Distal Myopathy With Posterior Leg And Anterior Hand Involvement |
|
Somatic sensory dysfunction, Fatiguable weakness of proximal limb muscles, Inability to walk, Res... |
ORPHA:63273 |
Myopathy, Distal, 5 |
|
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... |
OMIM:617030 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... |
OMIM:609115 |
Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Cardiomyopathy... |
ORPHA:603 |
Hereditary Myopathy With Early Respiratory Failure |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Neck flexor weakness, Type ... |
ORPHA:178464 |
Myopathy, Distal, 4 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... |
OMIM:614065 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Distal muscle weakness, Autophagic vacuoles, Facial hypotonia, Proximal m... |
ORPHA:266 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Gowers sign, Flexion contractu... |
OMIM:253700 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles |
OMIM:609500 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Waddling gait, Reduced vital capacity, Scapular winging, Neck flexor weakness, Calf muscle pseudo... |
OMIM:608358 |
Cardiomyopathy, Dilated, 1M |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:607482 |
Carnitine Deficiency, Myopathic |
|
Myopathy, Reduced muscle carnitine level |
OMIM:212160 |
Gne Myopathy |
|
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
Inclusion Body Myositis |
|
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... |
ORPHA:611 |
Nonaka Myopathy |
|
Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu... |
OMIM:605820 |
Myopathy, Myofibrillar, 3 |
|
Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclus... |
OMIM:609200 |
Cardiomyopathy, Dilated, 2A |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:611880 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Progressive distal muscle weakness, Respirato... |
ORPHA:399058 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... |
OMIM:618655 |
Nemaline Myopathy 6 |
|
Skeletal muscle atrophy, Limb muscle weakness, Nemaline bodies, Myopathy |
OMIM:609273 |
Tibial Muscular Dystrophy |
|
Centrally nucleated skeletal muscle fibers, Ankle weakness, Quadriceps muscle weakness, Peroneal ... |
ORPHA:609 |
Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Skeletal muscle atrophy, Congenital contracture, Arthrogryposis multiplex congenita, Myopathy |
OMIM:208100 |
Klhl9-Related Early-Onset Distal Myopathy |
|
Progressive distal muscle weakness, Ankle flexion contracture, Amyotrophy of ankle musculature, I... |
ORPHA:399081 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Myopathy, Asymmetric septal hypertrophy |
OMIM:212130 |
Cardiomyopathy, Dilated, 1W |
|
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... |
OMIM:611407 |
Cardiomyopathy, Dilated, 1Cc |
|
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... |
OMIM:613122 |
Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Autosomal Dominant Spastic Paraplegia Type 31 |
|
Hand muscle weakness, Impaired proprioception, Distal sensory impairment, Proximal muscle weaknes... |
ORPHA:101011 |
Polyglucosan Body Myopathy 2 |
|
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we... |
OMIM:616199 |
Adult-Onset Nemaline Myopathy |
|
Reduced vital capacity, Neck flexor weakness, Respiratory insufficiency due to muscle weakness, D... |
ORPHA:171442 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Waddling gait, Proximal muscle weakness, Gowers sign, Unsteady gait, Dilated cardiomyopathy, Myop... |
OMIM:612937 |
Inclusion Body Myositis |
|
Distal muscle weakness, Proximal muscle weakness, Inflammatory myopathy, Dysphagia, Rimmed vacuoles |
OMIM:147421 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... |
OMIM:618848 |
Myopathy, Myofibrillar, 2 |
|
Orthopnea, Distal muscle weakness, Respiratory insufficiency due to muscle weakness, Limb-girdle ... |
OMIM:608810 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Waddling gait, Respiratory distress, Proximal muscle weakness, Abdominal pain, Limb-girdle muscle... |
ORPHA:86812 |
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 |
Myopathy, Myofibrillar, 5 |
|
Waddling gait, Proximal muscle weakness, Respiratory insufficiency, Muscle fiber cytoplasmatic in... |
OMIM:609524 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Cardiomyopathy, Dilated, 1Jj |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy |
OMIM:615235 |
Cardiomyopathy, Dilated, 1Ff |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... |
OMIM:613286 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ... |
OMIM:302045 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re... |
OMIM:617610 |
Bethlem Myopathy 1 |
|
Skeletal muscle atrophy, Torticollis, Distal muscle weakness, Congenital muscular torticollis, Ca... |
OMIM:158810 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... |
OMIM:601954 |
Oculopharyngeal Muscular Dystrophy 1 |
|
Distal muscle weakness, Facial palsy, Proximal muscle weakness, Gait disturbance, Neck muscle wea... |
OMIM:164300 |
Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Bulbar palsy, Sudden episodic apnea, Respiratory insufficiency due to muscl... |
OMIM:605809 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur... |
OMIM:608099 |
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Neck flexor weakness, Elbow contracture, Ankle contracture, Proximal muscle weak... |
OMIM:620386 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Proximal muscle weakness, Fatty replacement of skeletal muscle, Respiratory insufficiency, Feedin... |
OMIM:255100 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
Cardiomyopathy, Dilated, 1L |
|
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... |
OMIM:606685 |
Cardiomyopathy, Dilated, 1Ee |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... |
OMIM:613252 |
Distal Nebulin Myopathy |
|
Neck flexor weakness, Progressive distal muscle weakness, Ankle flexion contracture, Fatty replac... |
ORPHA:399103 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy... |
OMIM:608807 |
Congenital Myopathy 6 With Ophthalmoplegia |
|
Waddling gait, Scapular winging, Distal muscle weakness, Muscle fiber inclusion bodies, Proximal ... |
OMIM:605637 |
Congenital Myopathy 4B, Autosomal Recessive |
|
Distal lower limb amyotrophy, Proximal muscle weakness, Nemaline bodies, Generalized muscle weakn... |
OMIM:609284 |
Cardiomyopathy, Dilated, 1X |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Calf muscle hypertrophy,... |
OMIM:611615 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Waddling gait, Proximal muscle weakness, Chorea, Right ventricular dilatation, Restrictive ventil... |
ORPHA:369840 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Progressive proximal muscle weakness, Chorea, Right ventricular dilatation, Restrictive ventilato... |
ORPHA:369847 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Death in infancy, Poor head control, Respiratory failure requiring assisted ventilation, Nemaline... |
OMIM:620265 |
Mitochondrial Myopathy With Diabetes |
|
Ataxia, Facial palsy, Proximal muscle weakness, Ragged-red muscle fibers, Proximal amyotrophy, EM... |
OMIM:500002 |
Cardiomyopathy, Dilated, 1Dd |
|
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... |
OMIM:613172 |
Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... |
ORPHA:2593 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea... |
OMIM:181350 |
Cardiomyopathy, Dilated, 1Kk |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... |
OMIM:615248 |
Oculopharyngodistal Myopathy 2 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... |
OMIM:618940 |
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Peroneal muscle atrophy, Scapuloperoneal weakness, Z-band streaming, Shoulder girdle muscle atrop... |
OMIM:181400 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Card... |
OMIM:612999 |
Nemaline Myopathy 8 |
|
Death in infancy, Facial palsy, Flexion contracture, Ophthalmoparesis, Respiratory failure, Dysph... |
OMIM:615348 |
Cardiomyopathy, Dilated, 1J |
|
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... |
OMIM:605362 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... |
OMIM:604286 |
Rigid Spine Syndrome |
|
Waddling gait, Skeletal muscle atrophy, Poor head control, Hip contracture, Pneumonia, Gowers sig... |
ORPHA:97244 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Waddling gait, Bulbar palsy, Facial palsy, Gowers sign, Dyspnea, Flexion contracture, Dysphagia, ... |
OMIM:603511 |
Nemaline Myopathy 5C, Autosomal Dominant |
|
Waddling gait, Skeletal muscle atrophy, Poor head control, Scapular winging, Proximal muscle weak... |
OMIM:620389 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Facial palsy, Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibe... |
OMIM:300580 |
Cardiomyopathy, Dilated, 1Hh |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy |
OMIM:613881 |
Facial Onset Sensory And Motor Neuronopathy |
|
Skeletal muscle atrophy, Paresthesia, Muscle weakness, Dysphagia |
ORPHA:85162 |
Myopathy, Distal, Tateyama Type |
|
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... |
OMIM:614321 |
Cardiomyopathy, Dilated, 1Gg |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... |
OMIM:613642 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 9 |
|
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation |
OMIM:616500 |
Fingerprint Body Myopathy |
|
Myopathy |
OMIM:305550 |
Congenital Myopathy With Myasthenic-Like Onset |
|
Scapular winging, Multiple joint contractures, Proximal muscle weakness, Respiratory insufficienc... |
ORPHA:424107 |
Batten-Turner Congenital Myopathy |
|
Myopathy |
OMIM:255300 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Left atrial enlargement, Facial palsy,... |
OMIM:160500 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Neck flexor weakness, Weakness of long finger extensor muscles, Upper li... |
ORPHA:98913 |
Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
Acetyl-Coa Carboxylase Deficiency |
|
Myopathy |
OMIM:613933 |
Nemaline Myopathy 7 |
|
Waddling gait, Respiratory insufficiency due to muscle weakness, Gowers sign, Fatty replacement o... |
OMIM:610687 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter |
ORPHA:1878 |
Spinal Muscular Atrophy, Type Iv |
|
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... |
OMIM:271150 |
Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Respiratory insufficiency due to muscle weakness, Feeding difficulties in ... |
OMIM:603034 |
Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
Sensorineural Deafness With Dilated Cardiomyopathy |
|
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy |
ORPHA:217622 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... |
OMIM:619897 |
Myopathy, Sarcoplasmic Body |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... |
OMIM:620286 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Progressive external ophthalmoplegia, Gowers sign, Dyspnea, Ophthalmoparesis, Myopathy, Shoulder ... |
OMIM:615156 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart |
ORPHA:3283 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Myopathy |
ORPHA:88635 |
Myopathy And Diabetes Mellitus |
|
Impaired vibratory sensation, Respiratory distress, Distal lower limb amyotrophy, Inability to wa... |
ORPHA:2596 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Progressive external ophthalmoplegia, Bulbar palsy, Distal muscle weakness,... |
ORPHA:254875 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Inability to walk, Impaired distal vibration sensation, ... |
ORPHA:276435 |
Oculopharyngeal Muscular Dystrophy |
|
Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology |
ORPHA:270 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... |
ORPHA:34516 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl... |
OMIM:618129 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Congestive heart failure, Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contr... |
ORPHA:206546 |
Spastic Paraplegia 31, Autosomal Dominant |
|
Skeletal muscle atrophy, Distal sensory impairment, Distal amyotrophy, Dysphagia, Lower limb musc... |
OMIM:610250 |
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency |
|
Myopathy, Respiratory insufficiency, Muscle weakness, Feeding difficulties |
OMIM:616314 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Waddling gait, Bulbar palsy, Neck flexor weakness, Facial palsy, Proximal muscle weakness, Respir... |
OMIM:161800 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
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 |
Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
Cardiomyopathy, Dilated, 1Z |
|
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death |
OMIM:611879 |
Myopathy, Distal, With Anterior Tibial Onset |
|
Loss of ambulation, Myopathy, Proximal muscle weakness |
OMIM:606768 |
Myopathy, Myofibrillar, 6 |
|
Scapular winging, Distal muscle weakness, Facial palsy, Proximal muscle weakness, Reduced forced ... |
OMIM:612954 |
Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
ORPHA:34587 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Waddling gait, Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Neck flexor weakness,... |
OMIM:254110 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Thenar muscle atrophy, Dilated cardiomyopathy, Distal lower limb muscle weakness, Interosseus mus... |
OMIM:619903 |
Distal Myotilinopathy |
|
Multiple joint contractures, Progressive distal muscle weakness, Progressive proximal muscle weak... |
ORPHA:98911 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Reduced vital capacity, Scapular winging, Neck flexor weakness, Proximal muscle weakness, Quadric... |
OMIM:603689 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Reduced muscle fiber alpha dystroglycan, Dilated cardiomyopathy, Calf muscle hypertrophy, Shoulde... |
ORPHA:34515 |
Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Distal muscle weakness, Progressive muscle weakness, Dilated cardiomyopa... |
ORPHA:59135 |
Mitochondrial Complex I Deficiency, Nuclear Type 25 |
|
Myopathy, Failure to thrive, Nemaline bodies |
OMIM:618246 |
Perching Syndrome |
|
Respiratory distress, Cyanosis, Feeding difficulties, Dysphagia, Joint contracture, Camptodactyly |
OMIM:617055 |
Zebra Body Myopathy |
|
Waddling gait, Torticollis, Distal muscle weakness, Autophagic vacuoles, Facial palsy, Proximal m... |
ORPHA:97240 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Progressive distal muscle weakness, Fatty replacement of skeletal muscle, Progressive proximal mu... |
ORPHA:399086 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Flexion contracture, Impaired tactile ... |
OMIM:619216 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Bulbar palsy, Sudden episodic apnea, Respiratory insufficiency due to muscl... |
OMIM:254210 |
Childhood-Onset Nemaline Myopathy |
|
Flexion contracture, Neuromuscular dysphagia, Increased muscle lipid content, Type 1 muscle fiber... |
ORPHA:171439 |
Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... |
ORPHA:168796 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:... |
OMIM:253601 |
Multiminicore Myopathy |
|
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne... |
ORPHA:598 |
Lethal Congenital Contracture Syndrome 3 |
|
Skeletal muscle atrophy, Multiple joint contractures, Respiratory insufficiency, Neonatal death, ... |
OMIM:611369 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Scapular winging, Distal muscle weakness, Autophagic vacuoles, Centrally nucleated skeletal muscl... |
OMIM:608423 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Poor head control, Facial palsy, Camptodactyly of finger, Diaphragmatic par... |
OMIM:614399 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Impaired vibratory sensation, Waddling gait, Somatic sensory dysfunction, Proximal muscle weaknes... |
OMIM:616924 |
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Myopathy, Scapulohumeral muscular dystrophy |
OMIM:160570 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:619733 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Myopathy |
ORPHA:206599 |
Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hypertrophy... |
OMIM:619178 |
Barth Syndrome |
|
Dilated cardiomyopathy, Endocardial fibroelastosis |
ORPHA:111 |
Myopathy, Myofibrillar, 1 |
|
Bulbar palsy, Distal muscle weakness, Facial palsy, Respiratory insufficiency due to muscle weakn... |
OMIM:601419 |
Merrf |
|
Myopathy, Ragged-red muscle fibers |
ORPHA:551 |
Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Neck flexor weakness, Apnea, Fatty replacement of skeletal muscle, Flexi... |
OMIM:256030 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Dilated cardiomyopathy, Flexion contracture, Increased variability in muscle fiber diameter, Musc... |
OMIM:300718 |
Cardiomyopathy, Dilated, 1Bb |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:612877 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio... |
OMIM:611705 |
Cardiomyopathy, Dilated, 1K |
|
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm |
OMIM:605582 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S... |
OMIM:300696 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Proximal muscle weakness in upper limbs, Skeletal muscle atrophy, Shoulder flexion contracture, R... |
OMIM:619566 |
Myopathy, Tubular Aggregate, 1 |
|
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi... |
OMIM:160565 |
Welander Distal Myopathy |
|
Distal amyotrophy, Rimmed vacuoles |
OMIM:604454 |
Microcephaly-Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:251220 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability... |
OMIM:613204 |
Bethlem Myopathy 2 |
|
Myopathy, Scapular winging, Flexion contracture, Increased variability in muscle fiber diameter |
OMIM:616471 |
Microcephaly-Cardiomyopathy Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect, Dilated cardiomyopathy, Short stature |
ORPHA:2515 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... |
OMIM:616313 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Distal amyotrophy, Type 1 muscle fiber predominance, Increased variability in mu... |
OMIM:619042 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy |
OMIM:611283 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Elevated jugular venous pressure, Short stature, Muscle fiber hyaline bodie... |
OMIM:255160 |
Cardiomyopathy, Familial Hypertrophic, 3 |
|
Hypertrophic cardiomyopathy, Sudden cardiac death |
OMIM:115196 |
Carvajal Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy |
ORPHA:65282 |
Muscle Filaminopathy |
|
Scapular winging, Neck flexor weakness, Fatty replacement of skeletal muscle, Respiratory insuffi... |
ORPHA:171445 |
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:2597 |
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Myopathy, Type 1 muscle fiber... |
OMIM:605355 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Distal muscle weakness, Ataxia, Proximal muscle weakness, External ophthalmoplegia, Gastrointesti... |
OMIM:618637 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Progressive external ophthalmoplegia, Multiple joint contractures, Limb-girdle muscle weakness, G... |
ORPHA:352470 |
Spinal Muscular Atrophy, Facioscapulohumeral Type |
|
Skeletal muscle atrophy, Spinal muscular atrophy |
OMIM:182970 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Somatic sensory dysfunction, Fatiguable weakn... |
ORPHA:90117 |
Dpm3-Cdg |
|
Dilated cardiomyopathy, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weaknes... |
ORPHA:263494 |
Oculopharyngodistal Myopathy |
|
Oral-pharyngeal dysphagia, Loss of ambulation, Recurrent aspiration pneumonia, Foot dorsiflexor w... |
ORPHA:98897 |
Congenital Myopathy 10B, Mild Variant |
|
Neck flexor weakness, Elbow contracture, Reduced forced vital capacity, Progressive muscle weakne... |
OMIM:620249 |
Rhabdomyolysis, Susceptibility To, 1 |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,... |
OMIM:620235 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca... |
ORPHA:206559 |
Lethal Congenital Contracture Syndrome 8 |
|
Death in infancy, Oral-pharyngeal dysphagia, Flexion contracture, Distal sensory impairment, Feed... |
OMIM:616287 |
Scapuloperoneal Myopathy, X-Linked Dominant |
|
Waddling gait, Skeletal muscle atrophy, Scapular winging, Proximal muscle weakness, Achilles tend... |
OMIM:300695 |
Cardiomyopathy, Dilated, 2C |
|
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy |
OMIM:618189 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Congestive heart failure, Dilated cardiomyopathy, Arrhythmia, Intrauterine growth retardation, Hy... |
OMIM:616198 |
Myopathy, Myofibrillar, 4 |
|
Autophagic vacuoles, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle ... |
OMIM:609452 |
Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomyopathy, Do... |
OMIM:617912 |
Cardiomyopathy, Dilated, 1Q |
|
Dilated cardiomyopathy |
OMIM:609915 |
Cardiomyopathy, Dilated, 1H |
|
Dilated cardiomyopathy |
OMIM:604288 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617760 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Myopathy, Hypertrophic cardiomyopathy, Cyanosis |
ORPHA:91130 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Poor head control, Flexion contracture, Feeding difficulties, Myopathy, Generalized amyotrophy, D... |
OMIM:618323 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Proximal ... |
OMIM:167320 |
Heart-Hand Syndrome, Slovenian Type |
|
Myopathy, Dilated cardiomyopathy |
OMIM:610140 |
Glycogen Storage Disease 0, Muscle |
|
Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla... |
OMIM:611556 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Skeletal muscle atrophy, Reduced systolic function, Dilated cardiomyopathy, Macroglossia, Calf mu... |
OMIM:616827 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Myopathy, Ragged-red muscle fibers, Ataxia, Muscle weakness |
OMIM:545000 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Myopathy |
ORPHA:2579 |
Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... |
ORPHA:488650 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Death in infancy, Poor head control, Skeletal muscle atrophy, Flexion contracture, Respiratory in... |
ORPHA:157973 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Facial palsy, Quadriceps muscle atrophy, Calf muscle hypertrophy, Shoulder girdle muscle weakness... |
OMIM:611307 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Nasogastric tube feedin... |
ORPHA:254864 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Intrauterine growth retardation, Dilated cardiomyopathy, Short stature |
OMIM:618097 |
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Scapular winging, Distal muscle weakness, Neck flexor weakness, Centrally nucleated skeletal musc... |
OMIM:601846 |
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... |
OMIM:117000 |
Sandhoff Disease, Adult Form |
|
Gait ataxia, Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Dysphagia, Musc... |
ORPHA:309169 |
Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Generalized muscle weakness, Flexion cont... |
ORPHA:171433 |
Cardiomyopathy, Familial Hypertrophic, 9 |
|
Hypertrophic cardiomyopathy |
OMIM:613765 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... |
OMIM:310440 |
Neutral Lipid Storage Disease With Myopathy |
|
Proximal muscle weakness, Gowers sign, Increased muscle lipid content, Cardiomyopathy, Myopathy, ... |
OMIM:610717 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Myopathy |
OMIM:613076 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Skeletal muscle atrophy, Abdominal wall muscle weakness, Scapular winging, Facial palsy, Beevor's... |
OMIM:158900 |
Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... |
OMIM:616852 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Cardiomyopathy, Dilated, 2B |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate... |
OMIM:614672 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Bulbar palsy, Limb joint contracture, Facial palsy, Proximal muscle weakness, Respiratory insuffi... |
OMIM:255310 |
Neuralgic Amyotrophy |
|
Scapular winging, Respiratory insufficiency, Paresthesia, Acrocyanosis, Muscle weakness |
ORPHA:2901 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Gowers sign, Progress... |
ORPHA:254361 |
Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Cardiomegaly, Increased variability in muscle fiber ... |
OMIM:618654 |
Nemaline Myopathy 10 |
|
Death in infancy, Bulbar palsy, Skeletal muscle atrophy, Facial palsy, Respiratory insufficiency ... |
OMIM:616165 |
Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Hand muscle atrophy, Intermittent episodes of respiratory insufficiency due to muscle weakness, O... |
OMIM:601462 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Waddling gait, Poor head control, Distal muscle weakness, Scapular winging, Facial palsy, Proxima... |
ORPHA:353327 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy |
OMIM:609283 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... |
OMIM:613496 |
Familial Isolated Dilated Cardiomyopathy |
|
Myopathy, Dilated cardiomyopathy |
ORPHA:154 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Hand muscle atrophy, Quadriceps muscle weakness, Impaired vibration sensation in the lower limbs,... |
ORPHA:435387 |
Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Dysesthesia, Unsteady gait, Gait ataxia, Impaired oropharyngeal swallow response, Distal lower li... |
ORPHA:98916 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Scapular winging, Ataxia, Facial palsy, Proximal muscle weakness, External ophthalmoplegia, Hand ... |
ORPHA:254886 |
Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Bulbar palsy, Facial palsy, Respiratory insufficiency due to muscle weakness, Gowers sign, Genera... |
OMIM:608930 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Waddling gait, Broad-based gait, Gowers sign, Cardiomyopathy, Myopathy, Calf muscle hypertrophy, ... |
ORPHA:119 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Myopathy, Decreased muscle mass |
OMIM:607091 |
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency |
|
Facial palsy, Gowers sign, Ophthalmoplegia, Generalized muscle weakness, Respiratory insufficienc... |
OMIM:616325 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... |
OMIM:613255 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Progressive external ophthalmoplegia, Scapular winging, Skeletal muscle atrophy, Proximal muscle ... |
OMIM:617069 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Skeletal muscle atrophy, Hand muscle weakness, Axial muscle weakness, Type ... |
ORPHA:98915 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... |
OMIM:115210 |
Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... |
OMIM:123320 |
Presynaptic Congenital Myasthenic Syndromes |
|
Limb-girdle muscle weakness, Gastroesophageal reflux, Muscle fiber atrophy, Frontalis muscle weak... |
ORPHA:98914 |
Mitochondrial Myopathy, Lethal, Infantile |
|
Myopathy |
OMIM:551000 |
Congenital Myasthenic Syndrome |
|
Limb-girdle muscle weakness, Gastroesophageal reflux, Muscle fiber atrophy, Frontalis muscle weak... |
ORPHA:590 |
Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... |
OMIM:160150 |
Ataxia, Deafness, And Cardiomyopathy |
|
Cardiomyopathy |
OMIM:208750 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Myopathy, Ventricular septal defect, Increased variability in muscle fiber diameter |
OMIM:616816 |
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Myopathy |
OMIM:230450 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Facial pals... |
OMIM:619424 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... |
ORPHA:70589 |
Central Core Disease |
|
Neonatal respiratory distress, Multiple joint contractures, Respiratory insufficiency due to musc... |
ORPHA:597 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Myopathy |
ORPHA:366 |
Distal Myopathy With Anterior Tibial Onset |
|
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h... |
ORPHA:178400 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Skeletal muscle atrophy, Feeding difficulties in infancy, Generalized muscl... |
ORPHA:238329 |
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 |
Peripartum Cardiomyopathy |
|
Orthopnea, Left atrial enlargement, Crackles, Abdominal pain, Myocarditis, Dyspnea, Dilated cardi... |
ORPHA:563 |
Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Jaundice, Skeletal muscle hypertrophy, Macroglossia, Myopathy, Gait disturbance, Constipation, Mu... |
ORPHA:2349 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Skeletal muscle atrophy, Elbow contracture, Facial palsy, Restrictive ventilatory defect, Shoulde... |
OMIM:606612 |
Spastic Ataxia 1, Autosomal Dominant |
|
Spastic ataxia, Gait disturbance, Leg muscle stiffness, Dysphagia |
OMIM:108600 |
Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f... |
OMIM:618823 |
Juvenile Primary Lateral Sclerosis |
|
Skeletal muscle atrophy, Gait imbalance, Dysphagia, Spastic gait, Muscle weakness |
ORPHA:247604 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Progressive external ophthalmoplegia, Skeletal muscle atrophy, Neck flexor weakness, Respiratory ... |
ORPHA:329336 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Flexion contracture, Myopathy, Neonatal death, Hypertrophic cardiomyopathy, Failure to thrive |
OMIM:618237 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Proximal muscle weakness in upper limbs, Fatigable weakness of distal limb muscles, Ankle weaknes... |
ORPHA:98912 |
Congenital Myopathy 3 With Rigid Spine |
|
Poor head control, Reduced vital capacity, Neck flexor weakness, Facial palsy, Centrally nucleate... |
OMIM:602771 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... |
OMIM:619371 |
Hepatorenocardiac Degenerative Fibrosis |
|
Portal hypertension, Hypersplenism, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, R... |
OMIM:619902 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi... |
OMIM:300717 |
Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Distal muscle weakness, Recurrent coughing spasms, Distal sensory impairment, Distal amyotrophy, ... |
OMIM:607736 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Progressive external ophthalmoplegia, Poor appetite, Respiratory insufficiency due to muscle weak... |
ORPHA:352447 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Waddling gait, Broad-based gait, Scapular winging, Neck flexor weakness, Calf muscle pseudohypert... |
ORPHA:353 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Pulmonic stenosis |
ORPHA:79159 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Waddling gait, Facial palsy, Gowers sign, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, I... |
OMIM:602541 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Skeletal muscle atrophy, Hand muscle atrophy, Death in childhood, Bulbar pa... |
OMIM:211530 |
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 |
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
|
Progressive external ophthalmoplegia, Ataxia, Limb-girdle muscle weakness, Dysphagia, Viral infec... |
ORPHA:329314 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Progressive external ophthalmoplegia, Skeletal muscle atrophy, Distal muscle weakness, Proximal m... |
OMIM:617070 |
Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... |
OMIM:615184 |
Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Short stature, Flexion contracture, Dilated cardiomyopathy, Ragged-red muscle fibers, Left ventri... |
OMIM:252011 |
Autosomal Recessive Spastic Paraplegia Type 54 |
|
Foot joint contracture, Tip-toe gait, Gait disturbance, Dysphagia, Spastic gait |
ORPHA:320380 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Aortic valve stenosis, Pulmonic stenosis, Po... |
OMIM:615382 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Neonatal death, Increased variability in muscle fiber diameter, Hypertrophic cardio... |
OMIM:614096 |
Myasthenic Syndrome, Congenital, 14 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged... |
OMIM:616228 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Reduced vital capacity, Distal muscle weakness, Scapular winging, Abnormality of the musculature ... |
ORPHA:329478 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Spastic Paraplegia 83, Autosomal Recessive |
|
Unsteady gait, Paresthesia, Dysphagia, Gait ataxia |
OMIM:619027 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Atrial Fibrillation, Familial, 10 |
|
Right ventricular dilatation, Left ventricular hypertrophy, Left atrial enlargement |
OMIM:614022 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia |
ORPHA:871 |
Proximal Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Flexion contrac... |
ORPHA:70 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Tachypnea, Cor pulmonale, Respiratory failure, Cough |
OMIM:263000 |
Danon Disease |
|
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
Progressive Familial Heart Block, Type Ia |
|
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... |
OMIM:113900 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Progressive external ophthalmoplegia, Broad-based gait, Skeletal muscle atrophy, Ataxia, Ophthalm... |
OMIM:616479 |
Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Ataxia, Ophthalmoplegia, Increased variability in mu... |
OMIM:619473 |
Myopathy, Distal, 3 |
|
Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contracture of the han... |
OMIM:610099 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc... |
OMIM:619477 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Reduced forced vital capacity, Aspiration, Foot dorsiflexor weakness, Ataxi... |
OMIM:164310 |
Congenital Myopathy 18 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e... |
OMIM:620246 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Bulbar palsy, Distal muscle weakness, Abnormal morphology of musculature of pharynx, Ankle weakne... |
ORPHA:600 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Familial Dyskinesia And Facial Myokymia |
|
Congestive heart failure, Dilated cardiomyopathy, Limb hypertonia, Facial myokymia |
ORPHA:324588 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Broad-based gait, Bronchiectasis, Right ventricular dilatation, Crohn's disease, Hypertrophic car... |
OMIM:619705 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Intestinal pseudo-obstruction, Impaired distal proprioception, Ragged-re... |
OMIM:607459 |
Bethlem Myopathy |
|
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Gowers sign... |
ORPHA:610 |
Congenital Myopathy 14 |
|
Death in infancy, Hip contracture, Apnea, Proximal muscle weakness, Respiratory insufficiency due... |
OMIM:618414 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur... |
OMIM:620068 |
Bardet-Biedl Syndrome 2 |
|
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve |
OMIM:615981 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Centrally nu... |
ORPHA:596 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Myopathy, Ataxia, Proximal muscle weakness |
OMIM:551500 |
Duane Anomaly-Myopathy-Scoliosis Syndrome |
|
Myopathy |
ORPHA:50817 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Diaphragmatic eventration, Sudden cardiac de... |
OMIM:610198 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Right ventricular dilatation, Dyspnea, Pulmonary arterial hypertension |
ORPHA:422 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers,... |
OMIM:613561 |
Dystonia With Cerebellar Atrophy |
|
Progressive cerebellar ataxia, Torticollis, Dysphagia |
OMIM:611694 |
Cardiomyopathy, Familial Hypertrophic, 28 |
|
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en... |
OMIM:619402 |
Coronary Arterial Fistula |
|
Orthopnea, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Abnormal heart morphology, Right ventr... |
ORPHA:2041 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Ankle flexion contracture, Respir... |
ORPHA:1143 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Death in adolescence, Stillbirth, Dysphagia, Neonatal death, Pulmonary arte... |
OMIM:619751 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Arr... |
OMIM:602390 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... |
OMIM:614302 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:619747 |
Oculopharyngodistal Myopathy 4 |
|
Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ... |
OMIM:619790 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Skeletal muscle atrophy, Distal muscle weakness, Diaphragmatic paralysis, P... |
OMIM:620011 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
OMIM:607487 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Somatic sensory dysfunction, Distal muscle weakness, Proximal muscle weakness, Inability to walk,... |
ORPHA:99939 |
D-2-Hydroxyglutaric Aciduria 2 |
|
Cardiomyopathy |
OMIM:613657 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Skeletal muscle atrophy, Progressive distal muscular atrophy, Facial palsy, Spinal muscular atrop... |
OMIM:159950 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Poor head control, Facial palsy, Ankle flexion contracture, Type 1 muscle fiber atrophy, Feeding ... |
OMIM:617519 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Biventricular hypertrophy, Myopathy, Hypertrophic cardiomyopathy, Apnea |
OMIM:618236 |
Cardiac Lipidosis, Familial |
|
Congestive heart failure, Cardiomyopathy |
OMIM:212080 |
Myasthenic Syndrome, Congenital, 3A, Slow-Channel |
|
Poor head control, Generalized muscle weakness, Respiratory insufficiency, Dysphagia, Loss of amb... |
OMIM:616321 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Respiratory insufficiency due to mu... |
OMIM:608931 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Proximal muscle weakness in upper limbs, Skeletal muscle atrophy, Proximal muscle weakness in low... |
OMIM:613954 |
Mitchell Syndrome |
|
Respiratory insufficiency due to muscle weakness, Limb muscle weakness, Difficulty walking, Dysph... |
OMIM:618960 |
Autosomal Recessive Spastic Paraplegia Type 21 |
|
Gait disturbance, Lower limb muscle weakness, Difficulty walking, Dysphagia |
ORPHA:101001 |
Dystonia 4, Torsion, Autosomal Dominant |
|
Torticollis, Dysphagia, Gait ataxia |
OMIM:128101 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Laryngotracheal Angioma |
|
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Feeding difficulties, S... |
ORPHA:137935 |
Fazio-Londe Disease |
|
Bulbar palsy, Diaphragmatic weakness, Facial diplegia, Progressive inspiratory stridor, Dysphagia |
OMIM:211500 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Distal muscle weakness, Interphal... |
ORPHA:1145 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Dilated cardiomyopathy, Flexion... |
ORPHA:272 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Flexion contracture, Bradycardia |
OMIM:618815 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Facial palsy, Proximal muscle weakness, External ophthalmoplegia, Feedin... |
OMIM:255320 |
Myopathy Due To Myoadenylate Deaminase Deficiency |
|
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy |
OMIM:615511 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Distal amyotrophy, Ataxia |
OMIM:619099 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Hypoventilation, Bulbar palsy, Skeletal muscle atrophy, Apnea, Facial palsy, Proximal muscle weak... |
OMIM:617143 |
Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Myositis, Scapular winging, Fatiguable weakness of proximal limb muscles... |
ORPHA:206569 |
Amish Nemaline Myopathy |
|
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Type 1 muscle fiber predomina... |
ORPHA:98902 |
Typical Nemaline Myopathy |
|
Waddling gait, Neck flexor weakness, Facial palsy, Fatigable weakness of distal limb muscles, Fat... |
ORPHA:171436 |
Immunodeficiency 9 |
|
Death in infancy, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Gow... |
OMIM:612782 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased variability in muscle fiber diameter, Failure to thrive in infancy, Increased intramyoc... |
OMIM:619065 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Somatic sensory dysfunction, Cardiomyopathy, Progressive gait ataxia, Progressive cerebellar atax... |
ORPHA:1177 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Myopathy, Ragged-red muscle fibers |
OMIM:618242 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased variability in muscle fiber diameter, Failure to thrive, Cardiomyopathy |
OMIM:613752 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Atrial fibrillation, Lef... |
OMIM:613876 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... |
OMIM:614676 |
Gaucher Disease Type 2 |
|
Respiratory distress, Cough, Ophthalmoplegia, Flexion contracture, Dysphagia, Abnormal pattern of... |
ORPHA:77260 |
Miyoshi Muscular Dystrophy 1 |
|
Distal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Deposits immunoreactive to bet... |
OMIM:254130 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i... |
OMIM:608751 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy, Feeding difficulties, Gastroesophageal reflux, Decreased ... |
OMIM:616974 |
Myopathy, Centronuclear, 5 |
|
Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Mitral regur... |
OMIM:615959 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Gait ataxia, S... |
OMIM:258450 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy, Elbow flexion ... |
OMIM:310300 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Chylopericardium, Gastroesophageal... |
ORPHA:2414 |
Brugada Syndrome 1 |
|
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... |
OMIM:601144 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Cardiomyopathy, Myopathy, Feeding difficulties |
ORPHA:26792 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Myopathy, Hypertrophic cardiomyopathy |
ORPHA:1369 |
Adducted Thumbs Syndrome |
|
Myopathy, Arthrogryposis multiplex congenita, Respiratory insufficiency, Dysphagia |
OMIM:201550 |
Spinocerebellar Ataxia 37 |
|
Unsteady gait, Ataxia, Dysphagia |
OMIM:615945 |
Leber Hereditary Optic Neuropathy |
|
Myopathy, Ataxia, Retinal telangiectasia |
ORPHA:104 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Loss of ability to walk in early childhood, Respiratory insufficiency due to muscle weakness, Ina... |
OMIM:609560 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Neonatal respiratory distress, Spinal muscular atrophy, Flexion contract... |
OMIM:616867 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia |
ORPHA:1479 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies |
|
Sudden cardiac death, Left ventricular outflow tract obstruction, Reduced left ventricular endsys... |
OMIM:620236 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Muscular Dystrophy, Barnes Type |
|
Myopathy, Muscular dystrophy |
OMIM:158800 |
Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Achilles tendon co... |
ORPHA:370980 |
Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Failure to thrive, Elbow contracture, Centrally nuclea... |
OMIM:620310 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Nasogastric tube feeding in infancy, Upper airway obstruction, Fee... |
ORPHA:141152 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617072 |
Brown-Vialetto-Van Laere Syndrome 2 |
|
Bulbar palsy, Ataxia, Facial palsy, Aggressive behavior, Respiratory insufficiency, Neck muscle w... |
OMIM:614707 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i... |
OMIM:613157 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Dyspnea, Respiratory insufficiency, Distal sensory impairment, Cardiomyopathy, Limb muscle weakne... |
OMIM:606842 |
Myopathy, Centronuclear, 2 |
|
Waddling gait, Scapular winging, Distal muscle weakness, Facial palsy, Proximal muscle weakness, ... |
OMIM:255200 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy |
OMIM:159050 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Congestive heart failure, Ragged-red muscle fibers, Dilated cardiomyopathy, Hypertension, Hypertr... |
ORPHA:1349 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Rhabdomyolysis, Dilated cardiomyopathy, Short stature, Ankle flexion contracture |
OMIM:618120 |
Tricuspid Atresia |
|
Cyanosis, Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great ar... |
ORPHA:1209 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia |
OMIM:300376 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly |
OMIM:600649 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficien... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficien... |
ORPHA:98853 |
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:619688 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Skeletal muscle atrophy, Poor head control, Myopathy, Bruising susceptibility, Muscle weakness |
ORPHA:300179 |
Paroxysmal Nonkinesigenic Dyskinesia 1 |
|
Paroxysmal choreoathetosis, Torticollis, Dysphagia |
OMIM:118800 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Hypoglycosylation of alpha-dystroglycan, Ataxia, Proximal muscle weakness, ... |
OMIM:620166 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Poor head control, Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Respi... |
ORPHA:486815 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Supraventri... |
ORPHA:98855 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Progressive distal muscle weakness, Proximal muscle weakness, Fatty replacement of skeletal muscl... |
ORPHA:397744 |
Spinocerebellar Ataxia 14 |
|
Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Attention deficit hyperactivity disorder, ... |
OMIM:605361 |
Spastic Paraplegia 85, Autosomal Recessive |
|
Impaired vibratory sensation, Torticollis, Impaired temperature sensation, Impaired proprioceptio... |
OMIM:619686 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Hypertension, ... |
OMIM:602088 |
Brugada Syndrome 2 |
|
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... |
OMIM:611777 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Broad-based gait, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetitive mannerisms... |
OMIM:617862 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elbow flexi... |
OMIM:618138 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Facial palsy, Ragged-red muscle fibers, Dilated cardiomyopathy, Proximal amyotrophy, Generalized ... |
OMIM:615084 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy |
ORPHA:2229 |
Dystonia 32 |
|
Torticollis, Dysphagia |
OMIM:619637 |
Myotonia Permanens |
|
Dyspnea, Ophthalmoplegia, Asthma, Generalized muscle hypertrophy, Ophthalmoparesis, Skeletal musc... |
ORPHA:99735 |
Idiopathic Achalasia |
|
Wheezing, Malnutrition, Dysphagia, Gastroesophageal reflux, Cough, Recurrent aspiration pneumonia |
ORPHA:930 |
Dk1-Cdg |
|
Short stature, Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Inter... |
ORPHA:91131 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... |
OMIM:115200 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Impaired vibration sensation in the lower limbs, Impaired proprioception, Limb at... |
ORPHA:251282 |
Glycogen Storage Disease Iii |
|
Ventricular hypertrophy, Cardiomyopathy, Distal amyotrophy, Myopathy, Muscle weakness |
OMIM:232400 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Proximal muscle weakness in upper limbs, Upper limb amyotrophy, Knee flexion contracture, Tip-toe... |
ORPHA:496689 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia |
OMIM:606703 |
Myoclonus, Intractable, Neonatal |
|
Apnea, Chorea, Feeding difficulties, Athetosis, Dysphagia, Impaired oral bolus formation, Increas... |
OMIM:617235 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Right ventricular dilatation |
OMIM:615616 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Respiratory insufficiency, Hypoplastic left heart, Dysphagia, Hypertro... |
OMIM:616276 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Multiple joint contractures, Facial palsy, Spinal muscular atrophy, Respiratory insufficiency due... |
OMIM:301830 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy, Hepatomegaly |
OMIM:609016 |
Atrial Septal Defect, Ostium Primum Type |
|
Cyanosis, Left atrial enlargement, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Ai... |
ORPHA:99106 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Ataxia, Proximal muscle weakness, Cardiomegaly, Diarrhea, Fatigable weak... |
ORPHA:42 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakness, Disinhibition, Dysphag... |
OMIM:612069 |
Asbestos Intoxication |
|
Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh... |
ORPHA:2302 |
Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Cardiomyopathy, Distal lower limb muscle weakness, Supraventricular arrhythmia, Leg muscle stiffness |
ORPHA:320360 |
Amyotrophic Lateral Sclerosis 8 |
|
Skeletal muscle atrophy, Distal muscle weakness, Proximal muscle weakness, Progressive muscle wea... |
OMIM:608627 |
Atrial Septal Defect, Sinus Venosus Type |
|
Dyspnea, Anomalous pulmonary venous return, Right ventricular dilatation, Exertional dyspnea, Pul... |
ORPHA:99105 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Impaired vibratory sensation, Ataxia, Unsteady gait, Dysmetria, Gait ataxia, Mitral valve prolaps... |
ORPHA:98 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Left ventricular noncompaction, Increased intramyocellular lipid droplets, Increased variability ... |
OMIM:617228 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Distal muscle weakness, Impaired distal proprioception, Unsteady gait, Impaired distal vibration ... |
OMIM:617633 |
Sandhoff Disease, Juvenile Form |
|
Skeletal muscle atrophy, Distal muscle weakness, Ataxia, Limb joint contracture, Proximal muscle ... |
ORPHA:309162 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Cardiomegaly, Proximal muscle weakness, Diarrhea, Cardiomyopathy, Myopathy,... |
OMIM:212140 |
Cardiomyopathy, Familial Hypertrophic, 7 |
|
Wolff-Parkinson-White syndrome, Ventricular hypertrophy, Atrial fibrillation, Hypertrophic cardio... |
OMIM:613690 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... |
OMIM:613874 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgitation, Left ventric... |
OMIM:619167 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Kn... |
ORPHA:75840 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Neuromuscular dysphagia, Falls, Axial muscle stiffness |
ORPHA:240085 |
Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles tendon contractur... |
OMIM:310200 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Centrally nucleated skeletal muscle fibers, Flexion contracture, Incre... |
OMIM:618484 |
Congenital Myopathy 16 |
|
Scapular winging, Distal muscle weakness, Proximal muscle weakness, Flexion contracture, Axial mu... |
OMIM:618524 |
Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Spinal muscular atrophy, Feeding difficulties in infancy, Respiratory insufficiency, Limb... |
OMIM:607596 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficien... |
ORPHA:98863 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode, Apnea, Feeding difficulties |
OMIM:610992 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Skeletal muscle atrophy, Gastrostomy tube feeding in infa... |
OMIM:620278 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Right ventricular dilatation |
OMIM:618920 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus... |
OMIM:620138 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy, Abnormal repetitive mannerisms, Feeding difficulties |
OMIM:616341 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Distal muscle weakness, Impaired pain sensation, Impaired temperature sensation, Centrally nuclea... |
OMIM:619574 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Myopathy |
OMIM:613345 |
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction |
|
Nasal regurgitation, Facial palsy, Dysphagia |
OMIM:617732 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase... |
OMIM:617066 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m... |
OMIM:609308 |
Atrial Standstill 1 |
|
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... |
OMIM:108770 |
Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Poor head control, Skeletal muscle atrophy, Ataxia, Proximal muscle... |
ORPHA:3208 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Myopathy, Hypertrophic cardiomyopathy, Failure to thrive |
OMIM:618234 |
Myasthenic Syndrome, Congenital, 24, Presynaptic |
|
Apnea, Ophthalmoplegia, Respiratory insufficiency, Feeding difficulties, Knee flexion contracture... |
OMIM:618198 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... |
ORPHA:85445 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Anorexia, Nonproductive cough, ... |
ORPHA:1302 |
Hyperkalemic Periodic Paralysis |
|
Death in infancy, Death in early adulthood, Skeletal muscle atrophy, Bowel incontinence, Feeding ... |
ORPHA:682 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Poor head control, Ataxia, Dilated cardiomyopathy, Tachyp... |
OMIM:614299 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... |
OMIM:614954 |
Isolated Glycerol Kinase Deficiency |
|
Myopathy |
ORPHA:408 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Death in infancy, Respiratory insufficiency due to muscle weakness, Inability to walk, Neonatal d... |
OMIM:617184 |
Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, A... |
ORPHA:99104 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy |
OMIM:192600 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Ophthalmoplegia, Ragged-red muscle fibers, Myopathy, Left ventricular hypertrophy, Episodic vomiting |
OMIM:540000 |
Laryngotracheoesophageal Cleft |
|
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Impaired oropharyngeal swallow ... |
ORPHA:2004 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Myopathy, Generalized limb muscle atrophy |
ORPHA:2598 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... |
OMIM:616470 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ... |
OMIM:613530 |
Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Dilated cardiomyopathy, Ventricular ... |
OMIM:607598 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Skeletal muscle at... |
ORPHA:1876 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Cardiomyopathy, Distal amyotrophy |
OMIM:610100 |
Cardiomyopathy, Dilated, 2E |
|
Ebstein anomaly of the tricuspid valve, Dilated cardiomyopathy, Reduced systolic function |
OMIM:619492 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Postnatal growth retardation, Congestive heart failure, Hypertrophic cardiomyopathy, Intrauterine... |
OMIM:615440 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Dysplastic tricuspid valve, Mitral valve prolapse, Right ventricular dilata... |
OMIM:612863 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind... |
OMIM:154275 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Distal amyotrophy, Distal muscle weakness, Dysphagia, Distal sensory impairment |
OMIM:607734 |
Malonyl-Coa Decarboxylase Deficiency |
|
Dilated cardiomyopathy, Short stature, Left ventricular noncompaction cardiomyopathy |
OMIM:248360 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Glycogen Storage Disease X |
|
Myopathy, Rhabdomyolysis |
OMIM:261670 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Waddling gait, Respiratory insufficiency due to muscle weakness, Inability to walk, Flexion contr... |
ORPHA:2590 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, True hermaphroditism, Nephroblastoma, Septate vagina, Gonadal tissue... |
OMIM:194080 |
Bronchogenic Cyst |
|
Abnormal pericardium morphology, Pneumonia, Abdominal pain, Abnormal stomach morphology, Dyspnea,... |
ORPHA:2357 |
Spinocerebellar Ataxia With Epilepsy |
|
Acute hepatic failure, Dysmetria, Ophthalmoparesis, Gait ataxia, Progressive cerebellar ataxia, D... |
ORPHA:254881 |
Spastic Paraplegia 7, Autosomal Recessive |
|
Waddling gait, Spastic ataxia, Impaired vibration sensation in the lower limbs, Dysmetria, Gait a... |
OMIM:607259 |
Myopathy, Myofibrillar, 8 |
|
Reduced vital capacity, Scapular winging, Proximal muscle weakness, Centrally nucleated skeletal ... |
OMIM:617258 |
Mitochondrial Myopathy, Infantile, Transient |
|
Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen... |
OMIM:500009 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Mast Syndrome |
|
Athetosis, Dysdiadochokinesis, Gait disturbance, Dysphagia, Lower limb muscle weakness |
OMIM:248900 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Progressive external ophthalmoplegia, Proximal muscle weakness, Progressive muscle weakness, Ragg... |
OMIM:609286 |
Amyotrophic Lateral Sclerosis 21 |
|
Bulbar palsy, Distal muscle weakness, Hand muscle weakness, Respiratory insufficiency due to musc... |
OMIM:606070 |
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2 |
|
External ophthalmoplegia, Inability to walk, Death in childhood, Dysphagia, Muscle weakness |
OMIM:617086 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Ataxia, Dysmetria, Choreoathetosis, Positive Romberg sign, Dysphagia, Loss of ambulation, Weaknes... |
OMIM:618088 |
Congenital Myopathy 19 |
|
Skeletal muscle atrophy, Facial hypotonia, Respiratory insufficiency due to muscle weakness, Resp... |
OMIM:618578 |
Congenital Myopathy 15 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Type 1 musc... |
OMIM:620161 |
Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia Syndrome |
|
Falls, Dysphagia |
ORPHA:240112 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis, Feeding difficulties in infancy, Stridor, Respiratory failure, Paroxysmal dyspnea, Left... |
ORPHA:444013 |
X-Linked Immunoneurologic Disorder |
|
Myopathy |
ORPHA:2571 |
Loeffler Endocarditis |
|
Aortic regurgitation, Abnormal morphology of the chordae tendinae of the mitral valve, Pericardit... |
ORPHA:75566 |
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome |
|
Ataxia, Muscle weakness, Dysphagia |
ORPHA:1171 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Ophthalmoplegia, Myopathy, Gait disturbance, Increased variability in muscle fiber diameter |
OMIM:125250 |
Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... |
ORPHA:99103 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Short stature, Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Delaye... |
ORPHA:280679 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Achilles tendon contracture, Dilated cardiomyopathy, Abnormal left ventricular function, Macroglo... |
OMIM:607155 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Dyspnea, Diaphragmatic weakness, EMG: myopathic abnormalities, Respiratory failure, Nocturnal hyp... |
OMIM:620326 |
Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Cyanosis, Apnea, Dextrocardia, Abnormal hemidiaphragm morphology, ... |
ORPHA:2257 |
Lipodystrophy, Familial Partial, Type 6 |
|
Skeletal muscle atrophy, Myopathy, Abdominal obesity, Muscular dystrophy, Lower limb muscle weakness |
OMIM:615980 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
High Altitude Pulmonary Edema |
|
Nausea and vomiting, Orthopnea, Cyanosis, Crackles, Anorexia, Dyspnea, Tachypnea, Hypoxemia, Cough |
ORPHA:330012 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Type 1 muscle fiber predo... |
OMIM:608340 |
Glutamate-Cysteine Ligase Deficiency |
|
Myopathy, Jaundice, Ataxia |
ORPHA:33574 |
Sengers Syndrome |
|
Generalized muscle weakness, Respiratory insufficiency, Myopathy, Pulmonary arterial hypertension... |
OMIM:212350 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Cyanosis, Ataxia, Chorea, Choreoathetosis |
ORPHA:71277 |
Bundle Branch Block, Familial Isolated Complete Right |
|
Right bundle branch block |
OMIM:113950 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... |
ORPHA:98905 |
Polymyositis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... |
ORPHA:732 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind... |
OMIM:154276 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Abdominal wall muscle weakness, Decreased muscle mass, Neck flexor weakn... |
ORPHA:263297 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Flexion contracture, Feeding difficulties, Left ventricular hypertrophy, Mu... |
OMIM:616733 |
Spastic Paraplegia Type 7 |
|
Somatic sensory dysfunction, Ragged-red muscle fibers, Impaired vibration sensation in the lower ... |
ORPHA:99013 |
Spastic Paraplegia 8, Autosomal Dominant |
|
Lower limb muscle weakness, Impaired vibration sensation in the lower limbs, Spastic gait, Dysphagia |
OMIM:603563 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... |
OMIM:613243 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... |
OMIM:616812 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Neck flexor weakness, Cardiomegaly, In... |
ORPHA:268 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Nausea and vomiting, Skeletal muscle atrophy, Dyspnea, Achilles tendon contracture, Ragged-red mu... |
OMIM:615418 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Progressive proximal mu... |
ORPHA:368 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Skeletal muscle atrophy, Dilated cardiomyopathy, Esophageal varix, Flexion ... |
ORPHA:367 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Skeletal muscle atrophy, Bulbar palsy, Disinhibition, Dysphagia, Muscle weakness |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Skeletal muscle atrophy, Bulbar palsy, Disinhibition, Dysphagia, Muscle weakness |
OMIM:616437 |
Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Foot dorsiflexor weakness, Multiple joint contractures, Facial palsy, Bo... |
OMIM:617114 |
Glycogen Storage Disease Ixd |
|
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn... |
OMIM:300559 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... |
OMIM:612124 |
Riboflavin Transporter Deficiency |
|
Skeletal muscle atrophy, Bulbar palsy, Ataxia, Facial palsy, Aggressive behavior, Respiratory ins... |
ORPHA:97229 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... |
OMIM:617047 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Ataxia, Inability to walk, Chorea, Abnormal heart morphology, Respiratory failure, Gastroesophage... |
ORPHA:70472 |
Chiari Malformation Type Ii |
|
Cyanosis, Ataxia, Feeding difficulties, Dysphagia, Limb muscle weakness, Inspiratory stridor |
OMIM:207950 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Progressive external ophthalmoplegia, Ataxia, Respiratory insufficiency, Left ventricular noncomp... |
OMIM:615917 |
Amyotrophic Lateral Sclerosis 20 |
|
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles |
OMIM:615426 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Muscular dystrophy, Cardiomyopathy |
OMIM:309930 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Distal lower limb amyotrophy, Distal muscle weakness, Hand muscle weakness, Achilles tendon contr... |
OMIM:302800 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
Progressive external ophthalmoplegia, Ataxia, Gait ataxia, Myopathy, Dysphagia |
OMIM:613077 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Dilated cardiomyopathy, Reduced systolic function |
OMIM:618805 |
Meckel Syndrome, Type 8 |
|
Ambiguous genitalia, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Tachypnea, Cardiorespiratory a... |
OMIM:620203 |
Autosomal Spastic Paraplegia Type 18 |
|
Hip contracture, Distal muscle weakness, Ankle flexion contracture, Inability to walk, Neck joint... |
ORPHA:209951 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Hjv Or Hamp-Related Hemochromatosis |
|
Dilated cardiomyopathy |
ORPHA:79230 |
Feingold Syndrome 2 |
|
Postnatal growth retardation, Ventricular septal defect, Short stature |
OMIM:614326 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Cardiomyopathy |
OMIM:619647 |
Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
Arthrogryposis Multiplex Congenita 6 |
|
Neonatal death, Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis m... |
OMIM:619334 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Reduced vital capacity, Flexion contracture, Respiratory insufficiency, Axial muscle weakness, Ar... |
ORPHA:178148 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Cardiomyopathy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Muscular dy... |
OMIM:615352 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Pneumonia |
OMIM:254120 |
Marinesco-Sjogren Syndrome |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myopath... |
OMIM:248800 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Ankle flexion contracture, Respiratory insufficiency due to muscle weakness, Reduced forced vital... |
OMIM:619461 |
Congenital Myopathy 24 |
|
Scapular winging, Facial palsy, First degree atrioventricular block, Cardiomyopathy, Type 1 muscl... |
OMIM:617336 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S... |
ORPHA:57 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Telangiectasia of the skin, Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Finger ... |
OMIM:212112 |
Striatonigral Degeneration, Childhood-Onset |
|
Steppage gait, Loss of ambulation, Unsteady gait, Dysphagia |
OMIM:617054 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Amyotrophic Lateral Sclerosis 18 |
|
Skeletal muscle atrophy, Muscle weakness, Dysphagia |
OMIM:614808 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Hepatomegaly, Eosinophilia,... |
ORPHA:98849 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney, Elevated circulating growth hormone concentration, ... |
ORPHA:90301 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
Developmental And Epileptic Encephalopathy 62 |
|
Inability to walk, Dysphagia, Gastrostomy tube feeding in infancy |
OMIM:617938 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Cyanosis, Cardiomegaly, Pericardial effusion,... |
ORPHA:555874 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... |
ORPHA:85451 |
Barth Syndrome |
|
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... |
OMIM:302060 |
Arthrogryposis, Distal, Type 7 |
|
Arthrogryposis multiplex congenita, Feeding difficulties, Distal arthrogryposis, Dysphagia |
OMIM:158300 |
Mcleod Syndrome |
|
Chorea, Dilated cardiomyopathy, Rhabdomyolysis, Cardiomyopathy, Myopathy, Compulsive behaviors, M... |
OMIM:300842 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Short stature, Dilated cardiomyopathy, Renovascular ... |
ORPHA:401923 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc... |
OMIM:226670 |
Myopathy With Lactic Acidosis, Hereditary |
|
Skeletal muscle atrophy, Distal muscle weakness, Dyspnea, Rhabdomyolysis, Ophthalmoparesis, Myopa... |
OMIM:255125 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Progressive external ophthalmoplegia, Ataxia, Limb-girdle muscle weakness, Cardiomyopathy, Myopathy |
ORPHA:1215 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy, Myofiber disarray, Feeding difficulties, Myopathy, Increa... |
OMIM:604377 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Ataxia, Ophthalmoplegia, Athetosis, Distal amyotrophy, Vomiting, Dysphagia, Loss of ambulation, M... |
OMIM:271245 |
Dihydropteridine Reductase Deficiency |
|
Dysphagia |
ORPHA:226 |
Hsd10 Disease, Infantile Type |
|
Restlessness, Poor head control, Cyanosis, Cardiomegaly, Gastrointestinal dysmotility, Choreoathe... |
ORPHA:391428 |
Spastic Ataxia 5, Autosomal Recessive |
|
Spastic ataxia, Ataxia, Dysmetria, Dysdiadochokinesis, Distal amyotrophy, Increased intramyocellu... |
OMIM:614487 |
Pontocerebellar Hypoplasia, Type 4 |
|
Death in infancy, Feeding difficulties, Respiratory failure, Congenital contracture, Dysphagia |
OMIM:225753 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Slender build, Flexion contracture, Muscle... |
OMIM:254090 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Facial palsy, Achilles tendon contracture, Elbow flexion contracture, Skeletal muscle hypertrophy... |
OMIM:608840 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Broad-based gait, Neonatal respiratory distress, Ventricular septal defect,... |
OMIM:610978 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis, Apnea, Meconium ileus, Fatigable weakness of skeletal muscles, Ophthalmoplegia, Respira... |
OMIM:617239 |
Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Left ventricular ... |
OMIM:619040 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5 |
|
Progressive external ophthalmoplegia, Broad-based gait, Ataxia, Neck flexor weakness, Proximal mu... |
OMIM:618098 |
Christianson Syndrome |
|
Death in early adulthood, Decreased muscle mass, Feeding difficulties in infancy, Ophthalmoplegia... |
ORPHA:85278 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... |
OMIM:620300 |
Congenital Tracheomalacia |
|
Apnea, Cardiomegaly, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Atrial septal defect,... |
ORPHA:95430 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A |
|
Ataxia, Dysphagia |
OMIM:613925 |
Spinocerebellar Ataxia 1 |
|
Impaired vibratory sensation, Skeletal muscle atrophy, Bulbar palsy, Distal muscle weakness, Impa... |
OMIM:164400 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Skeletal muscle atrophy, Ataxia, Thenar muscle atrophy, Impaired distal vibration sensation, Impa... |
OMIM:604360 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Growth delay, Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
OMIM:231530 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Intestinal malrotation, Congenital diaphragmatic hernia, Aplasia/Hypoplasia... |
ORPHA:2140 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Inability to walk, Joint contracture |
OMIM:617977 |
Glycogen Storage Disease Xv |
|
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... |
OMIM:613507 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Miscarriage, Centrally nucleated skeletal muscle fibers,... |
ORPHA:169189 |
Scleromyxedema |
|
Abnormality of the gastrointestinal tract, Distal muscle weakness, Aged leonine appearance, Proxi... |
ORPHA:167635 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Cyanosis, Ventricular septal defect, Abnormal pulmonary ... |
ORPHA:860 |
Amyotrophic Lateral Sclerosis 1 |
|
Skeletal muscle atrophy, Pseudobulbar paralysis, Muscle weakness, Dysphagia |
OMIM:105400 |
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Ataxia, Unsteady gait, Limb ataxia, Dysphagia, Gait disturbance, Truncal ataxia |
ORPHA:284271 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Loss of ambulation, Respiratory failure, Muscle weakness, Dysphagia |
OMIM:613435 |
Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Congestive heart failure, Inability to walk, Enlarged ki... |
OMIM:617303 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Nemaline bodies, Flexion contracture, Myopathy, Cardiomyopathy |
OMIM:616549 |
Congenital Fiber-Type Disproportion Myopathy |
|
Poor appetite, Progressive muscle weakness, Nasogastric tube feeding in infancy, Flexion contract... |
ORPHA:2020 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... |
ORPHA:91359 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Chronic kidney disease... |
ORPHA:730 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Cardiomegaly, Feeding difficulties in infancy, Gowers sign, Flexion contrac... |
ORPHA:365 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Intrauterine growth... |
OMIM:620135 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Diarrhea, Chronic pulmonary obstru... |
ORPHA:411703 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Short stature, Cerebral hemorrhage, Postnatal growth retardation, Dilated cardiomyopathy, Abnorma... |
OMIM:300845 |
Hypophosphatasia, Childhood |
|
Myopathy |
OMIM:241510 |
King-Denborough Syndrome |
|
Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predom... |
OMIM:619542 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Skeletal muscle atrophy, Respiratory insufficiency due to... |
OMIM:615512 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Episodic flaccid weakness, Myopathy, Muscle weakness |
OMIM:170400 |
Criss-Cross Heart |
|
Cyanosis, Ventricular septal defect, Tricuspid stenosis, Respiratory insufficiency, Feeding diffi... |
ORPHA:1461 |
Pleural Mesothelioma |
|
Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Dysphagia, Cough, Pleural ... |
ORPHA:50251 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Splenomegaly, Flexion contracture, Cardiomyopathy, Intrauterine growth retardation,... |
OMIM:608540 |
Fixed Subaortic Stenosis |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Bicuspid aortic valve, Ven... |
ORPHA:3092 |
Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Hepatomegaly, Heart block, Splenomegaly, Dilated cardiomyopathy, Atriovent... |
ORPHA:398124 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Severe short stature, Abnormal heart valve morphology, Congestive heart failure, Sp... |
OMIM:230500 |
Lethal Congenital Contracture Syndrome 7 |
|
Skeletal muscle atrophy, Oral-pharyngeal dysphagia, Knee flexion contracture, Facial diplegia, Di... |
OMIM:616286 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Distal muscle weakness, Ataxia, Dysmetria, Abnormal mitochondria in muscle tissue, Dysdiadochokin... |
ORPHA:313772 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Short stature, Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopa... |
OMIM:208000 |
Proximal Myopathy With Extrapyramidal Signs |
|
Increased variability in muscle fiber diameter, Central core regions in muscle fibers, Cardiomyop... |
ORPHA:401768 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Spastic ataxia, Torticollis, Aggressive behavior, Gait ataxia, Lower limb hypertonia, Gait distur... |
OMIM:618369 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Unsteady gait, Ataxia, Dysphagia |
OMIM:302500 |
Spinocerebellar Ataxia Type 1 |
|
Skeletal muscle atrophy, Chorea, Impaired proprioception, Dysmetria, Ophthalmoparesis, Abnormalit... |
ORPHA:98755 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Skeletal muscle atrophy, Respiratory insufficiency, Dysphagia |
OMIM:617892 |
Dystonia 12 |
|
Hypomimic face, Torticollis, Unsteady gait, Dysphagia |
OMIM:128235 |
Isolated Atp Synthase Deficiency |
|
Hepatomegaly, Short stature, Dilated cardiomyopathy, Arrhythmia, Hypertrophic cardiomyopathy |
ORPHA:254913 |
Phosphoglycerate Kinase 1 Deficiency |
|
Myopathy, Rhabdomyolysis, Ataxia, Muscle weakness |
OMIM:300653 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Elevated left ventricular end... |
OMIM:620152 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... |
ORPHA:536516 |
Immunodeficiency 60 And Autoimmunity |
|
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count |
OMIM:618394 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Neonatal respiratory distress, Spinal muscular atrophy, Secundum atrial septal defect, Flexion co... |
OMIM:616866 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... |
OMIM:115197 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Proteinuria, Cardiac ... |
ORPHA:439232 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Ataxia, External ophthalmoplegia, Bruxism, Dysphagia, Feeding difficulties, Choreoathetosis, Deat... |
OMIM:619422 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Feeding difficulties, Cardiomyopathy, Respiratory failure, Stillbirth, Myopathy... |
OMIM:614922 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Abnormality of the gastrointestinal tract, Decreased muscle mass, Distal muscle weakness, Small i... |
ORPHA:298 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Tracheoesophageal fistula, Dysphagia, St... |
ORPHA:142 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Centrally nucleated skeletal muscle fibers, Feeding diffi... |
OMIM:300219 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... |
OMIM:613873 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:226735 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Facial hypotonia, Cardi... |
ORPHA:308552 |
Acetazolamide-Responsive Myotonia |
|
Ophthalmoplegia, Ophthalmoparesis, Skeletal muscle hypertrophy, Gait disturbance, Dysphagia |
ORPHA:99736 |
Severe Canavan Disease |
|
Poor head control, Oral-pharyngeal dysphagia, Gastrostomy tube feeding in infancy, Inability to w... |
ORPHA:314911 |
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy |
|
Chorea, Gait disturbance, Dysphagia |
OMIM:607674 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Central apnea, Skeletal muscle atrophy, Ataxia, Aggressive behavior, Gait apraxia, Limb ataxia, D... |
OMIM:615157 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor, Abnormal cardiac septum morphology |
ORPHA:2374 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Skeletal muscle atrophy, Achalasia, Acrocyanosis |
ORPHA:2400 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Tachycardia, Short stature, Ventricular septal defect, Sudden cardiac death, Cardio... |
OMIM:614921 |
Cap Myopathy |
|
Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Mitral valve prolapse, Gen... |
ORPHA:171881 |
Dystonia 16 |
|
Torticollis, Unsteady gait, Dysphagia |
ORPHA:210571 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Torticollis, Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Dysphagia, Hypomimic face |
OMIM:619862 |
Multifocal Atrial Tachycardia |
|
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... |
ORPHA:3282 |
Combined Oxidative Phosphorylation Deficiency 7 |
|
Skeletal muscle atrophy, Ataxia, External ophthalmoplegia, Ophthalmoplegia, Distal sensory impair... |
OMIM:613559 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Broad-based gait, Ataxia, Apnea, Central hypoventilation, External ophthalmoplegia, Dysmetria, Fe... |
OMIM:618233 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Reduced vital capacity, Pulmonary embolism, Increased pulmonary vascular resistance, Right ventri... |
ORPHA:70591 |
Mitochondrial Trifunctional Protein Deficiency |
|
Progressive distal muscle weakness, Feeding difficulties in infancy, Generalized muscle weakness,... |
ORPHA:746 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse |
OMIM:145350 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Conjunctival telangiectasia, Ataxia, Progeroid facial appearance, Congenital diaphragmatic hernia... |
OMIM:615919 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype... |
ORPHA:1345 |
Acquired Partial Lipodystrophy |
|
Myopathy |
ORPHA:79087 |
Familial Infantile Bilateral Striatal Necrosis |
|
Ataxia, Gait ataxia, Choreoathetosis, Upper limb muscle weakness, Gait disturbance, Gastroesophag... |
ORPHA:225154 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory... |
OMIM:265120 |
Spinocerebellar Ataxia Type 11 |
|
Progressive cerebellar ataxia, Gait imbalance, Difficulty walking, Dysphagia |
ORPHA:98767 |
Laryngeal Abductor Paralysis |
|
Stridor, Cyanosis, Dysphagia |
OMIM:150260 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Waddling gait, Myopathy, Muscle weakness |
ORPHA:166002 |
Pontocerebellar Hypoplasia, Type 11 |
|
Skeletal muscle atrophy, Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Self-injurious... |
OMIM:617695 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Dilated cardiomyopathy, Ventricular tachycardia, Syncope |
OMIM:615821 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hyperactivity, Ataxia, Gait ataxia, Myopathy, Respiratory fa... |
ORPHA:363400 |
Primary Lateral Sclerosis, Adult, 1 |
|
Spastic gait, Dysphagia |
OMIM:611637 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Increased variability in muscle fiber diameter |
OMIM:617915 |
Combined Oxidative Phosphorylation Deficiency 50 |
|
Poor head control, Dysphagia |
OMIM:619025 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif... |
OMIM:610921 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Distal muscle weakness, Ataxia, Neck flexor weakness, Proximal muscle we... |
ORPHA:300605 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Splenomegaly, Monocyto... |
OMIM:614470 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el... |
OMIM:261740 |
Postpoliomyelitis Syndrome |
|
Hypoventilation, Skeletal muscle atrophy, Respiratory insufficiency, Dysphagia, Muscle weakness |
ORPHA:2942 |
Spastic Paralysis, Infantile-Onset Ascending |
|
Achilles tendon contracture, Muscle weakness, Dysphagia |
OMIM:607225 |
Behr Syndrome |
|
Ataxia, Achilles tendon contracture, Unsteady gait, Dysmetria, Dysphagia, Adductor longus contrac... |
OMIM:210000 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Impulsivity, Impaired pain sensation, Aggressive behavior, Inability to walk, Chor... |
ORPHA:500180 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Quadriceps muscle weakness, Ragged-red muscle fibers, Gait ataxia, Gastroesophageal reflux, Ataxi... |
ORPHA:254892 |
Neurofibromatosis-Noonan Syndrome |
|
Hypertrophic cardiomyopathy, Abdominal wall muscle weakness, Pulmonic stenosis, Dysphagia |
ORPHA:638 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Exercise-induced rhabdomyolysis, Ventricular se... |
ORPHA:26793 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly |
ORPHA:85447 |
Autosomal Dominant Striatal Neurodegeneration |
|
Dysdiadochokinesis, Gait disturbance, Dysphagia |
ORPHA:228169 |
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia |
|
Impaired vibratory sensation, Dysphagia, Sensory ataxia, Gait ataxia |
OMIM:620221 |
Primary Lateral Sclerosis, Juvenile |
|
Pseudobulbar paralysis, Spasticity of facial muscles, Dysphagia, Loss of ambulation, Spastic gait |
OMIM:606353 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Ataxia, External ophthalmoplegia, Flexion contracture, Feeding difficulties, Cardiomyopathy, Myop... |
OMIM:201470 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Complete Atrioventricular Septal Defect |
|
Cyanosis, Intercostal retractions, Crackles, Cardiomegaly, Complete atrioventricular canal defect... |
ORPHA:1329 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Ventricular hypertrophy, Rhabdomyolysis, Episodic abdominal pain, Cardiomyopathy, Myopathy, Hepat... |
ORPHA:228305 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Calf muscle hypertrophy, Bulbar palsy, Limb muscle weakness, Dysphagia |
OMIM:313200 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Total ophthalmoplegia, Progressive external ophthalmoplegia, Skeletal muscle atrophy, Neck flexor... |
OMIM:157640 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Generalized muscle weakness, Dilated cardiomyopathy, Rhabdomyolysis, Respiratory insufficiency, F... |
OMIM:609015 |
Alg9-Cdg |
|
Villous atrophy, Torticollis, Ventricular septal defect, Hypoplasia of the musculature, Pericardi... |
ORPHA:79328 |
Cardiomyopathy, Familial Hypertrophic, 2 |
|
Atrial fibrillation, Angina pectoris, Right bundle branch block, Reduced left ventricular ejectio... |
OMIM:115195 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, External ophthalmoplegia, Diarrhea, Gait ataxia, Feeding difficulties, Vomi... |
OMIM:612075 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Ataxia, Apnea, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting, G... |
OMIM:619580 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Nausea and vomiting, Anorexia, Abdominal pain, Feeding difficulties, Choreo... |
ORPHA:79312 |
Carey-Fineman-Ziter Syndrome 1 |
|
Skeletal muscle atrophy, Distal muscle weakness, Facial palsy, Hypoplasia of the musculature, Pro... |
OMIM:254940 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Poor head control, Scapular winging, Proximal muscle weakness, Inability... |
ORPHA:26791 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, EM... |
ORPHA:99901 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Short stature, Congestive heart failure, Dilated cardiomyopathy, Heart murm... |
ORPHA:2326 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Ataxia, Respiratory insufficiency due to muscle weakness, Ophthalmoparesis,... |
OMIM:220110 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Skeletal muscle atrophy, Scapular winging, Ataxia, Ophthalmoplegia, Feeding difficulties, Myopath... |
ORPHA:98673 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Distal muscle weakness, Proximal muscle weakness, Fatty replacement of skeletal mu... |
ORPHA:52430 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Asplenia, Aortic valve stenosis, Pulmonic stenosis, Hypertrophic cardiomyopathy, Cy... |
OMIM:615415 |
Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:616730 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Right bundle branch block |
OMIM:613158 |
Familial Isolated Restrictive Cardiomyopathy |
|
Hepatomegaly, Tricuspid regurgitation, Atrial fibrillation, Left atrial enlargement, Supraventric... |
ORPHA:75249 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
OMIM:611126 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Abdominal pain, Nonproductive cou... |
ORPHA:454836 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Sudden episodic apnea, Rhabdomyolysis, Respiratory insufficiency, Cardiomyopathy, Hepat... |
ORPHA:159 |
Striatonigral Degeneration, Infantile |
|
Choreoathetosis, Dysphagia |
OMIM:271930 |
Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Dysesthesia, Abnormal tendon morpholo... |
ORPHA:85446 |
Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Flexion contracture, Axial muscle weaknes... |
ORPHA:171430 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Abdominal pain, Left ventricular hypertrophy, Volvulus, Bruising susceptibility, Subcut... |
ORPHA:335 |
Carcinoid Syndrome |
|
Nausea and vomiting, Asthma, Lack of bowel sounds, Episodic abdominal pain, Protracted diarrhea, ... |
ORPHA:100093 |
Rapid-Onset Dystonia-Parkinsonism |
|
Hypomimic face, Torticollis, Dysphagia, Gait ataxia |
ORPHA:71517 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... |
OMIM:617222 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
Dilated Cardiomyopathy With Ataxia |
|
Prolonged QT interval, Diaphragmatic eventration, Muscular ventricular septal defect, Dilated car... |
ORPHA:66634 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Bulbar palsy, Distal muscle weakness, Proximal muscle weakness, Progressive cerebellar ataxia, Di... |
ORPHA:275872 |
Isolated Right Ventricular Hypoplasia |
|
Cyanosis, Cardiomegaly, Dyspnea, Muscular ventricular septal defect, Hypoxemia, Atrial septal def... |
ORPHA:439 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Poor appetite, Abnormal large intestine morphol... |
ORPHA:2198 |
Madras Motor Neuron Disease |
|
Bulbar palsy, Distal muscle weakness, Facial palsy, Distal amyotrophy, Dysphagia |
ORPHA:137867 |
Spinocerebellar Ataxia 7 |
|
Chorea, Dysmetria, Progressive cerebellar ataxia, Supranuclear ophthalmoplegia, Dysphagia |
OMIM:164500 |
Malaria |
|
Respiratory distress, Gait imbalance, Nausea and vomiting |
ORPHA:673 |
Galloway-Mowat Syndrome 7 |
|
Ventricular septal defect, Dilated cardiomyopathy, Short stature |
OMIM:618348 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Hypoplastic l... |
OMIM:615524 |
Acute Interstitial Pneumonia |
|
Cyanosis, Crackles, Pericardial effusion, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis... |
ORPHA:79126 |
Congenital Heart Block |
|
Cyanosis, Crackles, Pericardial effusion, Feeding difficulties in infancy, Endocardial fibroelast... |
ORPHA:60041 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Nausea and vomiting, Intestinal obstruction, Sinusitis, Cutis marmorata, Abnormal pericardium mor... |
ORPHA:183 |
Choreoacanthocytosis |
|
Skeletal muscle atrophy, Self-mutilation of tongue and lips due to involuntary movements, Aggress... |
OMIM:200150 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Facial palsy, Flexion contracture, Abnormal left ventricular function, Cardiomyopathy, Macrogloss... |
OMIM:613155 |
Friedreich Ataxia |
|
Hand muscle atrophy, Inability to walk, Chorea, Impaired proprioception, Dysmetria, Gait ataxia, ... |
ORPHA:95 |
Poliomyelitis |
|
Respiratory failure requiring assisted ventilation, Bulbar palsy, Skeletal muscle atrophy, Anorex... |
ORPHA:2912 |
Andersen-Tawil Syndrome |
|
Prolonged QT interval, Short stature, Bidirectional ventricular ectopy, Polymorphic ventricular t... |
ORPHA:37553 |
Leber Optic Atrophy And Dystonia |
|
Athetosis, Skeletal muscle atrophy, Dysphagia |
OMIM:500001 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Feeding difficulties, Cong... |
OMIM:615042 |
Spinocerebellar Ataxia 36 |
|
Skeletal muscle atrophy, Ataxia, Limb ataxia, Gait ataxia, Dysphagia, Truncal ataxia, Muscle weak... |
OMIM:614153 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Ureteral duplication, Hepatomegaly, Renal insufficiency, Long-chain dicarboxylic... |
OMIM:608836 |
Neutral Lipid Storage Myopathy |
|
Progressive distal muscle weakness, Hand muscle weakness, Fatty replacement of skeletal muscle, G... |
ORPHA:98908 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Skeletal muscle atrophy, Bulbar palsy, Ataxia, Oral-pharyngeal dysphagia, Inability to walk, Opht... |
ORPHA:254930 |
Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Respiratory insufficiency, Choreoathetosis, Distal amyotrophy, Dysphagia, Limb hypertonia |
OMIM:618247 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... |
OMIM:619343 |
Limited Cutaneous Systemic Sclerosis |
|
Nausea and vomiting, Telangiectasia of the skin, Foot joint contracture, Gastroesophageal reflux,... |
ORPHA:220402 |
Mitochondrial Phosphate Carrier Deficiency |
|
Hypertrophic cardiomyopathy, Cyanosis, Respiratory insufficiency |
OMIM:610773 |
Spinocerebellar Ataxia 19 |
|
Truncal ataxia, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Dysphagia |
OMIM:607346 |
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency |
|
Facial palsy, Respiratory insufficiency, Feeding difficulties, Dysphagia, Weakness of facial musc... |
OMIM:616323 |
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome |
|
Skeletal muscle atrophy, Aggressive behavior, Feeding difficulties, Myopathy, Gait disturbance |
ORPHA:85329 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Proteinuria, Splenomegaly, Nephrolithiasis, Hypertension, Foca... |
OMIM:232220 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Renal insufficiency, Pancreatic fibrosis, Portal hypertension, Asplenia, Splenomega... |
OMIM:208540 |
Myotonic Dystrophy 1 |
|
Respiratory distress, Feeding difficulties in infancy, Facial diplegia, Dysphagia, Obsessive-comp... |
OMIM:160900 |
Paramyotonia Congenita Of Von Eulenburg |
|
Facial muscle hypertrophy, Cold paresis, Feeding difficulties, Dysphagia, EMG: myopathic abnormal... |
ORPHA:684 |
Autosomal Recessive Spastic Paraplegia Type 5A |
|
Impaired vibratory sensation, Lower limb amyotrophy, Limb ataxia, Dysphagia, Upper limb muscle we... |
ORPHA:100986 |
Pontocerebellar Hypoplasia Type 2 |
|
Apnea, Oral-pharyngeal dysphagia, Feeding difficulties, Choreoathetosis, Viral infection-induced ... |
ORPHA:2524 |
Choanal Atresia |
|
Respiratory distress, Cyanosis, Upper airway obstruction, Feeding difficulties, Choking episodes,... |
ORPHA:137914 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Cardiomyopathy, Pulmonary arterial hypertension, Intrauterine growth retardation |
OMIM:619003 |
Adrenomyodystrophy |
|
Myopathy, Failure to thrive |
ORPHA:977 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Impulsivity, Chorea, Gait disturbance, Compulsive behaviors, Dysphagia, Violent behavior |
ORPHA:216873 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormal heart valve morphology, Short stature, Splenomegaly, Cardiomyopathy |
ORPHA:93476 |
Snakebite Envenomation |
|
Epistaxis, Angioedema, Erythema, Neuromuscular dysphagia, Diarrhea, Rhabdomyolysis, Respiratory f... |
ORPHA:449285 |
Recessive Mitochondrial Ataxia Syndrome |
|
Impaired vibratory sensation, Ataxia, Ophthalmoplegia, Dysmetria, Gait disturbance, Positive Romb... |
ORPHA:94125 |
Hereditary Methemoglobinemia |
|
Athetosis, Cyanosis, Exertional dyspnea |
ORPHA:621 |
Pyruvate Dehydrogenase Phosphatase Deficiency |
|
Feeding difficulties, Dysphagia, Gait ataxia |
OMIM:608782 |
Myotonia Congenita, Autosomal Recessive |
|
Skeletal muscle hypertrophy, Muscle hypertrophy of the lower extremities, Muscle weakness, Dysphagia |
OMIM:255700 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Flexion contracture, Dysmetria, Chronic constipation, Distal amyotrophy, Difficulty walking, Dysp... |
OMIM:275900 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:306950 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Intestinal pseudo-obstruction, Intestinal perforation, Gastrointestinal dysmotility, Hyperactive ... |
OMIM:603041 |
Pontocerebellar Hypoplasia, Type 1D |
|
Poor head control, Multiple joint contractures, Oral-pharyngeal dysphagia, Generalized muscle wea... |
OMIM:618065 |
Spinocerebellar Ataxia 17 |
|
Broad-based gait, Ataxia, Aggressive behavior, Chorea, Limb ataxia, Dysmetria, Gait ataxia, Posit... |
OMIM:607136 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Broad-based gait, Ataxia, Apnea, Abdominal distention, Chorea, Difficulty w... |
ORPHA:79097 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Arts Syndrome |
|
Death in infancy, Ataxia, Progressive muscle weakness, Dysphagia |
OMIM:301835 |
Acquired Methemoglobinemia |
|
Respiratory distress, Cyanosis, Abdominal pain, Dyspnea, Hypoxemia, Vomiting |
ORPHA:464453 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Tricuspid regurgitation, Pulmonic stenosis, Restrictive cardiomyopathy, Pulmonary i... |
OMIM:619433 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Torticollis, Dysdiadochokinesis, Gait disturbance, Dysphagia |
ORPHA:98805 |
Amyloidosis, Finnish Type |
|
Cardiomyopathy, Cardiac amyloidosis |
OMIM:105120 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Hand muscle atrophy, Skeletal muscle atrophy, Distal lower limb amyotrophy, Distal muscle weaknes... |
OMIM:205100 |
Duchenne Muscular Dystrophy |
|
Calf muscle hypertrophy, Cardiomyopathy, Flexion contracture, Skeletal muscle atrophy |
ORPHA:98896 |
Dystonia 16 |
|
Gait disturbance, Retrocollis, Dysphagia |
OMIM:612067 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Skeletal muscle atrophy, Dilated cardiomyopathy, Flexion contracture, Myocardial fibrosis, Calf m... |
OMIM:253800 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Congestive heart failure, Cardiomegaly |
OMIM:300886 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myopathy, Rhabdomyolysis, Ataxia, Muscle weakness |
ORPHA:713 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Hy... |
ORPHA:264675 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Ophthalmoplegia, Ophthalmoparesis, Fatigable weakness, Myopathy, Muscle flaccidity, Oculomotor ne... |
ORPHA:257 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Skeletal muscle atrophy, Proximal muscle weakness, Ragged-red muscle fibers, Feeding difficulties... |
OMIM:616239 |
Intestinal Botulism |
|
Nausea and vomiting, Death in infancy, Respiratory insufficiency due to muscle weakness, Dyspnea,... |
ORPHA:178481 |
Chanarin-Dorfman Syndrome |
|
Myopathy, Ataxia, Muscle weakness |
OMIM:275630 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Increased variability in muscle fiber diameter, Flexion contracture, Failure to thrive in infancy |
OMIM:619026 |
Esophageal Atresia |
|
Respiratory distress, Feeding difficulties in infancy, Gastrointestinal dysmotility, Anorectal an... |
ORPHA:1199 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Poor head control, Feeding difficulties, Stridor, Gastroesophageal reflux, ... |
OMIM:615595 |
Marinesco-Sjögren Syndrome |
|
Skeletal muscle atrophy, Ataxia, Myopathy, Muscular dystrophy, Muscle flaccidity, Aplasia/Hypopla... |
ORPHA:559 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red... |
OMIM:610913 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Loss of ambulation, Dysphagia, Muscle weakness, Gait ataxia |
OMIM:249900 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Dilated cardiomyopathy |
ORPHA:70595 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m... |
ORPHA:615 |
Propionic Acidemia |
|
Cardiomyopathy, Arrhythmia, Hepatomegaly |
ORPHA:35 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Feeding difficulties, Dysphagia, Atrial septal defect, Patent foramen ovale |
ORPHA:89844 |
Wolfram Syndrome |
|
Central apnea, Gastrointestinal hemorrhage, Ataxia, Malabsorption, Feeding difficulties in infanc... |
ORPHA:3463 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Abnormality of the gastrointestinal tract, Ataxia, Apnea, Anorexia, Oral-ph... |
ORPHA:2131 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypertension, Macroscopic hematuria, Episo... |
ORPHA:251004 |
Myasthenia Gravis |
|
Bulbar palsy, Myositis, Dyspnea, Ophthalmoparesis, Paresthesia, Dysphagia, Acrocyanosis, Muscle w... |
ORPHA:589 |
Double Outlet Right Ventricle |
|
Cyanosis, Ventricular septal defect, Intestinal malrotation, Tachypnea, Double outlet right ventr... |
ORPHA:3426 |
Hsd10 Disease |
|
Ataxia, Nasogastric tube feeding in infancy, Gastrointestinal dysmotility, Choreoathetosis, Gait ... |
ORPHA:391417 |
Laryngeal Neuroendocrine Tumor |
|
Oral-pharyngeal dysphagia, Anorexia, Exertional dyspnea |
ORPHA:100083 |
Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis, Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common at... |
OMIM:616749 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Apnea, Episodic tachypnea, Dysphagia, Abnormal heart morphology, Aspiration pneumonia, Tube feedi... |
ORPHA:79264 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Congestive heart failure, Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia |
OMIM:605676 |
Neutrophilic Dermatosis, Acute Febrile |
|
Small vessel vasculitis, Dilated cardiomyopathy |
OMIM:608068 |
Benign Familial Infantile Epilepsy |
|
Cyanosis, Apnea |
ORPHA:306 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Tachycardia, Tricuspid regurgitation, Proteinuria, Heparan sulfate excretion in urine, Congestive... |
ORPHA:505248 |
Episodic Ataxia Type 1 |
|
Respiratory distress, Choreoathetosis, Calf muscle hypertrophy, Tip-toe gait, Nausea |
ORPHA:37612 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Unsteady gait, Neuromuscular dysphagia, Falls, Gait imbalance, Loss o... |
ORPHA:240094 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... |
OMIM:612422 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Poor head control, Chorea, Athetosis, Self-injurious behavior, Dysphagia |
OMIM:617493 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co... |
OMIM:610910 |
Xq28 (MECP2) duplication |
|
Feeding difficulties in infancy, Inability to walk, Dysphagia, Gait ataxia, Gastroesophageal refl... |
DECIPHER:45 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Loss of ambulation, Ataxia, Dysmetria, Dysphagia |
OMIM:617916 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Ataxia, Apnea, Ophthalmoplegia, Respiratory insufficiency, Vomiting, Dysphagia, Episodic vomiting |
OMIM:618226 |
H Syndrome |
|
Abnormality of the kidney, Microcytic anemia, Abnormal cardiovascular system physiology, Hepatosp... |
ORPHA:168569 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Death in infancy, Poor head control, Cyanosis, Ataxia, Apnea, Skeletal muscle atrophy, Feeding di... |
OMIM:252010 |
Toxin-Mediated Infectious Botulism |
|
Respiratory insufficiency due to muscle weakness, Dyspnea, Diaphragmatic paralysis, Constipation,... |
ORPHA:230800 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Congestive heart failure, Splenomegaly, Dilated cardiomyop... |
OMIM:615895 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Inability to walk, Flexion ... |
ORPHA:258 |
Axial Osteomalacia |
|
Myopathy |
OMIM:109130 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Cyanosis, Rectal prolapse, Feeding difficulties, Gastroesophageal reflux |
OMIM:619793 |
Huntington Disease |
|
Oral-pharyngeal dysphagia, Aggressive behavior, Inability to walk, Chorea, Generalized muscle wea... |
ORPHA:399 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Dextrocardia, Situs inversus totalis, Bronchiectasis, Immotile c... |
OMIM:606763 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress, Somatic sensory dysfunction, Dysphagia |
ORPHA:240103 |
Intellectual Disability, Birk-Barel Type |
|
Hyperactivity, Foot joint contracture, Spinal muscular atrophy, Fatigable weakness of skeletal mu... |
ORPHA:166108 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Chorea, Dysmetria, Gait ataxia, Dysphagia |
OMIM:618093 |
Developmental And Epileptic Encephalopathy 1 |
|
Choreoathetosis, Dyspnea, Poor head control, Dysphagia |
OMIM:308350 |
Dystonia 31 |
|
Difficulty walking, Dysphagia |
OMIM:619565 |
Cystinosis |
|
Malabsorption, Myopathy, Gait disturbance, Vomiting, Polydipsia, Abnormal repetitive mannerisms, ... |
ORPHA:213 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Ataxia, Dysmetria, Gait ataxia, Dysphagia, Truncal ataxia, Episodic ataxia, Muscle weakness |
OMIM:601338 |
Tonne-Kalscheuer Syndrome |
|
Broad-based gait, Congenital diaphragmatic hernia, Aggressive behavior, Feeding difficulties, Abn... |
OMIM:300978 |
Moebius Syndrome |
|
Respiratory distress, Feeding difficulties in infancy, Facial diplegia, Dysdiadochokinesis, Conge... |
OMIM:157900 |
Antisynthetase Syndrome |
|
Myositis, Telangiectasia of the skin, Myocarditis, Xerostomia, Respiratory insufficiency, Dysphag... |
ORPHA:81 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Poor head control, Ataxia, Chorea, Unsteady gait, Dysmetria, Dysphagia |
ORPHA:79263 |
Pulmonary Hypertension, Primary, 4 |
|
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... |
OMIM:615344 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... |
OMIM:619051 |
Overlap Myositis |
|
Proximal muscle weakness in upper limbs, Proximal muscle weakness, Perifascicular muscle fiber at... |
ORPHA:206572 |
Cln3 Disease |
|
Ataxia, Aggressive behavior, Shuffling gait, Dysphagia, Left ventricular hypertrophy, Loss of amb... |
ORPHA:228346 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Ataxia, Ankle flexion contracture, Knee flexion contracture, Telangiectasia... |
OMIM:608799 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Epistaxis, Pancreatic cysts, Splenomegaly, Hepatosplenomegaly, Anemia, Subco... |
ORPHA:464329 |
Spinocerebellar Ataxia Type 36 |
|
Skeletal muscle atrophy, Ataxia, Bowel incontinence, Limb ataxia, Dysmetria, Dysphagia, Difficult... |
ORPHA:276198 |
Lassa Fever |
|
Nausea and vomiting, Miscarriage, Abdominal pain, Dyspnea, Jaundice, Diarrhea, Dysphagia, Cough, ... |
ORPHA:99824 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Ataxia, Hypoesthesia, Chorea, Dysmetria, Dysphagia |
OMIM:618317 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Gastroesophageal reflux, Apnea |
ORPHA:1949 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Situs inversus totalis, Feeding difficulties in infancy, Malnutrition, Uppe... |
OMIM:612776 |
Hypoadrenocorticism, Familial |
|
Feeding difficulties in infancy, Cyanosis, Apnea, Vomiting |
OMIM:240200 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Ragged-red muscle fibers, Dysphagia, Nasogastric tube feeding |
ORPHA:477774 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Abnormal cardiac septum morphology, Respiratory insufficiency |
OMIM:601612 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Ataxia, Progressive proximal muscle weakness, Cardiomyopathy, Myopathy, Shoulder girdle muscle we... |
ORPHA:98907 |
Pulmonary Arteriovenous Malformation |
|
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Gastrointestinal infarctions, Pleural em... |
ORPHA:2038 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Hypoxemia... |
ORPHA:36238 |
Aortic Arch Interruption |
|
Respiratory distress, Cyanosis, Bicuspid aortic valve, Ventricular septal defect, Feeding difficu... |
ORPHA:2299 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Death in infancy, Inability to walk, Feeding difficulties, Choreoathetosis, Constipation, Gastroe... |
OMIM:617664 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Atrial septal defect, Prominent superficial veins, Gastrointestinal hemorrh... |
ORPHA:363705 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size, Hypertrophic ca... |
ORPHA:2348 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... |
OMIM:614473 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Ataxia, Apnea, Dyspnea, Chorea, Dilated cardiomyopathy, Episodic respiratory distress, Ragged-red... |
ORPHA:255210 |
Spinocerebellar Ataxia 44 |
|
Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia |
OMIM:617691 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Miscarriage, Ataxia, Inability to walk, Unsteady gait, Gait ataxia, Dysphagia, Gastrostomy tube f... |
ORPHA:1947 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Ataxia, Apnea, F... |
OMIM:618426 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Skeletal muscle atrophy, Proximal muscle weakness, Limb-girdle muscle weakness, Premature graying... |
OMIM:112250 |
Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome |
|
Limb joint contracture, Ankle flexion contracture, Elbow flexion contracture, Knee flexion contra... |
ORPHA:280384 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, In... |
ORPHA:210122 |
Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu... |
OMIM:224700 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress |
OMIM:615993 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Distal muscle weakness, Ventricular septal defect, Ataxia, Multiple join... |
ORPHA:506 |
Chylomicron Retention Disease |
|
Abdominal distention, Diarrhea, Impaired proprioception, EMG: myopathic abnormalities, Myopathy, ... |
ORPHA:71 |
Richieri Costa-Da Silva Syndrome |
|
Decreased muscle mass, Diastasis recti, Inability to walk, Skeletal muscle hypertrophy, Falls, Dy... |
ORPHA:3101 |
Congenital Myopathy 9A |
|
EMG: myopathic abnormalities, Obesity |
OMIM:618822 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Choreoathetosis, Dysphagia |
OMIM:261630 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Poor head control, Unsteady gait, Knee flexion contracture, Calf muscle hyp... |
OMIM:618733 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomyopathy |
OMIM:613313 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Hyperactivity, Neonatal respiratory distress, Facial hypotonia, Abdominal pain, Encopresis, Diarr... |
ORPHA:589821 |
Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
Melas |
|
Progressive external ophthalmoplegia, Ataxia, Intestinal pseudo-obstruction, Gastrointestinal dys... |
ORPHA:550 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Left ventricular hypertrophy, Tachycardia, Dilated cardiomyopathy |
OMIM:618321 |
Pparg-Related Familial Partial Lipodystrophy |
|
Calf muscle pseudohypertrophy, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertr... |
ORPHA:79083 |
Encephalopathy, Ethylmalonic |
|
Death in infancy, Ataxia, Chronic diarrhea, Feeding difficulties, Acrocyanosis, Petechiae |
OMIM:602473 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven... |
OMIM:300952 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Inability to walk, Flexion contracture, Gait ataxia, Feeding difficulties, ... |
OMIM:619383 |
Familial Cutaneous Collagenoma |
|
Atrial septal defect, Congestive heart failure, Angina pectoris, Cardiomyopathy |
ORPHA:53296 |
Pontocerebellar Hypoplasia, Type 16 |
|
Skeletal muscle atrophy, Apnea, Limb hypertonia, Dysphagia |
OMIM:619527 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Unsteady gait, Dysphagia, Spastic gait, Impaired vibration sensation at a... |
OMIM:616795 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Ataxia, Progressive muscle weakness, Ragged-red muscle fibers, Decreased level of coenzyme Q10 in... |
OMIM:607426 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Proportionate short stature, Dilated cardiomyopathy, Intrauterine growth r... |
ORPHA:71212 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Bradycardia, Intrauterine growth retardation, Hypertrophic ca... |
OMIM:614702 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Dysphagia |
ORPHA:97285 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... |
ORPHA:57777 |
Chiari Malformation Type I |
|
Unsteady gait, Gait ataxia, Paresthesia, Dysphagia, Limb muscle weakness |
OMIM:118420 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Ataxia, Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding diffi... |
ORPHA:927 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Pontocerebellar Hypoplasia, Type 17 |
|
Ventricular septal defect, Secundum atrial septal defect, Respiratory insufficiency, Gastroesopha... |
OMIM:619909 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Hyperactivity, Ventricular septal defect, At... |
ORPHA:209905 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Ataxia, Truncal ataxia, Limb ataxia, Gait disturbance, Dysphagia |
OMIM:614229 |
Spinocerebellar Ataxia 2 |
|
Impaired vibratory sensation, Ataxia, Ophthalmoplegia, Unsteady gait, Limb ataxia, Dysmetria, Pro... |
OMIM:183090 |
Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Pericardial effusion, Dyspnea, Hemothorax, Hypoxemia, Elevated pulmonary artery pressur... |
ORPHA:199241 |
Absence Of The Pulmonary Artery |
|
Orthopnea, Cyanosis, Abnormal hemidiaphragm morphology, Cardiomegaly, Nonproductive cough, Dyspne... |
ORPHA:980 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Limb joint contracture, Ankle flexion contracture, Feeding difficulties in infancy, Knee flexion ... |
ORPHA:284417 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Calcinosis, Pericarditis, Myositis, Telangiectasia of the skin, Abdo... |
ORPHA:93672 |
Diffuse Cutaneous Systemic Sclerosis |
|
Nausea and vomiting, Telangiectasia of the skin, Malabsorption, Dyspnea, Flexion contracture, Xer... |
ORPHA:220393 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Akinesia, Cardiomegaly, Dysphagia, Neonatal death, Arthrogryposis mu... |
OMIM:608013 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Feeding difficulties |
OMIM:300934 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect, Tracheoesophageal fistula, Dysphagia |
OMIM:619083 |
Botulism |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Diaphragmatic paralysis, Xerostomia, Respiratory i... |
ORPHA:1267 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Short stature, Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal d... |
OMIM:249270 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure, Addictive al... |
ORPHA:178320 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Macroglossia |
ORPHA:1423 |
Viss Syndrome |
|
Chronic gastritis, Prominent superficial blood vessels, Right ventricular dilatation, Gastroesoph... |
OMIM:619472 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney |
OMIM:608022 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance |
OMIM:619466 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... |
ORPHA:411696 |
Wound Botulism |
|
Respiratory insufficiency due to muscle weakness, Dyspnea, Diaphragmatic paralysis, Constipation,... |
ORPHA:178475 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon co... |
OMIM:620351 |
Pontocerebellar Hypoplasia, Type 8 |
|
Ventricular septal defect, Chorea, Gait ataxia, Feeding difficulties, Gastroesophageal reflux, Co... |
OMIM:614961 |
Igg4-Related Kidney Disease |
|
Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nephritis, Abnorma... |
ORPHA:449395 |
Mercury Poisoning |
|
Respiratory distress, Anorexia, Dyspnea, Generalized muscle weakness, Episodic abdominal pain, Re... |
ORPHA:330021 |
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects |
|
Restlessness, Aggressive behavior, Feeding difficulties, Dysphagia, Self-mutilation |
OMIM:615075 |
Aicardi-Goutieres Syndrome 1 |
|
Poor head control, Feeding difficulties in infancy, Inability to walk, Erythema, Multiple gastric... |
OMIM:225750 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
Naxos Disease |
|
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... |
ORPHA:34217 |
Peroxisome Biogenesis Disorder 8B |
|
Ataxia, Dysesthesia, Unsteady gait, Dysmetria, Gait ataxia, Tip-toe gait, Constipation, Decreased... |
OMIM:614877 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Vomiting, Aggressive behavior |
OMIM:237310 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Decreased muscle mass, Abnormal heart valve morphology, Dysesthesia, Pneumothorax, Malrotation of... |
ORPHA:2953 |
Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
Abetalipoproteinemia |
|
Impaired vibratory sensation, Broad-based gait, Ataxia, Impaired distal proprioception, Cardiomeg... |
ORPHA:14 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Dominant Beta-Thalassemia |
|
Hypoplasia of the musculature, High-output congestive heart failure, Splenomegaly, Dilated cardio... |
ORPHA:231226 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla... |
OMIM:130650 |
Neuraminidase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Short stature, Cardiomegaly, Splenomegaly, Cardiomyopathy |
OMIM:256550 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Intestinal edema, Abdominal pain, Dyspnea, Diarrhea, Urticaria, Dermatograp... |
ORPHA:100050 |
Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Splenomegaly, Enlarged kidney, Me... |
OMIM:276700 |
Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Cyanosis |
OMIM:257500 |
Refsum Disease, Classic |
|
Cardiomegaly, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, Arrhythmia |
OMIM:266500 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Feeding difficulties, Choreoathetosis, Dysphagia, Poor suck, Limb hypertonia |
OMIM:261640 |
Spastic Paraplegia 54, Autosomal Recessive |
|
Bowel incontinence, Distal upper limb muscle weakness, Constipation, Dysphagia, Distal lower limb... |
OMIM:615033 |
Alstrom Syndrome |
|
Hepatomegaly, Short stature, Congestive heart failure, Dilated cardiomyopathy, Hypertension |
OMIM:203800 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Progressive external ophthalmoplegia, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hy... |
OMIM:617713 |
Nipah Virus Disease |
|
Respiratory distress, Anorexia, Nausea and vomiting, Cough |
ORPHA:99825 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Progeroid facial appearance, Ophthalmoplegia, Unsteady gait, Impaired proprioception, Limb ataxia... |
ORPHA:412057 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Feeding difficulties in infancy, Abdominal distention, Macroglossia, Consti... |
ORPHA:226313 |
Scimitar Syndrome |
|
Respiratory distress, Ventricular septal defect, Dextrocardia, Mitral atresia, Abnormal hemidiaph... |
ORPHA:185 |
Sepsis In Premature Infants |
|
Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Gastrointestinal dysm... |
ORPHA:90051 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Angioedema, Erythema, Upper airway obstruction, Urticaria |
ORPHA:100057 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Early Myoclonic Encephalopathy |
|
Poor suck, Dysphagia, Feeding difficulties |
ORPHA:1935 |
Congenital Disorder Of Glycosylation, Type Im |
|
Dilated cardiomyopathy, Bradycardia |
OMIM:610768 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, C... |
ORPHA:137675 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Somatic sensory dysfunction, Gait disturbance, Shuffling gait, Dysphagia |
OMIM:221820 |
Machado-Joseph Disease |
|
Impaired vibratory sensation, Ataxia, External ophthalmoplegia, Limb ataxia, Dysphagia, Progressi... |
OMIM:109150 |
Lethal Congenital Contracture Syndrome 9 |
|
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo... |
OMIM:616503 |
Myasthenia Gravis |
|
Facial palsy, Proximal muscle weakness, Fatigable weakness, Dysphagia, Limb muscle weakness |
OMIM:254200 |
Pituitary Adenoma 1, Multiple Types |
|
Left ventricular hypertrophy, Hypertension, Cardiomyopathy |
OMIM:102200 |
Foodborne Botulism |
|
Nausea and vomiting, Abdominal pain, Respiratory insufficiency due to muscle weakness, Diarrhea, ... |
ORPHA:228371 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Proteinuria, Epistaxis, Chronic neutropenia, Stage 5 chronic kidney disease, Nephro... |
ORPHA:79259 |
Congenital Myopathy 22B, Severe Fetal |
|
Waddling gait, Respiratory distress, Scapular winging, Hip contracture, Limb joint contracture, S... |
OMIM:620369 |
Iatrogenic Botulism |
|
Dyspnea, Diaphragmatic paralysis, Xerostomia, Constipation, Dysphagia, Muscle weakness |
ORPHA:254509 |
Immunodeficiency 10 |
|
Myopathy |
OMIM:612783 |
Xanthinuria, Type I |
|
Myopathy |
OMIM:278300 |
Lopes-Maciel-Rodan Syndrome |
|
Unsteady gait, Bruxism, Feeding difficulties, Agitation, Dysphagia, Abnormal repetitive mannerisms |
OMIM:617435 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Skeletal muscle atrophy, Pulmonary embolism, Feeding difficulties in infanc... |
ORPHA:3260 |
Late-Infantile/Juvenile Krabbe Disease |
|
Ataxia, Neuromuscular dysphagia, Feeding difficulties, Impaired tactile sensation, Upper limb mus... |
ORPHA:206443 |
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity |
|
Impaired vibration sensation in the lower limbs, Impaired proprioception, Dysphagia, Gait ataxia,... |
ORPHA:352641 |
Cleft Lip And Alveolus |
|
Abnormality of masticatory muscle, Abnormal pattern of respiration, Dysphagia |
ORPHA:141291 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Bowel incontinence, Respiratory insufficiency, Gait disturbance, Shuffling gait, Dysphagia, Muscl... |
ORPHA:289560 |
Buerger Disease |
|
Acrocyanosis, Paresthesia |
ORPHA:36258 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hepatomegaly, Dilated cardiomyopathy, Rhabdomyolysis, Concentric hypertrophic cardiomyopathy, Int... |
OMIM:610505 |
Infantile Krabbe Disease |
|
Respiratory distress, Poor head control, Nasogastric tube feeding in infancy, Feeding difficultie... |
ORPHA:206436 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis, Overriding aorta, Pulmonic stenosis, Atrial septal defect, Double outlet right ventricl... |
ORPHA:3304 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Nephrolithiasis, Hypertension, Focal segmental glomerulosclerosis, Enl... |
OMIM:232200 |
16Q24.3 Microdeletion Syndrome |
|
Mitral regurgitation, Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:261250 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Arrhythmia, Cardiomyopathy |
ORPHA:3222 |
Vici Syndrome |
|
Postnatal growth retardation, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, M... |
OMIM:242840 |
Beta-Thalassemia Major |
|
Hepatomegaly, Hypoplasia of the musculature, High-output congestive heart failure, Splenomegaly, ... |
ORPHA:231214 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea, Feeding difficulties |
OMIM:614669 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Somatic sensory dysfunction, Proximal muscle weakness, Gowers sign, Increased variability in musc... |
ORPHA:502423 |
Ethylene Glycol Poisoning |
|
Cyanosis, Ataxia, Facial palsy, Nausea, Gastritis, Ophthalmoplegia, Tachypnea, Episodic respirato... |
ORPHA:31826 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Bulbar palsy, Ataxia, Dysphagia, Proximal muscle weakness |
OMIM:615911 |
Familial Isolated Hypoparathyroidism |
|
Myopathy |
ORPHA:2238 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Dilated cardiomyopathy, Short stature |
OMIM:613989 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Restlessness, Poor head control, Ataxia, Chorea, Choreoathetosis, Falls, Agitation, Dysphagia |
ORPHA:13 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Poor head control, Ataxia, Aggressive behavior, Dysmetria, Cardiomyopathy, Athetosis, Generalized... |
ORPHA:572798 |
Eosinophilic Fasciitis |
|
Muscular edema, Myositis, Acrocyanosis, Paresthesia |
ORPHA:3165 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Conjunctival telangiectasia, Distal muscle weakness, Chorea, Impaired distal vibration sensation,... |
OMIM:606002 |
Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc... |
ORPHA:3342 |
Pulmonary Alveolar Microlithiasis |
|
Mitral valve calcification, Cyanosis, Increased pulmonary vascular resistance, Nonproductive coug... |
ORPHA:60025 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Acute hepatic failure, Pain insensitivity, Broad-based gait, Ataxia, Distal... |
OMIM:256810 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Cyanosis, Ventricular septal defect, Cardiomegaly, Bicuspid pulmona... |
ORPHA:3427 |
Waardenburg Syndrome Type 3 |
|
Atrial septal defect, Acrocyanosis, Camptodactyly of finger, Tracheomalacia |
ORPHA:896 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Neonatal respiratory distress, Rhabdomyolysis, Episodic abdominal pain, Cardiomyopathy, Myopathy,... |
ORPHA:157 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Ataxia, Abdominal pain, Diarrhea, Erythema, ... |
ORPHA:343 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... |
ORPHA:324410 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Choreoathetosis, Chorea, Respiratory distress, Nausea and vomiting |
ORPHA:289916 |
German Syndrome |
|
Camptodactyly of finger, Abnormal cardiac septum morphology, Dysphagia, Arthrogryposis multiplex ... |
ORPHA:2077 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Polysplenia, Cystic renal dysplasia, Enlarged kidney |
OMIM:200995 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... |
ORPHA:70588 |
Alexander Disease Type Ii |
|
Limb muscle weakness, Ataxia, Dysphagia |
ORPHA:363722 |
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter |
OMIM:619173 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Intrauterine growth retardation, Dilated cardiomyopathy, Short stature, Disproportionate short-li... |
OMIM:616541 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, Decreased muscle mass, Flexion contracture, Acute infantile spinal muscular... |
OMIM:271225 |
Developmental And Epileptic Encephalopathy 72 |
|
Inability to walk, Dysphagia |
OMIM:618374 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Ataxia, Inability to walk, Chorea, Feeding difficulties, Dysphagia |
OMIM:617672 |
Malignant Hyperthermia Of Anesthesia |
|
Acute hepatic failure, Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, Hypercapnia, Tachyp... |
ORPHA:423 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven... |
OMIM:601005 |
Endocrine-Cerebroosteodysplasia |
|
Small scrotum, Hypospadias, Cryptorchidism, Sex reversal, Microphallus, Ambiguous genitalia, Hype... |
OMIM:612651 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:169154 |
Oromandibular Dystonia |
|
Respiratory distress, Torticollis, Dysphagia, Bruxism |
ORPHA:93958 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Episodic tachypnea, Feeding difficulties, Apneic episodes in infancy, Dysphagia, Meckel diverticu... |
ORPHA:163961 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Nausea and vomiting, Ataxia, Anorexia, Tachypnea |
ORPHA:79242 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Hepatomegaly, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, A... |
OMIM:212138 |
Hyperprolinemia Type 2 |
|
Abdominal pain, Dysesthesia, Aggressive behavior, Diarrhea, Unsteady gait, Ophthalmoparesis, Dist... |
ORPHA:79101 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Cyanosis, Ventricular septal defect, Abnormal stomach morphology, Neonatal ... |
ORPHA:141127 |
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
EMG: myopathic abnormalities, Ophthalmoplegia, Muscle weakness |
ORPHA:457365 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... |
OMIM:615745 |
Unilateral Polymicrogyria |
|
Poor head control, Cyanosis, Apnea, Epistaxis, Abnormal heart morphology, Pseudobulbar paralysis,... |
ORPHA:268943 |
Al Amyloidosis |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Gastroparesis, Nonproduct... |
ORPHA:85443 |
Pontocerebellar Hypoplasia, Type 2A |
|
Restlessness, Feeding difficulties in infancy, Chorea, Death in childhood, Congenital contracture... |
OMIM:277470 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Impaired vibratory sensation, Ataxia, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia, Dysphagia |
OMIM:609270 |
Cach Syndrome |
|
Flexion contracture, Truncal ataxia, Limb ataxia, Dysmetria, Feeding difficulties, Vomiting, Dysp... |
ORPHA:135 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Choreoathetosis, Limb hypertonia, Dysphagia |
OMIM:233910 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Proximal muscle weakness, Centrally nucleated skeletal muscle fibers, Pyloric stenosis, Generaliz... |
OMIM:613327 |
4H Leukodystrophy |
|
Ataxia, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia, Dysphagia |
ORPHA:289494 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO |
ORPHA:747 |
Hyperparathyroidism, Transient Neonatal |
|
Hyperparathyroidism, Unilateral renal agenesis, Ovarian cyst, Splenic cyst, Enlarged kidney |
OMIM:618188 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip contracture, Distal muscle weakness, Facial palsy, Inability to walk, Achilles tendon contrac... |
OMIM:301041 |
Muscle-Eye-Brain Disease |
|
Myopathy, Gait disturbance |
ORPHA:588 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Pain insensitivity, Scapular winging, Ventricular septal defect, Aggressive behavior, Feeding dif... |
OMIM:617061 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Vasculitis, Lymphocytosis, Hemophagocy... |
OMIM:308240 |
Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy |
OMIM:252920 |
Developmental And Epileptic Encephalopathy 46 |
|
Limb hypertonia, Feeding difficulties, Dysphagia |
OMIM:617162 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Telangiectasia of the skin, Hydrocele testis, Nephroblastoma, Ovarian serous cystadenoma, Enlarge... |
ORPHA:276280 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis, Aggressive behavior, Gait disturbance, Gait imbalance, Difficulty walking, Dysphagia |
ORPHA:488627 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomyopath... |
OMIM:235200 |
Machado-Joseph Disease Type 3 |
|
Distal lower limb amyotrophy, Progressive external ophthalmoplegia, Skeletal muscle atrophy, Dist... |
ORPHA:276244 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Inability to walk, Dysphagia, Tip-toe gait, Gait disturbance, Aspiration pneumonia, Cough, Attent... |
ORPHA:216866 |
Mepan Syndrome |
|
Ataxia, Chorea, Feeding difficulties, Gait disturbance, Dysphagia, Muscle weakness |
ORPHA:508093 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... |
OMIM:619350 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Jaundice, Vomiting, Neonatal death, Nausea, Muscle weakness |
OMIM:231680 |
Ohdo Syndrome, Sbbys Variant |
|
Dilated cardiomyopathy |
OMIM:603736 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul... |
OMIM:612949 |
Odontomatosis-Aortae Esophagus Stenosis Syndrome |
|
Myocarditis, Hepatic failure, Dysphagia |
ORPHA:2724 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Pain insensitivity, Ataxia, Facial hypotonia, Inability to walk, Chorea, Repetitive compulsive be... |
OMIM:300260 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Renal insufficiency, Recurrent urinary tract infections, Portal hype... |
ORPHA:731 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defe... |
OMIM:306955 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Dysphagia |
OMIM:264470 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormality of the gastrointestinal tract, Dyspepsia, Gastrointestinal hemorrhage, Intestinal obs... |
ORPHA:85450 |
Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Feeding difficulties in infancy, Celiac disease, Gastroesophageal reflux, Attention deficit hyper... |
ORPHA:576283 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Death in early adulthood, Ataxia, Dysmetria, Dysphagia, Loss of ambulation |
OMIM:607694 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Pulmonary arterial hypertension, Poor head control, Skeletal muscle atrophy |
OMIM:619272 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Skeletal muscle atrophy, Dilated cardiomyopathy, Flexion contracture, Growth delay, Delayed puberty |
ORPHA:89842 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Exertional dyspnea |
OMIM:250800 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Postnatal growth retardation, Ventricular septal defect, Diastasis recti, Abnormal heart morphology |
ORPHA:254534 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Feeding difficulties in infancy, Recurrent pneumoni... |
ORPHA:314655 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Crackles, Myocarditis, Nonproductive cough, Fulminant hepatitis, Odynophagi... |
ORPHA:319213 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Generalized limb muscle atrophy, Cardiomyopathy, Facial diplegia, Lower limb muscle weakness, Foo... |
ORPHA:521411 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f... |
ORPHA:1677 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Ventricular septal defect, Inability to walk, Abnormal heart morphology, Gastroesophageal reflux,... |
OMIM:618494 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Skeletal muscle atrophy, Ataxia, Bowel incontinence, Ophthalmoplegia, Loss of ability to walk in ... |
OMIM:300243 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Tachypnea, Left ventricular noncompaction |
OMIM:616501 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Impaired vibratory sensation, Decreased muscle mass, Poor wound healing, Generalized muscle weakn... |
ORPHA:1900 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Poor head control, Ankle flexion contracture, Inability to walk, Dysphagia, Volvulus, Abnormal re... |
OMIM:617802 |
Machado-Joseph Disease Type 1 |
|
Distal lower limb amyotrophy, Progressive external ophthalmoplegia, Skeletal muscle atrophy, Prog... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Distal lower limb amyotrophy, Progressive external ophthalmoplegia, Skeletal muscle atrophy, Prog... |
ORPHA:276241 |
Ethylmalonic Encephalopathy |
|
Diarrhea, Acrocyanosis, Ataxia, Petechiae |
ORPHA:51188 |
Dystonia 28 |
|
Torticollis, Feeding difficulties, Attention deficit hyperactivity disorder, Dysphagia |
ORPHA:589618 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Poor head control, Sudden episodic apnea, Feeding difficulties in infancy, Scissor gait, Neuromus... |
ORPHA:466722 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Achalasia, Cutis marmorata, Livedo reticularis, Dysphagia |
OMIM:615750 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Skeletal muscle atrophy, Apnea, Aggressive behavior, Unsteady gait, Flexion... |
ORPHA:17 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress |
OMIM:614741 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Dysphagia |
OMIM:300857 |
Cardiac Valvular Dysplasia 1 |
|
Cyanosis, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmon... |
OMIM:212093 |
Leber Optic Atrophy |
|
Myopathy |
OMIM:535000 |
Stormorken Syndrome |
|
Myopathy, Bruising susceptibility, Epistaxis, Proximal muscle weakness |
OMIM:185070 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Respiratory insufficiency, Dysphagia |
OMIM:618230 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Feeding difficulties in infancy, Tachypnea |
ORPHA:45452 |
Niemann-Pick Disease, Type C2 |
|
Death in infancy, Neonatal respiratory distress, Ataxia, Jaundice, Respiratory insufficiency, Dys... |
OMIM:607625 |
Toxic Epidermal Necrolysis |
|
Respiratory distress, Acute hepatic failure, Nausea and vomiting, Gastrointestinal hemorrhage, Ab... |
ORPHA:537 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Exercise-induced rhabdomyolysis, Sudden cardiac death, Cardiomegaly, Reduced left v... |
OMIM:201475 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Ambiguous genitalia, Micropenis, Renal dysplasia, Enlarged kidney |
OMIM:613091 |
Cleft Larynx, Posterior |
|
Aspiration, Cyanosis |
OMIM:215800 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis |
ORPHA:922 |
Lymphoid Interstitial Pneumonia |
|
Raynaud phenomenon, Hepatomegaly, Pulmonary venous hypertension, Enlarged kidney |
ORPHA:79128 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Tricuspid regurgitation, Ataxia, Inability to walk, Dysmetria, Right bundle branch block, Mitral ... |
OMIM:619576 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Akinesia, Aggressive behavior, Leg muscle stiffness, Distal sensory impairme... |
OMIM:606693 |
Congenital Gerbode Defect |
|
Ventricular septal defect, Crackles, Dyspnea, Right atrial enlargement, Pulmonary arterial hypert... |
ORPHA:99095 |
Abeta Amyloidosis, Iowa Type |
|
Gait disturbance, Dysphagia |
ORPHA:324708 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Feeding difficulties, Death in childhood |
OMIM:615597 |
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
|
Dysphagia, Feeding difficulties |
OMIM:613668 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Nephropathy, Glomerulop... |
ORPHA:324 |
Mohr-Tranebjaerg Syndrome |
|
Intrinsic hand muscle atrophy, Dysphagia |
OMIM:304700 |
Angelman Syndrome Due To A Point Mutation |
|
Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Feeding difficulties, Gait ... |
ORPHA:411511 |
Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Heart m... |
OMIM:252500 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Apnea, Bronchiectasis, Respiratory insufficiency, Feeding difficulties, Aspiration pneumonia, Dys... |
OMIM:618253 |
Leukodystrophy, Hypomyelinating, 15 |
|
Ataxia, Feeding difficulties, Athetosis, Dysphagia, Loss of ambulation, Tube feeding |
OMIM:617951 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Cyanosis, Ventricular septal defect, Partial anomalous pulmonary venous return,... |
OMIM:617478 |
Potocki-Lupski Syndrome |
|
Hyperactivity, Oral-pharyngeal dysphagia, Feeding difficulties in infancy, Abnormal repetitive ma... |
OMIM:610883 |
Dravet Syndrome |
|
Progressive gait ataxia, Obsessive-compulsive trait, Cyanotic episode, Impulsivity |
ORPHA:33069 |
Gm1 Gangliosidosis |
|
Ataxia, Ventricular septal defect, Camptodactyly of finger, Unsteady gait, Aplasia/Hypoplasia of ... |
ORPHA:354 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Aggressive behavior, Chorea, Pneumothorax, Dysphagia |
OMIM:619738 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Progressive external ophthalmoplegia, Skeletal muscle atrophy, Proximal muscle weakness, Type 2 m... |
OMIM:619743 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Leukopenia, Internal hemorrhage, Hepatom... |
ORPHA:99827 |
Spinocerebellar Ataxia 10 |
|
Limb ataxia, Distal sensory impairment, Dysmetria, Progressive cerebellar ataxia, Gait ataxia, Dy... |
OMIM:603516 |
Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Pneumonia, Abnormal heart morphology |
ORPHA:1867 |
Meacham Syndrome |
|
Accessory spleen, Septate vagina, Male pseudohermaphroditism, Horseshoe kidney, Blind vagina, Bic... |
OMIM:608978 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Restlessness, Flexion contracture, Feeding difficulties, Gastrostomy tube f... |
ORPHA:544503 |
Noonan Syndrome 7 |
|
Feeding difficulties in infancy, Nasogastric tube feeding in infancy, Impaired oropharyngeal swal... |
OMIM:613706 |
Pontocerebellar Hypoplasia, Type 9 |
|
Macroglossia, Facial hypotonia, Dysphagia |
OMIM:615809 |
Hec Syndrome |
|
Cardiomyopathy, Arrhythmia, Endocardial fibroelastosis |
ORPHA:2119 |
Japanese Encephalitis |
|
Respiratory distress, Skeletal muscle atrophy, Facial palsy, Anorexia, Abdominal pain, Diarrhea, ... |
ORPHA:79139 |
Alexander Disease Type I |
|
Ataxia, Vomiting, Dysphagia |
ORPHA:363717 |
Slc35A1-Cdg |
|
Hypoxemia, Pneumonia, Respiratory distress, Subcutaneous hemorrhage |
ORPHA:238459 |
Systemic Sclerosis |
|
Flexion contracture, Intestinal bleeding, Interstitial cardiac fibrosis, Gastroesophageal reflux,... |
ORPHA:90291 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Acrocyanosis, Joint contracture of the 5th finger, Truncal ataxia |
OMIM:614407 |
Cardiac Valvular Dysplasia 2 |
|
Bicuspid aortic valve, Central cyanosis, Pulmonic stenosis, Subvalvular aortic stenosis, Dysplast... |
OMIM:620067 |
Pontocerebellar Hypoplasia, Type 2B |
|
Death in infancy, Chorea, Feeding difficulties, Death in childhood, Dysphagia, Poor suck, Limb hy... |
OMIM:612389 |
Myotonic Dystrophy 2 |
|
Tachycardia, Premature ventricular contraction, Right bundle branch block, Oligozoospermia, Hypog... |
OMIM:602668 |
Ogden Syndrome |
|
Global glomerulosclerosis, Premature atrial contractions, Cardiomegaly, Cryptorchidism, Ventricul... |
OMIM:300855 |
Tetrasomy 5P |
|
Respiratory distress, Pulmonary arterial hypertension, Cyanosis, Aplasia/Hypoplasia of the abdomi... |
ORPHA:3309 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Chorea, Choreoathetosis, Disinhibition, Dysphagia, Hypomimic face |
OMIM:606159 |
Collagenoma, Familial Cutaneous |
|
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... |
OMIM:115250 |
Miller Fisher Syndrome |
|
Bulbar palsy, Ataxia, Facial palsy, External ophthalmoplegia, Internal ophthalmoplegia, Paresthes... |
ORPHA:98919 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... |
ORPHA:1457 |
Glycogen Storage Disease Vii |
|
Increased muscle glycogen content, Increased variability in muscle fiber diameter |
OMIM:232800 |
Xp21 Deletion Syndrome |
|
Nausea and vomiting, Decreased muscle mass, Myopathy, Calf muscle hypertrophy, Apneic episodes in... |
ORPHA:261476 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Abnormal heart morphology, Growt... |
ORPHA:79282 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Respiratory failure requiring assisted ventilation, Skeletal muscle atrophy, Ataxia, Bowel incont... |
ORPHA:496641 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Angina pectoris, Splenomegaly, Increased muscle lipid content, Abnormality of the c... |
ORPHA:565612 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Bowel incontinence, Respiratory failure, Gastroesophageal re... |
OMIM:616482 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Rhabdomyolysis, Vomiting, Decreased liver function |
OMIM:602199 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Hepatomegaly, Nephroblastoma, Cardiomegaly, Splenomegaly, Cryptorchidism, A... |
ORPHA:116 |
Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Feeding difficulties, Self-injurious behavi... |
ORPHA:494344 |
Tay-Sachs Disease |
|
Skeletal muscle atrophy, Hip flexor weakness, Distal muscle weakness, Quadriceps muscle atrophy, ... |
ORPHA:845 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Neonatal death, Cardiomyopathy, Intrauterine growth retardation |
OMIM:618839 |
Choreoacanthocytosis |
|
Peroneal muscle atrophy, Chorea, Compulsive behaviors, Muscle fiber atrophy, Loss of ambulation, ... |
ORPHA:2388 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Allergic rhinitis, Abdominal pain, Malabsorption, Asth... |
ORPHA:2070 |
Sweet Syndrome |
|
Small vessel vasculitis, Dilated cardiomyopathy, Myositis |
ORPHA:3243 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Ataxia, Limb joint contracture, Chorea, Feeding difficulties, Athetosis, Gait disturbance, Dyspha... |
OMIM:617282 |
Q Fever |
|
Respiratory distress, Pericarditis, Abnormal heart valve morphology, Pneumonia, Anorexia, Pericar... |
ORPHA:781 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiac arrest, Hypotension |
ORPHA:20 |
7Q31 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Hyperactivity, Torticollis, Nasogastric tube feeding in infancy, Asthma,... |
ORPHA:251061 |
Spinocerebellar Ataxia Type 8 |
|
Impaired vibratory sensation, Ataxia, Unsteady gait, Limb ataxia, Gait ataxia, Dysphagia, Aspiration |
ORPHA:98760 |
Radio-Tartaglia Syndrome |
|
Ventricular septal defect, Ataxia, Impulsivity, Aggressive behavior, Gastroesophageal reflux, Gai... |
OMIM:619312 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Reduced subcutaneous adipose tissue, Progeroid facial appearance, Proximal upper limb muscle hype... |
ORPHA:280365 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Dilated cardiomyopathy, Growth delay, Hypertension, Biventricular hypertrophy, Thir... |
OMIM:619573 |
Tetanus |
|
Respiratory distress, Bowel incontinence, Abdominal pain, Tachypnea, Dysphagia |
ORPHA:3299 |
Optic Atrophy 11 |
|
Facial diplegia, Increased variability in muscle fiber diameter, Fiber type grouping |
OMIM:617302 |
Pontine Tegmental Cap Dysplasia |
|
Ataxia, Facial palsy, Dysmetria, Feeding difficulties, Dysphagia, Aspiration |
OMIM:614688 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Ataxia, Impaired distal proprioception, Impaired vibration sensation in the lower limbs, Dysmetri... |
ORPHA:447896 |
Postencephalitic Parkinsonism |
|
Akinesia, Generalized muscle weakness, Abnormal respiratory system physiology, Dysphagia, Paresth... |
ORPHA:97349 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Impaired myocardial contractility, Hypovolemic shock, Cardiomyopathy, Camptodactyly... |
ORPHA:158687 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ataxia, Acute rhabdomyolysis, Oral-pharyngeal dysphagia, Rhabdomyolysis, Gait ataxia, Gait distur... |
OMIM:616878 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Intrauterine growth retardation, Cardiomegaly |
OMIM:618838 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure, Ventricular septal defect |
OMIM:617895 |
Juvenile Sialidosis Type 2 |
|
Ataxia, Dysmetria, Abnormal heart morphology, Dysphagia, Loss of ambulation |
ORPHA:93399 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Chronic neutropenia, Neph... |
ORPHA:500095 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Ketonuria, Ataxia, Cardiac conduction abnormality, Congestive h... |
ORPHA:466677 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Skeletal muscle atrophy, Abdominal wall muscle weakness, Cutis marmorata, S... |
ORPHA:109 |
Carey-Fineman-Ziter Syndrome |
|
Skeletal muscle atrophy, Aplasia of the pectoralis major muscle, Myopathy, Facial palsy |
ORPHA:1358 |
Listeriosis |
|
Respiratory distress, Pericarditis, Somatic sensory dysfunction, Miscarriage, Ataxia, Pneumonia, ... |
ORPHA:533 |
Localized Scleroderma |
|
Skeletal muscle atrophy, Erythema, Abnormality on pulmonary function testing, Flexion contracture... |
ORPHA:90289 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Apnea, Hepatic failure |
OMIM:261680 |
Emanuel Syndrome |
|
Multiple joint contractures, Ventricular septal defect, Truncus arteriosus, Congenital diaphragma... |
ORPHA:96170 |
Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Apnea, Cardiomegaly, Chronic constipation, Atrial septal d... |
ORPHA:79330 |
Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Neck flexor weakness, Intestinal pseudo-obstruction, Oral-pharyngeal dys... |
ORPHA:273 |
Reynolds Syndrome |
|
Telangiectasia of the skin, Abnormal gastric mucosa morphology, Jaundice, Xerostomia, Respiratory... |
ORPHA:779 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Feeding diff... |
ORPHA:98794 |
Glycogen Storage Disease Xii |
|
Myopathy, Increased variability in muscle fiber diameter, Muscle fiber splitting |
OMIM:611881 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Increased v... |
OMIM:617022 |
Infant Botulism |
|
Anorexia, Abdominal pain, Respiratory insufficiency due to muscle weakness, Dyspnea, Bowel incont... |
ORPHA:178478 |
Poems Syndrome |
|
Pericardial effusion, Respiratory insufficiency due to muscle weakness, Restrictive ventilatory d... |
ORPHA:2905 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Decreased muscle mass, Ataxia, Akinesia, Feeding difficulties in infancy, Phonic t... |
OMIM:234200 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Contractures of the large joints, Poor head control, Nasogastric tube feeding |
ORPHA:329178 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Bifid scrotum, Tachycardia, Unilateral cryptorchidism, Cryptorchidism, Enlarged... |
OMIM:618280 |
Spinocerebellar Ataxia 6 |
|
Nausea and vomiting, Ataxia, Dysmetria, Dysphagia, Progressive cerebellar ataxia, Truncal ataxia,... |
OMIM:183086 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Waddling gait, Skeletal muscle atrophy, Poor head control, Feeding difficulties, Myopathy, Type 1... |
OMIM:614557 |
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline |
|
Progressive cerebellar ataxia, Dysphagia, Bowel incontinence, Prolonged neonatal jaundice |
OMIM:618868 |
Meckel Syndrome 14 |
|
Cyanosis, Abdominal distention, Pneumothorax, Cardiorespiratory arrest, Protuberant abdomen, Sing... |
OMIM:619879 |
Spinocerebellar Ataxia Type 6 |
|
Unsteady gait, Dysphagia, Gait ataxia, Progressive cerebellar ataxia, Choking episodes |
ORPHA:98758 |
Agnathia-Otocephaly Complex |
|
Secundum atrial septal defect, Respiratory distress, Tracheomalacia, Situs inversus totalis |
OMIM:202650 |
Ebstein Malformation Of The Tricuspid Valve |
|
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Right bundle branch block, C... |
ORPHA:1880 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Facial palsy, External ophthalmoplegia, Inability to walk, Chorea, Gait ataxia, Vomiting, Dysphagia |
OMIM:607483 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Macroglossia, Death in early adulthood, Achalasia, Dysphagia |
ORPHA:79107 |
Spinocerebellar Ataxia Type 13 |
|
Torticollis, Impaired distal vibration sensation, Limb ataxia, Gait ataxia, Difficulty walking, D... |
ORPHA:98768 |
Fucosidosis |
|
Decreased muscle mass, Acrocyanosis, Vascular skin abnormality, Cardiomegaly |
ORPHA:349 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Small intestinal dysmotility, Dysphagia, Feeding difficulties, Hypopnea, ... |
OMIM:619482 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Facial Paresis, Hereditary Congenital, 3 |
|
Feeding difficulties, Facial palsy, Dysphagia |
OMIM:614744 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress, Flexion contracture |
OMIM:618201 |
Bilateral Generalized Polymicrogyria |
|
Total ophthalmoplegia, Oral-pharyngeal dysphagia, Feeding difficulties, Self-injurious behavior, ... |
ORPHA:208447 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death |
ORPHA:73224 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Feeding difficulties |
ORPHA:261304 |
Angelman Syndrome |
|
Abnormality of the gastrointestinal tract, Broad-based gait, Hyperactivity, Ataxia, Aggressive be... |
ORPHA:72 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Oliguria, Lymphocytosis, Hypochromic anemia, Anemia |
ORPHA:514 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Congenital diaphragmatic hernia, Feeding difficulties |
OMIM:606164 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Broad-based gait, Ataxia, Facial hypotonia, Feeding difficulties in infancy |
ORPHA:438216 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... |
ORPHA:99125 |
Usher Syndrome |
|
Myopathy, Hypertrophic cardiomyopathy, Ataxia |
ORPHA:886 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Multiple joint contractures, Facial palsy, Inability to walk, Dysphagia |
OMIM:128100 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Myositis, Sinusitis, Pneumonia, Abdominal pain, Myocarditis, Diarrhea, Tach... |
ORPHA:36234 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Portal hypertension, Raynaud phenomenon, Splenomegaly, Vasculitis, Dilated cardiomy... |
OMIM:615688 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Ataxia, Impaired distal vibration sensation, Impaired proprioception, Malnutrition, Dysmetria, Ga... |
ORPHA:99027 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Skeletal muscle atrophy, Ataxia, Choreoathetosis, Type 2 muscle fiber predominance, Gastroesophag... |
OMIM:615471 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Cyanosis, Ventricular septal defect, Aortopulmonary window, Hypoplastic left heart, Transposition... |
ORPHA:99050 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Cardiomyopathy, Vomiting |
OMIM:251000 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Tricuspid regurgitation, Severe short stature, Congenital diaphragmatic hernia, Dilated cardiomyo... |
ORPHA:2556 |
Eisenmenger Syndrome |
|
Ventricular tachycardia, Iron deficiency anemia, Supraventricular tachycardia, Lethargy, Brain ab... |
ORPHA:97214 |
Multiple System Atrophy, Cerebellar Type |
|
Broad-based gait, Neuromuscular dysphagia, Limb ataxia, Gait ataxia, Stridor, Progressive cerebel... |
ORPHA:227510 |
Gaucher Disease, Type Ii |
|
Death in infancy, Apnea, Ophthalmoplegia, Dysphagia, Feeding difficulties, Stridor, Gastroesophag... |
OMIM:230900 |
Fatal Familial Insomnia |
|
Constipation, Ataxia, Apnea, Dysphagia |
OMIM:600072 |
Native American Myopathy |
|
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Congenital contracture, Campt... |
ORPHA:168572 |
Odontochondrodysplasia |
|
Respiratory distress, Death in infancy |
ORPHA:166272 |
Noonan Syndrome With Multiple Lentigines |
|
Bundle branch block, Hypospadias, Myocardial infarction, Cryptorchidism, Abnormal localization of... |
ORPHA:500 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Reye syndrome-l... |
ORPHA:348 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Feeding difficulties, Respiratory failure, Muscle flaccidity |
ORPHA:2707 |
Diaphanospondylodysostosis |
|
Respiratory distress |
ORPHA:66637 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait, Dysphagia, Hypomimic face |
ORPHA:247234 |
Amyotrophic Lateral Sclerosis 23 |
|
Dysphagia |
OMIM:617839 |
17P11.2 Microduplication Syndrome |
|
Gastroesophageal reflux, Attention deficit hyperactivity disorder, Oral-pharyngeal dysphagia |
ORPHA:1713 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis,... |
ORPHA:508 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Skeletal muscle atrophy, Bicuspid aortic valve, Dextrocardia, Poor wound healing, Feeding difficu... |
ORPHA:536545 |
Acquired Generalized Lipodystrophy |
|
Cardiomyopathy, Calf muscle pseudohypertrophy, Myopathy, Progeroid facial appearance |
ORPHA:79086 |
Spinocerebellar Ataxia Type 7 |
|
Restless legs, Somatic sensory dysfunction, Ataxia, Ophthalmoplegia, Dysmetria, Ophthalmoparesis,... |
ORPHA:94147 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Ventricular septal defect, Feeding difficulties in infancy, Esophageal atre... |
OMIM:610536 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Chorea, Gait ataxia, Hypomimic face, Gait disturbance, Dysphagia, Poor suck, Nasogastric tube fee... |
ORPHA:225147 |
Schwartz-Jampel Syndrome |
|
Death in infancy, Hip contracture, Skeletal muscle atrophy, Apnea, Shoulder flexion contracture, ... |
ORPHA:800 |
Dystonia-Deafness Syndrome 1 |
|
Loss of ambulation, Achalasia, Pseudobulbar paralysis, Dysphagia |
OMIM:607371 |
Lymphatic Malformation 7 |
|
Respiratory distress, Pericardial effusion, Abdominal distention, Chylothorax, Atrial septal defe... |
OMIM:617300 |
Tularemia |
|
Respiratory distress, Pleural effusion, Pneumonia, Cough |
ORPHA:3392 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni diaphr... |
OMIM:613309 |
Gmppb-Related Limb-Girdle Muscular Dystrophy R19 |
|
Proximal muscle weakness in upper limbs, Dilatation of the ventricular cavity, Cardiomyopathy, Di... |
ORPHA:363623 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Double outlet left ventricle, Ventricular septal defect, Intestinal malrota... |
ORPHA:2255 |
Immunodeficiency 92 |
|
Hepatomegaly, Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytope... |
OMIM:619652 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect, Respiratory dis... |
ORPHA:2519 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2759 |
Truncus Arteriosus |
|
Cyanosis, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Tachypnea, Ab... |
ORPHA:3384 |
Arnold-Chiari Malformation Type I |
|
Somatic sensory dysfunction, Abnormality of the musculature of the lower limbs, Dysesthesia, Gait... |
ORPHA:268882 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Ataxia, Recurrent pneumonia, Flexion contracture, Feeding difficulties, Cho... |
OMIM:616271 |
Bilateral Perisylvian Polymicrogyria |
|
Apnea, Weakness of facial musculature, Flexion contracture, Dysmetria, Feeding difficulties, Abno... |
ORPHA:98889 |
Myasthenic Syndrome, Congenital, 19 |
|
Increased variability in muscle fiber diameter, Facial palsy |
OMIM:616720 |
Pseudoachondroplasia |
|
Waddling gait, Skeletal myopathy |
ORPHA:750 |
Congenital Enterovirus Infection |
|
Respiratory distress, Pericardial effusion, Myocarditis, Cardiomyopathy, Pleural effusion, Hepati... |
ORPHA:292 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Hip contracture, Cachexia, Elbow flexion contracture, Knee flexion contracture, Severe failure to... |
ORPHA:371364 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... |
OMIM:232300 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Torticollis, Dysphagia |
OMIM:224500 |
Stevens-Johnson Syndrome |
|
Acute hepatic failure, Nausea and vomiting, Gastrointestinal hemorrhage, Abdominal pain, Dyspnea,... |
ORPHA:36426 |
Idiopathic Camptocormia |
|
Myositis, Fatty replacement of skeletal muscle, Abnormal muscle fiber dysferlin, Proximal spinal ... |
ORPHA:1320 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Hip contracture, Apnea, Flexion contracture, Elbow flexion contracture, Respiratory failure, Dysp... |
OMIM:617301 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Impulsivity, Akinesia, Neuromuscular dysphagia, Falls, Gait imbalance, Axial muscle stiffness |
ORPHA:240071 |
Stt3B-Cdg |
|
Respiratory distress, Feeding difficulties |
ORPHA:370924 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Death in infancy, Neonatal respiratory distress, Nasogastric tube feeding in infancy, Dysphagia, ... |
OMIM:618922 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Limb hypertonia, Pneumothorax, Cardiomegaly |
OMIM:620306 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Poor appetite, Abdominal pain, Dyspnea, Diarrhea, Dysphagia, Melena,... |
ORPHA:319218 |
Biotinidase Deficiency |
|
Respiratory distress, Ataxia, Apnea, Limb muscle weakness, Hyperventilation |
ORPHA:79241 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Renal insufficiency, Eosinophilia, Cardiac arrest, Myocarditis, Tubulointerstitial nephritis, Nep... |
ORPHA:139402 |
Dermatomyositis |
|
Pericarditis, Telangiectasia of the skin, Proximal muscle weakness, Feeding difficulties in infan... |
ORPHA:221 |
Mucopolysaccharidosis Type 3 |
|
Cardiomegaly, Flexion contracture, Aspiration pneumonia, Loss of ambulation, Hyperactivity, Ataxi... |
ORPHA:581 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Hyperactivity, Ataxia, Inability to walk, Dysmetria, Hamstring contractures, Gait disturbance, Di... |
ORPHA:139396 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Ataxia, Inability to walk, Congenital laryngeal stridor, Choreoathetosis, Dysph... |
OMIM:312080 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Spontaneous esophageal perforation, Esophageal stricture, Malnutrition, Flexion contracture, Cons... |
OMIM:226600 |
Pulmonary Hypertension, Primary, 1 |
|
Increased pulmonary vascular resistance, Dyspnea, Telangiectasia, Cough, Pulmonary arterial hyper... |
OMIM:178600 |
Wolfram Syndrome 1 |
|
Cardiomyopathy, Ataxia, Dysphagia |
OMIM:222300 |
Mucopolysaccharidosis, Type Iiid |
|
Restlessness, Hyperactivity, Aggressive behavior, Diarrhea, Achilles tendon contracture, Elbow fl... |
OMIM:252940 |
Leopard Syndrome 1 |
|
Bundle branch block, Hypospadias, Unilateral renal agenesis, Cryptorchidism, Micropenis, Hypoplas... |
OMIM:151100 |
Autosomal Recessive Spastic Paraplegia Type 20 |
|
Impaired vibratory sensation, Skeletal muscle atrophy, Upper limb muscle weakness, Distal amyotro... |
ORPHA:101000 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Feeding difficulties, Ventricular septal defect, Dysphagia |
OMIM:618325 |
Stromme Syndrome |
|
Jejunal atresia, Intestinal malrotation, Myopathy, Stillbirth, Duodenal atresia |
OMIM:243605 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent urinary tract infections, Decreased response to growth hormone stimulation test, Crypto... |
OMIM:615873 |
Congenital Myopathy 17 |
|
Diaphragmatic eventration, Distal arthrogryposis, Failure to thrive in infancy, Myopathy |
OMIM:618975 |
Den Hoed-De Boer-Voisin Syndrome |
|
Lactose intolerance, Ventricular septal defect, Ataxia, Inability to walk, Death in adolescence, ... |
OMIM:619229 |
Tarp Syndrome |
|
Broad-based gait, Cyanosis, Apnea, Abnormal duodenum morphology, Atrial septal defect, Tetralogy ... |
ORPHA:2886 |
Spinocerebellar Ataxia 8 |
|
Progressive cerebellar ataxia, Dysphagia |
OMIM:608768 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Myopathy |
ORPHA:169090 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Apnea, Jaundice, Feeding difficulties, Hypopnea, Respiratory failure, Dysphagia... |
OMIM:617248 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Broad-based gait, Tongue thrusting, Feeding difficulties, Gait imbalance, Dysphagia, Poor suck |
ORPHA:98795 |
Ritscher-Schinzel Syndrome 4 |
|
Ataxia, Impulsivity, Aggressive behavior, Chorea, Athetosis, Dysphagia, Abnormal repetitive manne... |
OMIM:619435 |
Nasolacrimal Duct Cyst |
|
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... |
ORPHA:141083 |
Kniest Dysplasia |
|
Respiratory distress, Hip contracture, Gait disturbance, Tracheomalacia |
OMIM:156550 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Neonatal respiratory distress, Ventricular septal defect, Unsteady gait, Dysphagia, Feeding diffi... |
OMIM:214100 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia |
OMIM:614381 |
Septopreoptic Holoprosencephaly |
|
Gastrostomy tube feeding in infancy, Impulsivity, Dysphagia |
ORPHA:280195 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Flexion contracture, Dysphagia |
OMIM:620001 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Ataxia, Bowel incontinence, Dysesthesia, Dysmetria, Gait ataxia, Gait disturbance, Compulsive beh... |
ORPHA:93256 |
Cryptococcosis |
|
Respiratory distress, Pneumonia, Dyspnea, Ophthalmoplegia, Peritonitis, Pleural effusion, Vomitin... |
ORPHA:1546 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Ataxia, Inability to walk, Generalized limb muscle atrophy, Distal amyotrophy, Gait disturbance, ... |
ORPHA:2822 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Restlessness, Pain insensitivity, Facial hypotonia, Oral-pharyngeal dysphag... |
OMIM:615273 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy |
OMIM:616538 |
Nocardiosis |
|
Respiratory distress, Pericarditis, Abnormal heart valve morphology, Pneumonia, Anorexia, Product... |
ORPHA:31204 |
Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Respiratory distress, Neonatal respiratory distress, Steatorrhea, Exocrine p... |
OMIM:260400 |
Dystonia-Aphonia Syndrome |
|
Macroglossia, Unsteady gait, Gait disturbance, Dysphagia |
ORPHA:412217 |
Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Bundle branch block, Hypoplasia of penis, Ureteral duplication, Hypospadia... |
ORPHA:373 |
Mohr-Tranebjaerg Syndrome |
|
Inability to walk, Dysphagia, Shuffling gait, Attention deficit hyperactivity disorder, Aspiratio... |
ORPHA:52368 |
Cocaine Intoxication |
|
Respiratory distress, Abdominal pain, Intestinal perforation, Wheezing, Tachypnea, Pneumothorax, ... |
ORPHA:90068 |
Mgat2-Cdg |
|
Respiratory distress, Ventricular septal defect, Gastroparesis, Abnormal heart morphology, Feedin... |
ORPHA:79329 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Prominent superficial veins, Cor triatriatum, Secundum atrial septal defect, Respiratory insuffic... |
OMIM:612541 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Neonatal respiratory distress, Cardiomyopathy, Abnormal cardiac septum morp... |
OMIM:217980 |
Good Syndrome |
|
Sinusitis, Dyspnea, Diarrhea, Bronchiectasis, Dysphagia, Fatigable weakness, Cough |
ORPHA:169105 |
Progressive Supranuclear Palsy |
|
Impulsivity, Unsteady gait, Falls, Supranuclear ophthalmoplegia, Dysphagia |
ORPHA:683 |
Alexander Disease |
|
Nausea and vomiting, Ataxia, Facial palsy, Bowel incontinence, Chorea, Respiratory insufficiency,... |
ORPHA:58 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Recurrent pneumonia, Poor suck, Feeding difficulties, Patent foramen ovale |
OMIM:607143 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Dysphagia |
OMIM:618958 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis |
ORPHA:86843 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Intestinal pseudo-obstruction, Dysmetria, Dysphagia |
OMIM:619780 |
Mucopolysaccharidosis, Type Iiic |
|
Diarrhea, Hyperactivity, Dysphagia, Asymmetric septal hypertrophy |
OMIM:252930 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Protuberant abdomen |
OMIM:617102 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Myositis, Gastritis, Pneumonia, Malabsorption, Ileus, Secretory diarrhea, U... |
ORPHA:37042 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Skeletal muscle hypertrophy, Macroglossia, Congenital contracture, Muscular dystrophy, Increased ... |
OMIM:613150 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:187300 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Bulbar palsy, Apnea, Respiratory insufficiency, Feeding difficulties, Contractures of the large j... |
OMIM:617527 |
Pitt-Hopkins Syndrome |
|
Ataxia, Aganglionic megacolon, Hiatus hernia, Aggressive behavior, Gait ataxia, Feeding difficult... |
ORPHA:2896 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,... |
OMIM:231005 |
Immunodeficiency 58 |
|
Helicobacter pylori infection, Allergic rhinitis, Asthma, Chronic pulmonary obstruction, Recurren... |
OMIM:618131 |
Myopathy, Mitochondrial, And Ataxia |
|
Increased variability in muscle fiber diameter, Distal amyotrophy |
OMIM:617675 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Death in infancy |
OMIM:184260 |
1P36 Deletion Syndrome |
|
Abnormal heart valve morphology, Camptodactyly of finger, Feeding difficulties in infancy, Pylori... |
ORPHA:1606 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Myeloproliferative disorder... |
ORPHA:79456 |
Chronic Graft Versus Host Disease |
|
Anorexia, Flexion contracture, Xerostomia, Gastroesophageal reflux, Cough, Nausea, Poor wound hea... |
ORPHA:99921 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea, Vomiting |
ORPHA:247257 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Dyspepsia, Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Dyspnea, Dysphagia, Abnorma... |
ORPHA:1018 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Situs inversus totalis, Respiratory distress |
ORPHA:990 |
Hereditary Xanthinuria |
|
Myopathy |
ORPHA:3467 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Arrhythmia, Ventricular bigeminy, Left bundle branch block |
OMIM:610131 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Somatic sensory dysfunction, Ataxia, Choreoathetosis, Gait imbalance, Dysphagia |
ORPHA:64753 |
Heart Block, Congenital |
|
Atrioventricular block, Myocardial fibrosis, Absent atrioventricular node, Myocardial calcificati... |
OMIM:234700 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Ataxia, Acute rhabdomyolysis, Feeding difficulties in infancy, Gastrointestinal dysmotility, Dysp... |
ORPHA:480864 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Stillbirth, Protuberant abdomen |
OMIM:151210 |
Multiple Endocrine Neoplasia, Type Iib |
|
Colonic diverticula, Aganglionic megacolon, Diarrhea, Myopathy, Constipation, Flushing |
OMIM:162300 |
Esophagitis, Eosinophilic, 2 |
|
Vomiting, Esophagitis, Dysphagia |
OMIM:613412 |
Esophagitis, Eosinophilic, 1 |
|
Vomiting, Esophagitis, Dysphagia |
OMIM:610247 |
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis |
OMIM:226100 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
EMG: myopathic abnormalities, Atrioventricular canal defect |
ORPHA:2549 |
Farber Disease |
|
Respiratory distress, Skeletal muscle atrophy, Chronic diarrhea, Flexion contracture, Respiratory... |
ORPHA:333 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Oral-pharyngeal dysphagia |
ORPHA:480907 |
Parkinson Disease 20, Early-Onset |
|
Dysphagia, Gait disturbance, Shuffling gait, Leg muscle stiffness, Short stepped shuffling gait |
OMIM:615530 |
Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Dysphagia |
OMIM:617008 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Ataxia, Interstitial emphysema, Bronchiectasis, Dysmetria, Knee flexion contracture, Inflammation... |
OMIM:619708 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Feeding difficulties in infancy, Generalized muscle weakness, Athetosis, Proximal muscle weakness... |
ORPHA:280633 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Feeding difficulties in infancy, Flexion contracture, Agitation, Dysphagia, Aspiration |
ORPHA:2148 |
Lipodystrophy, Familial Partial, Type 7 |
|
Reduced subcutaneous adipose tissue, Decreased adipose tissue around neck, Cutis marmorata, Lack ... |
OMIM:606721 |
X-Linked Dystonia-Parkinsonism |
|
Chorea, Shuffling gait, Difficulty walking, Aspiration pneumonia, Impaired oropharyngeal swallow ... |
ORPHA:53351 |
Tick-Borne Encephalitis |
|
Skeletal muscle atrophy, Somatic sensory dysfunction, Facial palsy, Anorexia, Ophthalmoplegia, Vo... |
ORPHA:297 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Petechiae, Pneumonia, Epistaxis, Abdominal pain, Hematemesis, Dyspnea, Diar... |
ORPHA:340 |
Chitayat Syndrome |
|
Respiratory distress, Tracheomalacia |
OMIM:617180 |
Sanjad-Sakati Syndrome |
|
Myopathy, Intestinal obstruction |
ORPHA:2323 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Feeding difficulties in infancy, Nasogastric tube feeding in infancy, Abnor... |
ORPHA:177907 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Ventricular septal defect, Intestinal malrot... |
OMIM:616268 |
Wolcott-Rallison Syndrome |
|
Hepatomegaly, Renal insufficiency, Chronic kidney disease, Iron deficiency anemia, Lymphocytosis,... |
ORPHA:1667 |
Spinocerebellar Ataxia Type 42 |
|
Unsteady gait, Gait ataxia, Dysphagia, Spastic gait, Impaired vibration sensation at ankles |
ORPHA:458803 |
Glycerol Kinase Deficiency |
|
Myopathy, Small for gestational age, Muscular dystrophy |
OMIM:307030 |
Ramos-Arroyo Syndrome |
|
Respiratory distress, Aganglionic megacolon, Feeding difficulties in infancy, Xerostomia, Chronic... |
ORPHA:1051 |
Hereditary Late-Onset Parkinson Disease |
|
Akinesia, Impulsivity, Chronic constipation, Agitation, Shuffling gait, Dysphagia, Hypomimic face |
ORPHA:411602 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Dysphagia, Feeding difficulties, Death in childhood, Respiratory failure, Tube feeding |
OMIM:619847 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypoventilation, Cyanosis, Central hypoventilation, Impaired pain sensation, Aggressive behavior,... |
ORPHA:293987 |
Igg4-Related Pachymeningitis |
|
Somatic sensory dysfunction, Sinusitis, Dyspnea, Dysphagia, Lower limb muscle weakness, Parotitis |
ORPHA:449427 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Hypospadias, Nephroblastoma, Supernumerary nipple, Splenomegaly, Cryptorchidism, Re... |
OMIM:312870 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Asthma, Esophageal stricture, Dysphagia |
OMIM:616029 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Decreased muscle mass, Gastroesophageal reflux, Hepatic hemangioma, Dysphagia, Recurrent aspirati... |
ORPHA:73230 |
Colchicine Poisoning |
|
Respiratory distress, Myocarditis, Diarrhea, Cardiorespiratory arrest, Vomiting, Nausea |
ORPHA:31824 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Gait disturbance, Dysphagia |
ORPHA:136 |
Semilobar Holoprosencephaly |
|
Central apnea, Inability to walk, Flexion contracture, Dysphagia, Abnormal heart morphology, Feed... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Central apnea, Inability to walk, Flexion contracture, Dysphagia, Abnormal heart morphology, Feed... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Inability to walk, Flexion contracture, Dysphagia, Abnormal heart morphology, Feed... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Central apnea, Inability to walk, Flexion contracture, Dysphagia, Abnormal heart morphology, Feed... |
ORPHA:93924 |
Kagami-Ogata Syndrome |
|
Respiratory failure requiring assisted ventilation, Poor head control, Diastasis recti, Feeding d... |
ORPHA:254519 |
Moebius Syndrome |
|
Death in infancy, Skeletal muscle atrophy, Facial palsy, Feeding difficulties in infancy, Ophthal... |
ORPHA:570 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Pain insensitivity, Broad-based gait, Ataxia, Poor head control, Dysmetria, Gait ataxia, Dysphagi... |
OMIM:617330 |
Stuve-Wiedemann Syndrome 1 |
|
Death in infancy, Apnea, Impaired pain sensation, Elbow flexion contracture, Respiratory insuffic... |
OMIM:601559 |
Cleft Velum |
|
Nasal regurgitation, Poor suck, Aspiration pneumonia, Oral-pharyngeal dysphagia |
ORPHA:99772 |
Primary Progressive Freezing Gait |
|
Restless legs, Dysphagia, Shuffling gait, Gait imbalance, Difficulty walking |
ORPHA:75567 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ... |
OMIM:607872 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Feeding difficulties in infancy, Diarrhea, Decreased sensitivity to hypoxemia, Vomiting, Gastroes... |
OMIM:223900 |
Alzheimer Disease 3 |
|
Gait disturbance, Dysphagia, Optic ataxia |
OMIM:607822 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Impulsivity, Chorea, Dysmetria, Gait ataxia, Feeding difficulties, Dysdiadochokine... |
OMIM:610217 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
External ophthalmoplegia, Feeding difficulties, Dysphagia, Muscle weakness, Nasogastric tube feeding |
ORPHA:485421 |
Niemann-Pick Disease, Type C1 |
|
Fatal liver failure in infancy, Ataxia, Gait ataxia, Prolonged neonatal jaundice, Dysphagia |
OMIM:257220 |
Acquired Purpura Fulminans |
|
Hepatic failure, Acrocyanosis, Macular purpura |
ORPHA:49566 |
Leptospirosis |
|
Respiratory distress, Nausea and vomiting, Pericarditis, Anorexia, Abdominal pain, Jaundice, Diar... |
ORPHA:509 |
Lesch-Nyhan Syndrome |
|
Poor head control, Choreoathetosis, Self-injurious behavior, Vomiting, Dysphagia |
OMIM:300322 |
Gastrointestinal Stromal Tumor |
|
Intestinal obstruction, Gastrointestinal stroma tumor, Urticaria, Constipation, Dysphagia |
OMIM:606764 |
Adnp Syndrome |
|
Respiratory distress, Oral-pharyngeal dysphagia, Aggressive behavior, Chronic constipation, Gastr... |
ORPHA:404448 |
Plaa-Associated Neurodevelopmental Disorder |
|
Bulbar palsy, Apnea, Respiratory insufficiency, Feeding difficulties, Contractures of the large j... |
ORPHA:521426 |
Neuroferritinopathy |
|
Hypomimic face, Chorea, Difficulty walking, Dysphagia |
ORPHA:157846 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pneumonia, Dyspnea, Esophageal stricture, Dilated cardiomyopathy, Pneumotho... |
ORPHA:79404 |
Gitelman Syndrome |
|
Respiratory distress, Nausea and vomiting, Salt craving, Abdominal pain, Pericardial effusion, Di... |
ORPHA:358 |
Gastrointestinal Stromal Tumor |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach... |
ORPHA:44890 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Flexion contracture, Stridor, Constipation, Gastroesophageal reflux, Attention deficit hyperactiv... |
OMIM:620029 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Torticollis, Multiple joint contractures, Repeated pneumothoraces, Respirat... |
ORPHA:536467 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Neonatal respiratory distress, Somatic sensory dysfunction, Ataxia, Esophageal stenosis, Feeding ... |
OMIM:615510 |
Plague |
|
Respiratory distress, Anorexia, Abdominal pain, Hematemesis, Diarrhea, Unsteady gait, Enterocolit... |
ORPHA:707 |
Esophageal Ring, Lower |
|
Dysphagia, Hiatus hernia |
OMIM:133240 |
Alpha-Mannosidosis, Infantile Form |
|
Facial hypotonia, Ataxia, Pneumonia, Macroglossia, Myopathy, Recurrent gastroenteritis |
ORPHA:309282 |
Autoimmune Lymphoproliferative Syndrome |
|
Reticulocytosis, Autoimmune hemolytic anemia, Hepatomegaly, Renal insufficiency, Eosinophilia, Gl... |
ORPHA:3261 |
Opitz Gbbb Syndrome |
|
Ventricular septal defect, Rectourethral fistula, Gastroesophageal reflux, Dysphagia, Aspiration |
OMIM:300000 |
Primary Lateral Sclerosis |
|
Somatic sensory dysfunction, Spastic gait, Dysphagia |
ORPHA:35689 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Foot joint contracture, Dilated cardiomyopathy, Flexion contracture, Growth delay, Delayed puberty |
ORPHA:79408 |
Microform Holoprosencephaly |
|
EMG: myopathic abnormalities, Asthma, Tetralogy of Fallot, Duodenal atresia |
ORPHA:280200 |
Hutchinson-Gilford Progeria Syndrome |
|
Ventricular hypertrophy, Prominent superficial blood vessels, Cyanosis, Mitral stenosis, Mitral v... |
ORPHA:740 |
Gaucher Disease |
|
Death in infancy, Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardi... |
ORPHA:355 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Aggressive behavior, Inability to walk, Asthma, Phonic tics, Feeding difficulties, Stridor, Atten... |
OMIM:616973 |
Rodrigues Blindness |
|
Ectodermal dysplasia, Nasal flaring |
OMIM:268320 |
Opitz Gbbb Syndrome |
|
Ventricular septal defect, Tracheomalacia, Congenital diaphragmatic hernia, Feeding difficulties ... |
ORPHA:2745 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... |
OMIM:600376 |
Familial Dysautonomia |
|
Ataxia, Impaired pain sensation, Feeding difficulties in infancy, Gait disturbance, Gastroesophag... |
ORPHA:1764 |
Developmental And Epileptic Encephalopathy 100 |
|
Chorea, Bilateral camptodactyly, Elbow flexion contracture, Gait ataxia, Choreoathetosis, Chronic... |
OMIM:619777 |
Williams Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Rectal prolapse, Dysmetria, Gastroesophageal reflux, Compuls... |
ORPHA:904 |
Niemann-Pick Disease Type C |
|
Ataxia, Aggressive behavior, Jaundice, Chorea, Aplasia/Hypoplasia of the abdominal wall musculatu... |
ORPHA:646 |
Marbach-Rustad Progeroid Syndrome |
|
Right bundle branch block, Pulmonary insufficiency |
OMIM:619322 |
Primary Hyperoxaluria |
|
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Heart block, Raynaud phenomenon, Arteri... |
ORPHA:416 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Atrial septal defect, Respiratory distress, Feeding difficulties |
OMIM:300968 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Calcinosis, Poor head control, Inability to walk, Feeding difficulties, Gastroesophageal reflux, ... |
OMIM:617913 |
2P15P16.1 Microdeletion Syndrome |
|
Facial palsy, Camptodactyly of finger, Feeding difficulties, Gait disturbance, Attention deficit ... |
ORPHA:261349 |
Parkinsonian-Pyramidal Syndrome |
|
Hypomimic face, Shuffling gait, Dysphagia |
ORPHA:171695 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Apnea, Flexion contracture, Facial erythema, Knee flexion contracture, Aspiration, Diaphragmatic ... |
OMIM:619503 |
Hyperlysinemia |
|
Hyperactivity, Recurrent pneumonia, Dysmetria, Feeding difficulties, Tip-toe gait, Gastroesophage... |
ORPHA:2203 |
Sick Sinus Syndrome 2 |
|
Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse |
OMIM:163800 |
Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Pyloric stenosis, Recurrent pneumonia, Death in childhood, Chronic lung dis... |
OMIM:613848 |
Postinfectious Vasculitis |
|
Palpable purpura, Cutis marmorata, Pneumonia, Anorexia, Abdominal pain, Gastrointestinal inflamma... |
ORPHA:48435 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Death in infancy, Bicuspid aortic valve, Mitral atresia, Ataxia, Tachypnea, Aortic valve atresia,... |
OMIM:220111 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Atrial septal defect, Tracheobronchomalacia, Patent foramen ovale, Oral-pharyngeal dysphagia |
OMIM:619184 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive beha... |
ORPHA:805 |
Parkinson Disease 1, Autosomal Dominant |
|
Loss of ambulation, Gait disturbance, Shuffling gait, Dysphagia |
OMIM:168601 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Loss of ambulation, Progressive gait ataxia, Falls, Dysphagia |
ORPHA:329308 |
Achondroplasia |
|
Respiratory distress, Death in infancy, Upper airway obstruction, Feeding difficulties |
OMIM:100800 |
Plummer-Vinson Syndrome |
|
Poor appetite, Geophagia, Abdominal pain, Esophageal web, Dysphagia |
ORPHA:54028 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Right bundle branch block |
OMIM:618590 |
Spondyloepiphyseal Dysplasia Congenita |
|
Waddling gait, Restrictive ventilatory defect, Respiratory distress |
OMIM:183900 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Death in infancy, Feeding difficulties in infancy, Flexion contracture, Gas... |
OMIM:224690 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Jaundice, Prolonged neonatal jaundice |
OMIM:274150 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Epistaxis, Inability to walk, Asthma, Telangiectasia, Constipation, Esophagitis, Dysphagia |
ORPHA:495818 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Dysphagia |
OMIM:612379 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Apnea, Camptodactyly of finger, Impaired pain sensation, Feeding difficulti... |
ORPHA:3206 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Aggressive behavior, Asthma, Gastrointestinal dysmotility, Nasal flaring, Feeding difficulties, S... |
ORPHA:466943 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di... |
OMIM:155310 |
Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion |
ORPHA:3015 |
Neuroleptic Malignant Syndrome |
|
Pulmonary embolism, Chorea, Rhabdomyolysis, Vomiting, Agitation, Aspiration pneumonia, Dysphagia,... |
ORPHA:94093 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Death in infancy, Abdominal distention, Jaundice, Hepatic failure |
OMIM:617156 |
Full Nf2-Related Schwannomatosis |
|
Somatic sensory dysfunction, Facial palsy, Unsteady gait, Wrist drop, Hyperesthesia, Dysphagia, F... |
ORPHA:637 |
Generalized Eruptive Keratoacanthoma |
|
Dysphagia |
ORPHA:411777 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Tricuspid regurgitation, Cryptorchidism, Right bundle branch block, Mitral regurgitation, Pulmoni... |
OMIM:617506 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypoventilation, Broad-based gait, Bicuspid aortic valve, Ventricular septal defect, Apnea, Breat... |
ORPHA:438213 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Ataxia, Chorea, Feeding difficulties, Athetosis, Dysphagia |
ORPHA:25 |
Maffucci Syndrome |
|
Dysphagia |
ORPHA:163634 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Hyperactivity, Ventricular septal defect, Impulsivity, Feeding difficulties... |
OMIM:180849 |
Nestor-Guillermo Progeria Syndrome |
|
Right bundle branch block, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, S... |
OMIM:614008 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress, Feeding difficulties in infancy, Vomiting |
OMIM:251110 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Abnormal repetitive mannerisms, Dysphagia |
ORPHA:572013 |
Deeah Syndrome |
|
Death in infancy, Neonatal respiratory distress, Impaired pain sensation, Malabsorption, Chronic ... |
OMIM:619004 |
Wilson Disease |
|
Acute hepatic failure, Hypoesthesia, Jaundice, Abdominal distention, Esophageal varix, Dysphagia,... |
OMIM:277900 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Abdominal pain, Abdominal distention, Hypopnea, Hepatic hemangioma, Petechi... |
ORPHA:2330 |
Classical Ehlers-Danlos Syndrome |
|
Prematurely aged appearance, Poor wound healing, Nausea, Hiatus hernia, Rectal prolapse, Mitral v... |
ORPHA:287 |
Kufor-Rakeb Syndrome |
|
Bowel incontinence, Generalized muscle weakness, Leg muscle stiffness, Gait disturbance, Difficul... |
ORPHA:306674 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Broad-based gait, Ventricular septal defect, Abnormal pulmonary valve morphology, Ataxia, Aggress... |
ORPHA:268261 |
8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Gastrointestinal hemorrhage, Hyperactivity, Ventricular septal defect, Feed... |
ORPHA:508488 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly |
ORPHA:79280 |
Gm1-Gangliosidosis, Type Ii |
|
Ataxia, Gait disturbance, Dysphagia |
OMIM:230600 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Respiratory distress, Cyanosis, Cardiomegaly, Pericardial effusion, Myoc... |
ORPHA:51608 |
Johanson-Blizzard Syndrome |
|
Hepatomegaly, Short stature, Ventricular septal defect, Portal hypertension, Situs inversus total... |
OMIM:243800 |
Developmental And Epileptic Encephalopathy 50 |
|
Diarrhea, Broad-based gait, Dysphagia, Death in childhood |
OMIM:616457 |
Joubert Syndrome 21 |
|
Ataxia, Apnea, Dyspnea, Respiratory failure, Dysphagia, Chronic sinusitis |
OMIM:615636 |
Trisomy 10P |
|
Decreased muscle mass, Abnormal heart morphology, Rectovaginal fistula, Gastroesophageal reflux, ... |
ORPHA:171929 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Intestinal malrotation, Tracheomalacia |
ORPHA:93259 |
Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Cutis marmorata, Cardiomegaly, Difficulty walking, Prolong... |
ORPHA:51 |
Trichinellosis |
|
Facial palsy, Ophthalmoplegia, Dysphagia, Nausea, Muscle weakness |
ORPHA:863 |
Neuhauser Syndrome |
|
Ataxia, Dysphagia |
OMIM:249310 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Poor head control, Facial hypotonia, Limb joint contracture, Inability to walk, Chorea, Achilles ... |
ORPHA:404454 |
Pachyonychia Congenita |
|
Respiratory distress, Feeding difficulties |
ORPHA:2309 |
Cystinosis, Nephropathic |
|
Skeletal muscle atrophy, Oral-pharyngeal dysphagia, Myopathy, Dysphagia, Polydipsia, Exocrine pan... |
OMIM:219800 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Aggressive behavior, Asthma, Self-injurious behavior, Gastroesophageal reflux, Constipation, Atte... |
ORPHA:466950 |
Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress |
ORPHA:50810 |
Parkinson Disease, Late-Onset |
|
Constipation, Short stepped shuffling gait, Dysphagia |
OMIM:168600 |
Pearson Syndrome |
|
Ataxia, Ophthalmoplegia, Chronic diarrhea, Hepatic failure, Steatorrhea, Abnormal heart morpholog... |
ORPHA:699 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Gastrostomy tube feeding in infancy, Gastroesophageal reflux, Dysphagia |
ORPHA:500144 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Intestinal malrotation, Tracheomalacia |
ORPHA:93260 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Stomatitis |
OMIM:612852 |
Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Feeding difficulties in infancy, Vomiting |
OMIM:251100 |
Campomelic Dysplasia |
|
Respiratory distress, Neonatal respiratory distress, Apnea, Contracture of the distal interphalan... |
OMIM:114290 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Palmoplantar cutis laxa, Feeding difficulties in infancy, Respiratory distress |
OMIM:123790 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Achalasia, Dysphagia, Aggressive behavior |
ORPHA:289483 |
Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... |
ORPHA:97286 |
Auriculocondylar Syndrome |
|
Respiratory distress, Feeding difficulties |
ORPHA:137888 |
Congenital Disorder Of Deglycosylation 2 |
|
Macroglossia, Dysphagia |
OMIM:619775 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Bilateral cryptorchidism, Congestive heart failure, Micropenis, Right bundle branch block, Hypert... |
OMIM:617403 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Aganglionic megacolon, Recurrent pneumonia, Abnormal heart morphology, Macr... |
ORPHA:798 |
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration |
|
Dysphagia |
OMIM:607236 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Feeding difficulties, Dysphagia |
OMIM:617669 |
Glossopharyngeal Neuralgia |
|
Oral-pharyngeal dysphagia, Dysesthesia, Odynophagia, Malnutrition, Feeding difficulties |
ORPHA:221098 |
Degcags Syndrome |
|
Oral-pharyngeal dysphagia, Premature graying of hair, Gastroesophageal reflux, Atrial septal defe... |
OMIM:619488 |
Lipoid Proteinosis |
|
Dysphagia |
ORPHA:530 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Pleural effusion, Unsteady gait, Dysphagia, Gait ataxia |
OMIM:254900 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Perianal abscess, Iron deficiency anemia, Lymphocytosis, Anoperineal fistula, Thrombocytosis, Red... |
OMIM:301074 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Vasculitis, Decreased mean platelet volume, Hematochezia, Subconjunctival hemorrhage, Lymphocytos... |
OMIM:617718 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Achalasia, Dysphagia |
OMIM:300858 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress |
ORPHA:1555 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Dyspnea, Constipation, Vomiting, Dysphagia |
OMIM:308940 |
Coccidioidomycosis |
|
Respiratory distress, Pericarditis, Pneumonia, Peritonitis, Pleural empyema, Cough, Exudative ple... |
ORPHA:228123 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Ataxia, Splenomegaly, Myocarditis, Vasculitis, Anemia, Leukopenia, Enlargement of p... |
ORPHA:50918 |
Cleft Lip/Palate |
|
Feeding difficulties in infancy, Malnutrition, Poor suck, Oral-pharyngeal dysphagia |
ORPHA:199306 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Aortic regurgitation, Tricuspid regurgitation, Bilateral cryptorchidism, Right bundle branch bloc... |
OMIM:617402 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta... |
OMIM:610655 |
Medullary Thyroid Carcinoma |
|
Diarrhea, Dysphagia |
ORPHA:1332 |
Hypermobile Ehlers-Danlos Syndrome |
|
Nausea and vomiting, Apnea, Malabsorption, Gastrointestinal dysmotility, Anorectal anomaly, Aplas... |
ORPHA:285 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Nail-biting, Pain insensitivity, Somatic sensory dysfunction, Hyperactivity, Impulsivity, Impaire... |
ORPHA:642 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Anorexia, Or... |
ORPHA:95455 |
Alport Syndrome |
|
Cough, Dyspnea, Stridor, Vomiting, Dysphagia |
ORPHA:63 |
Khan-Khan-Katsanis Syndrome |
|
Joint contracture, Feeding difficulties, Patent foramen ovale, Dysphagia |
OMIM:618460 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Multiple joint contractures, Hair-pulling, Gastroesophageal reflux, Dysphagia, Abn... |
ORPHA:447997 |
Caribbean Parkinsonism |
|
EMG: myopathic abnormalities, Progressive gait ataxia |
ORPHA:97355 |
Supranuclear Palsy, Progressive, 2 |
|
Akinesia, Falls, Gait imbalance, Retrocollis, Dysphagia |
OMIM:609454 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Ataxia, Oral-pharyngeal dysphagia, Gastroesophageal reflux, Gait imbalance, Gait disturbance, Con... |
OMIM:300966 |
Osteogenesis Imperfecta |
|
Abnormal endocardium morphology, Somatic sensory dysfunction, Neonatal respiratory distress, Atax... |
ORPHA:666 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Rhinitis, Constipation, Hypohidrotic ectodermal dysplasia, Periorbital wrin... |
OMIM:305100 |
Goodpasture Syndrome |
|
Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional ... |
OMIM:233450 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Camptodactyly of finger, Dyspnea, Feeding difficulties, Respiratory failure |
ORPHA:2554 |
Kindler Epidermolysis Bullosa |
|
Camptodactyly of finger, Esophageal stricture, Erythema, Flexion contracture, Inflammation of the... |
ORPHA:2908 |
Birk-Barel Syndrome |
|
Reduced subcutaneous adipose tissue, Feeding difficulties in infancy, Dysphagia |
OMIM:612292 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Spastic ataxia, Chronic diarrhea, Feeding difficulties, Dysphagia |
OMIM:620358 |
Gabriele-De Vries Syndrome |
|
Waddling gait, Distal lower limb amyotrophy, Facial hypotonia, Oral-pharyngeal dysphagia, Feeding... |
ORPHA:506358 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Attention deficit hyperactivity disorder, Dysphagia, Pulmonary embolism |
ORPHA:3205 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Prominent scalp veins, Prematurely aged appearance, Pneumoni... |
OMIM:264090 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Flexion contracture, Gait disturbance, Myopathy |
ORPHA:3042 |
Sarcoidosis |
|
Heart block, Increased T cell count, Ventricular tachycardia, Nephrocalcinosis, Leukopenia, Tubul... |
ORPHA:797 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Pyloric stenosis, Contracture of the distal interphalangeal joint of the fi... |
ORPHA:83617 |
Supranuclear Palsy, Progressive, 1 |
|
Akinesia, Falls, Gait imbalance, Retrocollis, Dysphagia |
OMIM:601104 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nausea and vomiting, Peptic ulcer, Episodic abdominal pain, Constipation, Dysphagia, Polydipsia, ... |
ORPHA:99880 |
Wiedemann-Steiner Syndrome |
|
Hyperactivity, Aggressive behavior, Feeding difficulties, Gastroesophageal reflux, Dysphagia, Abn... |
ORPHA:319182 |
Parathyroid Carcinoma |
|
Nausea and vomiting, Peptic ulcer, Episodic abdominal pain, Constipation, Dysphagia, Polydipsia, ... |
ORPHA:143 |
Osteoglophonic Dysplasia |
|
Respiratory distress, Camptodactyly of finger |
OMIM:166250 |
Gamma-Heavy Chain Disease |
|
Dysphagia |
ORPHA:100026 |
Kindler Syndrome |
|
Esophageal stenosis, Telangiectasia of the skin, Dysphagia, Cutaneous photosensitivity, Fragile skin |
OMIM:173650 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Waddling gait, Multiple joint contractures, Secundum atrial septal defect, ... |
ORPHA:99646 |
Occipital Horn Syndrome |
|
Gastroparesis, Hiatus hernia, Jaundice, Gastroesophageal reflux, Esophagitis, Dysphagia, Bruising... |
ORPHA:198 |
Dyskeratosis Congenita, Digenic |
|
Gastroesophageal reflux, Dysphagia |
OMIM:620040 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Atrioventricular canal defect |
OMIM:617088 |
Doors Syndrome |
|
Respiratory distress, Feeding difficulties, Gastroesophageal reflux, Aspiration pneumonia, Double... |
ORPHA:79500 |
Adult-Onset Dystonia-Parkinsonism |
|
Hypomimic face, Dysphagia |
ORPHA:199351 |
Charge Syndrome |
|
Overriding aorta, Ventricular septal defect, Facial palsy, Secundum atrial septal defect, Esophag... |
OMIM:214800 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Gastroparesis, Feeding difficulties in infancy, Gastrointestinal dysmotility, Chronic diarrhea, A... |
ORPHA:500150 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Erythema, Respiratory acidosis, Fragile skin |
OMIM:614748 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Feeding difficulties, Cardiomyopathy, Difficulty walking, Atrial septal defect |
ORPHA:480880 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:119600 |
Mowat-Wilson Syndrome |
|
Bicuspid aortic valve, Gastrointestinal dysmotility, Flexion contracture, Vomiting, Abnormal repe... |
ORPHA:2152 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Esophageal spasms, Pulmonary embolism, Dyspnea, Jaundice, Odynophagia, Episodic abdominal pain, D... |
ORPHA:447 |
Alström Syndrome |
|
Hepatomegaly, Short stature, Portal hypertension, Congestive heart failure, Splenomegaly, Dilated... |
ORPHA:64 |
Liver Disease, Severe Congenital |
|
Hepatomegaly, Recurrent urinary tract infections, Hypospadias, Cardiomegaly, Biliary hyperplasia,... |
OMIM:619991 |
Hyperoxaluria, Primary, Type I |
|
Acrocyanosis, Cutis marmorata |
OMIM:259900 |
Isolated Arrhinia |
|
Respiratory distress |
ORPHA:1134 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Broad-based gait, Bicuspid aortic valve, Abnormal pulmonary valve morphology, Aganglionic megacol... |
ORPHA:261537 |
Genitopatellar Syndrome |
|
Hip contracture, Ventricular septal defect, Malrotation of small bowel, Feeding difficulties, Kne... |
OMIM:606170 |
Igg4-Related Thyroid Disease |
|
Dysphagia |
ORPHA:64744 |
Faundes-Banka Syndrome |
|
Feeding difficulties in infancy, Chronic constipation, Gastroesophageal reflux, Dysphagia, Flexio... |
OMIM:619376 |
Multiple Osteochondromas |
|
Somatic sensory dysfunction, Intestinal obstruction, Pneumothorax, Dysphagia, Hemothorax |
ORPHA:321 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Broad-based gait, Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morp... |
ORPHA:261552 |
Proteus Syndrome |
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Decreased muscle mass, Pulmonary embolism, Abnormal subcutaneous fat tissue distribution, Myofibr... |
ORPHA:744 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Ventricular septal defect, Feeding difficulties, Attention deficit hyperactivity disorder, Dyspha... |
OMIM:619522 |
Homozygous Familial Hypercholesterolemia |
|
Abnormal tendon morphology, Dyspnea, Tendon xanthomatosis, Myocardial steatosis |
ORPHA:391665 |
Pmm2-Cdg |
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Respiratory distress, Pericarditis, Multiple joint contractures, Ataxia, Pericardial effusion, Ab... |
ORPHA:79318 |
Coffin-Lowry Syndrome |
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Rectal prolapse, Acrocyanosis, Cutis marmorata |
OMIM:303600 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Feeding difficulties, Dysphagia |
OMIM:618367 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Respiratory failure, Pneumothorax |
ORPHA:3404 |
Lacrimoauriculodentodigital Syndrome |
|
Xerostomia, Dysphagia |
ORPHA:2363 |