Hemochromatosis, Type 5 |
|
Anemia, Abnormal circulating copper concentration, Elevated transferrin saturation, Abnormal circ... |
OMIM:615517 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Elevated hepatic iron concentra... |
OMIM:206100 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Anemia, Elevated transferrin saturation, Sideroblastic anemia, Decreased mean corpuscular volume,... |
OMIM:205950 |
Syndactyly Type 4 |
|
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... |
ORPHA:93405 |
Iron Overload, Susceptibility To |
|
Elevated circulating hepcidin concentration, Elevated transferrin saturation, Increased circulati... |
OMIM:620121 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Short 4th metacarpal, Short long bone, Epiphyseal stippling, Short 3rd metacarpal, L... |
OMIM:118651 |
Dentin Dysplasia, Type I |
|
Enamel hypoplasia, Microdontia, Oligodontia, Taurodontia, Pulp obliteration, Periapical bone loss... |
OMIM:125400 |
Regional Odontodysplasia |
|
Gingivitis, Delayed eruption of teeth, Pulp calcification, Alveolar ridge overgrowth, Short denta... |
ORPHA:83450 |
Amelogenesis Imperfecta, Type Ij |
|
Enamel hypoplasia, Widely spaced teeth, Carious teeth, Amelogenesis imperfecta, Increased overbite |
OMIM:617297 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anemia, Cirrhosis, Jaundice, Elevated hepatic transaminase, Erythroid hyperplasia, Hepatosplenome... |
OMIM:616860 |
Acromesomelic Dysplasia 2C |
|
Short tibia, Short foot, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip disloc... |
OMIM:201250 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Genu varum, Progressive leg bowing, Hip dysplasia, Short lower limbs, Gait disturbance, Metaphyse... |
ORPHA:2501 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Hypomature dental enamel |
OMIM:613211 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Genetic Hyperferritinemia Without Iron Overload |
|
Abnormal serum iron concentration, Abnormal transferrin saturation, Increased circulating ferriti... |
ORPHA:254704 |
Lethal Faciocardiomelic Dysplasia |
|
Short tibia, Radial club hand, Short 5th finger, Hypoplasia of the radius, Microretrognathia, Hyp... |
ORPHA:1972 |
Acromesomelic Dysplasia 2A |
|
Short tibia, Short phalanx of finger, Aplasia/Hypoplasia involving the metacarpal bones, Hypoplas... |
OMIM:200700 |
Acrocapitofemoral Dysplasia |
|
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... |
OMIM:607778 |
Langer Mesomelic Dysplasia |
|
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Micrognathia, Radial bowin... |
OMIM:249700 |
Anonychia-Microcephaly Syndrome |
|
Carious teeth, Clinodactyly of the 5th finger, Abnormality of the dentition |
ORPHA:1094 |
Amelogenesis Imperfecta |
|
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Widely spa... |
ORPHA:88661 |
Osebold-Remondini Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Carpal synostosis, Hyp... |
OMIM:112910 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Elevated transferrin saturation, Poikilocytosis, Decreased mean corpuscular volume, Incre... |
OMIM:615234 |
Acromesomelic Dysplasia, Grebe Type |
|
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... |
ORPHA:2098 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Enamel hypomineralization, Carious teeth, Amelogenesis imperfecta, Anterior open-bite malocclusio... |
OMIM:204700 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Syndactyly, Anisocytosis, Anemia ... |
OMIM:615631 |
Amelogenesis Imperfecta, Type Iiib |
|
Amelogenesis imperfecta, Enamel hypomineralization |
OMIM:617607 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Fibular aplasia, Tibial bowing |
OMIM:246570 |
Leri-Weill Dyschondrosteosis |
|
Short tibia, Short toe, Coxa valga, Short 4th metacarpal, High palate, Abnormal carpal morphology... |
OMIM:127300 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion |
OMIM:617217 |
Gracile Syndrome |
|
Cirrhosis, Decreased transferrin saturation, Hepatic steatosis, Increased circulating ferritin co... |
ORPHA:53693 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication |
OMIM:188740 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Dentinogenesis imperfecta, Odontodysplasia, Periapical bone loss, Anterior op... |
OMIM:125500 |
Fibular Hemimelia |
|
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... |
ORPHA:93323 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Enamel hypoplasia, Generalized microdontia, Taurodontia, Amelogenesis imperfecta |
OMIM:104530 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... |
ORPHA:766 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
Acheiropody |
|
Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Aplas... |
OMIM:200500 |
Amelogenesis Imperfecta, Type Iiia |
|
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion |
OMIM:130900 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... |
ORPHA:67044 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Short tibia, Absent thumb, Hypoplasia of the ulna, Short femur, Narrow mouth, Aplasia/Hypoplasia ... |
OMIM:612447 |
Iron Overload In Africa |
|
Elevated transferrin saturation |
OMIM:601195 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Taurodontia, Amelogenesis imperfecta, Anterior open-bite malocclusion,... |
OMIM:204650 |
Orofaciodigital Syndrome Type 10 |
|
Retrognathia, Short tibia, Short toe, Mesomelic leg shortening, Long philtrum, Cleft soft palate,... |
ORPHA:2756 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, ... |
OMIM:616221 |
Léri-Weill Dyschondrosteosis |
|
Short tibia, Abnormal carpal morphology, Abnormal metaphysis morphology, Genu valgum, Abnormality... |
ORPHA:240 |
African Iron Overload |
|
Hepatic fibrosis, Hepatitis, Elevated transferrin saturation, Hepatocellular carcinoma, Hepatic b... |
ORPHA:139507 |
Iron-Refractory Iron Deficiency Anemia |
|
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis |
OMIM:206200 |
Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia ... |
ORPHA:1986 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Hypomature enamel, Anterior open-bite malocclusion, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anemia, Reticulocytopenia, Dysplastic erythropoesis, Decreased transferrin saturation, Anisopoiki... |
ORPHA:300298 |
Amelogenesis Imperfecta, Type Iiic |
|
Amelogenesis imperfecta, Hypocalcification of dental enamel, Anterior open-bite malocclusion, Yel... |
OMIM:618386 |
Primary Condylar Hyperplasia |
|
Abnormal mandible condylar process morphology, Anterior open-bite malocclusion, Macrodontia, Abno... |
ORPHA:477781 |
Dental Ankylosis |
|
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology |
ORPHA:1077 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:614832 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Polydactyly, High palate, Median cleft lip, Syndactyly, Cleft palate |
OMIM:300484 |
Mesomelic Dysplasia, Savarirayan Type |
|
Short tibia, Abnormal foot morphology, Hip dislocation, Talipes equinovalgus, Dislocated radial h... |
OMIM:605274 |
Oligodontia |
|
Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho... |
ORPHA:99798 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short tibia, Hypoplasia of the radius, Lytic defects of humeral diaphysis, Short femur, Hypoplasi... |
OMIM:601376 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormality of tibia m... |
ORPHA:1802 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Enamel hypoplasia, Abnormality of dental color, Amelogenesis imperfecta |
OMIM:616270 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he... |
ORPHA:3203 |
Orofaciodigital Syndrome Iv |
|
Short tibia, Lobulated tongue, High palate, Tongue nodules, Toe syndactyly, Micrognathia, Foot po... |
OMIM:258860 |
Amelogenesis Imperfecta, Type Ib |
|
Amelogenesis imperfecta |
OMIM:104500 |
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
|
Amelogenesis imperfecta |
OMIM:301201 |
Cleft Palate, Isolated |
|
Micrognathia, Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion |
OMIM:119540 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Alveolar process hypoplasia, Genu valgum, Delayed eruption of teeth, Hypodontia, Abnormality of d... |
ORPHA:2972 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A... |
ORPHA:86841 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Cirrhosis, Abnormality of iron homeostasis, Decreased liver function, Abnormality... |
ORPHA:231222 |
Amelogenesis Imperfecta, Type Ie |
|
Enamel hypoplasia, Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dentin morp... |
OMIM:301200 |
Amelogenesis Imperfecta, Type Iv |
|
Enamel hypoplasia, Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Dentin Dysplasia, Type Ii |
|
Abnormal dentin morphology, Pulp calcification, Dentinogenesis imperfecta limited to primary teeth |
OMIM:125420 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Short tibia, 11 pairs of ribs, Triphalangeal thumb, High palate, Micrognathia, Clinodactyly, Shor... |
OMIM:201170 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyserythropoietic anemia, Po... |
OMIM:224120 |
Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, Cutaneous ... |
OMIM:619217 |
Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Broad foot, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Ab... |
OMIM:135750 |
Otodental Dysplasia |
|
Enamel hypoplasia, Long philtrum, Delayed eruption of teeth, Pulp calcification, Taurodontia, Age... |
OMIM:166750 |
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Broad femoral neck, Genu valgum, Pseudoepiphyses, Widely-spaced incisors, Tapered finger, Metaphy... |
OMIM:601668 |
Dentinogenesis Imperfecta |
|
Abnormal dental root morphology, Yellow-brown discoloration of the teeth, Finger joint hypermobil... |
ORPHA:49042 |
Thrombocytopenia 7 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:619130 |
Dyschondrosteosis And Nephritis |
|
Short tibia, Radial bowing, Ulnar bowing, Short forearm |
OMIM:127350 |
Amelogenesis Imperfecta, Type Ik |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:620104 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Cleft mandible, Short tibia, Short phalanx of finger, Hip subluxation, Short 5th finger, Microgna... |
OMIM:268305 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Abnormal head movements |
OMIM:616939 |
Porphyria Cutanea Tarda |
|
Abnormal circulating porphyrin concentration, Periportal fibrosis, Decreased circulating hepcidin... |
ORPHA:101330 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Retrognathia, Wide mouth, Micrognathia, Camptodactyly, Anisocytosis, Rocker bottom foot |
OMIM:604273 |
Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
Tibial Hemimelia |
|
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... |
ORPHA:93322 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Elliptocytosis, Poikilocytosis, Anisocytosis, Macrocytic anemia, Thrombocytopenia, Neutropenia, A... |
OMIM:300835 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... |
OMIM:613673 |
Tooth Agenesis, Selective, 9 |
|
Microdontia, Taurodontia, Selective tooth agenesis |
OMIM:617275 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormality of neutrophils, Abnormal macrophage morphology |
ORPHA:2690 |
Primary Dystonia, Dyt13 Type |
|
Jerky head movements, Abnormal repetitive mannerisms |
ORPHA:98807 |
Blount Disease |
|
Tibial bowing, Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal ti... |
ORPHA:2768 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Absent tibia, Camp... |
OMIM:612576 |
Failure Of Tooth Eruption, Primary |
|
Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth |
OMIM:125350 |
Orofaciodigital Syndrome Ix |
|
Short tibia, High palate, Toe syndactyly, Camptodactyly, Hand polydactyly, Median cleft lip, Acce... |
OMIM:258865 |
Orofaciodigital Syndrome Type 2 |
|
Short tibia, Broad first metatarsal, Bifid tongue, Micrognathia, Taurodontia, Abnormal oral frenu... |
ORPHA:2751 |
Florid Cemento-Osseous Dysplasia |
|
Dental malocclusion, Oral ulcer, Abnormal mandible morphology, Abnormal number of teeth, Jaw swel... |
ORPHA:83451 |
Papular Xanthoma |
|
Histiocytosis, Hyperlipidemia |
ORPHA:158008 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Genu varum, Metaphyseal irregularity, Genu valgum, Metaphyseal sclerosis, Proximal femoral metaph... |
OMIM:156500 |
Pyle Disease |
|
Genu valgum, Mandibular prognathia, Hypoplastic frontal sinuses, Delayed eruption of teeth, Absen... |
OMIM:265900 |
Brachydactyly, Type E2 |
|
Short metacarpal, Delayed eruption of teeth, Oligodontia, Brachydactyly, Short metatarsal |
OMIM:613382 |
Faciocardiomelic Dysplasia, Lethal |
|
Retrognathia, Short 5th finger, Hypoplasia of the radius, Micrognathia, Hypoplasia of the ulna, N... |
OMIM:227270 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Poikilocytosis, Abnormal erythrocyte morphology, Anisocytosis, Gingival bleeding, Increas... |
ORPHA:98870 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... |
ORPHA:3329 |
Hemochromatosis, Type 2B |
|
Anemia, Increased serum iron, Cirrhosis, Hepatic fibrosis, Elevated transferrin saturation, Eleva... |
OMIM:613313 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal irregularity, Short lower limbs, Tibial bowing, Femoral bowing, Flared me... |
ORPHA:93356 |
Aceruloplasminemia |
|
Hepatic fibrosis, Cirrhosis, Aceruloplasminemia, Decreased circulating ceruloplasmin concentratio... |
ORPHA:48818 |
Microphthalmia With Limb Anomalies |
|
Short tibia, Toe syndactyly, Micrognathia, Hip dislocation, Postaxial hand polydactyly, Cleft pal... |
ORPHA:1106 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Patellar aplasia, Synostosis of... |
ORPHA:988 |
Weismann-Netter Syndrome |
|
Anemia, Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna, A... |
ORPHA:3344 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Hand monodactyly, Absent tibia, Bifid femur, Aplasia of the ulna, Split hand, Foot monodactyly |
OMIM:228250 |
Hemochromatosis, Neonatal |
|
Hepatic failure, Hepatic fibrosis, Abnormality of iron homeostasis, Cirrhosis, Hepatocellular nec... |
OMIM:231100 |
Bleeding Disorder, Platelet-Type, 16 |
|
Anemia, Impaired platelet aggregation, Thrombocytopenia, Giant platelets, Platelet anisocytosis, ... |
OMIM:187800 |
Gigantiform Cementoma, Familial |
|
Multiple impacted teeth, Cementoma, Tooth malposition |
OMIM:137575 |
Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Enamel hypoplasia, Genu valgum, Mandibular prognathia, High palate, Pierre-Robin sequence, Coxa v... |
OMIM:618363 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Hepatic failure, Increased total iron binding capacity, Hyperbilirubinemia, Jau... |
OMIM:616278 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Advanced pneumatization of cranial sinuses, Broad femoral head, Fibular ... |
ORPHA:85188 |
Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Anemia, Increased hepatic glycogen content, Copper accumulation in liver, Elevated hepatic iron c... |
OMIM:614946 |
Neonatal Hemochromatosis |
|
Micrognathia, Increased circulating ferritin concentration, Increased serum iron |
ORPHA:446 |
Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Patellar aplasia, Hand monodactyly, Absent tibia, Short hallux, Split foot, Split hand, Aplasia o... |
OMIM:119100 |
Acromesomelic Dysplasia 2B |
|
Short phalanx of finger, Deviation of finger, Malaligned carpal bone, Patellar dislocation, Rhizo... |
OMIM:228900 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... |
OMIM:228930 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Knee flexion contracture, Genu valgum, Rhizomelia, Micrognathia, Fragmented epiphyses, Epiphyseal... |
ORPHA:166016 |
Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume |
OMIM:615193 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Gait disturbance, Radioulnar synostosis, Abnormal palate morphology, Carious teeth, Abnormality o... |
ORPHA:3270 |
Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron, Cho... |
OMIM:603358 |
Dominant Beta-Thalassemia |
|
Genu valgum, Hypersplenism, Reduced hemoglobin A, Malar prominence, Hyperplasia of the maxilla, D... |
ORPHA:231226 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology |
ORPHA:3196 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short tibia, Rhizomelia, Short ribs, Hypoplasia of the radius, Short philtrum, Short femur, Thin ... |
OMIM:607143 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Heinz bodies, Fava bean-induced hemolytic anemia, Reticulocytosis, Poikilocytosis, Anisocytosis, ... |
OMIM:300908 |
Stuve-Wiedemann Syndrome 1 |
|
Short tibia, Short phalanx of finger, Micrognathia, Metaphyseal rarefaction, Camptodactyly, Hypop... |
OMIM:601559 |
Benign Paroxysmal Torticollis Of Infancy |
|
Abnormal head movements |
ORPHA:71518 |
Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Dental enamel pits, Carious teeth |
OMIM:619787 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... |
OMIM:212050 |
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum |
|
Alveolar process hypoplasia, Eruption failure, Genu valgum, Delayed eruption of primary teeth, Mu... |
OMIM:273050 |
Microcephaly-Micromelia Syndrome |
|
Short tibia, Absent thumb, Humeroradial synostosis, Micrognathia, Missing ribs, Absent radius, Ol... |
OMIM:251230 |
X-Linked Sideroblastic Anemia |
|
Anemia, Abnormality of iron homeostasis, Splenomegaly |
ORPHA:75563 |
Oslam Syndrome |
|
Radioulnar synostosis, Clinodactyly of the 5th finger, Abnormality of neutrophils, Carious teeth,... |
ORPHA:2760 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:619271 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Short tibia, Lobulated tongue, Bifid tongue, Rhizomelia, Natal tooth, Short ribs, Short long bone... |
OMIM:616300 |
Short Rib-Polydactyly Syndrome |
|
Short tibia, Polydactyly, Abnormal pelvis bone ossification, Limb undergrowth, Cleft palate, Orof... |
ORPHA:1505 |
Impacted Teeth, Multiple |
|
Multiple impacted teeth, Supernumerary tooth |
OMIM:308280 |
Mesomelic Dysplasia, Savarirayan Type |
|
Metatarsus valgus, Broad tibial metaphyses, Flared radial metaphysis, Hip dislocation, Narrow ili... |
ORPHA:85170 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Hypertriglyceridemia |
OMIM:608898 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Camptodactyly of finger, Enamel hypoplasia, Hypodontia, Plantar hyperkeratosis, Oral mucosal blis... |
OMIM:226650 |
Otodental Syndrome |
|
Abnormal molar morphology, Odontoma, Long philtrum, Periodontitis, Delayed eruption of teeth, Pul... |
ORPHA:2791 |
Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia, Hyperkalemia |
OMIM:141000 |
Eiken Syndrome |
|
Pseudoepiphyses, Narrow pelvis bone, Flattened epiphysis, Delayed epiphyseal ossification, Erupti... |
OMIM:600002 |
Hemochromatosis, Type 3 |
|
Anemia, Cirrhosis, Elevated transferrin saturation, Elevated hepatic transaminase, Lymphopenia, I... |
OMIM:604250 |
Eiken Syndrome |
|
Short phalanx of finger, Broad foot, Short toe, Metaphyseal irregularity, Abnormal fingertip morp... |
ORPHA:79106 |
Rh Deficiency Syndrome |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Anisocytosis, Macrocytic a... |
ORPHA:71275 |
Orotic Aciduria |
|
Pyrimidine-responsive megaloblastic anemia, Poikilocytosis, Anisocytosis, Folate-unresponsive meg... |
OMIM:258900 |
Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... |
ORPHA:2378 |
Weismann-Netter Syndrome |
|
Anterior tibial bowing, Lateral femoral bowing, Delayed eruption of permanent teeth, Fibular bowi... |
OMIM:112350 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Micrognathia, Multiple unerupted teeth, Crowded maxillary incisors |
OMIM:183300 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Dental malocclusion, Mandibular prognathia, Short first metatarsal, Natal tooth, Short 1st metaca... |
OMIM:601957 |
Atelosteogenesis Type Iii |
|
Short tibia, High palate, Patellar dislocation, Short tubular bones of the hand, Vertebral hypopl... |
ORPHA:56305 |
Slc35A2-Cdg |
|
Short tibia, Camptodactyly of finger, Hip subluxation, Coxa valga, Abnormal long bone morphology,... |
ORPHA:356961 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Advanced eruption of teeth, Abnormality of dental morphology, Everted ... |
ORPHA:1028 |
Sea-Blue Histiocyte Disease |
|
Elevated circulating alanine aminotransferase concentration, Sea-blue histiocytosis, Cirrhosis, E... |
OMIM:269600 |
Van Der Woude Syndrome 2 |
|
Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate |
OMIM:606713 |
Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Long philtrum, Coxa vara, Micrognathia, Hip dysplasia, Preaxial ... |
ORPHA:1988 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal cupping, Coxa vara, Rhizomelia, Radial bowing, Flared iliac wing, Ulnar b... |
OMIM:602111 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Elliptocytosis, Poikilocytosis, Decreased mean corpuscular volume, Anisocytosis |
OMIM:616959 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Short phalanx of finger, Short metatarsal, Long philtrum, Avascular necrosis of the capital femor... |
OMIM:190351 |
Eem Syndrome |
|
Finger syndactyly, Selective tooth agenesis, Widely spaced teeth, Microdontia, Abnormality of den... |
ORPHA:1897 |
Hemochromatosis Type 2 |
|
Abnormality of endocrine pancreas physiology, Abnormality of iron homeostasis, Elevated transferr... |
ORPHA:79230 |
Acheiropodia |
|
Aplasia of the ulna, Upper limb phocomelia, Absent radius, Abnormal metaphysis morphology, Abnorm... |
ORPHA:931 |
Rubinstein-Taybi Syndrome 2 |
|
Retrognathia, Dental malocclusion, Talon cusp, Short 5th toe, Narrow palate, High palate, Short f... |
OMIM:613684 |
Fragile X Syndrome |
|
Recurrent hand flapping, Abnormal head movements |
OMIM:300624 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cleft upper lip, Bifid tongue, Cone-shaped epiphysis, Postaxial polydactyly, Short ribs, Short lo... |
OMIM:613091 |
Metaphyseal Acroscyphodysplasia |
|
Short phalanx of finger, Short toe, Genu varum, Metaphyseal cupping, Coxa valga, Short metacarpal... |
OMIM:250215 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Dental malocclusion, Metaphyseal irregularity, Metaphyseal cupping, Coxa vara, Rhizomelia, Short ... |
OMIM:608940 |
Shox-Related Short Stature |
|
Genu valgum, High palate, Micrognathia, Lower limb undergrowth, Ulnar radial head dislocation, Fo... |
ORPHA:314795 |
Thrombocythemia 1 |
|
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... |
OMIM:187950 |
Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia |
OMIM:615328 |
Orofaciodigital Syndrome X |
|
Retrognathia, Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Cleft pa... |
OMIM:165590 |
Idiopathic Copper-Associated Cirrhosis |
|
Cirrhosis, Decreased circulating ceruloplasmin concentration, Increased circulating copper concen... |
ORPHA:209919 |
Grant Syndrome |
|
Micrognathia, Down-sloping shoulders, Tibial bowing |
OMIM:138930 |
Ocular Motor Apraxia |
|
Jerky head movements |
OMIM:257550 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Distal foot symphalangism, Short phalanx of finger, Absent trapezoid bone, Microdontia, Pulp calc... |
OMIM:606895 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Short phalanx of finger, Toe syndactyly, Micrognathia, Flared iliac wing, Aplasia/hypoplasia of t... |
OMIM:609945 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Brachydactyly, Fibular apl... |
OMIM:113310 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Patellar hypoplasia, Preaxial foot polydactyly, Absent tibia, Mirror image foot polydactyly, Bila... |
OMIM:119800 |
Beta-Thalassemia |
|
Anemia, Abnormality of iron homeostasis, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Mic... |
ORPHA:848 |
Episodic Ataxia Type 4 |
|
Abnormal head movements |
ORPHA:79136 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Aplasia of the maxilla, Agenesis of lateral incisor, Selective tooth agenesis, Hypodontia, Anodon... |
OMIM:313500 |
Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Coxa valga, Patellar dislocation, Finger syndactyly, Tibial torsion, Micrognathia, Hi... |
ORPHA:3320 |
Guanidinoacetate Methyltransferase Deficiency |
|
Abnormal head movements |
ORPHA:382 |
Asplenia, Isolated Congenital |
|
Asplenia, Howell-Jolly bodies, Thrombocytosis |
OMIM:271400 |
Cleft Lip/Palate |
|
Dental malocclusion, Abnormal number of permanent teeth, Unilateral cleft palate, Agenesis of lat... |
ORPHA:199306 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Synostosis of carpal bones, Ulnar deviation of finger, Hypoplasia of the ulna, Abnormal morpholog... |
ORPHA:2634 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short phalanx of finger, Short metacarpal, Widely spaced teeth, Angel-shaped phalanx, Flat acetab... |
OMIM:617102 |
Ophthalmomandibulomelic Dysplasia |
|
Coxa valga, Temporomandibular joint ankylosis, Radial bowing, Lateral humeral condyle aplasia, Me... |
OMIM:164900 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Shoulder dislocation, Genu varum, Aplasia/Hypoplasia of the thumb, Long philtrum, Asymmetric radi... |
OMIM:171480 |
Atelosteogenesis, Type Iii |
|
Rhizomelia, Micrognathia, Radial bowing, Talipes equinovarus, Flat acetabular roof, Hitchhiker th... |
OMIM:108721 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Hip dislocation, Metatarsal synostosis, 2-3 toe cutaneous syndactyly, Postaxial h... |
OMIM:206920 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Jerky head movements |
ORPHA:251282 |
Hemochromatosis, Type 4 |
|
Anemia, Cirrhosis, Elevated transferrin saturation, Hepatic steatosis, Increased circulating ferr... |
OMIM:606069 |
Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
Bent Bone Dysplasia Syndrome 2 |
|
Short tibia, Short sternum, Hypoplastic iliac wing, Hypoplastic acetabulae, Short 1st metacarpal,... |
OMIM:620076 |
Omodysplasia 1 |
|
Short tibia, Limited knee flexion/extension, Anterolateral radial head dislocation, Long philtrum... |
OMIM:258315 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal circulating phytanic acid concentration, Very long chain fatty acid accumulation, Abnorm... |
ORPHA:247815 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short tibia, Hypoplastic pubic bone, Natal tooth, Short ribs, Short long bone, Micrognathia, Prea... |
OMIM:617925 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Acromesomelic Dysplasia 3 |
|
Aplasia of the proximal phalanx of the 2nd finger, Broad foot, Short phalanx of finger, Short toe... |
OMIM:609441 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Anisop... |
OMIM:616689 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, Splenomegal... |
OMIM:612690 |
Albers-Schönberg Osteopetrosis |
|
Genu valgum, Anemia, Abnormal metacarpal morphology, Mandibular osteomyelitis, Short distal phala... |
ORPHA:53 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Genu varum, Genu valgum, Metaphyseal irregularity, Bulging epiphyses, Rickets of the lower limbs,... |
OMIM:600785 |
Osteopetrosis, Autosomal Recessive 2 |
|
Genu valgum, Mandibular prognathia, Anemia, Pancytopenia, Hepatosplenomegaly, Diaphyseal sclerosi... |
OMIM:259710 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short tibia, Coxa valga, Micrognathia, Epiphyseal stippling, Camptodactyly, Metatarsus adductus, ... |
ORPHA:96334 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Genu varum, Genu valgum, Coxa valga, Carious teeth, Hypoplasia of teeth |
OMIM:613312 |
Dyggve-Melchior-Clausen Disease |
|
Broad foot, Hypoplastic facial bones, Camptodactyly, Flat glenoid fossa, Narrow greater sciatic n... |
OMIM:223800 |
Liver Disease, Severe Congenital |
|
Elevated hepatic transaminase, Portal inflammation, Elevated circulating alpha-fetoprotein concen... |
OMIM:619991 |
Amelocerebrohypohidrotic Syndrome |
|
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color, Yellow-b... |
ORPHA:1946 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
Jalili Syndrome |
|
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology |
ORPHA:1873 |
Craniometadiaphyseal Dysplasia |
|
Genu varum, Genu valgum, Mandibular prognathia, High palate, Coxa valga, Natal tooth, Absent para... |
OMIM:269300 |
Seckel Syndrome 1 |
|
11 pairs of ribs, Enamel hypoplasia, Dental malocclusion, High palate, Selective tooth agenesis, ... |
OMIM:210600 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental malocclusion, Long philtrum, Macrodontia of permanent maxillary central incisor, Delayed e... |
OMIM:257850 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Hypoplasia of the zygomatic bone, Micrognathia, Carious teeth, Supernumerary tooth |
ORPHA:3145 |
Acromelic Frontonasal Dysostosis |
|
Short tibia, Polydactyly, Cleft upper lip, Patellar hypoplasia, Preaxial foot polydactyly, Syndac... |
OMIM:603671 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Disproportionate shortening of the tibia, Preaxial hand polydactyly, Postaxial polysyndactyly of ... |
OMIM:263520 |
Hemochromatosis, Type 2A |
|
Cirrhosis, Increased serum iron, Increased circulating ferritin concentration, Hepatomegaly, Sple... |
OMIM:602390 |
Cleidocranial Dysplasia 2 |
|
Genu valgum, Coxa valga, Delayed eruption of primary teeth, Aplastic clavicle, Delayed ossificati... |
OMIM:620099 |
Cleidocranial Dysplasia |
|
Tapered finger, Delayed eruption of teeth, Micrognathia, Hypoplastic inferior ilia, Cleft palate,... |
ORPHA:1452 |
Jeavons Syndrome |
|
Abnormal head movements |
ORPHA:139431 |
Huntington Disease-Like 1 |
|
Jerky head movements, Abnormal head movements |
ORPHA:157941 |
Acro-Renal-Mandibular Syndrome |
|
Aplasia/Hypoplasia of the tongue, High palate, Finger syndactyly, Hypoplasia of the radius, Micro... |
ORPHA:958 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Elliptocytosis, Reticulocytosis, Hepatosplenomegaly, Poikilocytosis, Anisocytos... |
OMIM:618278 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Ankyloglossia, Supernumerary tooth |
OMIM:106280 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Radioulnar synostosis, Microretrognathia, Abnormal pelvic girdle bone morpholo... |
ORPHA:1788 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Trapezoidal distal femoral condyles, Metaphyseal irregularity, Genu... |
OMIM:307800 |
Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Cirrhosis, Increased total iron binding capacity, Unconjugated hyperbilirubine... |
OMIM:613280 |
Pycnodysostosis |
|
Narrow palate, Delayed eruption of primary teeth, Aplastic clavicle, Micrognathia, Hypodontia, Ab... |
OMIM:265800 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Radial bowing, Micrognathia, Lower limb undergrowth, Abnormality of the lower limb, Abnormality o... |
ORPHA:3035 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Jerky head movements |
ORPHA:240103 |
Aceruloplasminemia |
|
Anemia, Decreased serum iron, Aceruloplasminemia, Increased circulating ferritin concentration |
OMIM:604290 |
Omodysplasia 2 |
|
Rhizomelic arm shortening, Broad femoral neck, Long philtrum, Short 1st metacarpal, Bilateral cle... |
OMIM:164745 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Cirrhosis, Microvesicular hepatic steatosis, Hepatomegaly, Elevated hepatic iron concentration |
OMIM:300868 |
Mucopolysaccharidosis Type 4 |
|
Genu valgum, Coxa valga, Wide mouth, Grayish enamel, Gait disturbance, Abnormal dental enamel mor... |
ORPHA:582 |
Kenny-Caffey Syndrome, Type 1 |
|
Anemia, Small hand, Short foot, Calvarial osteosclerosis, Slender long bone, Carious teeth, Short... |
OMIM:244460 |
Ameloonychohypohidrotic Syndrome |
|
Marked delay in eruption of permanent teeth, Hypocalcification of dental enamel, Yellow-brown dis... |
OMIM:104570 |
Atelosteogenesis, Type I |
|
Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Limb undergrowth, Cleft p... |
OMIM:108720 |
Kyphomelic Dysplasia |
|
Cleft upper lip, Short metacarpal, Micrognathia, Radial bowing, Flat acetabular roof, Ulnar bowin... |
OMIM:211350 |
Saul-Wilson Syndrome |
|
Coxa valga, Short metacarpal, Enlarged epiphyses, Micrognathia, Hypoplasia of the odontoid proces... |
OMIM:618150 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Jerky head movements |
OMIM:245348 |
Fibrochondrogenesis 1 |
|
Dumbbell-shaped long bone, Long philtrum, Short foot, Short ribs, Rhizomelia, Short long bone, Sm... |
OMIM:228520 |
Congenital Erythropoietic Porphyria |
|
Leukopenia, Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosi... |
ORPHA:79277 |
Beta-Thalassemia Major |
|
Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decrea... |
ORPHA:231214 |
Huntington Disease-Like 3 |
|
Abnormal head movements |
ORPHA:157946 |
Sandifer Syndrome |
|
Anemia, Abnormal head movements |
ORPHA:71272 |
Camurati-Engelmann Disease |
|
Coxa valga, Delayed eruption of teeth, Cortical thickening of long bone diaphyses, Splenomegaly, ... |
ORPHA:1328 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Repetitive compulsive behavior, Abnormal repetitive mannerisms, Compulsive behaviors |
ORPHA:352490 |
Foxg1 Syndrome |
|
Abnormal repetitive mannerisms, Bruxism, Stereotypical hand wringing |
ORPHA:561854 |
Childhood Absence Epilepsy |
|
Jerky head movements, Punding |
ORPHA:64280 |
New-Onset Refractory Status Epilepticus |
|
Abnormal head movements |
ORPHA:363558 |
Thrombocytopenia-Absent Radius Syndrome |
|
Short phalanx of finger, Absent thumb, Coxa valga, Patellar dislocation, Micrognathia, Hip disloc... |
OMIM:274000 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Enamel hypoplasia, Hyperphosphatemia, Calcinosis, Pulp calcification, Taurodontia |
OMIM:211900 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Retrognathia, Mandibular prognathia, Decreased serum iron, Downturned corners of mouth, Open mout... |
ORPHA:391372 |
Orofaciodigital Syndrome Vi |
|
Toe syndactyly, Micrognathia, Short femur, Radial deviation of finger, Postaxial hand polydactyly... |
OMIM:277170 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Aplasia/Hypoplasia of the mandible, Femoral bowing, Metaphyseal chondrodysplasia, Fibular bowing,... |
ORPHA:85165 |
Phocomelia, Schinzel Type |
|
Foot oligodactyly, Humeroradial synostosis, Hypoplasia of the radius, Micrognathia, Radial bowing... |
ORPHA:2879 |
Rothmund-Thomson Syndrome |
|
Broad ulna, Anemia, Neutropenia, Selective tooth agenesis, Delayed eruption of teeth, Microdontia... |
ORPHA:2909 |
Camurati-Engelmann Disease |
|
Genu valgum, Mandibular prognathia, Anemia, Cortical thickening of long bone diaphyses, Diaphysea... |
OMIM:131300 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Hyperalaninemia, Acute hyperammonemia, Abnormal repetitive mannerisms, Hyperammonemia, Hepatomega... |
ORPHA:927 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Cirrhosis, Abnormality of iron homeostasis, Elevated transferrin saturation, Hepatocellular carci... |
ORPHA:465508 |
Occipital Horn Syndrome |
|
Genu valgum, Humerus varus, Coxa valga, Long philtrum, Avascular necrosis of the capital femoral ... |
ORPHA:198 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Abnormal repetitive mannerisms |
ORPHA:280763 |
Acromelic Frontonasal Dysplasia |
|
Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Wide mouth, Preaxial foot polydactyly, Medi... |
ORPHA:1827 |
Schneckenbecken Dysplasia |
|
Dumbbell-shaped long bone, Hypoplastic ilia, Abnormal metaphysis morphology, Short ribs, Diaphyse... |
ORPHA:3144 |
Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Hypoplastic frontal sinuses, Micrognathia, Flared iliac wing, Short hall... |
ORPHA:90652 |
Acrorenal-Mandibular Syndrome |
|
High palate, Narrow palate, Toe syndactyly, Micrognathia, Foot polydactyly, Hypoplasia of the rad... |
OMIM:200980 |
Ogden Syndrome |
|
Abnormal head movements |
ORPHA:276432 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Splenomegaly, Increased total iron binding capacity, Hyperglycinemia, Abnormality of the liver, J... |
ORPHA:309854 |
Cousin Syndrome |
|
2-3 toe syndactyly, Humeroradial synostosis, Micrognathia, Camptodactyly, Dislocated radial head,... |
OMIM:260660 |
Orofaciodigital Syndrome Type 4 |
|
Camptodactyly of finger, Micrognathia, Bifid uvula, Abnormal oral frenulum morphology, Median cle... |
ORPHA:2753 |
Mesomelia-Synostoses Syndrome |
|
Short phalanx of finger, Progressive forearm bowing, Tarsometatarsal synostosis, Micrognathia, Ca... |
OMIM:600383 |
Campomelic Dysplasia |
|
Irregular dentition, Short phalanx of finger, Hallux valgus, Micrognathia, Hip dislocation, Metat... |
OMIM:114290 |
Campomelic Dysplasia |
|
11 pairs of ribs, Short long bone, Hypoplastic inferior ilia, Micrognathia, Hip dislocation, Femo... |
ORPHA:140 |
Cystinosis |
|
Portal hypertension, Hypokalemia, Hypophosphatemia, Abnormal repetitive mannerisms |
ORPHA:213 |
Hydrolethalus Syndrome 1 |
|
Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Proximal tibial hypoplasia, Medi... |
OMIM:236680 |
Craniosynostosis With Fibular Aplasia |
|
Fibular aplasia |
OMIM:218550 |
Behavioral Variant Of Frontotemporal Dementia |
|
Collectionism, Abnormal repetitive mannerisms |
ORPHA:275864 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Abnormal repetitive mannerisms |
ORPHA:85277 |
Boomerang Dysplasia |
|
Hypoplastic iliac body, Fibular aplasia, Absent radius |
OMIM:112310 |
Trichohepatoenteric Syndrome 1 |
|
Hypermethioninemia, Increased serum iron, Abnormality of iron homeostasis, Long philtrum, Wide mo... |
OMIM:222470 |
Kinsship Syndrome |
|
Polydactyly, Mandibular prognathia, Coxa valga, Wide mouth, Widely spaced teeth, Thick lower lip ... |
OMIM:619297 |
Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Amelogenesis imperfecta, Abnormalit... |
ORPHA:1031 |
Osteopathia Striata With Cranial Sclerosis |
|
Paranasal sinus hypoplasia, Dental malocclusion, Cleft upper lip, Pierre-Robin sequence, High pal... |
OMIM:300373 |
Christianson Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:85278 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:411986 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Anemia, Ankyloglossia, Decreased plasma carnitine, Decreased serum iron, Narrow mouth, Carious te... |
ORPHA:89842 |
Cranioectodermal Dysplasia 1 |
|
Microdontia, Everted lower lip vermilion, Radial deviation of finger, Flattened epiphysis, Short ... |
OMIM:218330 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Lymphopenia, Abnormal repetitive mannerisms |
ORPHA:391307 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Humeroradial synostosis, Aplasia/hypoplasia of the femur, Hip dislocation, Phocomelia, Aplasia/Hy... |
OMIM:276820 |
Macrocephaly-Developmental Delay Syndrome |
|
Abnormal repetitive mannerisms, Hepatosplenomegaly |
ORPHA:397612 |
Hydroxykynureninuria |
|
Abnormal circulating tryptophan concentration, Abnormal repetitive mannerisms |
ORPHA:79155 |
5Q14.3 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:228384 |
Rett Syndrome |
|
Stereotypical hand wringing, Abnormal repetitive mannerisms, Cholecystitis, Hyperammonemia, Incre... |
ORPHA:778 |
Bilateral Generalized Polymicrogyria |
|
Abnormal repetitive mannerisms |
ORPHA:208447 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Jerky head movements, Hypertriglyceridemia, Hypercalcemia |
ORPHA:369837 |
Yunis-Varon Syndrome |
|
Aplasia of the 1st metacarpal, Absent thumb, Aplasia of the distal phalanges of the hand, Tapered... |
ORPHA:3472 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Short phalanx of finger, Hypoplastic iliac wing, Metaphyseal irregularity, Short ribs, Foot polyd... |
OMIM:208500 |
4Q21 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:238750 |
Hemochromatosis, Type 1 |
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Splenomegaly, Increased circulating ferritin concentration, Increased serum iron |
OMIM:235200 |
Alazami Syndrome |
|
Abnormal repetitive mannerisms, Stereotypical hand wringing |
ORPHA:319671 |
Childhood Disintegrative Disorder |
|
Abnormal repetitive mannerisms |
ORPHA:168782 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Abnormal repetitive mannerisms |
ORPHA:79264 |
48,Xxyy Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:10 |
Otopalatodigital Syndrome, Type Ii |
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Toe syndactyly, Micrognathia, Broad hallux, Short hallux, Postaxial hand polydactyly, Cleft palat... |
OMIM:304120 |
Transketolase Deficiency |
|
Elevated circulating ribitol concentration, Hepatomegaly, Abnormal repetitive mannerisms, Compuls... |
ORPHA:488618 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
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Thrombocytopenia, High nonceruloplasmin-bound serum copper, Abnormal repetitive mannerisms |
ORPHA:457351 |
2Q23.1 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:228402 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:457240 |
Developmental And Speech Delay Due To Sox5 Deficiency |
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Abnormal repetitive mannerisms |
ORPHA:313892 |
Syndromic Diarrhea |
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Hepatic fibrosis, Cirrhosis, Hypoplasia of the thymus, Abnormality of iron homeostasis, Abnormali... |
ORPHA:84064 |
Singleton-Merten Syndrome 1 |
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Osteolytic defects of the phalanges of the hand, Hip subluxation, Eruption failure, Genu valgum, ... |
OMIM:182250 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:3306 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
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Abnormal repetitive mannerisms |
ORPHA:500159 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Abnormal repetitive mannerisms, Hypercholesterolemia |
ORPHA:819 |
Lamb-Shaffer Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:530983 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:529965 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
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Hypercalcemia, Abnormal repetitive mannerisms, Compulsive behaviors |
ORPHA:476126 |
Trichohepatoenteric Syndrome 2 |
|
Decreased serum iron |
OMIM:614602 |
22Q11.2 Duplication Syndrome |
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Abnormal repetitive mannerisms, Compulsive behaviors |
ORPHA:1727 |
Paroxysmal Nocturnal Hemoglobinuria |
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Reduced haptoglobin level, Leukopenia, Anemia, Hemolytic anemia, Unconjugated hyperbilirubinemia,... |
ORPHA:447 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:572013 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Abnormal repetitive mannerisms, Obsessive-compulsive trait |
ORPHA:168491 |
Megalocornea-Intellectual Disability Syndrome |
|
Abnormal repetitive mannerisms, Hypercholesterolemia |
ORPHA:2479 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Abnormal repetitive mannerisms |
ORPHA:261144 |
Lacrimoauriculodentodigital Syndrome 1 |
|
2-3 finger syndactyly, Microdontia, Radial deviation of the 3rd finger, Broad hallux, Absent prox... |
OMIM:149730 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hypereosinophilia, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Lymphopenia, ... |
ORPHA:508533 |
Ulbright-Hodes Syndrome |
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Short sternum, High palate, Humeroradial synostosis, Short ribs, Short metacarpal, Micrognathia, ... |
ORPHA:3404 |
Charge Syndrome |
|
Cleft upper lip, Hand monodactyly, Bilateral talipes equinovarus, Micrognathia, Absent tibia, Han... |
OMIM:214800 |
2Q37 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms, Compulsive behaviors |
ORPHA:1001 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Recurrent hand flapping, Abnormal repetitive mannerisms |
ORPHA:449291 |
3P25.3 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:435638 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Abnormal repetitive mannerisms, Elevated circulating creatine kinase concentration |
ORPHA:496641 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Abnormal repetitive mannerisms |
ORPHA:300570 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Abnormal repetitive mannerisms |
ORPHA:98784 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:457279 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:261197 |
White-Sutton Syndrome |
|
Abnormal repetitive mannerisms, Compulsive behaviors |
ORPHA:468678 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hip subluxation, High palate, Long philtrum, Small hand, Micrognathia, Macroglossia, Thin upper l... |
ORPHA:444077 |
Kleefstra Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:261494 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hypercholesterolemia, Anemia, Hypophosphatemia, Hypokalemia, Abnormal repetitive mannerisms, Comp... |
ORPHA:534 |
Prader-Willi Syndrome Due To Translocation |
|
Head-banging, Abnormal repetitive mannerisms, Compulsive behaviors |
ORPHA:177907 |
7Q11.23 Microduplication Syndrome |
|
Collectionism, Abnormal repetitive mannerisms |
ORPHA:96121 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Repetitive compulsive behavior, Abnormal repetitive mannerisms |
ORPHA:522077 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Exocrine pancreatic insufficiency, Abnormal repetitive mannerisms |
ORPHA:508498 |
Wiedemann-Steiner Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:319182 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Abnormal repetitive mannerisms |
ORPHA:464311 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Abnormal repetitive mannerisms |
ORPHA:468631 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:464306 |
Mucopolysaccharidosis Type 2 |
|
Splenomegaly, Abnormal repetitive mannerisms, Hepatomegaly |
ORPHA:580 |
1P36 Deletion Syndrome |
|
Abnormality of the liver, Abnormal repetitive mannerisms, Hepatic steatosis, Annular pancreas, Ab... |
ORPHA:1606 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Stereotypical body rocking, Repetitive compulsive behavior, Abnormal repetitive mannerisms |
ORPHA:513456 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Retrognathia, Anemia, Decreased serum iron, Deep philtrum |
ORPHA:438213 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:447997 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Abnormal repetitive mannerisms, Compulsive behaviors |
ORPHA:353281 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Abnormal repetitive mannerisms, Compulsive behaviors |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Abnormal repetitive mannerisms, Compulsive behaviors |
ORPHA:353277 |
Nmda Receptor Encephalitis |
|
Abnormal repetitive mannerisms |
ORPHA:217253 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Asplenia, Abnormal repetitive mannerisms, Bruxism |
ORPHA:261537 |
Mowat-Wilson Syndrome |
|
Asplenia, Abnormal repetitive mannerisms, Bruxism |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Asplenia, Abnormal repetitive mannerisms, Bruxism |
ORPHA:261552 |
Norrie Disease |
|
Abnormal repetitive mannerisms |
ORPHA:649 |
L-Ferritin Deficiency |
|
Decreased circulating ferritin concentration |
OMIM:615604 |
Neuroferritinopathy |
|
Difficulty walking |
ORPHA:157846 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Choreoathetosis, Ataxia |
OMIM:606159 |
Hyperferritinemia With Or Without Cataract |
|
Increased circulating ferritin concentration |
OMIM:600886 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
|
ORPHA:163 |