Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... |
ORPHA:93405 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Sensorineural hearing impairment, Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Winchester Syndrome |
|
Corneal opacity, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, General... |
OMIM:277950 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Osteochondrosis Of The Metatarsal Bone |
|
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... |
ORPHA:564003 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Pes planus, Edema of the dorsum of feet, Sclerosis of foot bone... |
ORPHA:566943 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, Facial palsy, Senso... |
ORPHA:3152 |
Hyperostosis Corticalis Generalisata |
|
Facial palsy, Generalized osteosclerosis, Sensorineural hearing impairment, Cranial hyperostosis,... |
ORPHA:3416 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... |
OMIM:118651 |
Osteosclerotic Metaphyseal Dysplasia |
|
Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Osebold-Remondini Syndrome |
|
Decreased finger mobility, Broad toe, Dysplastic distal radial epiphyses, Hypoplasia of the ulna,... |
OMIM:112910 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Optic atrophy from cranial nerve compressio... |
OMIM:239100 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
Galactosialidosis |
|
Corneal opacity, Hearing impairment |
ORPHA:351 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
Buschke-Ollendorff Syndrome |
|
Osteopoikilosis, Flexion contracture, Lower limb asymmetry, Joint stiffness |
OMIM:166700 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... |
OMIM:256450 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Facial palsy, Generalized osteosclerosis, Sensorineural hearing impair... |
ORPHA:2790 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Cataract, Joint stiffness, Osteoporosis, Increased bone density w... |
OMIM:136300 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density, Pedal edema |
ORPHA:75325 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Corneal opacity, Reduced bone mineral density, Abnormal pelvic... |
ORPHA:2370 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset trunc... |
ORPHA:71529 |
Ophthalmomandibulomelic Dysplasia |
|
Corneal opacity, Camptodactyly of finger, Micromelia, Limitation of joint mobility, Lateral humer... |
ORPHA:2741 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
Type 2 Diabetes Mellitus |
|
Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Isolated Osteopoikilosis |
|
Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m... |
ORPHA:166119 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Corneal Dystrophy And Perceptive Deafness |
|
Sensorineural hearing impairment, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Weill-Marchesani Syndrome 4 |
|
Iridodonesis, Ectopia lentis, Joint stiffness, Shallow anterior chamber, Posterior synechiae of t... |
OMIM:613195 |
Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... |
ORPHA:1879 |
Osteopetrosis, Autosomal Recessive 6 |
|
Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero... |
OMIM:611497 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypo... |
OMIM:601820 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... |
OMIM:249700 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... |
OMIM:604229 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Cataract 21, Multiple Types |
|
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... |
OMIM:610202 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Facial palsy, Craniosynostosis, Optic atrophy, Hearing impairment |
ORPHA:178377 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb... |
ORPHA:90650 |
Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... |
ORPHA:98960 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... |
OMIM:600955 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Sensorineural hearing impairment, Rickets, Hypo... |
OMIM:241520 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ... |
ORPHA:293964 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Mietens Syndrome |
|
Hypoplasia of the ulna, Cataract, Corneal opacity, Talipes, Sclerocornea, Joint stiffness, Metata... |
ORPHA:2557 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... |
OMIM:617885 |
Eiken Syndrome |
|
Short palm, Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal acetabulum morph... |
ORPHA:79106 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia |
ORPHA:329249 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Conductive hea... |
OMIM:607634 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
Corneal Dystrophy, Epithelial Basement Membrane |
|
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions |
OMIM:121820 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Limitation... |
ORPHA:3329 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... |
ORPHA:171706 |
Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Talipes equinovarus, Facial palsy, Abnormal auditory e... |
OMIM:601382 |
Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions |
OMIM:217800 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity |
ORPHA:2432 |
Mesomelic Dysplasia, Savarirayan Type |
|
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... |
OMIM:605274 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholestero... |
OMIM:232700 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Mucolipidosis Type Iii |
|
Craniofacial hyperostosis, Corneal opacity, Joint stiffness, Reduced bone mineral density, Abnorm... |
ORPHA:577 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, Chorioretinal colobom... |
ORPHA:1473 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Ulnar deviated club hands, Fibular hypoplasia, Lateral humeral condyle... |
OMIM:164900 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... |
ORPHA:98973 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract |
OMIM:616722 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Facial palsy, Mandibular osteomyelitis, Fractures of the long bones, General... |
OMIM:166600 |
Mody |
|
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... |
ORPHA:552 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... |
OMIM:606762 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Cataract, Posteriorly rotated ears, Micrognathia, Congenital sens... |
OMIM:617306 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Papilledema, Cortical sclerosis, Craniofacial osteosclerosis, Optic at... |
OMIM:122860 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Sensorineural hearing impairment, Iris cyst, Optic atrophy |
OMIM:620086 |
Ring Dermoid Of Cornea |
|
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Hypertriglyceridemia, Impaired glucose tolerance, Type II diabetes mellitus |
OMIM:610947 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Stickler Syndrome Type 2 |
|
Sensorineural hearing impairment, Cataract, Corneal opacity |
ORPHA:90654 |
Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Generalized osteosclerosis, Short long bone, Flared elbow metaphyses, L... |
ORPHA:1423 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Sensorineural hearing impairment, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpa... |
OMIM:144750 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Limb undergrowth, Increased bone mineral density, Abnormal cortical bone morphology, Abnormal lim... |
ORPHA:2204 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:608470 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Ulnar deviation of the hand, Corneal opacity, Ankle swelling, Micrognathia, Osteolysi... |
OMIM:166300 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Tarsal synostosis, Duplication of thumb phalanx, Micrognathia, Shor... |
ORPHA:2756 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... |
OMIM:600785 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Lower limb asymmetry, Hyperostosis, Arthritis, E... |
ORPHA:2485 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... |
OMIM:612576 |
Diastrophic Dysplasia |
|
Low-set, posteriorly rotated ears, Increased bone mineral density, Bowing of the long bones, Camp... |
ORPHA:628 |
Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypopituitarism, Hypertriglyceridemia |
OMIM:145750 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
Brachyolmia Type 1, Toledo Type |
|
Broad tibial metaphyses, Precocious costochondral ossification, Short femoral neck, Opacification... |
OMIM:271630 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Cranial nerve... |
ORPHA:210110 |
Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Recurrent fractures, Sclerocornea, Keratoglobus, Decreased corneal thic... |
OMIM:614170 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
Glaucoma, Primary Closed-Angle |
|
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio |
OMIM:618880 |
Al-Gazali Syndrome |
|
Osteopenia, Proximal radio-ulnar synostosis, Corneal opacity, Recurrent fractures, Sclerocornea, ... |
OMIM:609465 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Anis... |
ORPHA:263479 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Albers-Schönberg Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Facial palsy, Mandibular osteomyelitis, Generalized osteoscle... |
ORPHA:53 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity |
ORPHA:1980 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Posteriorly rotated ears, Overlapping toe, Micrognathia, Fibular hypoplasia, Ta... |
OMIM:201170 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Blount Disease |
|
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... |
ORPHA:2768 |
Bartsocas-Papas Syndrome 2 |
|
2-5 finger cutaneous syndactyly, Corneal opacity, Micrognathia, Small hand, Antecubital pterygium... |
OMIM:619339 |
Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Facial palsy, Sensorineural hearing impairment, Osteopetrosis, Conduct... |
ORPHA:1522 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anterior chambe... |
OMIM:221900 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Joint laxity, Crumpled long bones, Corneal opacity, Metaphyseal widening, Osteoporosi... |
ORPHA:2788 |
Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi... |
ORPHA:324575 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
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Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Cupped ear, Hand monodacty... |
OMIM:119100 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Optic disc pallor, Abnormal pinna morphology, Band keratopathy, Hypoplasia of the iris, Anterior ... |
OMIM:614195 |
Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Micrognathia, Hypoplasia of the iris, Anterior synechiae ... |
ORPHA:96125 |
Deafness, Autosomal Recessive 108 |
|
Congenital sensorineural hearing impairment, Iris coloboma |
OMIM:617654 |
Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Cataract, Micrognathia, Coxa valga, Flat acetabular roof, Flatten... |
ORPHA:163649 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
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Brachydactyly, Corneal opacity, Metaphyseal widening, Squared iliac bones, Short long bone, Short... |
OMIM:618961 |
Slc35A2-Cdg |
|
Osteopenia, Limb joint contracture, Camptodactyly of finger, Craniosynostosis, Coxa valga, Metata... |
ORPHA:356961 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
EEG abnormality, Flexion contracture, Corneal opacity, Developmental cataract |
OMIM:618815 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
2Q24 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Cataract, Toe syndactyly, Camptodactyly of finger, Long finger... |
ORPHA:1617 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Hypoglycemia, Anterior pituitary hypoplasia, Decreased circulating... |
ORPHA:453533 |
Stuve-Wiedemann Syndrome 1 |
|
Micrognathia, Knee flexion contracture, Femoral bowing, Tibial bowing, Short tibia, Short phalanx... |
OMIM:601559 |
Chondrodysplasia, Blomstrand Type |
|
Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv... |
OMIM:215045 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Sensorineural hearing impairment, Hypoplasia of the iris, Ectopia pupillae, Posterior synechiae o... |
OMIM:602482 |
Familial Tumoral Calcinosis |
|
Calcification of muscles |
ORPHA:53715 |
Oculoauricular Syndrome |
|
Cataract, Short mandibular rami, Sclerocornea, Absent earlobe, Chorioretinal atrophy, Development... |
OMIM:612109 |
Spondyloepiphyseal Dysplasia Tarda |
|
Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e... |
ORPHA:93284 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity |
OMIM:618406 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis, Hearing impairment |
OMIM:167250 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral talipes equinova... |
OMIM:601356 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Excessive insulin response to glucagon test, Maternal diabetes, Large for gestational age, Hyperi... |
ORPHA:276580 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Osteopetrosis, Autosomal Recessive 1 |
|
Increased bone mineral density, Osteomyelitis, Femur fracture, Facial palsy, Craniosynostosis, Op... |
OMIM:259700 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Obesity, Hypoglycemic se... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Obesity, Hypoglycemic se... |
ORPHA:71526 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma |
OMIM:148200 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Rieger anomaly, Abnormal auditory evoked potentials, Coxa valga, Sensorineural hearing impairment... |
OMIM:109120 |
Erythrokeratodermia Variabilis |
|
Brachydactyly, Cataract, Corneal opacity, Tapered finger, Patchy palmoplantar hyperkeratosis, Pro... |
ORPHA:317 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Obesity, Increased resting energy expenditure |
ORPHA:369873 |
Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Wide dist... |
OMIM:614856 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Hypoplastic vertebral b... |
OMIM:224300 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa... |
OMIM:112250 |
Alpha-Mannosidosis |
|
Craniofacial hyperostosis, Bowing of the long bones, Cataract, Corneal opacity, Macrotia, Arthrit... |
ORPHA:61 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Low-set ... |
OMIM:258860 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... |
ORPHA:320401 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Hearing impairmen... |
ORPHA:1782 |
Hurler-Scheie Syndrome |
|
Abnormal nerve conduction velocity, Sensorineural hearing impairment, Limitation of joint mobilit... |
ORPHA:93476 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
Osteopetrosis, Autosomal Recessive 9 |
|
Papilledema, Increased bone mineral density, Cortical sclerosis, Osteopetrosis, Pathologic fracture |
OMIM:620366 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Peripheral opacification of the cornea, Micrognathia, Metaphyseal widening, Metatarsa... |
OMIM:259600 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia, Hypergonadotropic hypogonadism, Male hypogonadism |
OMIM:307500 |
Sialidosis Type 2 |
|
Corneal opacity, Flexion contracture, Osteoporosis, Pedal edema, Hearing impairment |
ORPHA:87876 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... |
ORPHA:276608 |
Obesity And Hypopigmentation |
|
Hyperinsulinemia, Obesity |
OMIM:620195 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... |
OMIM:228900 |
Gómez-López-Hernández Syndrome |
|
Corneal opacity, Low-set ears |
ORPHA:1532 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
Plin1-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus at puberty, Hypertriglyceridemia, Hyperinsulinemia, Abnormal ... |
ORPHA:280356 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Increased bone mineral density, Diaphyseal dysplasia, Hyperostosis cranialis interna |
OMIM:231095 |
Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
Amoebic Keratitis |
|
Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri... |
ORPHA:67043 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short tibia, Ulnar bowing, Femoral bowing... |
OMIM:620076 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... |
ORPHA:85184 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Corneal opacity, Rhizomelia, Metaphy... |
ORPHA:85167 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
Caffey Disease |
|
Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo... |
OMIM:114000 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... |
ORPHA:1106 |
Osteopetrosis, Autosomal Recessive 4 |
|
Optic disc pallor, Increased bone mineral density, Facial palsy, Recurrent fractures, Optic atrop... |
OMIM:611490 |
Cysticercosis |
|
Calcification of muscles, Cerebral calcification, Abnormal skeletal muscle morphology |
ORPHA:1560 |
Norrie Disease |
|
Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, Leukocoria, Hypoplasi... |
OMIM:310600 |
Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract, Irregular tarsal ... |
OMIM:221800 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Micrognathia, Micromelia, Absent thumb, Absent radius, Humeroradial synostosis,... |
OMIM:251230 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... |
OMIM:617519 |
Bilateral Acute Depigmentation Of The Iris |
|
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... |
ORPHA:69736 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus... |
OMIM:166260 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... |
ORPHA:85170 |
Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Cataract, Sclerocornea, Proximal placement of thumb, Sensorineural hearing imp... |
ORPHA:139471 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Protruding ear, Clinodactyly of the 5th finger, Short ... |
OMIM:268305 |
Phacoanaphylactic Uveitis |
|
Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, ... |
ORPHA:209959 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Excessive insulin response to glucagon test, Large for gestational age, Hyperinsulinemia, Hypogly... |
ORPHA:276575 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Cataract, Posteriorly rotated ears, Facial palsy, Micrognathia, L... |
ORPHA:2780 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Coxa vara, Iliac crest serration, Rhizomelia, Hypoplasia of the odontoi... |
ORPHA:239 |
Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... |
OMIM:619326 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Popliteal pterygiu... |
OMIM:119800 |
Pelvis-Shoulder Dysplasia |
|
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Optic disc coloboma, Hypoplas... |
OMIM:169550 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... |
OMIM:262190 |
X-Linked Hypophosphatemia |
|
Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Enthesitis, ... |
ORPHA:89936 |
Short Syndrome |
|
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Sensorineural hearing impairme... |
ORPHA:3163 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th... |
ORPHA:2502 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia |
ORPHA:35878 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Mucolipidosis Iv |
|
Optic atrophy, Corneal opacity, Opacification of the corneal stroma |
OMIM:252650 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Joint laxity, Iris atrophy, Pes planus, Cataract, Arachnodactyly, Broad hallux, Ectopia lentis, S... |
OMIM:601552 |
Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Broad finger, Astigmatism, Abnormal auditory evoked potentials |
OMIM:617523 |
Scheie Syndrome |
|
Pes cavus, Corneal opacity, Genu valgum |
OMIM:607016 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Large for gestational age, Abnormal response t... |
ORPHA:79644 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Short palm, Abnormal vertebral segmentation and fusion, Synos... |
ORPHA:90652 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... |
ORPHA:2378 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Sensorineural hearing impairment, Microcornea, Anterior synechiae of the anterior chamber, Iris c... |
ORPHA:3214 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Corneal opacity, Talipes, Micrognathia, Aplasia/Hypoplasia of ... |
ORPHA:1234 |
Osteopetrosis, Autosomal Recessive 2 |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial nerve compression, Cranial ... |
OMIM:259710 |
Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Mixed hearing impairment, Facial palsy, Metaphyseal widening, Cranial hyperostosis, Flared metaph... |
OMIM:123000 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Se... |
OMIM:601455 |
Atelosteogenesis Type Iii |
|
Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han... |
ORPHA:56305 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hypertriglyceridemia, Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus,... |
OMIM:604367 |
Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... |
OMIM:609945 |
Omodysplasia 1 |
|
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite... |
OMIM:258315 |
Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea |
ORPHA:83461 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, Myopic astigmatism, Op... |
OMIM:152950 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... |
OMIM:613270 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Recurrent fr... |
OMIM:239000 |
Mucopolysaccharidosis, Type Ivb |
|
Joint laxity, Corneal opacity, Joint stiffness, Epiphyseal deformities of tubular bones, Hypoplas... |
OMIM:253010 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Diabetes mellitus, Hyperinsulinemia |
ORPHA:79084 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Osteomyelitis, Recurrent fractures, Rocker bottom foot, Micrognathia, Keratitis, Talipes equinova... |
ORPHA:453510 |
Harel-Yoon Syndrome |
|
Corneal opacity, Micrognathia, Talipes equinovalgus, Optic atrophy, Developmental cataract, Hip d... |
OMIM:617183 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Corneal opacity, Craniosynostosis, Micrognathia, Developmental glaucoma, Aniridia |
ORPHA:1064 |
Congenital Rubella Syndrome |
|
Cataract, Corneal opacity, Sensorineural hearing impairment, Aplasia/Hypoplasia of the iris, Abno... |
ORPHA:290 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Corneal opacity, Micromelia, Ulnar bowing, Aplasia/Hypoplasia of the radius |
ORPHA:1765 |
Multiple Sulfatase Deficiency |
|
Broad hallux phalanx, Cataract, Corneal opacity, Joint stiffness, Sensorineural hearing impairmen... |
ORPHA:585 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Rhizomelia, Abnormal pinna morphology, Sandal gap, Sensorineural hear... |
OMIM:607143 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Cataract, Short metacarpal, Rhizomelia, Aplastic clavicle, Microg... |
ORPHA:50945 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Osteoarthritis, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bow... |
OMIM:602111 |
Charcot-Marie-Tooth Disease Type 1B |
|
Decreased nerve conduction velocity, Abnormal pupil morphology, Hearing impairment |
ORPHA:101082 |
Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
Intermediate Uveitis |
|
Anterior uveitis, Posterior synechiae of the anterior chamber, Cataract, Band keratopathy |
ORPHA:279914 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Corneal degeneration, Corneal dystrophy, Corneal guttata |
OMIM:610158 |
Cutis Laxa, Autosomal Dominant 3 |
|
Osteopenia, Joint laxity, Corneal opacity, Hip dislocation, Protruding ear, Developmental catarac... |
OMIM:616603 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
Orofaciodigital Syndrome Ix |
|
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly |
OMIM:258865 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... |
ORPHA:2634 |
Oculomaxillofacial Dysostosis |
|
Corneal opacity, Camptodactyly of finger, Micrognathia, Abnormality of the humerus, Adducted thum... |
ORPHA:1794 |
Scheie Syndrome |
|
Corneal opacity, Joint stiffness, Sensorineural hearing impairment, Limitation of joint mobility,... |
ORPHA:93474 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... |
OMIM:171480 |
Mucopolysaccharidosis Type 4 |
|
Bowing of the long bones, Corneal opacity, Coxa valga, Reduced bone mineral density, Genu valgum,... |
ORPHA:582 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Corneal opacity, Talipes, Aplasia/Hypoplasia of th... |
ORPHA:1647 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Idiopathic Panuveitis |
|
Conjunctival hyperemia, Cataract, Choroidal neovascularization, Posterior synechiae of the anteri... |
ORPHA:280921 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Micrognathia, Microcornea, Conductive hearing ... |
OMIM:201000 |
Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Iridodonesis, Micrognathia, Tapered finger, Sensorineural hearing impairment, Protrud... |
ORPHA:2479 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Flexion contracture, Optic atrophy, Developmental cataract, Posterior synechiae of the anterior c... |
OMIM:613154 |
Pycnodysostosis |
|
Joint laxity, Increased bone mineral density, Rhizomelia, Micrognathia, Lower limb asymmetry, Gen... |
ORPHA:763 |
Femoral-Facial Syndrome |
|
Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Radioulnar synostosis, Microtia... |
ORPHA:1988 |
3Q29 Microduplication Syndrome |
|
Cataract, Toe syndactyly, Sandal gap, Sclerocornea, Craniosynostosis, Aniridia, Low-set ears, Cam... |
ORPHA:251038 |
Weismann-Netter Syndrome |
|
Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Calvarial hy... |
OMIM:112350 |
Galactokinase Deficiency |
|
Small for gestational age, Hypoglycemia, Hypergonadotropic hypogonadism, Hyperinsulinemia, Hyperc... |
ORPHA:79237 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ... |
OMIM:616300 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Diabetes mellitus, Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia |
OMIM:616033 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent hypoglycemia, ... |
ORPHA:276556 |
Sanjad-Sakati Syndrome |
|
Low-set, posteriorly rotated ears, Corneal opacity, Patchy osteosclerosis, Micrognathia, External... |
ORPHA:2323 |
Mucolipidosis Iii Gamma |
|
Joint stiffness, Flat capital femoral epiphysis, Genu valgum, Flared iliac wing, Opacification of... |
OMIM:252605 |
Thrombocytopenia-Absent Radius Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Tibial torsion, Micrognathia, Absent radius... |
ORPHA:3320 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Trapezoi... |
OMIM:307800 |
Camurati-Engelmann Disease |
|
Increased bone mineral density, Cranial nerve compression, Diaphyseal sclerosis, Genu valgum, Cor... |
OMIM:131300 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Limitation of joint mobility, Coxa vara, Hypoplasia of the capital femoral epiphysis, Irregular e... |
OMIM:313400 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene... |
OMIM:609441 |
Solitary Fibrous Tumor |
|
Recurrent hypoglycemia, Hypoglycemia, Hypoinsulinemia, Weight loss |
ORPHA:2126 |
Zellweger Syndrome |
|
Cataract, Corneal opacity, Abnormal chorioretinal morphology, Micrognathia, Brushfield spots, Ext... |
ORPHA:912 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Joint stiffness, Metaphyseal widening, Coxa vara, Femoral bowing, T... |
OMIM:608940 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cataract, Corneal opacity, Optic nerve hypoplasia, Micrognathia, Optic atrophy, Positional foot d... |
ORPHA:496790 |
Pseudohypoparathyroidism Type 1A |
|
Increased bone mineral density, Cataract, Short metacarpal, Short fifth metatarsal, Band keratopa... |
ORPHA:79443 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Posteriorly rotated ears, Corneal opacity, Micrognathia, Keratitis, Microtia, Conjunctivitis |
OMIM:602562 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... |
OMIM:227270 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea |
OMIM:251750 |
Ichthyosis, X-Linked |
|
Palmoplantar keratoderma, Opacification of the corneal stroma |
OMIM:308100 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Micrognathia, Generalized joint laxity, Flexion contract... |
ORPHA:536471 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy, Corneal guttata |
OMIM:615523 |
Alpha-Mannosidosis, Adult Form |
|
Osteopenia, Optic disc pallor, Mixed hearing impairment, Cataract, Corneal opacity |
ORPHA:309288 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Hypoplasia of the i... |
ORPHA:1422 |
Mucolipidosis Type Iv |
|
EEG abnormality, Genu recurvatum, Corneal opacity, Palmoplantar keratoderma |
ORPHA:578 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Sclerocornea, Microcornea, Low-set ears, Ocular anterior segment dysgenesis, Macrotia, Iris coloboma |
OMIM:615145 |
Schnitzler Syndrome |
|
Arthritis, Increased bone mineral density |
ORPHA:37748 |
Arthrogryposis, Distal, Type 2A |
|
Hip contracture, Flexion contracture of finger, Recurrent fractures, Shoulder flexion contracture... |
OMIM:193700 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... |
OMIM:274000 |
Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Hyperopic astigmatism, Craniosynostosis, Irregula... |
OMIM:252600 |
Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Corneal opacity, Short finger, Tapered finger |
ORPHA:1867 |
Retinitis Pigmentosa |
|
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Obesity |
ORPHA:791 |
Beemer-Ertbruggen Syndrome |
|
Low-set, posteriorly rotated ears, Increased bone mineral density, Micrognathia |
ORPHA:1237 |
Olmsted Syndrome 1 |
|
Autoamputation of digits, Corneal opacity, Flexion contracture, Palmoplantar keratoderma, Opacifi... |
OMIM:614594 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Postural hypotension with compensatory tachycardia, Osteomyelitis, Autoamputation of digits, Kera... |
OMIM:256800 |
Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology, Flexion contracture, Areflexia of lower limbs, Hyporeflexia of lower l... |
OMIM:160565 |
Neurotrophic Keratopathy |
|
Anterior uveitis, Abnormal fifth cranial nerve morphology, Corneal scarring, Corneal stromal edem... |
ORPHA:137596 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... |
ORPHA:1227 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Atopic Keratoconjunctivitis |
|
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization |
ORPHA:163934 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Overlapping fingers, Corneal opacity, Optic nerve hypoplasia, Craniosynostosis, Posteriorly rotat... |
OMIM:301056 |
8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Cataract, Corneal opacity, Camptodactyly of finger, Sclerocornea, Hearing impa... |
ORPHA:284160 |
Kniest Dysplasia |
|
Hip contracture, Cataract, Rhizomelia, Dumbbell-shaped long bone, Conductive hearing impairment, ... |
OMIM:156550 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Corneal opacity, Facial palsy,... |
ORPHA:570 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
Sjogren-Larsson Syndrome |
|
Flexion contracture, Astigmatism, Opacification of the corneal epithelium |
OMIM:270200 |
Sympathetic Ophthalmia |
|
Papilledema, Cataract, Anterior chamber cells, Posterior synechiae of the anterior chamber, Poste... |
ORPHA:79098 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Cataract, Abnormal auditory evoked potentials, Sensorineural hearing impairmen... |
OMIM:619260 |
Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Abnormally ossified vertebrae, Cataract, Posteriorly rotated ears, Short me... |
ORPHA:1427 |
Microphthalmia, Syndromic 16 |
|
Sclerocornea |
OMIM:611038 |
Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... |
ORPHA:98957 |
Premature Aging Syndrome, Penttinen Type |
|
Brachydactyly, Corneal opacity, Recurrent fractures, Micrognathia, Hyperextensibility of the knee... |
OMIM:601812 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Cataract, Corneal opacity, Arachnodactyly, Abnormal thumb morphology, Sensorineural hearing impai... |
ORPHA:2719 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalacia, Bowing of the le... |
OMIM:300554 |
Pseudohypoparathyroidism Type 1C |
|
Increased bone mineral density, Cataract, Short metacarpal, Short fifth metatarsal, Short metatar... |
ORPHA:79444 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Increased bone mineral density, Facial palsy, Micrognathia, Cranial hyperostos... |
OMIM:259720 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Corneal opacity, Optic disc coloboma, Chorioretinal coloboma, Peters anomaly |
OMIM:120200 |
Cleidocranial Dysplasia 1 |
|
Micrognathia, Absent frontal sinuses, Short middle phalanx of the 2nd finger, Coxa vara, Hypoplas... |
OMIM:119600 |
Gm1-Gangliosidosis, Type Iii |
|
Hypoplastic acetabulae, Flared iliac wing, Pes cavus, Opacification of the corneal stroma |
OMIM:230650 |
Sialidosis Type 1 |
|
Cataract, Corneal opacity, Decreased nerve conduction velocity, Sensorineural hearing impairment,... |
ORPHA:812 |
Gorlin-Chaudhry-Moss Syndrome |
|
Sclerocornea, Abnormal foot morphology, Astigmatism, Abnormal metacarpal morphology, Conductive h... |
ORPHA:2095 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Obesity |
ORPHA:3085 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Truncal obesity, Abdominal obesity, Type II diabetes mellitus, Hypercholest... |
OMIM:615812 |
Craniosynostosis With Fibular Aplasia |
|
Craniosynostosis, Fibular aplasia |
OMIM:218550 |
Schwartz-Jampel Syndrome |
|
Micromelia, Micrognathia, Coxa vara, Microcornea, Wrist flexion contracture, Low-set, posteriorly... |
ORPHA:800 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Sclerocornea, Micrognathia, 2-3 toe cutaneous syndactyly, Narrow foot, ... |
OMIM:600920 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Absent Achi... |
ORPHA:1215 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Abnormal pinna morphology, Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic... |
OMIM:617925 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Delayed ep... |
OMIM:600081 |
Abcd Syndrome |
|
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... |
OMIM:600501 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Corneal opacity, Recurrent fractures, Abnormal toe morphology, Abnormal finger morpho... |
OMIM:163200 |
Mosaic Trisomy 8 |
|
Corneal opacity, Camptodactyly of finger, Abnormal pinna morphology, Micrognathia, Limitation of ... |
ORPHA:96061 |
Autoimmune Hypoparathyroidism |
|
Increased bone mineral density, Cataract, Conjunctivitis |
ORPHA:36913 |
Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... |
ORPHA:2751 |
Lowry-Maclean Syndrome |
|
Osteopenia, Corneal opacity, Craniosynostosis, Micrognathia, Developmental glaucoma, Osteoporosis... |
ORPHA:2409 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Pes planus, Congenital hip dislocation, Corneal opacity, Increased susceptibility to fractures, A... |
ORPHA:357058 |
Dysostosis, Stanescu Type |
|
Increased bone mineral density, Bowing of the long bones, Micromelia, Abnormal epiphysis morpholo... |
ORPHA:1798 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Protruding ear, Microcornea, Keratoconjunctivitis sicc... |
ORPHA:1806 |
Hurler Syndrome |
|
Corneal opacity, Hypoplasia of the femoral head, Joint stiffness, Coxa valga, Hypoplasia of the o... |
OMIM:607014 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Cataract, Band keratopathy, Knee osteoarthritis, Oligoarthritis, Uveitis, Abnormality of the ankl... |
ORPHA:85410 |
Mucopolysaccharidosis Type 7 |
|
Corneal opacity, Joint stiffness, Metatarsus adductus, Epiphyseal stippling, Abnormal hip bone mo... |
ORPHA:584 |
Kenny-Caffey Syndrome, Type 2 |
|
Papilledema, Increased bone mineral density, Developmental cataract, Thickened cortex of long bon... |
OMIM:127000 |
Congenital Generalized Lipodystrophy |
|
Diabetes mellitus, Hypertriglyceridemia, Precocious puberty in females, Insulin resistance, Hyper... |
ORPHA:528 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Cataract, Pseudoepiphyses of the metacarpals, Micrognathia,... |
OMIM:618150 |
Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Abnormal circulating leptin concentration, Insulin resistance, Fastin... |
ORPHA:2298 |
Walker-Warburg Syndrome |
|
Cataract, Corneal opacity, Posteriorly rotated ears, Chorioretinal dysplasia, Optic atrophy, Prot... |
ORPHA:899 |
Pseudohypoparathyroidism Type 1B |
|
Increased bone mineral density, Cataract, Cortical subperiosteal resorption of humeral metaphyses... |
ORPHA:94089 |
Familial Dysautonomia |
|
Orthostatic hypotension, Corneal opacity, Recurrent fractures, Abnormal pupil morphology, Corneal... |
ORPHA:1764 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re... |
ORPHA:2457 |
Osteopetrosis, Autosomal Recessive 8 |
|
Facial palsy, Optic atrophy, Osteopetrosis |
OMIM:615085 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Optic disc pallor, Posterior subcapsular cataract, Abnormal corneal endothelium morphology, Chori... |
ORPHA:364055 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Posteriorly rotated ears, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous s... |
OMIM:206920 |
Frontometaphyseal Dysplasia |
|
Limited elbow movement, Micrognathia, Metaphyseal widening, Short metatarsal, Conductive hearing ... |
ORPHA:1826 |
Majeed Syndrome |
|
Increased bone mineral density, Osteomyelitis, Flexion contracture, Synovitis, Increased suscepti... |
ORPHA:77297 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Pes planus, Cataract, Rhizomelia, Sclerocornea, 2-3 toe syndactyly, Microcornea, Ectopia pupillae... |
OMIM:615877 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Micrognathia, Flexion contracture, Tibial bowing, Hypoplastic iliac wing, Small proximal tibial e... |
ORPHA:96334 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Prelingual ... |
ORPHA:52368 |
Paget Disease Of Bone 2, Early-Onset |
|
Bowing of the long bones, Short femur, Fractures of the long bones, Osteolysis, Increased suscept... |
OMIM:602080 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Corneal opacity |
OMIM:613153 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,... |
OMIM:106210 |
Larsen Syndrome |
|
Joint laxity, Vertebral fusion, Short metacarpal, Corneal opacity, Spatulate thumbs, Conductive h... |
OMIM:150250 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Increased bone mineral density, Facial palsy, Aplastic clavicle, Abnormal meta... |
ORPHA:2658 |
Brittle Cornea Syndrome |
|
Hallux valgus, Pes planus, Arachnodactyly, Corneal dystrophy, Corneal erosion, Sensorineural hear... |
ORPHA:90354 |
Werner Syndrome |
|
Increased bone mineral density, Cataract, Rocker bottom foot, Joint stiffness, Osteoporosis, Smal... |
ORPHA:902 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi... |
ORPHA:1788 |
Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma |
ORPHA:461 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Insulin resistance, Hypertriglyceridemia, Hyperinsulinemia |
ORPHA:363400 |
Neuhauser Syndrome |
|
Osteopenia, Iridodonesis, Pes planus, Genu recurvatum, Arachnodactyly, Micrognathia, Cupped ear, ... |
OMIM:249310 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
Tricho-Dento-Osseous Syndrome |
|
Finger clinodactyly, Increased bone mineral density |
ORPHA:3352 |
Rodrigues Blindness |
|
Microcornea, Sclerocornea, Protruding ear |
OMIM:268320 |
Fish-Eye Disease |
|
Corneal opacity |
ORPHA:79292 |
Focal Dermal Hypoplasia |
|
Finger syndactyly, Toe syndactyly, Corneal opacity, Camptodactyly of finger, Hearing impairment, ... |
ORPHA:2092 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Large for gestational age, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperpl... |
ORPHA:263455 |
Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic... |
ORPHA:198 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short tibia, Short femur, Talipes equinovarus |
OMIM:620306 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Generalized bone demineralization, Opacification of the corneal stroma |
OMIM:215250 |
Acromelic Frontonasal Dysostosis |
|
Syndactyly, Optic nerve hypoplasia, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hyp... |
OMIM:603671 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Micrognathia, Abnormality... |
ORPHA:3035 |
Fibrochondrogenesis 1 |
|
Short palm, Hypoplastic scapulae, Abnormal pinna morphology, Rhizomelia, Dumbbell-shaped long bon... |
OMIM:228520 |
3Mc Syndrome 3 |
|
Abnormal pinna morphology, Corneal opacity, Preaxial polydactyly, Radioulnar synostosis, Auricula... |
OMIM:248340 |
Pycnodysostosis |
|
Increased bone mineral density, Aplastic clavicle, Micrognathia, Absent frontal sinuses, Osteolyt... |
OMIM:265800 |
Desmosterolosis |
|
Low-set, posteriorly rotated ears, Increased bone mineral density, Talipes, Micromelia, Micrognat... |
ORPHA:35107 |
Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
Mucopolysaccharidosis, Type Vii |
|
Corneal opacity, Joint stiffness, Metatarsus adductus, Hypoplasia of the odontoid process, Sensor... |
OMIM:253220 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Joint laxity, Broad toe, Posteriorly rotated ears, Rocker bottom foot, Sensorineural hearing impa... |
OMIM:612582 |
Charcot-Marie-Tooth Disease Type 1E |
|
Hyporeflexia of lower limbs, Distal lower limb muscle weakness, Peroneal muscle weakness, Equinov... |
ORPHA:90658 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
Familial Renal Glucosuria |
|
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... |
ORPHA:69076 |
Congenital Sialidosis Type 2 |
|
Cataract, Corneal opacity, Optic atrophy, Developmental cataract, Polydactyly, Low-set ears, Hear... |
ORPHA:93400 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Increased skull ossification, Craniofacial osteosclerosis, Optic atrophy, Diaphyseal sclerosis, M... |
OMIM:618476 |
Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Farber Disease |
|
Abnormality of the knee, Corneal opacity, Abnormal foot morphology, Short toe, Flexion contractur... |
ORPHA:333 |
Trichothiodystrophy |
|
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Hypopl... |
ORPHA:33364 |
Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity |
ORPHA:281090 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Joint stiffness, Genu valgum, Opacification of the corneal stroma, Abnormal... |
ORPHA:583 |
Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... |
OMIM:600002 |
Dyggve-Melchior-Clausen Disease |
|
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bowing, Narrow... |
OMIM:223800 |
Cousin Syndrome |
|
Micrognathia, Prominent protruding coccyx, Microcornea, Hypoplastic iliac wing, Clinodactyly of t... |
OMIM:260660 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Cataract, Corneal opacity, Abnormality of cartilage of external ear, Cupped ear, Low-set ears, Cl... |
ORPHA:2399 |
Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Joint laxity, Mixed hearing impairment, Cataract, Corneal opacity, Optic disc pallor,... |
ORPHA:309282 |
Raine Syndrome |
|
Increased bone mineral density, Mixed hearing impairment, Posteriorly rotated ears, Abnormal pinn... |
OMIM:259775 |
Hurler-Scheie Syndrome |
|
Corneal opacity, Camptodactyly of finger, Micrognathia, Joint stiffness, Contracture of the dista... |
OMIM:607015 |
Cerebrotendinous Xanthomatosis |
|
Osteopenia, Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased n... |
ORPHA:909 |
Wagro Syndrome |
|
Cataract, Corneal opacity, Micrognathia, Low-set ears, Aniridia |
OMIM:612469 |
Multiple Sulfatase Deficiency |
|
Broad hallux, Corneal opacity, Hypoplastic vertebral bodies, Broad thumb, Hearing impairment |
OMIM:272200 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Increased body mass index, Enlarged pituitary gland,... |
ORPHA:300373 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Posteriorly rotated ears, Patchy osteosclerosis, Micrognathia, Small hand, Short foot, Low-set ea... |
OMIM:241410 |
Juvenile Sialidosis Type 2 |
|
Cataract, Corneal opacity, Optic atrophy, Low-set ears, Hearing impairment |
ORPHA:93399 |
Mucopolysaccharidosis, Type Iva |
|
Joint laxity, Coxa valga, Epiphyseal deformities of tubular bones, Hypoplasia of the odontoid pro... |
OMIM:253000 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia, Osteopetrosis |
ORPHA:3240 |
Gm1 Gangliosidosis |
|
Corneal opacity, Camptodactyly of finger, Joint stiffness, Optic atrophy, Abnormal diaphysis morp... |
ORPHA:354 |
Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Osteoarthritis, Osteolysis, Pedal edema, Pathologic f... |
ORPHA:77259 |
Omodysplasia 2 |
|
Short humerus, Posteriorly rotated ears, Micrognathia, Fibular hypoplasia, Limited elbow flexion/... |
OMIM:164745 |
Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia |
OMIM:165590 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Recurrent fractur... |
ORPHA:140 |
Estrogen Resistance Syndrome |
|
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... |
ORPHA:785 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Iris coloboma, Sclerocornea, Hearing impairment |
ORPHA:77298 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets, Corneal crystals |
OMIM:219900 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ... |
OMIM:263520 |
Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... |
OMIM:108720 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
Dent Disease 1 |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalacia, Bowing of the le... |
OMIM:300009 |
Chronic Bilirubin Encephalopathy |
|
Conjunctival icterus, Abnormal conjunctiva morphology, Abnormal auditory evoked potentials, Senso... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Conjunctival icterus, Abnormal conjunctiva morphology, Abnormal auditory evoked potentials, Senso... |
ORPHA:529799 |
X-Linked Recessive Ocular Albinism |
|
Abnormal pupil morphology, Astigmatism, Ocular albinism, Iris hypopigmentation |
ORPHA:54 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Cystinosis |
|
Rickets, Corneal opacity |
ORPHA:213 |
Cockayne Syndrome B |
|
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... |
OMIM:133540 |
Cutis Marmorata Telangiectatica Congenita |
|
Short lower limbs, Leukocoria, Bowing of the legs |
OMIM:219250 |
De Barsy Syndrome |
|
Osteopenia, Cataract, Corneal opacity, Congenital hip dislocation, Generalized joint laxity, Tali... |
ORPHA:2962 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Central heterochromia, Micrognathia, Abnormal pupil morphology, ... |
ORPHA:233 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Cataract, Micrognathia, Brushfield spots, Metatarsus adductus, Optic nerve dysplasia, Talipes equ... |
OMIM:214110 |
Stromme Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Micrognathia, Preaxial polydactyly, Microcornea, ... |
OMIM:243605 |
Chime Syndrome |
|
Corneal opacity, Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hip dislocat... |
ORPHA:3474 |
Oculodentodigital Dysplasia |
|
Micrognathia, Microcornea, Clinodactyly of the 5th finger, Conductive hearing impairment, Finger ... |
ORPHA:2710 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Cataract, Sclerocornea, Micrognathia, Sensorineural hearing impairm... |
OMIM:614230 |
Mucopolysaccharidosis, Type Vi |
|
Epiphyseal dysplasia, Corneal opacity, Joint stiffness, Hypoplasia of the odontoid process, Metap... |
OMIM:253200 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Fasting hyperinsulinemia, Hypoglycemic seizures, Hyp... |
ORPHA:71212 |
Poems Syndrome |
|
Sclerosis of hand bone, Papilledema, Sclerosis of foot bone, Metaphyseal sclerosis, Sclerosis of ... |
ORPHA:2905 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... |
OMIM:610915 |
Mucopolysaccharidosis Type 1 |
|
Corneal opacity, Joint stiffness, Sensorineural hearing impairment, Split hand, Optic atrophy, Ab... |
ORPHA:579 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Papilledema, Nongranulomatous uveitis, Cataract, Choroidal neovascularization, Anterior uveitis, ... |
ORPHA:91500 |
Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Pes cavus, E... |
ORPHA:206443 |
Tbck-Related Intellectual Disability Syndrome |
|
11 pairs of ribs, Broad toe, Corneal opacity, Sensorineural hearing impairment, Osteoporosis, 2-3... |
ORPHA:488632 |
Osteopetrosis, Autosomal Recessive 3 |
|
Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis, Optic nerve compression |
OMIM:259730 |
Mosaic Trisomy 1 |
|
Microretrognathia, Long toe, Broad toe, Toe syndactyly, Abnormal pinna morphology, Camptodactyly ... |
ORPHA:1692 |
Osteogenesis Imperfecta |
|
Osteopenia, Micromelia, Micrognathia, Osteoarthritis, Flexion contracture, Abnormal tibia morphol... |
ORPHA:666 |
Weill-Marchesani Syndrome 2 |
|
Iridodonesis, Short metacarpal, Cataract, Joint stiffness, Lens luxation, Ectopia lentis, Broad m... |
OMIM:608328 |
Lcat Deficiency |
|
Corneal opacity |
ORPHA:650 |
Trisomy 10P |
|
Thumb contracture, Posteriorly rotated ears, Abnormal auditory evoked potentials, Micrognathia, E... |
ORPHA:171929 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Joint contracture, Optic atrophy |
OMIM:616881 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
Mosaic Trisomy 9 |
|
Corneal opacity, Camptodactyly of finger, Micromelia, Micrognathia, Rocker bottom foot, Limitatio... |
ORPHA:99776 |
Mucopolysaccharidosis Type 3 |
|
Craniofacial hyperostosis, Mixed hearing impairment, Cataract, Corneal opacity, Thickened helices... |
ORPHA:581 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Cataract, Foot joint contracture, Optic atrophy, Uveitis, Co... |
ORPHA:90321 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
Galactosialidosis |
|
Conjunctival telangiectasia, Opacification of the corneal stroma, Hearing impairment |
OMIM:256540 |
Hurler Syndrome |
|
Corneal opacity, Camptodactyly of finger, Limitation of joint mobility, Narrow pelvis bone, Abnor... |
ORPHA:93473 |
Facial Spasm |
|
Anisocoria |
OMIM:134300 |
Donohue Syndrome |
|
Precocious puberty, Hyperinsulinemia, Severe failure to thrive, Pancreatic islet-cell hyperplasia... |
OMIM:246200 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Corneal opacity |
OMIM:602400 |
Woolly Hair |
|
Abnormal pupil morphology, Cataract |
ORPHA:170 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cataract, Corneal opacity, Optic nerve hypoplasia, Micrognathia, Optic atrophy, Buphthalmos, Cong... |
OMIM:236670 |
Acro-Renal-Mandibular Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapula... |
ORPHA:958 |
Juvenile Glaucoma |
|
Optic neuropathy, Abnormality iris morphology, Increased cup-to-disc ratio, Temporal optic disc p... |
ORPHA:98977 |
Mend Syndrome |
|
Cataract, Broad hallux, Overlapping toe, Abnormal auditory evoked potentials, Micrognathia, Long ... |
ORPHA:401973 |
Hyperoxaluria, Primary, Type I |
|
Increased bone mineral density, Choroidal neovascularization, Optic neuropathy, Optic atrophy, Pa... |
OMIM:259900 |
Alstrom Syndrome |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimul... |
OMIM:203800 |
Gaucher Disease |
|
Osteopenia, Increased bone mineral density, Osteomyelitis, Corneal opacity, Recurrent fractures, ... |
ORPHA:355 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Proximal lower limb amyotrophy, Optic nerve hypoplasia, Decr... |
ORPHA:101085 |
Incontinentia Pigmenti |
|
Finger syndactyly, Cataract, Corneal opacity, Camptodactyly of finger, Abnormal chorioretinal mor... |
ORPHA:464 |
Perlman Syndrome |
|
Hyperinsulinemia |
ORPHA:2849 |
Tyrosinemia Type 2 |
|
Palmoplantar keratoderma, Corneal opacity |
ORPHA:28378 |
Desmosterolosis |
|
Posteriorly rotated ears, Rhizomelia, Micrognathia, Generalized osteosclerosis, Cupped ear, Bilat... |
OMIM:602398 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Glucose intolerance, Hyper... |
OMIM:608612 |
Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
Mpi-Cdg |
|
Failure to thrive, Hypothyroidism, Hyperinsulinemic hypoglycemia |
ORPHA:79319 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Sclerocornea, Micrognathia, Aplasia/Hypoplasia of th... |
ORPHA:3472 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hyperinsulinemic hypoglycemia, Failure to thrive, Steatorrhea |
OMIM:602579 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology, Aganglionic megacolon |
ORPHA:2151 |
Blau Syndrome |
|
Nongranulomatous uveitis, Cataract, Camptodactyly of finger, Band keratopathy, Synovitis, Uveitis... |
OMIM:186580 |
Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
Cockayne Syndrome A |
|
Hip contracture, Cataract, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decrea... |
OMIM:216400 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Calf muscle pseudohypertrophy, Cataract, Optic nerve hypoplasia, Optic atrophy, Abnormality iris ... |
ORPHA:370959 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Sclerosteosis 1 |
|
Papilledema, Syndactyly, Facial palsy, Sclerotic scapulae, Optic atrophy, 2-3 finger syndactyly, ... |
OMIM:269500 |
Schimke Immuno-Osseous Dysplasia |
|
Wide capital femoral epiphyses, Corneal opacity, Abnormal femoral head morphology, Hypoplastic pe... |
ORPHA:1830 |
Congenital Disorder Of Glycosylation, Type Im |
|
Failure to thrive, Hypoketotic hypoglycemia, Increased circulating free fatty acid level |
OMIM:610768 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Posteriorly rotated ears, Hypoplastic scapulae, Micrognat... |
OMIM:200980 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Brachydactyly, Corneal opacity, Aplasia of the distal phalanx of the 5th toe, Aplasia of the dist... |
ORPHA:364577 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ... |
ORPHA:2879 |
12Q14 Microdeletion Syndrome |
|
Clinodactyly of the 5th finger, Osteopoikilosis, Micrognathia |
ORPHA:94063 |
Fucosidosis |
|
Corneal opacity, Hearing impairment |
ORPHA:349 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae, Hearing impairment |
OMIM:601499 |
Late-Onset Retinal Degeneration |
|
Iris atrophy, Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretin... |
ORPHA:67042 |
Acquired Generalized Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Insulin resistance, Hypertriglyceridemia, Hyperinsulinemia |
ORPHA:79086 |
Gomez-Lopez-Hernandez Syndrome |
|
Low-set ears, Opacification of the corneal stroma, Posteriorly rotated ears, Craniosynostosis |
OMIM:601853 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Optic disc pallor, Multiple joint contractures, Corneal opacity, Arachnodactyly, T... |
ORPHA:464306 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Pes planus, Increased bone mineral density, Rocker bottom foot, Micrognat... |
ORPHA:79474 |
Proteus-Like Syndrome |
|
Cataract, Genu recurvatum, Lower limb asymmetry, Abnormal pupil morphology, Hyperostosis, Limbal ... |
ORPHA:2969 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Osteolysis, Abnormal epiphysis morphology, Abnorma... |
ORPHA:35687 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mel... |
OMIM:151660 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Optic disc pallor, Cataract, Posteriorly rotated ears, Rocker bottom foot, Ulnar deviation of the... |
OMIM:214100 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Optic disc pallor, Corneal opacity, Ankle flexion contracture, Tapered finger, Short toe, Protrud... |
ORPHA:464311 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Iris atrophy, Cataract, Recurrent fractures, Metaphyseal widening, Osteoporosis, Incr... |
OMIM:259770 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Long ear, Aplasia/Hypop... |
OMIM:276820 |
Campomelic Dysplasia |
|
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... |
OMIM:114290 |
Fabry Disease |
|
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Sensorineural hearing ... |
ORPHA:324 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Micrognathia, Metaphyseal widening, Megalocornea, Hypoplasia of the odontoid process,... |
OMIM:252500 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... |
ORPHA:99027 |
Congenital Disorder Of Deglycosylation 1 |
|
Corneal opacity, Osteoporosis, Small hand, Short foot, Corneal ulceration, Low-set ears, Decrease... |
OMIM:615273 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti... |
OMIM:304120 |
Fryns Syndrome |
|
Low-set, posteriorly rotated ears, Aganglionic megacolon, Corneal opacity, Micrognathia, Clinodac... |
ORPHA:2059 |
Oculocerebrorenal Syndrome Of Lowe |
|
Low-set, posteriorly rotated ears, Cataract, Corneal opacity, Recurrent fractures, Osteomalacia, ... |
ORPHA:534 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... |
ORPHA:206436 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Marginal corneal dystrophy, Chorioretinal atrophy, Corneal crystals |
OMIM:210370 |
Wilson Disease |
|
Arthritis, Pathologic fracture, Kayser-Fleischer ring |
ORPHA:905 |
Neurofibromatosis Type 1 |
|
Cataract, Corneal opacity, Recurrent fractures, Joint stiffness, Genu varum, Genu valgum, Slender... |
ORPHA:636 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Failure to thrive, Insulin resistance, Hypertriglyceridemia, Hyperinsulinemia |
OMIM:613327 |
Bartsocas-Papas Syndrome 1 |
|
Micrognathia, Flexion contracture, Hypoplastic iliac wing, Pterygium, Short phalanx of finger, Sy... |
OMIM:263650 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Hypoplasia of the capital femoral epiphysis, Astigmatism, Talipes equinovarus, Latera... |
OMIM:242900 |
Cystinosis, Adult Nonnephropathic |
|
Corneal crystals |
OMIM:219750 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Osteopetrosis |
OMIM:612840 |
Williams Syndrome |
|
Osteopenia, Micrognathia, Protruding ear, Clinodactyly of the 5th finger, Megalocornea, Joint lax... |
ORPHA:904 |
Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Tetraphocomelia, Knee flexion contracture, Phocomelia, Wrist flexion contracture, S... |
OMIM:268300 |
Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal... |
ORPHA:649 |
Boomerang Dysplasia |
|
Absent radius, Hypoplastic iliac body, Fibular aplasia |
OMIM:112310 |
Wolf-Hirschhorn Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplastic pubic ramus, Arachnodactyly, Sclerocornea, Short h... |
ORPHA:280 |
Meckel Syndrome |
|
Low-set, posteriorly rotated ears, Bowing of the long bones, Cataract, Abnormal chorioretinal mor... |
ORPHA:564 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality, Pes cavus |
ORPHA:206448 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis |
OMIM:618541 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal... |
OMIM:180500 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Femur fracture, Optic atrophy, Osteopetrosis, Optic nerve co... |
OMIM:612301 |
Unilateral Ocular Duplication |
|
Microcornea, Abnormal pupil morphology, Iris coloboma |
ORPHA:3374 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Posteriorly rotated ears, Corneal opacity, Micrognathia, Aplasia of the distal phalanx of the 5th... |
OMIM:608670 |
Lathosterolosis |
|
Cataract, Toe syndactyly, Talipes, Micrognathia, Postaxial hand polydactyly, Microcornea, Postaxi... |
ORPHA:46059 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Tangier Disease |
|
Facial diplegia, Opacification of the corneal stroma |
OMIM:205400 |
Mucopolysaccharidosis Type 2 |
|
Papilledema, Otosclerosis, Corneal opacity, Decreased nerve conduction velocity, Conductive heari... |
ORPHA:580 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Wide distal femoral metaphysis, Postaxial hand polydactyly, Apla... |
OMIM:269150 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Optic nerve aplasia, Cataract, Optic nerve hypoplasia, Sclerocornea, Missing ri... |
OMIM:206900 |
Mosaic Variegated Aneuploidy Syndrome |
|
Low-set, posteriorly rotated ears, Cataract, Corneal opacity, Micrognathia, Osteolysis, Clinodact... |
ORPHA:1052 |
Limb Body Wall Complex |
|
Duplication of hand bones, Corneal opacity, Broad hallux, Aplasia/hypoplasia involving bones of t... |
ORPHA:2369 |
Galloway-Mowat Syndrome 1 |
|
Cataract, Micrognathia, Macrotia, Optic atrophy, Hand clenching, Hypoplasia of the iris, Talipes ... |
OMIM:251300 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Corneal opacity, Bone cyst, Osteolysis, Iris coloboma |
ORPHA:2396 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Impaired glucose tolerance, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia... |
OMIM:248370 |
Ablepharon Macrostomia Syndrome |
|
Toe syndactyly, Corneal opacity, Camptodactyly of finger, Corneal erosion, Microtia, Atresia of t... |
ORPHA:920 |
Pseudo-Torch Syndrome 1 |
|
Low-set ears, Microretrognathia, Cataract, Opacification of the corneal stroma |
OMIM:251290 |
Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Reduced bone mineral density, Os... |
ORPHA:667 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Papilledema, Otosclerosis, Corneal opacity, Camptodactyly of finger, Sensorineural hearing impair... |
ORPHA:217085 |
Hec Syndrome |
|
Abnormal pupil morphology, Developmental cataract |
ORPHA:2119 |
Autosomal Dominant Cutis Laxa |
|
Osteopenia, Joint laxity, Pes planus, Corneal opacity, Genu recurvatum, Hip dislocation, Talipes ... |
ORPHA:90348 |
Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Corneal opacity, Camptodactyly of finger, Flexion contracture, Palmoplantar ke... |
ORPHA:2908 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Papilledema, Otosclerosis, Corneal opacity, Camptodactyly of finger, Sensorineural hearing impair... |
ORPHA:217093 |
Autoimmune Polyendocrinopathy Type 1 |
|
Cataract, Opacification of the corneal stroma |
ORPHA:3453 |
Hydrolethalus Syndrome 1 |
|
Abnormal pinna morphology, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, D... |
OMIM:236680 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Sclerocornea, Micrognathia, Short metatarsal, Palmoplantar hyperkerat... |
OMIM:216340 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Early ossification of capital femoral epiphyses, Cone-shaped epiphyses of... |
OMIM:208500 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Small for gestational age, Increased circulating free fatty acid level, Overweight, Obesity, Hypo... |
ORPHA:26793 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of the iris, Ectopia ... |
OMIM:175780 |
Primary Hyperoxaluria |
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Optic disc pallor, Choroidal neovascularization, Recurrent fractures, Generalized osteosclerosis,... |
ORPHA:416 |
Woodhouse-Sakati Syndrome |
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Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... |
ORPHA:3464 |
Peters Plus Syndrome |
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Low-set, posteriorly rotated ears, Microtia, second degree, Cataract, Corneal opacity, Toe syndac... |
ORPHA:709 |
Hutchinson-Gilford Progeria Syndrome |
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Limitation of movement at ankles, High-frequency sensorineural hearing impairment, Corneal opacit... |
ORPHA:740 |
Coats Disease |
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Leukocoria |
OMIM:300216 |
Acromelic Frontonasal Dysplasia |
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Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia |
ORPHA:1827 |
Encephalocraniocutaneous Lipomatosis |
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Hypoplasia of the iris, Limbal dermoid, Sclerocornea |
OMIM:613001 |
Osteopathia Striata With Cranial Sclerosis |
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Paranasal sinus hypoplasia, Posteriorly rotated ears, Facial palsy, Arachnodactyly, Micrognathia,... |
OMIM:300373 |
Acrofrontofacionasal Dysostosis 1 |
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Iris atrophy, Short metacarpal, Mixed hearing impairment, Optic atrophy, Acetabular dysplasia, Br... |
OMIM:201180 |
Smith-Lemli-Opitz Syndrome |
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Sclerocornea, Micrognathia, Proximal placement of thumb, Talipes calcaneovalgus, Iris coloboma, L... |
ORPHA:818 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
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Cataract, Micrognathia, Brushfield spots, Metatarsus adductus, Sensorineural hearing impairment, ... |
OMIM:614866 |
1Q41Q42 Microdeletion Syndrome |
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Talipes equinovarus, Abnormality iris morphology |
ORPHA:250999 |
Lathosterolosis |
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Cataract, Toe syndactyly, Micrognathia, Postaxial hand polydactyly, Osteoporosis, Postaxial foot ... |
OMIM:607330 |
Neonatal Marfan Syndrome |
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Long toe, Iridodonesis, Arachnodactyly, Ectopia lentis, Micrognathia, Long fingers, Flexion contr... |
ORPHA:284979 |
Mogs-Cdg |
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Absent brainstem auditory responses, Sensorineural hearing impairment, Overlapping fingers, Optic... |
ORPHA:79330 |
Gaucher Disease Type 3 |
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Increased bone mineral density, Osteolysis, Increased susceptibility to fractures |
ORPHA:77261 |
Collagenoma, Familial Cutaneous |
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Iris atrophy, Sensorineural hearing impairment |
OMIM:115250 |
Mucoepithelial Dysplasia, Hereditary |
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Cataract, Keratoconjunctivitis, Opacification of the corneal stroma, Corneal neovascularization, ... |
OMIM:158310 |
Apolipoprotein A-I Deficiency |
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Opacification of the corneal stroma |
ORPHA:425 |
Wilson Disease |
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Osteomalacia, Decreased nerve conduction velocity, Osteoarthritis, Osteoporosis, Pedal edema, Kay... |
OMIM:277900 |
Leprechaunism |
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Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hyperaldosteronism, Recurrent infan... |
ORPHA:508 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Cataract, Sclerocornea, Peters anomaly, Iris coloboma, Hearing impairment |
OMIM:309801 |
Proboscis Lateralis |
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Aplasia/Hypoplasia of the maxilla, Cataract, Corneal opacity, Optic nerve hypoplasia, Optic disc ... |
ORPHA:141099 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
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Palmoplantar keratoderma, Corneal opacity, Craniosynostosis |
ORPHA:79396 |
Cranioectodermal Dysplasia 1 |
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Joint laxity, Broad toe, Brachydactyly, Short humerus, Rhizomelia, Sagittal craniosynostosis, Bro... |
OMIM:218330 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
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Corneal opacity, Corneal dystrophy, Optic nerve hypoplasia, Micrognathia, Buphthalmos, Keratoconj... |
ORPHA:495875 |
Neurocardiofaciodigital Syndrome |
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Optic disc pallor, Syndactyly, Cataract, Sclerocornea, Polydactyly, Hearing impairment |
OMIM:619869 |
Phace Syndrome |
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Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma |
ORPHA:42775 |
Histiocytoid Cardiomyopathy |
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Megalocornea, Optic atrophy, Corneal opacity, Congenital aphakia |
ORPHA:137675 |
Lipodystrophy, Congenital Generalized, Type 1 |
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Diabetes mellitus, Hypertriglyceridemia, Decreased serum leptin, Hyperinsulinemia, Insulin-resist... |
OMIM:608594 |
Hereditary Acrokeratotic Poikiloderma |
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Finger syndactyly, Camptodactyly of finger, Palmoplantar hyperkeratosis, Keratoconjunctivitis, Jo... |
ORPHA:2907 |
Prader-Willi Syndrome |
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Failure to thrive in infancy, Hypogonadotropic hypogonadism, Decreased response to growth hormone... |
OMIM:176270 |
Charge Syndrome |
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Hypoplasia of the ulna, Mixed hearing impairment, Cataract, Facial palsy, Down-sloping shoulders,... |
OMIM:214800 |
Dopamine Beta-Hydroxylase Deficiency |
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Insulin resistance, Hyperinsulinemia, Hypoglycemia |
ORPHA:230 |
Microphthalmia With Linear Skin Defects Syndrome |
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Corneal opacity, Chorioretinal dysplasia, Sclerocornea, Micrognathia, Abnormal earlobe morphology... |
ORPHA:2556 |
Microphthalmia, Syndromic 6 |
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Finger syndactyly, Brachydactyly, Toe syndactyly, Posteriorly rotated ears, Thumb contracture, Sc... |
OMIM:607932 |
Fraser Syndrome 1 |
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Aplasia/Hypoplasia of the thumb, Corneal opacity, Abnormal pinna morphology, Aplasia/Hypoplasia o... |
OMIM:219000 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Abnormal pelvis bone morphology, Corneal opacity, Camptodactyly of finger, Aganglionic megacolon,... |
ORPHA:2273 |
Xeroderma Pigmentosum |
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Conjunctival telangiectasia, Craniofacial hyperostosis, Cataract, Keratitis, Sensorineural hearin... |
ORPHA:910 |
Orofaciodigital Syndrome Type 4 |
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Finger syndactyly, Microtia, third degree, Posteriorly rotated ears, Camptodactyly of finger, Mic... |
ORPHA:2753 |
Tangier Disease |
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Facial diplegia, Corneal opacity |
ORPHA:31150 |
Wiedemann-Rautenstrauch Syndrome |
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Osteopenia, Long toe, Short humerus, Cataract, Corneal opacity, Camptodactyly of finger, Posterio... |
ORPHA:3455 |
Lipodystrophy, Congenital Generalized, Type 2 |
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Hypertriglyceridemia, Decreased serum leptin, Hyperinsulinemia, Insulin-resistant diabetes mellit... |
OMIM:269700 |
Oculoectodermal Syndrome |
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Lower limb asymmetry, Chorioretinal atrophy, Microcornea, Astigmatism, Opacification of the corne... |
OMIM:600268 |
Kinsship Syndrome |
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Osteopenia, Pes planus, Micrognathia, Coxa valga, Hip dislocation, Fibular hypoplasia, Polydactyl... |
OMIM:619297 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Tinnitus, Opacification of the corneal stroma, Hearing impairment |
ORPHA:79280 |
Osteopetrosis With Renal Tubular Acidosis |
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Recurrent fractures, Micrognathia, Cranial nerve compression, Optic atrophy, Osteopetrosis, Condu... |
ORPHA:2785 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
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Sclerocornea |
OMIM:300952 |
Fryns Syndrome |
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Microretrognathia, Prominent fingertip pads, Aganglionic megacolon, Rocker bottom foot, Proximal ... |
OMIM:229850 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Low-set, posteriorly rotated ears, Mixed hearing impairment, Cataract, Brachydactyly, Micrognathi... |
ORPHA:444077 |
Pierson Syndrome |
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Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Hypoplasia of the iris... |
OMIM:609049 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Hallux valgus, Papilledema, Corneal opacity, Sensorineural hearing impairment, Pes cavus |
ORPHA:2072 |
Gaucher Disease, Type Iiic |
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Pes cavus, Opacification of the corneal stroma |
OMIM:231005 |
Atelis Syndrome 2 |
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Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia |
OMIM:620185 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Cataract, Micrognathia, Optic atrophy, Buphthalmos, EEG abnormality, Opacification of the corneal... |
OMIM:253280 |
Steinert Myotonic Dystrophy |
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Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
ORPHA:273 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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Pes planus, Arachnodactyly, Abnormality iris morphology |
ORPHA:91387 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... |
ORPHA:99413 |
Turner Syndrome |
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Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... |
ORPHA:881 |
Mosaic Monosomy X |
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Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... |
ORPHA:99228 |
Monosomy X |
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Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... |
ORPHA:99226 |
Alopecia-Intellectual Disability Syndrome |
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Brachydactyly, Flexion contracture, Split hand, EEG abnormality, Macrotia, Hearing impairment |
ORPHA:2850 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
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Aganglionic megacolon, Keratitis, Postaxial hand polydactyly, Hip dislocation, Ectrodactyly, Opac... |
OMIM:308205 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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11 pairs of ribs, Optic nerve dysplasia, Opacification of the corneal stroma |
OMIM:615287 |
Digeorge Syndrome |
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Sclerocornea, Micrognathia, Patellar dislocation, Low-set ears, Posterior embryotoxon |
OMIM:188400 |
Alström Syndrome |
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Hypertriglyceridemia, Precocious puberty in females, Decreased response to growth hormone stimula... |
ORPHA:64 |
Pmm2-Cdg |
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Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Insulin resista... |
ORPHA:79318 |
Alopecia-Intellectual Disability Syndrome 1 |
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OMIM:203650 |