Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Ribbing Disease |
|
Diaphyseal sclerosis |
OMIM:601477 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration |
OMIM:615517 |
Superior Transverse Scapular Ligament, Calcification Of, Familial |
|
Ectopic ossification in ligament tissue |
OMIM:601708 |
Plasma Fibronectin Deficiency |
|
Reduced circulating fibronectin level |
OMIM:614101 |
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 |
|
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration |
ORPHA:2843 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Buschke-Ollendorff Syndrome |
|
Joint stiffness, Osteopoikilosis, Flexion contracture |
OMIM:166700 |
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 |
Osteomalacia, Sclerosing, With Cerebral Calcification |
|
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density |
OMIM:259660 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
Familial Alzheimer-Like Prion Disease |
|
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Atten... |
ORPHA:280397 |
Distal Osteosclerosis |
|
Craniofacial osteosclerosis, Hyperostosis, Diaphyseal sclerosis |
OMIM:126250 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Y |
|
Elevated circulating creatine kinase concentration |
OMIM:616687 |
Glycogen Storage Disease Xiii |
|
Elevated circulating creatine kinase concentration |
OMIM:612932 |
Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Mucopolysaccharidosis Type 4 |
|
Short stature, Short thorax, Reduced bone mineral density, Anteverted nares, Gait disturbance, Mu... |
ORPHA:582 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Osteopoikilosis, Increased bone mineral density |
ORPHA:1562 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Craniodiaphyseal Dysplasia |
|
Facial hyperostosis, Cranial hyperostosis, Diaphyseal sclerosis |
OMIM:218300 |
Severe Primary Trimethylaminuria |
|
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Trimethylaminuria... |
ORPHA:468726 |
Myopathy, Vacuolar, With Casq1 Aggregates |
|
Elevated circulating creatine kinase concentration |
OMIM:616231 |
Mucopolysaccharidosis, Type Vi |
|
Hirsutism, Hypoplastic acetabulae, Metaphyseal irregularity, Epiphyseal dysplasia, Splenomegaly, ... |
OMIM:253200 |
Kniest Dysplasia |
|
Short thorax, Abnormal bone structure, Short long bone, Depressed nasal bridge, Coronal cleft ver... |
ORPHA:485 |
Cartilage-Hair Hypoplasia |
|
Metaphyseal dysplasia, Abnormal form of the vertebral bodies, Short thorax, Limited elbow extensi... |
ORPHA:175 |
Mucopolysaccharidosis, Type Vii |
|
Hirsutism, Talipes equinovarus, Short stature, Splenomegaly, Postnatal growth retardation, Dermat... |
OMIM:253220 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
Mucopolysaccharidosis, Type Iva |
|
Epiphyseal deformities of tubular bones, Chondroitin sulfate excretion in urine, Osteoporosis, Ky... |
OMIM:253000 |
Myopathy, Distal, Tateyama Type |
|
Elevated circulating creatine kinase concentration |
OMIM:614321 |
Van Buchem Disease |
|
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density |
OMIM:239100 |
Mucolipidosis Ii Alpha/Beta |
|
Talipes equinovarus, Lower thoracic interpediculate narrowness, Splenomegaly, Beaking of vertebra... |
OMIM:252500 |
Loeffler Endocarditis |
|
Left atrial enlargement, Eosinophilia, Aortic valve stenosis, Pericarditis, Mitral regurgitation,... |
ORPHA:75566 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 |
|
Elevated circulating creatine kinase concentration |
OMIM:617232 |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Osteoporosis, Osteopenia |
OMIM:615271 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology |
ORPHA:3416 |
Mucopolysaccharidosis, Type Ivb |
|
Epiphyseal deformities of tubular bones, Aortic valve stenosis, Osteoporosis, Kyphosis, Flaring o... |
OMIM:253010 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Rickets |
OMIM:241520 |
Hurler Syndrome |
|
Short stature, Splenomegaly, Camptodactyly of finger, Anteverted nares, Hypertension, Mucopolysac... |
ORPHA:93473 |
Chondrodysplasia Calcificans Metaphysealis |
|
Mucopolysacchariduria, Metaphyseal dysplasia, Metaphyseal chondrodysplasia |
OMIM:215050 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Mitral regurgitation, Marked muscular hypertrophy, Ventricular hypertrophy, Joint contracture of ... |
OMIM:300280 |
Osteochondrosis Of The Metatarsal Bone |
|
Structural foot deformity, Sclerosis of foot bone, Abnormality of the third metatarsal bone, Arth... |
ORPHA:564003 |
Mucopolysaccharidosis Type 1 |
|
Short stature, Abnormal form of the vertebral bodies, Splenomegaly, Thick nasal alae, Hypertrophi... |
ORPHA:579 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 8 |
|
Elevated circulating creatine kinase concentration |
OMIM:618135 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Smooth philtrum, Mitral valve prolapse, Mitral regurgitation, Mandibular prognathia, Steppage gai... |
ORPHA:324410 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Hypoplasia of the femoral head, Rhizomelia, Hip dysplasia, Limitation of joint mobility, Wide dis... |
OMIM:619598 |
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteoporosis, Osteopenia |
OMIM:615269 |
Acromesomelic Dysplasia 2A |
|
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Aplasia/Hypoplasia of metatarsal bones,... |
OMIM:200700 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Absent ossification of cervical vertebral bodies, Sclerotic scapulae, Absent ossification of thor... |
OMIM:601376 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormality of the elbow, Pectus carinatum, Short stature, Synophrys, Finger syndactyly, Thick ey... |
ORPHA:3268 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Exostoses of the ulna, Exostoses of the radius, Increased bone mineral density, Deformed humerus,... |
ORPHA:85188 |
Mucopolysaccharidosis, Type Iiia |
|
Ovoid thoracolumbar vertebrae, Hepatomegaly, Thickened ribs, Hirsutism, Coarse hair, Dense calvar... |
OMIM:252900 |
Acrocapitofemoral Dysplasia |
|
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... |
OMIM:607778 |
Isolated Osteopoikilosis |
|
Keloids, Sclerotic foci in hand bones, Sclerosis of foot bone, Abnormality of femur morphology, A... |
ORPHA:166119 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Mucopolysacchariduria, Renal agenesis, Lacunar stroke, Thoracic hypoplasia, Low ant... |
OMIM:618440 |
Mucopolysaccharidosis, Type Iiic |
|
Ovoid thoracolumbar vertebrae, Hepatomegaly, Thickened ribs, Hirsutism, Kyphoscoliosis, Coarse ha... |
OMIM:252930 |
17Q21.31 Microduplication Syndrome |
|
Toe syndactyly, Short nose, Sandal gap, Attention deficit hyperactivity disorder, Thick eyebrow, ... |
ORPHA:217340 |
X-Linked Intellectual Disability, Stoll Type |
|
Broad nasal tip, Short stature, Hypertelorism, Frontal bossing, Anteverted nares, Widow's peak, C... |
ORPHA:85326 |
Congenital Heart Defects, Multiple Types, 2 |
|
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Atrial fi... |
OMIM:614980 |
Mucopolysaccharidosis, Type Iiid |
|
Ovoid thoracolumbar vertebrae, Hepatomegaly, Thickened ribs, Depressed nasal bridge, Hirsutism, C... |
OMIM:252940 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Ventricular septal defect, Mitral regur... |
ORPHA:3092 |
Mucopolysaccharidosis Type 6 |
|
Mucopolysacchariduria, Epiphyseal dysplasia, Abnormality of the metaphysis, Ovoid vertebral bodie... |
ORPHA:583 |
Avascular Necrosis Of Femoral Head, Primary, 1 |
|
Generalized osteoporosis |
OMIM:608805 |
Mueller-Weiss Syndrome |
|
Sclerosis of foot bone, Abnormality of the os naviculare pedis, Positional foot deformity, Limita... |
ORPHA:566943 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Irregular epiphyses, Micrognathia, Metatarsus adductus, Flat capital femoral epiphysis, Talipes e... |
OMIM:601560 |
19P13.12 Microdeletion Syndrome |
|
Conductive hearing impairment, Ventricular septal defect, Cleft palate, Hypodontia, Mitral regurg... |
ORPHA:254346 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... |
OMIM:604169 |
Filippi Syndrome |
|
Underdeveloped nasal alae, Dystonia, Cerebellar atrophy, Hypertrichosis, Intrauterine growth reta... |
OMIM:272440 |
Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Hypertrichosis, Short stature, Neurodegeneration, Mild short stature, Split hand, K... |
OMIM:309900 |
Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Generalized osteosclerosis, Craniofacial hyperostosis, Abnormal cortical bo... |
ORPHA:2790 |
Optic Atrophy 8 |
|
Optic atrophy, Abnormal auditory evoked potentials, Mitral valve prolapse, Mitral regurgitation, ... |
OMIM:616648 |
Mucopolysaccharidosis, Type Iiib |
|
Ovoid thoracolumbar vertebrae, Hepatomegaly, Thickened ribs, Hirsutism, Coarse hair, Dense calvar... |
OMIM:252920 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteoporosis, Osteopenia |
OMIM:615270 |
Weill-Marchesani Syndrome 1 |
|
Broad metatarsal, Broad palm, Spinal canal stenosis, Depressed nasal bridge, Thin bony cortex, Mi... |
OMIM:277600 |
Huntington Disease-Like 2 |
|
Dystonia, Dementia, Weight loss, Apathy, Bradykinesia, Irritability, Action tremor, Anxiety, Depr... |
OMIM:606438 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Dementia, Inappropriate behavior, Motor deterioration, Apathy, Bradykinesia, Shuffling gait, Fall... |
ORPHA:412066 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Rhizomelia, Short humerus, Short femur, Epiphyseal stippling |
OMIM:600121 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Dystonia, Dementia, Urinary urgency, Bradykinesia, Resting tremor, Anxiety, Depression |
OMIM:605909 |
Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Abnormal left ventricular function, Mitral regurgitation, Congestive hear... |
OMIM:615373 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Cerebral atrophy, Pectus excavatum, Spindle-shaped finger, Short stature, Abnormal vertebral morp... |
ORPHA:166024 |
Fibular Hemimelia |
|
Abnormal lower limb bone morphology, Talipes equinovarus, Renal dysplasia, Hypoplastic acetabulae... |
ORPHA:93323 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Depressed nasal bridge, Vertebral wedging, Beaking of vertebral bodies, Bowing of the long bones,... |
ORPHA:40 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Recurrent fractures, Increased bone mineral density |
OMIM:166740 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Depressed nasal bridge, Hirsutism, Talipes equinovarus, Short stature, Hypertelorism, Small hand,... |
OMIM:300434 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Tarsal synostosis, Micrognathia, Flat capital femoral epiphysis, Patellar aplasia, Hypoplasia of ... |
OMIM:147891 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Dystonia, Inappropriate behavior, Cognitive impairment, Tremor, Ataxia, Anxiety, Depression, Memo... |
ORPHA:401901 |
Melorheostosis |
|
Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone mineral density, J... |
ORPHA:2485 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Craniosynostosis, Increased bone mineral density |
ORPHA:178377 |
Desbuquois Dysplasia 1 |
|
Monkey wrench femoral neck, Genu varum, Talipes equinovarus, Short metatarsal, Short nose, Short ... |
OMIM:251450 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
Acrocephalopolydactyly |
|
Depressed nasal ridge, Thoracic hypoplasia, Limb undergrowth, Short nose, Hypertelorism, Oxycepha... |
ORPHA:221054 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Reduced ejection fraction, Hypothermia, Aortic regurgitation, Tricus... |
OMIM:616501 |
Hurler Syndrome |
|
C1-C2 subluxation, Hirsutism, Short stature, Splenomegaly, Hepatosplenomegaly, Anteverted nares, ... |
OMIM:607014 |
Weill-Marchesani Syndrome 2 |
|
Short stature, Short metatarsal, Broad skull, Aortic valve stenosis, Elbow flexion contracture, B... |
OMIM:608328 |
Bardet-Biedl Syndrome 12 |
|
Obesity, Cognitive impairment, Abnormality of the kidney |
OMIM:615989 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Thickened cortex of long bones, Osteopetrosis, Calvarial osteosclerosis |
OMIM:607634 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Intrauterine growth retardation, Short stature, Short nose, Abnormal form of the vertebral bodies... |
ORPHA:2370 |
Peripartum Cardiomyopathy |
|
Dilated cardiomyopathy, Myocarditis, Left atrial enlargement, Right ventricular failure, Abnormal... |
ORPHA:563 |
Multiple Sulfatase Deficiency |
|
Hepatomegaly, Mucopolysacchariduria, Cerebellar atrophy, Short stature, Hypoplastic vertebral bod... |
OMIM:272200 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior, Large for gestational age |
ORPHA:356996 |
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome |
|
Adducted thumb, Short stature, Hypertelorism, Wide nasal bridge, Frontal bossing, Aplasia/Hypopla... |
ORPHA:3207 |
Cardiac Valvular Dysplasia, X-Linked |
|
Bicuspid aortic valve, Mitral valve prolapse, Mitral regurgitation, Short chordae tendineae of th... |
OMIM:314400 |
Mucopolysaccharidosis Type 3 |
|
Hirsutism, Abnormal form of the vertebral bodies, Splenomegaly, Reduced bone mineral density, Thi... |
ORPHA:581 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Cerebral atrophy, High palate, Mitral valve prolapse, Mitral regurgitation, Long philtrum, Facial... |
OMIM:615539 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Optic atrophy, Ragged-red muscle fibers, Mitral valve prolapse, Mitral regurgitation, Steppage ga... |
OMIM:258450 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Omphalocele, Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Split hand, F... |
ORPHA:3329 |
Multiple Sulfatase Deficiency |
|
Broad hallux phalanx, Hepatomegaly, Mucopolysacchariduria, Depressed nasal bridge, Short stature,... |
ORPHA:585 |
Sclerosteosis |
|
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology |
ORPHA:3152 |
Gm1 Gangliosidosis Type 1 |
|
Hirsutism, Beaking of vertebral bodies T12-L3, Hepatosplenomegaly, Short long bone, Spatulate rib... |
ORPHA:79255 |
Anauxetic Dysplasia 2 |
|
Metaphyseal dysplasia, Sparse hair, Small nail, Hypoplasia of the femoral head, Hypoplastic iliac... |
OMIM:617396 |
Flynn-Aird Syndrome |
|
Increased bone density with cystic changes, Osteoporosis, Increased bone mineral density, Joint s... |
OMIM:136300 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Broad ischia, Metaphyseal irregularity, Brachydactyly, Osteoporotic tarsals, Flat acetabular roof... |
OMIM:609052 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
High, narrow palate, Right ventricular dilatation, Mitral valve prolapse, Dysplastic tricuspid va... |
OMIM:612863 |
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Short stature, Hypertelorism, Overlapping toe, Inability to walk, Cerebellar hypoplasia, Microcep... |
OMIM:618572 |
Desbuquois Syndrome |
|
Genu recurvatum, Camptodactyly of finger, Anteverted nares, Sparse hair, Abnormal eyelash morphol... |
ORPHA:1425 |
Codas Syndrome |
|
Metaphyseal dysplasia, Depressed nasal bridge, Coronal cleft vertebrae, Short stature, Short phal... |
OMIM:600373 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Depressed nasal bridge, Pectus carinatum, Tapered finger, Short finger, Hypertelorism, Platyspond... |
OMIM:313420 |
Muscular Dystrophy, Becker Type |
|
Cardiomyopathy, Muscular dystrophy, Calf muscle pseudohypertrophy, Abnormal EKG, Arrhythmia |
OMIM:300376 |
Familial Dilated Cardiomyopathy |
|
Right ventricular dilatation, Atrial fibrillation, Mitral regurgitation, Ventricular arrhythmia, ... |
ORPHA:217607 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Pulmonary insufficiency, High palate, Mitral valve prolapse, Tendon rupture, Mitral regurgitation... |
ORPHA:230851 |
Bardet-Biedl Syndrome 18 |
|
Obesity, Cognitive impairment, Renal insufficiency |
OMIM:615995 |
Nathalie Syndrome |
|
Abnormal EKG, Skeletal muscle atrophy, Hearing impairment |
OMIM:255990 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal endosteal sclerosis, Clavicul... |
OMIM:144750 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypospadias, 2-3 toe syndactyly, Short stature, Toe clinodactyly, Micropenis, Broad skull, Bulbou... |
ORPHA:163979 |
Mucopolysaccharidosis Type 7 |
|
Metatarsus adductus, Mucopolysacchariduria, Diaphyseal thickening, Epiphyseal stippling, Anterior... |
ORPHA:584 |
Brachyolmia Type 1, Hobaek Type |
|
Flat acetabular roof, Intervertebral space narrowing, Sclerotic foci of metaphyses of the elbow, ... |
OMIM:271530 |
Scheie Syndrome |
|
Mandibular prognathia, Aortic regurgitation, Spondylolisthesis, Short neck, Aortic valve stenosis |
OMIM:607016 |
Familial Aortic Dissection |
|
Aortic dissection, Mucoid extracellular matrix accumulation, Descending thoracic aorta aneurysm, ... |
ORPHA:229 |
Osteosclerotic Metaphyseal Dysplasia |
|
Clavicular sclerosis |
OMIM:615198 |
Contractural Arachnodactyly, Congenital |
|
Bicuspid aortic valve, Crumpled ear, Distal arthrogryposis, Hip contracture, Aortic root aneurysm... |
OMIM:121050 |
Cardiospondylocarpofacial Syndrome |
|
Conductive hearing impairment, High, narrow palate, Mitral valve prolapse, Failure of eruption of... |
ORPHA:3238 |
Bardet-Biedl Syndrome 10 |
|
Cognitive impairment, Renal cyst, Obesity, Renal insufficiency, Abnormality of the kidney |
OMIM:615987 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Lumbar platyspondyly, Increased intervertebral space, Depressed nasal bridge, Beaking of vertebra... |
OMIM:618961 |
Atrial Standstill |
|
Syncope, Ventricular escape rhythm, Cardiac conduction abnormality, Abnormal P wave, Reduced ejec... |
ORPHA:1344 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, T-wave invers... |
OMIM:602087 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Bicuspid aortic valve, Ascending tubular aorta aneurysm, Aortic dissection, Cystic medial necrosi... |
OMIM:132900 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Cloverleaf skull, Large fontanelles, Abnormality of epiphysis morphology, Bowing of the long bone... |
ORPHA:93267 |
Noonan Syndrome 8 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Eczema, Mitral regurgitation, Patent duct... |
OMIM:615355 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Transient ischemic attack, Anomalous pu... |
ORPHA:1330 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Anterior plagiocephaly, Short nose, Abnormality of cranial sutures, Slender finger, Oligosacchari... |
ORPHA:163649 |
Otopalatodigital Syndrome Type 1 |
|
Hypoplastic frontal sinuses, Abnormal vertebral segmentation and fusion, Bowing of the long bones... |
ORPHA:90650 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Bicuspid aortic valve, Atrial fibrillation, Mitral regurgitation, Bradycardia, Pulmonic stenosis,... |
OMIM:616201 |
Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Ventricular septal defect, Micrognathia, Mitral valve prolapse, Increased mean... |
OMIM:612561 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Lumbar kyphosis, Deep palmar crease, Short nose, Hepatosplenomegaly, Hypertrophic cardiomyopathy,... |
ORPHA:505248 |
Cardiomyopathy, Dilated, 1Kk |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Atrial fibrillation, Mitral regurgitation, V... |
OMIM:615248 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Abnormality of the knee, Short stature, Abnormal sternum morphology, Short nose, Cubitus valgus, ... |
ORPHA:457395 |
Epilepsy, Progressive Myoclonic, 12 |
|
Dysmetria, Ataxia, Mental deterioration, Anxiety, Attention deficit hyperactivity disorder, Depre... |
OMIM:619191 |
Periventricular Nodular Heterotopia |
|
Aortic regurgitation, Patent ductus arteriosus, Aortic aneurysm, Abnormal heart valve morphology,... |
ORPHA:98892 |
Creutzfeldt-Jakob Disease |
|
Dementia, Apathy, Irritability, Anxiety, Gait ataxia, Depression, Memory impairment |
OMIM:123400 |
Juberg-Hayward Syndrome |
|
Hypospadias, Hypoplasia of the radius, Radioulnar synostosis, Toe syndactyly, Highly arched eyebr... |
ORPHA:2319 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hirsutism, Depressed nasal bridge, Talipes equinovarus, Short stature, Congenital bilateral hip d... |
ORPHA:85288 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Talipes equinovarus, Short nose, Micropenis, Anteverted nares, Broad palm, Congenital hip disloca... |
OMIM:300209 |
Diastrophic Dysplasia |
|
Midface retrusion, Abnormal form of the vertebral bodies, Symphalangism affecting the phalanges o... |
ORPHA:628 |
Mucopolysaccharidoses, Unclassified Types |
|
Mucopolysacchariduria, Finger swelling |
OMIM:252700 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Short stature, Hypertelorism, Small hand, Prominent nasal bridge, Slender finger, Kyphosis, Ataxi... |
OMIM:618443 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Anomalous branches of internal carotid artery, G... |
ORPHA:363705 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Widow's peak, Interphalangeal joint contracture of finger, Intrauterine growth retardation, Short... |
OMIM:606242 |
Grange Syndrome |
|
Hypertension, Ventricular septal defect, Aortic regurgitation, Patent ductus arteriosus, Arterial... |
ORPHA:79094 |
Spinocerebellar Ataxia 12 |
|
Dementia, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Action tr... |
OMIM:604326 |
Monosomy 18Q |
|
Left-to-right shunt, Patent ductus arteriosus, Cerebellar hypoplasia, Aortic valve stenosis, Left... |
ORPHA:1600 |
Femoral-Facial Syndrome |
|
Micrognathia, Talipes equinovarus, Long penis, Short nose, Abnormal localization of kidney, Coxa ... |
ORPHA:1988 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
2-3 toe syndactyly, Tapered finger, Short nose, Kyphosis, Microcephaly, Thick eyebrow, Attention ... |
OMIM:617061 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormality of the vertebral column, Cervical platyspondyly, Abnormal ilium morphology, Genu varu... |
ORPHA:93314 |
Attrv122I Amyloidosis |
|
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Abnormal autonomic nervous system physiology, S... |
ORPHA:85451 |
Noonan Syndrome 13 |
|
Widely spaced teeth, Micrognathia, High palate, Mitral valve prolapse, Microdontia, Mitral regurg... |
OMIM:619087 |
Osteogenesis Imperfecta, Type Ii |
|
Pulmonary insufficiency, Thoracic hypoplasia, Tibial bowing, Convex nasal ridge, Broad long bones... |
OMIM:166210 |
Craniodiaphyseal Dysplasia |
|
Depressed nasal bridge, Diaphyseal thickening, Short stature, Wide nasal bridge, Frontal bossing,... |
ORPHA:1513 |
Aarskog-Scott Syndrome |
|
Broad palm, Pectus excavatum, High anterior hairline, Short stature, Abnormal vertebral segmentat... |
ORPHA:915 |
Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
Maternal Uniparental Disomy Of Chromosome X |
|
Shield chest, Depressed nasal bridge, Rocker bottom foot, Short stature, Cubitus valgus, Congesti... |
ORPHA:261519 |
Multiple Metaphyseal Dysplasia |
|
Depressed nasal ridge, Gait disturbance, Short stature, Aplasia/Hypoplasia of the thumb, Abnormal... |
ORPHA:93430 |
16Q24.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect, Micrognathia, Smooth philtrum, Increased mean ... |
ORPHA:261250 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Aortic root aneurysm, Patent ductus ar... |
ORPHA:91387 |
Cednik Syndrome |
|
Depressed nasal ridge, Nephrotic syndrome, Short stature, Hypertelorism, Prominent nasal bridge, ... |
ORPHA:66631 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Narrow mouth, Abnormal cardiac septum morphology, Mitral regurgitation |
ORPHA:83473 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... |
ORPHA:174 |
Camurati-Engelmann Disease, Type 2 |
|
Mitral valve prolapse, Hip contracture, Skeletal muscle atrophy, Mitral regurgitation, Knee flexi... |
OMIM:606631 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Large beaked nose, Convex nasal ridge, Intrauterine growth retardation, Growth delay, Rocker bott... |
OMIM:610756 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair |
|
Dandy-Walker malformation, Sparse eyelashes, Depressed nasal bridge, Short stature, Trigonocephal... |
OMIM:616901 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Ventricular septal defect, Short philtrum, Mitral regurgitation, Aortic root aneurysm, Attention ... |
OMIM:301039 |
Mucolipidosis Iii Gamma |
|
Aortic regurgitation, Kyphosis, Hyperlordosis, Short neck, Aortic valve stenosis, Scoliosis |
OMIM:252605 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Dilated cardiomyopathy, Pulmonary insufficiency, Cleft palate, Short lingual frenulum, Mitral reg... |
ORPHA:2326 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Pectus excavatum, Pectus carinatum, Tapered finger, Short stature, Large hands, Wide nose, Hypert... |
ORPHA:276630 |
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies |
|
Broad nasal tip, Thin eyebrow, Tapered finger, Hypertelorism, Wide nasal bridge, Macrocephaly, Hi... |
OMIM:618147 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Mucopolysacchariduria, Proteinuria, Generalized bone demineralization, Nephrotic syndrome |
OMIM:215250 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Conotruncal defect, Macroglossia, Aortic regurgitation, Coarctation of aorta, Subcortical cerebra... |
ORPHA:96147 |
Metatropic Dysplasia |
|
Long thorax, Abnormal intervertebral disk morphology, Depressed nasal bridge, Abnormal form of th... |
ORPHA:2635 |
Mitral Valve Prolapse 1 |
|
High, narrow palate, High palate, Mitral valve prolapse, Mitral regurgitation, Reversed usual ver... |
OMIM:157700 |
Acromicric Dysplasia |
|
Abnormality of femur morphology, Fifth metacarpal with ulnar notch, Abnormality of epiphysis morp... |
ORPHA:969 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Cleft palate, Neutropenia, High palate, Mitral regurgitation, Monocytosis, Leukopen... |
OMIM:612541 |
Marfanoid Habitus With Situs Inversus |
|
Mitral valve prolapse, Mandibular prognathia, Situs inversus totalis, Aortic regurgitation, Aorti... |
OMIM:609008 |
Cranioectodermal Dysplasia |
|
Abnormal diaphysis morphology, Pectus excavatum, Rhizomelia, Craniosynostosis, Osteoporosis, Abno... |
ORPHA:1515 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, T-wave invers... |
OMIM:602086 |
Axial Osteomalacia |
|
Osteomalacia, Increased bone mineral density |
OMIM:109130 |
Mucolipidosis Type Ii |
|
Hip contracture, Splenomegaly, Diastasis recti, Hepatosplenomegaly, Pulmonary insufficiency, Cond... |
ORPHA:576 |
Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Osteoporosis, Camptodactyly, Joint contracture of the hand, Osteopenia |
OMIM:264010 |
Coffin-Siris Syndrome 3 |
|
Depressed nasal bridge, Hirsutism, Hypertrichosis, Short stature, Intrauterine growth retardation... |
OMIM:614608 |
Dysplastic Cortical Hyperostosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Aplasia/Hypoplasia of fingers, Broad hallux phalanx, Abnormal hair morphology, Short stature, Toe... |
ORPHA:3082 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Broad nasal tip, Cerebellar atrophy, Short stature, Alopecia, Wide nasal base, Deeply set eye, Br... |
OMIM:617763 |
Osteopetrosis, Autosomal Dominant 2 |
|
Hip osteoarthritis, Generalized osteosclerosis, Osteopetrosis, Fractures of the long bones, Mandi... |
OMIM:166600 |
Coronary Arterial Fistula |
|
Coronary artery aneurysm, Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Vascular dila... |
ORPHA:2041 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... |
ORPHA:216694 |
Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
Pycnodysostosis |
|
Carious teeth, Micrognathia, Delayed eruption of permanent teeth, Abnormality of pelvic girdle bo... |
OMIM:265800 |
Polyvalvular Heart Disease Syndrome |
|
Micrognathia, High palate, Mitral valve prolapse, Short philtrum, Dental crowding, Abnormality of... |
ORPHA:228410 |
Metaphyseal Acroscyphodysplasia |
|
Abnormal diaphysis morphology, Depressed nasal ridge, Genu varum, Abnormality of femur morphology... |
ORPHA:1240 |
Mental Retardation, X-Linked 91 |
|
Short nose, Cubitus valgus, Small hand, Short 5th finger, Short foot, Low posterior hairline, Cli... |
OMIM:300577 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Tricuspid stenosis, Mitral stenosis, Delayed eruption of teeth, Hearing impairment, Camptodactyly... |
OMIM:143095 |
Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
Fabry Disease |
|
Hearing impairment, Achalasia, Transient ischemic attack, Hypertrophic cardiomyopathy, Hypertensi... |
ORPHA:324 |
Sick Sinus Syndrome 2 |
|
Sinus bradycardia, Mitral valve prolapse, Atrial fibrillation, Aortic regurgitation, Left ventric... |
OMIM:163800 |
Craniofrontonasal Dysplasia |
|
Hypospadias, Broad hallux phalanx, Congenital pseudoarthrosis of the clavicle, Finger syndactyly,... |
ORPHA:1520 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Short stature, Broad palm, Small epiphyses, Anterior rib cupping, Depressed nasal bridge, Metaphy... |
OMIM:300232 |
Turnpenny-Fry Syndrome |
|
Torticollis, Malar flattening, Patent ductus arteriosus, Thin upper lip vermilion, Low-set ears, ... |
OMIM:618371 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Round ear, Ventricular septal defect, Micrognathia, Aortic regurgitation, Coarctation of aorta, S... |
OMIM:614114 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Dilated cardiomyopathy, Syncope, Pericardial effusion, Ventricular arrhythmia, Atrial fibrillatio... |
ORPHA:300751 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Upper limb undergrowth, Short metatarsal, Hypoplastic pelvis, Broad palm, Gait disturbance, Pectu... |
ORPHA:93351 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Left atrial enlargement, Congestive heart failure, Atrial fibrillation, Mitral regurgitation |
OMIM:617047 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Abnormality of the vertebral column, Abnormal motor neuron morphology, Urinary bladder sphincter ... |
ORPHA:52430 |
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Elevated circulating creatine kinase concentration |
OMIM:160570 |
Pseudoachondroplasia |
|
Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Genu recurvatum, Fragmented, irregula... |
OMIM:177170 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Depressed nasal ridge, Intrauterine growth retardation, Thin ribs, Short stature, Hypoplastic ili... |
OMIM:300863 |
Spondyloepimetaphyseal Dysplasia With Hypotrichosis |
|
Proximal femoral metaphyseal irregularity, Proximal humeral metaphyseal irregularity, Genu varum,... |
OMIM:183849 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity, Aggressive behavior |
OMIM:616521 |
Steel Syndrome |
|
Short stature, Hypertelorism, Dislocated radial head, Wide nasal bridge, Scoliosis |
OMIM:615155 |
Tropical Endomyocardial Fibrosis |
|
Left atrial enlargement, Splenomegaly, Abnormal EKG, Eosinophilia, Abnormal P wave, Reduced eject... |
ORPHA:75565 |
Opsismodysplasia |
|
Short nose, Severe platyspondyly, Anteverted nares, Short long bone, Flat acetabular roof, Anteri... |
OMIM:258480 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hypospadias, Spinal canal stenosis, Depressed nasal bridge, Cone-shaped epiphysis, Intrauterine g... |
OMIM:614613 |
Ruvalcaba Syndrome |
|
Short nose, Abnormal localization of kidney, Proximal placement of thumb, Intrauterine growth ret... |
ORPHA:3121 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Deviation of the 5th toe, Short nose, Slender finger, Cerebellar hypoplasia, Anteverted nares, Sp... |
ORPHA:391408 |
Spinocerebellar Ataxia 48 |
|
Dystonia, Cachexia, Dysmetria, Tremor, Ataxia, Urinary incontinence, Irritability, Mental deterio... |
OMIM:618093 |
Pierpont Syndrome |
|
Broad palm, Broad nasal tip, Short stature, Short finger, Brachycephaly, Wide nose, Short nose, H... |
OMIM:602342 |
Congenital Hypothyroidism |
|
Sinusitis, Hypertension, Optic atrophy, Hypothermia, Macroglossia, Oral cleft, Abnormal pericardi... |
ORPHA:442 |
Zimmermann-Laband Syndrome 3 |
|
Broad nasal tip, Triphalangeal thumb, Small nail, Hypertrichosis, Low anterior hairline, Absent t... |
OMIM:618658 |
Leigh Syndrome With Cardiomyopathy |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Optic atrophy, Dystonia, Mitral regurgitatio... |
ORPHA:70474 |
Metatropic Dysplasia |
|
Epiphyseal dysplasia, Short ribs, Halberd-shaped pelvis, Anisospondyly, Flared femoral metaphysis... |
OMIM:156530 |
Spondyloepiphyseal Dysplasia Tarda |
|
Abnormality of the tibial plateaux, Knee osteoarthritis, Dysplasia of the femoral head, Abnormal ... |
ORPHA:93284 |
Lamb-Shaffer Syndrome |
|
Depressed nasal bridge, Pectus carinatum, Long fingers, Wide nasal bridge, Clinodactyly, Frontal ... |
OMIM:616803 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Dandy-Walker malformation, Highly arched eyebrow, Cerebellar atrophy, Depressed nasal bridge, Gro... |
ORPHA:438178 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Short stature, Short nose, Short ribs, Severe platyspondyly, Iliac crest serration, Anteverted na... |
OMIM:613320 |
Cardiomyopathy, Dilated, 1Nn |
|
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia |
OMIM:615916 |
Dyggve-Melchior-Clausen Disease |
|
Abnormality of the vertebral column, Metaphyseal dysplasia, Hypoplastic acetabulae, Epiphyseal dy... |
ORPHA:239 |
Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Osteopetrosis |
OMIM:600329 |
Dyggve-Melchior-Clausen Disease |
|
Genu varum, Shield chest, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Enlargement... |
OMIM:223800 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Renovascular hypertension, Mandibular prognathia, ... |
ORPHA:401923 |
Opsismodysplasia |
|
Short nose, Splenomegaly, Abnormally ossified vertebrae, Depressed nasal bridge, Frontal bossing,... |
ORPHA:2746 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Short stature, Kyphosis, Short thumb, Camptodactyly, Clinodactyly of the 5th finger, Cerebral atr... |
OMIM:618453 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Dilated cardiomyopathy, Proximal amyotrophy, Scapuloperoneal amyotrophy, Cognitive impairment, Le... |
ORPHA:206559 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Depressed nasal bridge, Midface retrusion, Thickened calvaria, Short stature, Kyphoscoliosis, Sho... |
OMIM:616331 |
Arterial Tortuosity Syndrome |
|
Hypertension, Micrognathia, High palate, Long philtrum, Ventricular hypertrophy, Aortic regurgita... |
OMIM:208050 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Dystonia, Talipes equinovarus, Short stature, Kyphosis, Hip dislocation, Inability to walk, Waddl... |
OMIM:616756 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Dystonia, Hepatomegaly, Optic disc pallor, Mitral regurgitation, Left ven... |
OMIM:619167 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormality of blood circulation, Abnormal coronary artery morphology, Levotransposition of the g... |
ORPHA:860 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Nephrotic syndrome, Metaphyseal irregularity, Abnormal thorax morphology, Splenomeg... |
OMIM:269920 |
2P15P16.1 Microdeletion Syndrome |
|
Smooth philtrum, Hearing impairment, Camptodactyly of finger, Cerebellar hypoplasia, Low-set ears... |
ORPHA:261349 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Dystonia, Hirsutism, Dysmetria, Short nose, Hypertelorism, Microcephaly, Ataxia, Inability to wal... |
OMIM:618087 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Left anterior fascicular block, Shoulder girdle muscle atrophy, Abnormal left ventricular functio... |
ORPHA:437572 |
Fibrochondrogenesis 1 |
|
Broad ischia, Short nose, Joint contracture of the hand, Short ribs, Hypoplastic toenails, Campto... |
OMIM:228520 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Irregular epiphyses, Delayed tarsal ossification, Arthralgia of the hip, Small epiphyses, Prematu... |
OMIM:607078 |
Tatton-Brown-Rahman Syndrome |
|
Chiari malformation, Mitral regurgitation, Mandibular prognathia, Aortic root aneurysm, Kyphoscol... |
ORPHA:404443 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hirsutism, Splenomegaly, Low posterior hairline, Hypertrophic cardiomyopathy, Nephrotic syndrome,... |
OMIM:617303 |
Narcolepsy Type 1 |
|
Obesity, Transient global amnesia |
ORPHA:2073 |
Gnathodiaphyseal Dysplasia |
|
Osteomyelitis, Increased susceptibility to fractures, Diaphyseal cortical sclerosis, Osteopenia |
OMIM:166260 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Aortic regurgitation, Mitral valve prolapse, Mitral regurgitation |
OMIM:225320 |
Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Muscular dystrophy, Cardiomyopathy |
OMIM:309930 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Diaphyseal sclerosis, Wide nasal bridge, Craniofacial hyperostosis, Cortic... |
OMIM:122860 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypospadias, Short nose, Short ribs, Micropenis, Cerebellar hypoplasia, Anteverted nares, Short f... |
OMIM:616897 |
Otopalatodigital Syndrome, Type I |
|
Short 5th metacarpal, Capitate-hamate fusion, Short stature, Lateral femoral bowing, Short nose, ... |
OMIM:311300 |
Behçet Disease |
|
Retrobulbar optic neuritis, Cerebral ischemia, Splenomegaly, Optic neuritis, Gastrointestinal hem... |
ORPHA:117 |
Atrial Septal Defect, Ostium Primum Type |
|
Left atrial enlargement, Syncope, Third heart sound, Abnormally loud pulmonic component of the se... |
ORPHA:99106 |
Hunter-Macdonald Syndrome |
|
Bicuspid aortic valve, Hypertension, Conductive hearing impairment, Mitral valve prolapse, Short ... |
OMIM:611962 |
Gand Syndrome |
|
Broad nasal tip, Long fingers, Hypertelorism, Wide nasal bridge, Hyperactivity, Long toe, Sparse ... |
OMIM:615074 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Optic atrophy, Cerebellar atrophy, Wide mouth, Mitral regurgitation, Mandibular prognathia, Dysme... |
OMIM:619576 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiomegaly, Mitral regurgitation |
OMIM:618052 |
Temtamy Syndrome |
|
Micrognathia, Long philtrum, Aortic regurgitation, Aortic aneurysm, Lop ear, Low-set ears, Hypopl... |
OMIM:218340 |
Trisomy X |
|
Tall stature, Cognitive impairment, Tremor, Renal hypoplasia/aplasia, Multicystic kidney dysplasi... |
ORPHA:3375 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Decreased muscle mass, Increased mitochondrial number, Palpitations, Ventricular hypertrophy, Ven... |
ORPHA:263297 |
Ring Chromosome 8 Syndrome |
|
Hydronephrosis, Abnormality of the ureter, Short nose, Deviation of finger, Frontal bossing, Ante... |
ORPHA:1450 |
Jeune Syndrome |
|
Toe syndactyly, Cone-shaped epiphysis, Short stature, Nephronophthisis, Abnormal sternum morpholo... |
ORPHA:474 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hypospadias, Toe syndactyly, Renal hypoplasia, Chiari malformation, Depressed nasal bridge, Renal... |
ORPHA:171839 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Aortic regurgitation, Micrognathia, Cardiomyopathy |
OMIM:600721 |
Lethal Recessive Chondrodysplasia |
|
Micrognathia, Flared elbow metaphyses, Generalized osteosclerosis, Limb undergrowth, Short long b... |
ORPHA:1423 |
Alpha-Mannosidosis, Adult Form |
|
Optic disc pallor, Cerebellar atrophy, Pneumonia, Macroglossia, Aortic regurgitation, Subcortical... |
ORPHA:309288 |
Pseudoachondroplasia |
|
Genu varum, Abnormal form of the vertebral bodies, Metaphyseal irregularity, Abnormality of femor... |
ORPHA:750 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Smooth philtrum, Peripheral pulmonary artery stenosis, Aortic root aneurysm, Overfolded helix, Pa... |
OMIM:617506 |
Non-Distal Trisomy 10Q |
|
Pectus excavatum, Convex nasal ridge, Depressed nasal bridge, Short stature, Brachycephaly, Abnor... |
ORPHA:1695 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Hypospadias, Intrauterine growth retardation, Growth delay, Short stature, Deep palmar crease, To... |
ORPHA:2872 |
Intermediate Osteopetrosis |
|
Abnormality of bone mineral density, Generalized osteosclerosis, Osteosclerosis of the base of th... |
ORPHA:210110 |
Nicolaides-Baraitser Syndrome |
|
Curly eyelashes, Abnormal hair pattern, Clubbing of toes, Anteverted nares, Thick nasal alae, Spa... |
ORPHA:3051 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Vascular ring, Ventricular septal defect, Skeletal muscle atrophy, Mitral regurgitation, Knee fle... |
OMIM:603387 |
Tako-Tsubo Cardiomyopathy |
|
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... |
ORPHA:66529 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Left atrial enlargement, Left ventricular no... |
OMIM:619424 |
Myopathy, Myofibrillar, 8 |
|
Central core regions in muscle fibers, Micrognathia, High palate, Mitral regurgitation, Limb musc... |
OMIM:617258 |
Heyn-Sproul-Jackson Syndrome |
|
Intrauterine growth retardation, Short phalanx of finger, Broad phalanx, Severe short stature, 11... |
OMIM:618724 |
Myopathy, Distal, With Anterior Tibial Onset |
|
Elevated circulating creatine kinase concentration |
OMIM:606768 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Inflammatory abnormality of the skin, Ventricular septal defect, Hepatome... |
ORPHA:26793 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Gait disturbance, Short nose, Kyphosis, Thick hair, Thick eyebrow, Macrocephaly, Low posterior ha... |
ORPHA:2429 |
Sandhoff Disease |
|
Hepatomegaly, Splenomegaly, Kyphosis, Ataxia, Macrocephaly, Congestive heart failure |
ORPHA:796 |
Noonan Syndrome 10 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, High palate, Mitral valve prolapse, Mitra... |
OMIM:616564 |
Craniodigital-Intellectual Disability Syndrome |
|
Short stature, Brachycephaly, Short nose, Long eyelashes, Abnormal hair pattern, Finger syndactyl... |
ORPHA:1514 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Micropenis, Absent thumb, Hypoplasia of the... |
OMIM:612447 |
Martsolf Syndrome 1 |
|
Slender ulna, Talipes equinovarus, Short stature, Micropenis, Short toe, Short phalanx of finger,... |
OMIM:212720 |
Neonatal Marfan Syndrome |
|
Abnormal cardiac ventricle morphology, Abnormal echocardiogram, Crumpled ear, Mitral valve prolap... |
ORPHA:284979 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Truncus arteriosus, Single ventricle, Patent ductus arteriosus, Intermitte... |
ORPHA:2299 |
Paget Disease Of Bone 3 |
|
Patchy osteosclerosis, Fractures of the long bones, Osteolysis |
OMIM:167250 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Truncus arteriosus, Abnormality of the optic disc, Hearing impairment, Thi... |
ORPHA:508498 |
Loeys-Dietz Syndrome 5 |
|
Cleft palate, Smooth philtrum, Aortic root aneurysm, Overfolded helix, Ventricular septal defect,... |
OMIM:615582 |
Atelosteogenesis, Type Ii |
|
Short middle phalanx of finger, Increased intervertebral space, Short greater sciatic notch, Tali... |
OMIM:256050 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Short nose, Low hanging columella, Anteverted nares, Delayed cranial suture closure, Facial hirsu... |
OMIM:619383 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Dystonia, Abnormal anterior horn cell morphology, Rocker bottom foot, Talipes equinovarus, Hand c... |
OMIM:611890 |
Huntington Disease-Like 1 |
|
Dementia, Dysmetria, Aggressive behavior, Unsteady gait, Anxiety, Depression |
OMIM:603218 |
Mental Retardation, Autosomal Dominant 21 |
|
Cleft palate, Long philtrum, Coarctation of aorta, Low-set, posteriorly rotated ears, Thin vermil... |
OMIM:615502 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Micrognathia, Hypoplastic scapulae, Metaphyseal widening, Rhizomelia, Femoral bowing, Dumbbell-sh... |
ORPHA:440354 |
Chondrodysplasia, Blomstrand Type |
|
Micrognathia, Generalized osteosclerosis, Short ribs, Advanced ossification of carpal bones, Flar... |
OMIM:215045 |
Acrodysostosis |
|
Abnormality of the ulna, Short stature, Epiphyseal stippling, Short metatarsal, Short nose, Abnor... |
ORPHA:950 |
Distal 22Q11.2 Microdeletion Syndrome |
|
High, narrow palate, Ventricular septal defect, Cleft palate, Truncus arteriosus, Smooth philtrum... |
ORPHA:261330 |
Atelosteogenesis, Type I |
|
Distal tapering femur, Talipes equinovarus, Midface retrusion, Short metatarsal, Short nose, 11 p... |
OMIM:108720 |
Ghosal Hematodiaphyseal Dysplasia |
|
Hyperostosis cranialis interna, Myelofibrosis, Increased bone mineral density |
OMIM:231095 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Hallux valgus, Short stature, Short nose, Abnormal form of the vertebral bodies, Cubitus valgus, ... |
ORPHA:1327 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Syncope, Tricuspid stenosis, Abnormal coronary artery origin, Mitral steno... |
ORPHA:1686 |
Tetrasomy 5P |
|
Pectus excavatum, Midface retrusion, Talipes equinovarus, Long fingers, Short nose, Pulmonary art... |
ORPHA:3309 |
Joubert Syndrome 37 |
|
Hepatomegaly, Hydronephrosis, Short stature, Postaxial polydactyly, Wide nose, Prominent metopic ... |
OMIM:619185 |
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Wafer-thin platyspondyly, Short stature, Short nose, Hypoplasia of the radius, Cerebellar hypopla... |
OMIM:602613 |
Mitral Valve Prolapse 3 |
|
Mitral valve prolapse, Mitral regurgitation |
OMIM:610840 |
Mitral Valve Prolapse 2 |
|
Mitral valve prolapse, Mitral regurgitation |
OMIM:607829 |
Coccidioidomycosis |
|
Abnormality of the vertebral column, Abnormality of the spleen, Broad metatarsal, Pericarditis, P... |
ORPHA:228123 |
Distal Monosomy 10Q |
|
Short stature, Short metatarsal, Short nose, Postnatal growth retardation, Cerebellar hypoplasia,... |
ORPHA:96148 |
Mulibrey Nanism |
|
Hepatomegaly, Depressed nasal bridge, Intrauterine growth retardation, Short stature, Growth dela... |
OMIM:253250 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Plagiocephaly, Midface retrusion, Brachycephaly, Short nose, Long eyelashes, Wide nasal bridge, C... |
OMIM:618577 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Palpitations, Ventricu... |
OMIM:608758 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
High palate, Weakness of facial musculature, Internally nucleated skeletal muscle fibers, Abnorma... |
OMIM:618654 |
Shprintzen-Goldberg Syndrome |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the abdominal wall musculature, Micrognathia... |
ORPHA:2462 |
Chromosome 18Q Deletion Syndrome |
|
Cleft palate, Malar flattening, Patent ductus arteriosus, Thin upper lip vermilion, Stenosis of t... |
OMIM:601808 |
Hutchinson-Gilford Progeria Syndrome |
|
Mitral valve calcification, Mitral stenosis, Raynaud phenomenon, Delayed eruption of teeth, Trans... |
ORPHA:740 |
Rhizomelic Syndrome, Urbach Type |
|
Depressed nasal bridge, Triphalangeal thumb, Abnormality of the knee, Abnormality of the elbow, A... |
ORPHA:3098 |
Jaberi-Elahi Syndrome |
|
Dystonia, Cerebellar atrophy, Depressed nasal bridge, Sparse eyelashes, Talipes equinovarus, Hand... |
OMIM:617988 |
Verheij Syndrome |
|
Renal hypoplasia, Renal agenesis, Vertebral fusion, Hemivertebrae, Short stature, Growth delay, S... |
OMIM:615583 |
Mitochondrial Trifunctional Protein Deficiency |
|
Mitral regurgitation, Skeletal myopathy, Cardiomyopathy, Tricuspid regurgitation, Left ventricula... |
ORPHA:746 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hypertrophic cardiomyopathy, Pectus excavatum, Abnormal intervertebral disk morphology, Abnormali... |
ORPHA:2701 |
Achondrogenesis Type 1B |
|
Talipes equinovarus, Short nose, Short thorax, Severe short stature, Frontal bossing, Short foot,... |
ORPHA:93298 |
Tbck-Related Intellectual Disability Syndrome |
|
High, narrow palate, Ventricular septal defect, Eczema, Skeletal muscle atrophy, Hypothermia, Lon... |
ORPHA:488632 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Cleft palate, Dysplastic tricuspid valve, Patent ductus arteriosus, Misali... |
OMIM:265380 |
Harel-Yoon Syndrome |
|
Hypertrophic cardiomyopathy, Cerebellar atrophy, Pectus carinatum, Short nose, Frontal bossing, A... |
OMIM:617183 |
Hall-Riggs Mental Retardation Syndrome |
|
Prominent nose, Metaphyseal dysplasia, Depressed nasal bridge, Intrauterine growth retardation, I... |
OMIM:234250 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Thoracic kyphoscoliosis, Optic atrophy, Butterfly vertebrae, Dental crowding, Vertebral fusion, M... |
ORPHA:313892 |
Smith-Mccort Dysplasia 1 |
|
Genu varum, Hypoplastic acetabulae, Metaphyseal irregularity, Atlantoaxial instability, Short pha... |
OMIM:607326 |
Odontochondrodysplasia |
|
Depressed nasal bridge, Cone-shaped epiphysis, Short stature, Bowing of the long bones, Short nos... |
ORPHA:166272 |
Craniosynostosis, Herrmann-Opitz Type |
|
Convex nasal ridge, Intrauterine growth retardation, Short stature, Brachycephaly, Craniosynostos... |
ORPHA:2145 |
Hamamy Syndrome |
|
Micrognathia, Smooth philtrum, High palate, Hypodontia, Mitral regurgitation, Long philtrum, Wide... |
OMIM:611174 |
Metaphyseal Acroscyphodysplasia |
|
Genu varum, Short humerus, Short toe, Anteverted nares, Short phalanx of finger, Cone-shaped epip... |
OMIM:250215 |
Congenital Sialidosis Type 2 |
|
Telangiectasia, Optic atrophy, Hepatomegaly, Cherry red spot of the macula, Dysmetria, Abnormal h... |
ORPHA:93400 |
Monosomy 5P |
|
Intrauterine growth retardation, Short stature, Abnormality of bone mineral density, Hyperteloris... |
ORPHA:281 |
Potocki-Shaffer Syndrome |
|
Underdeveloped nasal alae, Brachycephaly, Sparse lateral eyebrow, Short nose, Wormian bones, Wide... |
OMIM:601224 |
Xp22.13P22.2 Duplication Syndrome |
|
2-3 toe syndactyly, Broad nasal tip, Pectus excavatum, Short stature, Tapered finger, Flared nost... |
ORPHA:284180 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Genu varum, Platyspondyly, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Severe short... |
OMIM:618728 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Irregular epiphyses, Small epiphyses, Micromelia, Thoracic hypoplasia, Bowing of the legs, Metaph... |
OMIM:608728 |
Brachyolmia Type 1, Toledo Type |
|
Precocious costochondral ossification, Intervertebral space narrowing, Gait disturbance, Increase... |
OMIM:271630 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Small epiphyses, Depressed nasal bridge, Proximal femoral epiphysiolysis, Short stature, Narrow p... |
OMIM:616723 |
Distal 22Q11.2 Microduplication Syndrome |
|
Smooth philtrum, Patent ductus arteriosus, Camptodactyly of finger, Low-set ears, Protruding ear,... |
ORPHA:261337 |
Bardet-Biedl Syndrome 5 |
|
Obesity, Cognitive impairment, Micropenis |
OMIM:615983 |
Parastremmatic Dwarfism |
|
Genu valgum, Severe short stature, Kyphosis, Short neck, Scoliosis |
OMIM:168400 |
Diaphanospondylodysostosis |
|
Talipes equinovarus, Short nose, Nephroblastomatosis, Vertebral segmentation defect, Depressed na... |
OMIM:608022 |
Chromosome 5P13 Duplication Syndrome |
|
Brachycephaly, Long fingers, Large hands, Craniosynostosis, Hypotelorism, Wide nasal bridge, Hype... |
OMIM:613174 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Pectus carinatum, Short stature, Kyphosis, Waddling gait, Delayed ossification of carpal bones, B... |
OMIM:618392 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity, Cognitive impairment |
OMIM:619058 |
Even-Plus Syndrome |
|
Depressed nasal ridge, Highly arched eyebrow, Renal hypoplasia, Coronal cleft vertebrae, Brachyce... |
OMIM:616854 |
Complete Atrioventricular Septal Defect |
|
Right ventricular failure, Left-to-right shunt, Third heart sound, Abnormal EKG, Lethargy, Abnorm... |
ORPHA:1329 |
Mosaic Variegated Aneuploidy Syndrome |
|
Dandy-Walker malformation, Micrognathia, Acute lymphoblastic leukemia, Abnormal aortic morphology... |
ORPHA:1052 |
Alopecia-Intellectual Disability Syndrome |
|
Growth delay, Short stature, Alopecia, Split hand, Microcephaly, Abnormal nasal morphology, Spars... |
ORPHA:2850 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Atrial fibrillation, Cerebral ischemia, Patent ductus arteriosus... |
ORPHA:1880 |
Gm1 Gangliosidosis |
|
Hirsutism, Short stature, Abnormal form of the vertebral bodies, Splenomegaly, Hepatosplenomegaly... |
ORPHA:354 |
Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Renal dysplasia, Cognitive impairment, Renal cyst, Obesity, Renal insufficiency, ... |
OMIM:615993 |
Borjeson-Forssman-Lehmann Syndrome |
|
Widely spaced toes, Thickened calvaria, Short stature, Tapered finger, Shortening of all distal p... |
OMIM:301900 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Pericardial effusion, Hypothermia, Persis... |
OMIM:618775 |
Atrial Septal Defect, Ostium Secundum Type |
|
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Transient ischemi... |
ORPHA:99103 |
Axial Spondylometaphyseal Dysplasia |
|
Abnormal ilium morphology, Upper limb undergrowth, Short stature, Short ribs, Cupped ribs, Iliac ... |
ORPHA:168549 |
Spontaneous Periodic Hypothermia |
|
Gait disturbance, Hypothermia, Ataxia, Skin rash, Arrhythmia |
ORPHA:29822 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Moderate postnatal growth retardation, Short middle phalanx of finger, Finger syndactyly, Turrice... |
ORPHA:1005 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in lower limbs, Reduced ejection fraction, Right ventricular hypertrophy... |
ORPHA:268 |
Grant Syndrome |
|
Abnormality of the glenoid fossa, Depressed nasal bridge, Large fontanelles, Brachycephaly, Short... |
ORPHA:2097 |
Miller-Dieker Syndrome |
|
Growth delay, Short nose, Ataxia, Sacral dimple, Nephropathy, Anteverted nares, Clinodactyly of t... |
ORPHA:531 |
Pde4D Haploinsufficiency Syndrome |
|
Hypospadias, Upper limb undergrowth, Short middle phalanx of finger, Short metatarsal, Short nose... |
ORPHA:439822 |
Cardiomyopathy, Dilated, 2D |
|
Dilated cardiomyopathy, Reduced ejection fraction, Mitral regurgitation, Pulmonary arterial hyper... |
OMIM:619371 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
C1-C2 subluxation, Epiphyseal stippling, Short nose, Long fibula, Short ribs, Atlantoaxial instab... |
OMIM:271665 |
Familial Thyroid Dyshormonogenesis |
|
Hypothermia, Macroglossia, Bradycardia, Sensorineural hearing impairment, Lethargy |
ORPHA:95716 |
Antisynthetase Syndrome |
|
Myocarditis, Keratoconjunctivitis sicca, Myositis, Xerostomia, Aortic regurgitation, Pulmonary ar... |
ORPHA:81 |
Gm1-Gangliosidosis, Type I |
|
Dilated cardiomyopathy, Depressed nasal ridge, Cerebral degeneration, Hepatomegaly, Hypertrichosi... |
OMIM:230500 |
Cardiomyopathy, Dilated, 1Ii |
|
Dilated cardiomyopathy, Mitral regurgitation |
OMIM:615184 |
Chromosome 16P13.3 Duplication Syndrome |
|
Pectus excavatum, Tapered finger, Long fingers, Short nose, Proximal placement of thumb, Hip disl... |
OMIM:613458 |
Chromosome 10Q26 Deletion Syndrome |
|
Short stature, Micropenis, Postnatal growth retardation, Limited elbow extension, Low posterior h... |
OMIM:609625 |
Idiopathic Congenital Hypothyroidism |
|
Macroglossia, Bradycardia, Hypothermia, Lethargy |
ORPHA:95717 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short stature, Short nose, Wide nasal bridge, Genu valgum, Short foot, Short metacarpal, Proptosi... |
OMIM:614078 |
17P13.3 Microduplication Syndrome |
|
Wide nose, Short nose, Hypertelorism, Congenital hip dislocation, Frontal bossing, Clinodactyly o... |
ORPHA:217385 |
Ring Chromosome 6 Syndrome |
|
Short stature, Hypertelorism, Wide nasal bridge, Short distal phalanx of finger, Low posterior ha... |
ORPHA:1448 |
Oculodentodigital Dysplasia |
|
Thin anteverted nares, Brittle hair, Short nose, Abnormal form of the vertebral bodies, Palmoplan... |
ORPHA:2710 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Dilated cardiomyopathy, Abnormality of the shoulder girdle musculature, Inability to walk, Thorac... |
ORPHA:206546 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Short stature, Splenomegaly, Hepatosplenomegaly, Camptodactyly of finger, Dermatan sulfate excret... |
ORPHA:217085 |
Distal Trisomy 18Q |
|
Pectus excavatum, Large hands, Short nose, Progressive intervertebral space narrowing, Prominent ... |
ORPHA:1716 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Small epiphyses, Broad nasal tip, Fragmented epiphyses, Short stature, Abnormal sternum morpholog... |
ORPHA:166016 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Short stature, Short nose, Cubitus valgus, Coarse hair, Genu recurvatum, Reduced bone mineral den... |
ORPHA:1185 |
Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Percussion myotonia, Mandibular prognathia, Increased QRS voltage, Pro... |
OMIM:619040 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Short stature, Splenomegaly, Hepatosplenomegaly, Camptodactyly of finger, Dermatan sulfate excret... |
ORPHA:217093 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 |
|
Cerebellar atrophy, Hirsutism, Short stature, Dysmetria, Global brain atrophy, Small hand, Aplasi... |
OMIM:610185 |
2Q32Q33 Microdeletion Syndrome |
|
Fine hair, Broad hallux phalanx, Convex nasal ridge, Growth delay, Talipes equinovarus, Brachycep... |
ORPHA:251019 |
Muscular Dystrophy, Duchenne Type |
|
Dilated cardiomyopathy, Cardiomyopathy, Muscular dystrophy, Waddling gait, Congestive heart failu... |
OMIM:310200 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Abnormality of the vertebral column, Mitral valve prolapse, Hip osteoarthritis, Abnormal heart mo... |
ORPHA:85438 |
Shukla-Vernon Syndrome |
|
Cerebellar atrophy, Tapered finger, Long fingers, Hypertelorism, Wide nasal base, Broad-based gai... |
OMIM:301029 |
Acromesomelic Dysplasia 1 |
|
Short nail, Short metatarsal, Thoracolumbar interpediculate narrowness, Short nose, Hypoplasia of... |
OMIM:602875 |
Warburg Micro Syndrome 3 |
|
Hypertrichosis, Low anterior hairline, Brachycephaly, Kyphoscoliosis, Short nose, Secondary micro... |
OMIM:614222 |
Congenital Enterovirus Infection |
|
Myocarditis, Leukocytosis, Neutropenia, Pericardial effusion, Hypothermia, Leukopenia, Infectious... |
ORPHA:292 |
Achondroplasia |
|
Short middle phalanx of finger, Cervical spinal canal stenosis, Limited elbow extension, Antevert... |
ORPHA:15 |
Greig Cephalopolysyndactyly Syndrome |
|
Hypospadias, Broad hallux phalanx, Hirsutism, Joint contracture of the hand, Broad hallux, Delaye... |
OMIM:175700 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Depressed nasal ridge, Intrauterine growth retardation, Abnormality of the calcaneus, Thin ribs, ... |
ORPHA:163966 |
Anauxetic Dysplasia 1 |
|
Small epiphyses, Cervical subluxation, Short finger, Rhizomelia, Hypertelorism, Platyspondyly, Fl... |
OMIM:607095 |
Weill-Marchesani Syndrome |
|
Ventricular septal defect, Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis |
ORPHA:3449 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Prominent nose, Depressed nasal bridge, Hemivertebrae, Abnormal form of the vertebral bodies, Hyp... |
ORPHA:2180 |
3M Syndrome |
|
Hypospadias, Short stature, Short thorax, Bulbous nose, Anteverted nares, Hypoplastic pelvis, Inc... |
ORPHA:2616 |
Wild Type Abeta2M Amyloidosis |
|
Bone cyst, Abnormal intervertebral disk morphology, Arthritis, Gastrointestinal hemorrhage, Conge... |
ORPHA:85446 |
Fibrochondrogenesis 2 |
|
Thoracic hypoplasia, Metaphyseal widening, Short nose, Platyspondyly, Short ribs, Hypoplastic isc... |
OMIM:614524 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Cognitive impairment, Tremor, Ataxia, Unsteady gait, Obesity |
OMIM:614947 |
X-Linked Hypophosphatemia |
|
Genu varum, Rickets, Reduced bone mineral density, Odontodysplasia, Bowing of the legs, Flared il... |
ORPHA:89936 |
Meningococcal Meningitis |
|
Shock, Infectious encephalitis, Hypothermia, Fever, Hearing impairment, Papilledema, Skin rash, H... |
ORPHA:33475 |
Mcdonough Syndrome |
|
Prominent nose, Pectus excavatum, Single transverse palmar crease, Pectus carinatum, Short statur... |
OMIM:248950 |
Velo-Facial-Skeletal Syndrome |
|
Short stature, Large hands, Hypertelorism, Wide nasal bridge, Abnormal thumb morphology, Short pa... |
ORPHA:3424 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Broad palm, Upper limb undergrowth, Metaphyseal dysplasia, Capitate-hamate fusion, Pectus carinat... |
OMIM:271650 |
Atelosteogenesis Type Ii |
|
Short lower limbs, Upper limb undergrowth, Excessive femoral anteversion, Hitchhiker thumb, Short... |
ORPHA:56304 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Osteoporosis, Kyphosis, Macrovesicular hepatic steatos... |
OMIM:618234 |
Mosaic Trisomy 14 |
|
Hypospadias, Hypertelorism, Wide nasal bridge, Prominent nasal bridge, Frontal bossing, Bilateral... |
ORPHA:1703 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Gait disturbance, Pectus excavatum, Short stature, Renal dysplasia, Short nose, Hypertelorism, Wi... |
OMIM:618571 |
Hip Dysplasia, Beukes Type |
|
Abnormality of bone mineral density, Abnormality of epiphysis morphology, Abnormality of the epip... |
ORPHA:2114 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Enlarged epiphyses, Genu varum, Metaphyseal dysplasia, Metaphyseal irregularity, Pseudoepiphyses ... |
OMIM:613330 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Cone-shaped epiphyses of the middle phalanges of the hand, Underdeveloped nasal alae, Sparse hair... |
OMIM:190351 |
Diastrophic Dysplasia |
|
Costal cartilage calcification, Irregular epiphyses, Talipes equinovarus, Short finger, Ulnar dev... |
OMIM:222600 |
Nestor-Guillermo Progeria Syndrome |
|
Left atrial enlargement, Hypertension, Micrognathia, Dental crowding, Mitral regurgitation, Pulmo... |
OMIM:614008 |
Rafiq Syndrome |
|
Underdeveloped nasolabial fold, Prominent nose, Highly arched eyebrow, Broad eyebrow, Flat occipu... |
OMIM:614202 |
Fucosidosis |
|
Hepatomegaly, Mucopolysacchariduria, Abnormality of the gallbladder, Brachycephaly, Kyphosis, Abn... |
ORPHA:349 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Cerebellar atrophy, Depressed nasal bridge, Pectus carinatum, Short stature, Short nose, Hypertel... |
OMIM:616430 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Tremor, Hyperactivit... |
ORPHA:3077 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Talipes equinovarus, Hand clenching, Congenital hip dislocation, Kyphosis, Overlapping fingers, M... |
OMIM:618291 |
Truncus Arteriosus |
|
Truncus arteriosus, Hypoplasia of the thymus, Abnormal coronary artery morphology, Patent ductus ... |
ORPHA:3384 |
Achondrogenesis Type 1A |
|
Multiple rib fractures, Short nose, Short thorax, Severe short stature, Frontal bossing, Short fo... |
ORPHA:93299 |
3C Syndrome |
|
Hypospadias, Short stature, Short nose, Finger syndactyly, Aplasia/Hypoplasia of the cerebellum, ... |
ORPHA:7 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem, Atrophy of the... |
ORPHA:99027 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Broad nasal tip, Relative macrocephaly, Midface retrusion, Short stature, Short nose, Long eyelas... |
OMIM:618529 |
Premature Aging Syndrome, Penttinen Type |
|
Narrow nose, Midface retrusion, Prominent nasal bridge, Wormian bones, Osteopenia, Thin calvarium... |
OMIM:601812 |
Achard Syndrome |
|
Arachnodactyly, Broad skull, Brachycephaly |
OMIM:100700 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Smooth philtrum, Cardiomegaly, Tricuspid regurgitation, Patent ductus ... |
OMIM:618652 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Cognitive impairment, Generalized amyotrophy, Progressive gait ataxia, Progressive cerebellar ata... |
ORPHA:1177 |
Laubry-Pezzi Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Ascending tubular aorta aneurysm, Dilatation of... |
ORPHA:99094 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Enlarged metacarpal epiphyses, Broad toe, Cupped ribs, Short long bone, Flat acetabular roof, Con... |
OMIM:609616 |
4Q21 Microdeletion Syndrome |
|
Toe syndactyly, Depressed nasal bridge, Intrauterine growth retardation, Large fontanelles, Growt... |
ORPHA:238750 |
Mental Retardation, Autosomal Recessive 61 |
|
Prominent nose, Highly arched eyebrow, Talipes equinovarus, Tapered finger, Hypertelorism, Long e... |
OMIM:617773 |
Intellectual Disability, Wolff Type |
|
Hypospadias, Large hands, Low posterior hairline, Hypertelorism, Wide nasal bridge, Bulbous nose,... |
ORPHA:3080 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Abnormal form of the vertebral bodies, Postnatal growth retardation, Anteverted nares, Clubbing o... |
ORPHA:73230 |
Spondyloepiphyseal Dysplasia Congenita |
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Abnormal foot morphology, Micrognathia, Upper limb undergrowth, Small epiphyses, Laryngotracheoma... |
ORPHA:94068 |
15Q Overgrowth Syndrome |
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Smooth philtrum, Malar flattening, Low-set ears, Microretrognathia, Abnormality of the incisor, M... |
ORPHA:314585 |
Masa Syndrome |
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Adducted thumb, Talipes equinovarus, Short stature, Shuffling gait, Kyphosis, Macrocephaly, Hyper... |
OMIM:303350 |
Osteogenesis Imperfecta |
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Progressive hearing impairment, Carious teeth, Aortic root aneurysm, Abnormal form of the vertebr... |
ORPHA:666 |
Kyphomelic Dysplasia |
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Anterior rib cupping, Lateral clavicle hook, Large hands, Bowing of the long bones, Abnormal form... |
ORPHA:1801 |
3Q13 Microdeletion Syndrome |
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Abnormality of the urinary system, Hypertelorism, Wide nasal bridge, Narrow chest, Abnormality of... |
ORPHA:1621 |
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
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Depressed nasal bridge, Short stature, Abnormal localization of kidney, Hypertelorism, Proximal p... |
ORPHA:1825 |
Trisomy 4P |
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Hypospadias, Depressed nasal bridge, Radial club hand, Low anterior hairline, Short stature, Hype... |
ORPHA:1738 |
Ruvalcaba Syndrome |
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Underdeveloped nasal alae, Narrow nose, Short stature, Short metatarsal, Small hand, Kyphosis, Sh... |
OMIM:180870 |
Xq27.3Q28 Duplication Syndrome |
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Intrauterine growth retardation, Short stature, Small hand, Short foot, Bulbous nose, Sparse body... |
ORPHA:261483 |
Cerebellar-Facial-Dental Syndrome |
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Contractures involving the joints of the feet, Macrodontia of permanent maxillary central incisor... |
ORPHA:444072 |
Roifman Syndrome |
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Short stature, Prominent eyelashes, Epiphyseal dysplasia, Hepatosplenomegaly, Postnatal growth re... |
ORPHA:353298 |
Hypophosphatasia, Childhood |
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Short stature, Bowing of the legs, Craniosynostosis, Frontal bossing, Waddling gait, Proptosis, R... |
OMIM:241510 |
Marfan Syndrome |
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Bicuspid aortic valve, Aortic root aneurysm, Malar flattening, Camptodactyly, Premature osteoarth... |
OMIM:154700 |
Hidrotic Ectodermal Dysplasia |
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Sparse eyelashes, Palmoplantar keratoderma, Sparse pubic hair, Clubbing of fingers, Sparse hair, ... |
ORPHA:189 |
Basal Ganglia Calcification, Idiopathic, 5 |
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Athetosis, Dementia, Cognitive impairment, Apathy, Anxiety, Depression |
OMIM:615483 |
Congenital Heart Defects, Multiple Types, 3 |
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Atrial fibrillation, Atrioventricular dissociation, Persistent left superior vena cava, Abnormal ... |
OMIM:614954 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
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Hirsutism, Gait imbalance, Prominent protruding coccyx, Bulbous nose, Postnatal growth retardatio... |
OMIM:300966 |
Childhood Disintegrative Disorder |
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Dementia, Motor deterioration, Social and occupational deterioration, Urinary incontinence, Menta... |
ORPHA:168782 |
Kniest Dysplasia |
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Gait disturbance, Depressed nasal bridge, Coronal cleft vertebrae, Midface retrusion, Flattened, ... |
OMIM:156550 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
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Gait disturbance, Cerebellar atrophy, Hypertrichosis, Hypertelorism, Kyphosis, Ataxia, Bilateral ... |
ORPHA:85317 |
Familial Isolated Restrictive Cardiomyopathy |
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Hypertrophic cardiomyopathy, Syncope, Left atrial enlargement, Hepatomegaly, Atrial fibrillation,... |
ORPHA:75249 |
Scheie Syndrome |
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Hepatomegaly, Wide mouth, Rhinitis, Aortic regurgitation, Splenomegaly, Sensorineural hearing imp... |
ORPHA:93474 |
Al-Raqad Syndrome |
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Short nose, Sandal gap, Deeply set eye, Microcephaly, Inability to walk, Unsteady gait, Brachydac... |
OMIM:616459 |
Alpha-Mannosidosis, Infantile Form |
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Subcortical cerebral atrophy, Hepatosplenomegaly, Pancytopenia, Abnormality of the sphenoid sinus... |
ORPHA:309282 |
Noonan Syndrome With Multiple Lentigines |
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Hypertrophic cardiomyopathy, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal endoc... |
ORPHA:500 |
Cornelia De Lange Syndrome 2 |
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Hirsutism, Short stature, Proximal placement of thumb, Postnatal growth retardation, Anteverted n... |
OMIM:300590 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
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Short metatarsal, Low hanging columella, Hypoplastic sacrum, Sparse hair, Breast hypoplasia, Hypo... |
OMIM:614813 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
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Gait disturbance, Weakness of the intrinsic hand muscles, Wrist drop, Cardiomyopathy, Heart block... |
ORPHA:98912 |
Heart Defects-Limb Shortening Syndrome |
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Abnormal form of the vertebral bodies, Abnormality of the metaphysis, Mesomelic/rhizomelic limb s... |
ORPHA:1354 |
Gaucher Disease, Type I |
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Hypertension, Hepatomegaly, Mitral regurgitation, Pulmonary arterial hypertension, Epistaxis, Ane... |
OMIM:230800 |
Greenberg Dysplasia |
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Epiphyseal stippling, Abnormal bone structure, Supernumerary vertebral ossification centers, Shor... |
OMIM:215140 |
Warburg Micro Syndrome 1 |
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Hypertrichosis, Short stature, Kyphoscoliosis, Facial hypertrichosis, Osteoporosis, Wide nasal br... |
OMIM:600118 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
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Long thorax, Intrauterine growth retardation, Short stature, Cubitus valgus, Disharmonious carpal... |
OMIM:608154 |
Buschke-Ollendorff Syndrome |
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Cutaneous finger syndactyly, Abnormality of epiphysis morphology, Generalized osteosclerosis, Hyp... |
ORPHA:1306 |
Incessant Infant Ventricular Tachycardia |
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Cardiac rhabdomyoma, Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supra... |
ORPHA:45453 |
Thanatophoric Dysplasia |
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Abnormal ilium morphology, Depressed nasal bridge, Intrauterine growth retardation, Cloverleaf sk... |
ORPHA:2655 |
Developmental And Epileptic Encephalopathy 73 |
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Short nose, Hip dysplasia, Narrow nasal bridge, Midface retrusion, Scoliosis, Microcephaly |
OMIM:618379 |
Combined Oxidative Phosphorylation Deficiency 37 |
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Hypertrophic cardiomyopathy, Optic atrophy, Cerebellar atrophy, Hypothermia, Progressive neurolog... |
OMIM:618329 |