Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Cataract, Hyperbilirubinemia |
OMIM:618660 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia, Hypoproteinemia, Sensorineural hearing impairment |
OMIM:221400 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Enterokinase Deficiency |
|
Failure to thrive, Hypoproteinemia |
OMIM:226200 |
Galactosemia Iv |
|
Cataract, Hypergalactosemia |
OMIM:618881 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... |
OMIM:112910 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... |
OMIM:118651 |
Intrinsic Factor Deficiency |
|
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... |
OMIM:261000 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
Lymphangiectasia, Intestinal |
|
Stillbirth, Neonatal hypoproteinemia, Pedal edema |
OMIM:152800 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Immunodeficiency 43 |
|
Hypoplasia of the ulna, Radial bowing, Decreased circulating beta-2-microglobulin level, Hypoalbu... |
OMIM:241600 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Tachycardia, Small for gestational age, Elevated circulating creatine kina... |
ORPHA:26793 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... |
OMIM:249700 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... |
OMIM:607778 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
Congenital Analbuminemia |
|
Small for gestational age, Hyperlipidemia, Obesity, Pedal edema, Increased alpha-globulin, Hypoal... |
ORPHA:86816 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Decreased HDL cholesterol concentration, Corneal arcus, Cataract |
OMIM:618463 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Clinodactyly of the 5th finger, Hypoproteinemia |
ORPHA:1116 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... |
ORPHA:90044 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Talipes equinovarus, Facial palsy, Abnormal auditory e... |
OMIM:601382 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ... |
ORPHA:3202 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Hyperferritinemia With Or Without Cataract |
|
Increased circulating ferritin concentration, Nuclear cataract, Pulverulent cataract |
OMIM:600886 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypoalbuminemia |
OMIM:256300 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Clinodactyly of the 5th finger, Micrognathia, Hypoproteinemia, Hypsarrhythmia |
OMIM:608093 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Hypotension, Hypoproteinemia |
ORPHA:99828 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia |
OMIM:207731 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Pulmonary embolism, Clubbing, Clubbing of fingers, Hypoalbuminemia, Budd-Chiari syndrome, Hypopro... |
OMIM:226300 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Gastrointestinal hemorrhage, Weight loss |
ORPHA:2494 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Mesomelic Dysplasia, Savarirayan Type |
|
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... |
OMIM:605274 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Pancreatic insufficiency, combined exocrine |
|
Congestive heart failure, Hypoproteinemia |
OMIM:260450 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... |
ORPHA:2756 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... |
ORPHA:766 |
Refractory Celiac Disease |
|
Hypophosphatemia, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia |
ORPHA:398063 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Posteriorly rotated ears, Overlapping toe, Micrognathia, Fibular hypoplasia, Ta... |
OMIM:201170 |
Slc35A2-Cdg |
|
Increased circulating thyroglobulin level, Failure to thrive in infancy, Camptodactyly of finger,... |
ORPHA:356961 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s... |
OMIM:616648 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v... |
ORPHA:98870 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
Iron-Refractory Iron Deficiency Anemia |
|
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... |
OMIM:206200 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated circulating creatine kinase concentration, Congestive heart failure, Dilated cardiomyopa... |
OMIM:615895 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Ravine Syndrome |
|
Failure to thrive, Abnormal auditory evoked potentials, Decreased body weight |
ORPHA:99852 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Abnormal pinna morphology, Small for gestational age, Rhizomelia, San... |
OMIM:607143 |
Primary Intestinal Lymphangiectasia |
|
Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia |
ORPHA:90362 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Johanson-Blizzard Syndrome |
|
Sensorineural hearing impairment, Failure to thrive, Hypoproteinemia |
ORPHA:2315 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Low-set ... |
OMIM:258860 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Micrognathia, Postaxial hand polydactyly, Hypocalcemia, Low-set ears, Hypoproteinemia |
OMIM:235255 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum... |
OMIM:185000 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, For... |
OMIM:251230 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... |
ORPHA:1106 |
Stuve-Wiedemann Syndrome 1 |
|
Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contracture, Short tibia, Short phalanx... |
OMIM:601559 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... |
ORPHA:320401 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Cupped ear, Hand monodacty... |
OMIM:119100 |
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 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... |
OMIM:617519 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Tricuspid regurgitation, Short femur, Abnormal circulating ceruloplasmin concentration, Talipes e... |
OMIM:620306 |
Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Micrognathia, Postaxial hand polydactyly, Hypocalcemia, Low-set ears, Hypoproteinemia |
ORPHA:1655 |
Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Protruding ear, Clinodactyly of the 5th finger, Short ... |
OMIM:268305 |
Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Talipes, Microgn... |
OMIM:227270 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Omenn Syndrome |
|
Failure to thrive, Hypoproteinemia |
OMIM:603554 |
Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... |
OMIM:600501 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... |
OMIM:228900 |
Eiken Syndrome |
|
Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m... |
ORPHA:79106 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Increased mean corpuscular ... |
OMIM:617021 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
Blount Disease |
|
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... |
ORPHA:2768 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Hypertriglyceridemia, Epistaxis, Decreased nerve conduction velocity, Increased cir... |
ORPHA:167 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Stillbirth, Bilate... |
OMIM:119800 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... |
ORPHA:85188 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... |
OMIM:171480 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... |
OMIM:609945 |
Aniridia 2 |
|
Aniridia, Iris coloboma, Cataract, Lens subluxation |
OMIM:617141 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Overweight, Hypovolemia, Obesity, E... |
ORPHA:90041 |
Cataract 3, Multiple Types |
|
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural hearing i... |
OMIM:601455 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... |
ORPHA:85170 |
Orofaciodigital Syndrome Ix |
|
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly |
OMIM:258865 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ... |
OMIM:616300 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... |
ORPHA:2378 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Absent Achi... |
ORPHA:1215 |
Bent Bone Dysplasia Syndrome 2 |
|
Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Short ri... |
OMIM:620076 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
Femoral-Facial Syndrome |
|
Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pelvic girdle bone mor... |
ORPHA:1988 |
Atelosteogenesis Type Iii |
|
Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han... |
ORPHA:56305 |
Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Arthrogryposis, Distal, Type 2A |
|
Hip contracture, Flexion contracture of finger, Small for gestational age, Shoulder flexion contr... |
OMIM:193700 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Abnormal pinna morphology, Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic... |
OMIM:617925 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... |
ORPHA:2751 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Hip dislocation, Abnormal auditory evoked potentials, Coxa valga |
OMIM:109120 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Micrognathia, Increased circu... |
OMIM:619991 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... |
ORPHA:2634 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m... |
OMIM:277410 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Chronic Bilirubin Encephalopathy |
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Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
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Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr... |
ORPHA:529799 |
Acromesomelic Dysplasia 3 |
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Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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Large for gestational age, Micrognathia, Tibial bowing, Hypoplastic iliac wing, Small proximal ti... |
ORPHA:96334 |
Amoebic Keratitis |
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Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Microphthalmia With Limb Anomalies |
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Toe syndactyly, Posteriorly rotated ears, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous s... |
OMIM:206920 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
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Optic disc pallor, Broad finger, Abnormal auditory evoked potentials |
OMIM:617523 |
Thrombocytopenia-Absent Radius Syndrome |
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Low-set, posteriorly rotated ears, Finger syndactyly, Tibial torsion, Micrognathia, Absent radius... |
ORPHA:3320 |
Juvenile Polyposis Syndrome |
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Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Transient ischemic attack, Epistax... |
ORPHA:2929 |
Diamond-Blackfan Anemia 6 |
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Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
Mohr-Tranebjaerg Syndrome |
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Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Prelingual ... |
ORPHA:52368 |
Acheiropodia |
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Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Pierson Syndrome |
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Hypertension, Hypoproteinemia, Retinal hemorrhage |
OMIM:609049 |
Acromelic Frontonasal Dysostosis |
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Syndactyly, Optic nerve hypoplasia, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hyp... |
OMIM:603671 |
Methylcobalamin Deficiency Type Cble |
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Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Increased mean corpuscul... |
ORPHA:2169 |
Hypophosphatemic Rickets, X-Linked Dominant |
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Shortening of the talar neck, Bowing of the legs, Abnormal circulating calcium concentration, Tra... |
OMIM:307800 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
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Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow... |
OMIM:602111 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Tricuspid regurgitation, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate ... |
OMIM:263520 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
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Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Irregul... |
OMIM:619260 |
Omodysplasia 1 |
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Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite... |
OMIM:258315 |
Cataract 39, Multiple Types |
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Lamellar cataract, Anterior polar cataract, Developmental cataract |
OMIM:615188 |
Atelosteogenesis, Type I |
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Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vertebral hypopl... |
OMIM:108720 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
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Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Mend Syndrome |
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Broad hallux, Overlapping toe, Abnormal auditory evoked potentials, Micrognathia, Long fingers, E... |
ORPHA:401973 |
Infantile Krabbe Disease |
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Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve conduction velocity, Op... |
ORPHA:206436 |
Immunodeficiency 96 |
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Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu... |
OMIM:619774 |
Ophthalmomandibulomelic Dysplasia |
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Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ... |
OMIM:164900 |
Multiple Myeloma |
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Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia, Weight loss |
ORPHA:29073 |
Eiken Syndrome |
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Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... |
OMIM:600002 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
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Increased circulating ferritin concentration, Vestibular areflexia, Absent brainstem auditory res... |
ORPHA:3240 |
Diamond-Blackfan Anemia |
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Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Developmental glaucoma, Reti... |
ORPHA:124 |
Trisomy 10P |
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Thumb contracture, Small for gestational age, Posteriorly rotated ears, Abnormal auditory evoked ... |
ORPHA:171929 |
Acrofacial Dysostosis, RodrÃguez Type |
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Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird... |
ORPHA:1788 |
Late-Infantile/Juvenile Krabbe Disease |
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Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Pes cavus, E... |
ORPHA:206443 |
Bone Marrow Failure Syndrome 3 |
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Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
Saul-Wilson Syndrome |
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Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg... |
OMIM:618150 |
Leptospirosis |
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Papilledema, Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subconjunctiv... |
ORPHA:509 |
Fibrochondrogenesis 1 |
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Hypoplastic scapulae, Abnormal pinna morphology, Rhizomelia, Dumbbell-shaped long bone, Broad lon... |
OMIM:228520 |
Cockayne Syndrome Type 1 |
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Absent brainstem auditory responses, Foot joint contracture, Macrotia, Optic atrophy, Hypertensio... |
ORPHA:90321 |
Hemophagocytic Syndrome Associated With An Infection |
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Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia |
ORPHA:158048 |
Tibial Hemimelia |
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Absent tibia |
OMIM:275220 |
Fibular Dimelia-Diplopodia Syndrome |
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Absent tibia |
ORPHA:1757 |
Cataract 31, Multiple Types |
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Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
Shwachman-Diamond Syndrome |
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Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
Acro-Renal-Mandibular Syndrome |
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Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapula... |
ORPHA:958 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Cataract 15, Multiple Types |
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Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
Cataract 33, Multiple Types |
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Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
Charcot-Marie-Tooth Disease Type 1F |
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Absent brainstem auditory responses, Flexion contracture of finger, Optic nerve hypoplasia, Decre... |
ORPHA:101085 |
Leukodystrophy, Hypomyelinating, 13 |
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Prolonged brainstem auditory evoked potentials, Failure to thrive, Optic atrophy |
OMIM:616881 |
Omodysplasia 2 |
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Short humerus, Posteriorly rotated ears, Micrognathia, Fibular hypoplasia, Hypoplastic distal hum... |
OMIM:164745 |
Boomerang Dysplasia |
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Neonatal death, Absent radius, Hypoplastic iliac body, Fibular aplasia |
OMIM:112310 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Hypoplasia of the ulna, Conjugated hyperbilirubinemia, Early ossification of capital femoral epip... |
OMIM:208500 |
16Q24.3 Microdeletion Syndrome |
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Astigmatism, Thrombocytopenia, Increased mean corpuscular volume |
ORPHA:261250 |
Cockayne Syndrome B |
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Small for gestational age, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decrea... |
OMIM:133540 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
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Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop... |
OMIM:127550 |
Diamond-Blackfan Anemia 7 |
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Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
Cerebrotendinous Xanthomatosis |
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Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... |
ORPHA:909 |
Occipital Horn Syndrome |
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Pes planus, Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the h... |
ORPHA:198 |
Cockayne Syndrome A |
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Hip contracture, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve ... |
OMIM:216400 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... |
ORPHA:99027 |
Campomelic Dysplasia |
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11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d... |
ORPHA:140 |
Hydrolethalus Syndrome 1 |
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Abnormal pinna morphology, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, D... |
OMIM:236680 |
Acrorenal-Mandibular Syndrome |
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Hypoplasia of the ulna, Toe syndactyly, Posteriorly rotated ears, Hypoplastic scapulae, Micrognat... |
OMIM:200980 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
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Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
Adult Krabbe Disease |
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Prolonged brainstem auditory evoked potentials, EEG abnormality, Pes cavus |
ORPHA:206448 |
Thrombocytopenia-Absent Radius Syndrome |
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Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... |
OMIM:274000 |
Phocomelia, Schinzel Type |
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Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ... |
ORPHA:2879 |
Diamond-Blackfan Anemia 1 |
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Macrocytic anemia, Congenital hypoplastic anemia, Primary congenital glaucoma, Reticulocytopenia,... |
OMIM:105650 |
Campomelic Dysplasia |
|
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... |
OMIM:114290 |
Acromelic Frontonasal Dysplasia |
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Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia |
ORPHA:1827 |
Mogs-Cdg |
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Absent brainstem auditory responses, Sensorineural hearing impairment, Overlapping fingers, Optic... |
ORPHA:79330 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Long ear, Aplasia/Hypop... |
OMIM:276820 |
Otopalatodigital Syndrome, Type Ii |
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Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Conduc... |
OMIM:304120 |
Schneckenbecken Dysplasia |
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Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Orofaciodigital Syndrome Type 4 |
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Finger syndactyly, Microtia, third degree, Posteriorly rotated ears, Camptodactyly of finger, Mic... |
ORPHA:2753 |
Charge Syndrome |
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Hypoplasia of the ulna, Mixed hearing impairment, Facial palsy, Down-sloping shoulders, Micrognat... |
OMIM:214800 |
Osteopathia Striata With Cranial Sclerosis |
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Paranasal sinus hypoplasia, Posteriorly rotated ears, Facial palsy, Arachnodactyly, Micrognathia,... |
OMIM:300373 |
Cranioectodermal Dysplasia 1 |
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Broad toe, Brachydactyly, Short humerus, Rhizomelia, Broad distal phalanges of all fingers, Short... |
OMIM:218330 |
Kinsship Syndrome |
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Pes planus, Micrognathia, Coxa valga, Hip dislocation, Fibular hypoplasia, Polydactyly, Low-set e... |
OMIM:619297 |
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, Brachydactyly, Micrognathia, Congest... |
ORPHA:444077 |
Eisenmenger Syndrome |
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Elevated circulating C-reactive protein concentration, Hypochromic microcytic anemia, Iron defici... |
ORPHA:97214 |
Joint Laxity, Short Stature, And Myopia |
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Iris coloboma |
OMIM:617662 |