Regional Odontodysplasia |
|
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... |
ORPHA:83450 |
Dentin Dysplasia, Type I |
|
Taurodontia, Dentinogenesis imperfecta limited to primary teeth, Microdontia, Pulp obliteration, ... |
OMIM:125400 |
Amelogenesis Imperfecta |
|
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... |
ORPHA:88661 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Enamel hypoplasia, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta |
OMIM:617297 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dentinogenesis imperfecta, Anterior open-bite malocclusion, Dental enamel pits, Odontodysplasia, ... |
OMIM:125500 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Abnormality of molar, Abnormality of the dentition, Shovel-shaped maxillary central incisors |
OMIM:114700 |
Amelogenesis Imperfecta, Type Ie |
|
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia |
OMIM:301200 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Amelogenesis imperfecta, Carious teeth |
OMIM:615887 |
Dentinogenesis Imperfecta |
|
Persistence of primary teeth, Fragile teeth, Generalized hypoplasia of dental enamel, Grayish ena... |
ORPHA:49042 |
Taurodontism, Microdontia, And Dens Invaginatus |
|
Dens in dente, Taurodontia, Microdontia, Pulp calcification |
OMIM:313490 |
Dentin Dysplasia, Type Ii |
|
Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification |
OMIM:125420 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Enamel hypomineralization, Amelogenesis imperfecta, Hypomature dental enamel |
OMIM:613211 |
Otodental Dysplasia |
|
Taurodontia, Agenesis of premolar, Long philtrum, Delayed eruption of teeth, Pulp calcification, ... |
OMIM:166750 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:614832 |
Dentin Dysplasia With Sclerotic Bones |
|
Abnormality of the dentition, Dentinogenesis imperfecta limited to primary teeth |
OMIM:125440 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari... |
OMIM:204700 |
Amelogenesis Imperfecta, Type Iiib |
|
Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617607 |
Anonychia-Microcephaly Syndrome |
|
Abnormality of the dentition, Carious teeth |
ORPHA:1094 |
Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Amelogenesis imperfecta |
ORPHA:79129 |
Dental Ankylosis |
|
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology |
ORPHA:1077 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Enamel hypoplasia, Carious teeth |
OMIM:614564 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth |
ORPHA:2027 |
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
|
Amelogenesis imperfecta |
OMIM:301201 |
Amelogenesis Imperfecta, Type Ib |
|
Amelogenesis imperfecta |
OMIM:104500 |
Hypertrichosis Lanuginosa Congenita |
|
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth |
ORPHA:2222 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology |
OMIM:612529 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Hypodontia, Malar flattening, Maxillozygomatic hypoplasia, Delayed eruption of teeth, Alveolar pr... |
ORPHA:2972 |
Oligodontia |
|
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... |
ORPHA:99798 |
Shaheen Syndrome |
|
Enamel hypoplasia, Carious teeth |
OMIM:615328 |
Amelogenesis Imperfecta, Type Ih |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Yellow-brown discoloration of the teeth, Dent... |
OMIM:616221 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion |
OMIM:617217 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Enamel hypoplasia, Oral mucosal blisters, Carious teeth |
ORPHA:79406 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Oral mucosal blisters, Hypodontia, Camptodactyly of finger, Carious teeth, Enamel hypoplasia |
OMIM:226650 |
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:603641 |
Pfeiffer-Palm-Teller Syndrome |
|
Enamel hypoplasia |
ORPHA:2871 |
Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
Dentin Dysplasia |
|
Abnormality of dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Enamel hypoplasia, Dysphagia, Hypodontia |
OMIM:616029 |
Junctional Epidermolysis Bullosa Inversa |
|
Enamel hypoplasia, Oral mucosal blisters, Atrophic scars, Carious teeth |
ORPHA:79405 |
Amelogenesis Imperfecta, Type Iv |
|
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Taurodontia, Amelogenesis imperfecta |
OMIM:104510 |
Amelogenesis Imperfecta, Type Ia |
|
Taurodontia, Amelogenesis imperfecta, Generalized microdontia |
OMIM:104530 |
Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta |
OMIM:125490 |
Amelogenesis Imperfecta, Type If |
|
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color |
OMIM:616270 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Short philtrum, Dentinogenesis imperfecta, Delayed eruption of teeth |
ORPHA:71267 |
Amelogenesis Imperfecta, Type Iiia |
|
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion |
OMIM:130900 |
Fryns Macrocephaly |
|
Wide mouth, Macrodontia of permanent maxillary central incisor, Everted lower lip vermilion, Shor... |
OMIM:600302 |
Kohlschutter-Tonz Syndrome |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:226750 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Enamel hypoplasia, Failure to thrive, Atrophic scars, Carious teeth |
OMIM:226700 |
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus |
|
Enamel hypoplasia |
OMIM:202900 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
High palate, Gingival overgrowth, Everted lower lip vermilion, Delayed eruption of teeth, Gingiva... |
ORPHA:2025 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology |
ORPHA:3196 |
Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Scarring alopecia of scalp, Dental enamel pits, Carious teeth |
OMIM:619787 |
Fibromatosis, Gingival, With Distinctive Facies |
|
High palate, Persistence of primary teeth, Everted lower lip vermilion, Gingival fibromatosis, Ir... |
OMIM:228560 |
Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth, Gingival fibromatosis |
ORPHA:2026 |
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta |
OMIM:605594 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Hypodontia, Everted lower lip vermilion, Abnormality of the dentition, Agenesis of permanent teet... |
ORPHA:2228 |
Trichodental Dysplasia |
|
Odontodysplasia, Conical tooth, Hypodontia |
OMIM:601453 |
17Q11.2 Microduplication Syndrome |
|
Thin vermilion border, Enamel hypoplasia, Abnormal dental enamel morphology, Malar flattening |
ORPHA:139474 |
Heimler Syndrome 1 |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:234580 |
Pyle Disease |
|
Delayed eruption of teeth, Carious teeth, Hypoplastic frontal sinuses, Mandibular prognathia, Abs... |
OMIM:265900 |
Fused Mandibular Incisors |
|
Abnormality of the dentition, Advanced eruption of teeth |
ORPHA:2287 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Cleft palate |
OMIM:600252 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Delayed eruption of teeth, Amelogenesis imperfecta, Hypodontia |
OMIM:615905 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Tooth agenesis, Short philtrum, Delayed eruption of teeth, Mandibular prognathia, Abnormal dental... |
ORPHA:2325 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Enamel hypoplasia, Scarring alopecia of scalp, Oral mucosal blisters, Atrophic scars |
ORPHA:79402 |
Cleft Lip/Palate |
|
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... |
ORPHA:199306 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Enamel hypoplasia, Thick vermilion border, Carious teeth |
ORPHA:363523 |
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis |
|
Enamel hypoplasia, Increased overbite, Shovel-shaped maxillary central incisors, Dental crowding |
OMIM:600907 |
Amelogenesis Imperfecta, Type Ic |
|
Taurodontia, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown discolorati... |
OMIM:204650 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Carious teeth, Flexion contracture, Generalized hypoplasia of dental enamel |
OMIM:203550 |
Hall-Riggs Mental Retardation Syndrome |
|
U-Shaped upper lip vermilion, Failure to thrive, Hypoplasia of the primary teeth, Microdontia of ... |
OMIM:234250 |
Stimmler Syndrome |
|
Microdontia, Abnormal dental enamel morphology |
ORPHA:3199 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Delayed eruption of teeth, Hypodontia |
ORPHA:63442 |
Jalili Syndrome |
|
Amelogenesis imperfecta, Carious teeth |
OMIM:217080 |
Immunodeficiency 33 |
|
Delayed eruption of teeth, Conical tooth, Hypodontia |
OMIM:300636 |
Hemifacial Atrophy, Progressive |
|
Dental malocclusion, Tongue atrophy, Delayed eruption of teeth, Short mandibular rami |
OMIM:141300 |
Amelogenesis Imperfecta, Type Iiic |
|
Amelogenesis imperfecta, Hypocalcification of dental enamel, Yellow-brown discoloration of the te... |
OMIM:618386 |
Ramon Syndrome |
|
Failure to thrive, Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Abnormal dent... |
ORPHA:3019 |
Brachydactyly, Type E2 |
|
Oligodontia, Delayed eruption of teeth |
OMIM:613382 |
Trichoodontoonychial Dysplasia With Bone Deficiency |
|
Enamel hypoplasia, Anodontia |
OMIM:275450 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
High palate, Tremor, Spastic paraplegia |
OMIM:309560 |
Primary Condylar Hyperplasia |
|
Anterior open-bite malocclusion, Macrodontia, Abnormality of the temporomandibular joint, Abnorma... |
ORPHA:477781 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Enamel hypoplasia, Thin upper lip vermilion |
OMIM:613576 |
Catifa Syndrome |
|
Tooth malposition, Cleft palate, Inguinal hernia, Long philtrum, Delayed eruption of teeth, Campt... |
OMIM:618761 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Abnormal dental enamel morphology, Tooth agenesis, Everted lower lip vermilion, Delayed eruption ... |
ORPHA:1028 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
Otodental Syndrome |
|
Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Abnormality of canine, Abn... |
ORPHA:2791 |
Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Dentinogenesis imperfecta |
ORPHA:166277 |
Pseudopseudohypoparathyroidism |
|
Enamel hypoplasia, Obesity, Delayed eruption of teeth |
OMIM:612463 |
Florid Cemento-Osseous Dysplasia |
|
Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abnormal cementum morpho... |
ORPHA:83451 |
Episodic Ataxia, Type 1 |
|
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia |
OMIM:160120 |
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum |
|
Eruption failure, Maxillozygomatic hypoplasia, Alveolar process hypoplasia, Multiple non-erupting... |
OMIM:273050 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Atkin-Flaitz Syndrome |
|
Maxillary lateral incisor microdontia, Everted lower lip vermilion, Abnormality of the dentition,... |
ORPHA:1193 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Failure Of Tooth Eruption, Primary |
|
Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth |
OMIM:125350 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Arthrogryposis multiplex congenita, Natal tooth, Abnormal mandible morphology, Cleft palate |
OMIM:217150 |
Osteogenesis Imperfecta, Type Xii |
|
High palate, Narrow mouth, Malar flattening, Micrognathia, Delayed eruption of teeth |
OMIM:613849 |
Pfeiffer-Palm-Teller Syndrome |
|
Enamel hypoplasia |
OMIM:261560 |
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia |
|
High palate, Mandibular prognathia, Enamel hypoplasia, Malar flattening |
OMIM:600991 |
Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Delayed eruption of teeth, Truncal obesity, Everted lower lip vermilion |
ORPHA:181393 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Micrognathia, Crowded maxillary incisors, Multiple unerupted teeth |
OMIM:183300 |
Gigantiform Cementoma, Familial |
|
Multiple impacted teeth, Cementoma, Tooth malposition |
OMIM:137575 |
Tooth Agenesis, Selective, 7 |
|
Agenesis of permanent teeth, Taurodontia |
OMIM:616724 |
Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia |
OMIM:618349 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Rigidity, Resting tremor |
OMIM:619491 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Abnormality of dental morphology, Hypoplasia of teeth, Premature loss of primary teeth |
ORPHA:248 |
Cleft Palate, Isolated |
|
Gingival overgrowth, Cleft palate, Micrognathia, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Shagreen patch, Delayed eruption of teeth, Hypodontia |
ORPHA:1816 |
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Widely-spaced incisors, Oligodontia, Joint contracture of the 5th finger, Conical mandibular inci... |
OMIM:601668 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Macroglossia, Increased body mass index, Delayed eruption of teeth, Omphalocele, Increased body w... |
OMIM:614450 |
Filippi Syndrome |
|
Decreased body weight, Hypodontia, Thin vermilion border, Short philtrum, Microdontia, Serrated i... |
OMIM:272440 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Enlarged tonsils, Increased hepatic glycogen content, Hypoketotic hypoglycemia, Nonketotic hypogl... |
ORPHA:293964 |
Ackerman Syndrome |
|
Broad philtrum, Taurodontia |
OMIM:200970 |
Odontochondrodysplasia |
|
Retrognathia, Dentinogenesis imperfecta, Delayed eruption of teeth |
ORPHA:166272 |
Localized Junctional Epidermolysis Bullosa |
|
Enamel hypoplasia, Dental enamel pits, Limb joint contracture, Atypical scarring of skin, Scarrin... |
ORPHA:251393 |
Rutherfurd Syndrome |
|
Delayed eruption of primary teeth, Failure of eruption of permanent teeth |
OMIM:180900 |
Osteogenesis Imperfecta, Type V |
|
Dentinogenesis imperfecta |
OMIM:610967 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Downturned corners of mouth, Enamel hypoplasia |
ORPHA:2643 |
Tremor, Hereditary Essential, 6 |
|
Kinetic tremor, Vocal tremor, Postural tremor, Head tremor |
OMIM:618866 |
Tremor, Hereditary Essential, 5 |
|
Intention tremor, Postural tremor, Kinetic tremor, Tongue tremor |
OMIM:616736 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
Primary Dystonia, Dyt27 Type |
|
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... |
ORPHA:464440 |
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Dentinogenesis imperfecta, Carious teeth |
OMIM:604922 |
48,Xyyy Syndrome |
|
High palate, Irregularly spaced teeth, Long philtrum, Enamel hypoplasia, Thick lower lip vermilion |
ORPHA:99329 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Everted upper lip vermilion, Delayed eruption of teeth, Microdontia, Everted lower lip vermilion |
ORPHA:181 |
Tricho-Dento-Osseous Syndrome |
|
Taurodontia, Periapical tooth abscess, Microdontia, Widely spaced teeth, Enamel hypomineralizatio... |
ORPHA:3352 |
Osteogenesis Imperfecta, Type Ix |
|
Dentinogenesis imperfecta |
OMIM:259440 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Enamel hypoplasia, Scarring alopecia of scalp, Increased connective tissue, Carious teeth |
OMIM:226670 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
High palate, Hip contracture, Tooth agenesis, Microretrognathia, Cleft palate, Inguinal hernia, M... |
OMIM:618363 |
Intellectual Disability, Birk-Barel Type |
|
High, narrow palate, Micrognathia, Short philtrum, Congenital finger flexion contractures, Broad ... |
ORPHA:166108 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... |
ORPHA:98807 |
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair |
|
Oligodontia, Taurodontia |
OMIM:272980 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Enamel hypoplasia, Micrognathia |
OMIM:251190 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
High palate, Tooth agenesis, Micrognathia, Camptodactyly of finger, Delayed eruption of teeth, Br... |
ORPHA:2863 |
Pili Torti |
|
Abnormality of the dentition, Abnormal dental enamel morphology |
ORPHA:2889 |
Heimler Syndrome 2 |
|
Dental crowding, Amelogenesis imperfecta |
OMIM:616617 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth |
ORPHA:2266 |
Short Stature, Dauber-Argente Type |
|
Delayed eruption of teeth |
OMIM:619489 |
Jalili Syndrome |
|
Abnormal dental enamel morphology, Amelogenesis imperfecta, Abnormality of dental color |
ORPHA:1873 |
Osteogenesis Imperfecta, Type Xxii |
|
Dentinogenesis imperfecta |
OMIM:619795 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Widely spaced teeth, Dental malocclusion, Malar flattening |
OMIM:616108 |
Trichodentoosseous Syndrome |
|
Widely spaced teeth, Taurodontia, Microdontia |
OMIM:190320 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Delayed eruption of permanent teeth |
ORPHA:839 |
Clark-Baraitser syndrome |
|
Maxillary lateral incisor microdontia, Prominent median palatal raphe, Exaggerated median tongue ... |
OMIM:300602 |
Dystonia 27 |
|
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor |
OMIM:616411 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Action tremor, Hand tremor |
OMIM:190300 |
Liang-Wang Syndrome |
|
Wide mouth, Gingival overgrowth, Macrodontia of permanent maxillary central incisor, Macroglossia... |
OMIM:618729 |
Pilodental Dysplasia With Refractive Errors |
|
Conical incisor, Hypodontia |
OMIM:262020 |
Coffin-Siris Syndrome 10 |
|
Wide mouth, Persistence of primary teeth |
OMIM:618506 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Tremor, Myoclonus, Involuntary movements, Dystonia |
OMIM:611092 |
Dental Anomalies And Short Stature |
|
Oligodontia, Microdontia, Widely spaced teeth, Hypoplasia of the maxilla, Mandibular prognathia, ... |
OMIM:601216 |
Anonychia With Flexural Pigmentation |
|
Carious teeth |
ORPHA:69125 |
Amelocerebrohypohidrotic Syndrome |
|
Abnormal dental enamel morphology, Yellow-brown discoloration of the teeth, Amelogenesis imperfec... |
ORPHA:1946 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Enamel hypoplasia, Widely spaced teeth, Conical tooth |
OMIM:613573 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hand tremor, Hypoketotic hypoglycemia, ... |
ORPHA:79299 |
Sjogren-Larsson Syndrome |
|
Enamel hypoplasia, Flexion contracture |
OMIM:270200 |
Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Yellow-brown discoloration of the teeth, Marked delay in erup... |
OMIM:104570 |
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
Laron Syndrome |
|
Tooth agenesis, Micrognathia, Delayed eruption of teeth, Truncal obesity, Microdontia |
ORPHA:633 |
Dystonia 3, Torsion, X-Linked |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... |
OMIM:314250 |
Atkin-Flaitz Syndrome |
|
Maxillary lateral incisor microdontia, Prominent median palatal raphe, Exaggerated median tongue ... |
OMIM:300431 |
Pseudohypoaldosteronism Type 2 |
|
Abnormality of the dentition, Abnormal dental enamel morphology |
ORPHA:757 |
Glutathionuria |
|
Tremor |
OMIM:231950 |
Tetrasomy 12P |
|
Thick upper lip vermilion, Abnormal soft palate morphology, Everted lower lip vermilion, Cachexia... |
ORPHA:884 |
Mulibrey Nanism |
|
Dental malocclusion, Hypodontia, Enamel hypoplasia, Hypoplastic frontal sinuses, Dental crowding,... |
OMIM:253250 |
Familial Isolated Hypoparathyroidism |
|
Delayed eruption of teeth, Abnormal dental enamel morphology |
ORPHA:2238 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Premature loss of teeth, Carious teeth |
OMIM:161000 |
Intellectual Disability And Myopathy Syndrome |
|
Dental malocclusion, Incisor macrodontia, Widely-spaced maxillary central incisors, Thin upper li... |
OMIM:619719 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesidioblastosis |
OMIM:601820 |
Impacted Teeth, Multiple |
|
Multiple impacted teeth, Supernumerary tooth |
OMIM:308280 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Notched primary central incisor |
OMIM:620062 |
Weismann-Netter Syndrome |
|
Delayed eruption of permanent teeth |
OMIM:112350 |
Teebi Hypertelorism Syndrome 2 |
|
High palate, Cleft palate, Everted lower lip vermilion, Microdontia, Delayed eruption of teeth, T... |
OMIM:619736 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Enamel hypoplasia, Scarring alopecia of scalp, Carious teeth |
OMIM:612843 |
Pili Torti, Early-Onset |
|
Enamel hypoplasia |
OMIM:261900 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Ataxia, Abnormal pyramidal sign, Tremor, Spasticity, Dystonia, Abnormality of extrapy... |
OMIM:614561 |
Hemifacial Hyperplasia |
|
Dental malocclusion, Hypoplasia of the maxilla |
OMIM:133900 |
Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Tremor, Babinski sign, Malar flattening |
OMIM:300660 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Narrow mouth, Cleft palate, Thin vermilion border, Long philtrum, Incisor macrodontia |
OMIM:615502 |
Intellectual Developmental Disorder, X-Linked 58 |
|
Dental malocclusion, Short philtrum |
OMIM:300210 |
Spinocerebellar Ataxia 20 |
|
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor |
OMIM:608687 |
Ectodermal Dysplasia With Adrenal Cyst |
|
Delayed eruption of teeth |
OMIM:129550 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
High palate, Wide mouth, Long philtrum, Delayed eruption of teeth, Dental crowding |
OMIM:618825 |
Taurodontism |
|
Taurodontia |
OMIM:272700 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
Hall-Riggs Syndrome |
|
Wide mouth, Failure to thrive, Delayed eruption of teeth, Downturned corners of mouth, Thick verm... |
ORPHA:2107 |
4H Leukodystrophy |
|
Dysphagia, Abnormality of the dentition, Hypodontia, Delayed eruption of teeth |
ORPHA:289494 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
High palate, Dental crowding, Macroglossia, Long philtrum, Delayed eruption of teeth, Camptodacty... |
OMIM:616354 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental malocclusion, Narrow mouth, Failure to thrive, Macrodontia of permanent maxillary central ... |
OMIM:257850 |
Orofaciodigital Syndrome Type 5 |
|
Accessory oral frenulum, Absent cupid's bow, Hypodontia, High, narrow palate, Supernumerary tooth... |
ORPHA:2919 |
Frank-Ter Haar Syndrome |
|
Wide mouth, Gingival overgrowth, Premature loss of teeth, Inguinal hernia, Short philtrum, Campto... |
ORPHA:137834 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies |
|
High palate, Anodontia, Dental malocclusion, Narrow palate, Supernumerary tooth, Failure to thriv... |
OMIM:264475 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Premature loss of teeth, Flexion contracture of finger, Supernumerary tooth, Abnormality of the d... |
ORPHA:69087 |
Neuronal Intestinal Pseudoobstruction |
|
Congenital diaphragmatic hernia, Natal tooth |
ORPHA:99811 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Failure to thrive, Amelogenesis imperfecta, Malar flattening |
OMIM:614727 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Brittle Cornea Syndrome 1 |
|
Atypical scarring of skin, Dentinogenesis imperfecta |
OMIM:229200 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Ataxia, Hyperinsulinemic hypoglycemia, Spasticity |
OMIM:240800 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Narrow mouth, Micrognathia, Microdontia, Open mouth, Delayed eruption of permanent teeth |
OMIM:619356 |
Odontomicronychial Dysplasia |
|
Abnormality of the dentition, Premature loss of primary teeth, Premature eruption of permanent teeth |
ORPHA:1811 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Anodontia, Tooth agenesis, Agenesis of premolar, Hypodontia, Agenesis of molar, Agenesis of later... |
OMIM:313500 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Failure to thrive, Joint contracture of the hand, Flexion contracture, Small for gestational age,... |
OMIM:214150 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Micrognathia, Microdontia, Widely spaced teeth, Conical tooth, Peg-shaped maxillary lateral incisors |
OMIM:610706 |
Pseudohypoparathyroidism, Type Ic |
|
Enamel hypoplasia, Obesity, Delayed eruption of teeth |
OMIM:612462 |
Braddock-Carey Syndrome 1 |
|
U-Shaped upper lip vermilion, Cleft palate, Everted lower lip vermilion, Camptodactyly, Enamel hy... |
OMIM:619980 |
Acrootoocular Syndrome |
|
Anodontia, Dental malocclusion, Failure to thrive, Supernumerary tooth, High, narrow palate, Smal... |
ORPHA:2980 |
48,Xxyy Syndrome |
|
Taurodontia, Cleft palate, Open bite, Inguinal hernia, Delayed eruption of teeth, Carious teeth, ... |
ORPHA:10 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia |
OMIM:618425 |
Osteogenesis Imperfecta, Type Xi |
|
Abnormality of the dentition, Dentinogenesis imperfecta |
OMIM:610968 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:245660 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Dental malocclusion, Persistence of primary teeth, Malar flattening, Oligodontia, Microdontia, En... |
OMIM:618727 |
Cockayne Syndrome Type 2 |
|
Anodontia, Widely spaced primary teeth, Scarring, Hypoplasia of the primary teeth, Flexion contra... |
ORPHA:90322 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... |
OMIM:605407 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... |
ORPHA:263458 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Limb ataxia, Rigidity, Tremor, Gait ataxia |
OMIM:617018 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
High palate, Dental crowding, Overjet, Decreased body weight, Persistence of primary teeth, Hypod... |
OMIM:618342 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Widely spaced teeth, Delayed eruption of teeth, Thick lower lip vermilion |
OMIM:619797 |
Immunodeficiency 9 |
|
Stomatitis, Failure to thrive, Amelogenesis imperfecta, Recurrent aphthous stomatitis |
OMIM:612782 |
Oculocerebrodental Syndrome |
|
Retrognathia, Abnormality of the dentition, Oligodontia, Microdontia, Enamel hypoplasia |
ORPHA:557003 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
High palate, Failure to thrive, Malar flattening, Bilateral cleft lip and palate, Enamel hypoplas... |
OMIM:618874 |
Odontochondrodysplasia 1 |
|
Long philtrum, Delayed eruption of teeth, Dentinogenesis imperfecta |
OMIM:184260 |
X-Linked Non-Syndromic Intellectual Disability |
|
Small for gestational age, Long philtrum, Delayed eruption of teeth, Obesity, Thin upper lip verm... |
ORPHA:777 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
Acrofacial Dysostosis, Weyers Type |
|
Hypodontia, Abnormality of the dentition, Advanced eruption of teeth, Conical tooth, Solitary med... |
ORPHA:952 |
Coffin-Siris Syndrome 3 |
|
Wide mouth, Delayed eruption of permanent teeth, Macroglossia |
OMIM:614608 |
3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, Progressive cerebellar ataxia, Hypoglycemia, Spastic tetraparesis, Dystonia |
ORPHA:67046 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia, Hepatomegaly |
OMIM:615158 |
Parkinsonism With Spasticity, X-Linked |
|
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity |
OMIM:300911 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Ataxia, Babinski sign, Spasticity |
OMIM:611105 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Cole-Carpenter Syndrome 2 |
|
High palate, Dentinogenesis imperfecta, Microretrognathia |
OMIM:616294 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Enamel hypoplasia, Taurodontia, Pulp calcification |
OMIM:211900 |
Usher Syndrome Type 1 |
|
Abnormal dental enamel morphology |
ORPHA:231169 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... |
OMIM:260300 |
Sulfite Oxidase Deficiency, Isolated |
|
Delayed eruption of teeth |
OMIM:272300 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Premature loss of teeth, Periodontitis, Dentinogenesis imperfecta, Retrognathia, Delayed eruption... |
OMIM:619269 |
Cranioectodermal Dysplasia |
|
Taurodontia, Hypodontia, Everted lower lip vermilion, Abnormality of the dentition, Microdontia, ... |
ORPHA:1515 |
Coffin-Siris Syndrome 2 |
|
High palate, Wide mouth, Cleft palate, Macroglossia, Inguinal hernia, Short philtrum, Long philtr... |
OMIM:614607 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Oligodontia, Scarring alopecia of scalp, Hypodontia, Abnormal dental enamel morphology |
ORPHA:59303 |
Nance-Horan Syndrome |
|
Mulberry molar, Supernumerary maxillary incisor, Diastema, Screwdriver-shaped incisors |
OMIM:302350 |
Osteogenesis Imperfecta, Type Iii |
|
Micrognathia, Dentinogenesis imperfecta |
OMIM:259420 |
Aredyld Syndrome |
|
Abnormal dental enamel morphology, Narrow mouth, Craniofacial hyperostosis, Lipoatrophy, Cachexia... |
ORPHA:1133 |
Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Dens in dente, Hypodontia, Macrodontia, Bifid uvula, Enamel hypoplasia, Mandibular prognathia |
OMIM:263540 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Dental crowding, Hypodontia, Cleft palate, Oligodontia, Enamel hypoplasia, Thick vermilion border... |
OMIM:619184 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypoglycemia, Ataxia, Dystonia |
OMIM:616113 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Corneal scarring, Narrow mouth, Oral mucosal blisters, Flexion contracture, Enamel hypoplasia, At... |
OMIM:226600 |
Pycnodysostosis |
|
Narrow palate, Persistence of primary teeth, Hypodontia, Micrognathia, Carious teeth, Delayed eru... |
OMIM:265800 |
Pseudohypoparathyroidism, Type Ia |
|
Enamel hypoplasia, Obesity, Delayed eruption of teeth |
OMIM:103580 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Oral mucosal blisters, Atrophic scars, Carious teeth |
ORPHA:79411 |
Eem Syndrome |
|
Microdontia, Carious teeth, Widely spaced teeth, Abnormality of dental morphology, Selective toot... |
ORPHA:1897 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Enamel hypoplasia, Oligodontia, Hypodontia |
OMIM:607626 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Broad alveolar ridges, Mandibular prognathia, Delayed eruption of permanent teeth, Facial hyperos... |
OMIM:218400 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Delayed eruption of teeth, Abnormal dental enamel morphology |
ORPHA:1782 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hypoplasia of teeth, Carious teeth |
OMIM:613312 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Cleft palate, Diastema, Microdontia, Deep philtrum, Talon cusp |
OMIM:605282 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis |
OMIM:261650 |
Premature Aging Syndrome, Penttinen Type |
|
Lipoatrophy, Thin vermilion border, Micrognathia, Delayed eruption of teeth, Hypoplasia of the ma... |
OMIM:601812 |
Spinocerebellar Ataxia Type 20 |
|
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... |
ORPHA:101110 |
Momo Syndrome |
|
High palate, Dental malocclusion, Taurodontia, Long philtrum, Delayed eruption of teeth, Obesity,... |
OMIM:157980 |
Mandibulofacial Dysostosis With Alopecia |
|
Cleft palate, Everted lower lip vermilion, Glossoptosis, Micrognathia, Hypoplasia of the maxilla,... |
OMIM:616367 |
Qazi-Markouizos Syndrome |
|
Hypoplasia of teeth, Broad philtrum, High, narrow palate, Open mouth |
ORPHA:3010 |
Aarskog-Scott Syndrome |
|
Cleft upper lip, Cleft palate, Everted lower lip vermilion, Inguinal hernia, Abnormality of the d... |
ORPHA:915 |
Amelogenesis Imperfecta, Type Ig |
|
Gingival overgrowth, Dagger-shaped pulp calcifications, Gingival fibromatosis, Delayed eruption o... |
OMIM:204690 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
High palate, Dental malocclusion, Hypodontia, Joint contracture of the hand, Camptodactyly of fin... |
OMIM:612350 |
Corneodermatoosseous Syndrome |
|
Hypomature dental enamel |
OMIM:122440 |
Rubinstein-Taybi Syndrome 2 |
|
High palate, Dental malocclusion, Narrow palate, Retrognathia, Micrognathia, Carious teeth, Incre... |
OMIM:613684 |
Three M Syndrome 2 |
|
High palate, Dental malocclusion, Malar flattening, Small for gestational age, Long philtrum, Del... |
OMIM:612921 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Enamel hypoplasia, Oral mucosal blisters, Arthrogryposis multiplex congenita, Atrophic scars |
OMIM:226730 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
Auriculocondylar Syndrome 2 |
|
Dental malocclusion, Narrow mouth, Cleft palate, Short mandibular rami, Glossoptosis, Micrognathi... |
OMIM:614669 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia |
ORPHA:401901 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Hypodontia, Oligodontia, Delayed eruption of teeth, Natal tooth, Dysphagia |
OMIM:614381 |
Temple-Baraitser Syndrome |
|
High palate, Wide mouth, Gingival overgrowth, Malar flattening, Everted lower lip vermilion, Long... |
ORPHA:420561 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Dental malocclusion, Wide mouth, Flexion contracture, Short philtrum, Microdontia, Enamel hypopla... |
OMIM:619293 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Thick vermilion border, Dental malocclusion, Mandibular prognathia, Natal tooth |
OMIM:601957 |
Pycnodysostosis |
|
High palate, Dental malocclusion, Obtuse angle of mandible, Persistence of primary teeth, Hypodon... |
ORPHA:763 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Abnormal palate morphology, Abnormality of the dentition, Carious teeth |
ORPHA:3270 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Spasticity |
ORPHA:217012 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus |
OMIM:616921 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Failure to thrive, Small for gestational age, Micrognathia, Delayed eruption of teeth, Truncal ob... |
ORPHA:73272 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Dysphagia, Oligodontia, Hypodontia, Delayed eruption of teeth |
ORPHA:447896 |
Short Syndrome |
|
Dental malocclusion, Lipoatrophy, Hypodontia, Inguinal hernia, Small for gestational age, Microgn... |
OMIM:269880 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Abnormal palate morphology, Abnormal dental enamel morphology |
ORPHA:3236 |
Char Syndrome |
|
No permanent dentition, Persistence of primary teeth, Triangular mouth, Malar flattening, Everted... |
ORPHA:46627 |
Craniolenticulosutural Dysplasia |
|
High palate, Wide mouth, Premature loss of teeth, Thin vermilion border, Long philtrum, Delayed e... |
ORPHA:50814 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Abnormality of the dentition, Carious teeth |
ORPHA:2501 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:610297 |
Maxillonasal Dysplasia, Binder Type |
|
Dental malocclusion |
OMIM:155050 |
Oculofaciocardiodental Syndrome |
|
Tooth malposition, Cleft palate, Flexion contracture of the 2nd toe, Abnormality of the dentition... |
ORPHA:2712 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Vitamin D-Dependent Rickets, Type 2A |
|
Enamel hypoplasia, Failure to thrive, Delayed eruption of teeth, Carious teeth |
OMIM:277440 |
Trichothiodystrophy 2, Photosensitive |
|
Agenesis of maxillary lateral incisor |
OMIM:616390 |
Spinocerebellar Ataxia 37 |
|
Frequent falls, Tremor, Ataxia |
OMIM:615945 |
Codas Syndrome |
|
Abnormality of dental morphology, Delayed eruption of teeth, Abnormal dental enamel morphology |
ORPHA:1458 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Enamel hypoplasia, Failure to thrive, Delayed eruption of teeth |
OMIM:264700 |
Paralysis Agitans, Juvenile, Of Hunt |
|
Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia |
OMIM:168100 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
High palate, Malar flattening, Mandibular prognathia, Obesity, Abnormal dental enamel morphology |
ORPHA:2180 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome |
|
Micrognathia, Hypoplasia of the zygomatic bone, Supernumerary tooth, Carious teeth |
ORPHA:3145 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Frequent falls, Tremor, Hemiballismus, Chorea |
ORPHA:494526 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... |
OMIM:607317 |
Osteogenesis Imperfecta, Type Iv |
|
Dentinogenesis imperfecta |
OMIM:166220 |
Brachydactyly, Type B1 |
|
Delayed eruption of permanent teeth, Joint contracture of the hand, Camptodactyly |
OMIM:113000 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Narrow mouth, Tooth malposition, Hypodontia, Abnormality of the dentiti... |
ORPHA:363417 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
High palate, Prominent frontal sinuses, Persistence of primary teeth, Cleft palate, Malar flatten... |
OMIM:170390 |
Momo Syndrome |
|
High palate, Thick upper lip vermilion, Dental malocclusion, Taurodontia, Long philtrum, Delayed ... |
ORPHA:2563 |
Sjögren-Larsson Syndrome |
|
Abnormal dental enamel morphology |
ORPHA:816 |
Kohlschutter-Tonz Syndrome-Like |
|
Decreased body weight, Delayed eruption of teeth, Carious teeth, Enamel hypoplasia, Widely spaced... |
OMIM:619229 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Foca... |
ORPHA:216873 |
Dystonia, Dopa-Responsive |
|
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... |
OMIM:128230 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Reduced subcutaneous adipose tissue, Hypodontia, Flexion contracture, Carious teeth |
OMIM:612079 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Frequent falls, Tremor, Myoclonus, Dystonia |
OMIM:619647 |
Odontomicronychial Dysplasia |
|
Premature eruption of permanent teeth |
OMIM:601319 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hepatomegaly |
OMIM:609016 |
Bone Marrow Failure Syndrome 3 |
|
Failure to thrive, Hypodontia, Micrognathia, Microdontia, Enamel hypoplasia, Hernia, Amelogenesis... |
OMIM:617052 |
Osteoglosphonic Dysplasia |
|
Tooth agenesis, Inguinal hernia, Micrognathia, Multiple unerupted teeth, Failure to thrive in inf... |
ORPHA:2645 |
Ohdo Syndrome |
|
Narrow mouth, Thin vermilion border, Micrognathia, Long philtrum, Widely spaced teeth, Hypoplasia... |
OMIM:249620 |
Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... |
OMIM:611302 |
Cohen Syndrome |
|
Macrodontia of permanent maxillary central incisor, High, narrow palate, Small for gestational ag... |
OMIM:216550 |
Osteogenesis Imperfecta, Type X |
|
Micrognathia, Inguinal hernia, Dentinogenesis imperfecta, Malar flattening |
OMIM:613848 |
Usher Syndrome Type 2 |
|
Abnormality of dental color, Microdontia, Abnormal dental enamel morphology, Carious teeth |
ORPHA:231178 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor |
OMIM:611808 |
Specific Granule Deficiency 2 |
|
Amelogenesis imperfecta, Failure to thrive, Conical tooth, Tooth malposition |
OMIM:617475 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Ataxia, Hepatomegaly, Splenomegaly, Frequent falls, Tremor, Gait ataxia, Hepatic fibrosis, Spasti... |
OMIM:616719 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Taurodontia, High, narrow palate, Short philtrum, Macrodontia, Delayed eruption of teeth |
ORPHA:3214 |
Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth |
ORPHA:3238 |
Enamel-Renal Syndrome |
|
Abnormal dental enamel morphology, Gingival overgrowth, Delayed eruption of teeth, Yellow-brown d... |
ORPHA:1031 |
Seckel Syndrome 1 |
|
High palate, Dental malocclusion, Cleft palate, Micrognathia, Enamel hypoplasia, Elbow flexion co... |
OMIM:210600 |
Scarf Syndrome |
|
Inguinal hernia, Long philtrum, Enamel hypoplasia, Umbilical hernia, Hypocalcification of dental ... |
ORPHA:3134 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Hypoglycemia, Prolonged neonatal jaundice |
OMIM:262400 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
Teeth, Supernumerary |
|
Supernumerary tooth, Mesiodens |
OMIM:187100 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Tremor, Spasticity, Apraxia, Dystonia |
OMIM:615889 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... |
OMIM:607688 |
Pseudohypoparathyroidism Type 1B |
|
Enamel hypoplasia, Delayed eruption of teeth |
ORPHA:94089 |
Osteogenesis Imperfecta, Type I |
|
Dentinogenesis imperfecta |
OMIM:166200 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Hepatomegaly, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity, Dystonia |
OMIM:615924 |
48,Xxxy Syndrome |
|
Taurodontia, Cleft palate, Open bite, Inguinal hernia, Delayed eruption of teeth, Carious teeth, ... |
ORPHA:96263 |
Branchioskeletogenital Syndrome |
|
Premature loss of teeth, Thin vermilion border, Abnormality of the dentition, Short philtrum, Bif... |
ORPHA:1299 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Retrognathia, Failure to thrive, Enamel hypoplasia |
OMIM:614576 |
Neonatal Hemochromatosis |
|
Hypoglycemia, Micrognathia, Prolonged neonatal jaundice, Congenital hepatic fibrosis |
ORPHA:446 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Hypertonia, Tremor |
OMIM:264070 |
Short Stature Due To Partial Ghr Deficiency |
|
Hypoglycemia |
ORPHA:314802 |
Hypophosphatasia, Childhood |
|
Premature loss of primary teeth, Carious teeth |
OMIM:241510 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
High palate, Mandibular prognathia, Advanced eruption of teeth, Small for gestational age |
OMIM:262190 |
Cole-Carpenter Syndrome |
|
Micrognathia, Delayed eruption of teeth, Abnormal dental enamel morphology |
ORPHA:2050 |
Temtamy Syndrome |
|
Dental crowding, Hypoplasia of teeth, Micrognathia, Long philtrum |
OMIM:218340 |
Dystonia 11, Myoclonic |
|
Torticollis, Tremor, Myoclonus, Writer's cramp |
OMIM:159900 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Wide mouth, Failure to thrive, Abnormality of the dentition, Bifid uvula, Enamel hypoplasia |
OMIM:615802 |
Oculotrichodysplasia |
|
Widely spaced primary teeth, Agenesis of permanent teeth, Microdontia of primary teeth, Carious t... |
OMIM:257960 |
Xfe Progeroid Syndrome |
|
Corneal scarring, Premature loss of teeth, Failure to thrive, Cachexia, Enamel hypoplasia, Absenc... |
OMIM:610965 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Dental malocclusion, High, narrow palate |
OMIM:619692 |
Immunodeficiency 10 |
|
Amelogenesis imperfecta |
OMIM:612783 |
Chst3-Related Skeletal Dysplasia |
|
Long philtrum, Delayed eruption of teeth, Flexion contracture |
ORPHA:263463 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Slender build, Narrow palate, Macrodontia of permanent maxillary central incisor, Malar flattenin... |
ORPHA:364028 |
Cockayne Syndrome Type 1 |
|
Anodontia, Widely spaced primary teeth, Scarring, Hypoplasia of the primary teeth, Failure to thr... |
ORPHA:90321 |
Trichorhinophalangeal Syndrome, Type I |
|
Dental malocclusion, Narrow palate, Micrognathia, Long philtrum, Delayed eruption of teeth, Micro... |
OMIM:190350 |
Lowry-Maclean Syndrome |
|
High, narrow palate, Cleft palate, Congenital diaphragmatic hernia, Retrognathia, Micrognathia, I... |
ORPHA:2409 |
Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
Acrofacial Dysostosis, Catania Type |
|
Carious teeth |
OMIM:101805 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Fasciculations |
OMIM:182980 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
High palate, Dental malocclusion, Narrow mouth, Open bite, Abnormality of dental eruption, Campto... |
ORPHA:1327 |
Cleidocranial Dysplasia |
|
Sinusitis, Supernumerary tooth, High, narrow palate, Cleft palate, Open bite, Glossoptosis, Abnor... |
ORPHA:1452 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Abnormality of extrap... |
ORPHA:79262 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Gait ataxia |
ORPHA:423296 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Conical primary incisor |
OMIM:602400 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia |
OMIM:600116 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Narrow mouth, Decreased body weight, Small for gestational age, Micrognathia, Short philtrum, Oli... |
ORPHA:391408 |
Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Tremor, Ataxia, Hemiparesis |
OMIM:141500 |
X-Linked Hypophosphatemia |
|
Cellulitis, Odontodysplasia, Enthesitis, Tooth abscess, Abnormal dentin morphology |
ORPHA:89936 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Oligodontia, Hypodontia, Natal tooth |
OMIM:601345 |
Emanuel Syndrome |
|
High palate, Multiple joint contractures, Failure to thrive, Tooth malposition, Cleft palate, Con... |
ORPHA:96170 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Tooth agenesis, Narrow palate, Congenital diaphragmatic hernia, Inguinal hernia, Micrognathia, Mu... |
ORPHA:2063 |
Short Syndrome |
|
Malar flattening, Inguinal hernia, Abnormality of the dentition, Microdontia, Lipodystrophy, Abno... |
ORPHA:3163 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Enamel hypoplasia, Failure to thrive, Delayed eruption of teeth |
ORPHA:289157 |
Epilepsy, Progressive Myoclonic, 1B |
|
Tremor, Babinski sign, Dysmetria |
OMIM:612437 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Abnormality of dental morphology, Tooth agenesis, Supernumerary tooth, Delayed eruption of teeth |
ORPHA:3353 |
Acrodysostosis |
|
Open bite, Delayed eruption of teeth, Hypoplasia of the maxilla, Open mouth, Mandibular prognathia |
ORPHA:950 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Dental malocclusion, Mandibular prognathia, Abnormality of the dentition |
ORPHA:1858 |
Brachydactyly, Type E1 |
|
Multiple impacted teeth |
OMIM:113300 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Blepharospasm, Tremor, Involuntary movements, Limb dystonia, Torsion dystonia, Gener... |
ORPHA:99657 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Myoclonus, Babinski sign, Tremor, Abnormality of extrapyramidal motor function |
OMIM:615362 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Spastic ataxia, Limb ataxia, Babinski sign, Spastic dysarthria, Spastic paraplegia, T... |
ORPHA:251282 |
Oculodentodigital Dysplasia |
|
Cleft upper lip, Premature loss of teeth, Taurodontia, Cleft palate, Microdontia, Carious teeth, ... |
OMIM:164200 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Writer's cramp, Tremor, Myoclonus, Paroxysmal dystonia |
OMIM:608105 |
Johanson-Blizzard Syndrome |
|
Failure to thrive, Abnormality of the dentition, Oligodontia, Delayed eruption of teeth, Microdontia |
ORPHA:2315 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... |
ORPHA:98762 |
Anti-Glomerular Basement Membrane Disease |
|
Persistence of primary teeth |
ORPHA:375 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Oromandibular dystonia, Blepharospasm, Tremor, Writer's cramp, Limb dystonia, Torsio... |
OMIM:607671 |
Immunodeficiency 49 |
|
Micrognathia, Short philtrum, Natal tooth, Umbilical hernia |
OMIM:617237 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypoglycemia, Hypertonia, Myoclonus, Anemia |
OMIM:610090 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
High palate, Persistence of primary teeth |
OMIM:147060 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of the dentition, Oligodontia, Supernumerary tooth |
ORPHA:1264 |
Hamamy Syndrome |
|
High palate, Wide mouth, Dental malocclusion, Hypodontia, Inguinal hernia, Everted lower lip verm... |
OMIM:611174 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Hyperplasia of the maxilla, Myoclonus, Truncal ataxia, Chorea, Tremor, Gait ataxia, Thin upper li... |
OMIM:618587 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Short philtrum, Natal tooth |
OMIM:617337 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... |
ORPHA:314632 |
49,Xxxxy Syndrome |
|
Taurodontia, Cleft palate, Open bite, Delayed eruption of teeth, Carious teeth, Mandibular progna... |
ORPHA:96264 |
Raine Syndrome |
|
High palate, Wide mouth, Gingival overgrowth, Narrow mouth, Cleft palate, Malar flattening, Micro... |
OMIM:259775 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia |
ORPHA:366 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
High, narrow palate, Cleft palate, Retrognathia, Micrognathia, Delayed eruption of teeth, Bifid u... |
ORPHA:2780 |
Craniometadiaphyseal Dysplasia |
|
High palate, Malar flattening, Microdontia, Carious teeth, Natal tooth, Dental crowding, Mandibul... |
OMIM:269300 |
Gabriele-De Vries Syndrome |
|
Malar flattening, Abnormality of the dentition, Tremor, Dystonia, Thick lower lip vermilion |
OMIM:617557 |
Malan Syndrome |
|
Gingival overgrowth, Narrow mouth, Everted lower lip vermilion, Retrognathia, Advanced eruption o... |
OMIM:614753 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Widely spaced teeth, Hypoplasia of teeth, Microdontia, Cleft palate |
ORPHA:2728 |
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Tremor, Spasticity, Spasti... |
OMIM:270500 |
Helsmoortel-Van Der Aa Syndrome |
|
Wide mouth, Everted lower lip vermilion, Long philtrum, Advanced eruption of teeth, Widely spaced... |
OMIM:615873 |
Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Eruption failure, Narrow mouth, Hypodontia, Micrognathia, De... |
OMIM:619322 |
Lichtenstein-Knorr Syndrome |
|
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia |
OMIM:616291 |
Melnick-Needles Syndrome |
|
Tooth malposition, Micrognathia, Delayed eruption of teeth, Omphalocele, Craniofacial hyperostosis |
ORPHA:2484 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity |
OMIM:615768 |
Pachyonychia Congenita |
|
Failure to thrive, Advanced eruption of teeth, Natal tooth, Angular cheilitis, Oral leukoplakia |
ORPHA:2309 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
High palate, Gingival overgrowth, Small for gestational age, Micrognathia, Short philtrum, Delaye... |
OMIM:619148 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
Emanuel Syndrome |
|
High palate, Congenital diaphragmatic hernia, Cleft palate, Inguinal hernia, Micrognathia, Long p... |
OMIM:609029 |
Isolated Cleft Lip |
|
Velopharyngeal insufficiency, Hypodontia, Small for gestational age, Macrodontia, Supernumerary m... |
ORPHA:199302 |
Mandibuloacral Dysplasia |
|
High palate, Dental crowding, Increased adipose tissue around the neck, Lipoatrophy, Micrognathia... |
ORPHA:2457 |
Glut1 Deficiency Syndrome 2 |
|
Ataxia, Splenomegaly, Hemolytic anemia, Tremor, Choreoathetosis, Reticulocytosis, Dystonia |
OMIM:612126 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Hypodontia, Cleft palate, Micrognathia, Submucous cleft soft palate, Delayed eruption of teeth, W... |
ORPHA:1071 |
Flynn-Aird Syndrome |
|
Carious teeth |
OMIM:136300 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Abnormal dental enamel morphology |
ORPHA:257 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Retrocollis, Myoclonus, Craniofacial dys... |
OMIM:617284 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Oromandibular dystonia, Bradykinesia, Ankle clonus, Babinski sign, Parkinsonism, Tremor, Spastici... |
ORPHA:521406 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Retrognathia, Neuromuscular dysphagia, Macrodontia of permanent maxillary central incisor |
ORPHA:466722 |
Blepharo-Cheilo-Odontic Syndrome |
|
Bilateral cleft lip and palate, Conical tooth, Carious teeth |
ORPHA:1997 |
Coffin-Siris Syndrome 9 |
|
High palate, Everted lower lip vermilion, Short philtrum, Delayed eruption of teeth, Open mouth, ... |
OMIM:615866 |
Corticobasal Syndrome |
|
Progressive extrapyramidal muscular rigidity, Bradykinesia, Myoclonus, Parkinsonism, Oromotor apr... |
ORPHA:454887 |
Barber-Say Syndrome |
|
Wide mouth, Failure to thrive, Delayed eruption of teeth |
ORPHA:1231 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Hypodontia, Cleft palate, Macrodontia, Vaginal hernia, Mandibular prognathia, Abnormal dental ena... |
ORPHA:2916 |
Eiken Syndrome |
|
Eruption failure, Decreased body weight, Persistence of primary teeth, Short philtrum, Oligodonti... |
OMIM:600002 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Tremor, Rigidity, Dystonia |
OMIM:615010 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of primary teeth, Hiatus hernia, Umbilical hernia, Dental crowding, Overweight |
OMIM:619769 |
Smith-Magenis Syndrome |
|
Cleft upper lip, Taurodontia, Cleft palate, Micrognathia, Short philtrum, Tented upper lip vermil... |
ORPHA:819 |
Parkinson Disease 22, Autosomal Dominant |
|
Tremor, Bradykinesia, Resting tremor |
OMIM:616710 |
Cleidocranial Dysplasia 1 |
|
High palate, Narrow palate, Supernumerary tooth, High, narrow palate, Cleft palate, Malar flatten... |
OMIM:119600 |
Spinocerebellar Ataxia 18 |
|
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Progressive gait ataxia |
OMIM:607458 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
Glycogen Storage Disease Vi |
|
Hypoglycemia, Increased hepatic glycogen content, Hepatomegaly |
OMIM:232700 |
Coffin-Lowry Syndrome |
|
High palate, Wide mouth, Narrow palate, Hypodontia, Everted lower lip vermilion, Delayed eruption... |
ORPHA:192 |
Celiac Disease, Susceptibility To, 1 |
|
Failure to thrive, Enamel hypoplasia, Stomatitis, Recurrent aphthous stomatitis, Weight loss |
OMIM:212750 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Mandibular osteomyelitis, Persistence of primary teeth, Carious teeth |
OMIM:259710 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Dental malocclusion, Torus palatinus |
OMIM:144750 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
High palate, Tented upper lip vermilion, Incisor macrodontia, Abnormality of primary teeth, Thin ... |
ORPHA:438216 |
Cherubism |
|
Alveolar ridge overgrowth, Dental malocclusion, Narrow palate, Macular scar, Oligodontia, Jaw swe... |
OMIM:118400 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
High palate, Premature loss of teeth, Narrow mouth, Flexion contracture, Micrognathia, Loss of tr... |
OMIM:608612 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Cellulitis, Cleft palate, Abnormality of the dentition, Delayed eruption of teeth, Gingivitis |
ORPHA:2314 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Cleft upper lip, Anodontia, Hypodontia, Abnormality of the dentition, Micrognathia, Carious teeth... |
ORPHA:3253 |
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
Narrow mouth, Narrow palate, Thick lower lip vermilion, Carious teeth |
ORPHA:457365 |
Scarf Syndrome |
|
Enamel hypoplasia, Inguinal hernia, Long philtrum, Umbilical hernia |
OMIM:312830 |
3M Syndrome |
|
Long philtrum, Delayed eruption of teeth, Abnormal dental enamel morphology, Everted lower lip ve... |
ORPHA:2616 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Retrognathia, Abnormal palate morphology, Malar flattening, Carious teeth |
ORPHA:1390 |
Auriculocondylar Syndrome 1 |
|
Dental malocclusion, Narrow mouth, Cleft palate, Glossoptosis, Micrognathia, Anterior open-bite m... |
OMIM:602483 |
Craniolenticulosutural Dysplasia |
|
High palate, Wide mouth, Cleft palate, Malar flattening, Long philtrum, Delayed eruption of teeth... |
OMIM:607812 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:240103 |
Hypophosphatasia, Adult |
|
Chondrocalcinosis, Premature loss of permanent teeth, Premature loss of primary teeth, Carious teeth |
OMIM:146300 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par... |
OMIM:613135 |
Frontometaphyseal Dysplasia 1 |
|
High palate, Dental malocclusion, Persistence of primary teeth, Cleft palate, Camptodactyly of fi... |
OMIM:305620 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Conical incisor |
OMIM:300291 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Tremor, Ataxia |
OMIM:617862 |
Dysosteosclerosis |
|
High palate, Premature loss of teeth, Micrognathia, Oligodontia, Delayed eruption of teeth, Natal... |
OMIM:224300 |
Dysostosis, Stanescu Type |
|
Tooth agenesis, Macroglossia, Abnormality of the dentition, Carious teeth, Hypoplasia of the zygo... |
ORPHA:1798 |
Orofacial Cleft 15 |
|
Palate fistula, Agenesis of lateral incisor, Bilateral cleft lip, Bilateral cleft palate |
OMIM:616788 |
Ellis-Van Creveld Syndrome |
|
Cleft upper lip, Abnormality of the alveolar ridges, Hypodontia, Delayed eruption of teeth, Natal... |
OMIM:225500 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... |
OMIM:213600 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Stereotypical hand wringing |
OMIM:619561 |
Parkinson Disease 17 |
|
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor |
OMIM:614203 |
Acrocraniofacial Dysostosis |
|
Micrognathia, Short philtrum, Natal tooth, Cleft palate |
OMIM:201050 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Dysphagia, Micrognathia, Ankle flexion contracture, Natal tooth |
OMIM:617802 |
Kilquist Syndrome |
|
Wide mouth, Hypoplasia of teeth, Mandibular prognathia |
OMIM:619080 |
Spinocerebellar Ataxia Type 37 |
|
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria, Tremor, Cogwheel rigidity |
ORPHA:363710 |
Seckel Syndrome |
|
Cachexia, Micrognathia, Tooth agenesis, Abnormal dental enamel morphology |
ORPHA:808 |
Osteogenesis Imperfecta, Type Viii |
|
Dentinogenesis imperfecta, Inguinal hernia |
OMIM:610915 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Vocal tremor, Oromandibular dystonia, Blepharospasm, Hand tremor, Myoclonus, Upper l... |
ORPHA:420485 |
Autosomal Spastic Paraplegia Type 58 |
|
Torticollis, Erratic myoclonus, Hypodontia, Dysmetria, Intention tremor, Babinski sign, Abnormal ... |
ORPHA:397946 |
Orofaciodigital Syndrome I |
|
High palate, Cleft upper lip, Alveolar ridge overgrowth, Microretrognathia, Supernumerary tooth, ... |
OMIM:311200 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Obesity, Polyphagia, Abnormal dental enamel morphology |
ORPHA:251004 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Retrognathia, Enamel hypoplasia, Microdontia, Truncal obesity |
OMIM:210720 |
Hypophosphatemic Rickets |
|
Failure to thrive, Periapical tooth abscess, Abnormality of the dentition, Craniofacial asymmetry... |
ORPHA:437 |
Spinocerebellar Ataxia 23 |
|
Dysmetria, Limb ataxia, Babinski sign, Tremor, Gait ataxia |
OMIM:610245 |
Mucopolysaccharidosis Type 4 |
|