Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
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Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... |
OMIM:204700 |
Syndactyly Type 4 |
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Toe syndactyly, 6 metacarpals, Foot polydactyly, Triphalangeal thumb, Hand polydactyly, 1-5 finge... |
ORPHA:93405 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
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Short 4th metacarpal, Epiphyseal stippling, Micromelia, Malar flattening, Limb undergrowth, Short... |
OMIM:118651 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
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Chorea, Involuntary movements, Abnormal head movements |
OMIM:616939 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Amelogenesis imperfecta, Carious teeth |
OMIM:615887 |
Regional Odontodysplasia |
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Dental enamel pits, Pulp calcification, Abnormal dentin morphology, Multiple unerupted teeth, Ena... |
ORPHA:83450 |
Amelogenesis Imperfecta, Type Ij |
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Amelogenesis imperfecta, Enamel hypoplasia, Carious teeth, Widely spaced teeth, Increased overbite |
OMIM:617297 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
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Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Conjugated hyperb... |
OMIM:616860 |
Amelogenesis Imperfecta |
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Multiple unerupted teeth, Enamel hypomineralization, Enamel hypoplasia, Widely spaced teeth, Impa... |
ORPHA:88661 |
Acromesomelic Dysplasia 2C |
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Acromesomelia, Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Fibular... |
OMIM:201250 |
Acromesomelic Dysplasia 2A |
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Acromesomelia, Pes valgus, Valgus hand deformity, Hypoplasia of the ulna, Fibular hypoplasia, Sho... |
OMIM:200700 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
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Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization |
OMIM:613211 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
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Anemia of inadequate production, Oval macrocytosis, Anisocytosis, Poikilocytosis |
OMIM:603529 |
Lethal Faciocardiomelic Dysplasia |
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Narrow mouth, Hypoplasia of the ulna, Fibular hypoplasia, Radial club hand, Sandal gap, Short 5th... |
ORPHA:1972 |
Metaphyseal Chondrodysplasia, Spahr Type |
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Bowing of the long bones, Genu varum, Abnormality of epiphysis morphology, Abnormality of the den... |
ORPHA:2501 |
Dentin Dysplasia, Type I |
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Microdontia, Dentinogenesis imperfecta limited to primary teeth, Abnormality of dental morphology... |
OMIM:125400 |
Acrocapitofemoral Dysplasia |
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Small finger, Genu varum, Delayed ossification of carpal bones, Cone-shaped metacarpal epiphyses,... |
OMIM:607778 |
Osebold-Remondini Syndrome |
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Broad toe, Carpal synostosis, Hypoplasia of the ulna, Bipartite calcaneus, Fibular hypoplasia, Ty... |
OMIM:112910 |
Langer Mesomelic Dysplasia |
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Rudimentary fibula, Hypoplasia of the ulna, Short femoral neck, Hypoplasia of the radius, Microgn... |
OMIM:249700 |
Anonychia-Microcephaly Syndrome |
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Clinodactyly of the 5th finger, Carious teeth, Abnormality of the dentition |
ORPHA:1094 |
Acromesomelic Dysplasia, Grebe Type |
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Brachydactyly, Bowing of the long bones, Synostosis of carpal bones, Fibular hypoplasia, Aplasia/... |
ORPHA:2098 |
Anemia, Congenital Dyserythropoietic, Type Ia |
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Poikilocytosis, Splenomegaly, Anisocytosis, Erythroid hyperplasia, Reticulocytosis, Anemia of ina... |
OMIM:224120 |
Taurodontism, Microdontia, And Dens Invaginatus |
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Dens in dente, Microdontia, Taurodontia, Pulp calcification |
OMIM:313490 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
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Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology |
OMIM:612529 |
Anemia, Congenital Dyserythropoietic, Type Ib |
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Splenomegaly, Anisocytosis, Anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate ... |
OMIM:615631 |
Amelogenesis Imperfecta, Type Iiib |
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Amelogenesis imperfecta, Enamel hypomineralization |
OMIM:617607 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
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Hand oligodactyly, Tibial bowing, Foot oligodactyly, Fibular aplasia, Short tibia, Syndactyly |
OMIM:246570 |
Leri-Weill Dyschondrosteosis |
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High palate, Dorsal subluxation of ulna, Hypoplasia of the ulna, Coxa valga, Abnormal femoral nec... |
OMIM:127300 |
Primary Dystonia, Dyt13 Type |
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Action tremor, Motor stereotypy, Involuntary movements, Torticollis, Postural tremor, Jerky head ... |
ORPHA:98807 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
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Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization |
OMIM:617217 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
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Absent tibia, Triphalangeal thumb, Preaxial polydactyly, Short tibia, Fibular duplication |
OMIM:188740 |
Fibular Hemimelia |
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Fibular hypoplasia, Limited knee flexion/extension, Short tibia, Short toe, Increased laxity of a... |
ORPHA:93323 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anisocytosis, Reduced red cell pyruvate kinase level, Anemia, Chronic hemolytic ane... |
ORPHA:766 |
Dentinogenesis Imperfecta, Shields Type Iii |
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Dental enamel pits, Odontodysplasia, Anterior open-bite malocclusion, Periapical bone loss, Denti... |
OMIM:125500 |
Acheiropody |
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Aplasia of the phalanges of the hand, Absent radius, Peromelia, Aplasia of the tarsal bones, Abse... |
OMIM:200500 |
Carabelli Anomaly Of Maxillary Molar Teeth |
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Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar |
OMIM:114700 |
Amelogenesis Imperfecta, Type Iiia |
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Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion |
OMIM:130900 |
Gracile Syndrome |
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Increased circulating ferritin concentration, Hepatic steatosis, Cholestasis, Elevated hepatic ir... |
ORPHA:53693 |
Amelogenesis Imperfecta, Type Ie |
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Amelogenesis imperfecta, Microdontia, Anterior open-bite malocclusion, Enamel hypoplasia |
OMIM:301200 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
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Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... |
ORPHA:67044 |
Aceruloplasminemia |
|
Increased circulating ferritin concentration, Parkinsonism, Decreased serum iron, Blepharospasm, ... |
ORPHA:48818 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
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Absent thumb, Narrow mouth, Hypoplasia of the ulna, Fibular hypoplasia, Short tibia, Thin vermili... |
OMIM:612447 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
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Hypoplasia of the radius, Pseudoarthrosis, Short tibia |
OMIM:156230 |
Orofaciodigital Syndrome Type 10 |
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Accessory oral frenulum, Hypoplasia of proximal radius, Long philtrum, Cleft soft palate, Preaxia... |
ORPHA:2756 |
Iron Overload In Africa |
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Elevated transferrin saturation |
OMIM:601195 |
Dens In Dente And Palatal Invaginations |
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Dens in dente, Abnormality of the dentition |
OMIM:125300 |
Dens Evaginatus |
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Abnormality of the dentition, Talon cusp |
OMIM:125280 |
Gollop-Wolfgang Complex |
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Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the ulna, Hand ... |
ORPHA:1986 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
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Increased circulating ferritin concentration, Hepatosplenomegaly, Decreased mean corpuscular volu... |
ORPHA:300298 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
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Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Anisocytosis, Neutrope... |
OMIM:300835 |
Amelogenesis Imperfecta, Type Ih |
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Dental enamel pits, Amelogenesis imperfecta, Enamel hypoplasia, Yellow-brown discoloration of the... |
OMIM:616221 |
Léri-Weill Dyschondrosteosis |
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Abnormal hip bone morphology, Genu varum, Abnormality of the ulna, Clinodactyly of the 5th finger... |
ORPHA:240 |
Oligodontia |
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Agenesis of first permanent molar tooth, Agenesis of central incisor, Microdontia, Widely spaced ... |
ORPHA:99798 |
Autosomal Dominant Spastic Ataxia Type 1 |
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Hypertonia, Spastic gait, Spastic dysarthria, Spastic paraplegia, Lower limb spasticity, Limb ata... |
ORPHA:251282 |
Iron-Refractory Iron Deficiency Anemia |
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Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia |
OMIM:206200 |
Primary Condylar Hyperplasia |
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Macrodontia, Abnormal mandible condylar process morphology, Anterior open-bite malocclusion, Abno... |
ORPHA:477781 |
African Iron Overload |
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Increased circulating ferritin concentration, Viral hepatitis, Hepatic steatosis, Hepatic bridgin... |
ORPHA:139507 |
Amelogenesis Imperfecta, Type Ic |
|
Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Anterior open-bite malocclusion... |
OMIM:204650 |
Amelogenesis Imperfecta, Type Iiic |
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Hypocalcification of dental enamel, Amelogenesis imperfecta, Anterior open-bite malocclusion, Yel... |
OMIM:618386 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
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Hypoplasia of the ulna, Fibular hypoplasia, Hypoplasia of the radius, Lytic defects of humeral di... |
OMIM:601376 |
Dental Ankylosis |
|
Tooth agenesis, Abnormal dental enamel morphology, Mandibular prognathia |
ORPHA:1077 |
Orofaciodigital Syndrome Viii |
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High palate, Polydactyly, Short tibia, Cleft palate, Median cleft lip, Syndactyly |
OMIM:300484 |
Amelogenesis Imperfecta, Type Ia |
|
Amelogenesis imperfecta, Taurodontia, Generalized microdontia |
OMIM:104530 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
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Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia |
OMIM:614832 |
Mesomelic Dysplasia, Savarirayan Type |
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Dislocated radial head, Abnormal foot morphology, Fibular aplasia, Talipes equinovalgus, Short ti... |
OMIM:605274 |
Ghosal Hematodiaphyseal Dysplasia |
|
Bowing of the long bones, Abnormality of pelvic girdle bone morphology, Craniofacial hyperostosis... |
ORPHA:1802 |
Overhydrated Hereditary Stomatocytosis |
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Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... |
ORPHA:3203 |
Amelogenesis Imperfecta, Type Ib |
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Amelogenesis imperfecta |
OMIM:104500 |
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
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Amelogenesis imperfecta |
OMIM:301201 |
Cleft Palate, Isolated |
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Micrognathia, Anterior open-bite malocclusion, Increased overbite, Cleft palate, Gingival overgrowth |
OMIM:119540 |
Amelogenesis Imperfecta, Type If |
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Dental enamel pits, Amelogenesis imperfecta, Abnormality of dental color, Enamel hypoplasia |
OMIM:616270 |
Orofaciodigital Syndrome Iv |
|
Brachydactyly, Clinodactyly, Toe syndactyly, Accessory oral frenulum, Foot polydactyly, High pala... |
OMIM:258860 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Abnormality of the liver, Hepatosplenomegaly, Leukocytosis, Decreased liver funct... |
ORPHA:231222 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
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Leukopenia, Thrombocytosis, Acute myeloid leukemia, Anisocytosis, Abnormality of neutrophil morph... |
ORPHA:86841 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Narrow mouth, Clinodactyly, High palate, Short philtrum, Fibular hypoplasia, 11 pairs of ribs, Tr... |
OMIM:201170 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
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Delayed eruption of teeth, Maxillozygomatic hypoplasia, Alveolar process hypoplasia, Hypodontia, ... |
ORPHA:2972 |
Amelogenesis Imperfecta, Type Iv |
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Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth, Enamel hypoplasia |
OMIM:104510 |
Dentin Dysplasia, Type Ii |
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Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification |
OMIM:125420 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Abnormal pyramidal sign, Frequent falls, Apraxia, Involuntary movements, Bradykinesia, Limb aprax... |
ORPHA:240103 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal pyramidal sign, Abnormal circulating phytanic acid concentration, Progressive cerebellar... |
ORPHA:247815 |
Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Ataxia, Abnormal head movements |
ORPHA:71518 |
Endove Syndrome, Limb-Only Type |
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Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, 3-4 finger... |
OMIM:619217 |
Laurin-Sandrow Syndrome |
|
Absent radius, Absent tibia, Triphalangeal thumb, Hand polydactyly, Broad foot, Fibular duplicati... |
OMIM:135750 |
Dentinogenesis Imperfecta |
|
Finger joint hypermobility, Knee joint hypermobility, Abnormal dental pulp morphology, Odontodysp... |
ORPHA:49042 |
Otodental Dysplasia |
|
Tooth ankylosis, Long philtrum, Delayed eruption of teeth, Enamel hypoplasia, Pulp calcification,... |
OMIM:166750 |
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Widely-spaced incisors, Narrow iliac wing, Slender finger, Flattened epiphysis, Metaphyseal irreg... |
OMIM:601668 |
Thrombocytopenia 7 |
|
Impaired ADP-induced platelet aggregation, Impaired arachidonic acid-induced platelet aggregation... |
OMIM:619130 |
Porphyria Cutanea Tarda |
|
Increased circulating ferritin concentration, Viral hepatitis, Hepatic steatosis, Periportal fibr... |
ORPHA:101330 |
Dyschondrosteosis And Nephritis |
|
Ulnar bowing, Radial bowing, Short tibia, Short forearm |
OMIM:127350 |
Tibial Hemimelia |
|
Radial club hand, Mesomelic leg shortening, Short tibia, Increased laxity of ankles, Hip dysplasi... |
ORPHA:93322 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Bifid uvula, Cleft mandible, Fibular hypoplasia, Clinodactyly of the 5th finger, Short thumb, Cle... |
OMIM:268305 |
Fused Mandibular Incisors |
|
Abnormality of the dentition, Advanced eruption of teeth |
ORPHA:2287 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... |
OMIM:613673 |
Stuve-Wiedemann Syndrome 1 |
|
Talipes, Smooth tongue, Micrognathia, Short tibia, Bowing of the long bones, Metaphyseal rarefact... |
OMIM:601559 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormality of neutrophils, Abnormal macrophage morphology |
ORPHA:2690 |
Florid Cemento-Osseous Dysplasia |
|
Abnormality of the maxilla, Abnormality of primary teeth, Jaw swelling, Supernumerary tooth, Abno... |
ORPHA:83451 |
Faciocardiomelic Dysplasia, Lethal |
|
Narrow mouth, Hypoplasia of the ulna, Talipes, Fibular hypoplasia, Short 5th finger, Hypoplasia o... |
OMIM:227270 |
Tooth Agenesis, Selective, 7 |
|
Agenesis of permanent teeth, Taurodontia |
OMIM:616724 |
Episodic Ataxia Type 4 |
|
Incoordination, Ataxia, Frequent falls, Abnormal head movements |
ORPHA:79136 |
Failure Of Tooth Eruption, Primary |
|
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth |
OMIM:125350 |
Hypermanganesemia With Dystonia 1 |
|
Abnormality of extrapyramidal motor function, Parkinsonism, Polycythemia, Spastic paraparesis, Br... |
OMIM:613280 |
Pyle Disease |
|
Absent paranasal sinuses, Hypoplastic frontal sinuses, Delayed eruption of teeth, Carious teeth, ... |
OMIM:265900 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Oral cavity bleeding, Gingival bleeding, Anisocytosis, Anemia, Increased mean corpuscular volume,... |
ORPHA:98870 |
Orofaciodigital Syndrome Type 2 |
|
Broad first metatarsal, Agenesis of central incisor, Mesomelic leg shortening, Micrognathia, Hama... |
ORPHA:2751 |
Blount Disease |
|
Abnormality of the proximal tibial epiphysis, Tibial bowing, Abnormality of the knee, Abnormality... |
ORPHA:2768 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Genu varum, Enlargement of the proximal femoral epiphysis, Broad middle phalanx of finger, Metaph... |
OMIM:156500 |
Orofaciodigital Syndrome Ix |
|
Accessory oral frenulum, Toe syndactyly, High palate, Hand polydactyly, Short tibia, Abnormality ... |
OMIM:258865 |
Huntington Disease-Like 1 |
|
Incoordination, Simultanapraxia, Dysmetria, Frequent falls, Involuntary movements, Bradykinesia, ... |
ORPHA:157941 |
Brachydactyly, Type E2 |
|
Brachydactyly, Delayed eruption of teeth, Short metacarpal, Oligodontia, Short metatarsal |
OMIM:613382 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Advanced ossification of carpal bones, Flattened epiphysis, Amelogenesis imperfecta, Pierre-Robin... |
OMIM:618363 |
Aceruloplasminemia |
|
Increased circulating ferritin concentration, Decreased serum iron, Blepharospasm, Aceruloplasmin... |
OMIM:604290 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Brachydactyly, Finger syndactyly, Fibular hypoplasia, Split hand, Abnormality of fibula morpholog... |
ORPHA:3329 |
Hemochromatosis, Type 2B |
|
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Elevated transferrin sa... |
OMIM:613313 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth |
ORPHA:2027 |
Dentin Dysplasia |
|
Abnormality of dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Synostosis of carpal bones, Aplasia/Hypoplasia of the thumb, Abnormality of fibula morphology, Ap... |
ORPHA:988 |
Ocular Motor Apraxia |
|
Oculomotor apraxia, Jerky head movements |
OMIM:257550 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Absent tibia, Foot monodactyly, Bifid femur, Aplasia of the ulna, Split hand, Hand monodactyly |
OMIM:228250 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Hepatic failure, Cholestasis, Hepatocellular necros... |
OMIM:231100 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal irregularity, Flattened epiphysis, Knee osteoarthritis, Tibial bowing, Fl... |
ORPHA:93356 |
Gigantiform Cementoma, Familial |
|
Cementoma, Multiple impacted teeth, Tooth malposition |
OMIM:137575 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Brachydactyly, Flat capital femoral epiphysis, Irregular epiphyses, Flattened epiphysis, Prominen... |
OMIM:601560 |
Bleeding Disorder, Platelet-Type, 16 |
|
Impaired platelet aggregation, Macrothrombocytopenia, Platelet anisocytosis, Giant platelets, Ane... |
OMIM:187800 |
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet |
|
Enamel hypoplasia, Clinodactyly of the 5th finger, Preaxial polydactyly, Carious teeth, Micrognat... |
OMIM:129540 |
Huntington Disease-Like 3 |
|
Abnormal pyramidal sign, Extrapyramidal dyskinesia, Extrapyramidal muscular rigidity, Spasticity,... |
ORPHA:157946 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic failure, Portal hypertension, Increased serum bile acid concentration, Splenomegaly, Hepa... |
OMIM:616278 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of the ulna, Tibial bowing, A... |
ORPHA:3344 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Aplasia of the 3rd finger, Absent tibia, Short hallux, Aplasia/Hypoplasia of the ulna, Split hand... |
OMIM:119100 |
Pycnodysostosis |
|
Brachydactyly, Abnormality of pelvic girdle bone morphology, Persistence of primary teeth, Osteol... |
OMIM:265800 |
Microphthalmia With Limb Anomalies |
|
Abnormal thumb morphology, Long philtrum, Hypoplasia of the premaxilla, Fibular hypoplasia, Sanda... |
ORPHA:1106 |
Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
Microcephaly-Micromelia Syndrome |
|
Narrow mouth, Absent radius, Oligodactyly, Micrognathia, Micromelia, Short tibia, Humeroradial sy... |
OMIM:251230 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Upper limb metaphyseal widening, Advanced pneumatization of cranial sinuses, Flared femoral metap... |
ORPHA:85188 |
Acromesomelic Dysplasia 2B |
|
Brachydactyly, Deformed tarsal bones, Deviation of finger, Fibular hypoplasia, Rhizomelia, Short ... |
OMIM:228900 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Clinodactyly, Aplasia/Hypoplasia of the 5th finger, Hypoplastic iliac wing, Aplasia/Hypoplasia of... |
OMIM:228930 |
Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Increased serum iron, Micrognathia |
ORPHA:446 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Brachydactyly, Flattened epiphysis, Fibular hypoplasia, Dislocated radial head, Rhizomelia, Micro... |
ORPHA:166016 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Fava bean-induced hemolytic anemia, Leukocytosis, Anisocytosis, Splenomegaly, Heinz bodies, Retic... |
OMIM:300908 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Abnormal dental enamel morphology, Enamel hypoplasia, Supernumerary tooth |
ORPHA:3196 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short philtrum, Short ribs, Sandal gap, Rhizomelia, Hypoplasia of the radius, Short tibia, Short ... |
OMIM:607143 |
Teeth, Supernumerary |
|
Supernumerary tooth, Mesiodens |
OMIM:187100 |
Rubinstein-Taybi Syndrome 2 |
|
High palate, Carious teeth, Broad hallux, Micrognathia, Increased overbite, Retrognathia, Broad t... |
OMIM:613684 |
Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume |
OMIM:615193 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Oral mucosal blisters, Abnormal foot morphology, Hypodontia, Carious teeth, Plantar hyperkeratosi... |
OMIM:226650 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron, Cho... |
OMIM:603358 |
Dominant Beta-Thalassemia |
|
Bowing of the long bones, Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration... |
ORPHA:231226 |
Short Rib-Polydactyly Syndrome |
|
Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, Cone-shaped epiphy... |
ORPHA:1505 |
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum |
|
Multiple non-erupting secondary teeth, Alveolar process hypoplasia, Maxillozygomatic hypoplasia, ... |
OMIM:273050 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Flat capital femoral epiphysis, High palate, Wide capital femoral epiphyses, Patellar hypoplasia,... |
OMIM:147891 |
Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
X-Linked Sideroblastic Anemia |
|
Anemia, Splenomegaly, Abnormality of iron homeostasis |
ORPHA:75563 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Ataxia, Oculomotor apraxia, Choreoathetosis, Jerky head movements |
OMIM:245348 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Imp... |
OMIM:619271 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis, Anemia, Hypertriglyceridemia |
OMIM:608898 |
Eiken Syndrome |
|
Clinodactyly, Delayed ossification of carpal bones, Fibular hypoplasia, Broad femoral neck, Multi... |
OMIM:600002 |
Guanidinoacetate Methyltransferase Deficiency |
|
Athetosis, Ataxia, Progressive extrapyramidal movement disorder, Chorea, Abnormal head movements,... |
ORPHA:382 |
Mesomelic Dysplasia, Savarirayan Type |
|
Flared radial metaphysis, Narrow iliac wing, Broad tibial metaphyses, Hypoplasia of proximal radi... |
ORPHA:85170 |
Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Neutropenia, Anemi... |
OMIM:604250 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia |
OMIM:269600 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Abnormal palate morphology, Carious teeth, Radioulnar synostosis, Gait disturbance, Abnormality o... |
ORPHA:3270 |
Eiken Syndrome |
|
Metaphyseal irregularity, Abnormal fingertip morphology, Short palm, Delayed epiphyseal ossificat... |
ORPHA:79106 |
Otodental Syndrome |
|
Abnormality of the maxilla, Long philtrum, Gingival overgrowth, Pulp calcification, Delayed erupt... |
ORPHA:2791 |
Atelosteogenesis Type Iii |
|
High palate, Vertebral hypoplasia, Absent humerus, Absent radius, Epiphyseal stippling of the hum... |
ORPHA:56305 |
Hypophosphatasia, Childhood |
|
Bowing of the legs, Carious teeth, Premature loss of primary teeth, Waddling gait |
OMIM:241510 |
Developmental And Epileptic Encephalopathy 97 |
|
Stereotypical hand wringing, Tremor |
OMIM:619561 |
Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Hyperkalemia, Thrombocytopenia |
OMIM:141000 |
Laurin-Sandrow Syndrome |
|
Toe syndactyly, Talipes, Finger syndactyly, Absent radius, Absent tibia, Mirror image polydactyly... |
ORPHA:2378 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Micrognathia, Multiple unerupted teeth |
OMIM:183300 |
Oslam Syndrome |
|
Clinodactyly of the 5th finger, Carious teeth, Abnormality of neutrophils, Radioulnar synostosis,... |
ORPHA:2760 |
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly |
|
Brachydactyly, Short proximal phalanx of finger, Short metacarpal, Oligodontia, Microdontia, Supe... |
OMIM:191482 |
Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia |
OMIM:615328 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Brachydactyly, Short distal phalanx of toe, Natal tooth, Short distal phalanx of finger, Short 1s... |
OMIM:601957 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Anemia, Elliptocytosis, Decreased mean corpuscular volume, Poikilocytosis |
OMIM:616959 |
Orotic Aciduria |
|
Folate-unresponsive megaloblastic anemia, Hypochromia, Anisocytosis, Pyrimidine-responsive megalo... |
OMIM:258900 |
Rh Deficiency Syndrome |
|
Macrocytic anemia, Hepatosplenomegaly, Anisocytosis, Spherocytosis, Hemolytic anemia, Stomatocyto... |
ORPHA:71275 |
Weismann-Netter Syndrome |
|
Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Delayed eruption of permanen... |
OMIM:112350 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Flattened epiphysis, Flared iliac wing, Rhizomelia, Tibial bowing, Metaphyseal cuppin... |
OMIM:602111 |
Eem Syndrome |
|
Finger syndactyly, Microdontia, Widely spaced teeth, Carious teeth, Ectrodactyly, Abnormality of ... |
ORPHA:1897 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Everted lower lip vermilion, Yellow-brown discoloration of the teeth, ... |
ORPHA:1028 |
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:603641 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Brachydactyly, Coxa magna, Cone-shaped epiphyses of the middle phalanges of the hand, Short palm,... |
OMIM:190351 |
Acheiropodia |
|
Abnormality of epiphysis morphology, Absent radius, Aplasia of the ulna, Fibular aplasia, Abnorma... |
ORPHA:931 |
Femoral-Facial Syndrome |
|
Abnormality of pelvic girdle bone morphology, Long philtrum, Preaxial foot polydactyly, Abnormali... |
ORPHA:1988 |
Slc35A2-Cdg |
|
Aplasia/hypoplasia involving bones of the extremities, Coxa valga, Abnormality of long bone morph... |
ORPHA:356961 |
Hemochromatosis Type 2 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... |
ORPHA:79230 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Carious teeth, Enamel hypoplasia |
OMIM:614564 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Brachydactyly, Hypoplasia of the ulna, Short long bone, Cleft upper lip, Fibular hypoplasia, Shor... |
OMIM:613091 |
Cleft Lip/Palate |
|
Abnormal number of permanent teeth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral in... |
ORPHA:199306 |
Metaphyseal Acroscyphodysplasia |
|
Brachydactyly, Genu varum, Cone-shaped metacarpal epiphyses, Coxa valga, Short palm, Cone-shaped ... |
OMIM:250215 |
Thrombocythemia 1 |
|
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... |
OMIM:187950 |
Shox-Related Short Stature |
|
High palate, Ulnar radial head dislocation, Tibial bowing, Micrognathia, Lower limb undergrowth, ... |
ORPHA:314795 |
Orofaciodigital Syndrome X |
|
Hand oligodactyly, Coalescence of tarsal bones, Preaxial hand polydactyly, Fibular aplasia, Retro... |
OMIM:165590 |
Hydrocephalus With Associated Malformations |
|
Abnormal foot morphology, Tibial bowing, Micrognathia, Lower limb undergrowth, Short lower limbs |
OMIM:236640 |
Ulnar/Fibular Ray Defect And Brachydactyly |
|
Brachydactyly, Toe syndactyly, Bilateral talipes equinovarus, Unilateral ulnar hypoplasia, Fibula... |
OMIM:608571 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Cone-shaped epiphyses of the middle phalanges of the hand, Absent trapezoid bone, Pulp calcificat... |
OMIM:606895 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Brachydactyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Short metacarpal, Rhizomelia,... |
OMIM:608940 |
Fragile X Syndrome |
|
Abnormal head movements, Recurrent hand flapping |
OMIM:300624 |
Acromesomelic Dysplasia 3 |
|
Brachydactyly, Carpal synostosis, Hypoplasia of the ulna, Widened proximal tibial metaphyses, Apl... |
OMIM:609441 |
Beta-Thalassemia |
|
Microcytic anemia, Splenomegaly, Abnormality of iron homeostasis, Anemia, Abnormal hemoglobin, Th... |
ORPHA:848 |
Grant Syndrome |
|
Tibial bowing, Down-sloping shoulders, Micrognathia |
OMIM:138930 |
Jalili Syndrome |
|
Amelogenesis imperfecta, Carious teeth |
OMIM:217080 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Fibular aplasia, Split ... |
OMIM:113310 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Carious teeth, Oral mucosal blisters, Enamel hypoplasia |
ORPHA:79406 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Poor coordination, Recurrent hand flapping |
OMIM:309548 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Fibular hypoplasia, Mesomelic leg shortening, Micrognathia, Hypoplastic iliac wing, Short toe, Ha... |
OMIM:609945 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Diaphyseal sclerosis, Hepatosplenomegaly, Persistence of primary teeth, Carious tee... |
OMIM:259710 |
Fraxe Intellectual Disability |
|
Stereotypical body rocking, Clumsiness, Recurrent hand flapping |
ORPHA:100973 |
Ophthalmomandibulomelic Dysplasia |
|
Coxa valga, Temporomandibular joint ankylosis, Fibular hypoplasia, Ulnar deviated club hands, Lat... |
OMIM:164900 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Bilateral talipes equinovarus, Median cleft palate, Patellar hypoplasia, Absent tibia, Talipes eq... |
OMIM:119800 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, High palate, Cleft upper lip, Hand oligodactyly, Postaxial foot polydactyly, Fibu... |
OMIM:206920 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Sandal gap, Short metacarpal, ... |
OMIM:617102 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Oligodontia, Hypodontia, Agenesis of premolar, Selective tooth agenesis, Aplasia of the maxilla, ... |
OMIM:313500 |
Asplenia, Isolated Congenital |
|
Thrombocytosis, Howell-Jolly bodies, Asplenia |
OMIM:271400 |
Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Coxa valga, Phocomelia, Absent radius, Finger syndactyly, Clinodactyly of the 5th fin... |
ORPHA:3320 |
Tibia, Absence Of, With Congenital Deafness |
|
Absent tibia |
OMIM:275230 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Genu varum, Coxa valga, Carious teeth, Hypoplasia of teeth, Genu valgum |
OMIM:613312 |
Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta |
OMIM:125490 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Synostosis of carpal bones, Abnormality of the ulna, Hypoplasia of the ulna, Fibular hypoplasia, ... |
ORPHA:2634 |
Atelosteogenesis, Type Iii |
|
Hitchhiker thumb, Widened distal phalanges, Sandal gap, Rhizomelia, Tibial bowing, Micrognathia, ... |
OMIM:108721 |
Idiopathic Copper-Associated Cirrhosis |
|
Cirrhosis, Hepatic steatosis, Copper accumulation in liver, Increased circulating copper concentr... |
ORPHA:209919 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Hypoplastic pubic bone, Short long bone, Fibular hypoplasia, Short ribs, Preaxial polydactyly, Mi... |
OMIM:617925 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Decreased serum iron, Hypereosinophilia |
OMIM:212050 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Genu varum, Shoulder dislocation, Phocomelia, Absent radius, Fibular hypoplasia, Aplasia/Hypoplas... |
OMIM:171480 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Carious teeth, Palmoplantar keratoderma, Premature loss of teeth |
OMIM:161000 |
Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Hepatic steatosis, Hepatomegaly, Elevated transferr... |
OMIM:606069 |
Omodysplasia 1 |
|
Long philtrum, Fibular hypoplasia, Rhizomelia, Increased fibular diameter, Limited knee flexion, ... |
OMIM:258315 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Hypoplastic anemia, Splenomegaly, Ataxia, Abnormali... |
ORPHA:2585 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Action tremor, Decreased circulating ferritin concentration, Increased total iron binding capacit... |
ORPHA:309854 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Jeavons Syndrome |
|
Limb myoclonus, Abnormal head movements |
ORPHA:139431 |
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Stereotypical hand wringing, Spasticity |
ORPHA:500545 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Stereotypical hand wringing, Hyperkinetic movements |
ORPHA:397933 |
Albers-Schönberg Osteopetrosis |
|
Abnormality of epiphysis morphology, Carious teeth, Abnormal leukocyte morphology, Anemia, Short ... |
ORPHA:53 |
Dyggve-Melchior-Clausen Disease |
|
Genu varum, Pes planus, Clinodactyly of the 5th finger, Rhizomelic arm shortening, Hypoplastic il... |
OMIM:223800 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Abnormal distal phalanx morphology of finger, Long philtrum, Metaphyseal spurs, Tented upper lip ... |
ORPHA:96334 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bowing of the long bones, Genu varum, Bulging epiphyses, Metaphyseal irregularity, Tibial bowing,... |
OMIM:600785 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Lower limb spasticity, Hepatomegaly, Elevated hepatic iron concentration, Spasticity, Cirrhosis, ... |
OMIM:300868 |
Craniometadiaphyseal Dysplasia |
|
Genu varum, Absent paranasal sinuses, High palate, Coxa valga, Microdontia, Carious teeth, Flared... |
OMIM:269300 |
Ulna And Fibula, Hypoplasia Of |
|
Hypoplasia of the ulna, Fibular hypoplasia |
OMIM:191400 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Stereotypical hand wringing, Chorea |
OMIM:618760 |
Seckel Syndrome 1 |
|
Pancytopenia, High palate, Dental malocclusion, Hypoplasia of proximal radius, Talipes, Enamel hy... |
OMIM:210600 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
Copper Deficiency, Familial Benign |
|
Anemia, Decreased circulating copper concentration, Abnormal circulating copper concentration |
OMIM:121270 |
Amelocerebrohypohidrotic Syndrome |
|
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color, Yellow-b... |
ORPHA:1946 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Narrow mouth, 2-4 toe cutaneous syndactyly, Long philtrum, Delayed eruption of teeth, 4-5 finger ... |
OMIM:257850 |
Jalili Syndrome |
|
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color |
ORPHA:1873 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Brachydactyly, Disproportionate shortening of the tibia, Short ribs, Postaxial polysyndactyly of ... |
OMIM:263520 |
Hemochromatosis, Type 2A |
|
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Cirrhosis, Increased se... |
OMIM:602390 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Gait ataxia, Poor coordination, Recurrent hand flapping |
OMIM:619717 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Bowing of the legs, Metaphyseal irregularity, Abnormality of pelvic girdle bone morphology, Trape... |
OMIM:307800 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Leukocytosis, Anisocytosis, Chronic hemolytic anemia, Hemolytic anemia, Ellip... |
OMIM:618278 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome |
|
Carious teeth, Hypoplasia of the zygomatic bone, Micrognathia, Supernumerary tooth |
ORPHA:3145 |
Foxg1 Syndrome |
|
Choreoathetosis, Motor stereotypy, Stereotypical hand wringing, Spasticity, Hyperkinetic movement... |
ORPHA:561854 |
Atypical Rett Syndrome |
|
Pill-rolling tremor, Apraxia, Stereotypical hand wringing, Involuntary movements, Gait ataxia, To... |
ORPHA:3095 |
Cleidocranial Dysplasia |
|
Abnormal thumb morphology, Open bite, Clinodactyly of the 5th finger, Tapered finger, Micrognathi... |
ORPHA:1452 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Hypertonia, Hypoproteinemia, Hyponatremia, Leukopen... |
OMIM:267700 |
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis |
|
Shovel-shaped maxillary central incisors, Dental crowding, Increased overbite, Enamel hypoplasia |
OMIM:600907 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Progressive spastic paraplegia, Motor stereotypy, Spastic dysarthria, Spasticity, Babinski sign |
ORPHA:280763 |
Trichorhinophalangeal Syndrome, Type I |
|
Flat capital femoral epiphysis, Coxa magna, Cone-shaped epiphyses of the middle phalanges of the ... |
OMIM:190350 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Bowing of the long bones, Abnormality of fibula morphology, Tibial bowing, Splenomegaly, Microgna... |
ORPHA:3035 |
Orofaciodigital Syndrome Type 5 |
|
Accessory oral frenulum, Bifid uvula, Postaxial foot polydactyly, Enamel hypoplasia, Non-midline ... |
ORPHA:2919 |
Acro-Renal-Mandibular Syndrome |
|
Rudimentary fibula, Aplasia/Hypoplasia of the tongue, High palate, Hypoplasia of the ulna, Finger... |
ORPHA:958 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Abnormality of pelvic girdle bone morphology, Finger syndactyly, Hand oligodactyly, Fibular hypop... |
ORPHA:1788 |
Leber Congenital Amaurosis 1 |
|
Eye poking, Hyperthreoninemia, Hepatomegaly |
OMIM:204000 |
Sandifer Syndrome |
|
Torticollis, Anemia, Abnormal head movements |
ORPHA:71272 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Spasticity, Chorea, Motor stereotypy |
ORPHA:88616 |
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis |
|
Absent ossification of capital femoral epiphysis, High palate, Narrow mouth, Tibial bowing, Deep ... |
OMIM:245160 |
Vitamin D-Dependent Rickets, Type 2A |
|
Enlargement of the ankles, Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Delay... |
OMIM:277440 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
Brachymesomelia-Renal Syndrome |
|
Fibular hypoplasia, Hypoplasia of the radius, Micrognathia, Ulnar bowing, Mesomelic arm shortening |
OMIM:113470 |
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies |
|
Cleft upper lip, Postaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus... |
OMIM:601027 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Repetitive compulsive behavior, Motor stereotypy, Cerebral palsy, Spasticity, Hypertonia |
ORPHA:352490 |
Caffey Disease |
|
Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones |
OMIM:114000 |
Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Tibial bowing, Femoral bowing |
OMIM:166740 |
Mucopolysaccharidosis Type 4 |
|
Bowing of the long bones, Coxa valga, Abnormality of epiphysis morphology, Carious teeth, Abnorma... |
ORPHA:582 |
Otopalatodigital Syndrome, Type Ii |
|
Short thumb, Micrognathia, Bulbous tips of toes, Cleft palate, Narrow mouth, Irregular metacarpal... |
OMIM:304120 |
Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... |
OMIM:104570 |
Atelosteogenesis, Type I |
|
Vertebral hypoplasia, Talipes, 11 pairs of ribs, Micrognathia, Cleft palate, Brachydactyly, Malar... |
OMIM:108720 |
Kenny-Caffey Syndrome, Type 1 |
|
Short palm, Carious teeth, Anemia, Small hand, Slender long bone, Calvarial osteosclerosis, Short... |
OMIM:244460 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Motor stereotypy, Hepatomegaly, Ataxia, Hyperglutaminemia, Paraplegia, Acute hyperammonemia, Hype... |
ORPHA:927 |
Developmental And Epileptic Encephalopathy 26 |
|
Stereotypical hand wringing |
OMIM:616056 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Clinodactyly of the 5th finger, Cone-shaped epiphysis, Microdontia, Hypoplastic iliac wing, Short... |
OMIM:210720 |
Behavioral Variant Of Frontotemporal Dementia |
|
Upper motor neuron dysfunction, Fasciculations, Abnormality of extrapyramidal motor function, Mot... |
ORPHA:275864 |
Childhood Absence Epilepsy |
|
Punding, Limb myoclonus, Jerky head movements |
ORPHA:64280 |
Fibrochondrogenesis 1 |
|
Narrow mouth, Hypoplastic ischia, Short palm, Long philtrum, Fibular hypoplasia, Posterior verteb... |
OMIM:228520 |
Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Carpal synostosis, Clinodactyly of the 5th finger, Micrognathia, Anemia, Patellar dis... |
OMIM:274000 |
Dysostosis, Stanescu Type |
|
Bowing of the long bones, Brachydactyly, Abnormal palate morphology, Abnormality of epiphysis mor... |
ORPHA:1798 |
Kyphomelic Dysplasia |
|
Cleft upper lip, Short metacarpal, Tibial bowing, Dumbbell-shaped humerus, Micrognathia, Micromel... |
OMIM:211350 |
Congenital Erythropoietic Porphyria |
|
Erythrodontia, Leukopenia, Anisocytosis, Splenomegaly, Erythroid hyperplasia, Hemolytic anemia, R... |
ORPHA:79277 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Enamel hypoplasia, Pulp calcification, Calcinosis, Hyperphosphatemia, Taurodontia |
OMIM:211900 |
Beta-Thalassemia Major |
|
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Persistenc... |
ORPHA:231214 |
Cousin Syndrome |
|
Hypoplastic ischia, Toe syndactyly, Hypoplastic pubic bone, 4-5 toe syndactyly, 2-3 toe syndactyl... |
OMIM:260660 |
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Spasticity, Recurrent hand flapping |
OMIM:618859 |
Camurati-Engelmann Disease |
|
Abnormality of the ulna, Craniofacial osteosclerosis, Pes planus, Anemia, Abnormality of the hume... |
ORPHA:1328 |
Ogden Syndrome |
|
Torticollis, Abnormal head movements, Hypertonia |
ORPHA:276432 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Decreased serum iron, Open mouth, Retrognathia, Mandibular prognathia, Downturned corners of mout... |
ORPHA:391372 |
New-Onset Refractory Status Epilepticus |
|
Abnormal head movements |
ORPHA:363558 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Talipes, Hand oligodactyly, Aplasia/Hypoplasia involving the pelvis, Hy... |
ORPHA:2879 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Gait ataxia, Stereotypical hand wringing, Spasticity, Chorea |
OMIM:618917 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Tremor, Poor coordination, Recurrent hand flapping |
ORPHA:544254 |
Cystinosis |
|
Abnormal pyramidal sign, Hypokalemia, Portal hypertension, Motor stereotypy, Hypophosphatemia |
ORPHA:213 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Parkinsonism, Myoclonic spasms, Motor stereotypy, Poor motor coordination, Clumsiness, Poor fine ... |
ORPHA:79264 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Tibial bowing, Metaphyseal chondrodysplasia, Aplasia/Hypoplasia of the mandible, Fibular bowing, ... |
ORPHA:85165 |
Camurati-Engelmann Disease |
|
Diaphyseal sclerosis, Carious teeth, Anemia, Mandibular prognathia, Cortical thickening of long b... |
OMIM:131300 |
Bilateral Generalized Polymicrogyria |
|
Eyelid myoclonus, Spastic tetraplegia, Motor stereotypy, Paroxysmal dyskinesia, Spasticity |
ORPHA:208447 |
Rothmund-Thomson Syndrome |
|
Hypoplasia of the ulna, Leukemia, Delayed eruption of teeth, Microdontia, Short thumb, Metaphysea... |
ORPHA:2909 |
Christianson Syndrome |
|
Gait ataxia, Truncal ataxia, Motor stereotypy |
ORPHA:85278 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Tetraparesis, Motor stereotypy |
ORPHA:85277 |
Rett Syndrome |
|
Motor stereotypy, Stereotypical hand wringing, Cholecystitis, Increased serum pyruvate, Bradykine... |
ORPHA:778 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Increased circulating ferritin concentration, Portal hypertension, Cirrhosis, Cholangiocarcinoma,... |
ORPHA:465508 |
Rothmund-Thomson Syndrome Type 2 |
|
Genu varum, Finger symphalangism, Metaphyseal sclerosis, Microdontia, Anemia, Plantar hyperkerato... |
ORPHA:221016 |
Rothmund-Thomson Syndrome Type 1 |
|
Genu varum, Finger symphalangism, Metaphyseal sclerosis, Microdontia, Anemia, Plantar hyperkerato... |
ORPHA:221008 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Upper limb spasticity, Tremor, Hyperkinetic movements, Motor stereotypy |
ORPHA:457240 |
Leber Congenital Amaurosis 2 |
|
Eye poking |
OMIM:204100 |
Melnick-Needles Syndrome |
|
Coxa valga, Delayed eruption of teeth, Pes planus, Cone-shaped epiphyses of the phalanges of the ... |
OMIM:309350 |
Campomelic Dysplasia |
|
Narrow iliac wing, Absent sternal ossification, Long philtrum, Fibular hypoplasia, Pes planus, 11... |
OMIM:114290 |
Developmental And Epileptic Encephalopathy 87 |
|
Hypertonia, Recurrent hand flapping |
OMIM:618916 |
Otopalatodigital Syndrome Type 2 |
|
Carpal synostosis, Short thumb, Micrognathia, Cleft palate, Synostosis of carpal bones, Bowing of... |
ORPHA:90652 |
Schneckenbecken Dysplasia |
|
Advanced tarsal ossification, Hypoplastic vertebral bodies, Fibular hypoplasia, Short ribs, Incre... |
ORPHA:3144 |
Cdkl5-Deficiency Disorder |
|
Stereotypical hand wringing |
ORPHA:505652 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Upper limb undergrowth, Duplication of phalanx of hallux, Micrognathia, Proxima... |
OMIM:236680 |
Acrorenal-Mandibular Syndrome |
|
Rudimentary fibula, Toe syndactyly, High palate, Missing ribs, Foot polydactyly, Hypoplasia of th... |
OMIM:200980 |
Occipital Horn Syndrome |
|
Brachydactyly, Coxa valga, Short palm, Long philtrum, Absent tibia, Pes planus, Aplastic clavicle... |
ORPHA:198 |
Hydroxykynureninuria |
|
Abnormal circulating tryptophan concentration, Hypertonia, Motor stereotypy |
ORPHA:79155 |
Dilated Cardiomyopathy With Ataxia |
|
Microvesicular hepatic steatosis, Repetitive compulsive behavior, Action tremor, Normochromic mic... |
ORPHA:66634 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Myoclonus, Motor stereotypy |
ORPHA:411986 |
Acromelic Frontonasal Dysplasia |
|
Median cleft palate, Patellar hypoplasia, Aplasia/Hypoplasia of the tibia, Wide mouth, Talipes eq... |
ORPHA:1827 |
Campomelic Dysplasia |
|
Bowing of the long bones, Hypoplastic inferior ilia, Fibular hypoplasia, 11 pairs of ribs, Tibial... |
ORPHA:140 |
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Recurrent hand flapping |
OMIM:617268 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Eyelid myoclonus, Spasticity, Chorea, Motor stereotypy |
ORPHA:178469 |
Orofaciodigital Syndrome Type 4 |
|
Genu varum, Bifid uvula, Abnormality of the tongue, Micrognathia, High, narrow palate, Micromelia... |
ORPHA:2753 |
Cranioectodermal Dysplasia 1 |
|
Clinodactyly, Fibular hypoplasia, Everted lower lip vermilion, Widely spaced teeth, Microdontia, ... |
OMIM:218330 |
Corneodermatoosseous Syndrome |
|
Brachydactyly, Palmoplantar keratoderma, Short palm, Carious teeth, Abnormal dental enamel morpho... |
ORPHA:3194 |
Craniosynostosis With Fibular Aplasia |
|
Fibular aplasia |
OMIM:218550 |
Trichohepatoenteric Syndrome 1 |
|
Narrow mouth, Bifid uvula, Long philtrum, Thrombocytosis, Hypermethioninemia, Abnormality of iron... |
OMIM:222470 |
4Q21 Microdeletion Syndrome |
|
Tremor, Motor stereotypy |
ORPHA:238750 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Stereotypical hand wringing, Myoclonus, Hypertonia |
ORPHA:289266 |
Microphthalmia-Brain Atrophy Syndrome |
|
Tongue thrusting, Spasticity |
ORPHA:77299 |
Camptodactyly Syndrome, Guadalajara, Type I |
|
Bifid uvula, Fibular hypoplasia, Abnormality of dental eruption, Twelfth rib hypoplasia, Hypoplas... |
OMIM:211910 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Oral leukoplakia, Carious teeth, Ataxia, Thrombocytopenia, Anemia, Aplastic anemia, Premature los... |
OMIM:127550 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Lymphopenia, Motor stereotypy |
ORPHA:391307 |
Boomerang Dysplasia |
|
Fibular aplasia, Hypoplastic iliac body, Absent radius |
OMIM:112310 |
Macrocephaly-Developmental Delay Syndrome |
|
Hepatosplenomegaly, Motor stereotypy |
ORPHA:397612 |
48,Xxyy Syndrome |
|
Tremor, Ataxia, Motor stereotypy |
ORPHA:10 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Choreoathetosis, Blepharospasm, Limb hypertonia, Athetosis, Tongue thrusting, Limb tremor, Exagge... |
OMIM:608643 |
Lamb-Shaffer Syndrome |
|
Upper motor neuron dysfunction, Ataxia, Motor stereotypy |
ORPHA:530983 |
Osteopathia Striata With Cranial Sclerosis |
|
Pierre-Robin sequence, High palate, Dental malocclusion, Bifid uvula, Cleft upper lip, Paranasal ... |
OMIM:300373 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Motor stereotypy, Limb hypertonia, Spasticity, High nonceruloplasmin-bound serum copper, Thromboc... |
ORPHA:457351 |
5Q14.3 Microdeletion Syndrome |
|
Motor stereotypy |
ORPHA:228384 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/Hypoplasia involving the carpal bones, Aplasia of the ulna, Carpal bone aplasia, Aplasia/... |
OMIM:276820 |
Kinsship Syndrome |
|
Short philtrum, Coxa valga, Gingival overgrowth, Fibular hypoplasia, Pes planus, Dislocated radia... |
OMIM:619297 |
Enamel-Renal Syndrome |
|
Amelogenesis imperfecta, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, Abno... |
ORPHA:1031 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Narrow mouth, Decreased serum zinc, Decreased serum iron, Carious teeth, Decreased plasma carniti... |
ORPHA:89842 |
Alazami Syndrome |
|
Stereotypical hand wringing, Motor stereotypy |
ORPHA:319671 |
Singleton-Merten Syndrome 1 |
|
Hypoplastic distal radial epiphyses, Expanded phalanges with widened medullary cavities, Expanded... |
OMIM:182250 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Cortical myoclonus, Motor stereotypy, Ataxia, Spasticity, Myoclonus |
ORPHA:168491 |
2Q23.1 Microdeletion Syndrome |
|
Ataxia, Motor stereotypy |
ORPHA:228402 |
Childhood Disintegrative Disorder |
|
Motor stereotypy |
ORPHA:168782 |
Renal Dysplasia-Limb Defects Syndrome |
|
Narrow mouth, High palate, Phocomelia, Short sternum, Short ribs, Short metacarpal, Hypoplasia of... |
OMIM:266910 |
Pyruvate Carboxylase Deficiency |
|
Hypernatremia, Abnormal pyramidal sign, Hypertaurinemia, Hyperlysinemia, Hyperprolinemia, Increas... |
ORPHA:3008 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Recurrent hand flapping |
OMIM:615516 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Speech apraxia, Motor stereotypy |
ORPHA:529965 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Motor stereotypy, Fasciculations, Cataplexy, Ataxia, Elevated circulating creatine kinase concent... |
ORPHA:496641 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Incoordination, Stereotypical hand wringing, Ataxia |
OMIM:614104 |
Hemochromatosis, Type 1 |
|
Increased circulating ferritin concentration, Increased serum iron, Splenomegaly |
OMIM:235200 |
Yunis-Varon Syndrome |
|
Absent sternal ossification, Abnormal pelvis bone morphology, Aplasia/Hypoplasia of the clavicles... |
ORPHA:3472 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Motor stereotypy |
ORPHA:3306 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Brachydactyly, Irregular epiphyses, Metaphyseal irregularity, Hypoplasia of the ulna, Foot polyda... |
OMIM:208500 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Gait ataxia, Tremor, Hypercalcemia, Motor stereotypy |
ORPHA:476126 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Motor stereotypy |
ORPHA:313892 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Opisthotonus, Choreoathetosis, Limb hypertonia, Ataxia, Recurrent hand flapping, Gait ataxia, Ton... |
OMIM:619580 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Jerky head movements, Hypertriglyceridemia, Hypercalcemia |
ORPHA:369837 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Motor stereotypy |
ORPHA:500159 |
Syndromic Diarrhea |
|
Hepatoblastoma, Abnormality of the liver, Thrombocytosis, Splenomegaly, Hepatomegaly, Abnormality... |
ORPHA:84064 |
Megalocornea-Intellectual Disability Syndrome |
|
Motor stereotypy, Ataxia, Hypercholesterolemia |
ORPHA:2479 |
Transketolase Deficiency |
|
Motor stereotypy, Hepatomegaly, Elevated circulating ribitol concentration |
ORPHA:488618 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Ataxia, Recurrent hand flapping, Tongue thrusting, Myoclonus, Tremor |
ORPHA:98794 |
Smith-Magenis Syndrome |
|
Motor stereotypy, Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:819 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Repetitive compulsive behavior, Lower limb spasticity, Ataxia, Rigidity, Progressive spasticity, ... |
OMIM:300260 |
Trichohepatoenteric Syndrome 2 |
|
Decreased serum iron |
OMIM:614602 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic tetraplegia, Motor stereotypy, Spasticity, Torticollis, Oculomotor apraxia, Spastic ataxi... |
ORPHA:300570 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Hemiballismus, Repetitive compulsive behavior, Choreoathetosis, Motor stereotypy, Athetoid cerebr... |
ORPHA:522077 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Stereotypical hand wringing, Lower limb spasticity, Ataxia, Hepatomegaly, Cerebral palsy |
ORPHA:163681 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Torticollis, Tremor, Speech apraxia, Recurrent hand flapping |
OMIM:619680 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Paroxysmal dyskinesia, Choreoathetosis, Speech apraxia, Motor stereotypy |
ORPHA:261197 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
T lymphocytopenia, Opisthotonus, Hypereosinophilia, Motor stereotypy, Decreased proportion of CD4... |
ORPHA:508533 |
Angelman Syndrome Due To A Point Mutation |
|
Tongue thrusting, Ataxia, Recurrent hand flapping |
ORPHA:411511 |
Distal Xq28 Microduplication Syndrome |
|
Neonatal hyperbilirubinemia, Stereotypical body rocking |
ORPHA:293939 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Involuntary movements, Motor stereotypy |
ORPHA:98784 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Pancytopenia, Reticulocytosis, Leukopenia, Decreased serum iron, Increased blood urea nitrogen, A... |
ORPHA:447 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Motor stereotypy |
ORPHA:261144 |
3P25.3 Microdeletion Syndrome |
|
Ataxia, Motor stereotypy |
ORPHA:435638 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Repetitive compulsive behavior, Spasticity |
ORPHA:401777 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Hypertonia, Ataxia, Recurrent hand flapping |
OMIM:300986 |
Aplasia Of Lacrimal And Salivary Glands |
|
Carious teeth, Xerostomia |
OMIM:180920 |
22Q11.2 Duplication Syndrome |
|
Motor stereotypy |
ORPHA:1727 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Recurrent hand flapping, Motor stereotypy |
ORPHA:449291 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Parkinsonism, Choreoathetosis, Decreased circulating ferritin concentration, Blepharospasm, Brady... |
OMIM:606159 |
Lacrimoauriculodentodigital Syndrome |
|
Hypoplasia of the ulna, Absent radius, Bilateral triphalangeal thumbs, Enamel hypoplasia, Clinoda... |
OMIM:149730 |
Kohlschutter-Tonz Syndrome-Like |
|
Stereotypical hand wringing, Lower limb spasticity, Ataxia, Spasticity, Upper limb spasticity, My... |
OMIM:619229 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Stereotypical hand wringing, Lower limb spasticity, Ataxia, Recurrent hand flapping, Stereotypica... |
OMIM:300912 |
Ulbright-Hodes Syndrome |
|
Narrow mouth, High palate, Abnormal forearm bone morphology, Phocomelia, Short sternum, Short rib... |
ORPHA:3404 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ataxia, Motor stereotypy |
ORPHA:457279 |
Charge Syndrome |
|
Bilateral talipes equinovarus, Hypoplasia of the ulna, Cleft upper lip, Absent radius, Absent tib... |
OMIM:214800 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Apraxia, Repetitive compulsive behavior, Parkinsonism |
OMIM:607485 |
Rett Syndrome, Congenital Variant |
|
Apraxia, Athetosis, Tongue thrusting, Spasticity, Chorea |
OMIM:613454 |
2Q37 Microdeletion Syndrome |
|
Motor stereotypy |
ORPHA:1001 |
Angelman Syndrome |
|
Ataxia, Recurrent hand flapping, Tongue thrusting, Myoclonus, Tremor |
ORPHA:72 |
Bainbridge-Ropers Syndrome |
|
Hypertonia, Recurrent hand flapping |
ORPHA:352577 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Tongue thrusting, Stereotypical body rocking, Thrombocytopenia, Anemia |
ORPHA:261323 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Tongue thrusting |
ORPHA:98795 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Stereotypical hand wringing, Spastic tetraparesis |
OMIM:619179 |
Kleefstra Syndrome |
|
Motor stereotypy |
ORPHA:261494 |
White-Sutton Syndrome |
|
Incoordination, Motor stereotypy |
ORPHA:468678 |
Cardiofaciocutaneous Syndrome 1 |
|
Tongue thrusting, Oculomotor apraxia, Splenomegaly, Hypertonia |
OMIM:115150 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hypokalemia, Hyponatremia, Hypercholesterolemia, Motor stereotypy, Hypoammonemia, Anemia, Clonus,... |
ORPHA:534 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Hepatic steatosis, Repetitive compulsive behavior, Spastic tetraplegia, Intention tremor, Isometr... |
OMIM:619475 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Abnormal pyramidal sign, Motor stereotypy, Spasticity, Hyperkinetic movements, Hypertonia |
ORPHA:468631 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Myoclonic spasms, Motor stereotypy, Lower limb spasticity, Clonus, Hypertonia |
ORPHA:447997 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Brachydactyly, High palate, Hypoplasia of proximal radius, Long philtrum, Fibular hypoplasia, Mic... |
ORPHA:444077 |
7Q11.23 Microduplication Syndrome |
|
Dysmetria, Motor stereotypy |
ORPHA:96121 |
Mgat2-Cdg |
|
Stereotypical hand wringing, Impaired lymphocyte transformation with phytohemagglutinin |
ORPHA:79329 |
Phelan-Mcdermid Syndrome |
|
Tongue thrusting |
OMIM:606232 |
Nmda Receptor Encephalitis |
|
Opisthotonus, Choreoathetosis, Motor stereotypy, Involuntary movements, Rigidity, Chorea, Myoclonus |
ORPHA:217253 |
Bainbridge-Ropers Syndrome |
|
Hypertonia, Recurrent hand flapping |
OMIM:615485 |
Dpagt1-Cdg |
|
Tremor, Ataxia, Hepatomegaly, Anemia, Elevated hepatic transaminase, Stereotypical body rocking, ... |
ORPHA:86309 |
Prader-Willi Syndrome Due To Translocation |
|
Motor stereotypy |
ORPHA:177907 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Exocrine pancreatic insufficiency, Motor stereotypy |
ORPHA:508498 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Gait ataxia, Stereotypical body rocking, Repetitive compulsive behavior, Motor stereotypy |
ORPHA:513456 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Motor stereotypy |
ORPHA:464311 |
Neuroferritinopathy |
|
Parkinsonism, Resting tremor, Decreased circulating ferritin concentration, Blepharospasm, Involu... |
ORPHA:157846 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Motor stereotypy |
ORPHA:464306 |
Wiedemann-Steiner Syndrome |
|
Motor stereotypy |
ORPHA:319182 |
Mucopolysaccharidosis Type 2 |
|
Splenomegaly, Hepatomegaly, Motor stereotypy |
ORPHA:580 |
1P36 Deletion Syndrome |
|
Hepatic steatosis, Abnormality of the liver, Motor stereotypy, Abnormality of the spleen, Annular... |
ORPHA:1606 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Decreased serum iron, Stereotypical hand wringing, Involuntary movements, Anemia, Exaggerated sta... |
ORPHA:438213 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Tongue thrusting, Hemiparesis |
ORPHA:369950 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Stereotypical hand wringing, Ataxia, Hypertonia |
ORPHA:268261 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hepatic steatosis, Hepatosplenomegaly, Portal hypertension, Cholestasis, Hypocalcemia, Hemolytic ... |
OMIM:619503 |
Tuberous Sclerosis Complex |
|
Repetitive compulsive behavior, Hepatic cysts |
ORPHA:805 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Motor stereotypy |
ORPHA:353281 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Motor stereotypy |
ORPHA:353277 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Motor stereotypy |
ORPHA:353284 |
Norrie Disease |
|
Hypertonia, Clonus, Motor stereotypy |
ORPHA:649 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Poor fine motor coordination, Spasticity, Asplenia, Motor stereotypy |
ORPHA:261537 |
Mowat-Wilson Syndrome |
|
Ataxia, Spasticity, Asplenia, Motor stereotypy |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Poor fine motor coordination, Spasticity, Asplenia, Motor stereotypy |
ORPHA:261552 |
L-Ferritin Deficiency |
|
Decreased circulating ferritin concentration |
OMIM:615604 |
Genetic Hyperferritinemia Without Iron Overload |
|
Increased circulating ferritin concentration |
ORPHA:254704 |
Hyperferritinemia With Or Without Cataract |
|
Increased circulating ferritin concentration |
OMIM:600886 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
|
ORPHA:163 |