Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Superior Transverse Scapular Ligament, Calcification Of, Familial |
|
Ectopic ossification in ligament tissue |
OMIM:601708 |
Plasma Fibronectin Deficiency |
|
Reduced circulating fibronectin level |
OMIM:614101 |
Ribbing Disease |
|
Diaphyseal sclerosis |
OMIM:601477 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Proximal Myopathy With Focal Depletion Of Mitochondria |
|
Elevated circulating creatine kinase concentration |
OMIM:600706 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Distal Osteosclerosis |
|
Diaphyseal sclerosis, Craniofacial osteosclerosis, Hyperostosis |
OMIM:126250 |
Buschke-Ollendorff Syndrome |
|
Joint stiffness, Flexion contracture, Osteopoikilosis |
OMIM:166700 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Y |
|
Elevated circulating creatine kinase concentration |
OMIM:616687 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration, Elevated creatine kinase after exercise |
ORPHA:206599 |
Melorheostosis With Osteopoikilosis |
|
Abnormal cortical bone morphology, Osteopoikilosis |
ORPHA:1879 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Mucopolysaccharidosis Type 4 |
|
Coxa valga, Short neck, Abnormal rib morphology, Abnormal metaphysis morphology, Reduced bone min... |
ORPHA:582 |
Familial Alzheimer-Like Prion Disease |
|
Cognitive impairment, Deficit in phonologic short-term memory, Emotional lability, Depression, An... |
ORPHA:280397 |
Mucopolysaccharidosis, Type Iva |
|
Pointed proximal second through fifth metacarpals, Chondroitin sulfate excretion in urine, Coxa v... |
OMIM:253000 |
Myopathy, Vacuolar, With Casq1 Aggregates |
|
Elevated circulating creatine kinase concentration |
OMIM:616231 |
Kniest Dysplasia |
|
Dumbbell-shaped long bone, Keratan sulfate excretion in urine, Short neck, Delayed patellar ossif... |
ORPHA:485 |
Mucolipidosis Ii Alpha/Beta |
|
Hip subluxation, Cerebral cortical atrophy, Coxa valga, Atlantoaxial dislocation, Flared iliac wi... |
OMIM:252500 |
Mucopolysaccharidosis, Type Vii |
|
Metatarsus adductus, Hirsutism, Short neck, Hepatomegaly, Coarse hair, Narrow greater sciatic not... |
OMIM:253220 |
Cartilage-Hair Hypoplasia |
|
Brachycephaly, Convex nasal ridge, Wide nasal bridge, Heart block, Abnormal distal phalanx morpho... |
ORPHA:175 |
Severe Primary Trimethylaminuria |
|
Aggressive behavior, Anxiety, Trimethylaminuria, Emotional lability, Low self esteem, Depression,... |
ORPHA:468726 |
Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
Hurler Syndrome |
|
Coxa valga, Wide nasal bridge, Flared iliac wing, Hepatosplenomegaly, Hypoplasia of the femoral h... |
OMIM:607014 |
Van Buchem Disease |
|
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis |
OMIM:239100 |
Mucopolysaccharidosis, Type Ivb |
|
Pointed proximal second through fifth metacarpals, Chondroitin sulfate excretion in urine, Coxa v... |
OMIM:253010 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Mucopolysaccharidosis, Type Iiid |
|
Ovoid thoracolumbar vertebrae, Thickened ribs, Synophrys, Elbow flexion contracture, Hypoplastic ... |
OMIM:252940 |
Hyperostosis Corticalis Generalisata |
|
Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis |
ORPHA:3416 |
Loeffler Endocarditis |
|
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Myocardial fibrosis, Pericard... |
ORPHA:75566 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Increased bone mineral density, Hypophosphatemic rickets, Craniosynostosis |
OMIM:241520 |
Hurler Syndrome |
|
Camptodactyly of finger, Wide nasal bridge, Narrow pelvis bone, Angina pectoris, Short neck, Hepa... |
ORPHA:93473 |
Chondrodysplasia Calcificans Metaphysealis |
|
Metaphyseal dysplasia, Mucopolysacchariduria, Metaphyseal chondrodysplasia |
OMIM:215050 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Retrognathia, Ventricular hypertrophy, Kyphosis, Joint contracture of the hand, Camptodactyly of ... |
OMIM:300280 |
Huntington Disease-Like 2 |
|
Inertia, Weight loss, Apathy, Dementia, Dystonia, Action tremor, Depression, Anxiety, Subcortical... |
OMIM:606438 |
Cardiomyopathy, Dilated, 2G |
|
Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray... |
OMIM:619897 |
Mucopolysaccharidosis Type 1 |
|
Enlarged thorax, Hypertrophic cardiomyopathy, Abnormal metaphysis morphology, Thick nasal alae, A... |
ORPHA:579 |
Osteopenia And Sparse Hair |
|
Osteopenia, Joint laxity |
OMIM:259690 |
Mucopolysaccharidosis, Type Vi |
|
Hypoplastic acetabulae, Sinus tachycardia, Flared iliac wing, Anterior wedging of L2, Hirsutism, ... |
OMIM:253200 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short femoral neck, Wide distal femoral metaphysis, Rhizomelia, Hip dysplasia, Limitation of join... |
OMIM:619598 |
Left Ventricular Noncompaction 1 |
|
Sudden cardiac death, Patent ductus arteriosus, Ventricular septal defect, Ventricular arrhythmia... |
OMIM:604169 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormality of the elbow, Finger syndactyly, Short stature, Synophrys, Radioulnar synostosis, Cli... |
ORPHA:3268 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Macrotia, Mandibular prognathia, Inability to walk, Contractures of the large joint... |
ORPHA:324410 |
Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Systolic heart murmur, Left ventricular outflow tract obstruction,... |
ORPHA:3092 |
Acrocapitofemoral Dysplasia |
|
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... |
OMIM:607778 |
Oculoskeletodental Syndrome |
|
Abnormal sternum morphology, Thoracic hypoplasia, Short femoral neck, Wide nasal bridge, Short st... |
OMIM:618440 |
Congenital Heart Defects, Multiple Types, 2 |
|
Subvalvular aortic stenosis, Left ventricular outflow tract obstruction, Ventricular septal defec... |
OMIM:614980 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Absent o... |
OMIM:601376 |
Acromesomelic Dysplasia 2A |
|
Short tibia, Short phalanx of finger, Flexion contracture, Aplasia/Hypoplasia involving the metac... |
OMIM:200700 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Urinary urgency, Dementia, Depression, Anxiety, Dystonia, Bradykinesia |
OMIM:605909 |
Mucopolysaccharidosis, Type X |
|
Hyperlordosis, Genu valgum, Wide nasal bridge, Broad clavicles, Hip dysplasia, Dermatan sulfate e... |
OMIM:619698 |
Mucopolysaccharidosis Type 6 |
|
Genu valgum, Kyphosis, Thick nasal alae, Epiphyseal dysplasia, Short neck, Ovoid vertebral bodies... |
ORPHA:583 |
Mucopolysaccharidosis, Type Iiic |
|
Ovoid thoracolumbar vertebrae, Thickened ribs, Synophrys, Dolichocephaly, Asymmetric septal hyper... |
OMIM:252930 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Cortical thickening of long bone diaphyses, Recurrent fractures |
OMIM:166740 |
Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized o... |
ORPHA:2790 |
Weill-Marchesani Syndrome 1 |
|
Brachycephaly, Thin bony cortex, Broad phalanges of the hand, Short stature, Broad palm, Spinal c... |
OMIM:277600 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
19P13.12 Microdeletion Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Ventricular septal defect, Kypho... |
ORPHA:254346 |
Hurler-Scheie Syndrome |
|
Pulmonary arterial hypertension, Camptodactyly of finger, Kyphosis, Short stature, Dermatan sulfa... |
OMIM:607015 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Muscle fiber atrophy, Optic atrophy, Truncal ataxia, Steppage gait, Bradykinesia, Facial palsy, G... |
OMIM:258450 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Mitral valv... |
OMIM:616648 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Epiphyseal stippling, Short humerus, Rhizomelia, Short femur |
OMIM:600121 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, C... |
OMIM:615373 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Inappropriate behavior, Cognitive impairment, Ataxia, Tremor, Dystonia, Depression, Anxiety, Memo... |
ORPHA:401901 |
Myopathy, Myofibrillar, 6 |
|
Knee flexion contracture, Myofibrillar myopathy, Restrictive cardiomyopathy, Tip-toe gait, Genera... |
OMIM:612954 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Genu valgum, Wide nasal bridge, Short stature, Clinodactyly, Macrocephaly, Abnormal vertebral mor... |
ORPHA:166024 |
Mucopolysaccharidosis, Type Ii |
|
Splenomegaly, Scaphocephaly, Kyphosis, Short stature, Dermatan sulfate excretion in urine, Macroc... |
OMIM:309900 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
Melorheostosis |
|
Arthritis, Increased bone mineral density, Joint stiffness, Hyperostosis, Ectopic ossification in... |
ORPHA:2485 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Patellar hypoplasia, Patellar aplasia, Coxa vara, Patellar dislocation, Micrognathia, Flat capita... |
OMIM:147891 |
Weill-Marchesani Syndrome 2 |
|
Brachycephaly, Thin bony cortex, Elbow flexion contracture, Proportionate short stature, Flexion ... |
OMIM:608328 |
Fibular Hemimelia |
|
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Renal dyspl... |
ORPHA:93323 |
Mucopolysaccharidosis, Type Iiia |
|
Ovoid thoracolumbar vertebrae, Thickened ribs, Synophrys, Asymmetric septal hypertrophy, Dense ca... |
OMIM:252900 |
Osteochondrosis Of The Metatarsal Bone |
|
Pedal edema, Abnormality of the fifth metatarsal bone, Flattened metatarsal heads, Arthritis, Scl... |
ORPHA:564003 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
Metatropic Dysplasia |
|
Flared iliac wing, Long coccyx, Enlarged joints, Narrow greater sciatic notch, Disproportionate s... |
OMIM:156530 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Thin bony cortex, Broad tibial metaphyses, Increased bone mineral density, Broad femoral head, Fi... |
ORPHA:85188 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Decreased level of coenzyme Q10 in skeletal muscle, Hypothermia, Left ventricular hypertrophy, Ce... |
OMIM:614654 |
Desbuquois Dysplasia 1 |
|
Broad first metatarsal, Advanced ossification of carpal bones, Coxa valga, Proximal fibular overg... |
OMIM:251450 |
Chorea, Benign Hereditary |
|
Gait disturbance, Dementia, Anxiety |
OMIM:118700 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Patent ductus arteriosus, Reduced left ventricular ejection fraction, Hypothermia, Left ventricul... |
OMIM:616501 |
Isolated Osteopoikilosis |
|
Tarsal sclerosis, Abnormal bone ossification, Increased bone mineral density, Sclerosis of foot b... |
ORPHA:166119 |
Cardiac Valvular Dysplasia, X-Linked |
|
Bicuspid aortic valve, Short chordae tendineae of the mitral valve, Mitral valve prolapse, Short ... |
OMIM:314400 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Hyperlordosis, Kyphosis, Vertebral wedging, Dolichocephaly, Frontal bossing, Disproportionate sho... |
ORPHA:40 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Patent ductus arteriosus, Persistent fetal circulation, High palate, Long philtrum, High, narrow ... |
OMIM:612863 |
Peripartum Cardiomyopathy |
|
Sinus tachycardia, Cardiogenic shock, Palpitations, Elevated jugular venous pressure, Abnormal at... |
ORPHA:563 |
Mucopolysaccharidosis, Type Iiib |
|
Ovoid thoracolumbar vertebrae, Thickened ribs, Synophrys, Asymmetric septal hypertrophy, Dense ca... |
OMIM:252920 |
Anauxetic Dysplasia 2 |
|
Coxa valga, Midface retrusion, Hypoplastic iliac body, Hypoplasia of the femoral head, Nail dyspl... |
OMIM:617396 |
Sclerosteosis |
|
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology |
ORPHA:3152 |
Multiple Sulfatase Deficiency |
|
Short stature, Ataxia, Hypoplastic vertebral bodies, Broad hallux, Broad thumb, Mucopolysaccharid... |
OMIM:272200 |
Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Osteopetrosis, Generalized osteosclerosis, Calvarial osteosclerosis |
OMIM:607634 |
Flynn-Aird Syndrome |
|
Increased bone density with cystic changes, Increased bone mineral density, Joint stiffness, Oste... |
OMIM:136300 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Omphalocele, Preaxial hand polydactyly, Finger syndactyly, Patel... |
ORPHA:3329 |
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615269 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Cognitive impairment, Optic atrophy, Abnormal EKG, Progressive gait ataxia, Generalized amyotroph... |
ORPHA:1177 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Short stature, Hip dysplasia, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Abn... |
ORPHA:2370 |
Gm1 Gangliosidosis Type 1 |
|
Flattened femoral head, Flared iliac wing, Hypoplastic vertebral bodies, Hepatosplenomegaly, Hirs... |
ORPHA:79255 |
Mucopolysaccharidosis Type 3 |
|
Synophrys, Adenoiditis, Hirsutism, Hepatomegaly, Coarse hair, Abnormal rib morphology, Thick nasa... |
ORPHA:581 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Thoracolumbar scoliosis, Aortic root aneurysm, Pulmonary insufficiency, High palate, Mitral valve... |
ORPHA:230851 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Bicuspid aortic valve, Pulmonic stenosis, Ventricular escape rhythm, Left atrial enlargement, Mit... |
OMIM:616201 |
Sick Sinus Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... |
OMIM:163800 |
Atrial Septal Defect 2 |
|
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Atrial septal... |
OMIM:607941 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Cognitive impairment, Apathy, Dementia, Depression, Anxiety, Athetosis |
OMIM:615483 |
Multiple Sulfatase Deficiency |
|
Short stature, Coarse hair, Macrocephaly, Depressed nasal bridge, Broad thumb, Mucopolysaccharidu... |
ORPHA:585 |
17Q21.31 Microduplication Syndrome |
|
Toe syndactyly, Synophrys, Clinodactyly of the 5th finger, Short nose, Delayed puberty, Sandal ga... |
ORPHA:217340 |
Creutzfeldt-Jakob Disease |
|
Gait ataxia, Apathy, Dementia, Depression, Anxiety, Irritability, Memory impairment |
OMIM:123400 |
Codas Syndrome |
|
Short phalanx of finger, Genu valgum, Lumbar scoliosis, Short metacarpal, Absent epiphyses, Short... |
OMIM:600373 |
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atrophy, Wide nasal bridge, Short stature... |
ORPHA:3207 |
Atrial Standstill |
|
Flexion contracture, Ischemic stroke, Left ventricular noncompaction, Palpitations, Abnormal P wa... |
ORPHA:1344 |
Familial Dilated Cardiomyopathy |
|
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... |
ORPHA:217607 |
Acrocephalopolydactyly |
|
Oxycephaly, Thoracic hypoplasia, Depressed nasal ridge, Short long bone, Hepatosplenomegaly, Shor... |
ORPHA:221054 |
Nathalie Syndrome |
|
Skeletal muscle atrophy, Hearing impairment, Abnormal EKG |
OMIM:255990 |
Desbuquois Syndrome |
|
Camptodactyly of finger, Coxa valga, Patellar dislocation, Elbow dislocation, Short neck, Abnorma... |
ORPHA:1425 |
Familial Aortic Dissection |
|
Aortic root aneurysm, Patent ductus arteriosus, Coronary artery atherosclerosis, Descending aorti... |
ORPHA:229 |
Scheie Syndrome |
|
Mandibular prognathia, Aortic regurgitation, Spondylolisthesis, Short neck, Aortic valve stenosis |
OMIM:607016 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Sudden cardiac death, Limb-girdle muscle weakness, Elbow flexion contracture, Decreased cervical ... |
OMIM:181350 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Thoracolumbar scoliosis, Knee flexion contracture, Hip contracture, Tapered finger, Kyphosis, Hyp... |
OMIM:313420 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Sclerotic humeral metaphysis, Coxa valga, Osteoporotic tarsals, Irregular capital femoral epiphys... |
OMIM:609052 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Tricuspid regurgitatio... |
OMIM:618052 |
Cardiomyopathy, Dilated, 1Kk |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Ventricular septal hypertrophy, Congestive ... |
OMIM:615248 |
Monosomy 18Q |
|
Bilateral conductive hearing impairment, Secundum atrial septal defect, Choreoathetosis, Left aor... |
ORPHA:1600 |
Mueller-Weiss Syndrome |
|
Pedal edema, Fragmented, irregular epiphyses, Tibial torsion, Limitation of movement at ankles, S... |
ORPHA:566943 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Patent foramen ovale, High palate, Long philtrum, Mitral valve prolapse, Camptodactyly, Mitral re... |
OMIM:615539 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Butterfly vertebrae, Hip dislocation, Pseudoepiphyses of hand bones, Short neck, Disproportionate... |
OMIM:613330 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Patent ductus arteriosus, Carotid artery stenosis, Ascending tubular aorta aneurysm, Posterior ce... |
OMIM:132900 |
Contractural Arachnodactyly, Congenital |
|
Wrist flexion contracture, Micrognathia, Elbow flexion contracture, Camptodactyly, Congenital kyp... |
OMIM:121050 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Small hand, Kyphosis, Short stature, Hip dislocation, Depressed nasal bridge, Hirsutism, Hypertel... |
OMIM:300434 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
2-3 toe syndactyly, Short 5th finger, Rocker bottom foot, Choanal atresia, Overhanging nasal tip,... |
ORPHA:163979 |
Spinocerebellar Ataxia 12 |
|
Dysdiadochokinesis, Dementia, Dysmetria, Head tremor, Axial dystonia, Action tremor, Depression, ... |
OMIM:604326 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Muscular dystrophy, Calf muscle pseudohypertrophy, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
Noonan Syndrome 8 |
|
Patent ductus arteriosus, Ventricular septal defect, Left ventricular hypertrophy, Eczema, Atrial... |
OMIM:615355 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Intervertebral space narrowing, Short femoral neck, Kyphosis, Squared-off platyspondyl... |
OMIM:271530 |
Attrv122I Amyloidosis |
|
Anemia, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Abn... |
ORPHA:85451 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... |
OMIM:602087 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Brachycephaly, Coxa valga, Abnormality of cranial sutures, Increased bone mineral density, Short ... |
ORPHA:163649 |
Partial Atrioventricular Septal Defect |
|
Angina pectoris, Palpitations, Atrial arrhythmia, Double outlet right ventricle, Partial atrioven... |
ORPHA:1330 |
Grange Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Hypertension, Arterial stenosis, Aortic regu... |
ORPHA:79094 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Metacarpal diaphyseal endosteal sclerosis, Thickened cortex of long bones, Clavicular sclerosis, ... |
OMIM:144750 |
Mucopolysaccharidosis Type 7 |
|
Anterior beaking of lumbar vertebrae, Enlarged thorax, Hepatitis, Epiphyseal stippling, Metatarsu... |
ORPHA:584 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Knee flexion contracture, Preaxial hand polydactyly, Short stature, Widow's peak, Pear-shaped nos... |
OMIM:606242 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Inability to walk, Lumbar kyphosis, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Short neck, ... |
ORPHA:505248 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Global brain atrophy, Partial atrioventricular canal defect, Ventricular septal defect, Inability... |
OMIM:620066 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Dilated cardiomyopath... |
OMIM:601493 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Pericardial effusion, Ventr... |
ORPHA:300751 |
Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Coxa vara, Renal hypoplasia/aplasia, Hip dysplasia, Preaxial foo... |
ORPHA:1988 |
Hypoplastic Femurs And Pelvis |
|
Hypoplastic pelvis, Short femur |
OMIM:619545 |
Marfanoid Habitus With Situs Inversus |
|
Aortic root aneurysm, Mandibular prognathia, Kyphosis, Mitral valve prolapse, Aortic regurgitatio... |
OMIM:609008 |
Cardiospondylocarpofacial Syndrome |
|
Conductive hearing impairment, Mitral valve prolapse, Failure of eruption of permanent teeth, Mit... |
ORPHA:3238 |
Juberg-Hayward Syndrome |
|
Toe syndactyly, Abnormality of the wrist, Abnormal rib morphology, Abnormal eyebrow morphology, A... |
ORPHA:2319 |
Craniofaciofrontodigital Syndrome |
|
Abnormal cerebral vascular morphology, Pericardial effusion, Gingival overgrowth, Persistent feta... |
ORPHA:363705 |
Myopathy, Centronuclear, 5 |
|
Retrognathia, High palate, Centrally nucleated skeletal muscle fibers, Hip contracture, Micrognat... |
OMIM:615959 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Limb-girdle muscle weakness, Calf muscle hypertrophy, Sinus tachycardia, Hypertrophic cardiomyopa... |
OMIM:255160 |
Periventricular Nodular Heterotopia |
|
Patent ductus arteriosus, Aortic aneurysm, Aortic regurgitation, Scoliosis, Abnormal heart valve ... |
ORPHA:98892 |
Diamond-Blackfan Anemia 6 |
|
Retrognathia, Ventricular hypertrophy, Cleft upper lip, Patent ductus arteriosus, Ventricular sep... |
OMIM:612561 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Flared iliac wing, Absent epiphyses of the phalanges of the hand... |
ORPHA:93314 |
Zimmermann-Laband Syndrome 3 |
|
Triphalangeal thumb, Aplasia of the distal phalanx of the 5th toe, Long thumb, Absent distal phal... |
OMIM:618658 |
Arterial Tortuosity Syndrome |
|
Aortic tortuosity, Ventricular hypertrophy, Aortic root aneurysm, Macrotia, High palate, Ischemic... |
OMIM:208050 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Flattened femoral head, Narrow pelvis bone, Fibular metaphyseal irregularity, Distal femoral bowi... |
ORPHA:457395 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Right bundle branch block, Limb-girdle muscular dystrophy, Cognitive impairment, Inability to wal... |
ORPHA:206559 |
Diastrophic Dysplasia |
|
Camptodactyly of finger, Increased bone mineral density, Midface retrusion, Elbow dislocation, Hy... |
ORPHA:628 |
Mucolipidosis Iii Gamma |
|
Hyperlordosis, Kyphosis, Aortic regurgitation, Short neck, Scoliosis, Aortic valve stenosis |
OMIM:252605 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Patent foramen ovale, Restrictive cardiomyopathy, Flexion contracture, Camptodactyly, Mitral regu... |
ORPHA:88630 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Narrow mouth, Mitral regurgitation, Ventricular septal defect, Abnormal cardiac septum morphology |
ORPHA:83473 |
Cednik Syndrome |
|
Depressed nasal ridge, Short stature, Nephrotic syndrome, Dolichocephaly, Congestive heart failur... |
ORPHA:66631 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Ischemic stroke, Mucoid extracellular matrix accumulation, Ascending aortic dissection, Abnormal ... |
ORPHA:91387 |
Dysplastic Cortical Hyperostosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
Polyvalvular Heart Disease Syndrome |
|
High palate, Low-set ears, Micrognathia, Mitral valve prolapse, Abnormal heart valve morphology, ... |
ORPHA:228410 |
Systemic Lupus Erythematosus 17 |
|
Leukopenia, Oral ulcer, Malar rash, Myelitis, Raynaud phenomenon, Lymphopenia, Autoimmune thrombo... |
OMIM:301080 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Bilateral superior vena cava with bridging vein, Wolff-Parkinson-White syndrome, Abnormal left ve... |
ORPHA:216694 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Short tubular bones of the hand, Metaphyseal cupping of proximal phalanges, Lumbar hyperlordosis,... |
ORPHA:174 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Maternal Uniparental Disomy Of Chromosome X |
|
Camptodactyly of finger, Hepatic failure, Short stature, Congestive heart failure, Shield chest, ... |
ORPHA:261519 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Increased intervertebral space, Short long bone, Short ribs, Coarse metaphyseal trabecularization... |
OMIM:618961 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Falls, Anxiety, Apathy, Tremor, Dystonia, Depression, Mental deterioration, Memory impairment, Br... |
ORPHA:240085 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cerebellar vermis atrophy, Optic atrophy, Micrognathia, Camptodactyly, Hepatosplenomegaly, Hepato... |
OMIM:614866 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Generalized bone demineralization, Mucopolysacchariduria, Proteinuria, Nephrotic syndrome |
OMIM:215250 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Hip osteoarthritis, Generalized osteosclerosis, Mandibular osteomyelitis, Os... |
OMIM:166600 |
Cardiac Valvular Dysplasia 2 |
|
Subvalvular aortic stenosis, Systolic heart murmur, Ascending tubular aorta aneurysm, Pulmonary i... |
OMIM:620067 |
Pierpont Syndrome |
|
Brachycephaly, Chiari malformation, Midface retrusion, Short neck, Deep palmar crease, Short palm... |
OMIM:602342 |
Noonan Syndrome 14 |
|
Long philtrum, Kyphosis, Wide mouth, Mitral valve prolapse, Lymphopenia, Aortic regurgitation, Hy... |
OMIM:619745 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Patellar dislocation, Wide nasal bridge, Limited elbow extension, Knee dislocation, Radial head s... |
OMIM:614078 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Cerebral cortical atrophy, Conotruncal defect, Subcortical cerebral atrophy, Abnormal cardiac sep... |
ORPHA:96147 |
Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Rhizomelia, Wide nasal bridge, Narrow chest, Frontal bossing, Platybasia, Cloverleaf skull, Hyper... |
ORPHA:93267 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Double outlet right ventricle, Pulmonary insufficiency, Sensorineural hearing impairment, Heart m... |
ORPHA:2326 |
Epilepsy, Progressive Myoclonic, 12 |
|
Anxiety, Ataxia, Dysmetria, Difficulty walking, Depression, Mental deterioration |
OMIM:619191 |
Spinocerebellar Ataxia 48 |
|
Gait ataxia, Urinary incontinence, Anxiety, Cachexia, Ataxia, Dysmetria, Tremor, Depression, Ment... |
OMIM:618093 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Muscle fiber splitting, Abnormal cardiac septum morphology, Abnormal left ventricular function, D... |
ORPHA:437572 |
Aortic Aneurysm, Familial Thoracic 12 |
|
Aortic root aneurysm, Ascending tubular aorta aneurysm, High palate, Bicuspid aortic valve, Arthr... |
OMIM:619825 |
Coronary Arterial Fistula |
|
Systolic heart murmur, Angina pectoris, Abnormal left ventricular function, Palpitations, Patent ... |
ORPHA:2041 |
16Q24.3 Microdeletion Syndrome |
|
High palate, Ventricular septal defect, Kyphosis, Long philtrum, Wide mouth, Micrognathia, Dilate... |
ORPHA:261250 |
Cranioectodermal Dysplasia |
|
Finger syndactyly, Rhizomelia, Narrow chest, Clinodactyly of the 5th finger, Prominent occiput, D... |
ORPHA:1515 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Patent ductus arteriosus, Pulmonary insufficiency, Narrow palate, Long philtrum, Thick lower lip ... |
ORPHA:555877 |
Craniofrontonasal Dysplasia |
|
Camptodactyly of finger, Brachycephaly, Plagiocephaly, Wide nasal bridge, Pectus excavatum, Abnor... |
ORPHA:1520 |
Mitral Valve Prolapse 1 |
|
High palate, Mitral valve prolapse, Mitral regurgitation, Reversed usual vertebral column curves,... |
OMIM:157700 |
Mucolipidosis Type Ii |
|
Conductive hearing impairment, Inability to walk, Hepatosplenomegaly, Telangiectases of the cheek... |
ORPHA:576 |
Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Osteopetrosis |
OMIM:600329 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... |
OMIM:602086 |
Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
Carnitine Deficiency, Systemic Primary |
|
Endocardial fibroelastosis, Reduced muscle carnitine level, Congestive heart failure, Hypertrophi... |
OMIM:212140 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Wide nose, Tapered finger, Kyphosis, Short stature, Pectus excavatum, Frontal bossing, Hypertelor... |
ORPHA:276630 |
Fabry Disease |
|
Achalasia, Optic atrophy, Angina pectoris, Hypertrophic cardiomyopathy, Hearing impairment, Trans... |
ORPHA:324 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Subvalvular aortic stenosis, Round ear, Ventricular septal defect, Micrognathia, Atrial septal de... |
OMIM:614114 |
Spondyloepimetaphyseal Dysplasia With Hypotrichosis |
|
Genu varum, Pear-shaped vertebrae, Coxa vara, Short femoral neck, Medial widening of clavicles, R... |
OMIM:183849 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Atrioventricular canal defect, Asplenia, Chiari malformation, Micrognathia, Butterfly vertebrae, ... |
OMIM:265380 |
Cardiomyopathy, Dilated, 1S |
|
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:613426 |
Acromicric Dysplasia |
|
Abnormal eyebrow morphology, Fifth metacarpal with ulnar notch, Short metacarpal, Small hand, Lon... |
ORPHA:969 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Inappropriate behavior, Frontotemporal dementia, Inertia, Falls, Shuffling gait, Motor deteriorat... |
ORPHA:412066 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Metatarsus valgus, Toe syndactyly, Short neck, Postaxial hand polydactyly, Abnormal hair morpholo... |
ORPHA:3082 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Camptodactyly of finger, Ventricular hypertrophy, Flexion contracture, Delayed eruption of teeth,... |
OMIM:143095 |
Camurati-Engelmann Disease, Type 2 |
|
Thoracolumbar scoliosis, Knee flexion contracture, Hip contracture, Mitral valve prolapse, Mitral... |
OMIM:606631 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Short 5th finger, Small hand, Clinodactyly, Short nose, Low posterior hairline, Cubitus valgus, S... |
OMIM:300577 |
Craniodiaphyseal Dysplasia |
|
Wide nasal bridge, Short stature, Macrocephaly, Craniofacial hyperostosis, Frontal bossing, Depre... |
ORPHA:1513 |
Filippi Syndrome |
|
Underdeveloped nasal alae, Wide nasal bridge, Frontal hirsutism, Cutaneous syndactyly, Single tra... |
OMIM:272440 |
Noonan Syndrome 13 |
|
High palate, Long philtrum, Wide mouth, Widely spaced teeth, Micrognathia, Mitral valve prolapse,... |
OMIM:619087 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Inability to walk, Short stature, Short nose, Depressed nasal bridge, Progressive microcephaly, H... |
ORPHA:438178 |
Congenital Hypothyroidism |
|
Abnormal pericardium morphology, Hypotension, Optic atrophy, Hypothermia, Hypertension, Macroglos... |
ORPHA:442 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Optic atrophy, Limb hypertonia, EEG with burst suppression, Hypothermia, Micrognathia, Abnormal a... |
OMIM:614498 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Flared iliac wing, Midface retrusion, Short neck, Flattened epiphysis, Thick eyebrow, Peg-like ce... |
OMIM:300232 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Aortic root aneurysm, Ventricular septal defect, Short philtrum, Camptodactyly, Atrial septal def... |
OMIM:301039 |
Pseudoachondroplasia |
|
Short phalanx of finger, Atlantoaxial dislocation, Irregular carpal bones, Limited elbow extensio... |
OMIM:177170 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Abnormal enchondral ossification, Kyphosis, Narrow chest, Halberd-shaped... |
ORPHA:2635 |
Temtamy Syndrome |
|
Long philtrum, Micrognathia, Aortic aneurysm, Lop ear, Dental crowding, Aortic regurgitation, Low... |
OMIM:218340 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Convex nasal ridge, Wide nasal bridge, Prominent nasolabial fold, Hip dislocation, Pectus excavat... |
OMIM:619451 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Hyperlordosis, Abnormal long bone morphology, Urinary bladder sphincter dysfunction, Short statur... |
ORPHA:52430 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... |
OMIM:608758 |
Narcolepsy Type 1 |
|
Obesity, Transient global amnesia |
ORPHA:2073 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Mandibular prognathia, Bicuspid aortic valve, Cervical kyphosis, Dilated cardiomyopathy, Aortic r... |
ORPHA:401923 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Primary microcephaly, Synophrys, Pectus excavatum, Short neck, Slender finger, Proportionate shor... |
ORPHA:391408 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Right bundle branch block, Decreased muscle mass, T-wave inversion, Vent... |
ORPHA:263297 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Bell-shaped thorax, Convex nasal ridge, Pulmonary insufficiency, Thoracic hy... |
OMIM:166210 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Pulmonary arterial hypertension, Optic atrophy, Aortic regurgitation, Mitral regurgitation, Heari... |
OMIM:614651 |
Cardiomyopathy, Dilated, 1U |
|
Severely reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Dilat... |
OMIM:613694 |
Multiple Metaphyseal Dysplasia |
|
Hyperlordosis, Aplasia/Hypoplasia of the thumb, Depressed nasal ridge, Abnormal metaphysis morpho... |
ORPHA:93430 |
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Elevated circulating creatine kinase concentration |
OMIM:160570 |
Dyggve-Melchior-Clausen Disease |
|
Camptodactyly, Short neck, Flat glenoid fossa, Beaking of vertebral bodies, Narrow greater sciati... |
OMIM:223800 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Camptodactyly of finger, Infantile sensorineural hearing impairment, Mitral valve prolapse, Campt... |
ORPHA:2848 |
Ruvalcaba Syndrome |
|
Convex nasal ridge, Synostosis of carpal bones, Short nose, Delayed puberty, Proximal placement o... |
ORPHA:3121 |
Aarskog-Scott Syndrome |
|
Camptodactyly of finger, High anterior hairline, Abnormality of the cervical spine, Short foot, F... |
ORPHA:915 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Patent foramen ovale, Ventricular septal defect, Inflammatory abnormality of the skin, Pericardia... |
ORPHA:26793 |
Turnpenny-Fry Syndrome |
|
Conductive hearing impairment, Microdontia, Hypoplasia of the primary teeth, Lumbar hyperlordosis... |
OMIM:618371 |
Tropical Endomyocardial Fibrosis |
|
Systolic heart murmur, Restrictive cardiomyopathy, Coronary artery stenosis, Left ventricular dia... |
ORPHA:75565 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Broad femoral neck, Metaphyseal irregularity, Genu valgum, Coxa vara, Short metacarpal, Short fem... |
OMIM:607078 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Aortic regurgitation, Micrognathia, Hypsarrhythmia, Cardiomyopathy |
OMIM:600721 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metatarsal, Genu valgum, Upper limb undergrowth, Abnormal carpal morphology, Coxa vara, Sho... |
ORPHA:93351 |
Nicolaides-Baraitser Syndrome |
|
Abnormal hair pattern, Short palm, Sparse hair, Thick nasal alae, Alopecia, Clubbing of toes, Mic... |
ORPHA:3051 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Bifid uvula, Optic nerve hypoplasia, Short neck, Smooth philtrum, Peripheral pulmonary artery ste... |
OMIM:617506 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Mandibular prognathia, High palate, Deep philtrum, Decreased circulating antibody level, Hepatosp... |
OMIM:619750 |
Tatton-Brown-Rahman Syndrome |
|
Aortic root aneurysm, Patent ductus arteriosus, Myeloid leukemia, Mandibular prognathia, Chiari m... |
ORPHA:404443 |
Sinoatrial Node Dysfunction And Deafness |
|
Syncope, Abnormal QRS complex, Increased heart rate variability, Bradycardia, Hearing impairment |
OMIM:614896 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Left ventricular outflow tract obstruction, Abnormal aortic arch morphology, Biventricular hypert... |
ORPHA:860 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Sacral dimple, Incisor macrodontia, Patent ductus arteriosus, Long philtrum, Atrial septal defect... |
OMIM:615502 |
Tatton-Brown-Rahman Syndrome |
|
Ventricular septal defect, Everted upper lip vermilion, Deep philtrum, Atrial septal defect, Opti... |
OMIM:615879 |
Myopathy, Distal, With Anterior Tibial Onset |
|
Elevated circulating creatine kinase concentration |
OMIM:606768 |
Metaphyseal Acroscyphodysplasia |
|
Genu varum, Short toe, Joint dislocation, Coxa valga, Depressed nasal ridge, Wide nasal bridge, C... |
ORPHA:1240 |
Aortic Arch Interruption |
|
Systolic heart murmur, Left ventricular outflow tract obstruction, Aortopulmonary window, Truncus... |
ORPHA:2299 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Aortic regurgitation, Mitral valve prolapse, Mitral regurgitation |
OMIM:225320 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Deeply set eye, Kyphosis, Synophrys, Macrocephaly, Gait disturbance, Short nose, Scoliosis, Low p... |
ORPHA:2429 |
2P15P16.1 Microdeletion Syndrome |
|
Retrognathia, Camptodactyly of finger, High palate, Long philtrum, Kyphosis, Optic atrophy, EEG a... |
ORPHA:261349 |
Hunter-Macdonald Syndrome |
|
Patent ductus arteriosus, Conductive hearing impairment, Sensorineural hearing impairment, Joint ... |
OMIM:611962 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Retrognathia, Right bundle branch block, Tricuspid regurgitation, Mandibular prognathia, Wide mou... |
OMIM:619576 |
Otopalatodigital Syndrome, Type I |
|
Delayed closure of the anterior fontanelle, Coxa valga, Abnormality of the fifth metatarsal bone,... |
OMIM:311300 |
Non-Distal Trisomy 10Q |
|
Brachycephaly, Convex nasal ridge, Short stature, Pectus excavatum, Short nose, Frontal bossing, ... |
ORPHA:1695 |
Behçet Disease |
|
Keratoconjunctivitis sicca, Pericarditis, Myositis, Retrobulbar optic neuritis, Splenomegaly, End... |
ORPHA:117 |
Gnathodiaphyseal Dysplasia |
|
Increased susceptibility to fractures, Osteomyelitis, Osteopenia, Diaphyseal cortical sclerosis |
OMIM:166260 |
Sandhoff Disease |
|
Kyphosis, Macrocephaly, Congestive heart failure, Ataxia, Hepatomegaly, Splenomegaly |
ORPHA:796 |
Lamb-Shaffer Syndrome |
|
Vertebral clefting, Wide nasal bridge, Long hallux, Clinodactyly, Frontal bossing, Overlapping to... |
OMIM:616803 |
Leigh Syndrome With Cardiomyopathy |
|
Global brain atrophy, Anemia, Basal ganglia gliosis, Optic atrophy, Dilated cardiomyopathy, Conge... |
ORPHA:70474 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Atrophy/Degeneration involving the spinal cord, Scapular winging, Gait ataxia, Increased variabil... |
OMIM:607459 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Inability to walk, Kyphosis, Short stature, Hip dislocation, Ataxia, Waddling gait, Scoliosis, Mi... |
OMIM:616756 |
Paget Disease Of Bone 3 |
|
Osteolysis, Patchy osteosclerosis, Fractures of the long bones |
OMIM:167250 |
Alpha-Mannosidosis, Adult Form |
|
Cerebral cortical atrophy, Subcortical cerebral atrophy, Optic disc pallor, Macroglossia, Pancyto... |
ORPHA:309288 |
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies |
|
High anterior hairline, Tapered finger, Wide nasal bridge, Thin eyebrow, Macrocephaly, Clinodacty... |
OMIM:618147 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect |
ORPHA:3449 |
Incessant Infant Ventricular Tachycardia |
|
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac rhabdomyoma, Cardiac arrest, W... |
ORPHA:45453 |
Cardiomyopathy, Dilated, 1V |
|
Reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Dilated cardio... |
OMIM:613697 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Short stature, Camptodactyly, Clinodactyly of the 5th finger, Overlapping toe, Cerebral... |
OMIM:618453 |
Noonan Syndrome 10 |
|
Patent ductus arteriosus, High palate, Ventricular septal defect, Mitral stenosis, Mitral valve p... |
OMIM:616564 |
Otopalatodigital Syndrome Type 1 |
|
Hypoplastic frontal sinuses, Wide nasal bridge, Abnormality of the tarsal bones, Increased bone m... |
ORPHA:90650 |
Coccidioidomycosis |
|
Abnormality of the liver, Abnormal long bone morphology, Cerebral ischemia, Renal insufficiency, ... |
ORPHA:228123 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Patent foramen ovale, Aspiration pneumonia, Left ventricular hypertrophy, Dilated cardiomyopathy,... |
OMIM:619167 |
Cardiomyopathy, Dilated, 1Ii |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Ventricular tachycardia,... |
OMIM:615184 |
Muscular Dystrophy, Cardiac Type |
|
Muscular dystrophy, Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
Huntington Disease-Like 1 |
|
Aggressive behavior, Dementia, Dysmetria, Depression, Anxiety, Unsteady gait |
OMIM:603218 |
Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Inability to walk, Wide nasal bridge, Synophrys, Flared iliac wing, Pectus... |
OMIM:617303 |
Ring Chromosome 8 Syndrome |
|
Frontal bossing, Short nose, Abnormality of the ureter, Anteverted nares, Low posterior hairline,... |
ORPHA:1450 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Flexion contracture, Fractured radius, Wide nasal bridge, Short ribs, Micrognathia, Short femur, ... |
OMIM:616897 |
Ghosal Hematodiaphyseal Dysplasia |
|
Increased bone mineral density, Hyperostosis cranialis interna, Myelofibrosis |
OMIM:231095 |
Developmental And Epileptic Encephalopathy 18 |
|
Aortic regurgitation, Atrial septal defect, EEG abnormality |
OMIM:615476 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... |
OMIM:617047 |
Cln3 Disease |
|
Memory impairment, Shuffling gait, Optic atrophy, T-wave inversion, Left ventricular hypertrophy,... |
ORPHA:228346 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Short stature, Depressed nasal bridge, Hirsutism, Congenital bilateral hip dislocation,... |
ORPHA:85288 |
Atrial Septal Defect, Ostium Primum Type |
|
Systolic heart murmur, Pulmonary artery dilatation, Palpitations, Abnormal P wave, Tricuspid regu... |
ORPHA:99106 |
Congenital Disorder Of Deglycosylation 1 |
|
Brachycephaly, Chondroitin sulfate excretion in urine, Hepatic fibrosis, 3-Methylglutaconic acidu... |
OMIM:615273 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Myofiber disarray, Restrictive cardiomyopathy, Type 1 fibers relatively smaller than type 2 fiber... |
OMIM:619424 |
Fibrochondrogenesis 1 |
|
Dumbbell-shaped long bone, Thoracic hypoplasia, Camptodactyly, Hypoplastic fingernail, Short neck... |
OMIM:228520 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Hip subluxation, Short phalanx of finger, Thoracic hypoplasia, Progressive calcification of costo... |
OMIM:271665 |
Ebstein Malformation Of The Tricuspid Valve |
|
Sudden cardiac death, Imperforate tricuspid valve, Patent ductus arteriosus, Right bundle branch ... |
ORPHA:1880 |
Chromosome 18Q Deletion Syndrome |
|
Conductive hearing impairment, Ascending tubular aorta aneurysm, Optic atrophy, Bifid uvula, Shor... |
OMIM:601808 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Brachycephaly, Plagiocephaly, Wide nasal bridge, Ulnar deviation of the wrist, Clinodactyly, Long... |
OMIM:618577 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Delayed cranial suture closure, Plagiocephaly, Inability to walk, Wide nasal bridge, Overlapping ... |
OMIM:619383 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hypoplasia of the thymus, Perianal abscess, Secundum atrial septal defect, Hepatosplenomegaly, He... |
OMIM:612541 |
Mulibrey Nanism |
|
Wide nose, Nephroblastoma, Wide nasal bridge, Short stature, Dolichocephaly, Congestive heart fai... |
OMIM:253250 |
Paget Disease Of Bone 2, Early-Onset |
|
Increased susceptibility to fractures, Hydroxyprolinuria, Femoral bowing, Short femur, Osteoscler... |
OMIM:602080 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity, Cognitive impairment |
OMIM:619058 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Arterial calcification, Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogeni... |
OMIM:614473 |
Infantile Sialic Acid Storage Disease |
|
Metaphyseal irregularity, Nephrotic syndrome, Fair hair, Abnormal thorax morphology, Congestive h... |
OMIM:269920 |
Congenital Myopathy 8 |
|
Increased variability in muscle fiber diameter, High palate, Muscle fiber atrophy, Internally nuc... |
OMIM:618654 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Dumbbell-shaped long bone, Rhizomelia, Micrognathia, Micromelia, Short femur, Femoral bowing, Bra... |
ORPHA:440354 |
Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Underdeveloped nasal alae, Prominent nose, Wide nasal bridge, Short stature, Prominent nasal brid... |
OMIM:611091 |
Tbck-Related Intellectual Disability Syndrome |
|
Global brain atrophy, Mandibular prognathia, Sensorineural hearing impairment, Ventricular septal... |
ORPHA:488632 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Short tibia, Absent thumb, Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... |
OMIM:612447 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Hypothermia, Hyper... |
OMIM:618775 |
Meningococcal Meningitis |
|
Hypotension, Papilledema, Hypothermia, Skin rash, Stroke, Shock, Fever, Infectious encephalitis, ... |
ORPHA:33475 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Brachycephaly, Pectus carinatum, Turricephaly, Chiari malformation, Toe syndactyly, Renal agenesi... |
ORPHA:171839 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Limb-girdle muscle weakness, Weakness of long finger extensor muscles, Wrist drop, Gait disturban... |
ORPHA:98912 |
Hamamy Syndrome |
|
Dental malocclusion, Enamel hypoplasia, Sensorineural hearing impairment, High palate, Long philt... |
OMIM:611174 |
Rhizomelic Syndrome, Urbach Type |
|
Triphalangeal thumb, Abnormality of the knee, Preaxial hand polydactyly, Abnormality of the elbow... |
ORPHA:3098 |
Opsismodysplasia |
|
Tapered finger, Hypoplastic pubic bone, Severe short stature, Macrocephaly, Hypoplastic vertebral... |
ORPHA:2746 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Cortical sclerosis |
OMIM:122860 |
Schneckenbecken Dysplasia |
|
Dumbbell-shaped long bone, Advanced ossification of carpal bones, Thoracic hypoplasia, Midface re... |
OMIM:269250 |
Pseudoachondroplasia |
|
Short phalanx of finger, Irregular carpal bones, Irregular acetabular roof, Limited elbow extensi... |
ORPHA:750 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hypoplastic iliac wing, 11 pairs of ribs, Metaphyseal cupping, Depressed nasal ridge, Rhizomelia,... |
OMIM:300863 |
Congenital Sialidosis Type 2 |
|
Telangiectasia, Optic atrophy, Abnormal EKG, Ataxia, Hepatosplenomegaly, Dysmetria, Protruding to... |
ORPHA:93400 |
Familial Thyroid Dyshormonogenesis |
|
Sensorineural hearing impairment, Hypothermia, Macroglossia, Lethargy, Bradycardia |
ORPHA:95716 |
Cardiospondylocarpofacial Syndrome |
|
Patent foramen ovale, Fusion of middle ear ossicles, Conductive hearing impairment, Ventricular s... |
OMIM:157800 |
Myopathy, Myofibrillar, 8 |
|
Dental malocclusion, High palate, Centrally nucleated skeletal muscle fibers, Generalized amyotro... |
OMIM:617258 |
Stuve-Wiedemann Syndrome 2 |
|
Pulmonary arterial hypertension, Thoracic hypoplasia, Short long bone, Camptodactyly, Congestive ... |
OMIM:619751 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Camptodactyly of finger, Brachycephaly, Hallux valgus, Toe syndactyly, Synophrys, Midface retrusi... |
ORPHA:1327 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Atrioventricular canal defect, Truncus arteriosus, Micrognathia, Abnormal optic disc morphology, ... |
ORPHA:508498 |
Spontaneous Periodic Hypothermia |
|
Hypothermia, Skin rash, Gait disturbance, Ataxia, Arrhythmia |
ORPHA:29822 |
Cardiac Diverticulum |
|
Angina pectoris, Bicuspid pulmonary valve, Palpitations, Pulmonary artery stenosis, Endocarditis,... |
ORPHA:1686 |
Kniest Dysplasia |
|
Dumbbell-shaped long bone, Hip dislocation, Midface retrusion, Pectus excavatum, Short neck, Abno... |
OMIM:156550 |
Parastremmatic Dwarfism |
|
Genu valgum, Kyphosis, Severe short stature, Short neck, Scoliosis, Bowing of the long bones |
OMIM:168400 |
Complete Atrioventricular Septal Defect |
|
Systolic heart murmur, Displacement of the papillary muscles, Hepatomegaly, Abnormal P wave, Leth... |
ORPHA:1329 |
Loeys-Dietz Syndrome 5 |
|
Cleft soft palate, Bifid uvula, Ascending aortic dissection, Smooth philtrum, Scapular winging, C... |
OMIM:615582 |
Bardet-Biedl Syndrome 5 |
|
Obesity, Cognitive impairment, Micropenis |
OMIM:615983 |
Winchester Syndrome |
|
Kyphosis, Arthropathy, Generalized osteoporosis, Hirsutism, Broad metacarpals, Carpal osteolysis,... |
OMIM:277950 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Knee flexion contracture, Right bundle branch block, High palate, Long philtrum, Mitral valve pro... |
OMIM:617402 |
Mitral Valve Prolapse 3 |
|
Mitral valve prolapse, Mitral regurgitation |
OMIM:610840 |
Mitral Valve Prolapse 2 |
|
Mitral valve prolapse, Mitral regurgitation |
OMIM:607829 |
Spondyloepiphyseal Dysplasia Tarda |
|
Hip osteoarthritis, Flattened femoral head, Increased bone mineral density, Premature osteoarthri... |
ORPHA:93284 |
Potocki-Shaffer Syndrome |
|
Underdeveloped nasal alae, Brachycephaly, Parietal foramina, Sparse lateral eyebrow, Turricephaly... |
OMIM:601224 |
Congenital Heart Defects, Multiple Types, 3 |
|
Right bundle branch block, Atrial septal defect, Atrioventricular block, Abnormal heart morpholog... |
OMIM:614954 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hypoplastic toenails, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Abnormality of the el... |
ORPHA:2701 |
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Thoracic hypoplasia, Ulnar deviation of the hand or of fingers of the hand, Neuronal loss in cent... |
OMIM:602613 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short phalanx of finger, Short metatarsal, Advanced ossification of carpal bones, Short metacarpa... |
OMIM:614613 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Aggressive behavior, Large for gestational age |
ORPHA:356996 |
Hutchinson-Gilford Progeria Syndrome |
|
Ventricular hypertrophy, Conductive hearing impairment, Left ventricular diastolic dysfunction, D... |
ORPHA:740 |
Fibrochondrogenesis 2 |
|
Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Hypoplastic ilia, Thoracic hypop... |
OMIM:614524 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Chiari malformation, Flat capital femoral epiphysis, Metaphyseal striations, Midface retrusion, L... |
OMIM:271510 |
Diastrophic Dysplasia |
|
Genu valgum, Hip contracture, Patellar dislocation, Short long bone, Cervical kyphosis, Short fin... |
OMIM:222600 |
Heyn-Sproul-Jackson Syndrome |
|
Short phalanx of finger, 11 pairs of ribs, Short metacarpal, Broad phalanx, Severe short stature,... |
OMIM:618724 |
Gm1-Gangliosidosis, Type I |
|
Splenomegaly, Thickened ribs, Depressed nasal ridge, Kyphosis, Congestive heart failure, Dilated ... |
OMIM:230500 |
Even-Plus Syndrome |
|
Vertebral clefting, Brachycephaly, Vesicoureteral reflux, Depressed nasal ridge, Recurrent urinar... |
OMIM:616854 |
Cerebellar-Facial-Dental Syndrome |
|
Abnormal T-wave, Dental malocclusion, Foot joint contracture, Ascending tubular aorta aneurysm, V... |
ORPHA:444072 |
Shprintzen-Goldberg Syndrome |
|
Retrognathia, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Cond... |
ORPHA:2462 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Abnormal cardiac septum morphology, Arrhythmia |
ORPHA:1479 |
Verheij Syndrome |
|
Vertebral fusion, Short 5th finger, Wide nasal bridge, Short stature, Clinodactyly, Hip dislocati... |
OMIM:615583 |
Dystonia 12 |
|
Torticollis, Emotional lability, Tremor, Depression, Anxiety, Unsteady gait, Dystonia, Bradykinesia |
OMIM:128235 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Camptodactyly of finger, Hyperlordosis, Sensorineural hearing impairment, Truncus arteriosus, Ven... |
ORPHA:261330 |
Tetrasomy 5P |
|
Pulmonary arterial hypertension, Wide anterior fontanel, Wide nasal bridge, Heart murmur, Cerebel... |
ORPHA:3309 |
Muscular Dystrophy, Duchenne Type |
|
Knee flexion contracture, Hyperlordosis, Flexion contracture, Tip-toe gait, Abnormal EKG, Calf mu... |
OMIM:310200 |
Joubert Syndrome 37 |
|
Wide nose, Hydronephrosis, Deeply set eye, Wide nasal bridge, Short stature, Cerebellar vermis hy... |
OMIM:619185 |
Atrial Septal Defect, Ostium Secundum Type |
|
Systolic heart murmur, Supraventricular arrhythmia, Abnormal left ventricular function, Palpitati... |
ORPHA:99103 |
Martsolf Syndrome 1 |
|
Short phalanx of finger, Brachycephaly, Finger joint hypermobility, Cardiac arrest, Metatarsus ad... |
OMIM:212720 |
Smith-Mccort Dysplasia 1 |
|
Short phalanx of finger, Hypoplastic acetabulae, Beaking of vertebral bodies, Disproportionate sh... |
OMIM:607326 |
Oculodentodigital Dysplasia |
|
Camptodactyly of finger, Toe syndactyly, Abnormality of the nail, Broad columella, Short hallux, ... |
ORPHA:2710 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Pulmonary arterial hypertension, Iliac crest serration, Wide nose, Metaphyseal cupping, Bell-shap... |
OMIM:613320 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Elbow flexion contracture, Flared iliac wing, Irregular capital femoral epiphysis, Short neck, Ir... |
OMIM:184252 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Hyperlordosis, Right bundle branch block, Tip-toe gait, Reduced left ventricular ejection fractio... |
ORPHA:268 |
Mitochondrial Trifunctional Protein Deficiency |
|
Cardiomyopathy, Tip-toe gait, Skeletal myopathy, Rhabdomyolysis, Lower limb muscle weakness, Left... |
ORPHA:746 |
Neonatal Marfan Syndrome |
|
Aortic root aneurysm, Ascending tubular aorta aneurysm, Flexion contracture, Heart murmur, Crumpl... |
ORPHA:284979 |
Familial Isolated Restrictive Cardiomyopathy |
|
Interstitial cardiac fibrosis, Supraventricular arrhythmia, Syncope, Hypertrophic cardiomyopathy,... |
ORPHA:75249 |
Craniodigital-Intellectual Disability Syndrome |
|
Brachycephaly, Finger syndactyly, Short stature, Long eyelashes, Short nose, Spina bifida occulta... |
ORPHA:1514 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Biparietal narrowing, Hip dislocation, Abnormal toenail morphology, Sparse hair, Alopecia, Promin... |
ORPHA:1005 |
Jeune Syndrome |
|
Abnormal sternum morphology, Short thorax, Abnormality of the liver, Renal insufficiency, Short s... |
ORPHA:474 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Knee flexion contracture, Ventricular septal defect, Kyphosis, Vascular ring, Atrial septal defec... |
OMIM:603387 |
Neurooculocardiogenitourinary Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Sensorineural hearing impairment, Ventricular sep... |
OMIM:618652 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Brachycephaly, Tapered finger, Plagiocephaly, Midface retrusion, Prominent metopic ridge, Sparse ... |
OMIM:619721 |
Monosomy 5P |
|
Finger syndactyly, Wide nasal bridge, Small hand, Short stature, Hypertelorism, Short neck, Scoli... |
ORPHA:281 |
Atelosteogenesis, Type I |
|
Thoracic hypoplasia, Vertebral hypoplasia, Distal tapering femur, Midface retrusion, Elbow disloc... |
OMIM:108720 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Sacroiliac arthritis, Oligoarthritis, Back pain, Dilatation of the ventricular cavity, Abnormalit... |
ORPHA:85438 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Short femoral neck, Kyphosis, Short stature, Delayed ossification of carpal bones, Brachydactyly,... |
OMIM:618392 |
Idiopathic Congenital Hypothyroidism |
|
Hypothermia, Lethargy, Bradycardia, Macroglossia |
ORPHA:95717 |
Hall-Riggs Mental Retardation Syndrome |
|
Irregular vertebral endplates, Prominent nose, Kyphosis, Intrauterine growth retardation, Brachyd... |
OMIM:234250 |
Acrodysostosis |
|
Brachycephaly, Wide nasal bridge, Epiphyseal stippling, Midface retrusion, Abnormality of the nai... |
ORPHA:950 |
Goldberg-Shprintzen Syndrome |
|
Ventricular septal defect, Limb hypertonia, Aganglionic megacolon, Oligodontia, Short philtrum, A... |
OMIM:609460 |
Dyggve-Melchior-Clausen Disease |
|
Hypoplastic acetabulae, Inability to walk, Short neck, Difficulty walking, Limited elbow extensio... |
ORPHA:239 |
Distal Monosomy 10Q |
|
Brachycephaly, Tapered finger, Wide nasal bridge, Hip dislocation, Pectus excavatum, Spina bifida... |
ORPHA:96148 |
Congenital Enterovirus Infection |
|
Hypotension, Leukopenia, Anemia, Infectious encephalitis, Neutropenia, Abnormal macrophage morpho... |
ORPHA:292 |
Mosaic Variegated Aneuploidy Syndrome |
|
Subvalvular aortic stenosis, Aplasia/Hypoplasia of the cerebellum, Abnormal aortic morphology, Mu... |
ORPHA:1052 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Genu varum, Coxa vara, Short long bone, Lower-limb metaphyseal irregularity, Enlarged metaphyses,... |
OMIM:618728 |
Intermediate Osteopetrosis |
|
Increased susceptibility to fractures, Osteomyelitis, Recurrent fractures, Generalized osteoscler... |
ORPHA:210110 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Sagittal craniosynostosis, Plantar flexion contracture, Wide nasal bridge, Cutaneous syndactyly o... |
ORPHA:2872 |
Axial Spondylometaphyseal Dysplasia |
|
Thoracic hypoplasia, Flattened femoral head, Aplasia/Hypoplasia of the vertebrae, Mild postnatal ... |
ORPHA:168549 |
Noonan Syndrome With Multiple Lentigines |
|
Atrioventricular canal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Vascular dil... |
ORPHA:500 |
Metaphyseal Acroscyphodysplasia |
|
Short phalanx of finger, Coxa valga, Wide nasal bridge, Narrow pelvis bone, Midface retrusion, Sh... |
OMIM:250215 |
Borjeson-Forssman-Lehmann Syndrome |
|
Scheuermann-like vertebral changes, Short toe, Tapered finger, Deeply set eye, Kyphosis, Short st... |
OMIM:301900 |
Atelosteogenesis, Type Ii |
|
Thoracic hypoplasia, Midface retrusion, Short neck, Lacunar halos around chondrocytes, Talipes eq... |
OMIM:256050 |
Craniosynostosis, Herrmann-Opitz Type |
|
Brachycephaly, Convex nasal ridge, Finger syndactyly, Turricephaly, Short stature, Abnormality of... |
ORPHA:2145 |
Wild Type Abeta2M Amyloidosis |
|
Abnormality of the thenar eminence, Arthropathy, Arthritis, Bone cyst, Congestive heart failure, ... |
ORPHA:85446 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Short stature, Slender long bone, Macrocephaly, Dolichoceph... |
ORPHA:1185 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Optic atrophy, Hypothermia, Subdural hemorrhage, Smooth philtrum, Thrombocytopenia, Lethargy, Pul... |
ORPHA:79282 |
Fucosidosis |
|
Anterior beaking of lumbar vertebrae, Brachycephaly, Kyphosis, Abnormality of the gallbladder, Ab... |
ORPHA:349 |
Opsismodysplasia |
|
Short phalanx of finger, Severe platyspondyly, Hypoplastic vertebral bodies, Short neck, Short pa... |
OMIM:258480 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Flexion contracture, Hypothermia, Abnormal auditory evoked potentials, Abnormal autonomic nervous... |
ORPHA:99027 |
Aortic Valve Disease 2 |
|
Aortic tortuosity, Patent foramen ovale, Bicuspid aortic valve, Aortic aneurysm, Calcification of... |
OMIM:614823 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Sensorineural hearing impairment, Optic atrophy, Cerebellar hypoplasia, Hypothermia, Hypertrophic... |
OMIM:618329 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Inability to walk, Thoracic kyphosis, Elbow flexion contracture, Abnormality of the shoulder gird... |
ORPHA:206546 |
Atrial Septal Defect, Sinus Venosus Type |
|
Systolic heart murmur, Supraventricular arrhythmia, Premature atrial contractions, Palpitations, ... |
ORPHA:99105 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Cerebellar vermis atrophy, Deeply set eye, Inability to walk, Cerebellar hypoplasia, Clinodactyly... |
OMIM:618087 |
Andersen-Tawil Syndrome |
|
Polymorphic ventricular tachycardia, Torsade de pointes, Ventricular arrhythmia, Micrognathia, Pa... |
ORPHA:37553 |
Myofibrillar Myopathy 10 |
|
Knee flexion contracture, Mandibular prognathia, Increased QRS voltage, Kyphosis, Elbow flexion c... |
OMIM:619040 |
Shukla-Vernon Syndrome |
|
Tapered finger, Pectus excavatum, Wide nasal base, Hypertelorism, Cerebellar atrophy, Long finger... |
OMIM:301029 |
Harel-Yoon Syndrome |
|
Deeply set eye, Inability to walk, Hip dysplasia, Ataxia, Short nose, Frontal bossing, Hypertroph... |
OMIM:617183 |
Pde4D Haploinsufficiency Syndrome |
|
Hypotension, Short phalanx of finger, Brachycephaly, Prominent nasal tip, Caudal interpedicular n... |
ORPHA:439822 |
Atelosteogenesis Type Ii |
|
Short phalanx of finger, Micrognathia, Elbow flexion contracture, Camptodactyly, Short femur, Met... |
ORPHA:56304 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Camptodactyly of finger, Thickened ribs, Wide nasal bridge, Hepatosplenomegaly, Splenomegaly, Inc... |
ORPHA:217085 |
Cardiomyopathy, Dilated, 1Bb |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:612877 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Knee flexion contracture, Genu valgum, Abnormal sternum morphology, Rhizomelia, Short stature, Fi... |
ORPHA:166016 |
Chromosome 5P13 Duplication Syndrome |
|
Brachycephaly, Vesicoureteral reflux, Turricephaly, Wide nasal bridge, Large hands, Macrocephaly,... |
OMIM:613174 |
Tako-Tsubo Cardiomyopathy |
|
Hypotension, Coronary artery stenosis, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris... |
ORPHA:66529 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Camptodactyly of finger, Thickened ribs, Wide nasal bridge, Hepatosplenomegaly, Splenomegaly, Inc... |
ORPHA:217093 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Hand clenching, Kyphosis, Inability to walk, Paucity of anterior horn motor neurons, Hip dysplasi... |
OMIM:611890 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Skull asymmetry, Narrow pelvis bone, Overlapping toe, Short neck, Limited elbow extension, Carpal... |
OMIM:616723 |
Miller-Dieker Syndrome |
|
Sacral dimple, Cerebral cortical atrophy, Clinodactyly of the 5th finger, Ataxia, Short nose, Nep... |
ORPHA:531 |
Noonan Syndrome 3 |
|
Patent ductus arteriosus, Patent foramen ovale, High palate, Ventricular septal defect, Thickened... |
OMIM:609942 |
Distal Trisomy 18Q |
|
Camptodactyly of finger, Progressive intervertebral space narrowing, Clinodactyly of the 5th fing... |
ORPHA:1716 |
Odontochondrodysplasia |
|
Coxa valga, Abnormal metaphysis morphology, Short stature, Short nose, Frontal bossing, Depressed... |
ORPHA:166272 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Left ventricular hyper... |
OMIM:613838 |
Distal 22Q11.2 Microduplication Syndrome |
|
Abnormal antihelix morphology, Camptodactyly of finger, Micrognathia, Smooth philtrum, Optic disc... |
ORPHA:261337 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Rhabdomyolysis, Hypothermia, Ventricular tachycardia, Hepatomegaly, Arrhythmia, Leth... |
ORPHA:159 |
Mosaic Trisomy 14 |
|
Camptodactyly of finger, Wide nasal bridge, Narrow chest, Hypoplasia of penis, Frontal bossing, H... |
ORPHA:1703 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Wide nasal bridge, Short stature, Short nose, Depressed nasal bridge, Hypertelorism, Anteverted n... |
OMIM:616430 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... |
OMIM:613424 |
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita |
|
Hand clenching, Inability to walk, Adducted thumb, Flexion contracture of finger, Depressed nasal... |
ORPHA:319332 |
17P13.3 Microduplication Syndrome |
|
Wide nose, Clinodactyly of the 5th finger, Hypoplasia of penis, Short nose, Frontal bossing, Cong... |
ORPHA:217385 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Knee flexion contracture, Hyperlordosis, Hip contracture, Tip-toe gait, Kyphosis, Hip dysplasia, ... |
OMIM:615290 |
Cdkl5-Deficiency Disorder |
|
Deeply set eye, Hallux valgus, Kyphosis, Synophrys, Gait disturbance, Broad proximal phalanges of... |
ORPHA:505652 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... |
OMIM:613251 |
Acquired Von Willebrand Syndrome |
|
Hypotension, Normocytic anemia, Intracranial hemorrhage, Epistaxis, Aortic regurgitation, Melena,... |
ORPHA:99147 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Narrow palate, Optic atrophy, Exaggerated median tongue furrow, Butterfly verte... |
ORPHA:313892 |
Antisynthetase Syndrome |
|
Pulmonary arterial hypertension, Skin rash, Keratoconjunctivitis sicca, Aortic regurgitation, Myo... |
ORPHA:81 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Wide nasal bridge, Synophrys, Pectus excavatum, Overlapping toe, Cutaneous syndactyly, Prominent ... |
OMIM:618316 |
Cardiomyopathy, Dilated, 1Nn |
|
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... |
OMIM:615916 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Hypoplastic sacrum, Genu valgum, Metaphyseal dysplasia, Upper limb undergrowth, Coxa vara, Capita... |
OMIM:271650 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Hemolytic-uremic syndrome, Wide nasal bridge, Butterfly vertebrae, Camptodactyly, Midface retrusi... |
OMIM:611209 |
Ring Chromosome 6 Syndrome |
|
Wide nasal bridge, Short stature, Hypertelorism, Short neck, Microcephaly, Low posterior hairline... |
ORPHA:1448 |
Greig Cephalopolysyndactyly Syndrome |
|
Delayed cranial suture closure, Wide nasal bridge, Broad hallux, Hirsutism, Postaxial hand polyda... |
OMIM:175700 |
Achondrogenesis Type 1B |
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Short thorax, Abnormal enchondral ossification, Narrow chest, Macrocephaly, Short nose, Frontal b... |
ORPHA:93298 |
Alopecia-Intellectual Disability Syndrome |
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Sparse body hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Short stature, ... |
ORPHA:2850 |
Cardiomyopathy, Dilated, 2D |
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Pulmonary arterial hypertension, Patent foramen ovale, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:619371 |
Nestor-Guillermo Progeria Syndrome |
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Pulmonary arterial hypertension, Dental malocclusion, Right bundle branch block, Flexion contract... |
OMIM:614008 |
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
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Finger syndactyly, Wide nasal bridge, Short stature, Abnormality of the wrist, Abnormal thumb mor... |
ORPHA:1825 |
Childhood Disintegrative Disorder |
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Urinary incontinence, Abnormal emotion/affect behavior, Social and occupational deterioration, Mo... |
ORPHA:168782 |
Intellectual Disability And Myopathy Syndrome |
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Incisor macrodontia, Dental malocclusion, Achilles tendon contracture, Thin upper lip vermilion, ... |
OMIM:619719 |
Developmental And Epileptic Encephalopathy 73 |
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Hip dysplasia, Midface retrusion, Short nose, Narrow nasal bridge, Scoliosis, Microcephaly |
OMIM:618379 |
Diaphanospondylodysostosis |
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Thoracic hypoplasia, Narrow pelvis bone, Hypoplastic fingernail, Short neck, Absent in utero rib ... |
OMIM:608022 |
Truncus Arteriosus |
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Hypoplasia of the thymus, Truncus arteriosus, Tachycardia, Pulmonary artery stenosis, Ventricular... |
ORPHA:3384 |
Diamond-Blackfan Anemia 21 |
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Anemia, Micrognathia, Secundum atrial septal defect, Erythroid hypoplasia, Aortic regurgitation, ... |
OMIM:620072 |
3M Syndrome |
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Horizontal ribs, Enlarged thorax, Midface retrusion, Short neck, Scapular winging, Abnormal metap... |
ORPHA:2616 |
Alpha-Mannosidosis, Infantile Form |
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Cerebral cortical atrophy, Chiari malformation, Hepatosplenomegaly, Short neck, Pneumonia, Subcor... |
ORPHA:309282 |
Brachyolmia Type 1, Toledo Type |
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Back pain, Intervertebral space narrowing, Irregular vertebral endplates, Short femoral neck, Bro... |
OMIM:271630 |
Cardiomyopathy, Dilated, 1I |
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Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Red... |
OMIM:604765 |
Marfan Syndrome |
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Ascending tubular aorta aneurysm, Flexion contracture, Micrognathia, Camptodactyly, Pulmonary art... |
OMIM:154700 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
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Horizontal eyebrow, Inability to walk, Wide nasal bridge, Short stature, Renal dysplasia, Inferio... |
OMIM:618571 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
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Aplasia/Hypoplasia of the cerebellum, Hyperlordosis, Anemia, Cerebral cortical atrophy, Sensorine... |
ORPHA:1192 |
Cornelia De Lange Syndrome 2 |
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Brachycephaly, Synophrys, Hypertrophic cardiomyopathy, Hirsutism, Short neck, Thick eyebrow, Post... |
OMIM:300590 |
Achondroplasia |
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Thoracic hypoplasia, Short proximal phalanx of finger, Limited elbow extension, Narrow greater sc... |
ORPHA:15 |
Rafiq Syndrome |
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Wide nose, Sparse eyebrow, Sparse lateral eyebrow, Prominent nose, Wide nasal bridge, Short statu... |
OMIM:614202 |
Masa Syndrome |
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Hyperlordosis, Shuffling gait, Kyphosis, Short stature, Macrocephaly, Adducted thumb, Microcephal... |
OMIM:303350 |
Intellectual Disability, Wolff Type |
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Camptodactyly of finger, Wide nasal bridge, Clinodactyly of the 5th finger, Abnormality of the na... |
ORPHA:3080 |
Roifman Syndrome |
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Irregular capital femoral epiphysis, Hepatosplenomegaly, Broad femoral head, Postnatal growth ret... |
ORPHA:353298 |
Scheie Syndrome |
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Rhinitis, Sensorineural hearing impairment, Abnormal nerve conduction velocity, Wide mouth, Aorti... |
ORPHA:93474 |
Acromesomelic Dysplasia 1 |
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Short phalanx of finger, Ovoid vertebral bodies, Limited elbow extension, Beaking of vertebral bo... |
OMIM:602875 |
Cardiomyopathy, Dilated, 3B |
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Increased circulating creatine kinase MB isoform |
OMIM:302045 |
Spondyloepiphyseal Dysplasia Congenita |
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Genu valgum, Upper limb undergrowth, Short femoral neck, Limited elbow movement, Short long bone,... |
ORPHA:94068 |
Gand Syndrome |
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Deeply set eye, Wide nasal bridge, Hypertelorism, Broad nasal tip, Long toe, Long fingers, Sparse... |
OMIM:615074 |
Osteogenesis Imperfecta |
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Flexion contracture, Delayed eruption of teeth, Micrognathia, Aortic dissection, Thrombocytopenia... |
ORPHA:666 |
Scapuloperoneal Myopathy, X-Linked Dominant |
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Knee flexion contracture, Forearm supination contracture, Right bundle branch block, Scapuloperon... |
OMIM:300695 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
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Recurrent skin infections, Cleft palate, Arthrogryposis multiplex congenita, Posteriorly rotated ... |
OMIM:601776 |
Xq27.3Q28 Duplication Syndrome |
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Sparse body hair, Deeply set eye, Small hand, Short stature, Bulbous nose, Short foot, Intrauteri... |
ORPHA:261483 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
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Brachycephaly, Decreased palmar creases, Kyphosis, Wide nasal bridge, Short stature, Prominent na... |
OMIM:615834 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Patent ductus arteriosus, Patent foramen ovale, Increased variability in muscle fiber diameter, F... |
ORPHA:17 |
Gm1 Gangliosidosis |
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Camptodactyly of finger, Hepatosplenomegaly, Hirsutism, Abnormal metaphysis morphology, Unsteady ... |
ORPHA:354 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
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Gait ataxia, Hyperlordosis, Increased vertebral height, Short stature, Truncal ataxia, Abnormal v... |
OMIM:616817 |
15Q Overgrowth Syndrome |
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Micrognathia, Bifid uvula, Contracture of the proximal interphalangeal joint of the 2nd finger, S... |
ORPHA:314585 |
3C Syndrome |
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Atrioventricular canal defect, Optic atrophy, Micrognathia, Short neck, Cleft palate, Orofacial c... |
ORPHA:7 |
Laubry-Pezzi Syndrome |
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Elevated pulmonary artery pressure, Patent foramen ovale, Patent ductus arteriosus, Right ventric... |
ORPHA:99094 |
Aneurysm-Osteoarthritis Syndrome |
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Camptodactyly of finger, Bifid uvula, Aortic dissection, Cleft palate, Dilatation of the sinus of... |
ORPHA:284984 |
Trichorhinophalangeal Syndrome, Type Iii |
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Short phalanx of finger, Underdeveloped nasal alae, Sparse lateral eyebrow, Avascular necrosis of... |
OMIM:190351 |
Trichohepatoenteric Syndrome 1 |
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