Myofibrillar Myopathy 11 |
|
Fatigue, Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Dysphagia, Cal... |
OMIM:619178 |
Myopathy, Sarcoplasmic Body |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... |
OMIM:620286 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea... |
OMIM:181350 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, Dysphagia, EMG... |
OMIM:608423 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Proximal muscle weakness in upper limbs, Scapular winging, Low back pain, Centrally nucleated ske... |
OMIM:619733 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... |
OMIM:615424 |
Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... |
ORPHA:2593 |
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu... |
OMIM:601846 |
Exercise Intolerance, Riboflavin-Responsive |
|
Exercise intolerance, Ragged-red muscle fibers |
OMIM:616839 |
Rhabdomyolysis, Susceptibility To, 1 |
|
Exercise intolerance, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Type 2 muscle f... |
OMIM:620235 |
Spinal Muscular Atrophy, Type Iv |
|
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... |
OMIM:271150 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Wolff-Parkinson-White syndrome, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,... |
OMIM:619566 |
Progressive Familial Heart Block, Type Ia |
|
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... |
OMIM:113900 |
Polyglucosan Body Myopathy 2 |
|
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we... |
OMIM:616199 |
Inclusion Body Myositis |
|
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... |
ORPHA:611 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Back pain, Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of ske... |
OMIM:618129 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... |
OMIM:254110 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617760 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Skeletal muscle atrophy, Axial muscle atrophy, Frequent falls, Bilateral ptosis, Limb-girdle musc... |
ORPHA:254361 |
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Dysphagia, Weakness of faci... |
OMIM:181400 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Myopathy, Centronuclear, 4 |
|
Exercise intolerance, Myalgia, Type 1 muscle fiber predominance, Centrally nucleated skeletal mus... |
OMIM:614807 |
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... |
OMIM:117000 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia |
OMIM:300376 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
Brugada Syndrome 2 |
|
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... |
OMIM:611777 |
Myopathy, Distal, Tateyama Type |
|
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... |
OMIM:614321 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... |
ORPHA:99106 |
Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Postural tremor, Ankle fle... |
OMIM:616668 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval |
OMIM:220400 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Somatic sensory dysfunction, Progressive distal muscular atrophy, Ataxia, Kyphoscoliosis, Obesity... |
ORPHA:459033 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... |
OMIM:618655 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Reduced muscle fiber alpha dystroglycan, Dilated cardiomyopathy, Calf muscle hypertrophy, Shoulde... |
ORPHA:34515 |
Muscular Dystrophy, Progressive Pectorodorsal |
|
Scapular winging, Arrhythmia, Shoulder girdle muscle weakness, Muscular dystrophy |
OMIM:310095 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Myasthenic Syndrome, Congenital, 14 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged... |
OMIM:616228 |
Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... |
OMIM:160150 |
Long Qt Syndrome 10 |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... |
OMIM:611819 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Proximal lower limb am... |
OMIM:158600 |
Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... |
OMIM:616852 |
Nonaka Myopathy |
|
Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu... |
OMIM:605820 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Fatigue, Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Weakness of ... |
OMIM:619477 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Prolonged QT interval, Hypoglycosylation of alpha-dystroglycan, Cataract, Generalized limb muscle... |
OMIM:615351 |
Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Exercise intolerance, Short stature, Facial palsy, Ragged-red muscle fibers, Proximal muscle weak... |
OMIM:616209 |
Roussy-Lévy Syndrome |
|
Impaired vibratory sensation, Skeletal muscle atrophy, Somatic sensory dysfunction, Postural trem... |
ORPHA:3115 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... |
OMIM:608358 |
Myopathy, Myofibrillar, 6 |
|
Scapular winging, Thoracic scoliosis, Facial palsy, Myofibrillar myopathy, Spinal rigidity, Diaph... |
OMIM:612954 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio... |
OMIM:611705 |
Congenital Heart Block |
|
Cyanosis, First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atriovent... |
ORPHA:60041 |
Atrial Fibrillation, Familial, 9 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... |
OMIM:613980 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Elbow flexion contracture, Joint contracture, Muscular dystrophy, Generalized amyotrophy, Scolios... |
OMIM:616516 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Keratoconus, Ventricular escape rhythm, Poor fine motor coordination, Sick sinus syndrome, Bradyc... |
ORPHA:542306 |
Muscular Dystrophy, Congenital, Lmna-Related |
|
Hip contracture, Paroxysmal atrial fibrillation, Elbow contracture, Spinal rigidity, Scapuloperon... |
OMIM:613205 |
Long Qt Syndrome 14 |
|
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... |
OMIM:616247 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Death in infancy, Increased variability in muscle fiber diameter, Bradycardia, Death in childhood... |
OMIM:620265 |
Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
Gne Myopathy |
|
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Cyanosis, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Hypox... |
ORPHA:70587 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc... |
OMIM:612999 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Spinal rigidity, Limb-girdle muscl... |
OMIM:609308 |
Congenital Myopathy 3 With Rigid Spine |
|
Failure to thrive, Decreased body weight, Short stature, Facial palsy, Centrally nucleated skelet... |
OMIM:602771 |
Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f... |
OMIM:618823 |
Myopathy, Distal, 5 |
|
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... |
OMIM:617030 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Increased QRS voltage, Knee flexi... |
OMIM:619040 |
Autosomal Recessive Spastic Paraplegia Type 43 |
|
Impaired vibratory sensation, Ankle flexion contracture, Babinski sign, Knee flexion contracture,... |
ORPHA:320370 |
Congenital Myopathy 18 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e... |
OMIM:620246 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ... |
OMIM:613530 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Exercise intolerance, Proximal muscle weakness in upper limbs, Short stature, Ragged-red muscle f... |
ORPHA:457050 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers |
OMIM:618992 |
Myopathy, Vacuolar, With Casq1 Aggregates |
|
Myalgia, Muscle fiber calsequestrin 1-containing inclusion bodies |
OMIM:616231 |
Inclusion Body Myositis |
|
Inflammatory myopathy, Dysphagia, Rimmed vacuoles |
OMIM:147421 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Centrally nucleated skeletal muscle fibers, Abdominal pain, Limb-girdle muscle weakness, Myopathy... |
ORPHA:86812 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... |
OMIM:604286 |
Myopathy, Myofibrillar, 2 |
|
Cataract, Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome ... |
OMIM:608810 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Atrial Fibrillation, Familial, 3 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... |
OMIM:607554 |
Long Qt Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Right bundle branch block, Muscular dystrophy, Skeletal muscle hypertrophy |
OMIM:613158 |
Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Muscular dystrophy, Cardiomyopathy |
OMIM:309930 |
Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Failure to thrive, Elbow contracture, Centrally nuclea... |
OMIM:620310 |
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Scapular winging, Pelvic girdle amyotrophy, Lower limb muscle weakness, Ankle flexion contracture... |
ORPHA:267 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Ataxia, Sudden cardiac death, Congestive hea... |
OMIM:610198 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Paraparesis, Distal sensory impairment, Upper limb muscle weakness, Distal amyotrophy, Scoliosis,... |
OMIM:302802 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Kyphosis, Paraparesis, Skeletal muscle hypertrophy, Scol... |
ORPHA:99014 |
Bronchopulmonary Dysplasia |
|
Small for gestational age, Right ventricular failure, Atelectasis, Abnormal lung morphology, Diap... |
ORPHA:70589 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... |
OMIM:609115 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... |
ORPHA:34516 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Skeletal muscle atrophy, Reduced systolic function, Dilated cardiomyopathy, Macroglossia, Calf mu... |
OMIM:616827 |
Paraparetic Variant Of Guillain-Barré Syndrome |
|
Recurrent acute respiratory tract infection, Paraparesis, Sciatica, Impaired distal proprioception |
ORPHA:231445 |
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Elbow contracture, Ankle contracture, Kyphoscoliosis, Spinal rigidity, Limb-gird... |
OMIM:620386 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Exercise intolerance, Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdo... |
OMIM:620138 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... |
OMIM:616201 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
Mitochondrial Myopathy With Diabetes |
|
Exercise intolerance, Facial palsy, Ragged-red muscle fibers, Limb muscle weakness, Proximal amyo... |
OMIM:500002 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Failure to thrive, Long eyebrows, Atrioventricular block, Joint contracture of the 5th finger, Br... |
OMIM:614407 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Bradycardia, Muscular dystroph... |
OMIM:614302 |
Long Qt Syndrome 11 |
|
Syncope, Prolonged QTc interval |
OMIM:611820 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Muscle Filaminopathy |
|
Back pain, Scapular winging, Left ventricular diastolic dysfunction, Fatty replacement of skeleta... |
ORPHA:171445 |
Distal Myopathy With Anterior Tibial Onset |
|
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h... |
ORPHA:178400 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Centrally nucleated skeletal muscle fibers, Flexion contracture, Incre... |
OMIM:618484 |
Hereditary Myopathy With Early Respiratory Failure |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... |
ORPHA:178464 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Gastrocnemius myalgia, Ragged-red muscle fibers, Increas... |
ORPHA:276435 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Myopathy, Myofibrillar, 1 |
|
Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular... |
OMIM:601419 |
Welander Distal Myopathy |
|
Distal amyotrophy, Rimmed vacuoles |
OMIM:604454 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Death in early adulthood, Right axis deviation, Elevated jugular venous pressure, Muscle fiber hy... |
OMIM:255160 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Type 1 fibers r... |
OMIM:255310 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... |
OMIM:618848 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Skeletal muscle atrophy, Absent P wave, Sudden cardiac death, First degree atrioventricular block... |
OMIM:310300 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Left ventricular diastolic dysfun... |
OMIM:618052 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... |
OMIM:612347 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... |
OMIM:616812 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Left ventricular hypertrophy, Atrial fibrillation, Pulmonary artery atresia, Prolonged PR interval |
OMIM:108900 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Dysphagia, Shoulder ... |
ORPHA:266 |
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Calf muscle pseudohypertrophy, Scapular winging, Thoracic scoliosis, Hyperlordosis, Achilles tend... |
ORPHA:62 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase... |
OMIM:617066 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Dpm3-Cdg |
|
Dilated cardiomyopathy, Babinski sign, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle... |
ORPHA:263494 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Recurrent respiratory infections, Facial palsy, Centrally nucleated skel... |
OMIM:255320 |
Paroxysmal Extreme Pain Disorder |
|
Impaired pain sensation, Tachycardia, Bradycardia, Flushing |
OMIM:167400 |
Brugada Syndrome 9 |
|
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Short neck, Vocal cord paralysis, Atrioventricular block, Decreased cervical spine fle... |
ORPHA:98863 |
Nemaline Myopathy 7 |
|
Lumbar hyperlordosis, Frequent falls, Kyphoscoliosis, Fatty replacement of skeletal muscle, Knee ... |
OMIM:610687 |
Multiminicore Myopathy |
|
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Spinal rigidity, Proxi... |
ORPHA:598 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Cerebral hemo... |
OMIM:619897 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Vocal cord paralysis, Atrioventricular block, Decreased cervical spine flexion due to ... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Vocal cord paralysis, Atrioventricular block, Decreased cervical spine flexion due to ... |
ORPHA:98853 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy... |
OMIM:608807 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... |
OMIM:601954 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overweight, Limb muscle ... |
ORPHA:486815 |
Meconium Aspiration Syndrome |
|
Abnormal pulmonary thoracic imaging finding, Atelectasis, Pneumothorax, Abnormal heart rate varia... |
ORPHA:70588 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Scoliosis, Increased ... |
OMIM:613204 |
Rett Syndrome |
|
Skeletal muscle atrophy, Cachexia, Kyphosis, Gait apraxia, Gait ataxia, Scoliosis, Truncal ataxia... |
OMIM:312750 |
Autosomal Recessive Spastic Paraplegia Type 25 |
|
Paraparesis, Spastic paraplegia, Cervical spondylosis, Developmental cataract, Abnormal lumbar sp... |
ORPHA:101005 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617072 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... |
OMIM:615422 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Skeletal muscle atrophy, Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Babinski si... |
OMIM:615157 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
Scapuloperoneal Myopathy, X-Linked Dominant |
|
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloperoneal myopathy,... |
OMIM:300695 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Proximal muscle weakness in upper limbs, Lower limb spasticity, Kyphoscoliosis, Babinski sign, Up... |
ORPHA:496689 |
Andersen-Tawil Syndrome |
|
Prolonged QT interval, Periodic hyperkalemic paralysis, Ventricular arrhythmia, Bidirectional ven... |
ORPHA:37553 |
Timothy Syndrome |
|
Prolonged QT interval, Pneumonia, Bronchitis, Ventricular tachycardia, Atrioventricular block, Br... |
OMIM:601005 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Amyotrophic Lateral Sclerosis 20 |
|
Amyotrophic lateral sclerosis, Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles |
OMIM:615426 |
Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Calf muscle pseudohypertrophy, Hyperlordosis, Congestive heart failure, Achilles te... |
OMIM:310200 |
Tularemia |
|
Tachycardia, Abnormal pulmonary thoracic imaging finding, Skin rash, Pneumonia, Erythema nodosum,... |
ORPHA:3392 |
Myopathy, Myofibrillar, 3 |
|
Achilles tendon contracture, Distal amyotrophy, Myalgia, Muscle fiber cytoplasmatic inclusion bod... |
OMIM:609200 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Tachycardia, Atrial fibrillation, Centrally nucleated skeletal muscle fibe... |
OMIM:613327 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Reduced muscle fiber alpha dystroglycan, Kyphoscoliosis, Fatty replacement of skeletal muscle, Ac... |
ORPHA:370980 |
Asbestos Intoxication |
|
Cyanosis, Right ventricular failure, Lung adenocarcinoma, Atelectasis, Pleural thickening, Ground... |
ORPHA:2302 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Fatigue, Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diame... |
OMIM:253601 |
Kearns-Sayre Syndrome |
|
Skeletal muscle atrophy, Ataxia, Progressive intervertebral space narrowing, Hemiplegia/hemipares... |
ORPHA:480 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Death in infancy, Cardiac arrest, Spasticity, Bradycardia, Hypertrophic cardiomyopathy, Failure t... |
OMIM:618235 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ... |
ORPHA:57777 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Short stature, Centrally nucleated skeletal muscle fibers, Failure to thrive, Skeletal muscle aut... |
OMIM:619518 |
King-Denborough Syndrome |
|
Short stature, Centrally nucleated skeletal muscle fibers, Exercise-induced myalgia, Type 1 muscl... |
OMIM:619542 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Atrioventricular block, Decreased cervical spine flexion due to contractures of poster... |
ORPHA:98855 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Distal amyotrophy, Ataxia, Kyphoscoliosis |
OMIM:619099 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Hyperlordosis, Flexion contrac... |
OMIM:253700 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
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 |
Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting |
OMIM:609524 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Obesity, Bradycardia, ... |
ORPHA:66529 |
Charcot-Marie-Tooth Disease Type 1A |
|
Skeletal muscle atrophy, Kyphoscoliosis, Sensory ataxia, Distal sensory impairment, Calf muscle h... |
ORPHA:101081 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia |
ORPHA:871 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Exercise-induced rhabdomyolysis, Inflammatory abnormality of the skin, Tac... |
ORPHA:26793 |
C1Q Deficiency 2 |
|
Chilblains, Discoid lupus rash, Atelectasis, Bronchiectasis, Facial erythema, Arthritis, Vasculit... |
OMIM:620321 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Facial palsy, Flexion contracture, Developmental cataract, Abnormal left ventricular function, Ca... |
OMIM:613155 |
Acute Interstitial Pneumonia |
|
Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Ground-... |
ORPHA:79126 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG, Somatic sensory dysfunction, Lower limb spasticity, Abnormal pyramidal sign, Cardio... |
ORPHA:1177 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Hypoglycosylation of alpha-dystroglycan, Cataract, Limb-girdle muscle weakness, Cardiomyopathy, M... |
OMIM:615352 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Weakness due to upper motor neuron dysfunction, Parkinsonism, Paraparesis, Babinski sign, Progres... |
ORPHA:275872 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... |
OMIM:617047 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Facial palsy, Hyperlordosis, Flexion contracture, Skeletal muscle hypertrophy, Macroglossia, Musc... |
OMIM:613156 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... |
ORPHA:603 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Spinal Muscular Atrophy, Ryukyuan Type |
|
Fasciculations, Spinal muscular atrophy, Kyphoscoliosis, Proximal amyotrophy |
OMIM:271200 |
Alpers-Huttenlocher Syndrome |
|
Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa... |
ORPHA:726 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Epicanthus, Bradycardia, Scoliosis |
OMIM:616276 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Skeletal muscle atrophy, Kyphoscoliosis, Arterial rupture, Microcornea, Myopathy, Bruising suscep... |
ORPHA:300179 |
Muscular Dystrophy, Congenital, 1B |
|
Facial palsy, Spinal rigidity, Achilles tendon contracture, Generalized muscle hypertrophy, Pecto... |
OMIM:604801 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... |
ORPHA:399058 |
Sandhoff Disease, Adult Form |
|
Muscle fiber atrophy, Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Dysphagia |
ORPHA:309169 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... |
ORPHA:101016 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Distal lower limb amyotrophy, Incoordination, Hand muscle weakness, Tremor, Paraparesis, Achilles... |
OMIM:302800 |
Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
Parkinson-Dementia Syndrome |
|
Parkinsonism, Kyphoscoliosis, Tremor, Rigidity, Abnormal pyramidal sign |
OMIM:260540 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Facial palsy, Flexion contracture, Dysphagia, Shoulder girdle muscle weakness, Myalgia, Muscular ... |
OMIM:603511 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Ankle flexion contracture, Limb-gi... |
OMIM:613818 |
Waardenburg Syndrome Type 3 |
|
Telecanthus, Camptodactyly of finger, Atelectasis, Spastic paraplegia, Blepharophimosis, Acrocyan... |
ORPHA:896 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Rigidity, Death in infancy, Hypertonia, Muscular dystrophy |
OMIM:613869 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Cataract, Chronic mucocutaneous candidiasis, Abnormal left ventricular fun... |
ORPHA:36913 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Facial palsy, Quadriceps muscle atrophy, Calf muscle hypertrophy, Shoulder girdle muscle weakness... |
OMIM:611307 |
Oculopharyngodistal Myopathy 2 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... |
OMIM:618940 |
Congenital Myopathy 22A, Classic |
|
Thoracic scoliosis, Synophrys, Ragged-red muscle fibers, Generalized amyotrophy, Neonatal death, ... |
OMIM:620351 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapy... |
ORPHA:71277 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Death in ado... |
OMIM:612158 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Death in infancy, Corneal opacity, Dilated cardiomyopathy, Flexion contracture, Developmental cat... |
OMIM:618815 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Dysphagia, Weakness of facia... |
OMIM:617069 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic sinusitis, Bronchiectasis |
OMIM:253240 |
Myopathy, Centronuclear, 2 |
|
Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, ... |
OMIM:255200 |
Spastic Paraparesis-Deafness Syndrome |
|
Cataract, Ataxia, Impaired pain sensation, Hemiplegia/hemiparesis, Spastic paraparesis |
ORPHA:2815 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca... |
ORPHA:206559 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis, Low-output congestive heart failure, Myopathy, Hypertrophic cardiomyopathy, Failure to ... |
ORPHA:91130 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Facial hypotonia, Ataxia, Kyphoscoliosis, Short neck, Tremor, Parkinsonism, Flexi... |
OMIM:300055 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Reduced subcutaneous adipose tissue, Recurrent respiratory infections, Epicanthus, Decreased musc... |
ORPHA:3041 |
Congenital Myopathy 23 |
|
Skeletal muscle atrophy, Scapular winging, Kyphoscoliosis, Flexion contracture, Facial diplegia, ... |
OMIM:609285 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy |
|
Muscular dystrophy, Gait ataxia |
OMIM:253590 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
X-Linked Centronuclear Myopathy |
|
Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Weakness of... |
ORPHA:596 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Chronic sinusitis, Recurrent bronchitis, Otitis media |
OMIM:300455 |
Myopathy, Myofibrillar, 8 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contracture, Joint ... |
OMIM:617258 |
Allan-Herndon-Dudley Syndrome |
|
Skeletal muscle atrophy, Ataxia, Small for gestational age, Kyphoscoliosis, Failure to thrive in ... |
ORPHA:59 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Poor fine motor coordination, Sick sinus syndrome, Bradycardia |
OMIM:617182 |
Bronchogenic Cyst |
|
Back pain, Abnormality of the cervical spine, Abnormal pulmonary thoracic imaging finding, Pulmon... |
ORPHA:2357 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... |
OMIM:612736 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Urinary incontinence, Centrally nucleated skeletal muscl... |
ORPHA:169189 |
Spinal Arteriovenous Metameric Syndrome |
|
Angiokeratoma, Kyphoscoliosis, Congestive heart failure, Paraparesis, Abnormality of the vertebra... |
ORPHA:53721 |
Long Qt Syndrome 12 |
|
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes |
OMIM:612955 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
Desminopathy |
|
Thoracic kyphoscoliosis, Supraventricular arrhythmia, Sudden cardiac death, Spinal rigidity, Cong... |
ORPHA:98909 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur... |
OMIM:620068 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Skin rash, Maculopapular exanthema, Heart block, Dilated cardiomyopathy, A... |
ORPHA:398124 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Hypertrophic cardiomyopathy, Bradycardia, Spasticity |
OMIM:616277 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Short stature, Distal amyotrophy, Type 1 muscle fiber predominance, Increased va... |
OMIM:619042 |
Marinesco-Sjogren Syndrome |
|
Skeletal muscle atrophy, Short stature, Centrally nucleated skeletal muscle fibers, Flexion contr... |
OMIM:248800 |
Primary Angiitis Of The Central Nervous System |
|
Cerebral vasculitis, Transient ischemic attack, Parkinsonism, Ataxia, Paralysis, Paraparesis, Int... |
ORPHA:140989 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Recurrent respiratory infections, Internally nucleated skeletal muscle f... |
ORPHA:98905 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis, Cataract, Congenital muscular dystrophy, Ptosis |
ORPHA:1875 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... |
ORPHA:536516 |
Benign Samaritan Congenital Myopathy |
|
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers |
ORPHA:324581 |
Facioscapulohumeral Muscular Dystrophy 2, Digenic |
|
Scapular winging, Facial palsy, Pelvic girdle muscle weakness, Foot dorsiflexor weakness, Scapulo... |
OMIM:158901 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Kyphoscoliosis, Spastic paraplegia, Spastic tetraplegia, Spasticity, Joint contracture |
OMIM:617977 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Atrial Standstill 1 |
|
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... |
OMIM:108770 |
Lipodystrophy, Familial Partial, Type 6 |
|
Skeletal muscle atrophy, Lumbar hyperlordosis, Hypertension, Myopathy, Abdominal obesity, Muscula... |
OMIM:615980 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Lower limb spasticity, Kyphoscoliosis, Flexion contracture, Babinski sign, Spastic paraplegia, Dy... |
OMIM:275900 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Kyphoscoliosis, Upper limb postural tremor, Distal sensory impairment, Gait ataxia, Distal amyotr... |
OMIM:180800 |
Oculopharyngeal Muscular Dystrophy |
|
Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology |
ORPHA:270 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Skeletal muscle atrophy, Vertebral fusion, Facial palsy, Elbow contracture, Hyperlordosis, Kyphos... |
OMIM:606612 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Death in infancy, Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary... |
OMIM:614096 |
Intellectual Developmental Disorder, X-Linked 19 |
|
Small for gestational age, Scoliosis, Kyphoscoliosis |
OMIM:300844 |
Myopathy, Distal, 3 |
|
Clumsiness, Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contractur... |
OMIM:610099 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca... |
OMIM:608099 |
Jervell And Lange-Nielsen Syndrome |
|
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation |
ORPHA:90647 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Skeletal muscle atrophy, Scapular winging, Facial palsy, Retinal telangiectasia, Calf muscle hype... |
OMIM:158900 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Ataxia, Clonus, Bilateral ptosis, Ragged-red muscle fibers, Abnormal pyr... |
OMIM:616479 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Lumbar hyperlordosis, Skeletal muscle atrophy, Flexion contracture, Muscular dystrophy |
OMIM:613723 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Kyphoscoliosis, Distal sensory impairment, Upper limb muscle weakness, Distal amyotrophy, Foot do... |
OMIM:605588 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Ataxia, Ankle flexion contracture, Tremor, Knee flexion contracture, Telangiectasia, Muscular dys... |
OMIM:608799 |
Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Spinal rigid... |
ORPHA:324604 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Abnormal pulmonary interstitial mo... |
ORPHA:330001 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cataract, Parkinsonism, Ragged-red muscle fibers, Limb muscle weakness, Sensory ataxia, EMG: myop... |
OMIM:609286 |
Miyoshi Muscular Dystrophy 3 |
|
Quadriceps muscle atrophy, Quadriceps muscle weakness, Calf muscle hypertrophy, Muscular dystroph... |
OMIM:613319 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media, Failure to thrive secondar... |
OMIM:601457 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Facial palsy, Achilles tendon contracture, Babinski sign, Elbow flexion contracture, Skeletal mus... |
OMIM:608840 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
Perching Syndrome |
|
Joint contracture, Cyanosis, Scoliosis, Camptodactyly |
OMIM:617055 |
Nemaline Myopathy 5C, Autosomal Dominant |
|
Skeletal muscle atrophy, Scapular winging, Slender build, Quadriceps muscle weakness, Achilles te... |
OMIM:620389 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Distal lower limb amyotrophy, Somatic sensory dysfunction, Hand muscle weakness, Tremor, Intrinsi... |
ORPHA:101077 |
Whistling Face Syndrome, Recessive Form |
|
Telecanthus, Epicanthus, Shoulder flexion contracture, Kyphoscoliosis, Short neck, Elbow flexion ... |
OMIM:277720 |
Leukodystrophy, Hypomyelinating, 3 |
|
Appendicular spasticity, Death in infancy, Kyphoscoliosis, Abnormal pyramidal sign, Spastic parap... |
OMIM:260600 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
Exercise intolerance, EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy |
OMIM:609283 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Ptosis, Lower limb spasticity, Ataxia, Paraparesis, Oromotor apraxia, Clumsiness, Upslanted palpe... |
OMIM:617854 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Cerebral palsy, Skin rash, Ataxia, Hemiplegia/hemiparesis, Angioedema, Emphysema, U... |
ORPHA:36412 |
Brugada Syndrome 1 |
|
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... |
OMIM:601144 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Dilated cardiomyopathy, A... |
OMIM:607155 |
Ciliary Dyskinesia, Primary, 21 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Chronic sinusitis |
OMIM:615294 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Recurrent otitis media, Recur... |
OMIM:616726 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... |
OMIM:606693 |
Cardiomyopathy, Dilated, 1Bb |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:612877 |
Nathalie Syndrome |
|
Abnormal EKG, Cataract, Skeletal muscle atrophy |
OMIM:255990 |
Maternal Uniparental Disomy Of Chromosome 9 |
|
Kyphoscoliosis, Short neck, Hamstring contractures, Failure to thrive, Abnormal vertebral morphology |
ORPHA:96183 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Ragged-red muscle fibers... |
OMIM:160500 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Morning myoclonic jerks, Bradycardia |
ORPHA:2898 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia |
ORPHA:1479 |
Cln3 Disease |
|
Cataract, Acne, Ataxia, Extrapyramidal muscular rigidity, Bradykinesia, T-wave inversion, Bradyca... |
ORPHA:228346 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Chronic otitis media, Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:619466 |
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
|
Decreased muscle mass, Cataract, Kyphoscoliosis, Atlantoaxial abnormality, Downslanted palpebral ... |
ORPHA:3433 |
Amyotrophic Lateral Sclerosis 21 |
|
Centrally nucleated skeletal muscle fibers, Hand muscle weakness, Shoulder girdle muscle weakness... |
OMIM:606070 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Facial palsy, Action tremor, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sig... |
OMIM:607483 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy |
OMIM:159050 |
Merrf |
|
Myopathy, Ragged-red muscle fibers, Short stature |
ORPHA:551 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Hyperlordosis, Flexion contrac... |
OMIM:611588 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Death in infancy, Clonus, Rigidity, Babinski sign, Hypertonia, Bradycardia, Myoclonic spasms, Joi... |
OMIM:614498 |
Proximal Myopathy With Extrapyramidal Signs |
|
Increased variability in muscle fiber diameter, Central core regions in muscle fibers, Centrally ... |
ORPHA:401768 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Decreased muscle mass, Decreased muscle glycogen content, ST segment elevation, Ventricular tachy... |
ORPHA:263297 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... |
OMIM:614954 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Spasticity, Hypertrophic cardiomyopathy, Bradycardia, Pleural effusion... |
OMIM:614702 |
Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios... |
OMIM:222600 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Left ventricular hypertrophy, Congestive heart failure, Failure to thrive, Bradycardia |
OMIM:619048 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Recurrent respiratory infections, Ataxia, Ground-glass opacification, Atelectasis, Pulmonary infi... |
OMIM:610978 |
Miyoshi Muscular Dystrophy 1 |
|
Distal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Deposits immunoreactive to bet... |
OMIM:254130 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Scapular winging, Myositis, Facial palsy, Flexion contracture, Proximal amyotrophy, Clumsiness, M... |
OMIM:253600 |
Lipoyltransferase 1 Deficiency |
|
Death in infancy, Spastic tetraparesis, Abnormality of extrapyramidal motor function, Bradycardia... |
OMIM:616299 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Prolonged QT interval, Abnormal EKG, Incoordination, Ataxia, Acute rhabdomyolysis, Clonus, Involu... |
ORPHA:480864 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Back pain, Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring cont... |
OMIM:300696 |
Glycogen Storage Disease Xv |
|
Scapular winging, ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachyca... |
OMIM:613507 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,... |
OMIM:604169 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Slender build, Spinal rigidity, Kyphosis, ... |
OMIM:254090 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Death in infancy, Recurrent respiratory infections, Vertebral fusion, Block vertebrae,... |
OMIM:277300 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy, Kypho... |
OMIM:607855 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo... |
ORPHA:98912 |
Juvenile Temporal Arteritis |
|
Vasculitis, Conjunctivitis, Allergic rhinitis, Cerebral ischemia |
ORPHA:26137 |
Hyperekplexia 4 |
|
Kyphoscoliosis, Flexion contracture, Hypertonia, Distal arthrogryposis, Myoclonus, Camptodactyly |
OMIM:618011 |
Gitelman Syndrome |
|
Prolonged QT interval, Paralysis, Raynaud phenomenon, Rhabdomyolysis, Gout, Low-to-normal blood p... |
ORPHA:358 |
Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Centrally nucleated skeletal muscle fibers, Night sweats, Intrinsic hand muscle atrophy, Dysphagi... |
OMIM:619574 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Absent muscle fiber merosin, Facial palsy, Hyperlordosis, Atelectasis, Flexion contract... |
ORPHA:258 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14 |
|
Hypoglycosylation of alpha-dystroglycan, Cataract, Ataxia, Muscular dystrophy |
OMIM:615350 |
Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Failure to thrive, Conjunctivitis, Chronic oral candidiasis |
OMIM:616740 |
Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dist... |
OMIM:619473 |
Developmental And Epileptic Encephalopathy 101 |
|
Limb joint contracture, Opisthotonus, Third degree atrioventricular block, Myoclonus, Bradycardia |
OMIM:619814 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormal pulmonary thoracic imaging finding, Atelectasis, Hypersensitivity pneumonitis, Atopic de... |
ORPHA:2902 |
Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... |
ORPHA:488650 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cataract, Prolonged QRS complex, Cyanosis, Left axis deviation, Congestive heart failure, ST segm... |
OMIM:261740 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Abnormal muscle fiber morphology, Tremor, Paralysis, Rhabdomyolysis, Short... |
ORPHA:79102 |
Dermatitis, Atopic |
|
Keratoconus, Cataract, Recurrent skin infections, Eczema, Allergic rhinitis, Atopic dermatitis, F... |
OMIM:603165 |
Brown-Vialetto-Van Laere Syndrome 2 |
|
Ataxia, Facial palsy, Kyphoscoliosis, Clumsiness, Generalized amyotrophy, Scoliosis, Tongue fasci... |
OMIM:614707 |
Avian Influenza |
|
Miscarriage, Pneumonia, Ground-glass opacification, Congestive heart failure, Rhabdomyolysis, Pne... |
ORPHA:454836 |
Ichthyosis--Cheek--Eyebrow Syndrome |
|
Kyphoscoliosis, Sparse lateral eyebrow |
OMIM:146720 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:615872 |
Marinesco-Sjögren Syndrome |
|
Skeletal muscle atrophy, Cataract, Ataxia, Rigidity, Myopathy, Hypertonia, Muscular dystrophy, Sc... |
ORPHA:559 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Urticaria, Arthritis, Conjunctivitis |
OMIM:617772 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Large for gestational age, Abnormal left vent... |
ORPHA:45452 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hypoglycosylation of alpha-dystroglycan, Cataract, Camptodactyly of finger, Dilated cardiomyopath... |
ORPHA:272 |
Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Slender build, Thenar muscle atrophy, Fat... |
OMIM:256030 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ataxia, Cardiac arrest, Acute rhabdomyolysis, Clonus, Rhabdomyolysis, Ventricular tachycardia, Po... |
OMIM:616878 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Autophagic vacuoles |
OMIM:609500 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Gastritis, Cyanosis, Facial palsy... |
ORPHA:31826 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Thoracic kyphoscoliosis, Cyanosis, Facial palsy, Triceps weakness, Weakn... |
ORPHA:98913 |
Bethlem Myopathy |
|
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... |
ORPHA:610 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Skeletal muscle atrophy, Parkinsonism, Paraparesis, Tetraparesis, Extrapyramidal dyskinesia, Apraxia |
OMIM:105550 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Epicanthus, Prominent superficial veins, Small for gestational age, Kinetic tremor, Kyphoscoliosi... |
OMIM:616817 |
Zebra Body Myopathy |
|
Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle muscular dystr... |
ORPHA:97240 |
Glutamine Deficiency, Congenital |
|
Recurrent respiratory infections, Erythema, Flexion contracture, Bradycardia, Camptodactyly, Neon... |
OMIM:610015 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
Congenital Myopathy 6 With Ophthalmoplegia |
|
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ... |
OMIM:605637 |
Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
Recurrent Respiratory Papillomatosis |
|
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... |
ORPHA:60032 |
Creatine Phosphokinase, Elevated Serum |
|
Fatigue, Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Myalgia, Muscular dys... |
OMIM:123320 |
Cocaine Intoxication |
|
Prolonged QRS complex, Myocardial infarction, Tremor, Tubulointerstitial nephritis, Colitis, Hypo... |
ORPHA:90068 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Ataxia, Paraparesis, Choreoathetosis, Cardiomyopathy, Tetraparesis, Pancreatitis |
ORPHA:27 |
Charcot-Marie-Tooth Disease Type 4D |
|
Somatic sensory dysfunction, Postural tremor, Kyphoscoliosis, Upper limb amyotrophy, Distal senso... |
ORPHA:99950 |
Ck Syndrome |
|
Epicanthus, Lumbar hyperlordosis, Kyphoscoliosis, Almond-shaped palpebral fissure, Upslanted palp... |
ORPHA:251383 |
Brachyolmia Type 1, Toledo Type |
|
Back pain, Kyphoscoliosis, Short neck, Irregular vertebral endplates, Squared-off platyspondyly, ... |
OMIM:271630 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Death in infancy, Failure to thrive, Nonspecific interstitial pneumonia, Cyanosis, Crazy paving p... |
OMIM:610921 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 |
|
Calf muscle hypertrophy, Scapular winging, Muscular dystrophy, Proximal amyotrophy |
OMIM:601287 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Cyanosis, Ground-glass opacification, Desquamative interstitial pneumonitis, In... |
OMIM:265120 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Entropion, Ataxia, Keratitis, Telangiectasia, Choreoathetosis, Keratoconjunctivitis sic... |
OMIM:278730 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Prolonged QT interval, Scapular winging, Bidirectional ventricular ectopy, Periodic paralysis, Sy... |
OMIM:170390 |
Myopathy, Centronuclear, 5 |
|
Hip contracture, Weakness of facial musculature, Centrally nucleated skeletal muscle fibers |
OMIM:615959 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Kyphoscoliosis, Flexion contracture, Developmental cataract, Upslanted palpebral fissure, Coronal... |
OMIM:215100 |
Foxg1 Syndrome |
|
Kyphoscoliosis, Choreoathetosis, Hyperkinetic movements, Myoclonus, Scoliosis, Decreased body wei... |
ORPHA:561854 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Hypertonia, Decreased level of coenzyme Q10 in skeletal muscle, Bra... |
OMIM:614654 |
Mitochondrial Myopathy, Infantile, Transient |
|
Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen... |
OMIM:500009 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Short neck, Spinal rigidity, Kyphosis, Hyperlordosis, Dilated cardiomyopathy, Flexion contracture... |
OMIM:300718 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Resting tremor, Parkinsonism, Kyphoscoliosis, Tremor, Congestive heart fai... |
ORPHA:3077 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... |
OMIM:115200 |
Lymphoid Interstitial Pneumonia |
|
Multiple pulmonary cysts, Skin rash, Eczema, Ground-glass opacification, Raynaud phenomenon, Resp... |
ORPHA:79128 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Hyperlordosis, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increase... |
OMIM:613157 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Faci... |
ORPHA:169186 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Abnormal pupil morphology, Arrhythmia |
ORPHA:2151 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Keratitis, Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber dia... |
OMIM:226670 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Cyanosis, Failure to thrive, Right ventricular fa... |
ORPHA:1329 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... |
OMIM:614022 |
Scholte Syndrome |
|
Reduced subcutaneous adipose tissue, Epicanthus, Kyphoscoliosis, Abnormal pyramidal sign, Upslant... |
OMIM:300977 |
Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Myositis, Skin rash, Maculopapular exanthema, Oligoarthritis, Conjun... |
OMIM:142680 |
Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno... |
OMIM:618654 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Kyphoscoliosis, Impaired distal vibration sensation, Distal sensory impairment, Sensory ataxia, D... |
OMIM:145900 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Short stature, Facial palsy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Decre... |
OMIM:300580 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers, Dysphagia |
OMIM:617070 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent otitis media, Recurrent respiratory infections, Conjunctivitis, Recurrent sinusitis |
OMIM:613493 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Cataract, Hyperlordosis, Chorea, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy, Tr... |
ORPHA:369840 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Spasticity, Cerebral palsy, Kyphoscoliosis |
OMIM:301107 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Left ventricular hypertrophy, Kyphoscoliosis, Kyphosis, Synophrys, Skeletal muscle hypertrophy, C... |
OMIM:300280 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Back pain, Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy... |
OMIM:167320 |
Spastic Paraparesis And Deafness |
|
Tremor, Cataract, Spastic paraparesis |
OMIM:312910 |
Adult-Onset Nemaline Myopathy |
|
Flexion contracture, Increased muscle lipid content, Neuromuscular dysphagia, Upper limb muscle w... |
ORPHA:171442 |
Glycogen Storage Disease Ixd |
|
Exercise intolerance, Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Q... |
OMIM:300559 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Spastic ataxia, Back pain, Somatic sensory dysfunction, Kyphoscoliosis, Rigidity, Abnormal pyrami... |
ORPHA:199354 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... |
ORPHA:99103 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Speech apraxia, Bundle branch block, Cataract, Facial hypotonia, First degree atrioventricular bl... |
ORPHA:589821 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... |
OMIM:616313 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12 |
|
Limb-girdle muscle weakness, Muscular dystrophy |
OMIM:616094 |
Cockayne Syndrome Type 2 |
|
Lower limb spasticity, Ataxia, Progeroid facial appearance, Kyphosis, Flexion contracture, Uveiti... |
ORPHA:90322 |
Congenital Myopathy 10A, Severe Variant |
|
Facial palsy, Camptodactyly of finger, Increased variability in muscle fiber diameter, Muscle fib... |
OMIM:614399 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
Proteus Syndrome |
|
Kyphoscoliosis, Spinal canal stenosis, Limbal dermoid, Downslanted palpebral fissures, Ptosis |
OMIM:176920 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Epicanthus, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin... |
ORPHA:33110 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract, Congenital muscular dystrophy |
OMIM:254000 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
Oculopharyngodistal Myopathy 4 |
|
Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ... |
OMIM:619790 |
Flynn-Aird Syndrome |
|
Cataract, Ataxia, Kyphoscoliosis |
OMIM:136300 |
Autosomal Dominant Brachyolmia |
|
Increased vertebral height, Platyspondyly, Kyphoscoliosis |
ORPHA:93304 |
Usmani-Riazuddin Syndrome, Autosomal Recessive |
|
Epicanthus, Lumbar scoliosis, Spasticity, Conjunctival hyperemia |
OMIM:619548 |
Xeroderma Pigmentosum, Complementation Group A |
|
Entropion, Ataxia, Keratitis, Telangiectasia, Choreoathetosis, Distal sensory impairment, Conjunc... |
OMIM:278700 |
Warburg Micro Syndrome 1 |
|
Kyphoscoliosis, Spastic diplegia, Developmental cataract, Microcornea, Failure to thrive, Ptosis |
OMIM:600118 |
Myopathy, Tubular Aggregate, 1 |
|
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Exercise-induced... |
OMIM:160565 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Congestive heart failure, Spastic tetraplegia, Kyphoscoliosis |
OMIM:300886 |
Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Ataxia, Abnormal atrioventricular conducti... |
ORPHA:3208 |
Orofaciodigital Syndrome Xi |
|
Hypoplasia of the odontoid process, Downslanted palpebral fissures, Kyphoscoliosis |
OMIM:612913 |
Farber Disease |
|
Skeletal muscle atrophy, Corneal opacity, Nodular pattern on pulmonary HRCT, Atelectasis, Parapar... |
ORPHA:333 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Beaking of vertebral bodies, Vertebral wedging, Platyspondyly, Kyphoscoliosis |
OMIM:616583 |
Proximal Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Multiple joint contractures, Recurrent infections due to aspiration, Qua... |
ORPHA:70 |
Loeffler Endocarditis |
|
Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail... |
ORPHA:75566 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Epicanthus, Ataxia, Kyphoscoliosis, Babinski sign, Macroglossia, Scoliosis, Camptodactyly, Spasti... |
OMIM:616354 |
Leukodystrophy, Hypomyelinating, 17 |
|
Death in infancy, Flexion contracture, Kyphoscoliosis |
OMIM:618006 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Tetraplegia/tetraparesis, Progressive spastic paraparesis, Babinski sign, Central retinal vessel ... |
ORPHA:506353 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Failure to thrive, Cataract, Small for gestational age, Kyphoscoliosis, Recurrent pneumonia, Flex... |
OMIM:214150 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Recurrent respiratory infections, Involuntary movements, Flexion contracture, Babinski sign, Spas... |
OMIM:618397 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... |
OMIM:617222 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... |
OMIM:613243 |
Gitelman Syndrome |
|
Prolonged QT interval, Ataxia, Paralysis, Rhabdomyolysis, Ventricular tachycardia, Paresthesia, P... |
OMIM:263800 |
Short Qt Syndrome 1 |
|
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... |
OMIM:609620 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Type 1 muscle fiber predo... |
OMIM:608340 |
Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrioventricular bl... |
OMIM:115197 |
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Myopathy, Scapulohumeral muscular dystrophy |
OMIM:160570 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Prolonged QT interval, Speech apraxia, Hypertonia, Poor hand-eye coordination, Spasticity, Failur... |
OMIM:300352 |
Congenital Myopathy 24 |
|
Scapular winging, Facial palsy, First degree atrioventricular block, Cardiomyopathy, Type 1 muscl... |
OMIM:617336 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, Atrioventricular block, Premature ventri... |
OMIM:212138 |
Lethal Congenital Contracture Syndrome 5 |
|
Congenital contracture, Flexion contracture, Small for gestational age, Centrally nucleated skele... |
OMIM:615368 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Tachycardia, Cyanosis, Small for gestational age, Cardiac shunt, Congestive heart failure, Left v... |
ORPHA:860 |
Pseudohypoparathyroidism Type 2 |
|
Prolonged QT interval, Calcinosis, Paresthesia, Myoclonic spasms |
ORPHA:94090 |
Dilated Cardiomyopathy With Ataxia |
|
Prolonged QT interval, Lower limb spasticity, Ataxia, Dilated cardiomyopathy, Generalized amyotro... |
ORPHA:66634 |
Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
|
Congenital muscular dystrophy, Muscular dystrophy |
OMIM:613151 |
Immunodeficiency, Common Variable, 2 |
|
Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusitis, Recurrent otitis media,... |
OMIM:240500 |
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant |
|
Muscular dystrophy, Proximal amyotrophy |
OMIM:612998 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Failure to thrive in infancy, Camptodactyly of finger, Kyphoscoliosis, Elbow flexion contracture,... |
OMIM:610758 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Abnormal lung morphol... |
ORPHA:47 |
High Altitude Pulmonary Edema |
|
Tachycardia, Cyanosis, Hypoxemia, Pulmonary opacity, Pulmonary edema |
ORPHA:330012 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... |
OMIM:618920 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Kyphoscoliosis, Distal sensory impairment, Distal amyotrophy, Limb muscle weakness, Foot dorsifle... |
OMIM:118220 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes... |
OMIM:616924 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Skeletal muscle atrophy, Tetraplegia, Opisthotonus, Hypertonia, Bradycardia, Pulmonary arterial h... |
OMIM:619272 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Acne, Kyphoscoliosis, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosis |
OMIM:612847 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Arrhythmia, Atrioventricular block, Weight loss |
ORPHA:85447 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Skeletal muscle atrophy, Camptodactyly of finger, Impaired pain sensation, Muscular dystrophy, Ap... |
ORPHA:2926 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Failure to thrive, Nonspecific interstitial pneumonia, Cyanosis, Spontaneous pneumothorax, Intral... |
OMIM:610913 |
Granulomatosis With Polyangiitis |
|
Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Localized pulmonary hemorrhage, ... |
OMIM:608710 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Hypertonia, Cyanotic episode, Myoclonus |
OMIM:610992 |
Muckle-Wells Syndrome |
|
Episcleritis, Skin rash, Camptodactyly of finger, Vasculitis, Uveitis, Urticaria, Arthritis, Conj... |
ORPHA:575 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Exercise intolerance, Ragged-red muscle fibers, Growth delay, Generalized amyotrophy, Dysphagia, ... |
OMIM:613561 |
Mast Syndrome |
|
Incoordination, Babinski sign, Spastic paraplegia, Athetosis, Dysdiadochokinesis, Hypertonia, Spa... |
OMIM:248900 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Fatigue, Ragged-red muscle fibers, Abdominal pain |
OMIM:616794 |
Poliomyelitis |
|
Skeletal muscle atrophy, Lower limb muscle weakness, Hypoplasia of the musculature, Paralysis, Pa... |
ORPHA:2912 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Skeletal muscle atrophy, Ataxia, Kyphoscoliosis |
OMIM:616684 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Death in infancy, Kyphoscoliosis, Tremor, Spasticity, Choreoathetosis, Joint contracture, Ptosis |
OMIM:617664 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent respiratory infections, Failure to thrive in infancy, Portal hypertension, Paraparesis,... |
ORPHA:79124 |
13Q12.3 Microdeletion Syndrome |
|
Recurrent respiratory infections, Congenital diaphragmatic hernia, Impaired pain sensation, Kypho... |
ORPHA:412035 |
Familial Cold Urticaria |
|
Dysesthesia, Erythema, Urticaria, Arthritis, Conjunctivitis |
ORPHA:47045 |
Agel Amyloidosis |
|
Cataract, Ataxia, Facial palsy, Respiratory tract infection, Bilateral ptosis, Bruising susceptib... |
ORPHA:85448 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Hyperlordosis, Spinal ri... |
ORPHA:268 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Tricuspid regurgitation, Ground-glass opacification, Atelectasis, Bronchiectasis, Abnormal pulmon... |
OMIM:620233 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Corneal opacity, Atrial fibrillation... |
ORPHA:137675 |
Pseudohypoparathyroidism Type 1B |
|
Prolonged QT interval, Calcinosis, Cataract, Short neck, Conjunctivitis, Paresthesia, Myoclonic s... |
ORPHA:94089 |
Danon Disease |
|
Wolff-Parkinson-White syndrome, Myocardial necrosis, Congestive heart failure, Dilated cardiomyop... |
OMIM:300257 |
Central Core Disease |
|
Multiple joint contractures, Kyphoscoliosis, Myopathy, Type 1 muscle fiber predominance, Pelvic g... |
ORPHA:597 |
Adrenoleukodystrophy |
|
Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Truncal ataxia, Low... |
OMIM:300100 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Orthostatic hypotension, Ataxia, Parkinsonism, Overweight, Paraparesis, Generalized limb muscle a... |
ORPHA:2822 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Abnormality of the calf musculature, Proximal muscle weakness in lower l... |
ORPHA:59135 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusitis, Recurrent ot... |
OMIM:607594 |
Congenital Myopathy With Myasthenic-Like Onset |
|
Scapular winging, Multiple joint contractures, Rhabdomyolysis, Myopathy, Type 1 muscle fiber pred... |
ORPHA:424107 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex... |
ORPHA:1145 |
Schwartz-Jampel Syndrome, Type 1 |
|
Skeletal muscle atrophy, Cervical kyphosis, Short neck, Quadriceps muscle weakness, Microcornea, ... |
OMIM:255800 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Skeletal muscle atrophy, Epicanthus, Telecanthus, Sparse eyelashes, Progeroid facial appearance, ... |
ORPHA:75496 |
Peripartum Cardiomyopathy |
|
Tachycardia, Right ventricular failure, Myocarditis, Congestive heart failure, Dilated cardiomyop... |
ORPHA:563 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Delayed vertebral ossification, Thoracic kyphoscoliosis, Small for gestational age, Ky... |
OMIM:613330 |
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4 |
|
Muscular dystrophy |
OMIM:613152 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Distal amyotrophy, Kyphoscoliosis, Distal sensory impairment |
OMIM:607831 |
Lymphedema-Distichiasis Syndrome |
|
Cataract, Recurrent skin infections, Ectropion, Corneal erosion, Tubulointerstitial nephritis, Co... |
ORPHA:33001 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Skin rash, Jaundice, Conjunctivitis |
OMIM:603552 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Thoracolumbar kyphosis, Kyphoscoliosis |
OMIM:236660 |
Idiopathic Congenital Hypothyroidism |
|
Macroglossia, Bradycardia, Prolonged neonatal jaundice |
ORPHA:95717 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Conjunctivitis, Recurrent otitis media, Chronic sinusitis, Recurrent bronchitis |
OMIM:612692 |
Muscular Dystrophy, Congenital, With Rapid Progression |
|
Congenital muscular dystrophy |
OMIM:254100 |
Spinocerebellar Ataxia 40 |
|
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In... |
OMIM:616053 |
Congenital Disorder Of Glycosylation, Type Im |
|
Death in infancy, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebrow, Dilated... |
OMIM:610768 |
Tetanus |
|
Tachycardia, Tremor, Rigidity, Opisthotonus, Hypertension, Hypertonia, Bradycardia, Spasticity of... |
ORPHA:3299 |
Hereditary Methemoglobinemia |
|
Cyanosis, Small for gestational age, Spastic tetraplegia, Athetosis, Hypertonia, Spasticity |
ORPHA:621 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Transient ischemic attack, Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Hyp... |
ORPHA:365 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyelashes, Corneal dystrophy, Keratitis, Sparse eyebrow, Facial erythema, Folliculitis, Co... |
OMIM:308800 |
Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dy... |
ORPHA:273 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Facial palsy, Kyphoscoliosis, Flexion contracture, Increased variability in muscle fiber diameter... |
OMIM:616470 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Amyotrophy of ankle musculat... |
ORPHA:399086 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Exercise intolerance, Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal mus... |
OMIM:607459 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Cataract, Small for gestational age, Camptodactyly of finger, Kyphoscoliosis, Developmental catar... |
OMIM:610756 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ... |
OMIM:603689 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... |
ORPHA:90065 |
Atrial Septal Defect, Coronary Sinus Type |
|
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... |
ORPHA:99104 |
Neuralgic Amyotrophy |
|
Scapular winging, Acrocyanosis, Paresthesia |
ORPHA:2901 |
Bundle Branch Block, Familial Isolated Complete Right |
|
Right bundle branch block |
OMIM:113950 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Left ventricular hypertr... |
ORPHA:251274 |
Dysspondyloenchondromatosis |
|
Kyphoscoliosis, Osteoarthritis, Vertebral segmentation defect, Platyspondyly, Scoliosis, Anisospo... |
ORPHA:85198 |
X-Linked Adrenoleukodystrophy |
|
Somatic sensory dysfunction, Incoordination, Paralysis, Paraparesis, Progressive spastic parapare... |
ORPHA:43 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Kyphoscoliosis, Distal sensory impairment, Distal amyotrophy, Limb muscle weakness, Foot dorsifle... |
OMIM:118200 |
Lassa Fever |
|
Shock, Back pain, Miscarriage, Jaundice, Conjunctivitis |
ORPHA:99824 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Ataxia, Acute rhabdomyolysis, Kyphoscoliosis, Chorea, Babinski sign, Developmental cataract, Micr... |
OMIM:604168 |
Encephalopathy, Ethylmalonic |
|
Death in infancy, Failure to thrive, Ataxia, Abnormal retinal vascular morphology, Babinski sign,... |
OMIM:602473 |
Childhood-Onset Nemaline Myopathy |
|
Exercise intolerance, Scapular winging, Flexion contracture, Increased muscle lipid content, Gene... |
ORPHA:171439 |
Spinal Arachnoiditis |
|
Spastic paraparesis |
OMIM:182950 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Muscular Dystrophy, Mabry Type |
|
Late-onset muscular dystrophy |
OMIM:310000 |
Glossopharyngeal Neuralgia |
|
Dysesthesia, Jaw claudication, Vocal cord paralysis, Weight loss, Syncope, Bradycardia, Abnormali... |
ORPHA:221098 |
Microphthalmia, Syndromic 13 |
|
Microcornea, Iris coloboma, Kyphoscoliosis, Ptosis |
OMIM:300915 |
Aapoaiv Amyloidosis |
|
Back pain, Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac co... |
ORPHA:439232 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased variability in muscle fiber diameter, Short stature, Failure to thrive in infancy, Incr... |
OMIM:619065 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Distal amyotrophy, Kyphoscoliosis, Foot dorsiflexor weakness, Distal sensory impairment |
OMIM:604563 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Prolonged QTc interval, Malar rash, Serositis, Petechiae |
ORPHA:231111 |
Congenital Myopathy 14 |
|
Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... |
OMIM:618414 |
Primary Dystonia, Dyt4 Type |
|
Eunuchoid habitus, Torticollis, Involuntary movements, Kyphoscoliosis, Upper limb postural tremor... |
ORPHA:98805 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Rimmed ... |
OMIM:612937 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Myotubular Myopathy With Abnormal Genital Development |
|
Death in infancy, Centrally nucleated skeletal muscle fibers, Atelectasis, Myopathy, Neonatal death |
OMIM:300219 |
Short Qt Syndrome 7 |
|
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation |
OMIM:620231 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Myositis, Pericarditis, Palpebral edema, Skin r... |
ORPHA:93672 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Corneal opacity, Muscular dystrophy, Death in childhood, Left ventricular hypertrophy |
OMIM:613153 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Cataract, Sparse eyelashes, Sparse eyebrow, Keratitis, Facial erythema, Folliculitis, Conjunctivi... |
OMIM:612843 |
Familial Nasal Acilia |
|
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis, Chronic rhinitis, Chro... |
ORPHA:922 |
Spastic Ataxia 4, Autosomal Recessive |
|
Spastic ataxia, Babinski sign, Limb ataxia, Gait ataxia, Lower limb hypertonia, Upper limb hypert... |
OMIM:613672 |
Listeriosis |
|
Back pain, Tremor, Conjunctivitis, Cholecystitis, Infectious encephalitis, Ataxia, Pyelonephritis... |
ORPHA:533 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Epicanthus, Dorsocervical fat pad, Small for gestational age, Kyphoscoliosis, Short neck, Synophr... |
ORPHA:391408 |
Episodic Ataxia Type 1 |
|
Kyphoscoliosis, Poor coordination, Clumsiness, Choreoathetosis, Calf muscle hypertrophy, Hyperton... |
ORPHA:37612 |
Rift Valley Fever |
|
Back pain, Skin rash, Miscarriage, Paralysis, Hematemesis, Paraparesis, Jaundice, Hepatitis, Uvei... |
ORPHA:319251 |
Spastic Paraplegia 48, Autosomal Recessive |
|
Lower limb spasticity, Ataxia, Parkinsonism, Spastic paraplegia, Dysmetria, Spastic paraparesis, ... |
OMIM:613647 |
Cockayne Syndrome Type 1 |
|
Lower limb spasticity, Failure to thrive, Cataract, Foot joint contracture, Ataxia, Progeroid fac... |
ORPHA:90321 |
Acquired Methemoglobinemia |
|
Tachycardia, Cyanosis, Hypoxemia, Syncope, Palpitations, Arrhythmia |
ORPHA:464453 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Cataract, Lumbar hyperlor... |
ORPHA:370959 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Kyphoscoliosis, Hyperlordosis, Obesity, Coronal cleft vertebrae, Irregular verte... |
OMIM:618363 |
Zika Virus Disease |
|
Maculopapular exanthema, Skin rash, Subcutaneous hemorrhage, Miscarriage, Arthritis, Conjunctivit... |
ORPHA:448237 |
Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... |
OMIM:617114 |
Arthrogryposis, Distal, Type 2A |
|
Short neck, Knee flexion contracture, Spina bifida occulta, Wrist flexion contracture, Neck joint... |
OMIM:193700 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Muscular dystrophy |
OMIM:204730 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Myopathy, Ragged-red muscle fibers |
OMIM:545000 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Pericarditis, Myositis, Skin rash, Orchitis, Recurrent pharyngitis, Peritonitis, Vascu... |
ORPHA:32960 |
Spastic Paraplegia 75, Autosomal Recessive |
|
Distal lower limb amyotrophy, Impaired distal vibration sensation, Abnormal pyramidal sign, Babin... |
OMIM:616680 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recurrent upper ... |
OMIM:263000 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Tetraparesis, Pancreatitis, Kyphoscoliosis |
OMIM:618230 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Kn... |
ORPHA:75840 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Impaired vibratory sensation, Epicanthus, Tachycardia, Tremor, Retrobulbar optic neuritis, Hypoes... |
OMIM:619737 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Corneal opacity, Keratitis, Synophrys, Conjunctivitis, Recurrent otitis media, Long palpebral fis... |
OMIM:602562 |
Congenital Fibrinogen Deficiency |
|
Tachycardia, Cyanosis, Developmental cataract, Opisthotonus, Left ventricular hypertrophy, Bruisi... |
ORPHA:335 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Muscular dystrophy |
OMIM:614830 |
Richieri Costa-Da Silva Syndrome |
|
Decreased muscle mass, Diastasis recti, Kyphoscoliosis, Short neck, Vertebral wedging, Skeletal m... |
ORPHA:3101 |
Trichothiodystrophy |
|
Congenital exfoliative erythroderma, Multiple joint contractures, Abnormal pyramidal sign, Gait a... |
ORPHA:33364 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Facial palsy, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, Increased endomysial connecti... |
OMIM:602541 |
Poikiloderma With Neutropenia |
|
Skin rash, Sparse eyebrow, Recurrent bronchopulmonary infections, Recurrent pneumonia, Nasolacrim... |
OMIM:604173 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Failure to thrive, Kyphoscoliosis |
OMIM:614727 |
Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Weight loss, Arthritis, Keratoconj... |
OMIM:617321 |
Autosomal Dominant Spastic Paraplegia Type 73 |
|
Distal lower limb amyotrophy, Lower limb spasticity, Progressive spastic paraparesis, Babinski si... |
ORPHA:444099 |
Spastic Ataxia 5, Autosomal Recessive |
|
Spastic ataxia, Ataxia, Dysmetria, Distal amyotrophy, Dysdiadochokinesis, Myoclonus, Increased in... |
OMIM:614487 |
Tenorio Syndrome |
|
Telecanthus, Cerebral palsy, Raynaud phenomenon, Recurrent pneumonia, Clumsiness, Macroglossia, K... |
OMIM:616260 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Kyphoscoliosis |
OMIM:600384 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block |
OMIM:615616 |
Dpm1-Cdg |
|
Ataxia, Knee flexion contracture, Muscular dystrophy, Camptodactyly, Spasticity, Failure to thriv... |
ORPHA:79322 |
Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Kyphoscoliosis |
OMIM:117850 |
Lymphedema-Distichiasis Syndrome |
|
Ectropion, Kyphosis, Distichiasis, Conjunctivitis, Chylothorax, Recurrent corneal erosions, Arrhy... |
OMIM:153400 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Kyphoscoliosis, Impaired distal proprioception, Impaired distal vibration se... |
OMIM:601455 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Cyanosis, Abnormal atrioventricular conduction, Right ventricular failur... |
ORPHA:439 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Cyanosis, Congestive heart failure, Severely reduced left ventric... |
ORPHA:444013 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Lower limb spasticity, Involuntary movements, Babinski sign, Congenital foot contractures, Ankle ... |
ORPHA:565624 |
Tetrasomy 5P |
|
Recurrent respiratory infections, Epicanthus, Cyanosis, Short neck, Congestive heart failure, Apl... |
ORPHA:3309 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Cyanosis, Abnormal hemidiaphragm ... |
ORPHA:980 |
Oculodentodigital Dysplasia |
|
Epicanthus, Cataract, Ataxia, Paraparesis, Uveitis, Spasticity, Microcornea, Joint contracture of... |
OMIM:164200 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers |
OMIM:300816 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Limb joint contracture, Failure to thrive in infancy, Ankle flexion contracture, Short neck, Spas... |
ORPHA:284417 |
De Sanctis-Cacchione Syndrome |
|
Entropion, Ataxia, Keratitis, Babinski sign, Scissor gait, Telangiectasia, Choreoathetosis, Hyper... |
OMIM:278800 |
Rahman Syndrome |
|
Telecanthus, Kyphoscoliosis, Hypertonia, Astigmatism, Camptodactyly |
OMIM:617537 |
Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
Buerger Disease |
|
Acrocyanosis, Vasculitis, Paresthesia |
ORPHA:36258 |
Cerebrotendinous Xanthomatosis |
|
Abnormal eyelid morphology, Abnormal lung morphology, Abnormal pyramidal sign, Thoracic kyphosis,... |
ORPHA:909 |
Arachnoid Cyst |
|
Back pain, Ptosis, Facial palsy, Subarachnoid hemorrhage, Paraparesis, Slurred speech, Distal sen... |
ORPHA:2356 |
17Q24.2 Microdeletion Syndrome |
|
Prolonged QT interval, Failure to thrive in infancy, Short neck, Synophrys, Truncal obesity, Pulm... |
ORPHA:529962 |
Scorpion Envenomation |
|
Bundle branch block, Tremor, Prominent U wave, Hemifacial spasm, Ataxia, ST segment depression, M... |
ORPHA:466677 |
Arthrogryposis, Distal, Type 3 |
|
Epicanthus, Decreased muscle mass, Lumbar hyperlordosis, Camptodactyly of finger, Thoracolumbar s... |
OMIM:114300 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Restlessness, Ragged-red muscle fibers |
OMIM:615159 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Macroglossia, Large for gestational age, Bradycardia, Prolonged neonatal jaundice |
ORPHA:226313 |
Pseudohypoparathyroidism Type 1C |
|
Prolonged QT interval, Calcinosis, Cataract, Short neck, Obesity, Conjunctivitis, Paresthesia, My... |
ORPHA:79444 |
Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Limb muscle weakness, Myopathy, Type 1 muscle fiber predominance, Dysphagi... |
OMIM:603034 |
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Myopathy, Type 1 muscle fiber... |
OMIM:605355 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Osteoarthritis of the distal interphalangeal joint, Short neck, Knee osteoarthritis, T... |
ORPHA:93284 |
Acute Transverse Myelitis |
|
Impaired vibratory sensation, Back pain, Orthostatic hypotension, Somatic sensory dysfunction, Su... |
ORPHA:139417 |
Congenital Pulmonary Lymphangiectasia |
|
Cyanosis, Tricuspid regurgitation, Congestive heart failure, Pulmonic stenosis, Pulmonary arteria... |
ORPHA:2414 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Acrocyanosis, Hemiplegi... |
ORPHA:183 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Kyphoscoliosis, Congestive heart failure, Spastic tetrap... |
ORPHA:324410 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Babinski sign, Limb ataxia, Gait ataxia, Tortuosity of conjunctival vessels, Dysmetria, Fascicula... |
OMIM:613728 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Cataract, Kyphoscoliosis, Hand muscle weakness, Tremor, ... |
ORPHA:99956 |
Dpagt1-Cdg |
|
Prolonged QT interval, Ataxia, Tremor, Flexion contracture, Developmental cataract, Intracranial ... |
ORPHA:86309 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Cutis marmorata, Myocardial infarction, Ectopia lentis, Kyphoscoliosis, Lens subluxation, Scolios... |
OMIM:236200 |
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Babinski sign, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive gait ataxia, Upp... |
ORPHA:254343 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Skin rash, Uveitis, Urticaria, Arthritis, Conjunctivitis |
OMIM:120100 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Epicanthus, Cyanosis, Abnormal hemidiaphragm morphology, Pneumo... |
ORPHA:2257 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... |
OMIM:310440 |
Peroxisome Biogenesis Disorder 8B |
|
Lower limb spasticity, Cataract, Ataxia, Clonus, Dysesthesia, Rigidity, Babinski sign, Limb tremo... |
OMIM:614877 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Impaired vibratory sensation, Clonus, Poor coordination, Abnormal pyramidal sign, Spastic paraple... |
OMIM:238970 |
Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
Congenital Myasthenic Syndrome |
|
Neuropathic spinal arthropathy, Ptosis, Recurrent respiratory infections, Cyanosis, Ataxia, Kypho... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Neuropathic spinal arthropathy, Ptosis, Recurrent respiratory infections, Cyanosis, Ataxia, Kypho... |
ORPHA:98914 |
Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contracture, Ragged-red ... |
OMIM:620249 |
Pseudohypoparathyroidism Type 1A |
|
Prolonged QT interval, Calcinosis, Cataract, Involuntary movements, Band keratopathy, Short neck,... |
ORPHA:79443 |
Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Epicanthus, Bradycardia, Antecubital pterygium |
ORPHA:40366 |
Relapsing Polychondritis |
|
Episcleritis, Pericarditis, Cataract, Chondritis of pinna, Keratitis, Myocarditis, Atelectasis, E... |
ORPHA:728 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Limb joint contracture, Kyphoscolio... |
OMIM:612079 |
Metatropic Dysplasia |
|
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Flexion con... |
OMIM:156530 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Ptosis, Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Kyphoscoliosis, Pr... |
ORPHA:466722 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Recurrent respiratory infections, Epicanthus, Tricuspid regurgitation, Telecanthus, Tachycardia, ... |
ORPHA:505248 |
Antisynthetase Syndrome |
|
Aortic regurgitation, Recurrent respiratory infections, Myositis, Skin rash, Telangiectasia of th... |
ORPHA:81 |
Kid Syndrome |
|
Angular cheilitis, Posterior blepharitis, Recurrent cutaneous fungal infections, Knee flexion con... |
ORPHA:477 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... |
OMIM:615745 |
Lujo Hemorrhagic Fever |
|
Shock, Resting tremor, Skin rash, Maculopapular exanthema, Myocarditis, Fulminant hepatitis, Atel... |
ORPHA:319213 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Prolonged QT interval, Lower limb spasticity, Flexion contracture, Shallow orbits, Camptodactyly,... |
OMIM:620029 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Tricuspid regurgitation, Ataxia, Dysmetria, Right bundle branch block, Mitral regurgitation, Asti... |
OMIM:619576 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Synophrys, Kyphoscoliosis |
OMIM:615541 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Prominent superficial veins, Camptodactyly of finger, Kyphoscoliosis, Thenar muscle atrophy, Irre... |
OMIM:612350 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Kyphoscoliosis, Tremor, Rigidity,... |
ORPHA:99750 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent respiratory infections, Lumbar hyperlordosis, Pneumonia, Kyphoscoliosis, Raynaud phenom... |
OMIM:607944 |
Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Pulmonary edema, Diffuse alveolar hemorrhage, Right ventricular failure, Pulmonary capi... |
ORPHA:199241 |
D-Glyceric Aciduria |
|
Spastic tetraplegia, Opisthotonus, Myoclonus, Bradycardia, Spasticity, Failure to thrive |
OMIM:220120 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Fiber type grouping, Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle... |
OMIM:619903 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Ataxia, Lower limb muscle weakness, Dysmetria, Spastic dysarthria, Distal amyotrophy, Dysdiadocho... |
ORPHA:313772 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Recurrent respiratory infections, Osteomyelitis, Skin rash, Eczema, Atelectasis, Scoliosis, Chron... |
ORPHA:2314 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter |
ORPHA:1878 |
Myasthenic Syndrome, Congenital, 12 |
|
Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy |
OMIM:610542 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Intracranial hemorrhage, Inflammation of the large intestine, Conjunctivitis, Otitis m... |
ORPHA:906 |
Distal Myotilinopathy |
|
EMG: myopathic abnormalities, Distal amyotrophy, Multiple joint contractures, Abnormal muscle fib... |
ORPHA:98911 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Facial palsy, Limb muscle weakness, Type 1 muscle fiber predominance, Dysphagia, Arthrogryposis m... |
OMIM:161800 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Cachexia, Abdominal pain, Ragged-red muscle fibers, Weight loss, Slender build |
OMIM:613662 |
Shigellosis |
|
Failure to thrive in infancy, Pneumonia, Myocarditis, Peritonitis, Rhabdomyolysis, Uveitis, Ulcer... |
ORPHA:810 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Fatigue, Skeletal muscle atrophy, Exercise intolerance, Achilles tendon contracture, Ragged-red m... |
OMIM:615418 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Growth delay, Myopathy, Ragged-red muscle fibers |
OMIM:618242 |
Coffin-Siris Syndrome 6 |
|
Epicanthus, Kyphoscoliosis, Narrow palpebral fissure, Diaphragmatic eventration, Downslanted palp... |
OMIM:617808 |
Cardiomyopathy, Familial Hypertrophic, 2 |
|
Atrial fibrillation, Angina pectoris, Right bundle branch block, Reduced left ventricular ejectio... |
OMIM:115195 |
Developmental And Epileptic Encephalopathy 41 |
|
Kyphoscoliosis, Babinski sign, Flexion contracture, Tetraparesis, Spasticity |
OMIM:617105 |
Ethylmalonic Encephalopathy |
|
Ataxia, Abnormal pyramidal sign, Acrocyanosis, Abnormality of extrapyramidal motor function, Reti... |
ORPHA:51188 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Recurrent respiratory infections, Entropion, Myocardial infarction, ... |
ORPHA:36426 |
Igg4-Related Pachymeningitis |
|
Abnormality of the cervical spine, Somatic sensory dysfunction, Sinusitis, Low back pain, Lower l... |
ORPHA:449427 |
Geroderma Osteodysplasticum |
|
Beaking of vertebral bodies, Progeroid facial appearance, Kyphoscoliosis, Neonatal wrinkled skin ... |
OMIM:231070 |
Xeroderma Pigmentosum, Variant Type |
|
Entropion, Keratitis, Cutaneous telangiectasia, Conjunctivitis, Cutaneous photosensitivity, Ectro... |
OMIM:278750 |
Lyme Disease |
|
Atrioventricular block, Uveitis, Arthritis, Paresthesia, Arrhythmia, Infectious encephalitis |
ORPHA:91546 |
Pulmonary Arteriovenous Malformation |
|
Cyanosis, Transient ischemic attack, Epistaxis, Myocardial infarction, Heart murmur, Telangiectas... |
ORPHA:2038 |
Lacrimal Duct Defect |
|
Sinusitis, Dacryocystitis, Lacrimal duct atresia, Conjunctivitis, Dacryocystocele |
OMIM:149700 |
Acrodermatitis Enteropathica |
|
Abnormal eyebrow morphology, Failure to thrive, Abnormal eyelid morphology, Pustule, Corneal eros... |
ORPHA:37 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Hip contracture, Scapular winging, Ankle flexion contracture, Flexion contracture, Elbow flexion ... |
OMIM:617468 |
Crouzon Syndrome |
|
Abnormal sacrum morphology, Conjunctivitis, Iris coloboma, Ptosis |
ORPHA:207 |
Neu-Laxova Syndrome |
|
Skeletal muscle atrophy, Cataract, Abnormal nasolacrimal system morphology, Abnormal eyelid morph... |
ORPHA:2671 |
Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ... |
ORPHA:171433 |
Spastic Paraplegia Type 7 |
|
Ragged-red muscle fibers, Upper limb muscle weakness, Lower limb hypertonia, Attention deficit hy... |
ORPHA:99013 |
Xeroderma Pigmentosum, Complementation Group E |
|
Entropion, Keratitis, Telangiectasia, Conjunctivitis, Cutaneous photosensitivity, Ectropion |
OMIM:278740 |
Behçet Disease |
|
Myositis, Myocardial infarction, Pulmonary embolism, Abnormal pyramidal sign, Infectious encephal... |
ORPHA:117 |
Generalized Eruptive Keratoacanthoma |
|
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Ectropion |
ORPHA:411777 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Facial palsy, Limb muscle weakness, Left bundle branch block, Arrhythmia, Failure to thrive, Vent... |
OMIM:610131 |
African Trypanosomiasis |
|
Tremor, Impaired proprioception, Choreoathetosis, Conjunctivitis, Iritis, Abnormal EKG, Abnormal ... |
ORPHA:3385 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Skeletal muscle atrophy, Ataxia, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, ... |
OMIM:300232 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Congestive heart failure, Sp... |
ORPHA:85451 |
Kagami-Ogata Syndrome |
|
Diastasis recti, Kyphoscoliosis, Flexion contracture, Pulmonary hypoplasia, Pulmonic stenosis, Bl... |
OMIM:608149 |
Kawasaki Disease |
|
Pericarditis, Skin rash, Myocarditis, Congestive heart failure, Vasculitis, Jaundice, Hepatitis, ... |
ORPHA:2331 |
Respiratory Distress Syndrome In Premature Infants |
|
Atelectasis, Pulmonary edema |
OMIM:267450 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Arthrogryposis Multiplex Congenita 5 |
|
Death in infancy, Cardiac arrest, Kyphoscoliosis, Short neck, Flexion contracture, Elbow flexion ... |
OMIM:618947 |
3-Methylglutaconic Aciduria Type 3 |
|
Choreoathetosis, Ataxia, Spastic paraparesis |
ORPHA:67047 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening, Pulmonary situs ... |
ORPHA:244 |
Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Hand muscle atrophy, Intrinsic hand muscle atrophy, Upper limb muscle weakness, Dysphagia, Type 2... |
OMIM:601462 |
Lethal Congenital Contracture Syndrome 9 |
|
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Inc... |
OMIM:616503 |
Myotonic Dystrophy 2 |
|
Tachycardia, Posterior subcapsular cataract, Iridescent posterior subcapsular cataract, Premature... |
OMIM:602668 |
Spinocerebellar Ataxia Type 40 |
|
Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis, Intention tremor |
ORPHA:423275 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Torticollis, Multiple joint contractures, Congenital kyphoscoliosis, Repeated pneumothoraces, Ovo... |
ORPHA:536467 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Skeletal muscle hypertrophy, Vertebral wedging, Firm muscles, Kyphoscoliosis |
OMIM:255710 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter |
OMIM:302045 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Recurrent respiratory infections, Right axis deviation, Subarachn... |
OMIM:232300 |
Atrial Fibrillation, Familial, 11 |
|
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... |
OMIM:614049 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Recurrent respiratory infections, Atrophic gastritis, Pneumonia, Erythema nodosum, Recurrent pneu... |
OMIM:614700 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low... |
OMIM:613954 |
Sepsis In Premature Infants |
|
Tachycardia, Cyanosis, Small for gestational age, Jaundice, Enterocolitis, Bradycardia, Hypotensi... |
ORPHA:90051 |
Myopathy, Myofibrillar, 4 |
|
Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles, Muscle fiber splitting |
OMIM:609452 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w... |
ORPHA:353 |
Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Scapular winging, Myositis, Proximal muscle weakness in lower limbs, Myo... |
ORPHA:206569 |
Muckle-Wells Syndrome |
|
Conjunctival hyperemia, Conjunctivitis, Recurrent aphthous stomatitis, Maculopapular exanthema |
OMIM:191900 |
Trimethylaminuria |
|
Hypertension, Tachycardia, Recurrent pneumonia |
OMIM:602079 |
Emanuel Syndrome |
|
Recurrent respiratory infections, Sacral dimple, Multiple joint contractures, Hooded eyelid, Cong... |
ORPHA:96170 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... |
ORPHA:75565 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... |
ORPHA:404443 |
Nasolacrimal Duct Cyst |
|
Chronic irritative conjunctivitis, Abnormal lacrimal sac morphology, Dacryocystitis, Ectropion of... |
ORPHA:141083 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Air crescent sign, Colitis, Chemosis, Nephritis... |
ORPHA:73263 |
Atelosteogenesis, Type Ii |
|
Death in infancy, Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral s... |
OMIM:256050 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Aortic regurgitation, Tricuspid regurgitation, Thoracolumbar scoliosis, Poor wound healing, Kypho... |
ORPHA:230851 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Failure to thrive, Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
ORPHA:71212 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia, Esopha... |
ORPHA:3348 |
Abetalipoproteinemia |
|
Impaired vibratory sensation, Failure to thrive, Ataxia, Kyphoscoliosis, Impaired distal proprioc... |
ORPHA:14 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Conjunctivitis, Cholecystitis, Morbillif... |
ORPHA:99827 |
Illum Syndrome |
|
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia |
OMIM:208155 |
Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Kyphosis, Atrioventricular b... |
ORPHA:392 |
Friedreich Ataxia |
|
Impaired vibratory sensation, Abnormal EKG, Ataxia, Congestive heart failure, Babinski sign, Impa... |
OMIM:229300 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Arthritis, ... |
OMIM:184100 |
Clouston Syndrome |
|
Cataract, Sparse eyelashes, Sparse eyebrow, Ectodermal dysplasia, Conjunctivitis, Blepharitis |
OMIM:129500 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Highly arched eyebrow, Babinski sign, Scissor gait, Spastic tetraplegia, Dysmetria, Facial dipleg... |
OMIM:619121 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Ataxia, Rhabdomyolysis, ST segment depression, Hypotension, Hypocapnia, Ab... |
ORPHA:466650 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... |
OMIM:608751 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Recurrent respiratory infections, Entropion, Sudden cardiac death, A... |
ORPHA:537 |
Infant Botulism |
|
Ptosis, Cerebral palsy, Cardiac arrest, Hypertension, Keratoconjunctivitis sicca, Hypotension, Ch... |
ORPHA:178478 |
Familial Thyroid Dyshormonogenesis |
|
Macroglossia, Bradycardia, Prolonged neonatal jaundice |
ORPHA:95716 |
Noonan Syndrome With Multiple Lentigines |
|
Bundle branch block, Scapular winging, Myocardial infarction, Aplasia/Hypoplasia of the abdominal... |
ORPHA:500 |
Cardiac Valvular Dysplasia 2 |
|
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, L... |
OMIM:620067 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Pain, Ragged-red muscle fibers, Dysphagia |
ORPHA:477774 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Unilateral ptosis, Cyanosis, Opisthotonus, Severe failure to thrive, Hypertonia, Pulmonic stenosi... |
ORPHA:3304 |
Contractural Arachnodactyly, Congenital |
|
Hip contracture, Congenital kyphoscoliosis, Kyphoscoliosis, Ectopia lentis, Short neck, Elbow fle... |
OMIM:121050 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Exercise intolerance, Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fib... |
ORPHA:254886 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
Reactive Arthritis |
|
Aortic regurgitation, Pericarditis, Osteomyelitis, Abnormal pleura morphology, Pustule, Enthesiti... |
ORPHA:29207 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Back pain, Scapular winging, Abnormality of the musculature of the lower limbs, Urinary incontine... |
ORPHA:329478 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Neuropathic spinal arthropathy, Telecanthus, Palpebral edema, Ataxia, Kyphoscoliosis, Babinski si... |
ORPHA:397709 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Scapular winging, Facial palsy, Generalized weakness of limb muscles, Limb-girdle muscle weakness... |
ORPHA:353327 |
Muscular Dystrophy, Barnes Type |
|
Myopathy, Muscular dystrophy |
OMIM:158800 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Reduced subcutaneous adipose tissue, Cataract, Entropion, Kyphoscoliosis, Congestive heart failur... |
OMIM:617403 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Dysphagia, Arthrogryposis multiplex... |
OMIM:608931 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Exercise-induced rhabdomyolysis, Decreased muscle mass, Growth delay, Viral infection-induced rha... |
ORPHA:57 |
Familial Dysautonomia |
|
Recurrent respiratory infections, Orthostatic hypotension, Tachycardia, Corneal opacity, Ataxia, ... |
ORPHA:1764 |
Mucopolysaccharidosis, Type Iiic |
|
Kyphoscoliosis, Synophrys, Recurrent upper respiratory tract infections, Ovoid thoracolumbar vert... |
OMIM:252930 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Cataract, Sparse eyelashes, Kyphos... |
ORPHA:35173 |
Combined Oxidative Phosphorylation Deficiency 49 |
|
Exercise intolerance, Ragged-red muscle fibers, Myalgia |
OMIM:619024 |
Monosomy 18P |
|
Epicanthus, Kyphoscoliosis, Short neck, Hypertension, Ptosis |
ORPHA:1598 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Distal amyotrophy, Kyphoscoliosis, Distal sensory impairment |
OMIM:214400 |
Hsd10 Disease, Infantile Type |
|
Cyanosis, Spastic tetraparesis, Poor coordination, Spastic diplegia, Choreoathetosis, Hyperkineti... |
ORPHA:391428 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cataract, Muscular dystrophy |
OMIM:615181 |
Pseudo-Torch Syndrome 2 |
|
Pleural effusion, Petechiae, Bradycardia, Cerebral hemorrhage |
OMIM:617397 |
Double Outlet Right Ventricle |
|
Tachycardia, Cyanosis, Heart murmur, Narrow palpebral fissure, Pulmonic stenosis, Pulmonary arter... |
ORPHA:3426 |
Xeroderma Pigmentosum, Complementation Group C |
|
Entropion, Keratitis, Telangiectasia, Conjunctivitis, Cutaneous photosensitivity, Ectropion |
OMIM:278720 |
De Barsy Syndrome |
|
Recurrent sinopulmonary infections, Epicanthus, Cataract, Corneal opacity, Decreased muscle mass,... |
ORPHA:2962 |
Benign Familial Infantile Epilepsy |
|
Hypertonia, Limb myoclonus, Cyanosis |
ORPHA:306 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Ragged-red muscle fibers, Motor tics |
OMIM:500003 |
Congenital Fiber-Type Disproportion Myopathy |
|
Flexion contracture, Knee flexion contracture, Aspiration pneumonia, Foot dorsiflexor weakness, H... |
ORPHA:2020 |
Autosomal Recessive Spastic Paraplegia Type 9B |
|
Skeletal muscle atrophy, Postural tremor, Kyphoscoliosis, Babinski sign, Tetraplegia, Spasticity,... |
ORPHA:447760 |
19P13.3 Microduplication Syndrome |
|
Epicanthus, Telecanthus, Kyphoscoliosis, Upslanted palpebral fissure, Pulmonary arterial hyperten... |
ORPHA:447980 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Abnormality of the cervical spine, Decreased muscle mass, Recurrent skin infections, Cervical kyp... |
ORPHA:2953 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Telecanthus, Epicanthus, Kyphoscoliosis, Recurrent upper respiratory tract infections, Camptodact... |
OMIM:612513 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
Warburg Micro Syndrome 3 |
|
Lower limb spasticity, Decreased muscle mass, Cataract, Kyphoscoliosis, Flexion contracture, Spas... |
OMIM:614222 |
Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Bundle branch block, Epicanthus, Death in infancy, Vertebral fusion, Campt... |
ORPHA:373 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Cataract, Slurred speech, Truncal ataxia, Dysmetria, Tortuosity of conjunctival vessels, Limb ata... |
ORPHA:284289 |
Eosinophilic Fasciitis |
|
Fasciitis, Myositis, Weight loss, Arthritis, Paresthesia, Muscular edema, Acrocyanosis |
ORPHA:3165 |
Myelopathy, Htlv-1-Associated |
|
Abnormal pyramidal sign, Spastic paraparesis |
OMIM:159580 |
Brugada Syndrome 4 |
|
Shortened QT interval, Syncope, Atrial fibrillation |
OMIM:611876 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
Hereditary Continuous Muscle Fiber Activity |
|
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance |
ORPHA:972 |
Prune1-Related Neurological Syndrome |
|
Cataract, Clonus, Spastic tetraparesis, Tongue fasciculations, Scoliosis, Spastic paraparesis, Hy... |
ORPHA:544469 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Myositis, Pericarditis, Skin rash, Gastritis, Myocarditis, Abnormal ... |
ORPHA:809 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... |
OMIM:108950 |
Fucosidosis |
|
Decreased muscle mass, Failure to thrive, Corneal opacity, Kyphosis, Abnormal pyramidal sign, Spa... |
ORPHA:349 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Ataxia, Tremor, Choreoathetosis, Lumbar kyphoscoliosis, Death in childhood, Ptosis |
OMIM:619422 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Congenital muscular dystrophy, Developmental cataract |
ORPHA:324416 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Cataract, Flexion contracture, Muscular dystrophy, Scoliosis |
OMIM:615249 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Absent eyelashes, Lacrimal duct atresia, Ankyloblepharon, Ectodermal dysplasia,... |
OMIM:106260 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Pain insensitivity, Cataract, Telangiectasia of the skin, Hyperlordosis, Hypoplasia of the odonto... |
OMIM:616007 |
Acrootoocular Syndrome |
|
Small hypothenar eminence, Epicanthus, Small for gestational age, Kyphoscoliosis, Small thenar em... |
ORPHA:2980 |
Erythermalgia, Primary |
|
Keratoconjunctivitis sicca, Palpitations |
OMIM:133020 |
Nocardiosis |
|
Pericarditis, Osteomyelitis, Pneumonia, Keratitis, Lymphadenitis, Dacryocystitis, Peritonitis, Pn... |
ORPHA:31204 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ptosis, Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraplegia, Hemiparesis, Cardiomyop... |
OMIM:105210 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Cardiomyopathy, Pulmonary hypoplasia, Pulmonary arterial hypertension |
OMIM:619003 |
Dravet Syndrome |
|
Incoordination, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fine motor coordina... |
ORPHA:33069 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Skeletal muscle atrophy, Flexion contracture, Premature graying of hair, Conjunctivitis, Epididym... |
OMIM:256040 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Exercise intolerance, Short stature, Ragged-red muscle fibers, Flexion contracture, Left ventricu... |
OMIM:252011 |
Kearns-Sayre Syndrome |
|
Ataxia, Ragged-red muscle fibers, Cardiomyopathy, Third degree atrioventricular block, Arrhythmia... |
OMIM:530000 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Death in infancy, Cataract, Spinal rigidity, Skeletal muscle hypertrophy, Macroglossia, Congenita... |
OMIM:613150 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Atelectasis, Bronchiectasis, Abnormal cornea morphology, Chronic rhinitis, Chronic oti... |
OMIM:244400 |
Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas... |
ORPHA:51636 |
Cryptogenic Organizing Pneumonia |
|
Cyanosis, Ground-glass opacification, Pneumothorax, Weight loss, Hypoxemia |
ORPHA:1302 |
Loeys-Dietz Syndrome 5 |
|
Reduced subcutaneous adipose tissue, Decreased muscle mass, Scapular winging, Failure to thrive i... |
OMIM:615582 |
Mucopolysaccharidosis, Type Vi |
|
Tricuspid regurgitation, Corneal opacity, Pneumonia, Lumbar hyperlordosis, Ovoid vertebral bodies... |
OMIM:253200 |
Holocarboxylase Synthetase Deficiency |
|
Ataxia, Eczema, Weight loss, Keratoconjunctivitis, Perioral eczema |
ORPHA:79242 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Cataract, Clonus, Tremor, Jaundice, Hypertonia, Bradycardia, Neonatal death, Fa... |
OMIM:617248 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Facial hypotonia, Respiratory tract infection, Left ventricular outflow tract obstruction, Shorte... |
ORPHA:308552 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elbow flexi... |
OMIM:618138 |
Trichinellosis |
|
Skin rash, Facial palsy, Babinski sign, Central retinal artery occlusion, Retinal hemorrhage, Ani... |
ORPHA:863 |
Neuroleptic Malignant Syndrome |
|
Tachycardia, Extrapyramidal muscular rigidity, Pulmonary embolism, Tremor, Chorea, Rhabdomyolysis... |
ORPHA:94093 |
Hypotonia-Cystinuria Syndrome |
|
Facial palsy, Postnatal growth retardation, Ragged-red muscle fibers, Failure to thrive, Polyphagia |
OMIM:606407 |
Lethal Congenital Contracture Syndrome 11 |
|
Flexion contracture, Elbow flexion contracture, Distal arthrogryposis, Pulmonary hypoplasia, Camp... |
OMIM:617194 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Limb ataxia, Gait ataxia, Dysmetria, Abnormality of extrapyramidal motor function, Scol... |
OMIM:610743 |
Osteogenesis Imperfecta, Type Xiii |
|
Skeletal muscle atrophy, Kyphoscoliosis, Platyspondyly, Long eyelashes, Scoliosis, Decreased body... |
OMIM:614856 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr... |
ORPHA:254864 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Posterolateral diaphragmatic hernia, Death in infancy, Progeroid facial appearance, Morgagni diap... |
OMIM:613177 |
Dystonia-Deafness Syndrome 1 |
|
Pseudobulbar paralysis, Cataract, Small for gestational age, Kyphoscoliosis |
OMIM:607371 |
Hsd10 Disease |
|
Ataxia, Tremor, Rigidity, Choreoathetosis, Myoclonus, Spastic paraparesis |
ORPHA:391417 |
Pulmonary Alveolar Microlithiasis |
|
Cyanosis, Bronchitis, Right ventricular failure, Increased pulmonary vascular resistance, Respira... |
ORPHA:60025 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Small for gestational age, Flexion contracture, Hypertension, Pulmonary hypoplasia, Left ventricu... |
OMIM:616733 |
Joint Laxity, Short Stature, And Myopia |
|
Cervical kyphosis, Iris coloboma, Kyphoscoliosis |
OMIM:617662 |
Progressive Pseudorheumatoid Dysplasia |
|
Camptodactyly of finger, Kyphoscoliosis, Osteoarthritis, Platyspondyly, Sclerotic vertebral endpl... |
OMIM:208230 |
Snakebite Envenomation |
|
Tachycardia, Epistaxis, Myocardial infarction, Paralysis, Angioedema, Erythema, Rhabdomyolysis, I... |
ORPHA:449285 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Distal lower limb amyotrophy, Impaired vibratory sensation, Thenar muscle atrophy, Babinski sign,... |
OMIM:500013 |
Necrotizing Enterocolitis |
|
Shock, Small for gestational age, Peritonitis, Bradycardia, Hypotension |
ORPHA:391673 |
Larsen-Like Syndrome, Lethal Type |
|
Neonatal death, Pulmonary insufficiency, Pulmonary hypoplasia |
OMIM:245650 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Cutis marmorata, Vasculitis, Arthritis, Keratoconju... |
ORPHA:91138 |
Congenital Myopathy 13 |
|
Skeletal muscle atrophy, Telecanthus, Hypercapnia, Kyphoscoliosis, Fatty replacement of skeletal ... |
OMIM:255995 |
Congenital Sialidosis Type 2 |
|
Abnormal EKG, Cataract, Corneal opacity, Ataxia, Respiratory tract infection, Dysmetria, Developm... |
ORPHA:93400 |
Mevalonic Aciduria |
|
Cataract, Skin rash, Ataxia, Kyphoscoliosis, Failure to thrive in infancy, Progressive cerebellar... |
OMIM:610377 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Generalized amyotrophy, EMG: myo... |
OMIM:609560 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Cataract, Corneal opacity, Corneal dystrophy, A... |
ORPHA:324 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Rhabdomyolysis, Weakness of facial musculature, Exercise-induced myalgia, Ragged-red muscle fibers |
OMIM:618416 |
Monosomy 18Q |
|
Epicanthus, Left-to-right shunt, Slender build, Kyphoscoliosis, Congestive heart failure, Poor co... |
ORPHA:1600 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Bradycardia, Tongue fasciculations |
OMIM:608800 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:615228 |
Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu... |
OMIM:224700 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Torticollis, Epicanthus, Thoracic scoliosis, Kyphoscoliosis, Bilateral ptosis, Sp... |
ORPHA:300570 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Cardiomyopathy, Failure to thrive, Muscular dystrophy |
ORPHA:88618 |
Amish Nemaline Myopathy |
|
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Type 1 muscle fiber predomina... |
ORPHA:98902 |
Chst3-Related Skeletal Dysplasia |
|
Highly arched eyebrow, Kyphoscoliosis, Sparse eyebrow, Flexion contracture, Abnormal form of the ... |
ORPHA:263463 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Spastic tetraplegia, Hypertonia, Ataxia, Pulmonary hypoplasia |
OMIM:618174 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Bilateral vocal cord paresis, Tachycardia, Erythema, Flexion contracture, Retinal hemorrhage, Cor... |
OMIM:614653 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial fibrillation, A... |
ORPHA:1677 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Ataxia, Peritonitis, Vasculitis, Erythema, Urticaria, Arthritis, Rec... |
ORPHA:343 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Facial palsy, Kyphoscoliosis, Short neck, Keratitis, Elbow flexion contracture, Opisthotonus, Cam... |
OMIM:272430 |
Alexander Disease Type Ii |
|
Ataxia, Rigidity, Palatal tremor, Babinski sign, Spasticity, Scoliosis, Spastic paraparesis, Limb... |
ORPHA:363722 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Fatigue, Exercise intolerance, Ragged-red muscle fibers, Chest pain, Myalgia, Lower limb pain |
ORPHA:1349 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Tachycardia, Crazy paving pattern, Failure to thrive in infancy, Acute infectious pneumonia, Hypo... |
ORPHA:264675 |
Paget Disease Of Bone 2, Early-Onset |
|
Sandwich appearance of vertebral bodies, Vertebral compression fracture, Paraparesis, Tetraparesis |
OMIM:602080 |
Chronic Pneumonitis Of Infancy |
|
Cyanosis, Ground-glass opacification, Hypoxemia, Diffuse reticular or finely nodular infiltration... |
ORPHA:91359 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Synophrys, Hypertonia, Thoracic kyphosis, Aspiration pneumonia, Death in chil... |
OMIM:602535 |
Atopic Keratoconjunctivitis |
|
Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s... |
ORPHA:163934 |
Lichen Planus Pemphigoides |
|
Conjunctivitis, Blepharitis |
ORPHA:254478 |
Myotonic Dystrophy 1 |
|
Atrial flutter, Cataract, Atrial fibrillation, First degree atrioventricular block, Facial diplegia |
OMIM:160900 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Small for gestational age, Kyphoscoliosis, Kyphosis, Premature osteoarthritis, Elbow flexion cont... |
ORPHA:93360 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal eyelid morphology, Uveitis, Conjunctivitis, Abnormal vertebral morphology, Absent eyebro... |
ORPHA:2273 |
Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Intrinsic hand muscle atrop... |
OMIM:620285 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Keratoconus, Gastrointestinal hemorrhage, Epicanthus, Poor wound healing, Kyphoscoliosis, Congest... |
OMIM:225400 |
Dermatomyositis |
|
Recurrent respiratory infections, Pericarditis, Telangiectasia of the skin, Myocardial infarction... |
ORPHA:221 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Skeletal muscle atrophy, Thoracic scoliosis, Ataxia, Abnormal pyramidal sign, Distal sensory impa... |
ORPHA:254930 |
Stiff-Person Syndrome |
|
Tachycardia, Lumbar hyperlordosis, Exaggerated startle response, Rigidity, Opisthotonus, Hyperten... |
OMIM:184850 |
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Abnormal muscle fiber protein expression |
ORPHA:330054 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Vertebral segmentation defect, Pulmonary hypoplasia, Abnormal lung lobation, Camptodactyly of finger |
ORPHA:2631 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Rhabdomyolysis, Ventricular tachycardia, Cardiomyopathy, Hypotension, Arrhythmia |
ORPHA:159 |
Lethal Congenital Contracture Syndrome 1 |
|
Skeletal muscle atrophy, Hypoplasia of the musculature, Pulmonary hypoplasia, Neonatal death, Art... |
OMIM:253310 |
Waardenburg Syndrome, Type 4A |
|
White eyelashes, White eyebrow, Ataxia, Blue irides, Premature graying of hair, Spastic parapares... |
OMIM:277580 |
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita |
|
Small for gestational age, Postnatal growth retardation, Arthrogryposis multiplex congenita, Bila... |
ORPHA:319332 |
Pulmonary Hypertension, Primary, 4 |
|
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... |
OMIM:615344 |
Cogan Syndrome |
|
Episcleritis, Aortic regurgitation, Keratitis, Vasculitis, Uveitis, Large vessel vasculitis, Scle... |
ORPHA:1467 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Thyroiditis, Uveitis, Keratoconjunctivitis sicca, Punctate keratitis, Failure to thrive, Corneal ... |
OMIM:617388 |
Reynolds Syndrome |
|
Skin rash, Telangiectasia of the skin, Jaundice, Arthritis, Keratoconjunctivitis sicca, Generaliz... |
ORPHA:779 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m... |
OMIM:616867 |
Arthrogryposis And Ectodermal Dysplasia |
|
Absent eyebrow, Skeletal muscle atrophy, Entropion, Trichiasis, Kyphoscoliosis, Narrow palpebral ... |
OMIM:601701 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Skeletal muscle atrophy, Exaggerated startle response, Cataract, Spinal rigidity, Dilated cardiom... |
OMIM:253800 |
Bilateral Perisylvian Polymicrogyria |
|
Lower limb spasticity, Paraparesis, Flexion contracture, Oromotor apraxia, Spastic tetraplegia, D... |
ORPHA:98889 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Periodic paralysis, Rhabdomyolysis, Weight loss, Palpitations |
OMIM:188580 |
Tricuspid Atresia |
|
Pulmonary artery atresia, Cyanosis |
ORPHA:1209 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thoracic scoliosis, Failure to thrive in infancy, Kyphoscoliosis, Short neck, Upslanted palpebral... |
OMIM:611209 |
Congenital Contractural Arachnodactyly |
|
Congenital kyphoscoliosis, Camptodactyly of finger, Ectopia lentis, Flexion contracture, Congenit... |
ORPHA:115 |
Autosomal Recessive Spastic Paraplegia Type 23 |
|
Spastic paraplegia, Spastic gait, Kyphoscoliosis |
ORPHA:101003 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Scapular winging, Progeroid facial appearance, Ectopia lenti... |
OMIM:616914 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Prolonged QT interval, Epicanthus, Tachycardia, Obesity, Scoliosis, Recurrent otitis media, Muscl... |
ORPHA:1772 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Hypertrophic cardiomyopathy, Small for gestational age, Bradycardia |
OMIM:618775 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Incoordination, Recurrent infections due to aspiration, Acr... |
OMIM:223900 |
Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,... |
ORPHA:206443 |
Nestor-Guillermo Progeria Syndrome |
|
Prominent superficial veins, Sparse eyelashes, Progeroid facial appearance, Sparse eyebrow, Flexi... |
OMIM:614008 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Keratoconus, Failure to thrive, Conjunctivitis, Erythroderma |
OMIM:242150 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Sinusitis, Skin rash, Flexion contracture, Arthritis, Panniculitis, Conjunctivitis, Fai... |
OMIM:617591 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Epicanthus, Kyphoscoliosis, Sparse eyebrow, Synophrys, Downslanted palpebral fissures |
OMIM:620075 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Cataract, Sparse eyelashes, Kyphoscoliosis, Short neck, Sparse eyebrow, Hemivertebrae, Punctate v... |
OMIM:302960 |
Encephalitis Lethargica |
|
Upper limb muscle weakness, Parkinsonism, Tremor, Bradycardia |
ORPHA:83600 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Spastic ataxia, Cerebral palsy, Spastic tetraparesis, Paraparesis, Failure to thrive |
OMIM:620358 |
Paroxysmal Hemicrania |
|
Palpebral edema, Flushing, Hypertension, Rhinitis, Conjunctival hyperemia, Ptosis |
ORPHA:157835 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Exercise intolerance, Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Increased ... |
OMIM:258450 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Abnormal morphology of musculature of pharynx, Abnormality of the calf musculature, Inflammatory ... |
ORPHA:600 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Incoordination, Ataxia, Tremor, Shortened PR interval, Obesity, A... |
OMIM:614947 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Cyanosis, Lung abscess, Pneumonia, Intraalveolar phospholipid a... |
OMIM:610910 |
Sjogren-Larsson Syndrome |
|
Opacification of the corneal epithelium, Flexion contracture, Astigmatism, Thoracic kyphosis, Spa... |
OMIM:270200 |
22Q11.2 Deletion Syndrome |
|
Abnormal eyelid morphology, Short neck, Abnormal lung lobation, Chronic otitis media, Acne, Atele... |
ORPHA:567 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Failure to thrive, Left-to-right shunt, Cyanosis, Congestive he... |
ORPHA:99050 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Nephritis, Infectious encephalitis, ... |
ORPHA:2552 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Rigidity, Spastic tetraplegia, Bradykinesia, Distal amyotrophy, Spastic paraparesis |
OMIM:615643 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Cerebral palsy, Spastic tetraplegia, Hypertension, Second degree atrioventricular block, Athetosi... |
OMIM:615474 |
Trichothiodystrophy 1, Photosensitive |
|
Death in infancy, Cataract, Small for gestational age, Flexion contracture, Telangiectasia, Micro... |
OMIM:601675 |
Pontocerebellar Hypoplasia, Type 10 |
|
Highly arched eyebrow, Short neck, Kyphoscoliosis, Synophrys, Long eyelashes, Long palpebral fiss... |
OMIM:615803 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Camptodactyly of finger, Kyphosis, Abnormal form of the vertebral bodies... |
ORPHA:2461 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Exercise intolerance, Ragged-red muscle fibers, Myopathy, Generalized amyotrophy, Dysphagia, Weak... |
ORPHA:352447 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... |
OMIM:609040 |
Ifap Syndrome 2 |
|
Cataract, Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca, Perior... |
OMIM:619016 |
Polymyositis |
|
Fatigue, Anorexia, Abnormal muscle fiber morphology, Abdominal pain, Weight loss, Arthralgia, Mya... |
ORPHA:732 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent ... |
OMIM:601495 |
Walker-Warburg Syndrome |
|
Skeletal muscle atrophy, Cataract, Corneal opacity, Microcornea, Muscular dystrophy, Aplasia/Hypo... |
ORPHA:899 |
Biotinidase Deficiency |
|
Skin rash, Ataxia, Conjunctivitis, Spastic paraparesis, Limb muscle weakness, Eczematoid dermatitis |
ORPHA:79241 |
Leukodystrophy, Hypomyelinating, 2 |
|
Ataxia, Facial palsy, Rigidity, Head titubation, Babinski sign, Choreoathetosis, Progressive spas... |
OMIM:608804 |
Congenital Myopathy 15 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Type 1 musc... |
OMIM:620161 |
Carpenter Syndrome |
|
Abnormal cornea morphology, Obesity, Kyphoscoliosis |
ORPHA:65759 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma |
OMIM:148200 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Corneal opacity, Pneumonia, Heart murmur, Acrocyanosis |
ORPHA:1867 |
Joubert Syndrome 18 |
|
Kyphoscoliosis, Camptodactyly |
OMIM:614815 |
Seckel Syndrome 8 |
|
Kyphoscoliosis |
OMIM:615807 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Arthrogryposis multiplex congenita, Unilateral wrist flexion contracture, Pulmonary hypoplasia, K... |
OMIM:616531 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Recurrent respiratory infections, Retinal hamartoma, Atelectasis, Pn... |
ORPHA:538 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Synophrys, Kyphoscoliosis, Scoliosis |
ORPHA:391307 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
OMIM:615524 |
Chromomycosis |
|
Keratitis, Abnormal lung morphology, Keratoconjunctivitis sicca, Eyelid retraction, Vascular skin... |
ORPHA:182 |
Short-Rib Thoracic Dysplasia 12 |
|
Epicanthus, Short neck, Atelectasis, Pulmonary hypoplasia, Neonatal death |
OMIM:269860 |
Tumoral Calcinosis, Normophosphatemic, Familial |
|
Calcinosis, Conjunctivitis |
OMIM:610455 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Cerebral palsy, Epistaxis, Spastic paraplegia, Intracranial hemorrhage, Hypertension, Second degr... |
ORPHA:369929 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Skeletal muscle atrophy, Death in infancy, Cyanosis, Ataxia, Ragged-red muscle fibers, Babinski s... |
OMIM:252010 |
Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Prominent superficial veins, Right bundle branch block, Shal... |
OMIM:619322 |
Crouzon Syndrome |
|
Keratitis, Abnormality of the cervical spine, Conjunctivitis, Shallow orbits |
OMIM:123500 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,... |
OMIM:307200 |
Primary Sjögren Syndrome |
|
Myositis, Chronic active hepatitis, Abnormal pulmonary thoracic imaging finding, Bronchitis, Chor... |
ORPHA:289390 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... |
OMIM:181405 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Cataract, Flexion contracture, Corneal scarring, Conjunctivitis, Fragile skin |
OMIM:226600 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Flexion contracture, Megalocornea, Abnormal vertebral morphology, Ir... |
ORPHA:536471 |
Chiari Malformation Type Ii |
|
Limb muscle weakness, Cyanosis, Ataxia, Opisthotonus |
OMIM:207950 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Marburg Hemorrhagic Fever |
|
Back pain, Uveitis, Conjunctival hyperemia, Internal hemorrhage, Maculopapular exanthema, Hypovol... |
ORPHA:99826 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Skeletal muscle atrophy, Epicanthus, Congenital kyphoscoliosis, Cerebral hemorrhage, Poor wound h... |
ORPHA:536545 |
Cap Myopathy |
|
Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Generalized amyotrophy, In... |
ORPHA:171881 |
Autosomal Recessive Ataxia, Beauce Type |
|
Impaired vibratory sensation, Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Kyphosis, B... |
ORPHA:88644 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Elbow flexion contracture, Platys... |
OMIM:184252 |
Neurofibromatosis, Familial Spinal |
|
Paraparesis, Lower limb muscle weakness, Lisch nodules |
OMIM:162210 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Epicanthus, Telecanthus, Right bundle branch block, Scoliosis, Spasticity |
OMIM:618590 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Clumsiness, Macroglossia, Bradycardia, Prolonged neonatal jaundice, Failure to thrive |
ORPHA:90674 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased inflammatory response, Tachycardia, Skin rash, Heart block, Capillary leak, Hypoxemia, ... |
ORPHA:542323 |
Brugada Syndrome 7 |
|
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... |
OMIM:613120 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Aortic regurgitation, Reduced subcutaneous adipose tissue, Prominent superficial veins, Tricuspid... |
OMIM:617402 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased muscle mass, Cachexia, Abdominal pain, Ragged-red muscle fibers, Weight loss, Abnormali... |
ORPHA:298 |
X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Distal lower limb amyotrophy, Clasp-knife sign, Tibialis anterior muscle atrophy, Peroneal muscle... |
ORPHA:101076 |
Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Eczema, Kyphoscoliosis, Minimal change glomerulonephritis |
OMIM:618348 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Ptosis, Epicanthus, Tricuspid regurgitation, Lacrimal duct stenosis, Highly arched eyebrow, Short... |
OMIM:617506 |
Ebstein Malformation Of The Tricuspid Valve |
|
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Right bundle branch block, C... |
ORPHA:1880 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Osteomyelitis, Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased pulmonary ... |
ORPHA:70591 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Atelectasis, Tetraplegia, Pulmonary fibrosis, Myoclonus, Death ... |
OMIM:618278 |
Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Epicanthus, Cataract, Sparse eyelashes, Small for gestational age, Kyphoscoliosis... |
OMIM:268400 |
Adult Krabbe Disease |
|
Somatic sensory dysfunction, Ataxia, Lower limb muscle weakness, Progressive spastic paraparesis,... |
ORPHA:206448 |
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Muscle fiber atrophy, Failure to thrive, Flexion contracture |
OMIM:620240 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Arthrogryposis multiplex congenita, Increased endomysial connective tissue, Flexion contracture, ... |
ORPHA:178148 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Exercise intolerance, Facial palsy, Ragged-red muscle fibers, Proximal amyotrophy, Generalized am... |
OMIM:615084 |
Marfan Syndrome |
|
Decreased muscle mass, Flexion contracture, Hypoplasia of the iris, Emphysema, Tricuspid regurgit... |
OMIM:154700 |
Leopard Syndrome 1 |
|
Bundle branch block, Epicanthus, Scapular winging, Kyphoscoliosis, Short neck, Third degree atrio... |
OMIM:151100 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Cyanosis, Congestive heart failure, Dilated cardiomyopathy, Heart murmur, M... |
ORPHA:2326 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Short stature, Fatty replacement of skeletal muscle, Hip pain, Generalized amyotrophy, Increased ... |
ORPHA:52430 |
Pericardial And Diaphragmatic Defect |
|
Congenital diaphragmatic hernia, Hypoxemia, Aplasia of the left hemidiaphragm, Palpitations, Pulm... |
ORPHA:2847 |
Mucoepithelial Dysplasia, Hereditary |
|
Fibrocystic lung disease, Cataract, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidi... |
OMIM:158310 |
Aortic Arch Interruption |
|
Aortic regurgitation, Shock, Tricuspid regurgitation, Cyanosis, Blood pressure substantially high... |
ORPHA:2299 |
Fucosidosis |
|
Anterior beaking of thoracic vertebrae, Flexion contracture, Tortuosity of conjunctival vessels, ... |
OMIM:230000 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Prolonged QT interval, Epicanthus, Failure to thrive in infancy, Myocardial infarction, Short nec... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Prolonged QT interval, Epicanthus, Failure to thrive in infancy, Myocardial infarction, Short nec... |
ORPHA:99228 |
Monosomy X |
|
Prolonged QT interval, Epicanthus, Failure to thrive in infancy, Myocardial infarction, Short nec... |
ORPHA:99226 |
Turner Syndrome |
|
Prolonged QT interval, Epicanthus, Failure to thrive in infancy, Myocardial infarction, Short nec... |
ORPHA:881 |
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Spastic ataxia, Spinal muscular atrophy, Spastic tetraparesis, Progressive spastic paraparesis, D... |
ORPHA:496756 |
Sarcoidosis |
|
Heart block, Abnormal lung morphology, Ventricular tachycardia, Uveitis, Tubulointerstitial nephr... |
ORPHA:797 |
Arthrogryposis Multiplex Congenita 6 |
|
Neonatal death, Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis m... |
OMIM:619334 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Bronchioli... |
OMIM:300755 |
Bohring-Opitz Syndrome |
|
Recurrent respiratory infections, Facial hypotonia, Synophrys, Bilateral wrist flexion contractur... |
ORPHA:97297 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Atrioventricular block, Abnormal form of the vertebral bodies, Abnormality of the orbital region,... |
ORPHA:371428 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Jaw claudication, Bruising susceptibility, Abnormal pu... |
ORPHA:85443 |
Renal Hypodysplasia/Aplasia 4 |
|
Pulmonary hypoplasia |
OMIM:619887 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crazy paving pattern, Intraalveolar phospholipid accumulation, Weight loss, Hypoxemia |
ORPHA:747 |
Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid regurgitation, Cyanosis, Small for gestational age, Anomalous pulmonary venous return, ... |
ORPHA:555874 |
Lacrimoauriculodentodigital Syndrome 2 |
|
Absent lacrimal punctum, Conjunctivitis, Lacrimal duct atresia, Lacrimal duct aplasia |
OMIM:620192 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Fatty replacement of skeletal muscle, Myopathy, Dysphagia, Increased variability in muscle fiber ... |
ORPHA:397744 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Epicanthus, Cataract, Corneal opacity, Rhabdomyosarcoma, Abnormal lung loba... |
ORPHA:1052 |
Eisenmenger Syndrome |
|
Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Supraventricular tachycar... |
ORPHA:97214 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Thoracic scoliosis, Sacral dimple, Kyphoscoliosis, Impaired temperature sensation, Bilateral ptos... |
ORPHA:536532 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Death in infancy, Cyanosis, Ataxia, Spasticity, Hypertonia, Myoclonus, Death in childhood, Recurr... |
OMIM:618426 |
Adrenal Hypoplasia, Congenital |
|
Failure to thrive, Muscular dystrophy |
OMIM:300200 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Limb myoclonus, Clonus |
ORPHA:1949 |
Acquired Purpura Fulminans |
|
Shock, Skin rash, Intracranial hemorrhage, Macular purpura, Acrocyanosis, Internal hemorrhage |
ORPHA:49566 |
Oculocerebrorenal Syndrome Of Lowe |
|
Death in infancy, Recurrent respiratory infections, Cataract, Corneal opacity, Clonus, Atelectasi... |
ORPHA:534 |
Alternating Hemiplegia Of Childhood |
|
Facial hypotonia, Ataxia, Cardiac conduction abnormality, Tremor, Rigidity, Chorea, Episodic hemi... |
ORPHA:2131 |
Biotinidase Deficiency |
|
Skin rash, Ataxia, Recurrent skin infections, Seborrheic dermatitis, Conjunctivitis |
OMIM:253260 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Exercise intolerance, Scapular winging, Ragged-red muscle fibers, Generalized limb muscle atrophy... |
OMIM:600462 |
Mucopolysaccharidosis Type 3 |
|
Recurrent sinopulmonary infections, Vocal cord paresis, Cataract, Corneal opacity, Ataxia, Respir... |
ORPHA:581 |
Arboleda-Tham Syndrome |
|
Recurrent respiratory infections, Epicanthus, Lacrimal duct stenosis, Highly arched eyebrow, Lowe... |
OMIM:616268 |
Alg3-Cdg |
|
Cataract, Spastic tetraparesis, Macroglossia, Cardiomyopathy, Hypertonia, Pulmonary hypoplasia, A... |
ORPHA:79321 |
Cockayne Syndrome |
|
Skeletal muscle atrophy, Congenital contracture, Retinal arteriolar constriction, Lentiglobus, Pr... |
ORPHA:191 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Skeletal muscle atrophy, Epicanthus, Telecanthus, Failure to thrive, Camptodactyly of finger, Mul... |
ORPHA:2990 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Periorbital dermoid cyst, Scapular winging, Conjunctivitis, Lacrimal duct stenosis |
OMIM:615560 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn... |
OMIM:265000 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary artery dilatation, Congenital diaphragmatic hernia, Narrow palpebral fissure, Bradycard... |
OMIM:614437 |
Laryngeal Abductor Paralysis |
|
Cyanosis, Vocal cord paralysis |
OMIM:150260 |
Refsum Disease |
|
Skeletal muscle atrophy, Cataract, Ataxia, Heart block, Hemiplegia/hemiparesis, Abnormal pyramida... |
ORPHA:773 |
Graft Versus Host Disease |
|
Skeletal muscle atrophy, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory ab... |
ORPHA:39812 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers |
OMIM:540000 |
Recon Progeroid Syndrome |
|
Skeletal muscle atrophy, Progeroid facial appearance, Livedo reticularis, Red eye, Absent lower e... |
OMIM:620370 |
Hurler Syndrome |
|
Death in infancy, Recurrent respiratory infections, Cerebral palsy, Corneal opacity, Angina pecto... |
ORPHA:93473 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Skeletal muscle atrophy, Epicanthus, Tricuspid regurgitation, Kyphoscoliosis, Atlantoaxial instab... |
OMIM:614557 |
Spondylospinal Thoracic Dysostosis |
|
Arthrogryposis multiplex congenita, Pulmonary hypoplasia, Multiple pterygia |
OMIM:601809 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Br... |
OMIM:615067 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis, Obesity |
OMIM:257500 |
Congenital Tracheomalacia |
|
Cyanosis, Pneumonia, Partial anomalous pulmonary venous return, Pneumothorax, Bronchiectasis, Rec... |
ORPHA:95430 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
ORPHA:329284 |
Aicardi-Goutieres Syndrome 1 |
|
Chilblains, Vasculitis, Erythema, Cardiomyopathy, Abnormality of extrapyramidal motor function, P... |
OMIM:225750 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Death in infancy, Kyphoscoliosis, Platyspondyly, Cervical instability, Erythroderma, Thoracolumba... |
OMIM:617425 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Macroglossia, Bradycardia, Prolonged neonatal jaundice |
ORPHA:90673 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... |
ORPHA:363654 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Lumbar hyperlordosis, Facial hypotonia, Slender build, Kyphoscoliosis, Large for gestational age,... |
ORPHA:457359 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Spinal muscular atrophy, Flexion contracture, Increased variability in muscle fiber diameter, Gen... |
OMIM:616866 |
Gaucher Disease, Type Iii |
|
Spastic paraparesis, Ataxia, Myoclonus, Decreased body weight |
OMIM:231000 |
Incontinentia Pigmenti |
|
Cataract, Maculopapular exanthema, Kyphoscoliosis, Keratitis, Retinal vascular proliferation, Ery... |
OMIM:308300 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Epicanthus, Incoordination, Ataxia, Short neck, Upslanted palpebral fissure, Macroglossia, Arthro... |
ORPHA:369891 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Epicanthus, Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Short neck, Thoracic platyspo... |
ORPHA:457395 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Short neck, Narrow palpebral fissure, Stillbirth, Pulmonary hypoplasia, Neonatal death, Arthrogry... |
OMIM:236500 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Congestive he... |
OMIM:620066 |
Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Tremor, Abnormal pyramidal sign, Eyelid coloboma, Hyperton... |
ORPHA:51 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame... |
OMIM:619461 |
Meckel Syndrome 14 |
|
Tricuspid regurgitation, Cyanosis, Short neck, Pneumothorax, Mitral regurgitation, Pulmonary hypo... |
OMIM:619879 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Hypertonia, Cyanosis, Opisthotonus |
OMIM:250800 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Distichiasis, Sinus bradycardia |
OMIM:126320 |
Osteogenesis Imperfecta, Type Xi |
|
Kyphoscoliosis, Vertebral wedging, Biconcave vertebral bodies, Scoliosis, Vertebral compression f... |
OMIM:610968 |
Spinocerebellar Ataxia 28 |
|
Lower limb hypertonia, Ragged-red muscle fibers |
OMIM:610246 |
Tetrasomy 15Q26 |
|
Downslanted palpebral fissures, Kyphoscoliosis, Camptodactyly |
OMIM:614846 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Ataxia, Gait ataxia, Choreoathetosis, Opisthotonus, Limb hypertonia |
OMIM:619580 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Upper eyelid coloboma, ... |
OMIM:167730 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increased endomysial connecti... |
OMIM:620278 |
Mitochondrial Phosphate Carrier Deficiency |
|
Hypertrophic cardiomyopathy, Cyanosis |
OMIM:610773 |
Porphyria, Congenital Erythropoietic |
|
Absent eyebrow, Jaundice, Loss of eyelashes, Corneal scarring, Joint contracture of the hand, Con... |
OMIM:263700 |
Progeroid Short Stature With Pigmented Nevi |
|
Thoracic scoliosis, Cataract, Small for gestational age, Lack of facial subcutaneous fat, Allergi... |
OMIM:176690 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Skeletal muscle atrophy, Acrocyanosis |
ORPHA:2400 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue |
ORPHA:663 |
Developmental And Epileptic Encephalopathy 82 |
|
Spastic paraparesis, Spastic tetraplegia, Decreased body weight |
OMIM:618721 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Decreased muscle mass, Kyphoscoliosis, Short neck, Sparse eyebrow, Synophrys, Scoliosis, Vertebra... |
OMIM:309583 |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Kyphoscoliosis |
OMIM:618339 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Short neck, Flexion contracture, Irregular vertebral endplates, Tricuspid regurgitation, Lumbar h... |
OMIM:143095 |
Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave |
ORPHA:1055 |
Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Heart block, Bacterial endocarditis, Premature ventricular contraction |
ORPHA:1964 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Syncope, Downslanted palpebral fissures, Premature ventricular contraction |
OMIM:192445 |
Greig Cephalopolysyndactyly Syndrome |
|
Camptodactyly of toe, Joint contracture of the hand, Abnormal muscle fiber morphology |
OMIM:175700 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
Esophageal Atresia |
|
Recurrent respiratory infections, Cyanosis, Small for gestational age, Failure to thrive in infan... |
ORPHA:1199 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypertension, Second degree atrioventricular block, Small for gestational age, Pulmonary arterial... |
OMIM:617021 |
Scimitar Syndrome |
|
Recurrent respiratory infections, Left-to-right shunt, Abnormal hemidiaphragm morphology, Heart b... |
ORPHA:185 |
Multiple Pterygium Syndrome, X-Linked |
|
Vertebral fusion, Epicanthus, Abnormal cervical curvature, Multiple pterygia, Flexion contracture... |
OMIM:312150 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Urinary incontinence, Cachexia, Upper-limb joint contracture, Distal amy... |
ORPHA:300605 |
Plasminogen Deficiency, Type I |
|
Nephritis, Recurrent upper respiratory tract infections, Conjunctivitis, Periodontitis |
OMIM:217090 |
Congenital Diaphragmatic Hernia |
|
Hypoxemia, Aplasia/Hypoplasia of the diaphragm, Pulmonary hypoplasia, Congenital diaphragmatic he... |
ORPHA:2140 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Recurrent lower respiratory tract infections, Joint contracture, Failure to thrive, Kyphoscoliosis |
OMIM:618005 |
Multiple Endocrine Neoplasia Type 2 |
|
Reduced subcutaneous adipose tissue, Prominent corneal nerve fibers, Hyperlordosis, Kyphoscoliosi... |
ORPHA:653 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Sparse eyebrow, Keratitis, Elb... |
OMIM:148210 |
Tonne-Kalscheuer Syndrome |
|
Congenital diaphragmatic hernia, Tremor, Blue irides, Pulmonary hypoplasia, Spasticity, Downslant... |
OMIM:300978 |
Split Cord Malformation |
|
Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Para... |
ORPHA:573278 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Telecanthus, Small for gestational age, Short neck, Flexion contracture, Pleural effusion, Platys... |
OMIM:616897 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Speech apraxia, Ataxia, Left ventricular noncompaction cardiomyopathy, Kyphoscoliosis, Tremor, Ky... |
OMIM:300967 |
Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Cataract, Unossified sacrum... |
ORPHA:93296 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ... |
ORPHA:171430 |
Autosomal Recessive Spastic Paraplegia Type 55 |
|
Skeletal muscle atrophy, Lower limb spasticity, Tibialis muscle weakness, Babinski sign, Distal s... |
ORPHA:320375 |
Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Pustule, Cheilitis, Eosinophilic dermal infiltratio... |
ORPHA:293173 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Exercise intolerance, Rhabdomyolysis, Increased muscle lipid content, Exercise-induced myalgia, M... |
ORPHA:228302 |
Myasthenia Gravis |
|
Myositis, Raynaud phenomenon, Hepatitis, Paresthesia, Rheumatoid arthritis, Acrocyanosis, Hashimo... |
ORPHA:589 |
Hypokalemic Periodic Paralysis |
|
Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology |
ORPHA:681 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Kyphoscoliosis, Cervical spine instability, Platyspondyly, Decreased body weight, Joint contracture |
OMIM:615349 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Lymphadenitis, Atelectasi... |
OMIM:306400 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Ovoid vertebral bodies, Kyphoscoliosis, Short neck, Ectopia lentis, Flexion contracture, Parapleg... |
OMIM:271640 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Epicanthus, Kyphoscoliosis, Kyphosis, Hemivertebrae, Macroglossia, Scoliosis, Spasticity |
OMIM:301040 |
Isolated Congenital Alacrima |
|
Keratitis, Corneal erosion, Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, ... |
ORPHA:91416 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Parkinsonism, Tremor, Abnormal pyramidal sign, Parkinsonism with favorable response to dopaminerg... |
ORPHA:240071 |
Hajdu-Cheney Syndrome |
|
Epicanthus, Telecanthus, Kyphoscoliosis, Short neck, Synophrys, Tall lumbar vertebral bodies, Lon... |
OMIM:102500 |
Adult Syndrome |
|
Eczema, Nasolacrimal duct obstruction, Ectodermal dysplasia, Conjunctivitis, Cutaneous photosensi... |
OMIM:103285 |
Larsen-Like Syndrome |
|
Recurrent otitis media, Kyphoscoliosis |
OMIM:608545 |
Cockayne Syndrome Type 3 |
|
Skeletal muscle atrophy, Cataract, Kyphosis, Flexion contracture, Subdural hemorrhage, Retinal he... |
ORPHA:90324 |
Basilar Impression, Primary |
|
Limb muscle weakness, Kyphoscoliosis, Horner syndrome, Short neck |
OMIM:109500 |
Sheehan Syndrome |
|
Orthostatic hypotension, Obesity, Palpitations, Bradycardia, Hashimoto thyroiditis |
ORPHA:91355 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Recurrent respiratory infections, Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoc... |
ORPHA:1806 |
Autosomal Recessive Spastic Paraplegia Type 20 |
|
Impaired vibratory sensation, Skeletal muscle atrophy, Epicanthus, Speech apraxia, Babinski sign,... |
ORPHA:101000 |
Osteogenesis Imperfecta, Type Xvii |
|
Decreased muscle mass, Kyphoscoliosis, Intraventricular hemorrhage, Platyspondyly, Vertebral comp... |
OMIM:616507 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Increased variability in muscle fiber diameter, Cataract, Muscular dystrophy |
OMIM:616538 |
Leptospirosis |
|
Pericarditis, Skin rash, First degree atrioventricular block, Jaundice, Rhabdomyolysis, Hepatitis... |
ORPHA:509 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Death in infancy, Cataract, Muscular dystrophy, Death in childhood |
OMIM:614643 |
Primary Lateral Sclerosis |
|
Somatic sensory dysfunction, Weakness due to upper motor neuron dysfunction, Progressive spastic ... |
ORPHA:35689 |
Acrorenal-Mandibular Syndrome |
|
Epicanthus, Congenital diaphragmatic hernia, Kyphoscoliosis, Elbow flexion contracture, Hemiverte... |
OMIM:200980 |
Tarp Syndrome |
|
Cyanosis, Pulmonary hypoplasia, Scoliosis, Athetoid cerebral palsy, Failure to thrive, Short palp... |
ORPHA:2886 |
Fetal Akinesia Deformation Sequence |
|
Multiple joint contractures, Camptodactyly of finger, Generalized amyotrophy, Pulmonary hypoplasi... |
ORPHA:994 |
Restrictive Dermopathy 1 |
|
Prominent superficial blood vessels, Entropion, Sparse eyelashes, Limb joint contracture, Kyphosc... |
OMIM:275210 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Exercise intolerance, Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Rhabdomyol... |
OMIM:157640 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Kyphoscoliosis |
ORPHA:96190 |
Multiple Pterygium Syndrome, Lethal Type |
|
Vertebral fusion, Epicanthus, Abnormal cervical curvature, Multiple pterygia, Flexion contracture... |
OMIM:253290 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Hip contracture, Ataxia, Kyphoscoliosis, Knee flexion contracture, Upslanted palpebral fissure, D... |
ORPHA:488642 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Short stature, Facial palsy, Abnormal muscle fiber morphology |
ORPHA:3068 |
Wrinkly Skin Syndrome |
|
Recurrent sinopulmonary infections, Epicanthus, Decreased muscle mass, Kyphoscoliosis, Excessive ... |
ORPHA:2834 |
Congenital Myopathy 22B, Severe Fetal |
|
Hip contracture, Scapular winging, Thoracic scoliosis, Limb joint contracture, Shoulder flexion c... |
OMIM:620369 |
Marden-Walker Syndrome |
|
Epicanthus, Decreased muscle mass, Short neck, Kyphosis, Congenital contracture, Pulmonary hypopl... |
OMIM:248700 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Epicanthus, Telecanthus, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Abnorm... |
OMIM:263210 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Lumbar hyperlordosis, Thoracic platyspondyly, Synophrys, Platyspondyly, Third... |
OMIM:619636 |
Transketolase Deficiency |
|
Cataract, Conjunctivitis, Uveitis, Seborrheic dermatitis |
ORPHA:488618 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... |
OMIM:612422 |
Kindler Epidermolysis Bullosa |
|
Corneal opacity, Recurrent skin infections, Camptodactyly of finger, Erythema, Flexion contractur... |
ORPHA:2908 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Cataract, Skin rash, Ataxia, Chorea, Dilated cardiomyopathy, Erythema, Spastic tetra... |
OMIM:618321 |
Melnick-Needles Syndrome |
|
Recurrent respiratory infections, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Still... |
OMIM:309350 |
Meier-Gorlin Syndrome 7 |
|
Heart block, Second degree atrioventricular block, Vertebral segmentation defect, Pulmonary hypop... |
OMIM:617063 |
Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
Unilateral Polymicrogyria |
|
Cyanosis, Epistaxis, Pulmonary arteriovenous malformation, Involuntary movements, Spastic tetrapl... |
ORPHA:268943 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Speech apraxia, Epicanthus, Tricuspid regurgitation, Abnormal cardiac ventricular function, Ataxi... |
ORPHA:466791 |
Criss-Cross Heart |
|
Cyanosis, Tricuspid stenosis, Pulmonic stenosis, Mitral stenosis, Supravalvular aortic stenosis |
ORPHA:1461 |
Thanatophoric Dysplasia |
|
Abnormal sacroiliac joint morphology, Kyphosis, Platyspondyly, Pulmonary hypoplasia, Downslanted ... |
ORPHA:2655 |
Dyskeratosis Congenita, X-Linked |
|
Cataract, Sparse eyelashes, Ataxia, Premature graying of hair, Conjunctivitis, Pulmonary fibrosis... |
OMIM:305000 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Aortic regurgitation, Anterior uveitis, Back pain, Psoriasiform dermatitis, Kyphosis, Oligoarthri... |
OMIM:106300 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Flexion contracture, Developmental cataract, Posterior synechiae of the anterior chamber, Muscula... |
OMIM:613154 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Pulmonary hypoplasia, Congenital diaphragmatic hernia |
ORPHA:2141 |
Postinfectious Vasculitis |
|
Gastrointestinal inflammation, Bacterial endocarditis, Acrocyanosis, Recurrent streptococcus pneu... |
ORPHA:48435 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Tricuspid regurgitation, Sinus bradycardia, Mitral regurgitation, Recurrent otitis media, Sparse ... |
OMIM:261990 |
Eales Disease |
|
Peripheral retinal neovascularization, Anterior uveitis, Transient ischemic attack, Epistaxis, Ir... |
ORPHA:40923 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Tachycardia, Periodic paralysis, Weight loss |
OMIM:613239 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Kyphoscoliosis, Abnormality of the vertebral column, Platyspondyly, Scoliosis |
ORPHA:93316 |
Caudal Regression Syndrome |
|
Decreased muscle mass, Aplasia/Hypoplasia of the sacrum, Hypoplastic vertebral bodies, Hypertensi... |
ORPHA:3027 |
Neurofibroma |
|
Neoplasm of the trachea, Kyphoscoliosis, Spinal canal stenosis, Intestinal bleeding, Neoplasia of... |
ORPHA:252183 |
Chand Syndrome |
|
Atelectasis, Ataxia, Ankyloblepharon |
ORPHA:1401 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Recurrent skin infections, Pneumonia, Dilated cardiomyopathy, Pneumothorax, Gastrointestinal infl... |
ORPHA:79404 |
Poems Syndrome |
|
Weight loss, Paresthesia, Sclerotic vertebral endplates, Hyperesthesia, Pulmonary arterial hypert... |
ORPHA:2905 |
Goodpasture Syndrome |
|
Cyanosis, Glomerulonephritis, Nodular pattern on pulmonary HRCT, Ground-glass opacification, Weig... |
OMIM:233450 |
Odontochondrodysplasia 1 |
|
Death in infancy, Recurrent respiratory infections, Biconvex vertebral bodies, Coronal cleft vert... |
OMIM:184260 |
Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Cyanosis, Pulmonary edema, Anomalous origin of one pulmonary a... |
ORPHA:3384 |
Wiedemann-Rautenstrauch Syndrome |
|
Tremor, Synophrys, Hypoplastic vertebral bodies, Hypertonia, Ataxia, Lagophthalmos, Pulmonic sten... |
ORPHA:3455 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Short neck, Overweight, Macroglossia, Bradycardia, Prolonged neonatal jaundice, Decreased cervica... |
ORPHA:226307 |
X-Linked Intellectual Disability, Snyder Type |
|
Unilateral ptosis, Decreased muscle mass, Involuntary movements, Kyphoscoliosis, Sparse eyebrow, ... |
ORPHA:3063 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Calf muscle hypertrophy, Myopathy, Increased variability in muscle fiber diameter, Pelvic girdle ... |
ORPHA:119 |
You-Hoover-Fong Syndrome |
|
Spasticity, Ataxia, Kyphoscoliosis |
OMIM:616954 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Pulmonary hypoplasia |
OMIM:613124 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Transient ischemic attac... |
OMIM:610655 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Symblepharon, Pneumonia, Trich... |
ORPHA:95455 |
Digeorge Syndrome |
|
Pilonidal sinus, Acne, Sclerocornea, Seborrheic dermatitis, Blepharophimosis, Atelectasis, Recurr... |
OMIM:188400 |
Osteogenesis Imperfecta, Type Xx |
|
Vertebral compression fracture, Kyphoscoliosis, Highly arched eyebrow, Sparse lateral eyebrow |
OMIM:618644 |
Ane Syndrome |
|
Multiple joint contractures, Generalized amyotrophy, Kyphoscoliosis |
ORPHA:157954 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Rigidity, Tachycardia, Rhabdomyolysis, Hypotension |
OMIM:145600 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Hip contracture, Peripheral opacification of the cornea, Corneal opacity, Interphalangeal joint c... |
OMIM:259600 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... |
OMIM:187300 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Epicanthus, Peripheral retinal avascularization, Miscarriage, Interphalangeal joint contracture o... |
ORPHA:96334 |
Hyperoxaluria, Primary, Type I |
|
Cutis marmorata, Raynaud phenomenon, Arterial occlusion, Atrioventricular block, Intermittent cla... |
OMIM:259900 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Eczema, Absent eyelashes, Ectodermal dysplasia, Conjunctival hyperemia |
ORPHA:2890 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Cataract, Pulmonary hypoplasia, Neonatal death, Pterygium, Anisospondyly |
OMIM:224410 |
Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Sinusitis, Ataxia, Pneumonia, Facial palsy, Pustule, Respiratory tract infec... |
ORPHA:68 |
Cardiac Diverticulum |
|
Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Diastasis recti, Congestive h... |
ORPHA:1686 |
Yellow Fever |
|
Shock, Low back pain, Acute pancreatitis, Skin rash, Supraventricular arrhythmia, Hematemesis, Ja... |
ORPHA:99829 |
Laryngotracheoesophageal Cleft |
|
Recurrent respiratory infections, Cyanosis |
ORPHA:2004 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Skeletal muscle atrophy, Pulmonary hypoplasia, Abnormal form of the vertebral bodies, Short neck |
ORPHA:1486 |
Hypermobile Ehlers-Danlos Syndrome |
|
Keratoconus, Epicanthus, Osteoarthritis, Aplasia/Hypoplasia of the abdominal wall musculature, Ke... |
ORPHA:285 |
Hereditary Acrokeratotic Poikiloderma |
|
Telangiectasia of the skin, Eczema, Camptodactyly of finger, Pustule, Erythema, Keratoconjunctivi... |
ORPHA:2907 |
Foix-Alajouanine Syndrome |
|
Distal lower limb amyotrophy, Back pain, Somatic sensory dysfunction, Low back pain, Dysesthesia,... |
ORPHA:79093 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Parkinsonism, Rigidity, Babinski sign, Hand tremor, Bradykinesia, Spastic paraparesis, Spasticity... |
ORPHA:289560 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e... |
ORPHA:2399 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Ataxia, Head titubation, Kyphosis, Interstitial emphysema, Bronchiectasis, Dysmetria, Knee flexio... |
OMIM:619708 |
Nphp3-Related Meckel-Like Syndrome |
|
Pulmonary hypoplasia |
ORPHA:3032 |
Choanal Atresia |
|
Recurrent respiratory infections, Cyanosis, Chronic sinusitis |
ORPHA:137914 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Epicanthus, Thoracic scoliosis, Cervical kyphosis, Kyphoscoli... |
OMIM:114290 |
Double Outlet Left Ventricle |
|
Cyanosis, Pulmonary artery stenosis, Abnormal right ventricular function, Failure to thrive, Syst... |
ORPHA:3427 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Cachexia, Abdominal pain, Ragged-red muscle fibers, Weight loss, Distal amyotrophy, Abdominal cra... |
OMIM:603041 |
Congenital Aortic Valve Stenosis |
|
Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Endocarditis, Abnorma... |
ORPHA:3093 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Cyanosis, Partial anomalous pulmonary venous return, Systolic heart murmur |
OMIM:617478 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Fatigue, Ragged-red muscle fibers, Decreased level of coenzyme Q10 in skeletal muscle, Dysphagia |
OMIM:607426 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... |
OMIM:600376 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia |
ORPHA:3033 |
Sunct Syndrome |
|
Ptosis, Palpebral edema, Facial erythema, Conjunctival hyperemia, Flushing |
ORPHA:57145 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Lumbar hyperlordosis, Kyphoscoliosis, Posterior subcapsular cataract, Platyspondyly, Thoracic kyp... |
OMIM:271510 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Microcornea, Epicanthus, Keratoconjunctivitis sicca, Sparse eyelashes |
OMIM:234050 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Upslanted palpebral fissure, Sacral dimple, Kyphoscoliosis, Camptodactyly |
OMIM:616331 |
Laryngotracheal Angioma |
|
Cyanosis |
ORPHA:137935 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Cataract, Chronic active hepatitis, Iridocyclitis, Chronic mucocutaneous cand... |
OMIM:240300 |
Schinzel-Giedion Syndrome |
|
Sacrococcygeal teratoma, Failure to thrive in infancy, Kyphoscoliosis, Short neck, Recurrent pneu... |
ORPHA:798 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Skin fragility with non-scarring blistering, Flexion contracture, Fragile skin, Muscular dystrophy |
ORPHA:158684 |
Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Eczema, Keratoconjunctivitis sicca, Failure to thrive, Inflammatory abnormality of the... |
ORPHA:238468 |
Primary Hyperoxaluria |
|
Failure to thrive, Cutis marmorata, Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomy... |
ORPHA:416 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Kyphosis, Sinus bradycardia, Astigmatism, Scoliosis, Aspiration pneumonia |
OMIM:619482 |
Kagami-Ogata Syndrome |
|
Diastasis recti, Kyphoscoliosis, Large for gestational age, Short neck, Blepharophimosis |
ORPHA:254519 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Recurrent respiratory infections, Highly arched eyebrow, Synophrys, Pulmonary hypoplasia, Scolios... |
OMIM:618316 |
Hypoadrenocorticism, Familial |
|
Cyanosis |
OMIM:240200 |
Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:270150 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent respiratory infections, Abnormal central motor function, Ataxia, Cerebral palsy, Hypert... |
ORPHA:760 |
Noonan Syndrome 1 |
|
Epicanthus, Failure to thrive in infancy, Kyphoscoliosis, Short neck, Synovitis, Chylothorax, Pul... |
OMIM:163950 |
Distal Deletion 12Q |
|
Late onset atopic dermatitis, Telecanthus, Failure to thrive in infancy, Kyphoscoliosis, Impaired... |
ORPHA:96149 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Disc-like vertebral bodies, Ovoid vertebral bodies, Short neck, Wafer-thin platyspondyly, Stillbi... |
OMIM:151210 |
3Q27.3 Microdeletion Syndrome |
|
Downslanted palpebral fissures, Kyphoscoliosis |
ORPHA:397695 |
Acro-Renal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Kyphosis, Abnormal lung lobation, Hemivertebrae, Pul... |
ORPHA:958 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Cataract, Kyphoscoliosis, Orbital cyst, Hemivertebrae, Vertebral wedging, Scoli... |
OMIM:109400 |
Dextrocardia |
|
Abnormal EKG, Abnormal lung lobation, T-wave inversion, Abnormal pulmonary situs morphology, Abno... |
ORPHA:1666 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Abnormality of the diaphragm, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
OMIM:601163 |
Hepatoerythropoietic Porphyria |
|
Recurrent bacterial skin infections, Loss of eyelashes, Severe photosensitivity, Keratoconjunctiv... |
ORPHA:95159 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Portal hypertension, Action tremor, Rigidity, Jaundice, Bradykinesia, Poor fine motor coordinatio... |
ORPHA:309854 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Tubulointerstitial nephritis, Cyanosis, Failure to thrive in infancy |
ORPHA:488627 |
Glycerol Kinase Deficiency |
|
Myopathy, Small for gestational age, Muscular dystrophy, Chronic pancreatitis |
OMIM:307030 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Arrhythmia, Atrioventricular block, Platyspondyly |
ORPHA:93317 |
Nephronophthisis 2 |
|
Hypertension, Chronic tubulointerstitial nephritis, Pulmonary insufficiency, Pulmonary hypoplasia |
OMIM:602088 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Abnormal lung lobation, Stillbirth, Aortic valve stenosis, Pulmonary hypoplasia, Pulmonic stenosi... |
OMIM:615415 |
Oculopharyngodistal Myopathy 1 |
|
Autophagic vacuoles, Facial palsy, Weight loss, Distal amyotrophy, Dysphagia, Increased variabili... |
OMIM:164310 |
Neutral Lipid Storage Myopathy |
|
Short stature, Hand muscle weakness, Fatty replacement of skeletal muscle, Generalized limb muscl... |
ORPHA:98908 |
Friedreich Ataxia 2 |
|
Impaired vibratory sensation, Abnormal EKG, Incoordination, Ataxia, Congestive heart failure, Bab... |
OMIM:601992 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Corneal opacity, Kyphoscoliosis |
OMIM:163200 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Cataract, Spastic paraparesis |
OMIM:619338 |
Hutchinson-Gilford Progeria Syndrome |
|
Prominent superficial blood vessels, Myocardial infarction, Osteoarthritis, Intracranial hemorrha... |
ORPHA:740 |
Cog1-Cdg |
|
Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Vertebral segmentation defect, Pulm... |
ORPHA:263508 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Perianal erythema, Pustule, Perioral erythema, Erythroderma, Failure to thrive, Blepharitis |
OMIM:614328 |
Frank-Ter Haar Syndrome |
|
Acne, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Prominent coccyx, Campt... |
OMIM:249420 |
Achalasia, Familial Esophageal |
|
Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:200400 |
Lacrimoauriculodentodigital Syndrome |
|
Lacrimal gland aplasia, Absent lacrimal punctum, Increased corneal thickness, Hypoplasia of the l... |
ORPHA:2363 |
Overlap Myositis |
|
Proximal muscle weakness in upper limbs, Perifascicular muscle fiber atrophy, Limb pain, Dysphagi... |
ORPHA:206572 |
Scheie Syndrome |
|
Aortic regurgitation, Cerebral palsy, Corneal opacity, Rhinitis, Spastic paraparesis |
ORPHA:93474 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Back pain, Lumbar hyperlordosis, Posterior subcapsular cataract, Bilateral camptodactyly, Lumbar ... |
OMIM:619234 |
Epidermal Nevus Syndrome |
|
Thoracolumbar scoliosis, Rhabdomyosarcoma, Progressive spastic paraparesis, Babinski sign, Weakne... |
ORPHA:35125 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Congenital diaphragmatic hernia, Sparse eyebrow, Upslanted palpebral fissure, Vertebral segmentat... |
OMIM:612530 |
Distal Triplication 15Q |
|
Telecanthus, Corneal dystrophy, Large for gestational age, Kyphosis, Flexion contracture, Pulmona... |
ORPHA:314588 |
Serkal Syndrome |
|
Congenital diaphragmatic hernia, Pulmonary hypoplasia, Pulmonic stenosis |
ORPHA:139466 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Miscarriage, Short neck, Flexion contracture, Developmental cataract, Pulmonary hypoplasia, Ptery... |
ORPHA:1865 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature |
OMIM:616239 |
Stuve-Wiedemann Syndrome 1 |
|
Death in infancy, Ovoid vertebral bodies, Impaired pain sensation, Short neck, Elbow flexion cont... |
OMIM:601559 |
Microphthalmia, Syndromic 9 |
|
Congenital diaphragmatic hernia, Agenesis of pulmonary vessels, Alveolar capillary dysplasia, Bil... |
OMIM:601186 |
Restrictive Dermopathy 2 |
|
Cyanosis |
OMIM:619793 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Fatigue, Exercise intolerance, Facial palsy, Quadriceps muscle weakness, Ragged-red muscle fibers... |
ORPHA:254892 |
Chronic Graft Versus Host Disease |
|
Fasciitis, Poor wound healing, Urinary bladder inflammation, Erythema, Flexion contracture, Bronc... |
ORPHA:99921 |
Coasy Protein-Associated Neurodegeneration |
|
Parkinsonism, Spastic paraparesis |
ORPHA:397725 |
Thanatophoric Dysplasia, Type I |
|
Short neck, Platyspondyly, Pulmonary hypoplasia, Neonatal death, Severe platyspondyly |
OMIM:187600 |
Pitt-Hopkins Syndrome |
|
Failure to thrive, Ataxia, Short neck, Gait ataxia, Upslanted palpebral fissure, Astigmatism, Eso... |
ORPHA:2896 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Epicanthus, Unilateral lung agenesis, Transient ischemic attack, Lumbar hyperlordosis, Kyphoscoli... |
ORPHA:500150 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Agitation, Deposits immunoreactive to beta-amyloid protein, Disinhibition |
ORPHA:1020 |
Lambert-Eaton Myasthenic Syndrome |
|
Small cell lung carcinoma, Keratoconjunctivitis sicca, Orthostatic hypotension due to autonomic d... |
ORPHA:43393 |
Heart Block, Congenital |
|
Atrioventricular block, Myocardial calcification, Absent atrioventricular node, Cardiomyopathy, M... |
OMIM:234700 |
Williams-Beuren Syndrome |
|
Medial flaring of the eyebrow, Epicanthus, Incoordination, Failure to thrive in infancy, Portal h... |
OMIM:194050 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Paresthesia, Palpitations, Abnormal T-wave |
ORPHA:231625 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Failure to thrive, Cataract, Entropion, Telangiectasia of the skin, ... |
ORPHA:910 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Pneumonia, Osteomyelitis, Recurrent skin infections, Perianal ab... |
ORPHA:2968 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size, Myalgia |
ORPHA:2348 |
Parathyroid Carcinoma |
|
Shortened QT interval, Pancreatitis, Weight loss |
ORPHA:143 |
Oculodentodigital Dysplasia |
|
Epicanthus, Cataract, Ataxia, Camptodactyly of finger, Abnormality iris morphology, Abnormal form... |
ORPHA:2710 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Abnormal pulmona... |
ORPHA:227990 |
Ogden Syndrome |
|
Abnormal eyelid morphology, Short neck, Ventricular tachycardia, Hypertonia, Supraventricular tac... |
OMIM:300855 |
Osteoporosis-Pseudoglioma Syndrome |
|
Iris atrophy, Cataract, Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral b... |
OMIM:259770 |
Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Epicanthus, Absent in utero ossification of vertebral bodies, Sho... |
OMIM:608022 |
Pparg-Related Familial Partial Lipodystrophy |
|
Calf muscle pseudohypertrophy, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertr... |
ORPHA:79083 |
Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Sacral dimple, Abnormality of the vertebral column, Pulmonary hypoplasia, Neonatal death, Abnorma... |
OMIM:314390 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Epicanthus, Sinusitis, Lower limb dysmetria, Kyphoscoliosis, Hyperlordosis, Mitral regurgitation,... |
ORPHA:363700 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Thoracic scoliosis, Short neck, Macroglossia, Pulmonary hypoplasia, Increased variab... |
OMIM:617022 |
Limb-Mammary Syndrome |
|
Absent lacrimal punctum, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Sparse eyebr... |
ORPHA:69085 |
Pallister-Hall-Like Syndrome |
|
Death in infancy, Pulmonary hypoplasia |
OMIM:241800 |
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia |
|
Spastic paraparesis, Palatal tremor, Truncal ataxia |
OMIM:113610 |
Cerebellar-Facial-Dental Syndrome |
|
Cataract, Foot joint contracture, Short neck, Sparse eyebrow, S-shaped palpebral fissures, Scolio... |
ORPHA:444072 |
Congenital Myopathy 17 |
|
Telecanthus, Failure to thrive in infancy, Respiratory tract infection, Myopathy, Distal arthrogr... |
OMIM:618975 |
Choreoacanthocytosis |
|
Peroneal muscle atrophy, Chorea, Hypertonia, Muscle fiber atrophy, Impaired vibratory sensation, ... |
ORPHA:2388 |
Czeizel-Losonci Syndrome |
|
Posterolateral diaphragmatic hernia, Thoracolumbar scoliosis, Upslanted palpebral fissure, Aplasi... |
ORPHA:2437 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Proximal amyotrophy, Arthralgia, Muscle fiber splitting |
OMIM:606408 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Abnormal pulmona... |
ORPHA:227982 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Palmoplantar cutis laxa, Abnormal odontoid process morphology, Kyphoscoliosis |
ORPHA:2976 |
Gaucher Disease, Perinatal Lethal |
|
Opisthotonus, Pulmonary hypoplasia, Decreased body weight, Neonatal death, Arthrogryposis multipl... |
OMIM:608013 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Torticollis, White eyelashes, White eyebrow, Ataxia, Portal hypertension, Spastic tetraplegia, Di... |
OMIM:609136 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
OMIM:300894 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lower limb spasticity, Ataxia, Hemiparesis, Spastic paraparesis, Failure to thrive, Lower limb mu... |
ORPHA:395 |
Hypermanganesemia With Dystonia 1 |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality of extrap... |
OMIM:613280 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Telecanthus, Jaundice, Developmental cataract, Pulmonary hypoplasia, Neonatal death |
OMIM:231680 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Small for gestational age, Kyphoscoliosis, Hemivertebrae, Scoliosis, Pu... |
ORPHA:97360 |
Sponastrime Dysplasia |
|
Epicanthus, Cataract, Lumbar hyperlordosis, Small for gestational age, Kyphoscoliosis, Recurrent ... |
ORPHA:93357 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Platyspondyly, Lumbar hyperlordosis, Kyphoscoliosis |
OMIM:184253 |
Heterotaxy, Visceral, 1, X-Linked |
|
Bilateral trilobed lung, Absence of the sacrum, Cyanosis, Block vertebrae, Total anomalous pulmon... |
OMIM:306955 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Recurrent respiratory infections, Lower limb spasticity, Multiple joint contractures, Clonus, Hai... |
ORPHA:447997 |
Congenital Erythropoietic Porphyria |
|
Recurrent bacterial skin infections, Loss of eyelashes, Severe photosensitivity, Keratoconjunctiv... |
ORPHA:79277 |
1Q41Q42 Microdeletion Syndrome |
|
Upslanted palpebral fissure, Pulmonary hypoplasia, Abnormality iris morphology, Congenital diaphr... |
ORPHA:250999 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Palpebral edema, Enlarged lacrimal glands, Thyroiditis, Abnormality of the orbital regi... |
ORPHA:79078 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Bilateral ptosis, Rhinitis, Orthostatic syncope, Syncope |
ORPHA:230 |
Atelosteogenesis Type I |
|
Telecanthus, Coronal cleft vertebrae, Platyspondyly, Pulmonary hypoplasia, Scoliosis, Absent or m... |
ORPHA:1190 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis |
OMIM:261680 |
Plague |
|
Chapped lip, Tachycardia, Skin rash, Erythema nodosum, Lymphadenitis, Hematemesis, Slurred speech... |
ORPHA:707 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Epicanthus, Cataract, Brushfield spots, Upslanted palpebral fissure, Macroglossia, Death in child... |
OMIM:214100 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Pneumothorax, Tricuspid regurgitation, Pulmonary hypoplasia, Limb hypertonia |
OMIM:620306 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Epicanthus, Small for gestational age, Small thenar eminence, Pulmonary hypoplasia, Pulmonic sten... |
OMIM:619148 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Necrotizing enterocolitis, Small for gestational age, Jaundice, Dilated cardi... |
OMIM:619573 |
Onychotrichodysplasia And Neutropenia |
|
Chronic irritative conjunctivitis, Short eyelashes, Curly eyelashes |
OMIM:258360 |
Cerebellar, Ocular, Craniofacial, And Genital Syndrome |
|
Laterally extended eyebrow, Synophrys, Gait ataxia, Keratoconjunctivitis sicca, Long eyelashes |
OMIM:618479 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Spasticity, Muscular dystrophy, Opacification of the corneal stroma, Myoclonus, Megaloc... |
OMIM:253280 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Telecanthus, Decreased muscle mass, Small for gestational age, Elbow contracture... |
OMIM:208150 |
Renal Hypodysplasia/Aplasia 1 |
|
Hypertension, Pulmonary hypoplasia |
OMIM:191830 |
Fontaine Progeroid Syndrome |
|
Hypoplasia of the abdominal wall musculature, Synophrys, Neonatal death, Recurrent aspiration pne... |
OMIM:612289 |
Kniest Dysplasia |
|
Hip contracture, Cataract, Short neck, Coronal cleft vertebrae, Platyspondyly, Lumbar kyphoscolio... |
OMIM:156550 |
Achondroplasia |
|
Death in infancy, Lumbar hyperlordosis, Lumbar kyphosis in infancy, Pulmonary hypoplasia, Spinal ... |
OMIM:100800 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia, Hypotension |
OMIM:267430 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Recurrent pneumonia, Vasculitis, Hematochezia, Subconjunctival hemorrhage, Inflammatio... |
OMIM:617718 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Macroglossia, Bradycardia |
OMIM:218700 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cataract, Corneal opacity, Congenital contracture, Megalocornea, Congenital muscular dystrophy |
OMIM:236670 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Knee flexion contracture, Weakness of facial musculature, Cyanosis, Ptosis |
OMIM:617239 |
Meacham Syndrome |
|
Death in infancy, Aplasia of the right hemidiaphragm, Partial anomalous pulmonary venous return, ... |
OMIM:608978 |
Phacoanaphylactic Uveitis |
|
Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, ... |
ORPHA:209959 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Epicanthus, Kyphoscoliosis, Upslanted palpebral fissure, Astigmatism, Epicanthus inversus, Short ... |
OMIM:618820 |
Intellectual Developmental Disorder, Autosomal Recessive 78 |
|
Kyphoscoliosis |
OMIM:620237 |
Say-Barber-Miller Syndrome |
|
Thoracic kyphoscoliosis, Eczema, Highly arched eyebrow, Sparse eyebrow, Erythema nodosum, Babinsk... |
ORPHA:3132 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Shortened QT interval, Pancreatitis |
ORPHA:99880 |
Pagod Syndrome |
|
Death in infancy, Congenital diaphragmatic hernia, Sudden cardiac death, Pulmonary artery hypopla... |
ORPHA:991 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Epicanthus, Congenital diaphragmatic hernia, Large for gestational age, Tremor, Choreoathetosis, ... |
OMIM:614080 |
Coffin-Lowry Syndrome |
|
Telecanthus, Cutis marmorata, Highly arched eyebrow, Kyphosis, Lumbar kyphosis, Mitral regurgitat... |
OMIM:303600 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absent lacrimal punctum, Telecanthus, Hypoplastic lacrimal duct, Hypoplasia of the lacrimal punct... |
OMIM:149730 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Cataract, Band keratopathy, Hepatitis, Chronic mucocutaneous candidiasis, Chronic hepatitis, Kera... |
OMIM:269200 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Upslanted palpebral fissure, Abnormally ossified vertebrae, Pulmonary hypoplasia |
ORPHA:3035 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Hip contracture, Kyphoscoliosis, Minimal subcutaneous fat, Knee flexion contracture |
OMIM:210730 |
Atelosteogenesis Type Ii |
|
Epicanthus, Telecanthus, Cervical kyphosis, Thoracolumbar kyphoscoliosis, Short neck, Elbow flexi... |
ORPHA:56304 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Aggressive behavior, Flexion contracture, Ragged-red muscle fibers, Rhab... |
ORPHA:17 |
Cardiac Valvular Dysplasia 1 |
|
Tricuspid regurgitation, Cyanosis, Tricuspid stenosis, Valvular pulmonary stenosis, Mitral regurg... |
OMIM:212093 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Corneal opacity, Corneal dystrophy, Short neck, Sparse eyebrow, Synophrys, Slurred speech, Kerato... |
ORPHA:495875 |
Mosaic Trisomy 1 |
|
Thoracic scoliosis, Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow flexion contr... |
ORPHA:1692 |
Oligomeganephronia |
|
Pulmonary venous occlusion, Small for gestational age, Congenital diaphragmatic hernia, Hypertens... |
ORPHA:2260 |
Heterotaxy, Visceral, 7, Autosomal |
|
Pulmonary artery atresia, Pulmonary artery hypoplasia, Cyanosis, Total anomalous pulmonary venous... |
OMIM:616749 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Miscarriage, Respiratory infections in early life, Contractures of the large joints, C1-C2 verteb... |
ORPHA:96179 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Cyanosis, Right ventricul... |
ORPHA:99125 |
Pelizaeus-Merzbacher Disease In Female Carriers |
|
Hand apraxia, Babinski sign, Lower limb spasticity, Spastic paraparesis |
ORPHA:280229 |
Microcephaly-Micromelia Syndrome |
|
Neonatal death, Pulmonary hypoplasia, Short palpebral fissure, Short neck |
OMIM:251230 |
Matthew-Wood Syndrome |
|
Abnormal lung morphology, Failure to thrive, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
ORPHA:2470 |
Native American Myopathy |
|
Skeletal muscle atrophy, Short stature, Abnormality of skeletal muscle fiber size, Congenital con... |
ORPHA:168572 |
Teebi Hypertelorism Syndrome 1 |
|
Highly arched eyebrow, Bilateral ptosis, Upslanted palpebral fissure, Pulmonary hypoplasia, Downs... |
OMIM:145420 |
Classical Ehlers-Danlos Syndrome |
|
Epicanthus, Orthostatic hypotension, Prematurely aged appearance, Poor wound healing, Dermatochal... |
ORPHA:287 |
Glycogen Storage Disease Xii |
|
Short stature, Myopathy, Delayed puberty, Increased variability in muscle fiber diameter, Muscle ... |
OMIM:611881 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Cyanosis, Impaired pain sensation, Recurrent upper respiratory tract infections, Obesity, Scolios... |
ORPHA:293987 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Progressive spastic paraparesis, Progressive spastic quadriplegia, Progressive gait ataxia, Progr... |
ORPHA:329308 |
Adrenomyeloneuropathy |
|
Back pain, Dysesthesia, Progressive spastic paraparesis, Babinski sign, Distal sensory impairment... |
ORPHA:139399 |
Multiple Endocrine Neoplasia Type 1 |
|
Shortened QT interval, Hematemesis, Weight loss, Melena, Hypertension |
ORPHA:652 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Spasticity, Muscular dystrophy, Opacification of the corneal stroma |
OMIM:615287 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Portal hypertension, Hematemesis, Hypertension, Pulmonary hypoplasia, Neonatal death |
OMIM:263200 |
Osteogenesis Imperfecta |
|
Aortic regurgitation, Somatic sensory dysfunction, Corneal opacity, Ataxia, Cerebral hemorrhage, ... |
ORPHA:666 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia, Hypercapnia |
OMIM:601887 |
Monosomy 22Q13.3 |
|
Epicanthus, Sacral dimple, Recurrent skin infections, Palpebral edema, Impaired pain sensation, H... |
ORPHA:48652 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Keratoconjunctivitis sicca, Colitis, Weight loss |
ORPHA:309031 |
Neuromuscular Oculoauditory Syndrome |
|
Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber necrosis, EMG: myopathic abnormal... |
OMIM:618733 |
Pallister-Killian Syndrome |
|
Telecanthus, Cataract, Sparse eyelashes, Epicanthus, Congenital diaphragmatic hernia, Sacral dimp... |
OMIM:601803 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Increased variability in muscle fiber diameter, Ragged-red muscle fibers |
ORPHA:70595 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Death in infancy, Recurrent respiratory infections, Jaundice, Pulmonary hypoplasia, Pulmonary ins... |
OMIM:208500 |
Smith-Lemli-Opitz Syndrome |
|
Epicanthus, Cataract, Cutis marmorata, Sclerocornea, Congenital diaphragmatic hernia, Abnormal ey... |
ORPHA:818 |
Agnathia-Otocephaly Complex |
|
Downslanted palpebral fissures, Pulmonary hypoplasia |
OMIM:202650 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Failure to thrive, Ragged-red muscle fibers |
OMIM:614924 |
Platyspondylic Dysplasia, Torrance Type |
|
Platyspondyly, Pulmonary hypoplasia |
ORPHA:85166 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Hair-pulling, Epicanthus, Downslanted palpebral fissures, Ataxia |
OMIM:616393 |
Raine Syndrome |
|
Death in infancy, Highly arched eyebrow, Short neck, Pulmonary hypoplasia, Neonatal death, Arthro... |
OMIM:259775 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Diaphragmatic eventration, Aortopulmonary window, Coronal cleft vertebrae, Pulmonary artery hypop... |
OMIM:620025 |
Otopalatodigital Syndrome Type 2 |
|
Failure to thrive, Cataract, Camptodactyly of finger, Pulmonary hypoplasia, Scoliosis, Abnormal v... |
ORPHA:90652 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Epicanthus, Kyphoscoliosis, Short neck, Obesity, Upslanted palpebral fissure, Macroglossia, Lower... |
OMIM:309580 |
Pmm2-Cdg |
|
Epicanthus, Pericarditis, Cataract, Angina pectoris, Multiple joint contractures, Ataxia, Kyphosc... |
ORPHA:79318 |
Alg9-Cdg |
|
Lower limb spasticity, Telecanthus, Tricuspid regurgitation, Torticollis, Hypoplasia of the muscu... |
ORPHA:79328 |
Generalized Arterial Calcification Of Infancy |
|
Cyanosis, Transient ischemic attack, Failure to thrive in infancy, Abnormal retinal artery morpho... |
ORPHA:51608 |
Melas |
|
Exercise intolerance, Short stature, Ragged-red muscle fibers, Myopathy, Failure to thrive, Abnor... |
ORPHA:550 |
Achondrogenesis, Type Ia |
|
Hypoplastic sacrum, Short neck, Stillbirth, Pulmonary hypoplasia, Unossified vertebral bodies |
OMIM:200600 |
Congenital Tracheal Stenosis |
|
Cyanosis, Abnormal lung morphology, Abnormal lung lobation, Pulmonary artery atresia, Anomalous o... |
ORPHA:141127 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Erythema, Flexion contracture, Stillbirth, Pulmonary hypoplasia, Scoliosis, Vertebral hypoplasia |
OMIM:308050 |
Otopalatodigital Syndrome, Type Ii |
|
Cataract, Elbow contracture, Kyphoscoliosis, Short neck, Platyspondyly, Stillbirth, Spondylolysis... |
OMIM:304120 |
Smith-Lemli-Opitz Syndrome |
|
Death in infancy, Epicanthus, Cataract, Sacral dimple, Eczema, Abnormal lung lobation, Severe pho... |
OMIM:270400 |
Atrial Septal Defect 1 |
|
Second degree atrioventricular block, Aortic valve stenosis |
OMIM:108800 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Epicanthus, Pulmonary hypoplasia, Aplasia/Hypoplasia of the eyebrow |
OMIM:614091 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Decreased muscle mass, Elbow flexion contracture, EMG: myopathic abnormalities, Wrist drop, Muscl... |
ORPHA:1900 |
Greenberg Dysplasia |
|
Abnormal lung lobation, Punctate vertebral calcifications, Hypoplastic vertebral bodies, Horizont... |
OMIM:215140 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Hemivertebrae, Pulmonary hypoplasia, Supernumerary... |
OMIM:271520 |
Acrocephalopolydactylous Dysplasia |
|
Epicanthus, Short neck, Upslanted palpebral fissure, Pulmonary hypoplasia, Extrapulmonary sequestrum |
OMIM:200995 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Pulmonary hypoplasia |
OMIM:617895 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Increased muscle lipid content, Abnormality of the calf musculature, Skeletal myopathy, Abnormali... |
ORPHA:565612 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Congenital diaphragmatic hernia, Pulmonary artery stenosis, Bilateral lung agenesis, Congenital p... |
OMIM:611812 |
Microphthalmia, Syndromic 1 |
|
Lumbar hyperlordosis, Kyphoscoliosis, Spastic diplegia, Microcornea, Ciliary body coloboma, Pulmo... |
OMIM:309800 |
Fryns Syndrome |
|
Short neck, Large for gestational age, Narrow palpebral fissure, Aplasia of the left hemidiaphrag... |
OMIM:229850 |
Microphthalmia, Syndromic 2 |
|
Flexion contracture, Developmental cataract, Microcornea, Contracture of the proximal interphalan... |
OMIM:300166 |
Idiopathic Panuveitis |
|
Conjunctival hyperemia, Cataract, Red eye, Posterior synechiae of the anterior chamber |
ORPHA:280921 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Peritonitis, Pyelonephritis, Bidirectional shunt, Elevated pulmonary artery pressure, Pulmonary h... |
OMIM:619351 |
Distal Deletion 15Q |
|
Small for gestational age, Congenital diaphragmatic hernia, Upslanted palpebral fissure, Pulmonar... |
ORPHA:1596 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Epicanthus, Telecanthus, Pain insensitivity, Eczema, Short neck, Hair-pulling, Recurrent pneumoni... |
OMIM:620330 |
Floating-Harbor Syndrome |
|
Speech apraxia, Small for gestational age, Kyphoscoliosis, Short neck |
ORPHA:2044 |
Pentalogy Of Cantrell |
|
Scoliosis, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
ORPHA:1335 |
Floating-Harbor Syndrome |
|
Kyphoscoliosis, Short neck, Atopic dermatitis, Long eyelashes, Recurrent otitis media |
OMIM:136140 |
Fryns Syndrome |
|
Corneal opacity, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Short neck |
ORPHA:2059 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Failure to thrive, Ragged-red muscle fibers, Dysphagia |
ORPHA:255210 |
Renal Agenesis, Bilateral |
|
Epicanthus, Pulmonary hypoplasia, Abnormal sacrum morphology |
ORPHA:1848 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Neonatal death, Aortic valve stenosis, Pulmonary hypoplasia, Portal hypertension |
OMIM:208540 |
Neu-Laxova Syndrome 1 |
|
Ablepharon, Cataract, Short neck, Absent eyelashes, Yellow subcutaneous tissue covered by thin, s... |
OMIM:256520 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Arthrogryposis multiplex congenita, Pulmonary hypoplasia |
ORPHA:86822 |
Genitopatellar Syndrome |
|
Hip contracture, Arthrogryposis multiplex congenita, Pulmonary hypoplasia, Knee flexion contracture |
ORPHA:85201 |
Juvenile Xanthogranuloma |
|
Hyphema, Uveitis, Asymmetry of iris pigmentation, Iritis, Blepharitis |
ORPHA:158000 |
Joubert Syndrome 21 |
|
Ataxia, Pulmonary hypoplasia, Oculomotor apraxia, Chronic sinusitis, Ptosis |
OMIM:615636 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Hemivertebrae, Abnormal form of the vertebral bodies, Microcornea, Pulmona... |
ORPHA:3412 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Epicanthus, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermatiti... |
ORPHA:83617 |
Renal Agenesis |
|
Hypertension, Pulmonary hypoplasia |
ORPHA:411709 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Exercise intolerance, Rhabdomyolysis, Ragged-red muscle fibers, Neonatal death, Failure to thrive |
OMIM:124000 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Sparse eyebrow, Stillbirth, Pulmonary hypoplasia |
OMIM:616300 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Failure to thrive, Pulmonary hypoplasia |
OMIM:615503 |
Mosaic Trisomy 16 |
|
Small for gestational age, Abnormal lung morphology, Abnormality of the cervical spine, Pulmonary... |
ORPHA:1708 |
Tetrasomy 9P |
|
Epicanthus, Myositis, Pericarditis, Sacral dimple, Short neck, Raynaud phenomenon, Jaundice, Arth... |
ORPHA:3310 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Platyspondyly, Tricuspid regurgitation, Pulmonary hypoplasia |
OMIM:263520 |
Ring Chromosome 7 Syndrome |
|
Unilateral ptosis, Epicanthus, Highly arched eyebrow, Bilateral ptosis, Heart murmur, Lumbar kyph... |
ORPHA:1449 |
Argininemia |
|
Progressive spastic quadriplegia, Frequent falls, Spastic gait, Spastic paraparesis |
OMIM:207800 |
Trichotillomania |
|
Hair-pulling |
OMIM:613229 |
Blomstrand Lethal Chondrodysplasia |
|
Telecanthus, Cataract, Pulmonary hypoplasia, Platyspondyly |
ORPHA:50945 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Spontaneous pneumothorax, Cholangitis, Portal hypertension, Jaundice... |
ORPHA:731 |
Restrictive Dermopathy |
|
Thoracic kyphoscoliosis, Telecanthus, Entropion, Multiple joint contractures, Camptodactyly of fi... |
ORPHA:1662 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Neonatal death, Pulmonary hypoplasia, Short neck |
OMIM:617925 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Pulmonary hypoplasia, Congenital diaphragmatic hernia, Short neck |
OMIM:616546 |
Meckel Syndrome, Type 6 |
|
Bilobed right lung, Pulmonary hypoplasia |
OMIM:612284 |
Cardiac-Urogenital Syndrome |
|
Tachycardia, Congenital diaphragmatic hernia, Partial anomalous pulmonary venous return, Pulmonar... |
OMIM:618280 |
Meckel Syndrome, Type 1 |
|
Camptodactyly of finger, Short neck, Pulmonary hypoplasia, Epicanthus inversus, Iris coloboma, Pt... |
OMIM:249000 |
Thoracoabdominal Syndrome |
|
Pulmonary hypoplasia, Congenital diaphragmatic hernia |
OMIM:313850 |
Orofaciodigital Syndrome Type 4 |
|
Recurrent respiratory infections, Camptodactyly of finger, Bilateral lung agenesis, Pulmonary hyp... |
ORPHA:2753 |
Fraser Syndrome 1 |
|
Absent eyebrow, Corneal opacity, Absent eyelashes, Upper eyelid coloboma, Lacrimal duct aplasia, ... |
OMIM:219000 |
Fraser Syndrome |
|
Death in infancy, Abnormal lung lobation, Lacrimal duct aplasia, Malformed lacrimal duct, Vertebr... |
ORPHA:2052 |
Tetraamelia Syndrome 1 |
|
Peripheral pulmonary vessel aplasia, Cataract, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
OMIM:273395 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Hemivertebrae, Pulmonary hypoplasia |
ORPHA:1112 |
Craniofacial Microsomia 1 |
|
Block vertebrae, Hypoplasia of facial musculature, Blepharophimosis, Hemivertebrae, Upper eyelid ... |
OMIM:164210 |
Genitopatellar Syndrome |
|
Hip contracture, Knee flexion contracture, Pulmonary hypoplasia, Scoliosis, Downslanted palpebral... |
OMIM:606170 |
Singleton-Merten Syndrome 1 |
|
Muscle fiber atrophy, Short stature, Tendon rupture, Decreased body weight |
OMIM:182250 |
Ulbright-Hodes Syndrome |
|
Pneumothorax, Ovoid thoracolumbar vertebrae, Pulmonary hypoplasia, Short neck |
ORPHA:3404 |
Mckusick-Kaufman Syndrome |
|
Pulmonary hypoplasia |
OMIM:236700 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Epicanthus, Cataract, Pulmonary hypoplasia, Absent or minimally ossified vertebral bodies |
ORPHA:93271 |
Penile Agenesis |
|
Bilateral lung agenesis, Pulmonary hypoplasia |
ORPHA:49 |