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Gene: Nrg1 MGI:96083

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
neuregulin 1
Synonyms:
GGFII,  ARIA,  heregulin,  NDF,  D230005F13Rik,  Hgl,  HRG,  HGL,  6030402G23Rik,  SMDF,  HRGalpha,  GGF

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Nrg1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Nrg1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Guillain-Barre Syndrome, Familial
Acute demyelinating polyneuropathy OMIM:139393
Adie Pupil
Tonic pupil OMIM:103100
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Pupillary Membrane, Persistence Of
Megalocornea, Persistent pupillary membrane, Developmental cataract OMIM:178900
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Exfoliation Syndrome
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... OMIM:177650
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Spinal Muscular Atrophy, Type Iv
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Spina... OMIM:271150
Facial Spasm
Anisocoria OMIM:134300
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Pelizaeus-Merzbacher disease
Leukodystrophy, Abnormal CNS myelination DECIPHER:38
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Prolonged miniature endplate currents, Decreased miniature endplate potentials OMIM:616321
Intellectual Developmental Disorder, Autosomal Recessive 4
Delayed myelination OMIM:611107
Anterior Segment Dysgenesis 8
Iris transillumination defect, Persistent pupillary membrane, Hypoplasia of the iris, Uveal ectro... OMIM:617319
Myasthenic Syndrome, Congenital, 15
Fatigable weakness OMIM:616227
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, EMG: myo... OMIM:601419
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Lower limb muscle weakness, Tremor, Abnormality of the seventh cranial nerv... ORPHA:90117
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... OMIM:254110
Anterior Segment Dysgenesis 3
Rieger anomaly, Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Peters anomaly,... OMIM:601631
His Bundle Tachycardia
Neoplasm of the heart, Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia ORPHA:3283
Amyotrophic Lateral Sclerosis 21
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Aspir... OMIM:606070
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Respiratory insufficiency, Increased variability in muscle fiber diameter, Fatty replacement of s... ORPHA:266
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia OMIM:614896
Atrial Standstill
Flexion contracture, Ischemic stroke, Left ventricular noncompaction, Palpitations, Abnormal P wa... ORPHA:1344
Myasthenic Syndrome, Congenital, 13
Fatigable weakness OMIM:614750
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral axonal neuropathy, Ca... OMIM:610100
Congenital Arthrogryposis With Anterior Horn Cell Disease
Paucity of anterior horn motor neurons, Facial diplegia, Dystonia, Skeletal muscle atrophy, Perip... OMIM:611890
Nemaline Myopathy 8
Flexion contracture, Death in infancy, Nemaline bodies, Respiratory failure, Myofibrillar myopath... OMIM:615348
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Iris coloboma, Chorioretinal coloboma OMIM:616428
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
Myopathy, Centronuclear, 1
Flexion contracture, Centrally nucleated skeletal muscle fibers, Facial palsy, EMG: myopathic abn... OMIM:160150
Muscular Dystrophy, Congenital, 1B
Congenital muscular dystrophy, Achilles tendon contracture, Generalized muscle hypertrophy, Pecto... OMIM:604801
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Cardiac Conduction Defect
Syncope, Arrhythmia OMIM:115080
Myopathy, Scapulohumeroperoneal
Increased variability in muscle fiber diameter, Wrist drop, Centrally nucleated skeletal muscle f... OMIM:616852
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula... OMIM:616249
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... OMIM:617280
Myasthenic Syndrome, Congenital, 18
Fatigable weakness OMIM:616330
Uveal Melanoma
Iris melanoma, Zonular cataract, Mydriasis, Ciliary body melanoma, Inferior lens subluxation ORPHA:39044
Tibial Muscular Dystrophy
Increased variability in muscle fiber diameter, Weakness of long finger extensor muscles, Peronea... ORPHA:609
Glossopharyngeal Neuralgia
Abnormal glossopharyngeal nerve morphology, Cranial nerve compression, Syncope, Schwannoma, Jaw c... ORPHA:221098
Charcot-Marie-Tooth Disease, Type 4J
Onion bulb formation, Axonal loss, Decreased motor nerve conduction velocity, Peripheral hypomyel... OMIM:611228
Myopathy, Distal, 7, Adult-Onset, X-Linked
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Centrally n... OMIM:301075
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Centrally nucleated skeletal muscle fibers, Autophagic vacuoles, Muscular dystrophy, Shoulder gir... OMIM:608423
Neuronopathy, Distal Hereditary Motor, Type Viib
Lower limb muscle weakness, Hand muscle atrophy, Weakness of facial musculature, Abnormal lower m... OMIM:607641
Marcus-Gunn Syndrome
Abnormal heart morphology, Abnormal fifth cranial nerve morphology ORPHA:91412
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Muscle fiber splitting, Increased variability in muscle fiber diameter, Centrally nucleated skele... OMIM:617760
Congenital Myopathy 10A, Severe Variant
Camptodactyly of finger, Increased variability in muscle fiber diameter, Respiratory insufficienc... OMIM:614399
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, Weakness of long finger extensor muscles, Exertional dyspnea, Abnormality of masticator... ORPHA:98913
Myopathy, Distal, With Rimmed Vacuoles
Increased variability in muscle fiber diameter, Z-band streaming, Internally nucleated skeletal m... OMIM:617158
Congenital Myopathy 4A, Autosomal Dominant
Respiratory insufficiency, Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively s... OMIM:255310
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Optic atrophy, Supraventricular arrhythmia, Peripheral axonal neuropathy, Distal lower limb muscl... ORPHA:320360
Proximal Myopathy With Extrapyramidal Signs
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Optic... ORPHA:401768
Inclusion Body Myopathy And Brain White Matter Abnormalities
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Centrally n... OMIM:619733
Myasthenic Syndrome, Congenital, 6, Presynaptic
Fatigable weakness, Generalized hypotonia due to defect at the neuromuscular junction, Decreased ... OMIM:254210
Congenital Myopathy 14
Knee flexion contracture, Increased variability in muscle fiber diameter, Flexion contracture, Hi... OMIM:618414
Ectopia Lentis Et Pupillae
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Congenital Myopathy 1B, Autosomal Recessive
Respiratory insufficiency, Increased variability in muscle fiber diameter, Centrally nucleated sk... OMIM:255320
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Onion bulb formation, Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Decr... OMIM:601098
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials, Decreased number of large peripheral myelinated... OMIM:608673
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... OMIM:613424
Congenital Myopathy 3 With Rigid Spine
Increased variability in muscle fiber diameter, Flexion contracture, Centrally nucleated skeletal... OMIM:602771
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Megalocornea
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... OMIM:309300
Chronic Atrial And Intestinal Dysrhythmia
Bicuspid aortic valve, Pulmonic stenosis, Ventricular escape rhythm, Left atrial enlargement, Mit... OMIM:616201
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Flexion contracture, Respiratory failure, Death i... OMIM:300717
Romano-Ward Syndrome
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Abnormal auton... ORPHA:101016
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Left ventricular hypertrophy, Brad... OMIM:614022
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Respiratory insufficiency, Onion bulb formation, Decreased motor nerve conduction velocity, Perip... OMIM:605253
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology, Hypertrophic nerve c... DECIPHER:29
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,... ORPHA:437572
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... OMIM:118210
Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors
Fatigable weakness OMIM:254190
Gne Myopathy
Tibialis muscle weakness, Increased variability in muscle fiber diameter, Weakness of long finger... ORPHA:602
Attrv122I Amyloidosis
Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Abnormal au... ORPHA:85451
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscl... OMIM:615424
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Peripheral demyelination, Arrhythmia ORPHA:99944
Triose Phosphate-Isomerase Deficiency
Hypertrophic cardiomyopathy, Decreased nerve conduction velocity ORPHA:868
Autosomal Recessive Spastic Paraplegia Type 57
Abnormal myelination, Abnormality of peripheral nerve conduction, Optic atrophy ORPHA:431329
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Type 1 muscle fiber p... OMIM:613954
Burning Mouth Syndrome
Abnormality of somatosensory evoked potentials, Abnormal fifth cranial nerve morphology ORPHA:353253
Myofibrillar Myopathy 11
Increased variability in muscle fiber diameter, Z-band streaming, Centrally nucleated skeletal mu... OMIM:619178
Chronic Inflammatory Demyelinating Polyneuropathy
Abnormal nerve conduction velocity, Motor conduction block, Decreased nerve conduction velocity, ... ORPHA:2932
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle, Miosis OMIM:156600
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Generalized limb mu... OMIM:608358
Spinal Muscular Atrophy, Segmental
Segmental spinal muscular atrophy, Abnormal anterior horn cell morphology, Hand muscle atrophy OMIM:183020
Leber Hereditary Optic Neuropathy
Optic atrophy, Retinal telangiectasia, Myopathy, Arrhythmia, Ventricular preexcitation ORPHA:104
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Fatigable weakness, Generalized hypotonia due to defect at the neuromuscular junction, Decreased ... OMIM:605809
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory insufficiency, Distal arthrogryposis, Decreased muscle mass, Respiratory failure, Art... OMIM:208081
Subacute Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Abnormality of somatosensory evoked potentials, Diffuse peripheral demyel... ORPHA:206594
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination ORPHA:401840
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity OMIM:608236
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect, T-wave al... OMIM:618782
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... ORPHA:86812
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Dilated cardiomyopath... OMIM:601493
Cataract-Microcornea Syndrome
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy ORPHA:1377
Benign Schwannoma
Scleral schwannoma, Schwannoma, Abnormality of the twelfth cranial nerve, Peripheral schwannoma, ... ORPHA:252164
Congenital Myasthenic Syndromes With Glycosylation Defect
Fatigable weakness, Abnormal peripheral nervous system synaptic transmission, Favorable response ... ORPHA:353327
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Sick sinus syndrome, Arrhythmia OMIM:617173
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Megalocornea, Deep anterior chamber, Ectopia lentis, Microspherophakia, Iridodonesis OMIM:251750
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Centr... OMIM:117000
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Respiratory insufficiency, Increased variability in muscle fiber diameter, Centrally nucleated sk... OMIM:612999
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Respiratory failure, Spinal muscular atrophy, Proximal amyotrophy, Pro... OMIM:253300
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... OMIM:607734
Sick Sinus Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... OMIM:163800
Myopathy, Centronuclear, 2
Flexion contracture, Centrally nucleated skeletal muscle fibers, Generalized amyotrophy, EMG: myo... OMIM:255200
Attrv30M Amyloidosis
Abnormal autonomic nervous system physiology, Atrioventricular block, Arrhythmia, Cardiomegaly, C... ORPHA:85447
Mitochondrial Myopathy With Diabetes
Weakness of orbicularis oculi muscle, EMG: myopathic abnormalities, Ragged-red muscle fibers, Pro... OMIM:500002
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy, Irr... OMIM:601382
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Limb-girdle muscle weakness, Multiple joint contractures, Calf muscle ... ORPHA:370968
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Camptodactyly of finger, Denervation of the diaphragm, Spinal muscular atrophy, Diaphragmatic eve... OMIM:604320
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy OMIM:616209
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Respiratory insufficiency, Limb-girdle muscle weakness, Centrally nucleated skeletal muscle fiber... OMIM:255160
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... OMIM:612158
Iridocorneal Endothelial Syndrome
Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante... ORPHA:64734
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... OMIM:616117
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Distal lower limb amyotrophy, Lower limb muscle weakness, Decreased motor nerve conduction veloci... OMIM:620068
Charcot-Marie-Tooth Disease, Type 4A
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... OMIM:214400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitat... OMIM:610476
Hereditary Myopathy With Early Respiratory Failure
Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,... ORPHA:178464
Vacuolar Neuromyopathy
Muscle fiber splitting, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Shoulder ... OMIM:601846
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Peripheral axonal d... OMIM:607706
Myasthenic Syndrome, Congenital, 14
Knee flexion contracture, Increased variability in muscle fiber diameter, Limb-girdle muscle weak... OMIM:616228
Tubular Aggregate Myopathy
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, EMG: ... ORPHA:2593
Null Syndrome
Abnormality of peripheral nerve conduction, Optic atrophy, Demyelinating peripheral neuropathy, D... ORPHA:280234
Myopathy, Distal, Tateyama Type
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Calf ... OMIM:614321
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Cardiomyopathy, Familial Hypertrophic, 6
Myofiber disarray, Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric ... OMIM:600858
Coenzyme Q10 Deficiency, Primary, 7
Patent ductus arteriosus, Ventricular septal defect, Hypoplastic left heart, Hypertrophic cardiom... OMIM:616276
Ethanolaminosis
Cardiomegaly OMIM:227150
Pontocerebellar Hypoplasia Type 1
Congenital laryngeal stridor, Optic atrophy, Degeneration of anterior horn cells, Peripheral axon... ORPHA:2254
Intestinal Botulism
Mydriasis ORPHA:178481
Left Ventricular Noncompaction 1
Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia, Left ventricular hypertr... OMIM:604169
Intermediate Nemaline Myopathy
Flexion contracture, EMG: myopathic abnormalities, Facial diplegia, Nemaline bodies, Type 1 muscl... ORPHA:171433
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy OMIM:107970
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Congestive heart failure, Myocardial fibrosis, Hypertrophic cardiomyopathy,... OMIM:617222
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Z-band streaming, Fatty replacement of skeletal muscle, Centrally nucleated skeletal muscle fiber... OMIM:618823
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Spinal muscular atrophy, Joint contracture, Skeletal muscle atrophy, R... OMIM:616081
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Muscle fiber splitting, Increased variability in muscle fiber diameter, Fatty replacement of skel... OMIM:618129
Atrial Septal Defect 6
Atrial septal defect, Bradycardia, Atrial fibrillation OMIM:613087
Lower Motor Neuron Syndrome With Late-Adult Onset
Abnormal sensory nerve conduction velocity, EMG: myopathic abnormalities, Increased intramuscular... ORPHA:276435
Lethal Congenital Contracture Syndrome 5
Respiratory insufficiency, Flexion contracture, Centrally nucleated skeletal muscle fibers, Death... OMIM:615368
Cardiomyopathy, Dilated, 1I
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Red... OMIM:604765
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Flexion contracture, Recurrent aspiration pneumonia, Lower limb muscle weakness, Abnormal lower m... ORPHA:2590
Heart-Hand Syndrome, Slovenian Type
Supraventricular arrhythmia, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial nod... ORPHA:168796
Arnold-Chiari Malformation Type I
Cranial nerve compression, Abnormality of the eleventh cranial nerve, Abnormality of the musculat... ORPHA:268882
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Spinal muscular atrophy, Joint contracture of the hand, Abnormal lower motor neuron morphology, S... OMIM:611067
X-Linked Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... ORPHA:596
Autosomal Recessive Centronuclear Myopathy
Respiratory insufficiency, Hip contracture, Centrally nucleated skeletal muscle fibers, Generaliz... ORPHA:169186
Familial Short Qt Syndrome
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... ORPHA:51083
Myopathy, Myofibrillar, 5
Respiratory insufficiency, Muscle fiber splitting, Abnormal peripheral nervous system morphology,... OMIM:609524
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Congestive heart failure, Left ve... OMIM:615373
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Loeffler Endocarditis
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Myocardial fibrosis, Pericard... ORPHA:75566
Van Den Bosch Syndrome
Unfavorable response of muscle weakness to acetylcholine esterase inhibitors ORPHA:3417
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, D... OMIM:601494
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Prox... OMIM:614302
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Iris cyst OMIM:620086
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Abnormal EKG, Abnormal autonomic nervous sy... ORPHA:330001
Congenital Multicore Myopathy With External Ophthalmoplegia
Increased variability in muscle fiber diameter, Flexion contracture, Abnormal skeletal muscle mor... ORPHA:98905
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... OMIM:605588
Cardiomyopathy, Dilated, 2G
Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray... OMIM:619897
Iatrogenic Botulism
Mydriasis ORPHA:254509
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Charcot-Marie-Tooth Disease, Type 4H
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:609311
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Fatigable weakness, Prolonged miniature endplate currents OMIM:601462
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly, Bradycardia OMIM:614702
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Optic atrophy, Decr... OMIM:609260
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Respiratory failure, Calf muscle hypertrophy, Congenital muscular dystrophy, Achilles tendon cont... OMIM:606612
Myasthenic Syndrome, Congenital, 5
Fatigable weakness, Prolonged miniature endplate currents OMIM:603034
Autosomal Dominant Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Abnormality of the foot musculature, Calf muscle hype... ORPHA:169189
Wound Botulism
Mydriasis ORPHA:178475
Polyglucosan Body Myopathy 2
Limb-girdle muscle weakness, Pelvic girdle amyotrophy, Pelvic girdle muscle weakness, Muscle fibe... OMIM:616199
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Sudden cardiac death, Limb-girdle muscle weakness, Elbow flexion contracture, Decreased cervical ... OMIM:181350
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Froment sign, Segmental peripheral demyelination/remye... OMIM:162500
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Third degree atrioventricular block, Pericardial effusion, Ventricular arrh... OMIM:115200
Corneal Dystrophy, Posterior Polymorphous, 1
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... OMIM:122000
Myasthenic Syndrome, Congenital, 12
Fatigable weakness, Facial palsy OMIM:610542
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Decreased miniature endplate potentials, Facial palsy OMIM:608930
Progressive Familial Heart Block, Type Ib
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Increased variability in muscle fiber diameter, Flexion contracture, Centrally nucleated skeletal... OMIM:618484
Nathalie Syndrome
Arrhythmia ORPHA:2663
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Cranial ner... ORPHA:52430
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis ORPHA:247815
Inhalational Botulism
Mydriasis ORPHA:254504
Inclusion Body Myositis
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Inflammatory myopathy, Skeletal muscl... ORPHA:611
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Wrist flexion contracture, Muscle fiber splitting, Flexion contracture, Quadriceps muscle atrophy... ORPHA:206549
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Death in infancy, Peripheral axonal neuropathy, Central apnea, Respira... OMIM:611722
Adult-onset autosomal dominant leukodystrophy (ADLD)
Leukodystrophy, Peripheral demyelination DECIPHER:59
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Axonal regeneration, Decreased sensory nerve conductio... OMIM:608323
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Abnormal motor evoked potentials, Demyelinating sensory neuropathy, Decreased nerve conduction ve... ORPHA:99939
Myasthenic Syndrome, Congenital, 23, Presynaptic
Fatigable weakness OMIM:618197
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Muscle fiber splitting, Increased variability in muscle fiber diameter, Nocturnal hypoventilation... OMIM:603689
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Patent foramen ovale, Bradycardia, Sick sinus syndrome OMIM:617182
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Muscle fiber splitting, Flexion contracture, Muscular dystrophy, Shoulder girdle muscle weakness,... OMIM:603511
Developmental And Epileptic Encephalopathy 43
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder, Ataxia OMIM:617113
Roussy-Levy Hereditary Areflexic Dystasia
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... OMIM:180800
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Flexion contracture, Bradycardia, Dilated cardiomyopathy OMIM:618815
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Bradycardia, Left ventricular hypertrophy, Congestive heart failure OMIM:619048
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect OMIM:616277
Congenital Myopathy 5 With Cardiomyopathy
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Calf ... OMIM:611705
Muscular Dystrophy, Limb-Girdle, Type 1H
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, C... OMIM:613530
Combined Oxidative Phosphorylation Deficiency 51
Respiratory failure, Neonatal respiratory distress, Aspiration pneumonia, Optic atrophy OMIM:619057
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Demyelinating peripheral neuropathy, Acute demyelinati... ORPHA:101081
Incessant Infant Ventricular Tachycardia
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac rhabdomyoma, Cardiac arrest, W... ORPHA:45453
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Autophagic vacuoles,... ORPHA:399058
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Leukodystrophy, Hypomyelinating, 18
Demyelinating peripheral neuropathy, Failure to thrive, Decreased nerve conduction velocity, Abno... OMIM:618404
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance OMIM:614807
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Failure to thrive in infancy, Abnormality of peripheral nerve conduction, Decreased amplitude of ... ORPHA:90103
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Increased variability in muscle fiber diameter, Interosseus muscle atrop... OMIM:617072
Nemaline Myopathy 10
Flexion contracture, Fatty replacement of skeletal muscle, Death in infancy, Facial palsy, Nemali... OMIM:616165
Merrf
Myopathy, Ragged-red muscle fibers, Optic atrophy ORPHA:551
Neurotrophic Keratopathy
Abnormal fifth cranial nerve morphology ORPHA:137596
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Axonal regeneration, Decreased number of large periphe... OMIM:605285
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Abnormal left ventricular outflow tract morphology, Ambiguous atr... ORPHA:216694
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Episodic ataxia OMIM:234500
Long Qt Syndrome 9
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... OMIM:611818
Amyotrophic Lateral Sclerosis 4, Juvenile
Degeneration of anterior horn cells, Peripheral axonal degeneration, Abnormal lower motor neuron ... OMIM:602433
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory insufficiency, Death in infancy, Muscular dystrophy, Apnea, Respiratory failure OMIM:613869
Hereditary Motor And Sensory Neuropathy, Type Iic
Respiratory failure, Distal lower limb amyotrophy, Hand muscle atrophy, Decreased distal sensory ... OMIM:606071
Left Ventricular Noncompaction 10
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Left ... OMIM:615396
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Increased variability in muscle fiber diameter, Myopathy, Centrally nucleated skeletal muscle fibers OMIM:618992
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia OMIM:167400
Benign Samaritan Congenital Myopathy
Internally nucleated skeletal muscle fibers, Abnormal respiratory system physiology, Centrally nu... ORPHA:324581
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Multi... ORPHA:486815
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency due to ... OMIM:617066
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity, Truncal obesity, Arrhythmia ORPHA:2928
Cardiomyopathy, Dilated, 1Gg
Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Dilated ... OMIM:613642
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... OMIM:601154
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Pigment deposition in the trabecular meshwork, Iris pigment dispersio... ORPHA:69736
Neuropathy, Congenital Hypomyelinating, 2
Facial diplegia, Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, De... OMIM:618184
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... OMIM:604772
Perching Syndrome
Cyanosis, Joint contracture, Camptodactyly, Respiratory distress OMIM:617055
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Skeletal muscle atrophy ORPHA:247604
Long Qt Syndrome 13
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... OMIM:613485
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:615376
Nonaka Myopathy
Deposits immunoreactive to beta-amyloid protein, EMG: myopathic abnormalities, Distal lower limb ... OMIM:605820
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... OMIM:118220
Myopathy, Myofibrillar, 8
Centrally nucleated skeletal muscle fibers, Generalized amyotrophy, Achilles tendon contracture, ... OMIM:617258
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination ORPHA:401835
Botulism
Mydriasis ORPHA:1267
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Limb hypertonia, Optic atrophy, Abnormal autonomic nervous system physiology, Bradycardia, Joint ... OMIM:614498
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Decreased compound muscle action potential amplitude, Compound muscle action potential amplitude ... OMIM:616040
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:600882
Sandhoff Disease, Adult Form
Muscle fiber atrophy, Sensory axonal neuropathy, Tremor, Focal dystonia, Proximal muscle weakness... ORPHA:309169
Spinal Muscular Atrophy, X-Linked 2
Respiratory insufficiency, Flexion contracture, Multiple joint contractures, Spinal muscular atro... OMIM:301830
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... OMIM:609621
Wild Type Abeta2M Amyloidosis
Axonal loss, Decreased amplitude of sensory action potentials, Congestive heart failure, Decrease... ORPHA:85446
Long Qt Syndrome 5
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... OMIM:613695
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Tricuspid regurgitatio... OMIM:618052
Charcot-Marie-Tooth Disease, Type 4D
Onion bulb formation, Axonal loss, Abnormal auditory evoked potentials, Decreased nerve conductio... OMIM:601455
Congenital Muscular Dystrophy, Ullrich Type
Knee flexion contracture, Increased variability in muscle fiber diameter, Flexion contracture, Ge... ORPHA:75840
Timothy Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Prolonged QT interval,... OMIM:601005
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Increased variability in muscle fiber diameter, Flexion contracture, Respiratory failure, Spinal ... OMIM:616867
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Increased variability in muscle fiber diameter, Z-band streaming, Autophagic vacuoles, Internally... OMIM:618655
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Tick-Borne Encephalitis
Abnormal glossopharyngeal nerve morphology, Polyneuritis, Abnormal autonomic nervous system physi... ORPHA:297
Cln3 Disease
T-wave inversion, Left ventricular hypertrophy, Bradycardia, Optic atrophy ORPHA:228346
Foodborne Botulism
Mydriasis ORPHA:228371
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Gliosis, Death in infancy, Congenital contracture OMIM:225753
Cardiomyopathy, Familial Hypertrophic, 8
Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w... OMIM:608751
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:612577
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Optic disc pallor, Limb hypertonia, Perimembranous ventricular septal defect OMIM:619170
Myopathy, Centronuclear, 5
Respiratory insufficiency, Weakness of facial musculature, Hip contracture, Centrally nucleated s... OMIM:615959
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure, Gliosis, Cheyne-Stokes respiration OMIM:618328
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ragged-red muscle fibers, EMG: myopathic abnormalities, Facial palsy OMIM:609283
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Ragged-red muscle fibers, Sensory axonal neuropathy, Limb muscle we... OMIM:609286
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy OMIM:609909
Zebra Body Myopathy
Muscle fiber splitting, Autophagic vacuoles, Torticollis, EMG: myopathic abnormalities, Muscle fi... ORPHA:97240
Neuronopathy, Distal Hereditary Motor, Type Vc
Decreased compound muscle action potential amplitude OMIM:619112
Brugada Syndrome
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... ORPHA:130
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Infantile-Onset X-Linked Spinal Muscular Atrophy
Knee flexion contracture, Respiratory insufficiency, Hip contracture, Spinal muscular atrophy, De... ORPHA:1145
Atrial Standstill 1
Endocardial fibroelastosis, Atrial standstill, Premature atrial contractions, Atrial cardiomyopat... OMIM:108770
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... OMIM:118200
Atrial Standstill 2
Dilatation of the ventricular cavity, Atrial standstill, Atrial cardiomyopathy, Palpitations, Atr... OMIM:615745
Myopathy, Distal, 1
Toe extensor amyotrophy, Weakness of long finger extensor muscles, Amyotrophy of ankle musculatur... OMIM:160500
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Flexion contracture, Optic atrophy, Cerebellar gliosis, Tremor, Peripheral axonal neuropathy, Res... OMIM:616505
Charcot-Marie-Tooth Disease Type 1B
Peripheral dysmyelination, Decreased nerve conduction velocity, Peripheral axonal neuropathy ORPHA:101082
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials OMIM:618912
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... OMIM:612240
Long Qt Syndrome 8
Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ... OMIM:618447
Bilateral Polymicrogyria
Facial diplegia, Abnormal glossopharyngeal nerve morphology, Arthrogryposis multiplex congenita, ... ORPHA:268940
Muscular Dystrophy, Becker Type
Abnormal EKG, Muscular dystrophy, Calf muscle pseudohypertrophy, Arrhythmia, Cardiomyopathy OMIM:300376
Charcot-Marie-Tooth Disease, Type 4C
Segmental peripheral demyelination, Peripheral axonal degeneration, Decreased motor nerve conduct... OMIM:601596
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Vestibular schwannoma OMIM:613641
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Syncope, Atrioventricular b... OMIM:140400
Dystonia 31
Abnormal posturing, Writer's cramp, Leg dystonia, Craniofacial dystonia, Arm dystonia, Generalize... OMIM:619565
Spinocerebellar Ataxia Type 1
Abnormal nerve conduction velocity, Abnormality of somatosensory evoked potentials, Optic atrophy... ORPHA:98755
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure, Ragged-red muscle fibers OMIM:616794
Atrial Septal Defect, Sinus Venosus Type
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Right bundl... ORPHA:99105
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... OMIM:604400
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure, Limb muscle weakness, Hand muscle atrophy OMIM:600561
Tetanus
Abnormal autonomic nervous system physiology, Hypertension, Autonomic bladder dysfunction, Bradyc... ORPHA:3299
Leigh Syndrome
Respiratory insufficiency, Optic atrophy, Abnormal pattern of respiration, Gliosis, Respiratory f... OMIM:256000
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude OMIM:605726
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... OMIM:614021
Krabbe Disease
Optic atrophy, EEG abnormality, CNS demyelination, Failure to thrive, Decreased nerve conduction ... OMIM:245200
Cardiomyopathy, Familial Hypertrophic, 16
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Left ventricular hyper... OMIM:613838
Cataract 21, Multiple Types
Cortical pulverulent cataract, Cerulean cataract, Microcornea, Iris coloboma, Peters anomaly, Cor... OMIM:610202
Infant Botulism
Keratoconjunctivitis sicca, Mydriasis ORPHA:178478
Coronary Arterial Fistula
Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Bacte... ORPHA:2041
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Decreased nerve conduction velocity, Peripheral demyelination, CNS demyelination OMIM:249900
Mitochondrial Myopathy, Infantile, Transient
Macroglossia, Increased muscle lipid content, Increased muscle glycogen content, Hypertrophied mu... OMIM:500009
Sick Sinus Syndrome 4
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... OMIM:619464
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Hypertrophic cardi... OMIM:618775
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Myositis, Myopathy, Skeletal mu... OMIM:615422
Fixed Subaortic Stenosis
Atrioventricular canal defect, Systolic heart murmur, Bacterial endocarditis, Left ventricular ou... ORPHA:3092
Coats Disease
Leukocoria OMIM:300216
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Respiratory insufficiency, Centrally nucleated skeletal muscle fibers, Reduced forced vital capac... OMIM:619518
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude, Spa... OMIM:606353
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Cardiomyopathy, Familial Hypertrophic, 1
Subvalvular aortic stenosis, Congestive heart failure, Asymmetric septal hypertrophy, Arrhythmia OMIM:192600
Aniridia 2
Lens subluxation, Cataract, Iris coloboma, Aniridia OMIM:617141
Neuronopathy, Distal Hereditary Motor, Type Vb
Decreased motor nerve conduction velocity OMIM:614751
Tako-Tsubo Cardiomyopathy
Hypotension, Coronary artery stenosis, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris... ORPHA:66529
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Spinal muscular atrophy, Ventilator dependence with inability to wean,... ORPHA:254875
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity, Abnormal heart valve morphology, Cardiomyopathy ORPHA:93476
Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria
Abnormal mitochondria in muscle tissue, Abnormal cranial nerve morphology OMIM:258470
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure, Weakness of facial musculature, Tremor OMIM:618637
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculature, Foot dorsiflexor weakn... OMIM:181400
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity OMIM:605589
Arthrogryposis Multiplex Congenita 6
Increased variability in muscle fiber diameter, Death in infancy, Nemaline bodies, Respiratory fa... OMIM:619334
Pulmonary Blastoma
Weight loss ORPHA:64741
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Knee flexion contracture, Muscle fiber splitting, Increased variability in muscle fiber diameter,... OMIM:616313
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Generalized amyotrophy, Shoulder girdle muscle weakness, Pelvic girdle amyotrophy, Pelvic girdle ... OMIM:167320
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Rhabd... OMIM:620138
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Ventricular hypertrophy, Rhabdomyolysis, Cardiac arrest, Premature ventricular contr... OMIM:212138
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, EEG abnormality, Motor axonal neuropathy, Sensory axonal neuropathy, Decreased ner... ORPHA:457205
Cednik Syndrome
Abnormality of peripheral nerve conduction, Congestive heart failure, Optic atrophy ORPHA:66631
Myopathy, Distal, 5
Muscle fiber splitting, Weakness of facial musculature, Myopathy, Distal lower limb muscle weakne... OMIM:617030
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Flexion contracture, Optic atrophy, Abnormal mitochondria in muscle tissue, Increased intramyocel... OMIM:252011
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia OMIM:600919
Phosphoserine Aminotransferase Deficiency
Apnea, Cyanotic episode, Death in infancy OMIM:610992
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency
Fatigable weakness, Facial palsy OMIM:616325
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... OMIM:115197
Amyotrophic Lateral Sclerosis 5, Juvenile
Distal amyotrophy, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Respira... OMIM:602099
Neuralgic Amyotrophy
Respiratory insufficiency, Scapular winging, Acrocyanosis ORPHA:2901
Coenzyme Q10 Deficiency, Primary, 5
Decreased level of coenzyme Q10 in skeletal muscle, Bradycardia, Left ventricular hypertrophy OMIM:614654
Charcot-Marie-Tooth Disease, Type 4B3
Onion bulb formation, Decreased nerve conduction velocity, Myelin outfoldings OMIM:615284
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... OMIM:614895
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... OMIM:608758
Myasthenic Syndrome, Congenital, 3B, Fast-Channel
Fatigable weakness, Facial palsy OMIM:616322
Sick Sinus Syndrome 1
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... OMIM:608567
Charcot-Marie-Tooth Disease Type 2B1
Decreased number of peripheral myelinated nerve fibers, Motor axonal neuropathy, Axonal loss, Dec... ORPHA:98856
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... OMIM:145900
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased intramyocellular lipid droplets, Weakness of facial musculature, Restrictive ventilator... ORPHA:457050
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Onion... OMIM:607684
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Shoulder girdle muscle weakness, Flexion limitation of toes, Pelv... OMIM:609115
Charcot-Marie-Tooth Disease Type 4A
Chronic axonal neuropathy, Motor conduction block, Demyelinating peripheral neuropathy, Decreased... ORPHA:99948
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Right bundle branch block, Lower limb muscle weakness, Calf muscle hypertrophy, Abn... ORPHA:268
Cardiomyopathy, Familial Hypertrophic, 12
Sudden cardiac death, Reduced left ventricular endsystolic diameter, Ventricular septal hypertrop... OMIM:612124
Posterior Polymorphous Corneal Dystrophy
Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal... ORPHA:98973
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrial septal defect, Atrioventricular block, Abnormal heart morpholog... OMIM:614954
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells ORPHA:65684
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Ventricular arrhythmia, Congestive heart failure, Dilated card... OMIM:600884
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Severe Congenital Nemaline Myopathy
Flexion contracture, Type 1 muscle fiber predominance, Facial diplegia, Nemaline bodies, Skeletal... ORPHA:171430
Muscular Dystrophy, Progressive Pectorodorsal
Muscular dystrophy, Scapular winging, Shoulder girdle muscle weakness, Arrhythmia OMIM:310095
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Optic disc pallor, Death in infancy OMIM:618240
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration, Decreased motor nerv... OMIM:607831
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Triceps weakness, Tremor, Intrinsic hand muscle atrop... OMIM:619574
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory insufficiency, Respiratory failure, Arthrogryposis multiplex congenita, Optic atrophy OMIM:615330
Distal Hereditary Motor Neuropathy Type 5
Abnormal motor nerve conduction velocity ORPHA:139536
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Type 1 muscle fiber predominanc... OMIM:619542
Charcot-Marie-Tooth Disease Type 4G
Motor conduction block, Decreased motor nerve conduction velocity, Demyelinating peripheral neuro... ORPHA:99953
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Reduced left ventricular ejection fraction, Conge... OMIM:614096
Atrial Fibrillation, Familial, 9
Permanent atrial fibrillation, Syncope, Palpitations, Prolonged QTc interval, Paroxysmal atrial f... OMIM:613980
Triosephosphate Isomerase Deficiency
Respiratory insufficiency, Death in infancy, Jaundice, Respiratory distress, Myopathy, Skeletal m... OMIM:615512
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Ventricular septal defect, Optic atrophy, Cardiac arrest, Congesti... ORPHA:49827
Cardiomyopathy, Familial Hypertrophic, 11
Right bundle branch block, Cardiac arrest, Syncope, Left ventricular hypertrophy, Angina pectoris... OMIM:612098
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Generalized amyotrophy, Ragged-red muscle fibers, Facial diplegia, EMG: myopathic abnormalities, ... OMIM:609560
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J
Decreased motor nerve conduction velocity OMIM:620111
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Chronic axonal neuropathy, Axonal loss, Peripheral axonal degeneration, Decreased number of small... ORPHA:101097
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure, Amyotrophic lateral sclerosis OMIM:613435
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Onion bulb formation, Decreased motor nerve conduction velocity, Demyelinating peripheral neuropa... OMIM:218000
Brugada Syndrome 1
Sudden cardiac death, Right bundle branch block, Cardiac arrest, Syncope, Supraventricular tachyc... OMIM:601144
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity ORPHA:640
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Decr... OMIM:619279
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Internally nucleated skelet... OMIM:618654
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... ORPHA:67043
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity ORPHA:101075
Dystonia 1, Torsion, Autosomal Dominant
Abnormal posturing, Blepharospasm, Multiple joint contractures, Writer's cramp, Torticollis, Tors... OMIM:128100
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Head tremor, Abnormal motor neuron morphology, Intention tremor OMIM:613724
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Wolff-Parkinson-White Syndrome
Sudden cardiac death, Wolff-Parkinson-White syndrome, Syncope, Ventricular preexcitation with mul... OMIM:194200
Familial Dilated Cardiomyopathy
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... ORPHA:217607
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Demyelinating peripheral... ORPHA:101077
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Abnormal cardiac septum morphology, Arrhythmia ORPHA:1479
Long Qt Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Notched... OMIM:613688
Tuberculosis
Weight loss ORPHA:3389
Multiminicore Myopathy
Respiratory insufficiency, Abnormal muscle fiber morphology, Congenital muscular dystrophy, Myopa... ORPHA:598
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle... OMIM:618920
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Death in infancy, Respiratory distress, Myopathy, Neo... OMIM:300219
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Myopathy, Respiratory distress ORPHA:91130
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia, Weakness of facial musculature, Angulated muscle fibers, Scapular winging, ... OMIM:619477
Myopathy, X-Linked, With Postural Muscle Atrophy
Increased variability in muscle fiber diameter, Achilles tendon contracture, EMG: myopathic abnor... OMIM:300696
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Respiratory insufficiency, Increased variability in muscle fiber diameter, Centrally nucleated sk... OMIM:607459
Chiari Malformation Type Ii
Cyanosis, Myelomeningocele, Spina bifida, Hydrocephalus, Syringomyelia, Cervical myelopathy, Opis... OMIM:207950
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Syncope, Decreased sensory nerve conduction velocity OMIM:603472
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy OMIM:613287
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity OMIM:607678
Danon Disease
Second degree atrioventricular block, Increased QRS voltage, Generalized amyotrophy, Severely red... OMIM:300257
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait ataxia, Hyperactivity, Inability to walk, Gait disturbance, Dysmetria OMIM:618090
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Syncope, Congestive heart failure, Heart block, Arrhythmia ORPHA:871
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Peripheral axonal neuropathy OMIM:608895
Charcot-Marie-Tooth Disease, Type 4B2
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:604563
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, T-wave inversion, Ventricular arrhythmia, Syncope, Ventricular ... OMIM:611528
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Optic atrophy, Atrial septal defect, Situs inversus totalis, Arrhythmi... OMIM:249270
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Paroxysma... ORPHA:45452
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity OMIM:302801
Combined Oxidative Phosphorylation Deficiency 13
Leukodystrophy, Decreased nerve conduction velocity OMIM:614932
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Iris hypopigmentation, Astigmatism, Ocular albinism ORPHA:54
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Camptodactyly, Arrhythmia OMIM:618453
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Bradycardia, ... ORPHA:542306
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Patent foramen ovale, Neonatal death, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ... OMIM:619167
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... OMIM:616812
Nemaline Myopathy 2
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Fatt... OMIM:256030
Familial Supernumerary Nipples
Supernumerary nipple ORPHA:2456
Woolly Hair Nevus
Heterochromia iridis, Persistent pupillary membrane ORPHA:79414
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Pulmonary arterial hypertension, Death in infancy, Facial paralysis, R... OMIM:605711
Autosomal Recessive Spastic Paraplegia Type 69
Abnormal myelination ORPHA:401830
Autosomal Recessive Spastic Paraplegia Type 21
Abnormality of peripheral nerve conduction ORPHA:101001
Proximal Spinal Muscular Atrophy
Knee flexion contracture, Flexion contracture, Respiratory failure, Multiple joint contractures, ... ORPHA:70
Woolly Hair
Abnormal pupil morphology, Cataract ORPHA:170
Apnea, Central Sleep
Cyanosis, Sleep apnea, Abnormal pattern of respiration, Irregular respiration OMIM:207720
Klippel-Feil Syndrome 3, Autosomal Dominant
Iris coloboma, Chorioretinal coloboma OMIM:613702
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Decreased muscle mass, Right bundle branch block, T-wave inversion, Vent... ORPHA:263297
Cardiomyopathy, Dilated, 1G
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre... OMIM:604145
Hyperprolinemia, Type I
Hyperactivity, Ataxia OMIM:239500
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, G... OMIM:105550
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Calf muscle... OMIM:618848
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Pericardial effusion, T-wave inversion, ST segment depression, Congestive heart fail... OMIM:261740
Long Qt Syndrome 6
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Prolong... OMIM:613693
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity, Chronic axonal neuropathy OMIM:606595
Early-Onset X-Linked Optic Atrophy
Decreased nerve conduction velocity, Optic atrophy, Optic disc pallor ORPHA:98890
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Abnormal respiratory system physiology, Skeletal muscle atrophy, Amyotrophi... ORPHA:803
Serotonin Syndrome
Mydriasis ORPHA:43116
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, EMG: myopathic abnormalities, Distal upper limb amyotro... ORPHA:603
Polyarteritis Nodosa
Weight loss, Polyneuritis, Raynaud phenomenon, Hypertension, Pericarditis, Sensory axonal neuropa... ORPHA:767
Anterior Segment Dysgenesis 6
Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... OMIM:617315
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Sudden cardiac death, Knee flexion contracture, Elbow flexion contracture, Achilles tendon contra... OMIM:310300
Naxos Disease
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Abnormal morph... OMIM:601214
Atrial Fibrillation, Familial, 4
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Atrial fibrillation, ... OMIM:611493
Congenitally Uncorrected Transposition Of The Great Arteries
Left ventricular outflow tract obstruction, Ventricular septal defect, Abnormal mitral valve morp... ORPHA:860
Vocal Cord And Pharyngeal Distal Myopathy
Aspiration, Abnormality of the calf musculature, Shoulder girdle muscle weakness, Distal upper li... ORPHA:600
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:616437
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Episodic respiratory distress, Limb-girdle muscle weakness, Muscle fiber atrophy, Centr... ORPHA:98914
Congenital Myasthenic Syndrome
Cyanosis, Episodic respiratory distress, Limb-girdle muscle weakness, Muscle fiber atrophy, Centr... ORPHA:590
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... OMIM:613251
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... OMIM:269400
Hyperekplexia 4
Respiratory failure, Distal arthrogryposis, Flexion contracture, Camptodactyly OMIM:618011
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles, Amyotrophic lateral sclerosis OMIM:615426
Immunodeficiency 95
Respiratory failure, Respiratory distress, Recurrent viral pneumonia OMIM:619773
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Increased variability in muscle fiber diameter, Distal lower limb amyotrophy, Calf muscle hypertr... OMIM:601954
Amyotrophic Lateral Sclerosis 2, Juvenile
Retrocollis, Spasticity of facial muscles, Opisthotonus, Distal lower limb amyotrophy, Hand muscl... OMIM:205100
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy OMIM:600361
Marinesco-Sjogren Syndrome
Flexion contracture, Centrally nucleated skeletal muscle fibers, Myopathy, Skeletal muscle atroph... OMIM:248800
Myopathy, Myofibrillar, 2
Muscle fiber splitting, Limb-girdle muscle weakness, Lower limb muscle weakness, Muscular dystrop... OMIM:608810
Autosomal Recessive Spastic Paraplegia Type 67
Abnormal myelination ORPHA:401820
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory insufficiency, Apnea, Sensory axonal neuropathy, Respiratory failure, Neonatal death OMIM:610127
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormal posturing, Generalized dystonia, Aspiration pneumonia, Cough, Opisthotonus, Optic disc p... ORPHA:216866
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Respiratory insufficiency, Respiratory failure, Death in infancy, Skeletal muscle atrophy, Neonat... OMIM:245400
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Choreoathetosis, Dystonia, Central apnea ORPHA:71277
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Pericardial effusion, Ventr... ORPHA:300751
Mitochondrial Complex I Deficiency, Nuclear Type 10
Optic atrophy, Apnea, Central hypoventilation, Respiratory failure, Sleep apnea OMIM:618233
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Optic atrophy, Death in infancy, Respiratory distress, Respiratory fai... OMIM:614299
Isaacs Syndrome
Weight loss, EEG abnormality ORPHA:84142
Leber Optic Atrophy
Optic neuropathy, Myopathy, Optic atrophy, Arrhythmia OMIM:535000
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Head titubation, Gliosis, Vestibular areflexia, Respiratory ... ORPHA:3240
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Hypoplasia of the musculature, Skeletal muscle atrophy, N... OMIM:253310
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythm... ORPHA:1345
Polyglucosan Body Neuropathy, Adult Form
Orthostatic hypotension, Abnormal upper motor neuron morphology, Peripheral axonal neuropathy, Ne... OMIM:263570
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Sudden cardiac death, Cardiac arrest, Syncope, Premature ventricular contraction, Ventricular tac... OMIM:614916
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... OMIM:610193
Neuronopathy, Distal Hereditary Motor, Type Iid
Decreased motor nerve conduction velocity OMIM:615575
Scapuloperoneal Spinal Muscular Atrophy
Respiratory insufficiency, Muscle fiber splitting, Progressive distal muscular atrophy, Peroneal ... OMIM:181405
Spondylometaphyseal Dysplasia, X-Linked
Knee flexion contracture, Respiratory insufficiency, Respiratory failure, Hip contracture OMIM:313420
Mitochondrial Dna Depletion Syndrome 11
Generalized amyotrophy, Dilated cardiomyopathy, Arrhythmia, Proximal amyotrophy, Ragged-red muscl... OMIM:615084
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... ORPHA:708