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:
HRGalpha,  ARIA,  heregulin,  NDF,  D230005F13Rik,  Hgl,  HRG,  HGL,  6030402G23Rik,  SMDF,  GGF,  GGFII

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
Developmental cataract, Persistent pupillary membrane, Megalocornea 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
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... OMIM:177650
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Facial Spasm
Anisocoria OMIM:134300
Spinal Muscular Atrophy, Type Iv
Hand tremor, Calf muscle hypertrophy, Rimmed vacuoles, Spinal muscular atrophy, Muscle fiber necr... OMIM:271150
Gilles De La Tourette Syndrome
Compulsive behaviors, Phonic tics, Motor tics, Attention deficit hyperactivity disorder, Self-mut... OMIM:137580
Pelizaeus-Merzbacher disease
Abnormal CNS myelination, Leukodystrophy DECIPHER:38
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Prolonged miniature endplate currents, Decreased miniature endplate potentials OMIM:616321
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 4
Delayed myelination OMIM:611107
Myasthenic Syndrome, Congenital, 15
Fatigable weakness OMIM:616227
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,... OMIM:617319
Myopathy, Myofibrillar, 1
Bradycardia, Restrictive cardiomyopathy, Facial palsy, EMG: myopathic abnormalities, Hypertrophic... OMIM:601419
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Muscular dystrophy, Calf muscle pseudohypertrophy, Facial palsy, EMG: myopathic abnormalities, In... OMIM:254110
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Anterior Segment Dysgenesis 3
Abnormal iris vasculature, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Posterior e... OMIM:601631
Myasthenic Syndrome, Congenital, 18
Fatigable weakness OMIM:616330
His Bundle Tachycardia
Neoplasm of the heart, Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia ORPHA:3283
Myasthenic Syndrome, Congenital, 13
Fatigable weakness OMIM:614750
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia OMIM:614896
Atrial Standstill
Bradycardia, Cardiomyopathy, Abnormal heart morphology, Mobitz I atrioventricular block, Ventricu... ORPHA:1344
Corneal Dystrophy, Posterior Amorphous
Corneal dystrophy, Ectopia pupillae, Iris coloboma OMIM:612868
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Amyotrophic Lateral Sclerosis 21
Distal lower limb muscle weakness, Decreased nerve conduction velocity, Abnormal upper motor neur... OMIM:606070
Microphthalmia/Coloboma 10
Chorioretinal coloboma, Microcoria, Iris coloboma OMIM:616428
Myopathy, Centronuclear, 1
Proximal upper limb amyotrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle... OMIM:160150
Cardiac Conduction Defect
Syncope, Arrhythmia OMIM:115080
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Peripheral axonal neuropathy, Facial diplegia, Paucity of... OMIM:611890
Nemaline Myopathy 8
Facial palsy, Nemaline bodies, Myofibrillar myopathy, Death in infancy, Flexion contracture, Resp... OMIM:615348
Benign Schwannoma
Abnormality of the twelfth cranial nerve, Peripheral schwannoma, Abnormal cranial nerve morpholog... ORPHA:252164
Glossopharyngeal Neuralgia
Abnormal glossopharyngeal nerve morphology, Bradycardia, Cranial nerve compression, Jaw claudicat... ORPHA:221098
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... OMIM:617280
Myopathy, Scapulohumeroperoneal
Scapular winging, Facial palsy, Nemaline bodies, Increased variability in muscle fiber diameter, ... OMIM:616852
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Uveal Melanoma
Mydriasis, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Iris melanoma ORPHA:39044
Proximal Myopathy With Extrapyramidal Signs
Optic atrophy, Central core regions in muscle fibers, Resting tremor, Peripheral axonal neuropath... ORPHA:401768
Myopathy, Sarcoplasmic Body
Sarcoplasmic bodies, Weakness of the intrinsic hand muscles, Increased variability in muscle fibe... OMIM:620286
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Hip flexor weakness, Facial hypotonia, Respiratory insufficiency, Autophagic vacuoles, EMG: myopa... ORPHA:266
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Rimmed vacuoles, Scap... OMIM:301075
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Distal amyotrophy, Hand muscle weakness, Hand muscle atrophy, Weakness of facial musculature, Abn... OMIM:607641
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Muscular dystrophy, Rimmed vacuoles, Scapular winging, Autophagic vacuoles, EMG: myopathic abnorm... OMIM:608423
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Cardiomyopathy, Onion bulb formation OMIM:610100
Marcus-Gunn Syndrome
Abnormal fifth cranial nerve morphology, Abnormal heart morphology ORPHA:91412
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Abnormal seventh cranial physiology, Tremor, ... ORPHA:90117
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Respiratory failure requiring assisted ventilation, Proximal muscle weakness in upper limbs, Resp... OMIM:620375
Romano-Ward Syndrome
Torsade de pointes, Prolonged QTc interval, Abnormal autonomic nervous system physiology, Sinus b... ORPHA:101016
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Rimmed vacuoles, Scapular winging, Increased variability... OMIM:619733
Myasthenic Syndrome, Congenital, 6, Presynaptic
Generalized hypotonia due to defect at the neuromuscular junction, Decreased miniature endplate p... OMIM:254210
Ectopia Lentis Et Pupillae
Iris transillumination defect, Persistent pupillary membrane, Ectopia lentis, Ectopia pupillae, C... OMIM:225200
Burning Mouth Syndrome
Abnormal fifth cranial nerve morphology, Abnormality of somatosensory evoked potentials ORPHA:353253
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Rimmed vacuoles, Facial palsy, Scapular winging, EMG... OMIM:617158
Cardiomyopathy, Dilated, 1R
Congestive heart failure, Restrictive cardiomyopathy, Ventricular arrhythmia, Cardiomyocyte hyper... OMIM:613424
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Left atrial enlargement, Atrial flutter, Bradycardia, Permanent a... OMIM:614022
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Chronic Atrial And Intestinal Dysrhythmia
Left atrial enlargement, Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, P... OMIM:616201
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Dysphagia, Impulsivity, Gait ataxia OMIM:620448
Congenital Myopathy 1B, Autosomal Recessive
Muscular dystrophy, Type 1 and type 2 muscle fiber minicore regions, Respiratory insufficiency, F... OMIM:255320
Congenital Myopathy 4A, Autosomal Dominant
Respiratory insufficiency, Facial palsy, Type 1 fibers relatively smaller than type 2 fibers, Cen... OMIM:255310
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Death in adolescence, Increased variability in muscle fiber diameter, Respiratory insufficiency d... OMIM:300717
Muscular Dystrophy, Congenital, 1B
Muscular dystrophy, Facial palsy, Pectoralis amyotrophy, Generalized muscle hypertrophy, Sternocl... OMIM:604801
Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors
Fatigable weakness OMIM:254190
Congenital Myopathy 10A, Severe Variant
Respiratory insufficiency, Facial palsy, EMG: myopathic abnormalities, Muscle fiber necrosis, Cam... OMIM:614399
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology, Decreased motor nerve conduction velocity, Hypertrophic nerve c... DECIPHER:29
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection... ORPHA:85451
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Rimmed vacuoles, Increased variability in muscle fiber diameter, C... OMIM:615424
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Peripheral hypomyelination, Respiratory insufficiency, Abnormal cranial nerve morphology, Distal ... OMIM:605253
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Peripheral hypomyelination, Decreased nerve conduction... OMIM:611228
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in upper limbs, Abnormal lower motor neuron morphology, Limb muscle weak... OMIM:613954
Microcoria, Congenital
Miosis, Hypoplasia of the iris dilator muscle, Microcoria OMIM:156600
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction, Abnormal myelination ORPHA:431329
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Generalized hypotonia due to defect at the neuromuscular junction, Decreased miniature endplate p... OMIM:605809
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity, Hypertrophic cardiomyopathy ORPHA:868
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Muscle fiber splitting, Ankle flexion contracture, Calf muscle hypertrophy, Rimmed vacuoles, Incr... OMIM:617760
Chronic Inflammatory Demyelinating Polyneuropathy
Decreased nerve conduction velocity, Abnormal nerve conduction velocity, Motor conduction block, ... ORPHA:2932
Tibial Muscular Dystrophy
Rimmed vacuoles, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Ce... ORPHA:609
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology, Hand muscle atrophy, Segmental spinal muscular atrophy OMIM:183020
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Peripheral demyelination, Arrhythmia ORPHA:99944
Leber Hereditary Optic Neuropathy
Optic atrophy, Retinal telangiectasia, Arrhythmia, Ventricular preexcitation, Myopathy ORPHA:104
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia OMIM:611938
Gne Myopathy
Hip flexor weakness, Muscle fiber inclusion bodies, Lower limb amyotrophy, Rimmed vacuoles, Abnor... ORPHA:602
Long Qt Syndrome 16
Perimembranous ventricular septal defect, Bradycardia, Prolonged QTc interval, T-wave alternans, ... OMIM:618782
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination ORPHA:401840
Microphthalmia/Coloboma 7
Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Congenital Myasthenic Syndromes With Glycosylation Defect
Favorable response of weakness to acetylcholine esterase inhibitors, Facial palsy, Fatigable weak... ORPHA:353327
Amyotrophic Lateral Sclerosis 28
Rimmed vacuoles, Upper limb muscle weakness, Fiber type grouping, Skeletal muscle atrophy, Respir... OMIM:620452
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,... OMIM:601493
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Ankle flexion contracture, Central core regions in muscle fibers, Nemaline bodies, Increased vari... OMIM:117000
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased distal sensory nerve action potential, Decreased nerve conduction velocity, Decreased m... OMIM:601098
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Abnormal autonomic nervous system physiology, Arrhythmia, Atriovent... ORPHA:85447
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Respiratory insufficiency, Scapular winging, Increased variability in muscle ... OMIM:612999
Myopathy, Myofibrillar, 3
Muscle fiber splitting, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Myofibril... OMIM:609200
Slowed Nerve Conduction Velocity, Autosomal Dominant
Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination OMIM:608236
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Spinal Muscular Atrophy, Type I
Death in childhood, Respiratory insufficiency, Spinal muscular atrophy, Proximal amyotrophy, Resp... OMIM:253300
Myopathy, Centronuclear, 2
Facial palsy, Scapular winging, EMG: myopathic abnormalities, Generalized amyotrophy, Centrally n... OMIM:255200
Postsynaptic Congenital Myasthenic Syndromes
Hip flexor weakness, Cyanosis, Abnormality of masticatory muscle, Triceps weakness, Upper limb mu... ORPHA:98913
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro... OMIM:612158
Atrial Septal Defect, Sinus Venosus Type
Congestive heart failure, Atrial flutter, Atrial fibrillation, Supraventricular arrhythmia, Supra... ORPHA:99105
Mitochondrial Myopathy With Diabetes
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Weakness of orbicularis ocu... OMIM:500002
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Hypoglycosylatio... ORPHA:370968
Myofibrillar Myopathy 11
Type 1 muscle fiber predominance, Calf muscle hypertrophy, EMG: myopathic abnormalities, Increase... OMIM:619178
Iridocorneal Endothelial Syndrome
Polycoria, Iris nevus, Posterior synechiae of the anterior chamber, Corneal stromal edema, Iris a... ORPHA:64734
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Ragged-red muscle fibers, Facial palsy, Proximal muscle weakness in lower limbs OMIM:616209
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Congenital Myopathy 3 With Rigid Spine
Muscular dystrophy, Type 1 and type 2 muscle fiber minicore regions, Facial palsy, Increased vari... OMIM:602771
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitations, Sudden cardiac d... OMIM:610476
Null Syndrome
Optic atrophy, Decreased nerve conduction velocity, Demyelinating peripheral neuropathy, CNS hypo... ORPHA:280234
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Distal upper limb amy... OMIM:620068
Intermediate Nemaline Myopathy
Facial diplegia, Facial palsy, EMG: myopathic abnormalities, Nemaline bodies, Arthrogryposis mult... ORPHA:171433
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Muscle fiber splitting, Muscular dystrophy, Rimmed vacuoles, Scapular winging, Centrally nucleate... OMIM:601846
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Generalized limb muscle atrophy, Pelvic girdle muscle weakness, Calf muscle pseudohypertrophy, Sc... OMIM:608358
Myasthenic Syndrome, Congenital, 14
Knee flexion contracture, Ragged-red muscle fibers, Scapular winging, Muscle fiber tubular inclus... OMIM:616228
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Tubular Aggregate Myopathy
Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Increased variability in muscle fi... ORPHA:2593
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypertrophic cardiomyopathy, Patent ductus arteriosus, Ventricular septal defect, Hy... OMIM:616276
Myopathy, Distal, Tateyama Type
Calf muscle hypertrophy, Hand muscle weakness, Increased variability in muscle fiber diameter, Ce... OMIM:614321
Ethanolaminosis
Cardiomegaly OMIM:227150
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Mye... OMIM:601382
Left Ventricular Noncompaction 1
Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Ventri... OMIM:604169
Congenital Myopathy 14
Knee flexion contracture, Elbow flexion contracture, Death in infancy, Increased variability in m... OMIM:618414
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Subacute Inflammatory Demyelinating Polyneuropathy
Demyelinating motor neuropathy, Decreased distal sensory nerve action potential, Decreased sensor... ORPHA:206594
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials, Decreased number of large peripheral myelinated... OMIM:608673
Pontocerebellar Hypoplasia, Type 1C
Death in childhood, Respiratory insufficiency, Spinal muscular atrophy, Joint contracture, Skelet... OMIM:616081
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Muscle fiber splitting, Scapular winging, Increased variability in muscle fiber diameter, Central... OMIM:618129
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Sudden Cardiac Failure, Infantile
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocardial fibro... OMIM:617222
Cardiomyopathy, Dilated, 1I
Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ... OMIM:604765
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Onion bul... OMIM:608323
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia, Nemaline bodies, Increased variability in muscle fiber diameter, Neonatal death, Wea... OMIM:620265
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal ... OMIM:617066
Van Den Bosch Syndrome
Unfavorable response of muscle weakness to acetylcholine esterase inhibitors ORPHA:3417
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Arrhythmia, Dilated cardiomyop... ORPHA:168796
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Tremor, Respiratory insufficiency due to muscle weakness, Respiratory failure, Abnormal lower mot... ORPHA:2590
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Increased intramuscul... ORPHA:276435
Polyglucosan Body Myopathy 2
Peroneal muscle weakness, Muscle fiber inclusion bodies, Muscle fiber polyglucosan inclusion bodi... OMIM:616199
Intestinal Botulism
Mydriasis ORPHA:178481
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Distal amyotrophy, Spinal muscular atrophy, Respiratory insufficiency due to muscle weakness, Sca... OMIM:611067
Loeffler Endocarditis
Left atrial enlargement, Abnormal morphology of the chordae tendinae of the mitral valve, Myocard... ORPHA:75566
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Arnold-Chiari Malformation Type I
Abnormality of the vestibulocochlear nerve, Abnormality of the twelfth cranial nerve, Abnormality... ORPHA:268882
Lethal Congenital Contracture Syndrome 5
Decreased nerve conduction velocity, Respiratory insufficiency, Congenital contracture, Death in ... OMIM:615368
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity, Decreased amplitude of sensory action potentials, Decreased ... ORPHA:90103
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Muscle fiber hyaline bodies, Death in early adulthood, Respiratory insufficiency, Calf muscle hyp... OMIM:255160
Autosomal Recessive Centronuclear Myopathy
Respiratory insufficiency, Facial diplegia, Scapular winging, Facial palsy, Generalized amyotroph... ORPHA:169186
Pontocerebellar Hypoplasia Type 1
Optic atrophy, Peripheral axonal neuropathy, Skeletal muscle atrophy, Degeneration of anterior ho... ORPHA:2254
Rhabdomyolysis, Susceptibility To, 1
Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance, Rhabdomyolysis,... OMIM:620235
Left Ventricular Noncompaction 8
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... OMIM:615373
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Corneal dystrophy, Ectopia pupillae, Corneal guttata OMIM:609141
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Muscular dystrophy, Bradycardia, Atrial fibrillation, Increased variability in muscle fiber diame... OMIM:614302
Congenital Heart Block
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Patent foramen oval... ORPHA:60041
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Decreased nerve conduction velocity, Axonal degeneration, Ventilator dependence with inability to... OMIM:604320
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis ORPHA:247815
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula... OMIM:618920
Cardiomyopathy, Dilated, 2G
Left atrial enlargement, Aortic regurgitation, Paroxysmal ventricular tachycardia, Myocardial sar... OMIM:619897
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Iris cyst OMIM:620086
Wild Type Attr Amyloidosis
Congestive heart failure, Myocardial infarction, Bradycardia, Atrial fibrillation, Abnormal auton... ORPHA:330001
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Calf muscle hypertrophy, Triceps weakness, Limb-girdle muscle weakness, Centr... ORPHA:86812
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Corneal Dystrophy, Posterior Polymorphous, 1
Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma... OMIM:122000
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Prolonged miniature endplate currents, Fatigable weakness OMIM:601462
Myopathy, Myofibrillar, 5
Muscle fiber splitting, Respiratory insufficiency, Muscle fiber cytoplasmatic inclusion bodies, M... OMIM:609524
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:607734
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers, Fatty replacement o... OMIM:618823
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Bradycardia, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly OMIM:614702
Myasthenic Syndrome, Congenital, 5
Prolonged miniature endplate currents, Fatigable weakness OMIM:603034
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Attention deficit hyperactivity disorder, Ataxia, Impulsivity OMIM:617113
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Facial palsy, Decreased miniature endplate potentials OMIM:608930
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Pericardial effusion, Sinus bradyc... OMIM:115200
Coronary Arterial Fistula
Aortic valve stenosis, Abnormal heart morphology, Bicuspid aortic valve, Cardiomegaly, Right vent... ORPHA:2041
Charcot-Marie-Tooth Disease, Type 4H
Decreased motor nerve conduction velocity, Peripheral hypomyelination, Onion bulb formation, Decr... OMIM:609311
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Peripheral axonal neuropathy, Neonatal asphyxia, Calf mu... ORPHA:169189
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Limb-girdle muscle weakness, Peroneal muscle atrophy, Limb-girdle muscular dystrophy, Elbow flexi... OMIM:181350
Iatrogenic Botulism
Mydriasis ORPHA:254509
Nathalie Syndrome
Arrhythmia ORPHA:2663
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:619031
Congenital Myopathy 18
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Centrally n... OMIM:620246
Oculopharyngeal Muscular Dystrophy 1
Ragged-red muscle fibers, Facial palsy, Limb muscle weakness OMIM:164300
Myasthenic Syndrome, Congenital, 23, Presynaptic
Fatigable weakness OMIM:618197
Neurotrophic Keratopathy
Abnormal fifth cranial nerve morphology ORPHA:137596
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... OMIM:604559
X-Linked Centronuclear Myopathy
Respiratory failure requiring assisted ventilation, Necklace skeletal muscle fibers, Type 1 fiber... ORPHA:596
Wound Botulism
Mydriasis ORPHA:178475
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Flexion contracture, Hypertrophic cardiomyopathy, Bradycardia OMIM:618815
Leukodystrophy, Hypomyelinating, 18
Failure to thrive, Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Abno... OMIM:618404
Optic Atrophy 16
Paroxysmal tachycardia, Temporal optic disc pallor OMIM:620629
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Muscular dystrophy, Calf muscle hypertrophy, Facial palsy, EMG: myopathic abnormalities, Shoulder... OMIM:606612
Adult-onset autosomal dominant leukodystrophy (ADLD)
Leukodystrophy, Peripheral demyelination DECIPHER:59
Congenital Multicore Myopathy With External Ophthalmoplegia
Internally nucleated skeletal muscle fibers, Muscular dystrophy, Tibialis anterior muscle atrophy... ORPHA:98905
Muscular Dystrophy, Limb-Girdle, Type 1H
Muscular dystrophy, Calf muscle hypertrophy, Centrally nucleated skeletal muscle fibers, Shoulder... OMIM:613530
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Bradycardia, Pulmonic stenosis, Arrhythmia, Abnormal heart morphology, Discordant atr... ORPHA:216694
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Congenital Myopathy 20
Scapular winging, Nemaline bodies, Congenital contracture, Increased variability in muscle fiber ... OMIM:620310
Inhalational Botulism
Mydriasis ORPHA:254504
Congenital Myopathy 5 With Cardiomyopathy
Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Centrally nucleated skel... OMIM:611705
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Facial palsy, Decreased motor nerve conduction velocity, Onion bulb formation, Decreased number o... OMIM:118210
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance OMIM:614807
Hereditary Myopathy With Early Respiratory Failure
Muscle fiber splitting, Internally nucleated skeletal muscle fibers, Necrotizing myopathy, Calf m... ORPHA:178464
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Lower limb amyotrophy, Calf muscle hypertrophy, Wrist flexion contracture, Upper limb amyotrophy,... ORPHA:206549
Inclusion Body Myositis
Inflammatory myopathy, Ragged-red muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Abnorm... ORPHA:611
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Left ventricular hypertrophy, Congestive heart failure, Ventricular hypertrophy, Bradycardia OMIM:619048
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, From... OMIM:162500
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased distal sensory nerve action potential, Onion bulb formation, Decreased number of periph... OMIM:607706
Left Ventricular Noncompaction 10
Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en... OMIM:615396
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Systolic anterior motion of the mitral valve, Reduced left ventricular endsystolic diameter, Left... OMIM:620236
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Motor stereotypy, Aggressive behavior OMIM:239500
Nemaline Myopathy 10
Facial palsy, Nemaline bodies, Congenital contracture, Death in infancy, Respiratory insufficienc... OMIM:616165
Alpha-B Crystallin-Related Late-Onset Myopathy
Accumulation of muscle fiber desmin, Muscle fiber inclusion bodies, Facial diplegia, Autophagic v... ORPHA:399058
Long Qt Syndrome 9
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... OMIM:611818
Muscle Filaminopathy
Muscle fiber splitting, Abnormality of masticatory muscle, Weakness of facial musculature, Respir... ORPHA:171445
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormal motor neuron morphology, Sensory axonal neuropathy, Rimmed vacuoles, EMG: myopathic abno... ORPHA:52430
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated ... OMIM:613642
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Axonal degeneration, Abnormal cranial... OMIM:601596
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
EMG: myopathic abnormalities, Limb muscle weakness, Increased variability in muscle fiber diamete... ORPHA:486815
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Myopathy OMIM:618992
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f... ORPHA:66529
Combined Oxidative Phosphorylation Deficiency 51
Optic atrophy, Respiratory failure, Neonatal respiratory distress OMIM:619057
Amyotrophic Lateral Sclerosis 4, Juvenile
Decreased compound muscle action potential amplitude, Axonal degeneration, Pallor of dorsal colum... OMIM:602433
Merrf
Ragged-red muscle fibers, Optic atrophy, Myopathy ORPHA:551
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Compulsive behaviors, Phonic tics, Unsteady gait, Aggressive behavior OMIM:301107
Cardiomyopathy, Dilated, 1E
Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr... OMIM:601154
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced... OMIM:604772
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma, Histiocytoid cardi... ORPHA:45453
Long Qt Syndrome 13
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... OMIM:613485
Bilateral Acute Depigmentation Of The Iris
Abnormal anterior chamber morphology, Abnormal corneal endothelium morphology, Iris pigment dispe... ORPHA:69736
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Skeletal muscle atrophy ORPHA:247604
Idiopathic/Heritable Pulmonary Arterial Hypertension
Abnormal cardiovascular system physiology, Elevated jugular venous pressure, Pulmonary arterial h... ORPHA:422
Sandhoff Disease, Adult Form
Sensory axonal neuropathy, Tremor, Upper limb muscle weakness, Focal dystonia, Muscle fiber atrop... ORPHA:309169
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Limb hypertonia, Bradycardia, Abnormal autonomic nervous system physiology, Joint ... OMIM:614498
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Flexi... OMIM:618484
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Peripheral axonal neuropathy, Spinal muscular atrophy, Increased variability in muscle fiber diam... OMIM:616867
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Respiratory failure, Peripheral axonal neuropathy, Death in infancy OMIM:611722
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Episodic ataxia OMIM:234500
Cardiomyopathy, Familial Hypertrophic, 27
Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper... OMIM:618052
Mitochondrial Complex I Deficiency, Nuclear Type 13
Cardiac arrest, Hypertrophic cardiomyopathy, Bradycardia OMIM:618235
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Muscle fiber splitting, Calf muscle hypertrophy, Rimmed vacuoles, Scapular winging, Myofibrillar ... OMIM:603689
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti... OMIM:616040
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... OMIM:619464
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity, Truncal obesity, Arrhythmia ORPHA:2928
Long Qt Syndrome 5
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... OMIM:613695
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Limb hypertonia, Perimembranous ventricular septal defect, Optic disc pallor OMIM:619170
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Decreased nerve conduction velo... ORPHA:99939
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:615376
Ullrich Congenital Muscular Dystrophy
Torticollis, Elbow flexion contracture, EMG: myopathic abnormalities, Increased variability in mu... ORPHA:75840
Botulism
Mydriasis ORPHA:1267
Short Qt Syndrome 2
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... OMIM:609621
Charcot-Marie-Tooth Disease, Type 4A
Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity, Basal lam... OMIM:214400
Neuropathy, Congenital Hypomyelinating, 2
Decreased motor nerve conduction velocity, Facial diplegia, Onion bulb formation, Decreased numbe... OMIM:618184
Charcot-Marie-Tooth Disease Type 1A
Demyelinating peripheral neuropathy, Decreased sensory nerve conduction velocity, Acute demyelina... ORPHA:101081
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Distal amyotrophy,... OMIM:618655
Timothy Syndrome
Prolonged QT interval, Cardiomegaly, Bradycardia, Patent foramen ovale, Pulmonary arterial hypert... OMIM:601005
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Respiratory failure, Gliosis, Congenital contracture OMIM:225753
Tick-Borne Encephalitis
Abnormal glossopharyngeal nerve morphology, Abnormal cranial nerve morphology, Polyneuritis, Faci... ORPHA:297
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Bradycardia, Ragged-red muscle fibers, Sensory axonal neuropathy, Cardiomyopathy, EMG: myopathic ... OMIM:609286
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Reduced systolic function OMIM:609909
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Optic atrophy, Peripheral axonal neuropathy, Distal amyotrophy, Tremor, Intention tremor, Flexion... OMIM:616505
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Reduced left ventricular... OMIM:608751
Atrial Standstill 1
Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular escape rhythm, First d... OMIM:108770
Myopathy, Centronuclear, 5
Respiratory insufficiency, Centrally nucleated skeletal muscle fibers, Hip contracture, Weakness ... OMIM:615959
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination ORPHA:401835
Peripartum Cardiomyopathy
Left atrial enlargement, Sinus tachycardia, Hypertension, Left ventricular hypertrophy, Heart mur... ORPHA:563
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Decreased sensory nerve conduction velocity, Decreased number of peripheral myelin... OMIM:609260
Bilateral Polymicrogyria
Facial diplegia, Abnormal glossopharyngeal nerve morphology, Abnormality of masticatory muscle, A... ORPHA:268940
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Foodborne Botulism
Mydriasis ORPHA:228371
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13
Decreased compound muscle action potential amplitude OMIM:619112
Congenital Myopathy 22A, Classic
Normal pressure hydrocephalus, Respiratory insufficiency, Ragged-red muscle fibers, Scapular wing... OMIM:620351
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:612577
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory insufficiency, Respiratory failure, Muscular dystrophy, Death in infancy OMIM:613869
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... OMIM:612240
Long Qt Syndrome 8
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card... OMIM:618447
Zebra Body Myopathy
Muscle fiber splitting, Torticollis, Rimmed vacuoles, Autophagic vacuoles, EMG: myopathic abnorma... ORPHA:97240
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities OMIM:609283
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscular dystrophy, Ankle flexion contracture, Increased variability in muscle fiber diameter, Ce... OMIM:617072
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P... OMIM:614021
Dystonia 31
Abnormal posturing, Leg dystonia, Writer's cramp, Craniofacial dystonia, Arm dystonia, Generalize... OMIM:619565
Progressive Familial Heart Block, Type Ii
Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc... OMIM:140400
Myopathy, Distal, 1
Distal lower limb muscle weakness, Ragged-red muscle fibers, Tibialis anterior muscle atrophy, Am... OMIM:160500
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior, Agitation OMIM:619970
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... OMIM:604400
Atrial Standstill 2
Bradycardia, Cardiomyopathy, Atrial arrhythmia, Dilatation of the ventricular cavity, Absent P wa... OMIM:615745
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Onion bulb formation, Decreased number of peripheral m... OMIM:180800
Muscular Dystrophy, Becker Type
Muscular dystrophy, Calf muscle pseudohypertrophy, Cardiomyopathy, Arrhythmia, Abnormal EKG OMIM:300376
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure, Hand muscle atrophy, Limb muscle weakness OMIM:600561
Cataract 21, Multiple Types
Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, Cerulean cataract, I... OMIM:610202
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Neuropathy, Congenital Hypomyelinating, 3
Hypomimic face, Respiratory insufficiency, Facial diplegia, Decreased motor nerve conduction velo... OMIM:618186
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Cardiomegaly, Myopathy, Ventricular septal hypertroph... OMIM:115197
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril... OMIM:613838
Aniridia 2
Cataract, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Respiratory failure OMIM:616794
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Weakness of facial musculature, Inflammatory myopathy, Respiratory ins... ORPHA:1145
Pulmonary Blastoma
Weight loss ORPHA:64741
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Abnormal motor nerve conduction velocity OMIM:158580
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude, Spa... OMIM:606353
Hereditary Motor And Sensory Neuropathy, Type Iic
Proximal upper limb amyotrophy, Decreased distal sensory nerve action potential, Proximal muscle ... OMIM:606071
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Myositis, Rimmed vacuoles, Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Skel... OMIM:615422
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
First degree atrioventricular block, Right ventricular dilatation, Ventricular tachycardia, Left ... OMIM:615616
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Hurler-Scheie Syndrome
Abnormal heart valve morphology, Cardiomyopathy, Abnormal nerve conduction velocity ORPHA:93476
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Onion bulb formation, Decreased number of peripheral m... OMIM:605588
Infant Botulism
Mydriasis, Keratoconjunctivitis sicca ORPHA:178478
Coats Disease
Leukocoria OMIM:300216
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Bradycardia, Hypertrophic cardiomyopathy, Pericardial effusion, Pap... OMIM:618775
Wild Type Abeta2M Amyloidosis
Congestive heart failure, Gastrointestinal hemorrhage, Decreased nerve conduction velocity, Decre... ORPHA:85446
Miller Fisher Syndrome
Mydriasis, Anisocoria ORPHA:98919
Krabbe Disease
Optic atrophy, Decreased nerve conduction velocity, Abnormal flash visual evoked potentials, CNS ... OMIM:245200
Tetanus
Bradycardia, Hypertension, Abnormal autonomic nervous system physiology, Tachycardia, Autonomic b... ORPHA:3299
Myasthenic Syndrome, Congenital, 12
Facial palsy, Fatigable weakness OMIM:610542
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Muscle fiber splitting, Muscular dystrophy, Decreased compound muscle action potential amplitude,... OMIM:603511
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials OMIM:618912
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Congestive heart failure, Bicuspid aortic valve, Atrioventricular... ORPHA:3092
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure, Tremor, Weakness of facial musculature OMIM:618637
Benign Samaritan Congenital Myopathy
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers ORPHA:324581
Myopathy, Myofibrillar, 8
Central core regions in muscle fibers, Joint contracture of the 5th finger, Scapular winging, Nem... OMIM:617258
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency
Facial palsy, Fatigable weakness OMIM:616325
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Peripheral hypomyelination, Decreased number of large ... OMIM:605285
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Ragged-red muscle fibers, Hypertrophic cardiomyopathy, Abnormal mitochondria in mu... OMIM:252011
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude OMIM:605726
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death OMIM:600919
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure, Gliosis OMIM:618328
Amyotrophic Lateral Sclerosis 5, Juvenile
Distal amyotrophy, Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosi... OMIM:602099
Neuralgic Amyotrophy
Respiratory insufficiency, Scapular winging, Upper limb muscle weakness, Upper limb amyotrophy, A... ORPHA:2901
Myasthenic Syndrome, Congenital, 3B, Fast-Channel
Facial palsy, Fatigable weakness OMIM:616322
Perching Syndrome
Joint contracture, Camptodactyly, Cyanosis OMIM:617055
Arthrogryposis Multiplex Congenita 6
Death in childhood, Nemaline bodies, Death in infancy, Increased variability in muscle fiber diam... OMIM:619334
Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria
Abnormal cranial nerve morphology, Abnormal mitochondria in muscle tissue OMIM:258470
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Distal amyotrophy, Rimmed vacuoles, Scapular winging, Facial palsy, Limb muscle weakness, General... OMIM:167320
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12
Decreased motor nerve conduction velocity OMIM:614751
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular septal hypertrophy, Palpitations, ST segment elevation, Right bundle branch block, Ca... ORPHA:263297
Sick Sinus Syndrome 1
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... OMIM:608567
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Muscle fiber necrosis, Increased variability in muscle fiber diameter, Centrally nucleated skelet... OMIM:620138
Mitochondrial Myopathy, Infantile, Transient
Increased muscle glycogen content, Ragged-red muscle fibers, Facial palsy, Respiratory insufficie... OMIM:500009
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Reduced left ventricular endsysto... OMIM:612124
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Ventricular septal hypertrophy, Left bundle branch ... OMIM:608758
Amyotrophic Lateral Sclerosis 2, Juvenile
Retrocollis, Abnormal upper motor neuron morphology, Distal amyotrophy, Spasticity of facial musc... OMIM:205100
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Muscle fiber splitting, Facial palsy, Limb muscle weakness, Increased variability in muscle fiber... OMIM:616313
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity OMIM:605589
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Reduced left ventricular ejection fraction, Calf muscle ... ORPHA:268
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Right bundle branch block, Abnormal heart morphology, Tetralogy... OMIM:614954
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:118220
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Decreased level of coenzyme Q10 in skeletal muscle, Bradycardia OMIM:614654
Spinocerebellar Ataxia Type 1
Optic atrophy, Abnormal nerve conduction velocity, Abnormality of masticatory muscle, Dystonia, S... ORPHA:98755
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Motor stereotypy, Broad-based gait OMIM:619470
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Hyperactivity, Gait disturbance, Gait ataxia, Dysmetria OMIM:618090
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Vestibular schwannoma OMIM:613641
Carnitine-Acylcarnitine Translocase Deficiency
Bradycardia, Ventricular hypertrophy, Cardiac arrest, Cardiomyopathy, Hypotension, Premature vent... OMIM:212138
Leigh Syndrome
Optic atrophy, Respiratory insufficiency, Gliosis, Dystonia, Respiratory failure OMIM:256000
Posterior Polymorphous Corneal Dystrophy
Astigmatism, Chorioretinal degeneration, Corneal stromal edema, Corneal opacity, Abnormal Desceme... ORPHA:98973
Cednik Syndrome
Optic atrophy, Congestive heart failure, Abnormality of peripheral nerve conduction ORPHA:66631
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Weakness of facial musculature,... OMIM:619542
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Respiratory insufficiency, Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal ... OMIM:619518
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Syncope, P... OMIM:613980
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Ventilator dependence with inability to wean, Spinal muscular atrophy,... ORPHA:254875
Distal Hereditary Motor Neuropathy Type 5
Abnormal motor nerve conduction velocity ORPHA:139536
Charcot-Marie-Tooth Disease, Type 4B3
Decreased nerve conduction velocity, Onion bulb formation, Myelin outfoldings OMIM:615284
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Sick sinus syndrome, Bradycardia, Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Pr... ORPHA:542306
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Congestive heart failure, Abnormal Z disk morphology... OMIM:618654
Severe Congenital Nemaline Myopathy
Abnormality of the diaphragm, Facial diplegia, Facial palsy, Nemaline bodies, Arthrogryposis mult... ORPHA:171430
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Optic disc pallor, Death in infancy OMIM:618240
Combined Oxidative Phosphorylation Deficiency 8
Congestive heart failure, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy... OMIM:614096
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory insufficiency, Respiratory failure, Optic atrophy, Arthrogryposis multiplex congenita OMIM:615330
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity ORPHA:101075
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Metachromatic Leukodystrophy Due To Saposin B Deficiency
CNS demyelination, Decreased nerve conduction velocity, Peripheral demyelination OMIM:249900
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Congenital Myopathy 10B, Mild Variant
Minicore myopathy, Increased endomysial connective tissue, Generalized limb muscle atrophy, Type ... OMIM:620249
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Facial palsy, Decreased distal sensory nerve action potential, Onion bulb formation, Decreased mo... OMIM:607684
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Congestive heart failure, Cardiac arrest, Paroxysmal atrial tachycardia, Atrial se... ORPHA:49827
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Cardiomyopathy, Familial Hypertrophic, 11
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... OMIM:612098
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Atrial Septal Defect, Ostium Secundum Type
Left-to-right shunt, Abnormal mitral valve morphology, Right ventricular dilatation, Supraventric... ORPHA:99103
Dystonia 1, Torsion, Autosomal Dominant
Abnormal posturing, Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Tremor... OMIM:128100
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure, Amyotrophic lateral sclerosis OMIM:613435
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Basal lamina onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Decrea... OMIM:614895
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Decr... OMIM:619279
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat... ORPHA:99106
Wolff-Parkinson-White Syndrome
Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu... OMIM:194200
Long Qt Syndrome 2
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril... OMIM:613688
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Abnormal cardiac septum morphology, Bundle branch block, Arrhythmia ORPHA:1479
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:118200
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Death in childhood, Ragged-red muscle fibers, Facial diplegia, EMG: myopathic abnormalities, Limb... OMIM:609560
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle hypertrophy, Rimmed vacuoles, Scapular winging, EMG: myopathic abnormalities, Hyp... OMIM:300696
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J
Decreased motor nerve conduction velocity OMIM:620111
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Hepatomegaly, Patent foramen ovale, Tricuspid regurgitatio... OMIM:619167
Charcot-Marie-Tooth Disease Type 4A
Demyelinating peripheral neuropathy, Motor conduction block, Decreased nerve conduction velocity,... ORPHA:99948
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ... OMIM:611528
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Camptodactyly, Arrhythmia OMIM:618453
Neovascular Glaucoma
Abnormal anterior chamber morphology, Corneal stromal edema, Rubeosis iridis, Conjunctival hypere... ORPHA:94058
Danon Disease
Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiomegaly, Lower limb amyotrophy, At... OMIM:300257
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal QRS complex, Reduced left ventricular ejection fra... ORPHA:45452
Triosephosphate Isomerase Deficiency
Jaundice, Respiratory insufficiency, Tremor, Death in adolescence, Death in infancy, Prolonged ne... OMIM:615512
Autosomal Recessive Spastic Paraplegia Type 21
Abnormality of peripheral nerve conduction ORPHA:101001
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Heart block, Bundle branch block, Arrhythmia, Syncope ORPHA:871
Catecholaminergic Polymorphic Ventricular Tachycardia
Palpitations, Atrial fibrillation, Supraventricular tachycardia, Ventricular fibrillation, Syncop... ORPHA:3286
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Situs inversus totalis, Cardiomyopathy, Arrhythmia, Atrial septal defect, Ventricu... OMIM:249270
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:600882
Familial Supernumerary Nipples
Supernumerary nipple ORPHA:2456
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Atrophy/Degeneration involving the spinal cord, Respiratory insufficiency, Ragged-red muscle fibe... OMIM:607459
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscular dystrophy, Muscle fiber necrosis, Limb muscle weakness, Limb-girdle muscle weakness, Cen... OMIM:616812
Combined Oxidative Phosphorylation Deficiency 13
Decreased nerve conduction velocity, Leukodystrophy OMIM:614932
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Gliosis, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Skeletal muscle a... OMIM:105550
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Astigmatism, Abnormal pupil morphology, Ocular albinism ORPHA:54
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Athetosis, Ataxia, Self-injurious behavior, Aggressive behavior ORPHA:382
Cardiomyopathy, Dilated, 1G
Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat... OMIM:604145
Naxos Disease
Congestive heart failure, Right ventricular cardiomyopathy, Cardiomegaly, Paroxysmal ventricular ... OMIM:601214
Klippel-Feil Syndrome 3, Autosomal Dominant
Chorioretinal coloboma, Iris coloboma OMIM:613702
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity OMIM:607678
Serotonin Syndrome
Mydriasis ORPHA:43116
Autosomal Recessive Spastic Paraplegia Type 69
Abnormal myelination ORPHA:401830
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity ORPHA:640
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Premature atr... OMIM:611493
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:616437
Long Qt Syndrome 6
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c... OMIM:613693
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Myopathy, Bradycardia, ST segment elevation, Cardiomyopathy, Hypotensio... OMIM:261740
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Type 1 muscle... OMIM:310300
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity OMIM:302801
Woolly Hair
Cataract, Abnormal pupil morphology ORPHA:170
Isaacs Syndrome
EEG abnormality, Weight loss ORPHA:84142
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Congestive heart failure, Abnormal ventriculoarterial connection, Hepatomeg... ORPHA:860
Anterior Segment Dysgenesis 6
Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m... OMIM:617315
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased sensory nerve conduction velocity, Myelin tomacula, Decreased number of peripheral myel... OMIM:145900
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Aids Wasting Syndrome
Cachexia, Weight loss ORPHA:90081
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Gliosis, Absent brainstem auditory responses, Head titubation, Vestibular areflexia, Respiratory ... ORPHA:3240
Long-Olsen-Distelmaier Syndrome
Congestive heart failure, Optic nerve hypoplasia, Secundum atrial septal defect, Severely reduced... OMIM:620609
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ... OMIM:613251
Woolly Hair Nevus
Persistent pupillary membrane, Heterochromia iridis ORPHA:79414
Leber Optic Atrophy
Optic atrophy, Myopathy, Optic neuropathy, Arrhythmia OMIM:535000
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased sensory nerve conduction velocity, Decreased nerve conduction velocity, Interictal epil... OMIM:218000
Glycine Encephalopathy 1
Hyperactivity, Restlessness, Impulsivity, Aggressive behavior OMIM:605899
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Neonatal death, Skeletal muscle atrophy, Paucity of anterior horn ... OMIM:253310
Neuronal Intranuclear Inclusion Disease
Syncope, Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity OMIM:603472
Marinesco-Sjogren Syndrome
Rimmed vacuoles, Centrally nucleated skeletal muscle fibers, Flexion contracture, Skeletal muscle... OMIM:248800
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Death in infancy, Neonatal death, Opisthotonus, Facial paralysis, Resp... OMIM:605711
Hyperekplexia 4
Flexion contracture, Respiratory failure, Distal arthrogryposis, Camptodactyly OMIM:618011
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Deep anterior chamber, Microspherophakia, Megalocornea, Ectopia lentis, Buphthalmos OMIM:251750
Idiopathic Congenital Hypothyroidism
Umbilical hernia, Macroglossia, Bradycardia ORPHA:95717
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, EEG abnormality, Decreased nerve conduction velocity, Abnormal peripheral action p... ORPHA:457205
Autosomal Recessive Spastic Paraplegia Type 67
Abnormal myelination ORPHA:401820
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
X-Linked Charcot-Marie-Tooth Disease Type 3
Demyelinating peripheral neuropathy, Decreased motor nerve conduction velocity ORPHA:101077
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Onion bulb formation, Decreased number of peripheral m... OMIM:604563
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in childhood, Respiratory insufficiency, Death in infancy, Neonatal death, Skeletal muscle ... OMIM:245400
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology, Peripheral axonal neuropathy, Neurogenic bladder, Orthost... OMIM:263570
Atrial Septal Defect, Coronary Sinus Type
Presyncope, Increased pulmonary vascular resistance, Supraventricular arrhythmia, Transient ische... ORPHA:99104
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Congestive heart failure, Muscular dystrophy, Atrial flutter, Heart block, Atrial fibrillation, S... ORPHA:300751
Familial Isolated Dilated Cardiomyopathy
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... ORPHA:154
Glycogen Storage Disease Iv
Bradycardia, Cardiomyopathy, Portal hypertension, Flexion contracture, Skeletal muscle atrophy, A... OMIM:232500
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Tremor, Triceps weakness, Intrinsic hand muscle atrophy, Centrally nucleated skeletal muscle fibe... OMIM:619574
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Rimmed vacuoles, Amyotrophic lateral sclerosis, Muscle fiber inclusion bodies OMIM:615426
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Premature ventricular contraction, Ventricular fibrillation, Syncope, Ventricular... OMIM:614916
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Decreased nerve conduction velocity, Optic disc pallor ORPHA:98890
Hereditary Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal upper limb amyotrophy, Muscular dystrophy, Proximal muscle weakness in upper limbs, Dist... OMIM:601954
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction ORPHA:65684
Charcot-Marie-Tooth Disease Type 4G
Decreased distal sensory nerve action potential, Demyelinating peripheral neuropathy, Decreased m... ORPHA:99953
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Isolated Right Ventricular Hypoplasia
Abnormal atrioventricular conduction, Congestive heart failure, Bidirectional shunt, Muscular ven... ORPHA:439
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Distal amyotrophy, Upper limb muscle weakness, Limb muscle weakness, Fiber type grouping, Angulat... OMIM:608340
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Aganglionic megacolon, Hypertension, Abnormal autonomic nervous system physiology, Flexion contra... OMIM:613870
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... ORPHA:708
Mitochondrial Dna Depletion Syndrome 11
Ragged-red muscle fibers, Facial palsy, Generalized amyotrophy, Proximal amyotrophy, Arrhythmia, ... OMIM:615084
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur... OMIM:61