleft Lip |
|
Conductive hearing impairment, Velopharyngeal insufficiency, Supernumerary maxillary incisor, Mac... |
ORPHA:199302 |
| Sotos Syndrome |
|
Abnormal vertebral morphology, Hearing impairment, Hip contracture, Chronic otitis media, Sacroco... |
ORPHA:821 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ankle flexion contracture, Astigmatism, Protruding ear, Abnormality of the cervical spine, Flexio... |
ORPHA:464311 |
| Neurooculorenal Syndrome |
|
Highly arched eyebrow, Micrognathia, Sensorineural hearing impairment, Iris atrophy, Mixed hearin... |
OMIM:620305 |
| Spondyloenchondrodysplasia |
|
Platyspondyly, Dental malocclusion, Delayed eruption of teeth, Arthritis, Juvenile rheumatoid art... |
ORPHA:1855 |
| Collagenoma, Familial Cutaneous |
|
Sensorineural hearing impairment, Iris atrophy |
OMIM:115250 |
| Retinoblastoma |
|
Leukocoria, Cleft palate |
OMIM:180200 |
| Trichothiodystrophy 2, Photosensitive |
|
Agenesis of maxillary lateral incisor |
OMIM:616390 |
| Microphthalmia, Syndromic 2 |
|
Microcornea, Umbilical hernia, Contracture of the proximal interphalangeal joint of the 2nd toe, ... |
OMIM:300166 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Platyspondyly, Thoracolumbar kyphosis, Thoracic platyspondyly, Limited elbow extension, Knee flex... |
OMIM:618019 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Posterior uveitis, Cataract, Choroidal neovascularization, Chorioretinal scar, Posterior synechia... |
ORPHA:91500 |
| Retinitis Pigmentosa 97 |
|
Iris atrophy |
OMIM:620422 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Astigmatism, Multiple joint contractures, Protruding ear, Abnormality of the cervical spine, Corn... |
ORPHA:464306 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Short hard palate, Ptosis, Scoliosis, Kyphosis |
ORPHA:1969 |
| Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Platyspondyly, Hearing impairment, Recurrent otitis media, Lumbar hyperlordosis, Kyphosis |
OMIM:616482 |
| Smooth Muscle Dysfunction Syndrome |
|
Mydriasis |
OMIM:613834 |
| Chand Syndrome |
|
Ankyloblepharon, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Bifid tongue, Ag... |
ORPHA:1401 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Flexion contracture, Scoliosis, Kyphosis, Hearing impairment |
ORPHA:500055 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
High, narrow palate, Abnormality of the dentition, Low-set ears, Osteopenia, Retrognathia, Hearin... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
High, narrow palate, Abnormality of the dentition, Low-set ears, Osteopenia, Retrognathia, Hearin... |
ORPHA:99228 |
| Monosomy X |
|
High, narrow palate, Abnormality of the dentition, Low-set ears, Osteopenia, Retrognathia, Hearin... |
ORPHA:99226 |
| Turner Syndrome |
|
High, narrow palate, Abnormality of the dentition, Low-set ears, Osteopenia, Retrognathia, Hearin... |
ORPHA:881 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
High, narrow palate, High palate, Scoliosis, Kyphosis |
OMIM:177850 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Conical incisor |
OMIM:300291 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Mydriasis, Sensorineural hearing impairment |
OMIM:619351 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Kyphosis, Widely spaced teeth |
OMIM:300942 |
| Yunis-Varon Syndrome |
|
Low-set ears, Micrognathia, Anterior concavity of thoracic vertebrae, Sparse eyelashes, Sensorine... |
OMIM:216340 |
| Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity |
ORPHA:1980 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Low-set ears, Bifid uvula, Microretrognathia, Agenesis of mandibular central incisor, Cleft mandi... |
OMIM:268305 |
| Cono-Spondylar Dysplasia |
|
Low-set ears, Short neck, Scoliosis, Kyphosis |
ORPHA:420794 |
| Shprintzen Omphalocele Syndrome |
|
Lumbar hyperlordosis, Epicanthus, Thin vermilion border, Scoliosis, Kyphosis |
OMIM:182210 |
| Acromegaly |
|
Broad jaw, Abnormality of the dentition, Macroglossia, Spinal canal stenosis, Thick lower lip ver... |
ORPHA:963 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Hypothalamic atrophy, Lateral ventricle dilatation |
ORPHA:2822 |
| Plague |
|
Mydriasis, Hearing impairment, Chapped lip, Conjunctival hyperemia, Arthritis, Glossitis |
ORPHA:707 |
| Somatomammotropinoma |
|
Broad jaw, Abnormality of the dentition, Macroglossia, Spinal canal stenosis, Thick lower lip ver... |
ORPHA:314769 |
| Cerebrocostomandibular Syndrome |
|
Conductive hearing impairment, Atresia of the external auditory canal, Tracheomalacia, Micrognath... |
ORPHA:1393 |
| 17Q11 Microdeletion Syndrome |
|
Low-set ears, Osteopenia, Abnormality of the vertebral column, Beaking of vertebral bodies T12-L3... |
ORPHA:97685 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Dystonia, Abnormal circulating calcium concentration, Athetosis, Tremor |
OMIM:213600 |
| Triosephosphate Isomerase Deficiency |
|
Optic disc pallor, Dystonia, Kyphosis, Tremor |
OMIM:615512 |
| Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Midline central nervous system lipomas, Remnants of the hyaloi... |
OMIM:603671 |
| Poland Syndrome |
|
Reduced bone mineral density, Vertebral segmentation defect, Short neck, Finger symphalangism, He... |
ORPHA:2911 |
| Amoebiasis Due To Free-Living Amoebae |
|
Abnormal hypothalamus morphology, Increased red blood cell count, Granuloma |
ORPHA:68 |
| Intellectual Developmental Disorder, X-Linked 112 |
|
Cupped ear, Joint hypermobility, Kyphoscoliosis, Scoliosis, Kyphosis |
OMIM:301111 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Kyphosis, Scoliosis, Astigmatism |
OMIM:619482 |
| Bloom Syndrome |
|
Protruding ear, Elevated hemoglobin A1c, Agenesis of maxillary lateral incisor, Malar flattening |
OMIM:210900 |
| Viss Syndrome |
|
Low-set ears, Cleft soft palate, Micrognathia, Contracture of the proximal interphalangeal joint ... |
OMIM:619472 |
| Autosomal Recessive Spastic Paraplegia Type 35 |
|
Optic atrophy, Kyphosis, Generalized dystonia |
ORPHA:171629 |
| Holoprosencephaly 2 |
|
Iris coloboma, Chorioretinal coloboma, Remnants of the hyaloid vascular system |
OMIM:157170 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Platyspondyly, Hypoplasia of the maxilla, Hypoplasia of the odontoid process, Lumbar hyperlordosi... |
OMIM:300106 |
