Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Distal Myopathy With Posterior Leg And Anterior Hand Involvement |
|
Inability to walk, Intrinsic hand muscle atrophy, Cardiomyopathy, Proximal muscle weakness in low... |
ORPHA:63273 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Death in infancy, Nemaline bodies, Increased variability in muscle fiber diameter, Dysphagia, Bra... |
OMIM:620265 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart |
ORPHA:3283 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Gne Myopathy |
|
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Failure to thrive, Clavicular sclerosis |
OMIM:615198 |
Buschke-Ollendorff Syndrome |
|
Osteopoikilosis, Flexion contracture, Joint stiffness |
OMIM:166700 |
Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Myopathy... |
ORPHA:603 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Dysphag... |
OMIM:616276 |
Myopathy, Myofibrillar, 1 |
|
Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular... |
OMIM:601419 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Death in infancy, Corneal opacity, Dilated cardiomyopathy, Flexion contracture, Developmental cat... |
OMIM:618815 |
Cardiomyopathy, Familial Hypertrophic, 3 |
|
Hypertrophic cardiomyopathy, Sudden cardiac death |
OMIM:115196 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 9 |
|
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation |
OMIM:616500 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Posterior capsular cataract, Limb-girdle musc... |
ORPHA:399058 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Cataract, Centrally nucleated skeletal... |
OMIM:301075 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo... |
ORPHA:98912 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Myopathy, Myofibrillar, 3 |
|
Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclus... |
OMIM:609200 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Ankle flexion contracture, Congestive heart failure, Limb-girdle muscle weaknes... |
OMIM:608099 |
Ataxia, Deafness, And Cardiomyopathy |
|
Cardiomyopathy, Ataxia |
OMIM:208750 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Cln3 Disease |
|
Cataract, Ataxia, Bull's eye maculopathy, Aggressive behavior, Optic atrophy, Bradykinesia, Pigme... |
ORPHA:228346 |
Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Supraventricular arrhythmia, Optic atrophy, Cardiomyopathy, Difficulty walking, Leg muscle stiffn... |
ORPHA:320360 |
Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hypertrophic cardiomyopathy, Cataract |
ORPHA:79281 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... |
OMIM:619897 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... |
OMIM:616201 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Sick sinus syndrome, Bradycardia, Attention deficit hyperactivity disorder, Patent... |
OMIM:617182 |
Muscle Filaminopathy |
|
Scapular winging, Left ventricular diastolic dysfunction, Fatty replacement of skeletal muscle, A... |
ORPHA:171445 |
Cardiac Lipidosis, Familial |
|
Cardiomyopathy, Congestive heart failure, Death in infancy |
OMIM:212080 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... |
OMIM:602087 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Obesity |
OMIM:618406 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... |
OMIM:614022 |
Myopathy, Distal, 4 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... |
OMIM:614065 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cataract, Ragged-red muscle fibers, Limb muscle weakness, EMG: myopathic abnormalities, Cardiomyo... |
OMIM:609286 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
Cardiomyopathy, Familial Hypertrophic, 9 |
|
Hypertrophic cardiomyopathy |
OMIM:613765 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia |
OMIM:616277 |
Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Arthritis, Hyperostosis, Ectopic ossification in... |
ORPHA:2485 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... |
OMIM:613255 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... |
OMIM:617222 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea... |
OMIM:181350 |
Distal Myotilinopathy |
|
Multiple joint contractures, Loss of ability to walk in first decade, Cardiomyopathy, Distal amyo... |
ORPHA:98911 |
Isolated Osteopoikilosis |
|
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... |
ORPHA:166119 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Fatty replacement of skeletal muscle, Cardiomyopathy, Myopathy, Dysphagia, Supraventricular tachy... |
OMIM:255100 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Wolff-Parkinson-White syndrome, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,... |
OMIM:619566 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... |
OMIM:618782 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia, Retinal degeneration |
OMIM:617173 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... |
OMIM:602086 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Cardiomyopathy, Steppage gai... |
ORPHA:399086 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Cardiomyopathy, Agitation, Compulsive behaviors, Death in childhood |
OMIM:619651 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
Cardiomyopathy, Dilated, 1M |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:607482 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... |
ORPHA:2790 |
Cardiomyopathy, Familial Hypertrophic, 28 |
|
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en... |
OMIM:619402 |
Cardiomyopathy, Dilated, 1Ff |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:613286 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Congestive heart failure, Bradycardia, Left ventricular hypertrophy, Int... |
OMIM:619048 |
Distal Nebulin Myopathy |
|
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... |
ORPHA:399103 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... |
OMIM:136300 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Death in infancy, Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest |
OMIM:618235 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia |
OMIM:300376 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Left atrial enlargement, Facial palsy,... |
OMIM:160500 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Death in early adulthood, Right axis deviation, Elevated jugular venous pressure, Muscle fiber hy... |
OMIM:255160 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... |
OMIM:608751 |
Cardiomyopathy, Dilated, 2A |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:611880 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Keratoconus, Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, ... |
ORPHA:542306 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Intrauterine growth retardation, Hypertrophic cardiom... |
OMIM:620270 |
Combined Oxidative Phosphorylation Deficiency 44 |
|
Hypertrophic cardiomyopathy |
OMIM:618855 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles |
OMIM:609500 |
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies |
|
Sudden cardiac death, Left ventricular outflow tract obstruction, Systolic anterior motion of the... |
OMIM:620236 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy, Pigmentary retinopathy |
OMIM:609016 |
Myopathy, Myofibrillar, 2 |
|
Cataract, Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome ... |
OMIM:608810 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... |
ORPHA:3282 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Bradycardia, Muscular dystroph... |
OMIM:614302 |
Glycogen Storage Disease 0, Muscle |
|
Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla... |
OMIM:611556 |
Atrial Septal Defect 6 |
|
Atrial septal defect, Atrial fibrillation, Bradycardia |
OMIM:613087 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Waddling gait, Scapular winging, Calf muscle pseudohypertrophy, Centrally nucleated skeletal musc... |
OMIM:608358 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Cardiomyopathy... |
OMIM:612999 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, Atrioventricula... |
OMIM:212138 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG, Optic atrophy, Cardiomyopathy, Progressive gait ataxia, Progressive cerebellar atax... |
ORPHA:1177 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
Atrial Standstill 1 |
|
Ventricular escape rhythm, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree at... |
OMIM:108770 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Scapular winging, Pelvic girdle muscle atrophy, Calf muscle pseudohypertrophy, Limb-girdle muscle... |
OMIM:604286 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Death in infancy, Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fract... |
OMIM:614096 |
D-2-Hydroxyglutaric Aciduria 2 |
|
Cardiomyopathy |
OMIM:613657 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Scapular winging, Ataxia, Abnormal retinal morphology, Facial palsy, Hand muscle weakness, Ragged... |
ORPHA:254886 |
Osteochondrosis Of The Metatarsal Bone |
|
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness |
ORPHA:564003 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Retinal dystrophy, Facial palsy, Inability to walk, Flexion contracture, Developmental cataract, ... |
OMIM:613155 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, E... |
OMIM:300696 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Cardio... |
OMIM:609308 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Developmental And Epileptic Encephalopathy 35 |
|
Intrauterine growth retardation, Cataract, Death in infancy, Cardiomyopathy |
OMIM:616647 |
Cardiomyopathy, Dilated, 1L |
|
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... |
OMIM:606685 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Cardiomyopathy, Distal amyotrophy, Steppage gait |
OMIM:610100 |
Maternally-Inherited Diabetes And Deafness |
|
Cataract, Abnormal chorioretinal morphology, Ataxia, Congestive heart failure, Hypertension, Arrh... |
ORPHA:225 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... |
OMIM:115210 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis |
OMIM:607634 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death, Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex co... |
OMIM:611369 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Death in infancy, Hypertrophic cardiomyopathy |
OMIM:615395 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:3152 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Skeletal muscle atrophy, Abnormal atrioventricular conduction, Cardiomyopathy, Pigmentary retinop... |
ORPHA:329336 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio... |
OMIM:611705 |
Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... |
ORPHA:566943 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ... |
ORPHA:45453 |
Adult-Onset Nemaline Myopathy |
|
Dilated cardiomyopathy, Flexion contracture, Increased muscle lipid content, Neuromuscular dyspha... |
ORPHA:171442 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... |
OMIM:616812 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Optic atrophy, Bradycardia, Intrauterine growth retardation, ... |
OMIM:614702 |
Congenital Myopathy 24 |
|
Waddling gait, Scapular winging, Facial palsy, First degree atrioventricular block, Cardiomyopath... |
OMIM:617336 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Thenar muscle atrophy, Dilated cardiomyopathy, Dysmetria, Dysdiadochokinesis, Distal lower limb m... |
OMIM:619903 |
Childhood-Onset Nemaline Myopathy |
|
Waddling gait, Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized... |
ORPHA:171439 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy... |
OMIM:608807 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Intrauterine growth retardation, Decreased level of coenzyme Q10 in... |
OMIM:614654 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Hypoglycosylation of alpha-dystroglycan, Cataract, Limb-girdle muscle weakness, Cardiomyopathy, M... |
OMIM:615352 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Ataxia, Bradykinesia, Death in childhood, Lethargy, Hypertrophic cardiomyopathy |
OMIM:618683 |
Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Gait disturbance |
ORPHA:34587 |
Cardiomyopathy, Dilated, 1Dd |
|
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... |
OMIM:613172 |
Cardiomyopathy, Dilated, 1W |
|
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... |
OMIM:611407 |
Cardiomyopathy, Dilated, 1Cc |
|
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... |
OMIM:613122 |
Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... |
ORPHA:168796 |
Cardiomyopathy, Dilated, 1Kk |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... |
OMIM:615248 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Neonatal death, Inability to walk, Hypertrophic cardiomyopathy, Death in infancy |
OMIM:617184 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Waddling gait, Reduced muscle fiber alpha dystroglycan, Dilated cardiomyopathy, Calf muscle hyper... |
ORPHA:34515 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Flexion contracture, Optic atrophy, Myopathy, Neonatal death, Intrauterine growth retardation, Hy... |
OMIM:618237 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Inability ... |
ORPHA:206559 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetric septal ... |
OMIM:608758 |
Cardiomyopathy, Dilated, 1J |
|
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... |
OMIM:605362 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Waddling gait, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Increased... |
ORPHA:86812 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... |
OMIM:115200 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele... |
ORPHA:263297 |
Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Dysphagia, Cardiomyopathy, Facial dip... |
ORPHA:171433 |
Cardiomyopathy, Familial Hypertrophic, 7 |
|
Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio... |
OMIM:613690 |
Cardiomyopathy, Dilated, 1X |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Calf muscle hypertrophy,... |
OMIM:611615 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ... |
OMIM:302045 |
Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome |
OMIM:607487 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... |
OMIM:615745 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal... |
OMIM:612124 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Waddling gait, Unsteady gait, Dilated cardiomyopathy, Myopathy, Limb-girdle muscular dystrophy, I... |
OMIM:612937 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Ventric... |
OMIM:601005 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Cataract, Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hyperten... |
ORPHA:1345 |
Cardiomyopathy, Dilated, 1Ee |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... |
OMIM:613252 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Cataract, Optic atrophy, Concentric hypertrophic cardiomyopathy, Macular degeneration, Loss of am... |
OMIM:204200 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Congestive heart failure, Inability to walk, Dilated cardiomyopathy, Elbow flexion contracture, Q... |
ORPHA:206546 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
Cardiomyopathy, Dilated, 2C |
|
Death in infancy, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Death in ch... |
OMIM:618189 |
Loeffler Endocarditis |
|
Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit... |
ORPHA:75566 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Optic atrophy, Myopathy, Cardiomyopathy, Intrauterine growth retardation, Lethargy |
ORPHA:26792 |
Aminoacylase 1 Deficiency |
|
Hyperactivity, Bradycardia |
OMIM:609924 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cataract, Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST... |
OMIM:261740 |
Cardiomyopathy, Dilated, 1Gg |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... |
OMIM:613642 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Death in infancy, Congestive heart failure, Death in childhood, Intrauterine growth retardation, ... |
OMIM:615440 |
Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Myopathy, Asymmetric septal hypertrophy |
OMIM:212130 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... |
OMIM:144750 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Myopathy, Hypertrophic cardiomyopathy, Cataract, Corneal dystrophy |
ORPHA:1369 |
Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
Refsum Disease, Classic |
|
Cataract, Ataxia, Cardiomegaly, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, A... |
OMIM:266500 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... |
OMIM:614676 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Muscular Dystrophy, Cardiac Type |
|
Cardiomyopathy, Abnormal EKG, Muscular dystrophy |
OMIM:309930 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial fibrillation, Reduced left vent... |
OMIM:613876 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
Cardiomyopathy, Dilated, 1Jj |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy |
OMIM:615235 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy |
OMIM:192600 |
Congenital Myopathy 22A, Classic |
|
Waddling gait, Hip contracture, Scapular winging, Tricuspid regurgitation, Centrally nucleated sk... |
OMIM:620351 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hypoglycosylation of alpha-dystroglycan, Cataract, Camptodactyly of finger, Dilated cardiomyopath... |
ORPHA:272 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Congestive heart failure, Dilated cardiomyopathy, Arrhythmia, Intrauterine growth retardation, Hy... |
OMIM:616198 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ataxia, Dilated cardiomyopathy, Optic atrophy, Flexion contracture, Ragged-red muscle fibers, Pig... |
OMIM:252011 |
Cardiomyopathy, Dilated, 1Z |
|
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death |
OMIM:611879 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... |
ORPHA:66529 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Cardiomyopathy, Limb muscle weakness, Nemaline bodies, Global systolic dysfunction |
OMIM:606842 |
Stuve-Wiedemann Syndrome 2 |
|
Congestive heart failure, Dysphagia, Death in adolescence, Pulmonary arterial hypertension, Still... |
OMIM:619751 |
Osteopetrosis, Autosomal Recessive 9 |
|
Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis |
OMIM:620366 |
Diabetes And Deafness, Maternally Inherited |
|
Cardiomyopathy, Unsteady gait, Pigmentary retinopathy, Retinal degeneration |
OMIM:520000 |
Cardiomyopathy, Dilated, 1Hh |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy |
OMIM:613881 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Ventricular septal defect, Ataxia, Situs inversus totalis, Optic atrophy... |
OMIM:249270 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... |
OMIM:613874 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Death in infancy, Flexion contracture, Cardiomyopathy, Intrauterine growth retardation, Joint con... |
OMIM:608540 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Acitretin/Etretinate Embryopathy |
|
Abnormal retinal morphology, Antecubital pterygium, Conotruncal defect, Third degree atrioventric... |
ORPHA:40366 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... |
ORPHA:210110 |
Idiopathic Congenital Hypothyroidism |
|
Macroglossia, Umbilical hernia, Bradycardia, Lethargy |
ORPHA:95717 |
Sensorineural Deafness With Dilated Cardiomyopathy |
|
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy |
ORPHA:217622 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Waddling gait, Broad-based gait, Cardiomyopathy, Myopathy, Calf muscle hypertrophy, Difficulty wa... |
ORPHA:119 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia, Death in infancy |
OMIM:616299 |
Proximal Myopathy With Extrapyramidal Signs |
|
Ataxia, Centrally nucleated skeletal muscle fibers, Optic atrophy, Cardiomyopathy, Difficulty wal... |
ORPHA:401768 |
Neutral Lipid Storage Disease With Myopathy |
|
Cardiomyopathy, Increased muscle lipid content, Myopathy, Difficulty walking |
OMIM:610717 |
Muscular Dystrophy, Duchenne Type |
|
Waddling gait, Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles te... |
OMIM:310200 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Cardiomyopathy |
OMIM:619647 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Death in infancy, Left atrial enlargement, Left ventricular noncompaction cardiomyopathy, Facial ... |
OMIM:619424 |
Hsd10 Mitochondrial Disease |
|
Restlessness, Aggressive behavior, Optic atrophy, Choreoathetosis, Agitation, Hypertrophic cardio... |
OMIM:300438 |
Myopathy, Myofibrillar, 4 |
|
Autophagic vacuoles, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle ... |
OMIM:609452 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Biventricular hyper... |
OMIM:613243 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Diaphragmatic eventration, Ataxia, Sudden ca... |
OMIM:610198 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... |
ORPHA:85451 |
Lethal Congenital Contracture Syndrome 8 |
|
Death in infancy, Oral-pharyngeal dysphagia, Flexion contracture, Facial diplegia, Distal amyotro... |
OMIM:616287 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Dysphagia, Facial palsy, Ragged-red muscle fibers, Optic atrophy, Increa... |
OMIM:258450 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu... |
ORPHA:59135 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... |
ORPHA:330001 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Papilledema, Ventricular septal defect, Pericardial effusion, Brady... |
OMIM:618775 |
Proximal Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Multiple joint contractures, Inability to walk, Quadriceps muscle weakne... |
ORPHA:70 |
Desminopathy |
|
Supraventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Atrioventricular blo... |
ORPHA:98909 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... |
OMIM:613873 |
Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Cataract, Dilated cardiomyopathy, Ventricular ta... |
OMIM:615184 |
Sarcosinemia |
|
Peroneal muscle weakness, Ataxia, Optic atrophy, Pulmonic stenosis, Hypertrophic cardiomyopathy |
ORPHA:3129 |
Danon Disease |
|
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Neonatal death, Intrauterine growth retardation, Congestive heart failure |
OMIM:301021 |
Hemochromatosis, Type 2A |
|
Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Lethargy, Arrhythmia |
OMIM:602390 |
Microcephaly-Cardiomyopathy Syndrome |
|
Intrauterine growth retardation, Dilated cardiomyopathy, Ventricular septal defect, Abnormality o... |
ORPHA:2515 |
Cardiomyopathy, Dilated, 1Bb |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:612877 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... |
OMIM:614954 |
Emery-Dreifuss Muscular Dystrophy |
|
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... |
ORPHA:98853 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Death in infancy, Optic atrophy, Bradycardia, Joint contracture, Limb hypertonia |
OMIM:614498 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Dilated cardiomyopathy, Flexion contracture, Increased variability in muscle fiber diameter, Musc... |
OMIM:300718 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Intrauterine growth retardation, Pulmonary arterial hypertension, Cardiomyopathy |
OMIM:619003 |
Amyloidosis, Finnish Type |
|
Cardiac amyloidosis, Cardiomyopathy, Lattice corneal dystrophy |
OMIM:105120 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Attrv30M Amyloidosis |
|
Vitreous floaters, Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia |
ORPHA:85447 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Retinal detachment, Cataract, Calf muscle pseudohypertrophy, Optic nerve... |
ORPHA:370959 |
Glutamine Deficiency, Congenital |
|
Neonatal death, Flexion contracture, Bradycardia, Camptodactyly |
OMIM:610015 |
Infantile Refsum Disease |
|
Cataract, Ataxia, Facial palsy, Optic atrophy, Cardiomyopathy, Arrhythmia, Rod-cone dystrophy |
ORPHA:772 |
Myopathy, Myofibrillar, 6 |
|
Scapular winging, Facial palsy, Myofibrillar myopathy, Knee flexion contracture, EMG: myopathic a... |
OMIM:612954 |
Lethal Infantile Mitochondrial Myopathy |
|
Cardiomyopathy, Lethargy |
ORPHA:254857 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Myopathy, Pigmentary retinopathy, Hyper... |
OMIM:618234 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Cardiomyopathy, Hypertrophic cardiomyopathy, Retinopathy |
OMIM:615119 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Biventricular hypertrophy, Myopathy, Hypertrophic cardiomyopathy, Optic atrophy |
OMIM:618236 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Transient ischemic attack, Cardiac arrest, First degree atrioventricular... |
OMIM:115197 |
Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Ataxia, Abnormal atrioventricular conducti... |
ORPHA:3208 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Joint contracture of the 5th finger, Bradycardia, Atrioventricular block, Truncal ataxia |
OMIM:614407 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Tachycardia, Syncope, Agitation, Palpitations, Lethargy, Hypertrophic cardiomyopathy, Polyphagia |
ORPHA:276556 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... |
ORPHA:98863 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Right ventricular dilatation, Abnor... |
ORPHA:2041 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... |
ORPHA:98855 |
Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna |
OMIM:231095 |
Cyclic Vomiting Syndrome |
|
Ataxia, Anorexia, Cardiomyopathy, Attention deficit hyperactivity disorder, Lethargy |
OMIM:500007 |
Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
Mitochondrial Complex I Deficiency, Nuclear Type 7 |
|
Death in infancy, Hypertrophic cardiomyopathy, Optic atrophy |
OMIM:618229 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Ragged-red muscle fibers, Generalized amyotrophy, Dysphagia, Lethargy, Hypertrophic cardiomyopathy |
OMIM:613561 |
Duchenne Muscular Dystrophy |
|
Waddling gait, Skeletal muscle atrophy, Flexion contracture, Cardiomyopathy, Calf muscle hypertrophy |
ORPHA:98896 |
Cardiomyopathy, Dilated, 1K |
|
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm |
OMIM:605582 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Skeletal muscle atrophy, Reduced systolic function, Dilated cardiomyopathy, Macroglossia, Calf mu... |
OMIM:616827 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Optic disc pallor, Skeletal muscle atrophy, Ataxia, Optic atrophy, Left ventricular hypertrophy, ... |
OMIM:618228 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Cataract, Left ventricular noncompaction, Increased intramyocellular lipid droplets, Increased va... |
OMIM:617228 |
Hec Syndrome |
|
Abnormal retinal vascular morphology, Abnormal pupil morphology, Developmental cataract, Cardiomy... |
ORPHA:2119 |
Triose Phosphate-Isomerase Deficiency |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy |
ORPHA:868 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Ataxia, Limb-girdle muscle weakness, Optic atrophy, Cardiomyopathy, Abnormal retinal nerve fiber ... |
ORPHA:1215 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Skeletal muscle atrophy, Ataxia, Severe temper tantrums, Aggressive behavior, Optic atrophy, Dysm... |
OMIM:617710 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of retinal pigmentation, Skeletal muscle atrophy, Ataxia, Dysmetria, Dysdiadochokines... |
ORPHA:96 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
Endocardial Fibroelastosis |
|
Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis |
ORPHA:2022 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Death in infancy, Tricuspid regurgitation, Muscular vent... |
OMIM:619371 |
Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... |
OMIM:617912 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Tachycardia, Syncope, Agitation, Palpitations, Lethargy, Hypertrophic cardiomyopathy, Polyphagia |
ORPHA:276575 |
Cardiomyopathy, Familial Hypertrophic, 2 |
|
Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ... |
OMIM:115195 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Co... |
ORPHA:2334 |
Carvajal Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy |
ORPHA:65282 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Cardiomyopathy, Dilated, 2B |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Atr... |
OMIM:614672 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Tachycardia, Syncope, Agitation, Palpitations, Lethargy, Hypertrophic cardiomyopathy, Polyphagia |
ORPHA:276580 |
3-Methylglutaconic Aciduria Type 4 |
|
Cardiomyopathy, Cataract, Iris hypopigmentation |
ORPHA:67048 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta... |
ORPHA:329478 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... |
ORPHA:563 |
Harel-Yoon Syndrome |
|
Corneal opacity, Ataxia, Inability to walk, Optic atrophy, Developmental cataract, Distal amyotro... |
OMIM:617183 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... |
OMIM:617047 |
Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Bradycardia, Lethargy |
OMIM:617397 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Ventricular septal defect, Flexion contracture, Retinal hemorrhage, Corneal scarring... |
OMIM:614653 |
Osteopetrosis, Autosomal Recessive 4 |
|
Osteopetrosis, Increased bone mineral density, Recurrent fractures |
OMIM:611490 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Inability to walk, Optic atrophy, Athetosis, Gait disturbance, Loss of ambulation, Hypertrophic c... |
OMIM:618241 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... |
OMIM:115000 |
Naxos Disease |
|
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... |
ORPHA:34217 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Ataxia, Congestive heart failure, Dilated cardiomyopathy, Ragged-red muscle fibers, Hypertension,... |
ORPHA:1349 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
Mitochondrial Complex I Deficiency, Nuclear Type 22 |
|
Intrauterine growth retardation, Hypertrophic cardiomyopathy |
OMIM:618243 |
Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect, Rod-cone dystrophy, Retinal ... |
OMIM:615981 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Low-output congestive heart failure, Hypertrophic cardiomyopathy, Myopathy |
ORPHA:91130 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Cataract, Achilles tendon contracture, Ragged-red muscle fibers, Heart m... |
OMIM:615418 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Cardiomyopathy, Arrhythmia, Hypertension, Ataxia |
ORPHA:3222 |
Necrotizing Enterocolitis |
|
Shock, Abnormal heart morphology, Bradycardia, Hypotension, Lethargy |
ORPHA:391673 |
Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
Sengers Syndrome |
|
Cataract, Cardiac arrest, Sudden cardiac death, Developmental cataract, Myopathy, Pulmonary arter... |
OMIM:212350 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Cardiomyopathy, Increased variability in muscle fiber diameter |
OMIM:613752 |
Takayasu Arteritis |
|
Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Anorexia... |
ORPHA:3287 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... |
OMIM:620203 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Lethargy, Hypertrophic cardiomyopathy, Ataxia, Death in childhood |
OMIM:246900 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Developmental cataract, Coloboma, Retinal dysplasia, Ocular anterior seg... |
ORPHA:324416 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Optic disc pallor, Congenital foot contractures, Tip-toe gait, Bradycardia, Loss of ambulation, I... |
ORPHA:565624 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Retinal thinning, Macular atrophy, Peripheral retinal atrophy, Retinal pigment epithelial mottlin... |
OMIM:145350 |
Familial Thyroid Dyshormonogenesis |
|
Macroglossia, Umbilical hernia, Bradycardia, Lethargy |
ORPHA:95716 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Cataract, Fatty replacement of skeletal muscle, Congestive heart failure, Cardiomy... |
ORPHA:52430 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... |
ORPHA:439232 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Waddling gait, Left atrial enlargement, Cardiomegaly, Skeletal muscle hy... |
OMIM:300280 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... |
ORPHA:101016 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Limb joint contracture, Bradycardia |
OMIM:619814 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microcornea, Coloboma |
OMIM:251505 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Tachycardia, Atrial fibrillation, Centrally nucleated skeletal muscle fibe... |
OMIM:613327 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Death in infancy, Tricuspid regurgitation, Pulmonic stenosis, Restrictive cardiomyopathy, Pulmona... |
OMIM:619433 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Spinal muscular atrophy, Secundum atrial septal defect, Congestive heart failure, Patent ductus a... |
OMIM:616866 |
Peroxisome Biogenesis Disorder 9B |
|
Cardiomyopathy, Cataract, Ataxia, Rod-cone dystrophy |
OMIM:614879 |
Familial Dyskinesia And Facial Myokymia |
|
Congestive heart failure, Dilated cardiomyopathy, Difficulty walking, Facial myokymia, Limb hyper... |
ORPHA:324588 |
Carnitine Deficiency, Systemic Primary |
|
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Myopathy, Reduced m... |
OMIM:212140 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:619747 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Skeletal muscle atrophy, Cataract, Ataxia, Pericardial effusion, Opto-chiasmatic atrophy, Optic a... |
OMIM:620089 |
Barth Syndrome |
|
Dilated cardiomyopathy, Endocardial fibroelastosis |
ORPHA:111 |
Glycogen Storage Disease Iii |
|
Ventricular hypertrophy, Cardiomyopathy, Distal amyotrophy, Myopathy |
OMIM:232400 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Propionic Acidemia |
|
Cardiomyopathy, Arrhythmia |
ORPHA:35 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Cataract, Corneal opacity, Coloboma, Muscular dystrophy, Death in childhood, ... |
OMIM:613153 |
Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
Nemaline Myopathy 10 |
|
Skeletal muscle atrophy, Death in infancy, Facial palsy, Fatty replacement of skeletal muscle, Fl... |
OMIM:616165 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Ataxia, Cardiomegaly, Congestive heart failure, Unsteady gait, Optic atrophy, Limb ataxia, Gait a... |
OMIM:619259 |
Polymyositis |
|
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... |
ORPHA:732 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anorexia, Optic atrophy, Choreoathetosis, Cardiomyopathy, Lethargy |
ORPHA:79312 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
Hemochromatosis, Type 4 |
|
Cardiomyopathy, Arrhythmia, Cataract |
OMIM:606069 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Optic disc pallor, Tricuspid regurgitation, Left ventricular systolic dysfunction, Ataxia, Dilate... |
OMIM:619167 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... |
OMIM:609040 |
Osteopetrosis, Autosomal Recessive 1 |
|
Increased bone mineral density, Osteomyelitis, Craniosynostosis, Osteopetrosis, Pathologic fractu... |
OMIM:259700 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Coloboma, Hyperactivity, Optic atrophy, Lethargy |
OMIM:274270 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Optic disc pallor, Death in infancy, Cataract, Ventricular septal defect, Neonatal death |
OMIM:613730 |
Schnitzler Syndrome |
|
Arthritis, Increased bone mineral density |
ORPHA:37748 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3 |
|
Hypertrophic cardiomyopathy |
OMIM:614053 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Tachycardia, Ventricular septal defect, Abnormal pulmona... |
ORPHA:860 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... |
OMIM:618920 |
Prune1-Related Neurological Syndrome |
|
Cataract, Inability to walk, Optic atrophy, Hypertrophic cardiomyopathy, Retinopathy |
ORPHA:544469 |
Chondrodysplasia, Blomstrand Type |
|
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification |
OMIM:215045 |
Tetanus |
|
Hypertension, Tachycardia, Bradycardia, Dysphagia |
ORPHA:3299 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Ataxia |
OMIM:615917 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... |
ORPHA:90650 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Death in infancy, Abnormal pulmonary valve morphology, Camptodactyly of finger, Congestive heart ... |
ORPHA:1194 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Optic disc pallor, Hypertrophic cardiomyopathy, Optic atrophy |
OMIM:612989 |
Congenital Disorder Of Glycosylation, Type Im |
|
Death in infancy, Dilated cardiomyopathy, Bradycardia |
OMIM:610768 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Lethargy, Hypertrophic cardiomyopathy, Anorexia, Death in infancy |
OMIM:619386 |
Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ... |
OMIM:614856 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Fetal Parvovirus Syndrome |
|
Intrauterine growth retardation, Hypertrophic cardiomyopathy |
ORPHA:295 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Choroidal neovascularization, Congestive heart fail... |
OMIM:264800 |
Bohring-Opitz Syndrome |
|
Retinal atrophy, Facial hypotonia, Cardiomegaly, Inability to walk, Optic atrophy, Bilateral wris... |
ORPHA:97297 |
Hurler-Scheie Syndrome |
|
Abnormal heart valve morphology, Cardiomyopathy, Corneal opacity |
ORPHA:93476 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Cardiomyopathy, Mitral regurgi... |
ORPHA:746 |
Isolated Atp Synthase Deficiency |
|
Cataract, Ataxia, Dilated cardiomyopathy, Optic atrophy, Arrhythmia, Lethargy, Hypertrophic cardi... |
ORPHA:254913 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Ataxia, Inability to walk, Congestive heart failure, Abnormal heart morphology, Dysphagia, Hypert... |
ORPHA:70472 |
D-Glyceric Aciduria |
|
Optic nerve hypoplasia, Patent ductus arteriosus, Tongue thrusting, Bradycardia |
OMIM:220120 |
Illum Syndrome |
|
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia |
OMIM:208155 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
Hsd10 Disease, Neonatal Type |
|
Hypertrophic cardiomyopathy |
ORPHA:391457 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Optic disc pallor, Hypertrophic cardiomyopathy, Cataract |
ORPHA:3173 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Retinal degeneration |
OMIM:616896 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cataract, Corneal opacity, Optic nerve hypoplasia, Optic atrophy, Gait ataxia, Hypertrophic cardi... |
ORPHA:496790 |
Neuraminidase Deficiency |
|
Skeletal muscle atrophy, Cataract, Cardiomegaly, Dysmetria, Cardiomyopathy, Cherry red spot of th... |
OMIM:256550 |
Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure |
ORPHA:53296 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... |
OMIM:612422 |
Hypereosinophilic Syndrome, Idiopathic |
|
Restrictive cardiomyopathy, Endocardial fibrosis |
OMIM:607685 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Cardiomyopathy, Agitation, Ataxia, Death in infancy |
OMIM:619046 |
Pontocerebellar Hypoplasia, Type 11 |
|
Skeletal muscle atrophy, Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Coloboma, Self... |
OMIM:617695 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Skeletal muscle atrophy, Sudden cardiac death, Arrhythmia, Lethargy, Hypertrophic cardiomyopathy |
ORPHA:156 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Flexion contracture, Mitral regurgitation, Camptodactyly, Restrictive cardiomyopathy, Patent fora... |
ORPHA:88630 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Macroglossia, Umbilical hernia, Bradycardia |
ORPHA:226313 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Limb ataxia, Pulmonary arterial h... |
OMIM:619051 |
Refsum Disease |
|
Abnormality of retinal pigmentation, Skeletal muscle atrophy, Cataract, Ataxia, Heart block, Card... |
ORPHA:773 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Colob... |
OMIM:618652 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Death in infancy, Bull's eye maculopathy, Left ventricular noncompaction cardiomyopathy, Cardiac ... |
OMIM:620167 |
Kearns-Sayre Syndrome |
|
Ataxia, Ragged-red muscle fibers, Cardiomyopathy, Pigmentary retinopathy, Third degree atrioventr... |
OMIM:530000 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Hypoplastic left atrium, Ventricular septal defect, Congenital diaphragmatic hernia |
OMIM:615524 |
Spondyloepiphyseal Dysplasia Tarda |
|
Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os... |
ORPHA:93284 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Cardiomyopathy, Myopathy, Stillbirth, Death in childhood, Neonatal death, Lethargy |
OMIM:614922 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Intrauterine growth... |
OMIM:620135 |
Familial Isolated Restrictive Cardiomyopathy |
|
Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, Supraventricular arrhythmi... |
ORPHA:75249 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Ataxia, Sutural cataract, Weakness of facial musculature, Flexion contracture, Cardiomyopathy, My... |
OMIM:201470 |
Hsd10 Disease, Infantile Type |
|
Restlessness, Cardiomegaly, Optic atrophy, Choreoathetosis, Dysphagia, Loss of ambulation, Hypert... |
ORPHA:391428 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Osteopetrosis, Decreased body weight |
OMIM:617306 |
Wolfram Syndrome 1 |
|
Cataract, Ataxia, Optic atrophy, Cardiomyopathy, Pigmentary retinopathy, Dysphagia |
OMIM:222300 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Waddling gait, Achilles tendon contracture, Dilated cardiomyopathy, Abnormal left ventricular fun... |
OMIM:607155 |
Majeed Syndrome |
|
Increased bone mineral density, Osteomyelitis, Cachexia, Flexion contracture, Synovitis, Weight l... |
ORPHA:77297 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Skeletal muscle atrophy, Tachycardia, Glycogen accumulation in muscle fiber lysosomes, Rhabdomyol... |
ORPHA:368 |
Collagenoma, Familial Cutaneous |
|
Iris atrophy, Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Con... |
OMIM:115250 |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Takotsubo cardiomyopathy |
ORPHA:363549 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Death in infancy, Cardiac arrest, Myofiber disarray, Increased variability in muscle fiber diamet... |
OMIM:604377 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Patent ductus arteriosus, Ventricular septal defect, Sinus bradycardia |
OMIM:126320 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular... |
OMIM:616501 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Bradycardia, Skeletal muscle atrophy |
OMIM:619272 |
Gm1 Gangliosidosis |
|
Ventricular septal defect, Corneal opacity, Ataxia, Camptodactyly of finger, Abnormal retinal vas... |
ORPHA:354 |
Diastrophic Dysplasia |
|
Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness |
ORPHA:628 |
Albers-Schönberg Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... |
ORPHA:53 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Ataxia, Optic atrophy, Choreoathetosis, Cardiomyopathy, Lethargy |
ORPHA:27 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Interphala... |
OMIM:613870 |
Cardiomyopathy, Dilated, 2E |
|
Death in infancy, Reduced systolic function, Dilated cardiomyopathy, Ebstein anomaly of the tricu... |
OMIM:619492 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... |
ORPHA:85188 |
Neurofibromatosis-Noonan Syndrome |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis, Dysphagia |
ORPHA:638 |
Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Ventricular septal defect, Akinesia, Dilated cardiomyopathy, Degenerativ... |
OMIM:607598 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Cardiomyopathy, Abnormal cardiac ventricular function, Ataxia, Lethargy |
ORPHA:2394 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Generalized limb muscle atrophy, Cardiomyopathy, Facial diplegia, Steppage gait, Lower limb muscl... |
ORPHA:521411 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Waddling gait, Facial palsy, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, Increased endo... |
OMIM:602541 |
Abruzzo-Erickson Syndrome |
|
Microcornea, Coloboma, Chorioretinal coloboma, Atrial septal defect, Iris coloboma |
ORPHA:921 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Coarse metaphysea... |
ORPHA:1782 |
Hemochromatosis, Type 2B |
|
Cardiomyopathy, Congestive heart failure |
OMIM:613313 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Aggressive behavior, Secundum atrial septal defect, Scissor gait, Dysmetria, Facial diplegia, Att... |
OMIM:619121 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopathy, Astigmatism, Left ventricular hypertrophy... |
OMIM:617713 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ataxia, Cardiac arrest, Acute rhabdomyolysis, Oral-pharyngeal dysphagia, Rhabdomyolysis, Ventricu... |
OMIM:616878 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Delayed patellar ossification, Increased bone mineral density, Abnormal bone ossification |
ORPHA:163649 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Cardiomyopathy, Flexion contracture, Myopathy, Nemaline bodies |
OMIM:616549 |
Osteopetrosis, Autosomal Recessive 8 |
|
Failure to thrive, Osteopetrosis |
OMIM:615085 |
Friedreich Ataxia |
|
Hand muscle atrophy, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, Limb ataxia, Cardi... |
ORPHA:95 |
Osteopetrosis, Autosomal Recessive 2 |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc... |
OMIM:259710 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Neonatal death, Intrauterine growth retardation, Death in infancy, Cardiomyopathy |
OMIM:618839 |
Glossopharyngeal Neuralgia |
|
Syncope, Jaw claudication, Bradycardia, Oral-pharyngeal dysphagia |
ORPHA:221098 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Anorexia, Abnormal left ventricular function, Conjunctivitis, Internal hemor... |
ORPHA:99827 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Exercise-induced rhabdomyolysis, Death in infancy, Sudden cardiac death, Cardiomegaly, Reduced le... |
OMIM:201475 |
Vici Syndrome |
|
Abnormality of retinal pigmentation, Death in infancy, Cataract, Optic atrophy, Cardiomyopathy, A... |
ORPHA:1493 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:226735 |
Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Akinesia, Death in childhood, Neonatal death, Increased variability in muscle f... |
OMIM:619334 |
Noonan Syndrome 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:618499 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy |
OMIM:618378 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Osteoporosis, Failure... |
OMIM:239000 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Death in infancy, Ataxia, Dilated cardiomyopathy, Optic atrophy, Lethargy, Hypertrophic cardiomyo... |
OMIM:614299 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Lethargy, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly |
OMIM:600649 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology |
OMIM:601612 |
Mcleod Syndrome |
|
Atrial fibrillation, Rhabdomyolysis, Dilated cardiomyopathy, Cardiomyopathy, Myopathy, Compulsive... |
OMIM:300842 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Broad-based gait, Tricuspid regurgitation, Right ventricular dila... |
OMIM:619705 |
Encephalitis Lethargica |
|
Upper limb muscle weakness, Lethargy, Bradycardia |
ORPHA:83600 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Telangiectasia of the skin, Optic atrophy, Telangiectasia, Generalized amyotrophy, Hypertrophic c... |
ORPHA:79279 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Angina pectoris, Increased muscle lipid content, Abnormality of the calf musculature, Low-output ... |
ORPHA:565612 |
Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Cataract, Patent ductus arteriosus, Bradycardia, Dysphagia, Neonatal death |
OMIM:617248 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Lujo Hemorrhagic Fever |
|
Shock, Myocarditis, Subconjunctival hemorrhage, Bradycardia, Hypotension, Dysphagia |
ORPHA:319213 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Death in infancy, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral re... |
OMIM:620300 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Dysmetria, Gait ataxia, Progressive gait ataxi... |
OMIM:607459 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... |
ORPHA:1686 |
Barth Syndrome |
|
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... |
OMIM:302060 |
Mucopolysaccharidosis Type 2 |
|
Abnormal tricuspid valve morphology, Abnormal repetitive mannerisms, Oppositional defiant disorde... |
ORPHA:580 |
Fanconi Anemia, Complementation Group O |
|
Death in infancy, Miscarriage, Abnormal heart morphology, Small thenar eminence, Neonatal death |
OMIM:613390 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Flexion contracture, Sinus bradycardia, Congenital contracture, Death in childhood, Intrauterine ... |
OMIM:618397 |
Neuroleptic Malignant Syndrome |
|
Tachycardia, Pulmonary embolism, Rhabdomyolysis, Hypertension, Agitation, Bradycardia, Hypotensio... |
ORPHA:94093 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Ventricular hypertrophy, Rhabdomyolysis, Cardiomyopathy, Myopathy, Arrhythmia |
ORPHA:228305 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... |
OMIM:112250 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Corneal o... |
ORPHA:137675 |
Nephronophthisis 16 |
|
Situs inversus totalis, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, Hyper... |
OMIM:615382 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
EMG: myopathic abnormalities, Intrauterine growth retardation, Hypertrophic cardiomyopathy |
OMIM:620326 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Double outlet right ventricle, Coloboma, Hypoplastic left heart, Pulmo... |
OMIM:220210 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Scapular winging, Inability to walk, Congestive heart failure, Rhabdomyo... |
ORPHA:26791 |
Frontonasal Dysplasia 1 |
|
Cataract, Anterior basal encephalocele, Coloboma, Pectoral muscle hypoplasia/aplasia, Joint contr... |
OMIM:136760 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Ocular anterior segment dysgenesis, Iris coloboma, Coloboma, Peters anomaly |
OMIM:610023 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Congestive heart failure, Dilated cardiomyopathy, Rhabdomyolysis, Pigmentary retinopathy, Myopath... |
OMIM:609015 |
Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density |
ORPHA:1237 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hip contracture, Retinal dystrophy, Ventricular septal defect, Intr... |
OMIM:616651 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Neonatal death, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Death in infancy |
OMIM:618835 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Macroglossia, Umbilical hernia, Bradycardia, Lethargy |
ORPHA:90673 |
Alg3-Cdg |
|
Cataract, Macroglossia, Neural tube defect, Cardiomyopathy, Arthrogryposis multiplex congenita |
ORPHA:79321 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Ataxia, Aggressive behavior, Dysmetria, Cardiomyopathy, Athetosis, Generalized amyotrophy, Diffic... |
ORPHA:572798 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... |
ORPHA:444013 |
Agel Amyloidosis |
|
Cataract, Ataxia, Facial palsy, Cardiomyopathy, Keratoconjunctivitis sicca, Arrhythmia, Lattice c... |
ORPHA:85448 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Rhabdomyolysis, Ventricular tachycardia, Cardiomyopathy, Hypotension, Lethargy, Arrhythmia |
ORPHA:159 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Ataxia, Ragged-red muscle fibers, Dysphagia, Loss of ambulation, Hypertrophic cardiomyopathy, Rod... |
OMIM:607426 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:306950 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Cataract, Ataxia, Aggressive behavior, Dilated cardiomyopathy, Gait ataxia, Death in... |
OMIM:618321 |
Developmental And Epileptic Encephalopathy 75 |
|
Cardiomyopathy, Optic atrophy, Optic disc pallor |
OMIM:618437 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Ventricular septal defect, P... |
ORPHA:26793 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Macroglossia, Bradycardia, Attention deficit hyperactivity disorder, Umbilical hernia, Lethargy |
ORPHA:90674 |
Alg1-Cdg |
|
Cardiomyopathy, Abnormal heart morphology |
ORPHA:79327 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretinal atrophy, Hy... |
ORPHA:5 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Cataract |
OMIM:273680 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Neonatal death, Lethargy, Patent ductus arteriosus |
OMIM:610498 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neonatal death, Rod-cone dystrophy, Retinal atrophy, Ataxia |
OMIM:610127 |
Infantile Liver Failure Syndrome 2 |
|
Cardiomyopathy, Lethargy |
OMIM:616483 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Telangiectasia of the skin, Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Finger ... |
OMIM:212112 |
Joubert Syndrome 15 |
|
Retinal dystrophy, Ataxia, Exencephaly, Coloboma, Retinopathy |
OMIM:614464 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Facial hyperostosis, Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecular... |
ORPHA:2780 |
Camurati-Engelmann Disease |
|
Increased bone mineral density, Diaphyseal sclerosis, Cortical thickening of long bone diaphyses,... |
OMIM:131300 |
Joubert Syndrome 32 |
|
Hypertrophic cardiomyopathy, Ataxia |
OMIM:617757 |
Hemochromatosis, Type 1 |
|
Cardiomegaly, Congestive heart failure, Telangiectasia, Cardiomyopathy, Arrhythmia |
OMIM:235200 |
Friedreich Ataxia |
|
Abnormal EKG, Ataxia, Congestive heart failure, Optic atrophy, Limb ataxia, Gait ataxia, Hypertro... |
OMIM:229300 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Overriding aorta, Ventricular septal defect, Sclerocornea, Congenital diaphragmatic her... |
OMIM:309801 |
Gmppb-Related Limb-Girdle Muscular Dystrophy R19 |
|
Proximal muscle weakness in upper limbs, Cataract, Dilatation of the ventricular cavity, Cardiomy... |
ORPHA:363623 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Absent muscle fiber merosin, Facial palsy, Inability to walk, Flexion contracture, Card... |
ORPHA:258 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Cataract, Ataxia, Hypertension, Arrhythmia, Death in childhood, Neonatal death, Umbilical hernia,... |
OMIM:614052 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia |
OMIM:608800 |
Usher Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Ataxia, Abnormal cardiovascular system physiology,... |
ORPHA:886 |
Pycnodysostosis |
|
Joint laxity, Increased bone mineral density, Overweight, Generalized osteosclerosis, Increased s... |
ORPHA:763 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Corneal dystrophy, Anorexia, Atrioventricular b... |
ORPHA:324 |
Marburg Hemorrhagic Fever |
|
Shock, Pericarditis, Tachycardia, Anorexia, Aggressive behavior, Hypovolemia, Capillary leak, Sub... |
ORPHA:99826 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Retinal detachment, Skeletal muscle atrophy, Cataract, Dilated cardiomyopathy, Opt... |
OMIM:253800 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Atr... |
OMIM:615355 |
Oculopharyngodistal Myopathy 1 |
|
Paroxysmal atrial fibrillation, Ataxia, Autophagic vacuoles, Facial palsy, Dilated cardiomyopathy... |
OMIM:164310 |
Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Osteoarthritis, Osteolysis, Pathologic fracture |
ORPHA:77259 |
Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density |
ORPHA:3352 |
Polyarteritis Nodosa |
|
Raynaud phenomenon, Cardiomyopathy, Pericarditis, Hypertension |
ORPHA:767 |
Cornelia De Lange Syndrome 2 |
|
Intrauterine growth retardation, Hypertrophic cardiomyopathy |
OMIM:300590 |
Hemochromatosis, Type 3 |
|
Cardiomyopathy |
OMIM:604250 |
Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:615279 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Retinal cotton wool spot, Raynaud phenomenon, Abnormal retinal vascu... |
ORPHA:247691 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Intrauterine growth retardation, Retinal dystrophy, Hip contracture |
ORPHA:353298 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Death in infancy, Congestive heart failure, Dilated cardiomyopathy, Death in childhood, Hypertrop... |
OMIM:611126 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Abnormal cardiac ventricle morphology, Jaw claudicatio... |
ORPHA:85443 |
Glycogen Storage Disease Iv |
|
Cardiomyopathy, Arthrogryposis multiplex congenita, Portal hypertension, Skeletal muscle atrophy |
OMIM:232500 |
Pituitary Adenoma 1, Multiple Types |
|
Left ventricular hypertrophy, Cardiomyopathy, Hypertension |
OMIM:102200 |
Gm1-Gangliosidosis, Type I |
|
Death in infancy, Abnormal heart valve morphology, Congestive heart failure, Cherry red spot of t... |
OMIM:230500 |
Alternating Hemiplegia Of Childhood |
|
Ataxia, Facial hypotonia, Cardiac conduction abnormality, Anorexia, Oral-pharyngeal dysphagia, Ag... |
ORPHA:2131 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc... |
OMIM:224300 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Decreased muscle mass, Portal hypertension, Cardiomegaly, Congestive heart failure, Cardiomyopath... |
ORPHA:465508 |
Myotonic Dystrophy 2 |
|
Tachycardia, Posterior subcapsular cataract, Iridescent posterior subcapsular cataract, Premature... |
OMIM:602668 |
Joubert Syndrome 14 |
|
Encephalocele, Ventricular septal defect, Ataxia, Morning glory anomaly, Meningocele, Optic atrop... |
OMIM:614424 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Telang... |
ORPHA:93672 |
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation |
|
Intrauterine growth retardation, Cardiomyopathy |
ORPHA:324525 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Skeletal muscle atrophy, Cataract, Ataxia, Choreoathetosis, Type 2 muscle fiber predominance, Arr... |
OMIM:615471 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Ataxia, Cardiomyopathy, Myopathy, Shoulder girdle muscle weakness, Difficulty walking, Increased ... |
ORPHA:98907 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... |
ORPHA:91495 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium mo... |
ORPHA:183 |
American Trypanosomiasis |
|
Myocarditis, Cardiomyopathy, Arrhythmia, Congestive heart failure |
ORPHA:3386 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Neonatal death, Hypertrophic cardiomyopathy, Developmental cataract |
OMIM:618810 |
Propionic Acidemia |
|
Cardiomyopathy, Cerebellar hemorrhage, Lethargy, Limb hypertonia |
OMIM:606054 |
Hurler Syndrome |
|
Death in infancy, Abnormal heart valve morphology, Corneal opacity, Angina pectoris, Camptodactyl... |
ORPHA:93473 |
Pseudoxanthoma Elasticum |
|
Abnormal endocardium morphology, Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of ... |
ORPHA:758 |
Werner Syndrome |
|
Increased bone mineral density, Slender build, Osteoporosis, Joint stiffness |
ORPHA:902 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Inability to walk, Flexion contracture, Optic atrophy, Gait ataxia, Attention deficit hyperactivi... |
OMIM:619383 |
Von Hippel-Lindau Disease |
|
Papilledema, Retinal detachment, Hypertensive retinopathy, Myocardial infarction, Myocarditis, Ma... |
ORPHA:892 |
Melas |
|
Wolff-Parkinson-White syndrome, Ataxia, Cardiac conduction abnormality, Dilated cardiomyopathy, O... |
ORPHA:550 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Sclerocornea, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardi... |
OMIM:300952 |
Fetal Gaucher Disease |
|
Death in infancy, Flexion contracture, Intracranial hemorrhage, Stillbirth, Neonatal death, Arthr... |
ORPHA:85212 |
Afibrinogenemia, Congenital |
|
Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Subdural hemorrhage, Death in adol... |
OMIM:202400 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Ataxia, Optic atrophy, Death in childhood, Pigmentary retinopathy, Increased intramyocellular lip... |
OMIM:220110 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Tricuspid regurgitation, Impulsivity, Aggressive behavior, Sinus bradycardia, Mitral regurgitation |
OMIM:261990 |
Sepsis In Premature Infants |
|
Tachycardia, Bradycardia, Hypotension |
ORPHA:90051 |
Autoimmune Hypoparathyroidism |
|
Increased bone mineral density |
ORPHA:36913 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Cardiomegaly, Amyloid deposition in the vitreous humor, Limb ataxia, Cardiomyopathy, Trun... |
OMIM:105210 |
Coach Syndrome 2 |
|
Hypertension, Coloboma, Chorioretinal coloboma |
OMIM:619111 |
Larsen-Like Syndrome, Lethal Type |
|
Neonatal death, Pulmonary insufficiency |
OMIM:245650 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... |
OMIM:610256 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hypertrophic cardiomyopathy, Patent foramen ovale, Death in childhood |
OMIM:614582 |
Hurler Syndrome |
|
Aortic regurgitation, Corneal opacity, Flexion contracture, Cardiomyopathy, Mitral regurgitation,... |
OMIM:607014 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Aggressive behavior, Optic atrophy, Leukocoria, Hy... |
OMIM:310600 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, EM... |
ORPHA:99901 |
Meacham Syndrome |
|
Death in infancy, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Aplasia of the ... |
OMIM:608978 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Truncus arteriosus, Situs inversus totalis, Stillbirth, Aortic valve stenosis, Pulmonic stenosis,... |
OMIM:615415 |
Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ... |
ORPHA:500 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Hyphema, Leukocoria, Microcor... |
OMIM:221900 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Patent ductus arteriosus, Death in childhood, Umbilical hernia, Hypert... |
OMIM:612938 |
Desmosterolosis |
|
Increased bone mineral density, Failure to thrive, Osteopetrosis |
ORPHA:35107 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Aortic regurgitation, Cardiomyopathy |
OMIM:600721 |
Vici Syndrome |
|
Cataract, Macular atrophy, Congestive heart failure, Dilated cardiomyopathy, Ocular albinism, Dev... |
OMIM:242840 |
Combined Oxidative Phosphorylation Deficiency 5 |
|
Death in infancy, Hypertrophic cardiomyopathy |
OMIM:611719 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Ataxia, Optic atrophy, Skeletal muscle steatosis, Pigmentary retinopathy, Gait disturbance, Hyper... |
ORPHA:436271 |
Dysostosis, Stanescu Type |
|
Massively thickened long bone cortices, Increased bone mineral density |
ORPHA:1798 |
8P23.1 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Abnormal ... |
ORPHA:251071 |
Pparg-Related Familial Partial Lipodystrophy |
|
Calf muscle pseudohypertrophy, Congestive heart failure, Abnormality of skeletal muscle fiber siz... |
ORPHA:79083 |
Neutral Lipid Storage Myopathy |
|
Hand muscle weakness, Fatty replacement of skeletal muscle, Congestive heart failure, Generalized... |
ORPHA:98908 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Death in infancy, Patent ductus arteriosus, Perimembranous ventricular septal defect, Camptodacty... |
OMIM:608104 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:2701 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hypertrophic cardiomyopathy |
ORPHA:369 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cardiomyopathy, Cerebellar hemorrhage, Lethargy |
OMIM:251000 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Cataract, Epistaxis, Anorexia, Ocular albinism, Cardiomyopathy, Asti... |
ORPHA:79430 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Congestive heart failure, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy,... |
ORPHA:2348 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Abnormal hemidiaphragm morphology... |
ORPHA:980 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Skeletal muscle atrophy, Cataract, Retinal atrophy, Retinal dystrophy, Unstead... |
ORPHA:90324 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Osteopetrosis, Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis |
OMIM:618476 |
Pseudohypoparathyroidism Type 1B |
|
Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis |
ORPHA:94089 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Impaired myocardial contractility, Hypovolemic shock, Cardiomyopathy, Camptodactyly... |
ORPHA:158687 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shortened PR interval... |
ORPHA:308552 |
Noonan Syndrome 5 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis |
OMIM:611553 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo... |
ORPHA:67043 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Ataxia, Cardiac conduction abnormality, Dilated cardiomyopathy, Optic atrophy, Ragged-red muscle ... |
ORPHA:255210 |
Mucopolysaccharidosis-Plus Syndrome |
|
Congestive heart failure, Inability to walk, Patent ductus arteriosus, Optic atrophy, Flexion con... |
OMIM:617303 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal heart valve morpholog... |
ORPHA:217085 |
Poems Syndrome |
|
Sclerosis of hand bone, Sclerosis of skull base, Sclerosis of foot bone, Weight loss |
ORPHA:2905 |
Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Cranial hyperostosis, Decreased osteoclast count, Osteopetrosis |
OMIM:259720 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Dilated cardiomyopathy, Pigmentary retinopathy, Intrauterine growth retard... |
ORPHA:71212 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H... |
ORPHA:464321 |
Noonan Syndrome 7 |
|
Impaired oropharyngeal swallow response, Pulmonic stenosis, Dysphagia, Atrial septal defect, Hype... |
OMIM:613706 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal heart valve morpholog... |
ORPHA:217093 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Tachycardia, Tricuspid regurgitation, Congestive heart failu... |
ORPHA:505248 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Death in infancy, Neonatal death, Pulmonary arterial hypertension, Facial paralysis, Lethargy |
OMIM:605711 |
Costello Syndrome |
|
Keratoconus, Ventricular septal defect, Mitral valve prolapse, Macroglossia, Pulmonic stenosis, T... |
ORPHA:3071 |
Sheehan Syndrome |
|
Palpitations, Orthostatic hypotension, Bradycardia |
ORPHA:91355 |
Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Failure to thrive, Tarsal synostosis, Camptodactyly of finger, Ca... |
ORPHA:90652 |
Bresek Syndrome |
|
Optic nerve hypoplasia, Intrauterine growth retardation, Iris coloboma, Neonatal death |
ORPHA:85284 |
Aicardi-Goutieres Syndrome 1 |
|
Inability to walk, Cardiomyopathy, Vasculitis, Self-mutilation |
OMIM:225750 |
Vernal Keratoconjunctivitis |
|
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... |
ORPHA:70476 |
Microphthalmia, Syndromic 9 |
|
Diaphragmatic eventration, Ventricular septal defect, Congenital diaphragmatic hernia, Patent duc... |
OMIM:601186 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Hypertrophic cardiomyopathy, Palpitations, Abnormal heart morphology |
OMIM:618250 |
12Q14 Microdeletion Syndrome |
|
Osteopoikilosis, Failure to thrive |
ORPHA:94063 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Optic nerve hypoplasia, Macroglossia, Bradycardia, Umbilical hernia, Lethargy |
ORPHA:226307 |
Mucopolysaccharidosis Type 1 |
|
Abnormal heart valve morphology, Corneal opacity, Congestive heart failure, Optic atrophy, Abnorm... |
ORPHA:579 |
Schwartz-Jampel Syndrome |
|
Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Shoulder flexion ... |
ORPHA:800 |
Leopard Syndrome 2 |
|
Hypertrophic cardiomyopathy |
OMIM:611554 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Cataract, Ventricular septal defect, Ataxia, Multiple joint contractures... |
ORPHA:506 |
Oculoectodermal Syndrome |
|
Atrial septal defect, Hyperactivity, Transient ischemic attack, Patent ductus arteriosus, Chorior... |
OMIM:600268 |
Trichothiodystrophy |
|
Multiple joint contractures, Ventricular septal defect, Developmental cataract, Microcornea, Card... |
ORPHA:33364 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Osteopetrosis |
OMIM:612840 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Ataxia, Optic atrophy, Cardiomyopathy, Myopathy, Polydipsia |
ORPHA:3463 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Macroglossia, Umbilical hernia, Bradycardia, Lethargy |
OMIM:218700 |
Isolated Complex I Deficiency |
|
Optic disc pallor, Ataxia, Optic neuropathy, Intrauterine growth retardation, Hypertrophic cardio... |
ORPHA:2609 |
Bone Dysplasia, Lethal Holmgren Type |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Patent ductus arteriosus |
ORPHA:1842 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Death in infancy, Pericarditis, Ataxia, Pericardial effusion, Flexion contracture, Dysmetria, Car... |
OMIM:212065 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Coloboma, Ventricular septal defect, Anterior encephalocele |
OMIM:601357 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Cardiomegaly, Flexion contracture, Intrauterine growth retardation, Hy... |
OMIM:616897 |
3-Methylglutaconic Aciduria Type 7 |
|
Choreoathetosis, Cardiomyopathy, Cataract |
ORPHA:445038 |
Noonan Syndrome 10 |
|
Ventricular septal defect, Prominent corneal nerve fibers, Patent ductus arteriosus, Mitral valve... |
OMIM:616564 |
Mucolipidosis Type Ii |
|
Aortic regurgitation, Hip contracture, Abnormal atrioventricular valve physiology, Abnormal mitra... |
ORPHA:576 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis |
OMIM:618541 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Transient ischemic attack, Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Car... |
ORPHA:365 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Cranial hyperostosis, Limitation of joint mobility, Joint hyperfl... |
ORPHA:2658 |
Kenny-Caffey Syndrome, Type 2 |
|
Increased bone mineral density, Small for gestational age, Thickened cortex of long bones |
OMIM:127000 |
Osteopetrosis, Autosomal Recessive 3 |
|
Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis |
OMIM:259730 |
Heart Block, Congenital |
|
Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no... |
OMIM:234700 |
Tarp Syndrome |
|
Subdural hemorrhage, Optic atrophy, Athetosis, Neonatal death, Atrial septal defect, Intrauterine... |
OMIM:311900 |
Martsolf Syndrome 1 |
|
Cataract, Cardiac arrest, Congestive heart failure, Developmental cataract, Cardiomyopathy |
OMIM:212720 |
Hermansky-Pudlak Syndrome 1 |
|
Hematochezia, Cardiomyopathy, Ocular albinism, Epistaxis |
OMIM:203300 |
Pycnodysostosis |
|
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand |
OMIM:265800 |
Marcus-Gunn Syndrome |
|
Coloboma, Morning glory anomaly, Abnormal heart morphology |
ORPHA:91412 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Abnormal cornea morphology, Dilated cardiomyopathy, Bradycardia |
ORPHA:79404 |
Mucopolysaccharidosis, Type Vi |
|
Tricuspid regurgitation, Corneal opacity, Flexion contracture, Cervical myelopathy, Cardiomyopath... |
OMIM:253200 |
Hepatorenocardiac Degenerative Fibrosis |
|
Hypertrophic cardiomyopathy, Portal hypertension |
OMIM:619902 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Retinal detachment, Cataract, Corneal opacity, Retinal atrophy, Optic ne... |
OMIM:236670 |
X-Linked Hypophosphatemia |
|
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Enthesitis, ... |
ORPHA:89936 |
Primary Hyperoxaluria |
|
Optic disc pallor, Choroidal neovascularization, Heart block, Raynaud phenomenon, Arterial occlus... |
ORPHA:416 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of retinal pigmentation, Tricuspid regurgitation, Corneal opacity, Chorioretinal dysp... |
ORPHA:2556 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
OMIM:231530 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Osteolysis, Weight loss |
ORPHA:35687 |
Noonan Syndrome 2 |
|
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Cardiomyopathy, Hypertrophi... |
OMIM:605275 |
Mucopolysaccharidosis, Type Vii |
|
Abnormal heart valve morphology, Corneal opacity, Diastasis recti, Flexion contracture, Cardiomyo... |
OMIM:253220 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Endocardial fibroelastosis |
OMIM:276822 |
Pseudohypoparathyroidism Type 1A |
|
Increased bone mineral density, Obesity, Reduced bone mineral density, Hyperostosis frontalis int... |
ORPHA:79443 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Hypertrophic cardiomyopathy, Joint contracture |
OMIM:614462 |
Noonan Syndrome 4 |
|
Ventricular septal defect, Blue irides, Pulmonic stenosis, Atrial septal defect, Hypertrophic car... |
OMIM:610733 |
Noonan Syndrome 6 |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:613224 |
Acquired Generalized Lipodystrophy |
|
Calf muscle pseudohypertrophy, Abnormal cardiovascular system physiology, Cardiomyopathy, Myopath... |
ORPHA:79086 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Pericardial effusion, Restrictive cardiomyopathy, Right atrial enlargement, Endocardial fibroelas... |
OMIM:619313 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Restlessness, Ataxia, Cardiac conduction abnormality, Myocardit... |
ORPHA:466677 |
Arterial Tortuosity Syndrome |
|
Keratoconus, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Myocarditis, Cong... |
ORPHA:3342 |
Raine Syndrome |
|
Arthrogryposis multiplex congenita, Increased bone mineral density, Subperiosteal bone formation |
OMIM:259775 |
Mitochondrial Phosphate Carrier Deficiency |
|
Hypertrophic cardiomyopathy |
OMIM:610773 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Cardiomyopathy, Rod-cone dystrophy, Ataxia |
OMIM:616084 |
Congenital Generalized Lipodystrophy |
|
Skeletal muscle hypertrophy, Congestive heart failure, Hypertrophic cardiomyopathy, Macroglossia |
ORPHA:528 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Cardiomyopathy, Arrhythmia, Rhabdomyolysis, Myopathy |
ORPHA:157 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Astigmatism, Dysphagia, Difficulty walking, Sinus bradycardia |
OMIM:619482 |
Desmosterolosis |
|
Joint contracture of the hand, Generalized osteosclerosis, Failure to thrive, Arthrogryposis mult... |
OMIM:602398 |
Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Diastasis recti, Cardiomegaly, Myelopathy, Congestive heart failure, Heart ... |
OMIM:252500 |
Pseudohypoparathyroidism Type 1C |
|
Ectopic ossification, Increased bone mineral density, Obesity |
ORPHA:79444 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart failure, Prox... |
ORPHA:280365 |
Congenital Enterovirus Infection |
|
Pericardial effusion, Cardiomyopathy, Myocarditis, Hypotension |
ORPHA:292 |
Rabson-Mendenhall Syndrome |
|
Ventricular septal defect, Cardiomyopathy, Macroglossia, Atrial septal defect, Intrauterine growt... |
ORPHA:769 |
Lymphatic Malformation 13 |
|
Patent ductus arteriosus, Retinopathy of prematurity, Mitral regurgitation, Neonatal death, Atria... |
OMIM:620244 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Skeletal muscle atrophy, Congestive heart failure, Dilated cardiomyopathy, Hematochezia, Cardiomy... |
OMIM:615895 |
Gaucher Disease |
|
Osteopenia, Increased bone mineral density, Osteomyelitis, Recurrent fractures, Joint stiffness, ... |
ORPHA:355 |
Penoscrotal Transposition |
|
Cardiomyopathy |
ORPHA:2842 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Cardiomyopathy, Muscular dystrophy |
ORPHA:88618 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Optic disc pallor, Skeletal muscle atrophy, Death in infancy, Ataxia, Optic neuropathy, Ragged-re... |
OMIM:252010 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Aggressive behavior, Patent ductus arteriosus, Unsteady gait, Flexion co... |
ORPHA:17 |
Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Hypoplasia of the mu... |
OMIM:253310 |
Pheochromocytoma |
|
Tachycardia, Hypertensive retinopathy, Cerebral hemorrhage, Congestive heart failure, Development... |
OMIM:171300 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, R... |
ORPHA:85167 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Neonatal death, Lethargy |
OMIM:618232 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Spina bifida, Ventricular septal... |
ORPHA:508498 |
Beta-Thalassemia |
|
Hypertrophic cardiomyopathy |
ORPHA:848 |
Pituitary Gigantism |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
ORPHA:99725 |
Yellow Fever |
|
Shock, Supraventricular arrhythmia, Hematemesis, Capillary leak, Reduced left ventricular ejectio... |
ORPHA:99829 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cardiomegaly, Heart block, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia |
ORPHA:228308 |
Gaucher Disease, Perinatal Lethal |
|
Akinesia, Cardiomegaly, Dysphagia, Neonatal death, Intrauterine growth retardation, Arthrogryposi... |
OMIM:608013 |
Myotubular Myopathy With Abnormal Genital Development |
|
Neonatal death, Myopathy, Death in infancy, Centrally nucleated skeletal muscle fibers |
OMIM:300219 |
Gaucher Disease Type 3 |
|
Increased bone mineral density, Osteolysis, Increased susceptibility to fractures |
ORPHA:77261 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy |
OMIM:619053 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Osteopetrosis |
ORPHA:3240 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary insufficiency, Bradycardia, Congenital diaphragmatic hernia |
OMIM:614437 |
Gm1 Gangliosidosis Type 1 |
|
Macroglossia, Intrauterine growth retardation, Cherry red spot of the macula, Cardiomyopathy |
ORPHA:79255 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Neonatal death, Dextrocardia, Atrioventricular canal defect, Transposition of the great arteries |
OMIM:314390 |
Hyperoxaluria, Primary, Type I |
|
Pathologic fracture, Increased bone mineral density |
OMIM:259900 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Increased bone mineral density, Limitation of joint mobility, Osteoporosi... |
ORPHA:79474 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis |
OMIM:241410 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Cataract, Ataxia, Ragged-red muscle fibers, Rhabdomyolysis, Neonatal death, Hypertrophic cardiomy... |
OMIM:124000 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Cardiomyopathy, Patent ductus arteriosus, Abnormal cardiac septum morphology |
OMIM:217980 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Portal hypertension, Bradykinesia, Dysdiadochokinesis, Gait disturbance, Difficulty walking, Trun... |
ORPHA:309854 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Restrictive cardiomyopathy, Patent ductus arteriosus, Ataxia |
OMIM:615398 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Cataract, Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abn... |
ORPHA:353281 |
Noonan Syndrome 14 |
|
Aortic regurgitation, Scapular winging, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic ca... |
OMIM:619745 |
Cantú Syndrome |
|
Abnormal heart valve morphology, Cardiomegaly, Patent ductus arteriosus, Umbilical hernia, Hypert... |
ORPHA:1517 |
Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Synostosis of joints |
ORPHA:50945 |
Microphthalmia, Syndromic 5 |
|
Cataract, Retinal dystrophy, Optic nerve hypoplasia, Microcornea, Coloboma |
OMIM:610125 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Rhabdomyolysis |
OMIM:602199 |
Microcephaly 13, Primary, Autosomal Recessive |
|
Intrauterine growth retardation, Restrictive cardiomyopathy |
OMIM:616051 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Death in infancy, Intraventricular hemorrhage, Death in adolescence, Death in childhood, Neonatal... |
OMIM:619055 |
Familial Multiple Lipomatosis |
|
Coloboma, Abnormal tricuspid valve morphology, Chorioretinitis |
ORPHA:199276 |
Pearson Syndrome |
|
Cataract, Ataxia, Cardiac conduction abnormality, Abnormal heart morphology, Corneal stromal edem... |
ORPHA:699 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Aortic regurgitation, Hyperactivity, Ventricular septal defect, Astigmatism, Pulmonic stenosis, A... |
OMIM:607721 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Pulmonary insufficiency, Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve... |
OMIM:265380 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Hypertrophic cardiomyopathy, Falls, Difficulty walking |
OMIM:618222 |
Cartilage-Hair Hypoplasia |
|
Abnormality of retinal pigmentation, Heart block, Aplasia/Hypoplasia of the abdominal wall muscul... |
ORPHA:175 |
Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... |
OMIM:119600 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Chorioretinal hyperpigmentation, Hypertrophic cardiomyopathy, Optic atrophy |
OMIM:618329 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
Sanjad-Sakati Syndrome |
|
Patchy osteosclerosis |
ORPHA:2323 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Intraventric... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Intraventric... |
ORPHA:363958 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Cardiomyopathy, Skeletal muscle atrophy, Increased sarcoplasmic glycogen |
ORPHA:264580 |
Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, Coronary sinus enla... |
OMIM:618280 |
Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... |
ORPHA:3384 |
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis |
OMIM:226100 |
Williams Syndrome |
|
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Dysmetria, Compulsive behaviors, Atri... |
ORPHA:904 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Cataract, Hypoplastic right heart, Congestive heart failure, Right bundle branch block, Joint con... |
OMIM:617403 |
Toriello-Carey Syndrome |
|
Patent ductus arteriosus, Cardiomyopathy, Abnormal cardiac septum morphology, Pulmonic stenosis, ... |
ORPHA:3338 |
Familial Glucocorticoid Deficiency |
|
Hypertrophic cardiomyopathy, Hypotension, Anorexia |
ORPHA:361 |
Abcd Syndrome |
|
Neonatal death, Hypopigmentation of the fundus |
OMIM:600501 |
Postinfectious Vasculitis |
|
Cerebral vasculitis, Anorexia, Raynaud phenomenon, Retinal vasculitis, Cardiomyopathy, Hypertensi... |
ORPHA:48435 |
Proximal Renal Tubular Acidosis |
|
Cataract, Band keratopathy, Hypovolemia, Coloboma, Subvalvular aortic stenosis, Polydipsia |
ORPHA:47159 |
Acro-Renal-Ocular Syndrome |
|
Cataract, Optic disc hypoplasia, Optic disc coloboma, Microcornea, Coloboma, Chorioretinal colobo... |
ORPHA:959 |
Leopard Syndrome 1 |
|
Bundle branch block, Scapular winging, Complete atrioventricular canal defect, Mitral valve prola... |
OMIM:151100 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Cataract, Ventricular septal defect, Optic nerve hypoplasia, Sclerocornea, P... |
OMIM:206900 |
Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Bundle branch block, Death in infancy, Ventricular septal defect, Camptoda... |
ORPHA:373 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Tricuspid regurgitation, Noncompaction cardiomyopathy, Cataract, Congestive heart failure |
ORPHA:508542 |
Noonan Syndrome 3 |
|
Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Pulmonic stenosis, Tr... |
OMIM:609942 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Retinal atrophy, Optic atrophy, Buphthalmos, Coloboma, Hypoplasia of the retina, Retina... |
OMIM:253280 |
Camurati-Engelmann Disease |
|
Waddling gait, Skeletal muscle atrophy, Ataxia, Facial palsy, Anorexia, Optic atrophy, Hypertroph... |
ORPHA:1328 |
Hereditary Spherocytosis |
|
Restrictive cardiomyopathy, Ataxia |
ORPHA:822 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal death, Pulmonary arterial hypertension, Death in infancy |
OMIM:265120 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Optic disc pallor, Cataract, Bicuspid aortic valve, Ventricular sep... |
OMIM:607872 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Pericardial effusion, Coloboma, Hematochezia, Death in infancy |
OMIM:618183 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Patent ductus arteriosus, Abnormal heart morphology, Astigmatism, Atrial septal defect, Restricti... |
ORPHA:369837 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Umbilical hernia, Generalized muscular appearance from birth, Polyphagia, Cardiomyopathy |
OMIM:608594 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Portal hypertension, Situs inversus totalis, Patent ductus arteriosus, Neonatal death, Atrial sep... |
OMIM:208540 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Osteopetrosis |
OMIM:612301 |
Sclerosteosis 1 |
|
Facial palsy secondary to cranial hyperostosis, Cortically dense long tubular bones, Sclerotic sc... |
OMIM:269500 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Death in infancy, Bicuspid aortic valve, Mitral atresia, Ataxia, Aortic valve atresia, Dysmetria,... |
OMIM:220111 |
Zimmermann-Laband Syndrome 1 |
|
Cataract, Patent ductus arteriosus, Cardiomyopathy, Umbilical hernia, Spina bifida occulta |
OMIM:135500 |
Neu-Laxova Syndrome 1 |
|
Cataract, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Joint contracture of... |
OMIM:256520 |
Autosomal Recessive Malignant Osteopetrosis |
|
Osteopetrosis, Recurrent fractures, Craniosynostosis, Reduced bone mineral density |
ORPHA:667 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Aicardi-Goutieres Syndrome 7 |
|
Pericardial effusion, Hematemesis, Vasculitis, Hematochezia, Hypertension, Intrauterine growth re... |
OMIM:615846 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Generalized muscular appearance from birth, Ventricular septal hypertrophy, Umbilical hernia, Hyp... |
OMIM:269700 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Lower limb dysmetria, Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse... |
ORPHA:363700 |
Smith-Lemli-Opitz Syndrome |
|
Death in infancy, Hyperactivity, Cataract, Ventricular septal defect, Aggressive behavior, Patent... |
OMIM:270400 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hematemesis, Hypertension, Neonatal death, Portal hypertension |
OMIM:263200 |
Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Cardiomegaly, Raynaud phenomenon, Developmental glaucoma, ... |
ORPHA:51 |
Fanconi Anemia |
|
Cataract, Spina bifida, Patent ductus arteriosus, Aplasia/Hypoplasia of the iris, Astigmatism, Ab... |
ORPHA:84 |
Yunis-Varon Syndrome |
|
Cataract, Ventricular septal defect, Sclerocornea, Cardiomegaly, Renovascular hypertension, Cardi... |
ORPHA:3472 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Colo... |
OMIM:619534 |
Mednik Syndrome |
|
Neonatal death, Death in infancy, Cataract, Death in childhood |
OMIM:609313 |
Denys-Drash Syndrome |
|
Neonatal death, Hypertension, Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia |
OMIM:194080 |
Osteopetrosis With Renal Tubular Acidosis |
|
Osteopetrosis, Failure to thrive, Recurrent fractures |
ORPHA:2785 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sclerosis of skull base, Failure to thrive, Increased density of long bones, Thickened cortex of ... |
OMIM:269150 |
Costello Syndrome |
|
Ventricular septal defect, Rhabdomyosarcoma, Achilles tendon contracture, Mitral valve prolapse, ... |
OMIM:218040 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Peripheral retinal avascularization, Ventricular septal defect, Interphalangeal joint contracture... |
ORPHA:96334 |
Charge Syndrome |
|
Cataract, Overriding aorta, Ventricular septal defect, Facial palsy, Secundum atrial septal defec... |
OMIM:214800 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Hypertrophic cardiomyopathy |
OMIM:616539 |
Beckwith-Wiedemann Syndrome |
|
Macroglossia, Cardiomyopathy, Diastasis recti, Cardiomegaly |
OMIM:130650 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypertrophic cardiomyopathy |
OMIM:613673 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Death in infancy, Keratitis, Death in childhood, Hypertension, Neonatal death, Recurrent corneal ... |
OMIM:308205 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Ventricular septal defect, Facial hypotonia, Congenital diaphragmatic hernia, Diastasis recti, Pa... |
OMIM:312870 |
17Q11 Microdeletion Syndrome |
|
Telangiectasia of the skin, Rhabdomyosarcoma, Retinal vascular proliferation, Renovascular hypert... |
ORPHA:97685 |
Castleman Disease |
|
Restrictive cardiomyopathy |
ORPHA:160 |
Tyrosinemia, Type I |
|
Melena, Hypertrophic cardiomyopathy, Gastrointestinal hemorrhage |
OMIM:276700 |
Roberts-Sc Phocomelia Syndrome |
|
Cataract, Corneal opacity, Ventricular septal defect, Ankle flexion contracture, Patent ductus ar... |
OMIM:268300 |
Beckwith-Wiedemann Syndrome |
|
Diastasis recti, Congenital diaphragmatic hernia, Cardiomegaly, Rhabdomyosarcoma, Large placenta,... |
ORPHA:116 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
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Cataract, Patent ductus arteriosus, Cardiomyopathy, Astigmatism, Difficulty walking, Atrial septa... |
ORPHA:480880 |
Leprechaunism |
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Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Severe intrauterine growth retardation |
ORPHA:508 |
Noonan Syndrome 1 |
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Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Hyp... |
OMIM:163950 |
Yunis-Varon Syndrome |
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Cataract, Ventricular septal defect, Sclerocornea, Heart murmur, Cardiomyopathy, Pulmonary arteri... |
OMIM:216340 |
Pallister-Killian Syndrome |
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Cataract, Ventricular septal defect, Congenital diaphragmatic hernia, Inability to walk, Patent d... |
OMIM:601803 |
Pmm2-Cdg |
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Pericarditis, Cataract, Angina pectoris, Ataxia, Multiple joint contractures, Pericardial effusio... |
ORPHA:79318 |