| Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... |
OMIM:613424 |
| Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... |
OMIM:604169 |
| Taurodontism, Microdontia, And Dens Invaginatus |
|
Dens in dente, Taurodontia, Microdontia, Pulp calcification |
OMIM:313490 |
| Carabelli Anomaly Of Maxillary Molar Teeth |
|
Abnormality of molar, Abnormality of the dentition, Shovel-shaped maxillary central incisors |
OMIM:114700 |
| Anonychia-Microcephaly Syndrome |
|
Abnormality of the dentition, Anonychia, Aplastic/hypoplastic toenail, Carious teeth |
ORPHA:1094 |
| Filippi Syndrome |
|
Hypertrichosis, Hypodontia, Sparse hair, Thin vermilion border, Short philtrum, Microdontia, Fron... |
OMIM:272440 |
| Oligodontia |
|
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... |
ORPHA:99798 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... |
OMIM:601493 |
| Pilodental Dysplasia With Refractive Errors |
|
Sparse scalp hair, Reticular hyperpigmentation, Hypodontia, Brittle hair, Brittle scalp hair, Con... |
OMIM:262020 |
| Fryns Macrocephaly |
|
Wide mouth, Macrodontia of permanent maxillary central incisor, Everted lower lip vermilion, Shor... |
OMIM:600302 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Vertebral segmentation defect, Cleft palate, Micrognathia, Choreoathetosis, Macrotia, Vertebral f... |
OMIM:221950 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... |
OMIM:612158 |
| Regional Odontodysplasia |
|
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... |
ORPHA:83450 |
| Dental Anomalies And Short Stature |
|
Hypertrichosis, Narrow vertebral interpedicular distance, Oligodontia, Platyspondyly, Microdontia... |
OMIM:601216 |
| Left Ventricular Noncompaction 10 |
|
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... |
OMIM:615396 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Polyarticular arthritis, Recurrent si... |
OMIM:619281 |
| Kbg Syndrome |
|
Delayed skeletal maturation, EEG abnormality, Thick eyebrow, Cleft palate, Vertebral fusion, Olig... |
ORPHA:2332 |
| Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Irregular vertebral endplates, Widely-spaced incisors, Oligodontia, Platyspondyly, Joint contract... |
OMIM:601668 |
| Cardiomyopathy, Dilated, 1Gg |
|
Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure |
OMIM:613642 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
| Liang-Wang Syndrome |
|
Wide mouth, Gingival overgrowth, Macrodontia of permanent maxillary central incisor, Macroglossia... |
OMIM:618729 |
| Left Ventricular Noncompaction 8 |
|
Left ventricular noncompaction, Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ve... |
OMIM:615373 |
| Intellectual Disability And Myopathy Syndrome |
|
Dental malocclusion, Lumbar hyperlordosis, Congenital hip dislocation, Scoliosis, Limited elbow e... |
OMIM:619719 |
| Tricho-Dento-Osseous Syndrome |
|
Taurodontia, Abnormal hair quantity, Increased bone mineral density, Periapical tooth abscess, Fr... |
ORPHA:3352 |
| Cleft Lip/Palate |
|
Dental malocclusion, Conductive hearing impairment, Velopharyngeal insufficiency, Abnormal number... |
ORPHA:199306 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Abnormal antihelix morphology, Kyphosis, Hypoplastic vertebral bodies, Hypodontia, Cleft palate, ... |
ORPHA:2916 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Lymphedema, Patent ductus arteri... |
OMIM:239850 |
| Intellectual Disability, Birk-Barel Type |
|
Protruding ear, High, narrow palate, Micrognathia, Short philtrum, Congenital finger flexion cont... |
ORPHA:166108 |
| Amelogenesis Imperfecta |
|
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... |
ORPHA:88661 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnormality of the dentition, A... |
ORPHA:363417 |
| Aarskog-Scott Syndrome |
|
Cleft upper lip, Genu recurvatum, Cleft palate, Everted lower lip vermilion, Abnormal vertebral s... |
ORPHA:915 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hepatomegaly, Muscular ventricular septal defect, Sudden cardiac death, Right bundle branch block... |
OMIM:115197 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic anemia, Pancytop... |
OMIM:614470 |
| Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
| Atrial Standstill |
|
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... |
ORPHA:1344 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Premature loss of teeth, Periodontitis, Lymphopenia, Osteopenia, Eosinophilia, Monocytosis, Aplas... |
ORPHA:486 |
| Brachydactyly, Type B1 |
|
Joint contracture of the hand, Hypoplastic sacrum, Hemivertebrae, Delayed cranial suture closure,... |
OMIM:113000 |
| Dentinogenesis Imperfecta |
|
Persistence of primary teeth, Fragile teeth, Joint hypermobility, Generalized hypoplasia of denta... |
ORPHA:49042 |
| Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Spinal canal stenosis, Dens in dente, Kyphoscoliosis, Hypoplastic vertebral bodies, Hypodontia, H... |
OMIM:263540 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Carpal synostosis, Cleft palate, Diastema, Microdontia, Radioulnar synostosis, Optic atrophy, Dee... |
OMIM:605282 |
| Anonychia With Flexural Pigmentation |
|
Hypermelanotic macule, Anonychia, Axillary and groin hyperpigmentation and hypopigmentation, Cari... |
ORPHA:69125 |
| Otopalatodigital Syndrome Type 1 |
|
Anodontia, Increased bone mineral density, Cleft palate, Abnormal vertebral segmentation and fusi... |
ORPHA:90650 |
| Clark-Baraitser syndrome |
|
Kyphosis, Maxillary lateral incisor microdontia, Genu recurvatum, Prominent median palatal raphe,... |
OMIM:300602 |
| Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Sparse scalp hair, Hypoplastic toenails, Tooth agenesis, Toenail dysplasia, Alopecia, Short philt... |
ORPHA:2325 |
| Griscelli Syndrome, Type 1 |
|
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... |
OMIM:214450 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cleft upper lip, Conductive hearing impairment, Abnormal pinna morphology, Sensorineural hearing ... |
OMIM:214300 |
| Gorlin Syndrome |
|
Hemivertebrae, Vertebral fusion, Scoliosis, Carious teeth, Melanocytic nevus, Mandibular prognath... |
ORPHA:377 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
High palate, Irregular vertebral endplates, Advanced ossification of carpal bones, Tooth agenesis... |
OMIM:618363 |
| Cohen Syndrome |
|
Neutropenia, Macrodontia of permanent maxillary central incisor, High, narrow palate, Thick eyebr... |
OMIM:216550 |
| Maxillonasal Dysplasia |
|
Tooth agenesis, Cleft palate, Open bite, Vertebral clefting, Scoliosis, Microdontia, Patchy disto... |
ORPHA:1248 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Hypoplastic toenails, Hypodontia, Everted lower lip vermilion, Abnormality of the dentition, Frag... |
ORPHA:2228 |
| Trichodentoosseous Syndrome |
|
Taurodontia, Increased bone mineral density, Fragile nails, Microdontia, Widely spaced teeth, Abn... |
OMIM:190320 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Large earlobe, Dental malocclusion, Narrow mouth, Macrodontia of permanent maxillary central inci... |
OMIM:257850 |
| Verheij Syndrome |
|
Hemivertebrae, Vertebral fusion, Short neck, Long philtrum, Scoliosis, Short nose, Hip dislocatio... |
OMIM:615583 |
| Adult Idiopathic Neutropenia |
|
Lymphopenia, Monocytosis, Recurrent aphthous stomatitis, Neutropenia, Monocytopenia |
ORPHA:2688 |
| Atkin-Flaitz Syndrome |
|
Kyphosis, Maxillary lateral incisor microdontia, Genu recurvatum, Prominent median palatal raphe,... |
OMIM:300431 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Tricuspid regurgitation, Left ventricular noncompaction, Aortic regurgitation, Patent ductus arte... |
OMIM:616501 |
| Growth Hormone Insensitivity Syndrome |
|
Delayed skeletal maturation, Type II diabetes mellitus, Everted lower lip vermilion, Delayed erup... |
ORPHA:181393 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Narrow mouth, Abnormal oral cavity morphology, Hypopigmentation of hair, Generalized hyperpigment... |
ORPHA:1355 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Narrow mouth, Cleft palate, Thin vermilion border, Long philtrum, Low-set, posteriorly rotated ea... |
OMIM:615502 |
| Congenital Pulmonary Lymphangiectasia |
|
Chylopericardium, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Pulmonic stenosis, Hydrops... |
ORPHA:2414 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Narrow palate, Lumbar hyperlordosis, Butterfly vertebrae, Hyperplasia of the maxilla, Scoliosis, ... |
ORPHA:313892 |
| Nephrosialidosis |
|
Ascites, Pericardial effusion |
OMIM:256150 |
| Isolated Klippel-Feil Syndrome |
|
Cervical C2/C3 vertebral fusion, Cleft palate, Abnormal vertebral segmentation and fusion, Short ... |
ORPHA:2345 |
| Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
| Split-Hand/Foot Malformation 3 |
|
High palate, Nail dysplasia, Narrow mouth, Abnormal pinna morphology, Microretrognathia, Cleft pa... |
OMIM:246560 |
| Frontometaphyseal Dysplasia 1 |
|
High palate, Cleft palate, Craniosynostosis, Increased density of long bone diaphyses, Delayed er... |
OMIM:305620 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Supraventricular tachycardia, Abnormal left ventricular function, Muscular dystrophy, Sudden card... |
ORPHA:300751 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Scoliosis, Abnormal auditory evoked potentials, Facial... |
OMIM:601382 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Reduced systolic function |
OMIM:604765 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Vertebral segmentation defect, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, Block verteb... |
OMIM:277300 |
| Oculotrichodysplasia |
|
Nail dysplasia, Widely spaced primary teeth, Sparse scalp hair, Sparse eyelashes, Sparse axillary... |
OMIM:257960 |
| Hemifacial Atrophy, Progressive |
|
Dental malocclusion, Kyphosis, Patchy alopecia, Microtia, Short mandibular rami, Poliosis, Delaye... |
OMIM:141300 |
| Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Macular hyperpigmented dermopathy, Carious teeth, Dental enamel pits, Nail dystrophy, Dystrophic ... |
OMIM:619787 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
| Fixed Subaortic Stenosis |
|
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... |
ORPHA:3092 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Carpal synostosis, Hip contracture, Multiple pterygia, Spondylolisthesis, Cleft palate, Craniosyn... |
OMIM:178110 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Congestive heart failure, Atrial septal defect, Aortic valve stenosis, Mac... |
ORPHA:363705 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Refractory anemia, Leukopenia, Monocytosis, Acute myeloid leukemia |
OMIM:616871 |
| Waardenburg Syndrome Type 1 |
|
Cleft palate, White eyebrow, Short nose, Tented upper lip vermilion, Mandibular prognathia, White... |
ORPHA:894 |
| Pyle Disease |
|
Reduced bone mineral density, Platyspondyly, Scoliosis, Delayed eruption of teeth, Limited elbow ... |
OMIM:265900 |
| Pili Torti |
|
Pili torti, Abnormal eyebrow morphology, Abnormality of hair texture, Brittle hair, Alopecia, Abn... |
ORPHA:2889 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Premature loss of teeth, Thin vermilion border, Short philtrum, Platyspondyly, Hypoplasia of the ... |
OMIM:156510 |
| Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
| Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Hypodontia, Malar flattening, Maxillozygomatic hypoplasia, Delayed eruption of teeth, Low-set, po... |
ORPHA:2972 |
| Griscelli Syndrome, Type 2 |
|
Melanin pigment aggregation in hair shafts, Hemophagocytosis, Hypopigmentation of the skin, Hepat... |
OMIM:607624 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Left ventricular noncompaction, Hypertrophic cardiomyopathy |
OMIM:617228 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
| Dentin Dysplasia, Type I |
|
Taurodontia, Dentinogenesis imperfecta limited to primary teeth, Microdontia, Pulp obliteration, ... |
OMIM:125400 |
| Koolen-De Vries Syndrome |
|
Vertebral segmentation defect, Kyphosis, Protruding ear, Narrow palate, Abnormality of hair textu... |
ORPHA:96169 |
| Tietz Syndrome |
|
Hypopigmentation of the skin, Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmen... |
ORPHA:42665 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
High palate, Cervical C2/C3 vertebral fusion, Flexion contracture, Everted lower lip vermilion, M... |
OMIM:616549 |
| Coronary Arterial Fistula |
|
Angina pectoris, Systolic heart murmur, Pedal edema, Cardiomegaly, Abnormal heart morphology, Pal... |
ORPHA:2041 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
High palate, Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormali... |
OMIM:617519 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Vertebral segmentation defect, Kyphosis, EEG abnormality, Abnormal hair quantity, Open bite, Redu... |
ORPHA:2617 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
High palate, Facial diplegia, Low anterior hairline, Decreased sensory nerve conduction velocity,... |
OMIM:218000 |
| Craniofacial-Deafness-Hand Syndrome |
|
Sensorineural hearing impairment, Short nose, Hypoplasia of the maxilla, Malar flattening |
OMIM:122880 |
| Mandibulofacial Dysostosis With Alopecia |
|
Low-set ears, Conductive hearing impairment, Protruding ear, Cleft palate, Everted lower lip verm... |
OMIM:616367 |
| Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Arrhythmia, Polyhydramnios, Lymphedema, Pleural effusion, Generalized ... |
ORPHA:1041 |
| Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... |
OMIM:115200 |
| Atkin-Flaitz Syndrome |
|
Maxillary lateral incisor microdontia, Everted lower lip vermilion, Abnormality of the dentition,... |
ORPHA:1193 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Flexion contracture, Short stature, Left ventricular noncompaction, Increased intramyocellular li... |
OMIM:252011 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari... |
OMIM:204700 |
| Arthrogryposis, Distal, Type 2A |
|
High palate, Flexion contracture of finger, Pursed lips, Short neck, Short nose, Mandibular progn... |
OMIM:193700 |
| Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Oral mucosal blisters, Hypodontia, Patchy alopecia, Fragile nails, Camptodactyly of finger, Cario... |
OMIM:226650 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... |
ORPHA:555874 |
| Stickler Syndrome Type 1 |
|
Sensorineural hearing impairment, Cleft palate, Osteoarthritis, Platyspondyly, Long philtrum, Abn... |
ORPHA:90653 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Pili torti, Sparse hair, Brittle hair, Sparse eyelashes, Sparse body hair, Conical primary inciso... |
OMIM:602400 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Amelogenesis imperfecta, Carious teeth |
OMIM:615887 |
| Hidrotic Ectodermal Dysplasia |
|
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... |
ORPHA:189 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Glucose intolerance, Prominent metopic ridge, Scoliosis, Fused cervical vertebrae, Thoracic hemiv... |
OMIM:309620 |
| Otodental Dysplasia |
|
Sensorineural hearing impairment, Taurodontia, Agenesis of premolar, Long philtrum, Delayed erupt... |
OMIM:166750 |
| Trisomy 4P |
|
Abnormal antihelix morphology, Low anterior hairline, Thick eyebrow, Abnormality of the dentition... |
ORPHA:1738 |
| Lowry-Maclean Syndrome |
|
Widely patent coronal suture, High, narrow palate, Cleft palate, Craniosynostosis, Retrognathia, ... |
ORPHA:2409 |
| Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures |
|
Protruding ear, Widely-spaced incisors, Thick eyebrow, Interictal epileptiform activity, Optic at... |
OMIM:618737 |
| Osteolysis Syndrome, Recessive |
|
Osteolytic defects of the proximal phalanges of the hand, Osteolytic defects of the middle phalan... |
OMIM:259610 |
| Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion |
ORPHA:48686 |
| Lateral Meningocele Syndrome |
|
High palate, Conductive hearing impairment, Abnormality of the middle ear ossicles, Kyphosis, Scl... |
OMIM:130720 |
| Maxillonasal Dysplasia, Binder Type |
|
Large earlobe, Dental malocclusion, Vertebral clefting, Patchy distortion of vertebrae, Short nose |
OMIM:155050 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Flexion contracture, Fused thoracic vertebrae, Cleft palate, Short neck, Scoliosis, Fused cervica... |
OMIM:618469 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Sparse scalp hair, Low-set ears, Notched primary central incisor, High anterior hairline |
OMIM:620062 |
| Choanal Atresia And Lymphedema |
|
Lymphedema, Pericardial effusion |
OMIM:613611 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Kyphosis, Abnormal reticulocyte morphology, Micrognathia, Short neck, Abnormality of dental morph... |
ORPHA:2522 |
| Florid Cemento-Osseous Dysplasia |
|
Avascular necrosis, Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abno... |
ORPHA:83451 |
| Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Enamel hypoplasia, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta |
OMIM:617297 |
| Flynn-Aird Syndrome |
|
Joint stiffness, Kyphoscoliosis, Increased bone mineral density, Alopecia, Osteoporosis, Carious ... |
OMIM:136300 |
| Hemifacial Hyperplasia |
|
Dental malocclusion, Hypoplasia of the maxilla |
OMIM:133900 |
| Multiple Synostoses Syndrome 2 |
|
Carpal synostosis, Vertebral fusion, Proximal symphalangism, Tarsal synostosis, Humeroradial syno... |
OMIM:610017 |
| Craniofacial-Deafness-Hand Syndrome |
|
Sensorineural hearing impairment, Narrow mouth, Camptodactyly of finger, Ulnar deviation of the w... |
ORPHA:1529 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Partial albinism, Hypopigmentation of hair, Neutropenia |
ORPHA:90023 |
| Shashi-Pena Syndrome |
|
Kyphosis, Accelerated skeletal maturation, Retrognathia, Scoliosis, Osteoporosis, Hypoglycemia, P... |
OMIM:617190 |
| Otodental Syndrome |
|
Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Abnormality of canine, Abn... |
ORPHA:2791 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Kyphosis, Macroglossia, Scoliosis, Hyperlordosis, Facial palsy, Vertebral fusion, Achilles tendon... |
OMIM:606612 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Premature loss of primary teeth, Abnormal fingernail morphology, Fine hair, Abnormal to... |
ORPHA:248 |
| Asymmetric Short Stature Syndrome |
|
Dental crowding, Micrognathia, Lumbar scoliosis, Fused cervical vertebrae |
OMIM:108450 |
| Craniolenticulosutural Dysplasia |
|
High palate, Wide mouth, Premature loss of teeth, Sparse hair, Brittle hair, Thin vermilion borde... |
ORPHA:50814 |
| Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Cardiac shunt, Anomalous p... |
ORPHA:860 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
| Multiple Pterygium Syndrome, X-Linked |
|
Cleft upper lip, Multiple pterygia, Joint dislocation, Cleft palate, Flexion contracture, Microgn... |
OMIM:312150 |
| Sick Sinus Syndrome 2 |
|
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... |
OMIM:163800 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
High palate, Hypertrichosis, Cleft palate, Craniosynostosis, Hemivertebrae, Short neck, Short nos... |
OMIM:213980 |
| Nablus Mask-Like Facial Syndrome |
|
High palate, Sparse hair, Sparse eyebrow, Craniosynostosis, Abnormality of the dentition, Short n... |
OMIM:608156 |
| Cardiomyopathy, Familial Hypertrophic 27 |
|
Tricuspid regurgitation, Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, M... |
OMIM:618052 |
| Abcd Syndrome |
|
Polycythemia, Albinism, White eyebrow, White eyelashes, Abnormal auditory evoked potentials, Tota... |
OMIM:600501 |
| Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... |
OMIM:601494 |
| Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... |
OMIM:618773 |
| Premature Aging Syndrome, Penttinen Type |
|
Sensorineural hearing impairment, Sparse hair, Thin vermilion border, Micrognathia, Osteopenia, D... |
OMIM:601812 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Protruding ear, Broad eyebrow, Hypoplasia of the maxilla, Synophrys, Wide nasal bridge |
OMIM:618302 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Sensorineural hearing impairment, Vertebral segmentation defect, Carpal synostosis, Abnormality o... |
OMIM:272460 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Kyphosis, Intention tremor, Micrognathia, Camptodactyly of finger, Scoliosis, Osteoporosis, Abnor... |
ORPHA:48431 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Joint stiffness, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodies... |
ORPHA:2064 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
High palate, Abnormality of the dentition, Short neck, Platyspondyly, Biconcave vertebral bodies,... |
ORPHA:93315 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Sensorineural hearing impairment, Conductive hearing impairment, Cervical C2/C3 vertebral fusion,... |
OMIM:118100 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Abnormal cardiac septum morphology, Hepatomegaly, Hepatosplenomegaly, Edema, Ascites, Pericardial... |
OMIM:608776 |
| 8Q22.1 Microdeletion Syndrome |
|
Abnormal antihelix morphology, Abnormal pinna morphology, Sparse eyebrow, Sparse eyelashes, Crani... |
ORPHA:178303 |
| Keratoconus Posticus Circumscriptus |
|
Cleft upper lip, Cleft palate, Abnormal vertebral segmentation and fusion, Short neck, Limited el... |
OMIM:244600 |
| Eem Syndrome |
|
Sparse scalp hair, Abnormality of retinal pigmentation, Absent eyebrow, Sparse body hair, Microdo... |
ORPHA:1897 |
| Acrocraniofacial Dysostosis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Cleft palate, Craniosynostosis, ... |
OMIM:201050 |
| Rubinstein-Taybi Syndrome 2 |
|
High palate, Dental malocclusion, Posterior helix pit, Narrow palate, Hirsutism, Retrognathia, Mi... |
OMIM:613684 |
| Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair |
|
Oligodontia, Taurodontia, Sparse hair |
OMIM:272980 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral segmentation defect, Hemivertebrae, Spina bifida occulta, Block vertebrae, Abnormality ... |
OMIM:613686 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Sparse scalp hair, Hypoplastic toenails, Abnormal intervertebral disk morphology, Thin vermilion ... |
ORPHA:2701 |
| Pycnodysostosis |
|
High palate, Abnormality of the dentition, Carious teeth, Hypoplasia of the maxilla, Spondylolist... |
ORPHA:763 |
| Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Abnormal pinna morphology, Monocytosis |
OMIM:610680 |
| Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... |
OMIM:618654 |
| Odontoonychodermal Dysplasia |
|
Nail dysplasia, Widely spaced primary teeth, Sparse scalp hair, Hypodontia, Sparse eyebrow, Short... |
OMIM:257980 |
| Waardenburg Syndrome, Type 2F |
|
Sensorineural hearing impairment, Congenital sensorineural hearing impairment, Hypermelanotic mac... |
OMIM:619947 |
| Naxos Disease |
|
Prolonged QRS complex, Congestive heart failure, Premature ventricular contraction, Right ventric... |
OMIM:601214 |
| Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Everted lower lip vermilion, Congenital giant melanocytic nevus, Lo... |
OMIM:137550 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Multiple pterygia, Joint dislocation, Flexion contracture, Cleft palate, Micrognathia, Abnormal c... |
OMIM:253290 |
| Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis |
|
Enamel hypoplasia, Increased overbite, Shovel-shaped maxillary central incisors, Dental crowding |
OMIM:600907 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Enamel hypoplasia, Alopecia, Ridged nail, Carious teeth |
OMIM:614564 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Sensorineural hearing impairment, Sparse axillary hair, Sparse facial hair, Osteopenia, Genu valg... |
OMIM:608154 |
| Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Aplasia of the inner ear, Micrognathia, Microtia, first degree, Microdontia, Widely spaced teeth,... |
OMIM:610706 |
| Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Large fleshy ears, Flexion contracture, Alopecia, Generalized hypoplasia of dental enamel, Thorac... |
OMIM:203550 |
| Frontonasal Dysplasia 1 |
|
Low-set ears, Conductive hearing impairment, Median cleft palate, Joint contracture of the hand, ... |
OMIM:136760 |
| Ramon Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Generalized hirsutism, Narrow pa... |
ORPHA:3019 |
| Intermediate Osteopetrosis |
|
Sandwich appearance of vertebral bodies, Dental malocclusion, Cortical sclerosis, Osteomyelitis, ... |
ORPHA:210110 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Monocytosis, Thrombocytopenia |
OMIM:619644 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Dental malocclusion, Maxillary lateral incisor microdontia, EEG abnormality, Abnormality of hair ... |
ORPHA:73223 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
High palate, Postprandial hyperglycemia, Hypertrichosis, Hyperinsulinemia, Diabetic ketoacidosis,... |
OMIM:262190 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Wrist pain, Metatarsal osteolysis, Micrognathia, Osteopenia, Ankle pain, Bilateral elbow dislocat... |
OMIM:166300 |
| Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular bigeminy, Left ventricular noncompaction, Ventri... |
OMIM:616249 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Pericardial effusion |
OMIM:614684 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Uplifted earlobe, Kyphosis, Narrow palate, Macrodontia of permanent maxillary central incisor, Ge... |
ORPHA:364028 |
| Dislocation Of The Hip-Dysmorphism Syndrome |
|
Narrow mouth, Malar flattening, Prominence of the premaxilla, Congenital hip dislocation, Abnorma... |
ORPHA:2412 |
| Mental Retardation, Buenos Aires Type |
|
High palate, Wide mouth, Dental malocclusion, Protruding ear, Fair hair, Blue irides, Curly eyela... |
OMIM:249630 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Type II diabetes mellitus, Scoliosis, Fused cervical vertebrae, Abnormal sacrum morphology, Thora... |
ORPHA:1436 |
| Fibrodysplasia Ossificans Progressiva |
|
Sensorineural hearing impairment, Conductive hearing impairment, Alopecia, Ectopic ossification i... |
OMIM:135100 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Spinal canal stenosis, Fair hair, Blue irides, Malar flattening, Accelerated skeletal maturation,... |
OMIM:614613 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Abnormal dental enamel morphology, Hypoplastic toenails, Tooth agenesis, Everted lower lip vermil... |
ORPHA:1028 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Sensorineural hearing impairment, Low-set ears, Gingival overgrowth, Narrow mouth, Narrow palate,... |
OMIM:235510 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Hypopigmentation of the skin, Hypopigmentation of hair, Platyspondyly, Osteoporosis, Al... |
ORPHA:2786 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Cleft upper lip, Conductive hearing impairment, Hypodontia, Cleft palate, Hyperconvex nail, Spars... |
OMIM:106260 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Sparse hair, Alopecia, Abnormality of the dentition, Carious teeth, Sparse lateral eyebrow, Cleft... |
ORPHA:3253 |
| Lymphatic Malformation 7 |
|
Facial edema, Pulmonary edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema... |
OMIM:617300 |
| Waardenburg Syndrome, Type 3 |
|
Sensorineural hearing impairment, Carpal synostosis, Hypopigmented skin patches, Blue irides, Joi... |
OMIM:148820 |
| Atelosteogenesis, Type Iii |
|
Knee dislocation, Malar flattening, Cleft palate, Horizontal sacrum, Micrognathia, Short neck, Sc... |
OMIM:108721 |
| X-Linked Intellectual Disability, Porteous Type |
|
Frontal balding, Cupped ear, Short philtrum, Hypoplasia of the maxilla, Macrotia, Mandibular prog... |
ORPHA:93945 |
| Ellis Van Creveld Syndrome |
|
Nail dysplasia, Hypoplastic toenails, Abnormal hair morphology, Delayed skeletal maturation, Hypo... |
ORPHA:289 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Ventricular septal defect, Bradycardia, Hypertrophic cardiomyopathy, Intrauterine growth retardat... |
OMIM:618775 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Malar flattening, Abnormality of the vertebral column, Hypoplas... |
OMIM:109120 |
| Diaphanospondylodysostosis |
|
Abnormal vertebral segmentation and fusion, Short neck, Cleft palate, Absent or minimally ossifie... |
ORPHA:66637 |
| Ring Chromosome 21 Syndrome |
|
EEG abnormality, Fused thoracic vertebrae, Scoliosis, Thoracic hemivertebrae, Multiple cafe-au-la... |
ORPHA:1445 |
| Rapp-Hodgkin Syndrome |
|
Cleft upper lip, Narrow mouth, Progressive alopecia, Velopharyngeal insufficiency, Hypodontia, Cl... |
OMIM:129400 |
| Pericardial Effusion, Chronic |
|
Pericardial effusion, Constrictive pericarditis |
OMIM:260900 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Wide mouth, Triangular mouth, Hypoplastic sacrum, Hemivertebrae, Short neck, Short nose, Long eye... |
OMIM:268310 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
High palate, Sensorineural hearing impairment, Lymphopenia, Cleft palate, Splenomegaly, Hypoplasi... |
OMIM:612541 |
| Lujan-Fryns Syndrome |
|
High palate, Protruding ear, Abnormality of the dentition, Short philtrum, Micrognathia, Scoliosi... |
ORPHA:776 |
| Mosaic Trisomy 20 |
|
Spinal canal stenosis, Vertebral segmentation defect, Kyphosis, Limited pronation/supination of f... |
ORPHA:1724 |
| Localized Junctional Epidermolysis Bullosa |
|
Sparse axillary hair, Sparse pubic hair, Atrophic, patchy alopecia, Enamel hypoplasia, Dystrophic... |
ORPHA:251393 |
| Cleft Velum |
|
Conductive hearing impairment, Velopharyngeal insufficiency, Hypoplasia of the maxilla, Cleft sof... |
ORPHA:99772 |
| Acrodysostosis |
|
Spinal canal stenosis, Accelerated skeletal maturation, Open bite, Wide nasal bridge, Delayed eru... |
ORPHA:950 |
| Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Optic atrophy, Tremor, Generalized hyperp... |
ORPHA:33445 |
| Kniest Dysplasia |
|
Enlarged joints, Joint stiffness, Laryngotracheomalacia, Flexion contracture of finger, Abnormal ... |
ORPHA:485 |
| Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Increased blood pressure, Edema, ... |
OMIM:619487 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Sensorineural hearing impairment, Kyphosis, Sparse hair, Brittle hair, Coarse hair, Camptodactyly... |
ORPHA:1883 |
| Amelogenesis Imperfecta, Type Ia |
|
Taurodontia, Amelogenesis imperfecta, Generalized microdontia |
OMIM:104530 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
| Timothy Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, P... |
OMIM:601005 |
| Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Splenomegaly, Angioedema, Pleural effusion, Abnormal heart valve morphology, Ascite... |
ORPHA:36412 |
| Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Bone pain, Mandibular osteomyelitis, Osteomyelitis, Joint dislocat... |
ORPHA:53 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
High palate, Exaggerated startle response, External ear malformation, Tented upper lip vermilion,... |
ORPHA:438216 |
| Autosomal Recessive Distal Osteolysis Syndrome |
|
Abnormality of the dentition, Osteolysis, Hypoplasia of the maxilla |
ORPHA:2776 |
| Late-Onset Junctional Epidermolysis Bullosa |
|
Oral mucosal blisters, Anonychia, Carious teeth, Enamel hypoplasia, Nail dystrophy |
ORPHA:79406 |
| 3Mc Syndrome 2 |
|
Cleft upper lip, Torticollis, Cleft palate, Prominence of the premaxilla, Craniosynostosis, Abnor... |
OMIM:265050 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
High palate, Wide mouth, Dental malocclusion, Narrow palate, Microtia, Camptodactyly, Deep philtr... |
OMIM:227330 |
| 20P12.3 Microdeletion Syndrome |
|
Narrow mouth, Malar flattening, Microtia, Long philtrum, Hypoplasia of the maxilla, Thickened hel... |
ORPHA:261295 |
| Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism |
|
Hypoplasia of the maxilla, Craniosynostosis |
OMIM:608432 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Atrial septal defect, Tachycardia, Exercise-induced rhabdomyolysis, Arrhythmia, Ven... |
ORPHA:26793 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral segmentation defect, Vertebral fusion, Sacral dimple |
OMIM:618845 |
| Attrv122I Amyloidosis |
|
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Tendon rupture, Atrial arrhythmia, R... |
ORPHA:85451 |
| Malan Syndrome |
|
Gingival overgrowth, Narrow mouth, Accelerated skeletal maturation, Everted lower lip vermilion, ... |
OMIM:614753 |
| Mulibrey Nanism |
|
Myocardial fibrosis, Congestive heart failure, Hepatomegaly, Short stature, Hydrops fetalis, Grow... |
OMIM:253250 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Laryngotracheomalacia, Delayed ossification of carpal bones, Abnormally ossified vertebrae, Gloss... |
ORPHA:93346 |
| Otopalatodigital Syndrome Type 2 |
|
Abnormal pinna morphology, Cleft palate, Short nose, Elbow dislocation, Carpal synostosis, Increa... |
ORPHA:90652 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
High palate, Protruding ear, Patchy alopecia, Camptodactyly of finger, Hypoplasia of the maxilla,... |
ORPHA:85279 |
| Waardenburg Syndrome, Type 2A |
|
Sensorineural hearing impairment, Numerous pigmented freckles, Partial albinism, Albinism, White ... |
OMIM:193510 |
| Spondylocostal Dysostosis 5 |
|
Butterfly vertebrae, Hemivertebrae, Short neck, Scoliosis, Low back pain, Vertebral fusion |
OMIM:122600 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Abnormal antihelix morphology, Large earlobe, Accessory oral frenulum, Conductive hearing impairm... |
ORPHA:79113 |
| Congenital Enterovirus Infection |
|
Hydrops fetalis, Myocarditis, Hypotension, Polyhydramnios, Cardiomyopathy, Pleural effusion, Feta... |
ORPHA:292 |
| Cohen Syndrome |
|
Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, Short philtrum, Macrodontia, Opti... |
ORPHA:193 |
| Piebaldism |
|
Heterochromia iridis, Hypopigmented skin patches, Hypopigmentation of hair, Long philtrum, White ... |
ORPHA:2884 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
High palate, Hyperinsulinemia, Sparse hair, Alopecia, Mottled pigmentation, Acroosteolysis of dis... |
OMIM:608612 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
High palate, Multiple joint contractures, Triangular mouth, Cleft palate, Short neck, Pterygium, ... |
OMIM:265000 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Persistence of primary teeth, Crani... |
OMIM:259710 |
| Cardiac-Urogenital Syndrome |
|
Atrial septal defect, Hypoplastic left heart, Congenital diaphragmatic hernia, Scimitar anomaly, ... |
OMIM:618280 |
| Spondylospinal Thoracic Dysostosis |
|
Micrognathia, Multiple pterygia, Hypoplasia of the maxilla, Arthrogryposis multiplex congenita |
OMIM:601809 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Premature loss of teeth, Generalized reticulate brown pigmentation, Flexion contracture of finger... |
ORPHA:69087 |
| Tooth Agenesis, Selective, X-Linked, 1 |
|
Anodontia, Tooth agenesis, Agenesis of premolar, Hypodontia, Agenesis of molar, Agenesis of later... |
OMIM:313500 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Fragile nails, Premature loss of teeth, Reticular hyperpigmentation, Carious teeth |
OMIM:161000 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Facial palsy, Scoliosis, Abnormal cranial nerve morpho... |
OMIM:601596 |
| Trichorhinophalangeal Syndrome, Type I |
|
Sparse hair, Osteopenia, Delayed eruption of teeth, Microdontia, Carious teeth, Accelerated bone ... |
OMIM:190350 |
| Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome |
|
Abnormal antihelix morphology, Conductive hearing impairment, Supernumerary tooth, Micrognathia, ... |
ORPHA:3145 |
| Marshall Syndrome |
|
Thick upper lip vermilion, Sensorineural hearing impairment, Macrodontia of permanent maxillary c... |
OMIM:154780 |
| Cerebellar-Facial-Dental Syndrome |
|
Alveolar ridge overgrowth, Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary c... |
ORPHA:444072 |
| Familial Atrial Myxoma |
|
Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation, Heart murmur, Pulmonic... |
ORPHA:615 |
| Angelman Syndrome |
|
Wide mouth, EEG abnormality, Fair hair, Blue irides, Macroglossia, Hypopigmentation of the skin, ... |
OMIM:105830 |
| Wildervanck Syndrome |
|
Congenital sensorineural hearing impairment, Short neck, Pseudopapilledema, Fused cervical verteb... |
ORPHA:3456 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Wide mouth, EEG abnormality, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopig... |
ORPHA:411515 |
| Cranioectodermal Dysplasia |
|
Taurodontia, Hypodontia, Sparse hair, Everted lower lip vermilion, Craniosynostosis, Abnormality ... |
ORPHA:1515 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Tricuspid regurgitation, Left ventricular hypertrophy, Left ventricular noncompacti... |
OMIM:619167 |
| Nance-Horan Syndrome |
|
Mulberry molar, Diastema, Screwdriver-shaped incisors, Supernumerary maxillary incisor, Macrotia |
OMIM:302350 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Agenesis of central incisor, Long upper lip, Cleft palate, Everted lower lip vermilion, Prominenc... |
ORPHA:364577 |
| Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Premature graying of hair, Abnormality of retinal pigmentation, Hypo... |
ORPHA:897 |
| Trichothiodystrophy 2, Photosensitive |
|
Agenesis of maxillary lateral incisor, Coarse hair, Tiger tail banding |
OMIM:616390 |
| Cerebellofaciodental Syndrome |
|
Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary central incisor, Sparse eyeb... |
OMIM:616202 |
| Junctional Epidermolysis Bullosa Inversa |
|
Oral mucosal blisters, Anonychia, Carious teeth, Enamel hypoplasia, Nail dystrophy |
ORPHA:79405 |
| Duane Retraction Syndrome |
|
Sensorineural hearing impairment, Blepharospasm, Irregular hyperpigmentation, Cleft palate, Evert... |
ORPHA:233 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Right atrial enlargement, Restrictive cardiomyopathy, Nonimmune hydrops fetalis, Endocardial fibr... |
OMIM:619313 |
| Drug-Induced Lupus Erythematosus |
|
Pericarditis, Pericardial effusion, Prolonged QTc interval |
ORPHA:231111 |
| Marshall Syndrome |
|
High palate, Thick upper lip vermilion, Sensorineural hearing impairment, Sparse hair, Cleft pala... |
ORPHA:560 |
| Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum |
|
Eruption failure, Maxillozygomatic hypoplasia, Genu valgum, Posteriorly rotated ears, Alveolar pr... |
OMIM:273050 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Sparse hair, Short philtrum, Short neck, Short nose, Hypoplasia of teeth, Micrognathia, Long phil... |
ORPHA:391408 |
| Lamb-Shaffer Syndrome |
|
Micrognathia, Scoliosis, Optic atrophy, Thoracic kyphosis, Fused cervical vertebrae, Thick vermil... |
ORPHA:530983 |
| Gaucher Disease Type 1 |
|
Hepatomegaly, Splenomegaly, Pulmonary arterial hypertension, Pedal edema, Abnormal myocardium mor... |
ORPHA:77259 |
| Monosomy 18P |
|
Abnormal antihelix morphology, Protruding ear, Kyphoscoliosis, Tooth malposition, Cleft palate, H... |
ORPHA:1598 |
| Waardenburg Syndrome Type 2 |
|
Sensorineural hearing impairment, Premature graying of hair, Hypopigmented skin patches, Hypopigm... |
ORPHA:895 |
| Cockayne Syndrome Type 1 |
|
Anodontia, Widely spaced primary teeth, Absent brainstem auditory responses, Hypoplasia of the pr... |
ORPHA:90321 |
| Koolen-De Vries Syndrome |
|
High palate, Abnormality of hair texture, Cleft palate, Overfolded helix, Open mouth, Sacral dimp... |
OMIM:610443 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
High palate, Cervical C2/C3 vertebral fusion, Thoracic scoliosis, Knee dislocation, Joint hypermo... |
OMIM:618000 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Left ventricular hypertrophy, Oligohydramnios, Cardiomegaly, Cardiomyopathy, Myopathy |
OMIM:617713 |
| Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:618652 |
| Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Sensorineural hearing impairment, Pili torti, Abnormal eyebrow morphology, Taurodontia, Abnormal ... |
ORPHA:3220 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... |
OMIM:616648 |
| Immunodeficiency 21 |
|
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... |
OMIM:614172 |
| Dyskeratosis Congenita |
|
Sparse hair, Alopecia, Abnormality of the dentition, Carious teeth, Hypoplasia of the maxilla, Ap... |
ORPHA:1775 |
| Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... |
OMIM:613426 |
| Amelogenesis Imperfecta, Type Ic |
|
Taurodontia, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown discolorati... |
OMIM:204650 |
| Crouzon Syndrome |
|
Conductive hearing impairment, Narrow palate, Abnormal sacrum morphology, Optic atrophy, Multiple... |
ORPHA:207 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Wide mouth, Biconcave vertebral bodies, Scoliosis, Optic disc p... |
OMIM:619260 |
| Danon Disease |
|
Myocardial fibrosis, Wolff-Parkinson-White syndrome, Myocardial necrosis, EMG: myopathic abnormal... |
OMIM:300257 |
| Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair |
OMIM:606952 |
| Mohr-Tranebjaerg Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... |
ORPHA:52368 |
| Tooth Agenesis, Selective, 7 |
|
Agenesis of permanent teeth, Taurodontia |
OMIM:616724 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
High palate, Sensorineural hearing impairment, Narrow mouth, Conductive hearing impairment, Micro... |
ORPHA:1307 |
| Geroderma Osteodysplasticum |
|
Irregular vertebral endplates, Recurrent fractures, Periodontitis, Beaking of vertebral bodies, K... |
OMIM:231070 |
| Nager Syndrome |
|
Wide mouth, Joint stiffness, Cleft palate, Microtia, Aplasia/Hypoplasia of the eyebrow, Micrognat... |
ORPHA:245 |
| Robinow Syndrome |
|
Dental crowding, Triangular mouth, Hemivertebrae, Short nose, Ankyloglossia, Tooth malposition, M... |
ORPHA:97360 |
| Cardioacrofacial Dysplasia 1 |
|
Nail dysplasia, Accessory oral frenulum, Short philtrum, Diastema, Genu valgum, Conical tooth, Hy... |
OMIM:619142 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
C1-C2 subluxation, Short nose, Hypoplasia of the maxilla, Epiphyseal stippling of toe phalanges, ... |
ORPHA:79345 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis |
OMIM:613702 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae, Hearing impairment, Pseudopapilledema |
OMIM:314600 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
High palate, Kyphosis, Scoliosis, Hypoplasia of the maxilla, Mandibular prognathia |
OMIM:300676 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Conductive hearing impairment, Malar flattening, Abnormal sacrum morphology, Abnormal form of the... |
ORPHA:93262 |
| Kbg Syndrome |
|
Protruding ear, Low anterior hairline, Thick eyebrow, Vertebral fusion, Oligodontia, Short neck, ... |
OMIM:148050 |
| Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Malar flattening, Coronal craniosynostosis, Micrognathia, Optic disc coloboma, Aglos... |
OMIM:241310 |
| Pallister W Syndrome |
|
Agenesis of central incisor, Joint contracture of the hand, Frontal upsweep of hair, Camptodactyl... |
OMIM:311450 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Kyphosis, Macroglossia, Scoliosis, Hyperlordosis, Vertebral fusion, Achilles tendon contracture |
OMIM:607155 |
| Woolly Hair |
|
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... |
ORPHA:170 |
| Tooth Agenesis, Selective, 4 |
|
Sparse scalp hair, Tooth agenesis, Sparse eyebrow, Sparse body hair, Short eyelashes, Agenesis of... |
OMIM:150400 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Sensorineural hearing impairment, Taurodontia, High, narrow palate, Short philtrum, Hypopigmentat... |
ORPHA:3214 |
| Orofaciodigital Syndrome Type 2 |
|
High palate, Cleft palate, Tongue nodules, Hypoplasia of teeth, Peg-shaped maxillary lateral inci... |
ORPHA:2751 |
| Dysostosis, Stanescu Type |
|
Kyphosis, Tooth agenesis, Increased bone mineral density, Macroglossia, Abnormality of the dentit... |
ORPHA:1798 |
| Cirrhotic Cardiomyopathy |
|
Fourth heart sound, Right atrial enlargement, Hepatomegaly, Pulmonary edema, Left ventricular hyp... |
ORPHA:57777 |
| Autosomal Recessive Spastic Paraplegia Type 77 |
|
Kyphoscoliosis, Macrodontia of permanent maxillary central incisor, Retrognathia, Intention tremo... |
ORPHA:466722 |
| Pde4D Haploinsufficiency Syndrome |
|
Irregular vertebral endplates, Accelerated skeletal maturation, Malar flattening, Micrognathia, S... |
ORPHA:439822 |
| Ohdo Syndrome |
|
Narrow mouth, Sparse eyebrow, Microtia, Thin vermilion border, Micrognathia, Long philtrum, Wide ... |
OMIM:249620 |
| Muenke Syndrome |
|
Sensorineural hearing impairment, Carpal synostosis, Hypermelanotic macule, High, narrow palate, ... |
ORPHA:53271 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Conductive hearing impairment, Anterior vertebral fusion, Malar flattening, Microtia, Long philtr... |
OMIM:171480 |
| Neutropenia, Severe Congenital, X-Linked |
|
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
| Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Hemothorax, Right ventricular failure, Elevated pulmonary artery pressure, Pedal... |
ORPHA:199241 |
| Hypophosphatasia, Adult |
|
Recurrent fractures, Chondrocalcinosis, Premature loss of primary teeth, Osteomalacia, Premature ... |
OMIM:146300 |
| Qazi-Markouizos Syndrome |
|
Torticollis, EEG abnormality, Delayed ossification of carpal bones, High, narrow palate, Dysharmo... |
ORPHA:3010 |
| Flynn-Aird Syndrome |
|
Joint stiffness, Kyphosis, EEG abnormality, Type II diabetes mellitus, Alopecia, Scoliosis, Cario... |
ORPHA:2047 |
| Ackerman Syndrome |
|
Broad philtrum, Taurodontia |
OMIM:200970 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Tricuspid regurgitation, Hypertrophic cardiomyopathy, Ventricular hypertrophy, Pulmonary arterial... |
OMIM:619051 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Nail dysplasia, Abnormality of hair texture, Woolly hair, Sparse hair, Brittle hair, Sparse eyela... |
OMIM:234050 |
| Pycnodysostosis |
|
Narrow palate, Persistence of primary teeth, Hypodontia, Spondylolisthesis, Increased bone minera... |
OMIM:265800 |
| Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... |
ORPHA:439 |
| Rubinstein-Taybi Syndrome 1 |
|
High palate, Cleft palate, Facial hypertrichosis, Long eyelashes, Hypoplasia of the maxilla, Leuk... |
OMIM:180849 |
| Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Ulnar radial head dislocation, Hypoplasia of the maxilla, Short mandibular condyles |
OMIM:264270 |
| Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... |
ORPHA:1329 |
| Orofacial Cleft 15 |
|
Protruding ear, Sparse eyebrow, Sparse eyelashes, Agenesis of lateral incisor, Bilateral cleft pa... |
OMIM:616788 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Delayed eruption of teeth, C1-C2 subluxation, Hypoplasia of the maxilla, Delayed clos... |
OMIM:259600 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion |
ORPHA:411703 |
| X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Macrotia |
ORPHA:93950 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal... |
OMIM:618986 |
| Saethre-Chotzen Syndrome |
|
Abnormal antihelix morphology, Cleft palate, Craniosynostosis, Proximal radio-ulnar synostosis, P... |
ORPHA:794 |
| Ataxia-Telangiectasia |
|
Premature graying of hair, Type II diabetes mellitus, Lymphopenia, Hypopigmentation of hair, Trem... |
ORPHA:100 |
| Coffin-Lowry Syndrome |
|
High palate, Wide mouth, Delayed eruption of teeth, Advanced eruption of teeth, Optic atrophy, Hy... |
ORPHA:192 |
| Chediak-Higashi Syndrome |
|
Periodontitis, Ocular albinism, Decreased nerve conduction velocity, Hemophagocytosis, Splenomega... |
OMIM:214500 |
| Alopecia Antibody Deficiency |
|
Conductive hearing impairment, Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, ... |
ORPHA:1006 |
| Waardenburg Syndrome, Type 4B |
|
Sensorineural hearing impairment, Hypopigmented skin patches, Blue irides, White eyebrow, White e... |
OMIM:613265 |
| Microcephaly-Capillary Malformation Syndrome |
|
Low-set ears, Cleft palate, Abnormal hair whorl, Optic atrophy, Short nose, Hypoplasia of the max... |
OMIM:614261 |
| Congenital Toxoplasmosis |
|
Intrauterine growth retardation, Ascites, Hepatomegaly, Cardiomegaly |
ORPHA:858 |
| Attrv30M Amyloidosis |
|
Atrioventricular block, Arrhythmia, Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
| Immunodeficiency 97 With Autoinflammation |
|
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... |
OMIM:619802 |
| Brachymetapody-Anodontia-Hypotrichosis-Albinoidism |
|
Anodontia, Sparse hair, Sparse eyelashes, Absent pubic hair, Hypoplastic nipples, Distichiasis, H... |
OMIM:211370 |
| Laron Syndrome |
|
Tooth agenesis, Micrognathia, Osteoarthritis, Delayed eruption of teeth, Microdontia, Hypoglycemi... |
ORPHA:633 |
| Carpenter Syndrome 1 |
|
High palate, Abnormal pinna morphology, Short neck, Optic atrophy, Genu valgum, Sagittal craniosy... |
OMIM:201000 |
| Gaucher Disease Type 3 |
|
Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcification, Hydrops fetal... |
ORPHA:77261 |
| Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Abnormal pinna morphology, Microretrognathia, Thick eyebrow, Highly arched eyebrow, Long philtrum... |
ORPHA:228396 |
| Brittle Cornea Syndrome 1 |
|
Dentinogenesis imperfecta, Spondylolisthesis, Congenital hip dislocation, Scoliosis, Joint laxity... |
OMIM:229200 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... |
ORPHA:320401 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Hypertrichosis, Butterfly vertebrae, Retrognathia, Spina bifida occulta, Fused cervical vertebrae... |
OMIM:619227 |
| Treacher-Collins Syndrome |
|
High palate, Wide mouth, Cleft palate, Abnormality of the dentition, Hypoplasia of the maxilla, C... |
ORPHA:861 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment |
OMIM:125250 |
| Histidinuria-Renal Tubular Defect Syndrome |
|
Sensorineural hearing impairment, Hypoplastic toenails, Long philtrum, Hypoglycemia, Macrotia, De... |
ORPHA:2158 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Sensorineural hearing impairment, Abnormal eyebrow morphology, Irregular hyperpigmentation, Hypop... |
ORPHA:2885 |
| Amelogenesis Imperfecta, Type Ih |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Yellow-brown discoloration of the teeth, Dent... |
OMIM:616221 |
| Acute Interstitial Pneumonia |
|
Hypertension, Peripheral edema, Pericardial effusion, Pleural effusion |
ORPHA:79126 |
| Myhre Syndrome |
|
Sparse hair, Cleft palate, Short philtrum, Short neck, Platyspondyly, Hypoplasia of the maxilla, ... |
OMIM:139210 |
| Juvenile Idiopathic Arthritis |
|
Joint swelling, Hepatomegaly, Pericardial effusion, Splenomegaly |
ORPHA:92 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent nipple, Periorbital hyperpigmentation, Sparse hair, Sparse eyebrow, Microdontia, Short nos... |
OMIM:305100 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Sensorineural hearing impairment, Abnormality of the tongue, Hypodontia, Sparse hair, Alopecia, A... |
ORPHA:659 |
| Pediatric Systemic Lupus Erythematosus |
|
Raynaud phenomenon, Myositis, Edema, Pleural effusion, Ascites, Pericardial effusion |
ORPHA:93552 |
| Mogs-Cdg |
|
High palate, Absent brainstem auditory responses, Sensorineural hearing impairment, Hirsutism, Fa... |
ORPHA:79330 |
| Non-Specific Syndromic Intellectual Disability |
|
High palate, Conductive hearing impairment, Narrow mouth, Kyphosis, Joint hypermobility, Thin ver... |
ORPHA:528084 |
| Dilution, Pigmentary |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
OMIM:126070 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Facial edema, Splenomegaly, Short stature, Hydrops fetalis, Ascites, Skeletal muscl... |
OMIM:256550 |
| Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
| Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Tooth agenesis, Irregular hyperpigmentation, Abnormal hair quantity, Aplasia/Hypoplasi... |
ORPHA:238468 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Wide mouth, EEG abnormality, EEG with focal epileptiform discharges, Hypopigmentation of the skin... |
ORPHA:98795 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Ascites, Cardiomegaly, Congestive heart failure |
OMIM:269920 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Stapes ankylosis, Congenital stapes ankylosis, Conductive hearing impairment, Long nose, Fused ce... |
OMIM:184460 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Sensorineural hearing impairment, Congenital sensorineural hearing impairment, Low anterior hairl... |
ORPHA:73272 |
| Van Maldergem Syndrome 2 |
|
High palate, Dental malocclusion, Sensorineural hearing impairment, Conductive hearing impairment... |
OMIM:615546 |
| Aarskog-Scott Syndrome |
|
Cleft upper lip, Large earlobe, Hypodontia, Cleft palate, Hyperextensibility of the finger joints... |
OMIM:305400 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Patent ... |
ORPHA:1457 |
| Q Fever |
|
Abnormal left ventricular function, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Endocarditis,... |
ORPHA:781 |
| Alkuraya-Kucinskas Syndrome |
|
Edema, Pericardial effusion, Arthrogryposis multiplex congenita, Camptodactyly |
OMIM:617822 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Mandibular prognathia, Crowded maxillary incisors, Hypoplasia of the maxilla |
ORPHA:397973 |
| Simpson-Golabi-Behmel Syndrome |
|
Wide mouth, Abnormal helix morphology, Accelerated skeletal maturation, Cleft palate, Short neck,... |
ORPHA:373 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
High palate, Sensorineural hearing impairment, Cervical C2/C3 vertebral fusion, Low anterior hair... |
OMIM:617796 |
| Trisomy 10P |
|
High palate, EEG with focal spikes, Flexion contracture of thumb, Retrognathia, Micrognathia, Thi... |
ORPHA:171929 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, Myopathy, Reduced muscle c... |
OMIM:212140 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Nail pits, Premature loss of teeth, Premature graying of hair, Lymphopenia, Sparse hair, Reticula... |
OMIM:127550 |
| Van Maldergem Syndrome 1 |
|
High palate, Dental malocclusion, Sensorineural hearing impairment, Conductive hearing impairment... |
OMIM:601390 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Sensorineural hearing impairment, Cleft palate, Micrognathia, Aplasia/Hypoplasia of the patella, ... |
ORPHA:3320 |
| Crisponi/Cold-Induced Sweating Syndrome 1 |
|
High palate, Low-set ears, Narrow mouth, Kyphoscoliosis, Opisthotonus, Retrognathia, Micrognathia... |
OMIM:272430 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Wide mouth, EEG abnormality, Limitation of movement at ankles, Hypopigmentation of the skin, Hypo... |
ORPHA:98794 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hirsutism, Low anterior hairline, Malar flattening, Wide nasal bridge, Hypoglycemia, Tremor, High... |
OMIM:220111 |
| Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Cervical vertebral bodies with decreased anteroposterior diameter, Fusion of midcervical facet jo... |
OMIM:606842 |
| Keipert Syndrome |
|
Sensorineural hearing impairment, Hypoplasia of the maxilla, Tented upper lip vermilion, Exaggera... |
ORPHA:2662 |
| Blepharo-Cheilo-Odontic Syndrome |
|
Conductive hearing impairment, Abnormal hair quantity, Carious teeth, Bilateral cleft lip and pal... |
ORPHA:1997 |
| Mandibuloacral Dysplasia |
|
High palate, Dental crowding, Glucose intolerance, Hyperinsulinemia, Sparse hair, Alopecia, Insul... |
ORPHA:2457 |
| Chops Syndrome |
|
Cervical C2/C3 vertebral fusion, Thick hair, Thick eyebrow, High, narrow palate, Splenomegaly, Tr... |
OMIM:616368 |
| Amelogenesis Imperfecta, Type Iv |
|
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Taurodontia, Amelogenesis imperfecta |
OMIM:104510 |
| Cockayne Syndrome A |
|
Abnormal pinna morphology, Sparse hair, Retinal pigment epithelial mottling, Dry hair, Carious te... |
OMIM:216400 |
| Caudal Regression Syndrome |
|
Joint stiffness, Hypoplastic vertebral bodies, Abnormal vertebral segmentation and fusion, Scolio... |
ORPHA:3027 |
| Hermansky-Pudlak Syndrome 2 |
|
Generalized hypopigmentation, Carious teeth, Fair hair, Splenomegaly, Long philtrum, Decreased CD... |
OMIM:608233 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Sparse eyebrow, Cupped ear, Hypoplasia of the maxilla, Widow's peak, Low-set ears, Wide nasal bridge |
OMIM:167730 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
High palate, Hirsutism, Kyphoscoliosis, Flexion contracture, Retrognathia, Osteopenia, Hypoglycem... |
OMIM:618005 |
| Kaposiform Lymphangiomatosis |
|
Splenomegaly, Hepatosplenomegaly, Epidural hemorrhage, Enlarged kidney, Pleural effusion, Subconj... |
ORPHA:464329 |
| Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Congestive heart failure, Atrial septal defect, Pulmonary ede... |
ORPHA:980 |
| Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pericardial effusion, Pleural effusion, Splenomegaly |
OMIM:613011 |
| Squalene Synthase Deficiency |
|
Abnormality of hair pigmentation, Retrognathia, Micrognathia, Optic nerve hypoplasia, Low-set, po... |
OMIM:618156 |
| Craniometadiaphyseal Dysplasia |
|
High palate, Low-set ears, Sclerosis of skull base, Malar flattening, Osteopenia, Scoliosis, Micr... |
OMIM:269300 |
| Mucopolysaccharidosis, Type Iva |
|
Wide mouth, Anterior beaking of lumbar vertebrae, Short neck, Platyspondyly, Carious teeth, Genu ... |
OMIM:253000 |
| Primary Intestinal Lymphangiectasia |
|
Edema, Pleural effusion, Generalized edema, Growth delay, Ascites, Pericardial effusion |
ORPHA:90362 |
| Mohr Syndrome |
|
High palate, Conductive hearing impairment, Accessory oral frenulum, Agenesis of central incisor,... |
OMIM:252100 |
| Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
High palate, Protruding ear, Joint hypermobility, Flexion contracture, Thin vermilion border, Ove... |
ORPHA:481152 |
| Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils, Radioulnar synostosis, Carious teeth |
ORPHA:2760 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
High palate, Abnormally folded helix, Flexion contracture, Hyperextensibility of the finger joint... |
OMIM:309520 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Cervical C2/C3 vertebral fusion, Hypoplastic toenails, Hypoplastic thumbnail, Moderate hearing im... |
ORPHA:370010 |
| Lelis Syndrome |
|
Yellow nails, Sparse hair, Hypodontia, Carious teeth, Furrowed tongue, Vitiligo, Perioral hyperpi... |
ORPHA:140936 |
| Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Abnormal number of dense granules, Gingiv... |
OMIM:614072 |
| Cockayne Syndrome B |
|
Abnormal pinna morphology, Sparse hair, Dry hair, Carious teeth, Optic atrophy, Tremor, Mandibula... |
OMIM:133540 |
| Poems Syndrome |
|
Pulmonary arterial hypertension, Visceromegaly, Pleural effusion, Edema, Ascites, Pericardial eff... |
ORPHA:2905 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Hypodontia, Everted lower lip vermilion, Short philtrum, Microdontia, Hypoplasia of the maxilla, ... |
OMIM:601499 |
| Elsahy-Waters Syndrome |
|
High palate, Impacted tooth, Delayed eruption of teeth, Hypoplasia of the maxilla, Mandibular pro... |
OMIM:211380 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Congestive heart failure |
OMIM:300886 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Flexion contracture, Nonimmune hydrops fetalis, Cardiomyopathy, Edema, Pericarditis... |
OMIM:212065 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Gingival overgrowth, Gingival hyperkeratosis, Hirsutism, Hypodontia, Recurrent mandibular subluxa... |
OMIM:225410 |
| Basal Cell Nevus Syndrome |
|
Cleft upper lip, Kyphoscoliosis, Irregular ossification of hand bones, Cleft palate, Hemivertebra... |
OMIM:109400 |
| Amelogenesis Imperfecta, Type Iiic |
|
Amelogenesis imperfecta, Hypocalcification of dental enamel, Yellow-brown discoloration of the te... |
OMIM:618386 |
| Frontometaphyseal Dysplasia |
|
Cleft palate, Craniosynostosis, Limitation of movement at ankles, Limitation of knee mobility, Mi... |
ORPHA:1826 |
| Doors Syndrome |
|
High palate, Macrodontia of permanent maxillary central incisor, Cleft palate, Abnormality of the... |
ORPHA:79500 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
High palate, Delayed skeletal maturation, Prominent frontal sinuses, Persistence of primary teeth... |
OMIM:170390 |
| Uncombable Hair Syndrome |
|
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair |
ORPHA:1410 |
| Cantú Syndrome |
|
Patent ductus arteriosus, Umbilical hernia, Abnormal heart valve morphology, Hypertrophic cardiom... |
ORPHA:1517 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Conductive hearing impairment, Generalized hirsutism, Low anterior hairline, Coronal craniosynost... |
ORPHA:2095 |
| Mucopolysaccharidosis Type 4 |
|
Spinal canal stenosis, Wide mouth, Kyphosis, Joint dislocation, Reduced bone mineral density, Abn... |
ORPHA:582 |
| Axenfeld-Rieger Syndrome |
|
Hypodontia, Everted lower lip vermilion, Microdontia, Hypoplasia of the maxilla, Hearing impairme... |
ORPHA:782 |
| Poikiloderma With Neutropenia |
|
Joint stiffness, Reticular hyperpigmentation, Sparse eyebrow, Splenomegaly, Retrognathia, Microgn... |
OMIM:604173 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Hyperinsulinemia, Hypopigmentation of the skin, Hypoglycemic seizures, Delayed skeletal maturatio... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hyperinsulinemia, Hypopigmentation of the skin, Hypoglycemic seizures, Delayed skeletal maturatio... |
ORPHA:71526 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Spinal canal stenosis, Dental malocclusion, Dislocated radial head, Hypoplastic vertebral bodies,... |
OMIM:101800 |
| Mucopolysaccharidosis, Type Ivb |
|
Wide mouth, Kyphosis, Platyspondyly, Scoliosis, Osteoporosis, Grayish enamel, Carious teeth, Hype... |
OMIM:253010 |
| Jalili Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Abnormality of dental color, Amelogenesis imp... |
ORPHA:1873 |
| Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Hematemesis, Splenomegaly, Limb hypertonia, Oligohydramnios, Vasculitis, Hematochez... |
OMIM:615846 |
| Tropical Endomyocardial Fibrosis |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Pedal ... |
ORPHA:75565 |
| Aicardi Syndrome |
|
Cleft upper lip, Protruding ear, EEG abnormality, Abnormality of retinal pigmentation, Butterfly ... |
ORPHA:50 |
| Amelocerebrohypohidrotic Syndrome |
|
EEG abnormality, Abnormality of dental color, Yellow-brown discoloration of the teeth, Amelogenes... |
ORPHA:1946 |
| Aymé-Gripp Syndrome |
|
Congenital diaphragmatic hernia, Short stature, Camptodactyly, Patent ductus arteriosus, Postnata... |
ORPHA:1272 |
| Waardenburg Syndrome |
|
Conductive hearing impairment, Abnormal eyebrow morphology, Premature graying of hair, Hypopigmen... |
ORPHA:3440 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Congenital hip dislocation, Genu valgum, Short nose, Hypsarrhythmia, Mandibular progn... |
OMIM:616007 |
| Meier-Gorlin Syndrome 4 |
|
Narrow mouth, Genu recurvatum, Microtia, Micrognathia, Hypoplasia of the maxilla, Breast hypoplas... |
OMIM:613804 |
| Amelogenesis Imperfecta, Type If |
|
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color |
OMIM:616270 |
| Crimean-Congo Hemorrhagic Fever |
|
Melena, Hepatomegaly, Hemoperitoneum, Subdural hemorrhage, Hemothorax, Myocarditis, Bundle branch... |
ORPHA:99827 |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
