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

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, Megalocornea, Persistent pupillary membrane OMIM:178900
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Cataract, Phakodonesis, Lens subluxation, Iris hypope... OMIM:177650
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Myasthenic Syndrome, Congenital, 15
Fatigable weakness OMIM:616227
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Facial Spasm
Anisocoria OMIM:134300
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Prolonged miniature endplate currents, Decreased miniature endplate potentials OMIM:616321
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Pelizaeus-Merzbacher disease
Leukodystrophy, Abnormal CNS myelination DECIPHER:38
Intellectual Developmental Disorder, Autosomal Recessive 4
Delayed myelination OMIM:611107
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, I... OMIM:617319
Immunodeficiency 8
Hyperactivity OMIM:615401
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Shoulder girdle muscle atrophy, Increased variability in muscle fiber diameter, EMG: myopathic ab... OMIM:254110
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Respiratory failure requiring assisted ventilation, Low... ORPHA:90117
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Hypertrophic cardiomyopathy, EMG: my... OMIM:601419
Neuronopathy, Distal Hereditary Motor, Type Viib
Abnormal lower motor neuron morphology, Hand muscle atrophy, Lower limb muscle weakness, Hand mus... OMIM:607641
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Microcoria, Iris coloboma OMIM:616428
Anterior Segment Dysgenesis 3
Posterior embryotoxon, Peters anomaly, Abnormal iris vasculature, Ectopia pupillae, Rieger anomal... OMIM:601631
His Bundle Tachycardia
Arrhythmia, Junctional ectopic tachycardia, Cardiomyopathy, Neoplasm of the heart ORPHA:3283
Myasthenic Syndrome, Congenital, 13
Fatigable weakness OMIM:614750
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Foot dorsiflexor weakness, Facial hypotonia, Fatty replac... ORPHA:266
Giant Axonal Neuropathy 2, Autosomal Dominant
Cardiomyopathy, Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral axona... OMIM:610100
Muscular Dystrophy, Congenital, 1B
Achilles tendon contracture, Generalized muscle hypertrophy, Congenital muscular dystrophy, Respi... OMIM:604801
Congenital Arthrogryposis With Anterior Horn Cell Disease
Dystonia, Skeletal muscle atrophy, Respiratory failure, Neonatal death, Paucity of anterior horn ... OMIM:611890
Nemaline Myopathy 8
Nemaline bodies, Flexion contracture, Respiratory failure, Facial palsy, Death in infancy, Myofib... OMIM:615348
Myopathy, Scapulohumeroperoneal
Achilles tendon contracture, Hand muscle atrophy, Nemaline bodies, Foot dorsiflexor weakness, Ske... OMIM:616852
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Ectopia pupillae, Corneal dystrophy OMIM:612868
Insensitivity To Pain With Hyperplastic Myelinopathy
Abnormal peripheral myelination OMIM:147530
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Intellectual Developmental Disorder, Autosomal Recessive 60
Delayed myelination OMIM:617432
Cardiac Conduction Defect
Syncope, Arrhythmia OMIM:115080
Heterochromia Iridis
Heterochromia iridis, Asymmetry of iris pigmentation OMIM:142500
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Atrial Standstill
Left ventricular noncompaction, Right bundle branch block, Mobitz I atrioventricular block, Atria... ORPHA:1344
Benign Schwannoma
Abnormal cranial nerve morphology, Schwannoma, Peripheral Schwannoma, Abnormality of the twelfth ... ORPHA:252164
Myopathy, Centronuclear, 1
Flexion contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Skeletal mus... OMIM:160150
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Resting tremor, Centrally nucleated skeletal muscle fibers, Increased variability in mu... ORPHA:401768
Uveal Melanoma
Zonular cataract, Iris melanoma, Mydriasis, Inferior lens subluxation, Ciliary body melanoma ORPHA:39044
Charcot-Marie-Tooth Disease, Type 4J
Axonal loss, Onion bulb formation, Decreased nerve conduction velocity, Decreased motor nerve con... OMIM:611228
Myasthenic Syndrome, Congenital, 6, Presynaptic
Fatigable weakness, Decreased miniature endplate potentials, Generalized hypotonia due to defect ... OMIM:254210
Glossopharyngeal Neuralgia
Schwannoma, Jaw claudication, Bradycardia, Cranial nerve compression, Syncope, Abnormal glossopha... ORPHA:221098
Cardiomyopathy, Familial Hypertrophic, 11
Hypertrophic cardiomyopathy, Arrhythmia OMIM:612098
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Flexion contracture, Muscular dystrophy, EMG: myopathic abnormalities, Autophagic vacuoles, Respi... OMIM:608423
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Segmental peripheral demyelination/remyelination, Myelin outfoldings, Onion bulb formation, Clust... OMIM:607734
Marcus-Gunn Syndrome
Abnormal heart morphology, Abnormal fifth cranial nerve morphology ORPHA:91412
Atrial Fibrillation, Familial, 18
Palpitations, Bradycardia, Paroxysmal atrial fibrillation, Permanent atrial fibrillation OMIM:617280
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Abnormal motor nerve conduction velocity, Camptodactyly of finger... OMIM:614399
Myopathy, Congenital, With Fiber-Type Disproportion
Reduced forced vital capacity, Respiratory insufficiency, Limb joint contracture, Respiratory ins... OMIM:255310
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Fatigable weakness, Prolonged miniature endplate currents OMIM:601462
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs, Increased endom... OMIM:619733
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Polyneuritis, Peripheral demyelination, Decreased nerve conduction velocity OMIM:162600
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, Weakness of the intrinsic hand muscles, Restrictive ventilatory defect, Abnormality of ... ORPHA:98913
Minicore Myopathy With External Ophthalmoplegia
Minicore myopathy, Nemaline bodies, Skeletal muscle atrophy, Type 1 and type 2 muscle fiber minic... OMIM:255320
Myopathy, Distal, With Rimmed Vacuoles
Foot dorsiflexor weakness, Skeletal muscle atrophy, Facial palsy, Increased variability in muscle... OMIM:617158
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Decre... OMIM:608673
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Salih Myopathy
Flexion contracture, Myopathy, Facial palsy, Centrally nucleated skeletal muscle fibers, Calf mus... OMIM:611705
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Distal lower limb muscle weakness, Foot dorsiflexor weakness, Proximal lower limb amyotrophy, Mus... ORPHA:437572
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Abnormal cranial nerve morphology, Onion bulb formation, Upper limb muscle weakness, Decreased mo... OMIM:605253
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617182
Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors
Fatigable weakness OMIM:254190
Anisocoria
Anisocoria OMIM:106240
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Peripheral demyelination, Arrhythmia ORPHA:99944
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Abnormal motor neuron morp... DECIPHER:29
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in upper limbs, Abnormal lower motor neuron morphology, Skeletal muscle ... OMIM:613954
Myopathy, Distal, 5
Muscle fiber splitting, Myopathy, Distal amyotrophy, Facial palsy, Rimmed vacuoles OMIM:617030
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
Foot dorsiflexor weakness, Limb-girdle muscular dystrophy, Proximal muscle weakness in lower limb... OMIM:615424
Chronic Inflammatory Demyelinating Polyneuropathy
Peripheral demyelination, Segmental peripheral demyelination/remyelination, Abnormal nerve conduc... ORPHA:2932
Triose Phosphate-Isomerase Deficiency
Hypertrophic cardiomyopathy, Decreased nerve conduction velocity ORPHA:868
Romano-Ward Syndrome
Sinus bradycardia, Abnormal T-wave, Torsade de pointes, Sudden cardiac death, Abnormal autonomic ... ORPHA:101016
Autosomal Recessive Spastic Paraplegia Type 57
Abnormal myelination, Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Microcoria, Congenital
Hypoplasia of the iris dilator muscle, Microcoria, Miosis OMIM:156600
Tibial Muscular Dystrophy
Foot dorsiflexor weakness, Proximal muscle weakness in lower limbs, Increased variability in musc... ORPHA:609
Burning Mouth Syndrome
Abnormality of somatosensory evoked potentials, Abnormal fifth cranial nerve morphology ORPHA:353253
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Myopathy, Centronuclear, 2
Flexion contracture, Generalized amyotrophy, EMG: myopathic abnormalities, Respiratory insufficie... OMIM:255200
Leber Hereditary Optic Neuropathy
Ventricular preexcitation, Arrhythmia, Optic atrophy, Myopathy, Retinal telangiectasia ORPHA:104
Myopathy, Myosin Storage, Autosomal Dominant
Shoulder girdle muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, General... OMIM:608358
Gne Myopathy
Lower limb amyotrophy, Foot dorsiflexor weakness, Weakness of long finger extensor muscles, Lower... ORPHA:602
Subacute Inflammatory Demyelinating Polyneuropathy
Abnormality of somatosensory evoked potentials, Axonal loss, Abnormality of the autonomic nervous... ORPHA:206594
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Fatigable weakness, Decreased miniature endplate potentials, Generalized hypotonia due to defect ... OMIM:605809
Slowed Nerve Conduction Velocity, Autosomal Dominant
Peripheral demyelination, Onion bulb formation, Decreased nerve conduction velocity OMIM:608236
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology, Hand muscle atrophy, Segmental spinal muscular atrophy OMIM:183020
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Distal arthrogryposis, Respiratory failure, Arthrogryposis multiplex congenita, Respiratory insuf... OMIM:208081
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Limb-girdle muscle weakness, Generalized amyotrophy, Increased variability in muscle fiber diamet... ORPHA:86812
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Segmental peripheral demye... OMIM:601098
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination ORPHA:401840
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617173
Congenital Myasthenic Syndromes With Glycosylation Defect
Fatigable weakness, Facial palsy, Abnormal peripheral nervous system synaptic transmission, Favor... ORPHA:353327
Long Qt Syndrome 16
Second degree atrioventricular block, Bradycardia, T-wave alternans, Patent ductus arteriosus aft... OMIM:618782
Mitochondrial Myopathy With Diabetes
Ragged-red muscle fibers, EMG: myopathic abnormalities, Proximal amyotrophy, Weakness of orbicula... OMIM:500002
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, Generalized amyotrophy, Increased variability in muscle fiber dia... OMIM:619178
Central Core Disease Of Muscle
Nemaline bodies, Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Ankle f... OMIM:117000
Attrv122I Amyloidosis
Abnormality of enteric nervous system morphology, Reduced ejection fraction, Arrhythmia, Congesti... ORPHA:85451
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Mitral regurgitation, Pulmonic stenosis, Sick sinus syndrome, Atrial fibrillation... OMIM:616201
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Onion bulb formation, Axonal degeneration/regeneration, Decreased number of peripheral myelinated... OMIM:118210
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Muscular dystrophy, Proximal amyotrophy, Atrial fibrillation, Bradycardia OMIM:614302
Spinal Muscular Atrophy, Type I
Proximal muscle weakness in lower limbs, Respiratory failure, Proximal amyotrophy, Death in child... OMIM:253300
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia, Flexion contracture, Abnormal autonomic nervous system physiology, Optic atrophy OMIM:614498
Lethal Congenital Contracture Syndrome 5
Flexion contracture, Decreased nerve conduction velocity, Respiratory insufficiency, Death in inf... OMIM:615368
Null Syndrome
Peripheral demyelination, CNS hypomyelination, Demyelinating peripheral neuropathy, Decreased ner... ORPHA:280234
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Sudden cardiac ... OMIM:601493
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Peripheral axonal degeneration, Tachypnea, Degeneration of anterior horn cells, Axonal degenerati... OMIM:604320
Periventricular Nodular Heterotopia 8
Delayed myelination OMIM:618185
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Attrv30M Amyloidosis
Arrhythmia, Abnormal autonomic nervous system physiology, Cardiomyopathy, Atrioventricular block,... ORPHA:85447
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:605285
Congenital Muscular Dystrophy With Intellectual Disability
Multiple joint contractures, Abnormality of the tongue muscle, Reduced muscle fiber alpha dystrog... ORPHA:370968
Intermediate Nemaline Myopathy
Nemaline bodies, Flexion contracture, Skeletal muscle atrophy, Respiratory failure, EMG: myopathi... ORPHA:171433
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypoplastic left heart, Hypertrophic cardiomyopathy, Patent ductus arteriosus OMIM:616276
Iridocorneal Endothelial Syndrome
Polycoria, Central heterochromia, Anterior synechiae of the anterior chamber, Heterochromia iridi... ORPHA:64734
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane ORPHA:1067
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Vacuolar Neuromyopathy
Foot dorsiflexor weakness, Muscle fiber splitting, Muscular dystrophy, Shoulder girdle muscle wea... OMIM:601846
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Sudden cardiac death, Ventricular arrhythmia, Syncope, Palpitations, Right ventricular cardiomyop... OMIM:610476
Tubular Aggregate Myopathy
Type 2 muscle fiber atrophy, Increased variability in muscle fiber diameter, EMG: myopathic abnor... ORPHA:2593
Lethal Congenital Contracture Syndrome 3
Multiple joint contractures, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Neonata... OMIM:611369
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... OMIM:616117
Ethanolaminosis
Cardiomegaly OMIM:227150
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Abnormal sensory nerve conduction velocity, Intrinsic ha... ORPHA:276435
Myopathy, Congenital Proximal, With Minicore Lesions
Minicore myopathy, Type 1 muscle fiber predominance, Obstructive sleep apnea, Z-band streaming, C... OMIM:618823
Myasthenic Syndrome, Congenital, 5
Prolonged miniature endplate currents, Fatigable weakness OMIM:603034
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Hereditary Myopathy With Early Respiratory Failure
Muscle fiber hypertrophy, Restrictive ventilatory defect, Foot dorsiflexor weakness, Skeletal mus... ORPHA:178464
Intestinal Botulism
Mydriasis ORPHA:178481
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity OMIM:617796
Autosomal Recessive Centronuclear Myopathy
Left ventricular hypertrophy, Scapular winging, Generalized amyotrophy, Respiratory insufficiency... ORPHA:169186
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death OMIM:107970
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Syncope, Ventricular tachycardia OMIM:611938
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Failure to thrive in infancy, Decreased number of large peripheral myelinated nerve fibers, Decre... ORPHA:90103
Myopathy, Myofibrillar, 5
Muscle fiber splitting, Abnormal peripheral nervous system morphology, Respiratory insufficiency,... OMIM:609524
Atrial Septal Defect 6
Atrial septal defect, Atrial fibrillation, Bradycardia OMIM:613087
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electrophysiol... ORPHA:168796
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Facial palsy, Decreased miniature endplate potentials OMIM:608930
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity, Irr... OMIM:601382
Arnold-Chiari Malformation Type I
Abnormality of the musculature of the lower limbs, Abnormality of the twelfth cranial nerve, Cran... ORPHA:268882
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Respiratory failure requiring assisted ventilation, Pneumonia, R... ORPHA:596
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Cardiac arrest, Endocardial fibroelastosi... OMIM:612158
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Familial Short Qt Syndrome
Ventricular fibrillation, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, At... ORPHA:51083
Myopathy, Myosin Storage, Autosomal Recessive
Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Respi... OMIM:255160
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Abnormal lower motor neuron morphology, Scapuloperoneal amyotrophy, Respiratory insufficiency due... OMIM:611067
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Lower limb muscle weakness, Respiratory failure, Respirat... ORPHA:2590
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Myocardial fibrosis OMIM:617222
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Motor Neuropathy, Peripheral, With Dysautonomia
Orthostatic hypotension, Peripheral demyelination, Achalasia, Abnormal autonomic nervous system p... OMIM:252320
Loeffler Endocarditis
T-wave inversion, Right bundle branch block, Abnormal cardiomyocyte morphology, Endocardial fibro... ORPHA:75566
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Delayed myelination OMIM:618339
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Deep anterior chamber, Microspherophakia, Megalocornea, Ectopia lentis OMIM:251750
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis ORPHA:247815
Pontocerebellar Hypoplasia, Type 1C
Flexion contracture, Skeletal muscle atrophy, Respiratory failure, Respiratory insufficiency, Spi... OMIM:616081
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Onion bulb formation, Axonal degeneration/regeneration, Decreased number of peripheral myelinated... OMIM:605588
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Aspiration, Increased variability in muscle fiber diamete... OMIM:606070
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Muscle fiber hypertrophy, Nemaline bodies, Pneumonia, Fle... ORPHA:98905
Wild Type Attr Amyloidosis
Arrhythmia, Autonomic bladder dysfunction, Congestive heart failure, Abnormal EKG, Hypertrophic c... ORPHA:330001
Weill-Marchesani Syndrome 4
Phakodonesis, Ectopia lentis, Iridodonesis OMIM:613195
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Dysmetria, Inability to walk, Gait disturbance OMIM:618090
Long Qt Syndrome 15
Ventricular fibrillation, Cardiac arrest, Prolonged QT interval, Bradycardia, Prolonged QTc interval OMIM:616249
Charcot-Marie-Tooth Disease, Type 4H
Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral hypomyelination, Decr... OMIM:609311
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Ventricular arr... OMIM:613424
Iatrogenic Botulism
Mydriasis ORPHA:254509
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Polymorphous posterior corneal dystrophy, Anterior synechiae of the anterior ch... OMIM:122000
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, From... OMIM:162500
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Onion bulb formation, Decreased sensory nerve conduction velocity, Decreased number of peripheral... OMIM:609260
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Leg muscle stiffness, Peripheral axonal neuropathy, Cardiomyopathy, Distal lower limb muscle weak... ORPHA:320360
Nemaline Myopathy 1
Nemaline bodies, Flexion contracture, Shoulder girdle muscle atrophy, EMG: myopathic abnormalitie... OMIM:609284
Myasthenic Syndrome, Congenital, 12
Fatigable weakness, Facial palsy OMIM:610542
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Congestive heart failure, Left ventricular noncompaction cardiomy... OMIM:604169
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Proximal muscle weakness in upper limbs, Increased variability in muscle fiber diameter, Hamstrin... ORPHA:206549
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity OMIM:615493
Adult-onset autosomal dominant leukodystrophy (ADLD)
Leukodystrophy, Peripheral demyelination DECIPHER:59
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Weakness of muscles of respiration, Sensory axonal neuropathy, Fatty replacement of skeletal musc... ORPHA:52430
Wound Botulism
Mydriasis ORPHA:178475
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Flexion contracture, Muscle fiber splitting, Muscular dystrophy, Dyspnea, Facial palsy, Rimmed va... OMIM:603511
Leukodystrophy, Hypomyelinating, 18
Failure to thrive, Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Abno... OMIM:618404
Nathalie Syndrome
Arrhythmia ORPHA:2663
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Second degree atrioventricular block, Sinus bradycardia, Atrial flutter, ... OMIM:115200
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction, Abnormal left ventricle morphology, Abnor... OMIM:615373
Cardiomyopathy, Familial Hypertrophic, 6
Ventricular preexcitation, Sinus bradycardia, Wolff-Parkinson-White syndrome, Hypertrophic cardio... OMIM:600858
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Achilles tendon contracture, Pelvic girdle muscle weakness, Foot dorsiflexor weakness, Myofibrill... OMIM:603689
Roussy-Levy Hereditary Areflexic Dystasia
Hypertrophic nerve changes, Segmental peripheral demyelination/remyelination, Onion bulb formatio... OMIM:180800
Alpha-B Crystallin-Related Late-Onset Myopathy
Foot dorsiflexor weakness, Limb-girdle muscle weakness, Increased variability in muscle fiber dia... ORPHA:399058
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Bradycardia, Left ventricular hypertrophy, Congestive heart failure, Ventricular hypertrophy OMIM:619048
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Inhalational Botulism
Mydriasis ORPHA:254504
Inclusion Body Myositis
Inflammatory myopathy, Skeletal muscle atrophy, Ragged-red muscle fibers, Quadriceps muscle weakn... ORPHA:611
Merrf
Ragged-red muscle fibers, Myopathy, Optic atrophy ORPHA:551
Van Den Bosch Syndrome
Unfavorable response of muscle weakness to acetylcholine esterase inhibitors ORPHA:3417
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Peripheral axonal neuropathy, Central apnea, Respiratory insufficiency, Deat... OMIM:611722
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Decreased nerve conduction velocity, Demyelinating motor neuropathy, Peripheral axonal neuropathy... ORPHA:99939
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Bradycardia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Flexion contracture OMIM:618815
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Pelvic girdle amyotrophy, Dystonia, Scapular winging, Shoulder girdle muscle atrophy, Limb muscle... OMIM:167320
Progressive Familial Heart Block, Type Ib
Shortened PR interval, Arrhythmia, Left anterior fascicular block, Right bundle branch block, Syn... OMIM:604559
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Restrictive ventilatory defect, Flexion contracture, Arthrogryposis multiplex congenita, Weakness... OMIM:618484
Muscular Dystrophy, Limb-Girdle, Type 1H
Shoulder girdle muscle atrophy, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, C... OMIM:613530
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Acute demyelinating polyneuropathy, Demyelinating peri... ORPHA:101081
Scapuloperoneal Myopathy, X-Linked Dominant
Foot dorsiflexor weakness, Flexion contracture, Scapular winging, Arrhythmia, Skeletal muscle atr... OMIM:300695
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Aspiration pneumonia, Respiratory failure, Optic atrophy OMIM:619057
Sick Sinus Syndrome 2
Sinus bradycardia, Ventricular fibrillation, Left ventricular noncompaction, Cardiac arrest, Aort... OMIM:163800
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Muscular Dystrophy, Congenital, Merosin-Positive
Flexion contracture, Congenital muscular dystrophy, Increased variability in muscle fiber diamete... OMIM:609456
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Achilles tendon contracture, Dilated cardiomyopathy, Decreased cervical spine flexion due to cont... OMIM:181350
Charcot-Marie-Tooth Disease, Type 4A
Peripheral axonal degeneration, CNS hypomyelination, Hypertrophic nerve changes, Axonal degenerat... OMIM:214400
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity, Arrhythmia, Truncal obesity ORPHA:2928
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Minicore myopathy, Multiple joint contractures, Increased variability in muscle fiber diameter, E... ORPHA:486815
Amyotrophic Lateral Sclerosis 4, Juvenile
Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Diffuse axonal swelling, ... OMIM:602433
Myopathy, X-Linked, With Postural Muscle Atrophy
Flexion contracture, Scapular winging, Arrhythmia, Hypertrophic cardiomyopathy, Rimmed vacuoles OMIM:300696
Neurotrophic Keratopathy
Abnormal fifth cranial nerve morphology ORPHA:137596
Iris Hypoplasia With Glaucoma
Iris atrophy, Hypoplasia of the iris OMIM:308500
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Hypertrophic nerve changes, Segmental peripheral demyelination/remyelination, Myelin outfoldings,... OMIM:118220
Cataract 21, Multiple Types
Microcornea, Iris coloboma, Cortical pulverulent cataract, Cerulean cataract OMIM:610202
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
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Respiratory insufficiency due to muscle weakness, Muscular dystrophy, Centrally nucleated skeleta... OMIM:617066
Benign Samaritan Congenital Myopathy
Abnormal respiratory system physiology, Centrally nucleated skeletal muscle fibers, Internally nu... ORPHA:324581
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia OMIM:167400
Nemaline Myopathy 4
Nemaline bodies, Flexion contracture, Scapular winging, Skeletal muscle atrophy, Limb muscle weak... OMIM:609285
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Amyotrophic later... OMIM:614373
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Abnormal aortic valve cusp morphology, Third degree atrioventricular block, Dextrocar... ORPHA:216694
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Axonal degeneration/regeneration, Decreased motor nerve conduction velocity, Onion bulb formation... OMIM:607706
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination ORPHA:401835
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory insufficiency ... OMIM:602099
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Axonal degeneration/regeneration, Decreased motor nerve conduction velocity, Peripheral axonal at... OMIM:600882
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Abnormal anterior chamber morphology, Iris pigment dispersion, Abnorm... ORPHA:69736
Tako-Tsubo Cardiomyopathy
T-wave inversion, Atrial fibrillation, Hypertension, Low-output congestive heart failure, Mitral ... ORPHA:66529
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Skeletal muscle atrophy ORPHA:247604
Nonaka Myopathy
Deposits immunoreactive to beta-amyloid protein, EMG: myopathic abnormalities, Distal amyotrophy,... OMIM:605820
Myopathy, Distal, 1
Amyotrophy of ankle musculature, Weakness of long finger extensor muscles, Ragged-red muscle fibe... OMIM:160500
Spinal Muscular Atrophy, X-Linked 2
Flexion contracture, Multiple joint contractures, Degeneration of anterior horn cells, Respirator... OMIM:301830
Myopathy, Myofibrillar, 8
Achilles tendon contracture, Restrictive ventilatory defect, Nemaline bodies, Generalized amyotro... OMIM:617258
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:615376
Pontocerebellar Hypoplasia, Type 4
Gliosis, Death in infancy, Respiratory failure, Congenital contracture OMIM:225753
Motor Neuron Disease With Dementia And Ophthalmoplegia
Respiratory insufficiency, Respiratory failure, Degeneration of anterior horn cells, Astrocytosis OMIM:600333
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Optic atrophy, Arrhythmia OMIM:614702
Infantile-Onset X-Linked Spinal Muscular Atrophy
Inflammatory myopathy, Elbow flexion contracture, Skeletal muscle atrophy, Degeneration of anteri... ORPHA:1145
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti... OMIM:616040
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Basal lamina onion bulb formation, Decreased number of large peripheral myelinated nerve fibers, ... OMIM:614895
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal lower motor neuron morphology, Hand muscle atrophy, Dystonia, Distal amyotrophy, Spastic... OMIM:205100
Botulism
Mydriasis ORPHA:1267
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia, Left ventricular hypertrophy OMIM:614654
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Dilated cardiomyopathy, Paroxysmal atrial fibrillation, Reduced systolic funct... OMIM:604772
Wild Type Abeta2M Amyloidosis
Axonal loss, Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure, Decreased amplitu... ORPHA:85446
Charcot-Marie-Tooth Disease, Type 4D
Axonal loss, Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased ne... OMIM:601455
Short Qt Syndrome 2
Ventricular fibrillation, Bradycardia, Sudden cardiac death, Atrial fibrillation, Syncope, Shorte... OMIM:609621
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Sensory axonal neuropathy, Arrhythmia, Ragged-red muscle fibers, EMG: myopathic abnormalities, Li... OMIM:609286
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Abnormal cranial nerve morphology, Decreased number of large peri... OMIM:601596
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Difficulty walking, Ataxia, Attention deficit hyperactivity disorder OMIM:619191
Long-Thumb Brachydactyly Syndrome
Arrhythmia OMIM:112430
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Histiocytoid cardiomyopathy, Wolff-Parkinson-White syndr... ORPHA:45453
Zebra Body Myopathy
Nemaline bodies, Limb-girdle muscular dystrophy, Muscle fiber splitting, Muscle fiber necrosis, E... ORPHA:97240
Timothy Syndrome
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Prolonged QT interval, Ventr... OMIM:601005
Cardiomyopathy, Dilated, 1E
Atrial standstill, Dilated cardiomyopathy, Reduced systolic function, Atrial flutter, Premature v... OMIM:601154
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Flexion contracture, Respiratory failure, Muscular dystrophy, Respiratory insufficiency, Apnea OMIM:613869
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Tick-Borne Encephalitis
Abnormal myocardium morphology, Abnormal cranial nerve morphology, Skeletal muscle atrophy, Abnor... ORPHA:297
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs, Abnormality of ... ORPHA:169189
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Facial palsy, EMG: myopathic abnormalities, Ragged-red muscle fibers OMIM:609283
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Peripheral demyelination, Hypertrophic nerve changes, Myelin outfoldings, Onion bulb formation, D... OMIM:118200
Mitochondrial Myopathy, Infantile, Transient
Muscle fiber hypertrophy, Ragged-red muscle fibers, Increased muscle lipid content, Macroglossia,... OMIM:500009
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Foodborne Botulism
Mydriasis ORPHA:228371
Krabbe Disease
EEG abnormality, Peripheral demyelination, Decreased nerve conduction velocity, Failure to thrive... OMIM:245200
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Flexion contracture, Skeletal muscle atrophy, Respiratory failure, Respiratory insufficiency due ... OMIM:618291
Neuronopathy, Distal Hereditary Motor, Type Vc
Decreased compound muscle action potential amplitude OMIM:619112
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Death in infancy, Respiratory failure, Optic atrophy OMIM:614299
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Foot dorsiflexor weakness, Increased variability in muscle fiber diameter, Type 1 muscle fiber pr... OMIM:618655
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Charcot-Marie-Tooth Disease Type 1B
Peripheral axonal neuropathy, Peripheral dysmyelination, Decreased nerve conduction velocity ORPHA:101082
Congenital Muscular Dystrophy, Ullrich Type
Flexion contracture, Increased endomysial connective tissue, Respiratory failure, EMG: myopathic ... ORPHA:75840
Hereditary Motor And Sensory Neuropathy, Type Iic
Hand muscle atrophy, Foot dorsiflexor weakness, Shoulder girdle muscle atrophy, Respiratory failu... OMIM:606071
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Myositis, Skeletal muscle atrophy, Myopathy, Rimmed vacuoles, Muscle fiber atrophy, Centrally nuc... OMIM:615422
Bilateral Polymicrogyria
Facial diplegia, Abnormality of masticatory muscle, Arthrogryposis multiplex congenita, Abnormal ... ORPHA:268940
Atrial Standstill 2
Atrial standstill, Atrial cardiomyopathy, Bradycardia, Atrial arrhythmia, Dilatation of the ventr... OMIM:615745
Myasthenic Syndrome, Congenital, 10
Fatigable weakness, Facial palsy OMIM:254300
Atrial Standstill 1
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Endocardial fibroelasto... OMIM:108770
Muscular Dystrophy, Becker Type
Arrhythmia, Abnormal EKG, Muscular dystrophy, Cardiomyopathy, Calf muscle pseudohypertrophy OMIM:300376
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Right ventricular dilatation, Atrial flutter, Systolic heart murmur... ORPHA:99105
Myasthenic Syndrome, Congenital, 16
Fatigable weakness OMIM:614198
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Axonal loss, Flexion contracture, Skeletal muscle atrophy, Respiratory failure, Increased variabi... OMIM:616867
Brugada Syndrome
ST segment elevation, Ventricular fibrillation, Cardiac arrest, Paroxysmal ventricular tachycardi... ORPHA:130
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy
Decreased amplitude of sensory action potentials, Decreased motor nerve conduction velocity OMIM:618912
Myopathy, Myofibrillar, 6
Axonal loss, Generalized amyotrophy, Reduced forced vital capacity, Muscular dystrophy, Respirato... OMIM:612954
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Recurrent pneumonia, Skeletal muscle atrophy, Respiratory failure, Respiratory insufficiency due ... ORPHA:254875
Metachromatic Leukodystrophy Due To Saposin B Deficiency
CNS demyelination, Peripheral demyelination, Decreased nerve conduction velocity OMIM:249900
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Flexion contracture, Intention tremor, Respiratory failure, Cerebellar gliosis, Peripheral axonal... OMIM:616505
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular fibrillation, Cardiac arrest, Hypertrophic cardiomyopathy, Right bundle branch block,... OMIM:115197
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Hand muscle atrophy, Respiratory failure, Limb muscle weakness OMIM:600561
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory insufficiency, Respiratory failure, Optic atrophy, Arthrogryposis multiplex congenita OMIM:615330
Cardiomyopathy, Familial Hypertrophic, 1
Subvalvular aortic stenosis, Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Reduced forced vital capacity, Skeletal muscle autophagosome accumulation, Respiratory insufficie... OMIM:619518
Long Qt Syndrome 14
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, T-wave alternans, Prolonged QT inter... OMIM:616247
Tetanus
Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Hypertension, Bradyc... ORPHA:3299
Spinocerebellar Ataxia Type 1
Abnormality of somatosensory evoked potentials, Dystonia, Abnormality of masticatory muscle, Skel... ORPHA:98755
Long Qt Syndrome 8
Sinus bradycardia, Ventricular fibrillation, Sudden cardiac death, Syncope, Prolonged QTc interva... OMIM:618447
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Left ventricular noncompaction, Flexion contracture, Ragged-red muscle fi... OMIM:252011
Neuronopathy, Distal Hereditary Motor, Type Vb
Decreased motor nerve conduction velocity OMIM:614751
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Papilledema, Ventricular septal defect, Bradycardia, Persistent feta... OMIM:618775
Leigh Syndrome
Dystonia, Respiratory failure, Abnormal pattern of respiration, Gliosis, Respiratory insufficienc... OMIM:256000
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Respiratory failure OMIM:616794
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly, Optic disc pallor, Limb hypertonia OMIM:619170
Infant Botulism
Keratoconjunctivitis sicca, Mydriasis ORPHA:178478
Sick Sinus Syndrome 4
Abnormal QT interval, Sinus bradycardia, Paroxysmal atrial fibrillation, Chronotropic incompetenc... OMIM:619464
Cednik Syndrome
Optic atrophy, Abnormality of peripheral nerve conduction, Congestive heart failure ORPHA:66631
Progressive Familial Heart Block, Type Ii
Sinus bradycardia, Complete heart block with narrow QRS complexes, Sudden cardiac death, Atrioven... OMIM:140400
Dystonia 31
Generalized dystonia, Leg dystonia, Craniofacial dystonia, Abnormal posturing, Writer's cramp, Ar... OMIM:619565
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers OMIM:614807
Coronary Arterial Fistula
Right ventricular dilatation, Continuous heart murmur, Elevated jugular venous pressure, Patent f... ORPHA:2041
Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria
Abnormal cranial nerve morphology, Abnormal mitochondria in muscle tissue OMIM:258470
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity, Cardiomyopathy, Abnormal heart valve morphology ORPHA:93476
Pontocerebellar Hypoplasia, Type 1A
Basal ganglia gliosis, Degeneration of anterior horn cells, Respiratory insufficiency, Spinal mus... OMIM:607596
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory insufficiency due to muscle weakness, Myopathy, Respiratory distress, Type 1 fibers r... OMIM:300580
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure, Weakness of facial musculature, Tremor OMIM:618637
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Flexion limitation of toes, Proxi... OMIM:609115
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Restrictive ventilatory defect, Ragged-red muscle fibers... ORPHA:457050
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Sensory axonal neuropathy, EEG abnormality, Abnormal peripheral action potential amplitude, Decre... ORPHA:457205
Cardiomyopathy, Familial Hypertrophic, 8
Ventricular fibrillation, Cardiac arrest, Congestive heart failure, T-wave inversion, Hypertrophi... OMIM:608751
Coats Disease
Leukocoria OMIM:300216
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Increased variability in muscle fiber diameter, Respiratory failure, Death in ch... OMIM:619334
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity OMIM:605589
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia, Paroxysmal ventricular tachyca... OMIM:614021
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Premature ventricular contraction, Congestive heart failure, Sudden card... OMIM:604400
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Atrial fibrilla... OMIM:601494
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Cardiomyopathy, Arrhythmia, Mitral valve prolapse OMIM:614676
Pulmonary Blastoma
Weight loss ORPHA:64741
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Myotubular Myopathy With Abnormal Genital Development
Atelectasis, Myopathy, Respiratory distress, Neonatal death, Death in infancy, Centrally nucleate... OMIM:300219
Hypertrophic Neuropathy Of Dejerine-Sottas
Hypertrophic nerve changes, Segmental peripheral demyelination/remyelination, Onion bulb formatio... OMIM:145900
Aniridia 2
Cataract, Aniridia OMIM:617141
Muscular Dystrophy, Progressive Pectorodorsal
Muscular dystrophy, Scapular winging, Shoulder girdle muscle weakness, Arrhythmia OMIM:310095
Charcot-Marie-Tooth Disease, Type 4B3
Onion bulb formation, Decreased nerve conduction velocity OMIM:615284
Griscelli Syndrome Type 3
Iris hypopigmentation ORPHA:79478
Monomelic Amyotrophy
Degeneration of anterior horn cells, Abnormality of peripheral nerve conduction ORPHA:65684
Neuralgic Amyotrophy
Acrocyanosis, Scapular winging, Respiratory insufficiency ORPHA:2901
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Axonal regeneration, Decreased motor nerve conduction velocity, Decreased number of peripheral my... OMIM:607831
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Aortic regurgitation, Systolic heart murmur, Congestive heart fai... ORPHA:3092
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Sudden cardiac death, Atrial fibrillation, Prolonged QT interval, Syncope OMIM:600919
Myopathy, Centronuclear, X-Linked
Respiratory failure requiring assisted ventilation, Flexion contracture, Respiratory failure, Dia... OMIM:310400
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Right ventricular dilatation, Reduced ejection fraction, A... ORPHA:217607
Carnitine-Acylcarnitine Translocase Deficiency
Rhabdomyolysis, Cardiac arrest, Ventricular tachycardia, Premature ventricular contraction, Hypot... OMIM:212138
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Pro... OMIM:613485
Charcot-Marie-Tooth Disease Type 4A
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Demyelin... ORPHA:99948
Charcot-Marie-Tooth Disease, Axonal, Type 2O
Decreased motor nerve conduction velocity OMIM:614228
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Foot dorsiflexor weakness, Intrinsic hand muscle atrophy, Stridor, Triceps weakness, Centrally nu... OMIM:619574
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular tachycardia, T-wave inversion, Ventricular arrhythmia, Prolonged QRS complex, Syncope... OMIM:611528
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular arrhythmia, Congestive hea... OMIM:600884
Charcot-Marie-Tooth Disease Type 4G
Peripheral demyelination, Demyelinating peripheral neuropathy, Motor conduction block, Decreased ... ORPHA:99953
Severe Congenital Nemaline Myopathy
Nemaline bodies, Flexion contracture, Skeletal muscle atrophy, Abnormality of the diaphragm, Resp... ORPHA:171430
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Congestive heart failure, Atrial septal defect, Ventricular septal defect, Optic ... ORPHA:49827
Congenital Heart Defects, Multiple Types, 3
Tetralogy of Fallot, Atrial septal defect, Right bundle branch block, Abnormal heart morphology, ... OMIM:614954
Sick Sinus Syndrome 1
Sinus bradycardia, Sick sinus syndrome, Absent P wave, Prolonged QT interval, Atrioventricular bl... OMIM:608567
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Reduced ejection fraction, Lower limb muscle weakness, P... ORPHA:268
King-Denborough Syndrome
Minicore myopathy, Type 1 muscle fiber predominance, Weakness of facial musculature, Muscle fiber... OMIM:619542
Cardiomyopathy, Familial Hypertrophic, 10
Ventricular fibrillation, Ventricular tachycardia, T-wave inversion, Hypertrophic cardiomyopathy,... OMIM:608758
Charcot-Marie-Tooth Disease Type 2B1
Axonal loss, Sensory axonal neuropathy, Decreased number of large peripheral myelinated nerve fib... ORPHA:98856
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Ragged-red muscle fibers, Generalized amyotrophy, EMG: myopathic abnormalities, Limb muscle weakn... OMIM:609560
Distal Hereditary Motor Neuropathy Type 5
Abnormal motor nerve conduction velocity ORPHA:139536
Triosephosphate Isomerase Deficiency
Dystonia, Skeletal muscle atrophy, Death in adolescence, Respiratory failure, Jaundice, Respirato... OMIM:615512
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Angulated muscle fibers, Weakness of facial musculature, Aspiration pneumonia, Scapular winging, ... OMIM:619477
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Minicore myopathy, Congenital muscular dystrophy, Proxim... ORPHA:598
Posterior Polymorphous Corneal Dystrophy
Anterior synechiae of the anterior chamber, Increased corneal curvature, Uveal ectropion, Abnorma... ORPHA:98973
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity ORPHA:101075
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly, Congestive heart failure, Increased variability in muscle fiber diameter, Type 1 mu... OMIM:618654
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Foot dorsiflexor weakness, Ventricular fibrillation, Ventricular tachycardi... ORPHA:263297
Parkinsonism With Polyneuropathy
Decreased amplitude of sensory action potentials, Decreased motor nerve conduction velocity, Decr... OMIM:619279
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Distal Myopathy, Welander Type
Foot dorsiflexor weakness, Weakness of long finger extensor muscles, Intrinsic hand muscle atroph... ORPHA:603
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity ORPHA:640
Childhood-Onset Nemaline Myopathy
Nemaline bodies, Scapular winging, Flexion contracture, Increased variability in muscle fiber dia... ORPHA:171439
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Sensory axonal neuropathy, Skeletal muscle atrophy, Muscle fiber necrosis, Ragged-red muscle fibe... OMIM:607459
Combined Oxidative Phosphorylation Deficiency 13
Leukodystrophy, Decreased nerve conduction velocity OMIM:614932
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onio... OMIM:604563
Tuberculosis
Weight loss ORPHA:3389
X-Linked Charcot-Marie-Tooth Disease Type 3
Peripheral axonal neuropathy, Decreased motor nerve conduction velocity, Demyelinating peripheral... ORPHA:101077
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Camptodactyly, Arrhythmia OMIM:618453
Hyperprolinemia, Type I
Hyperactivity, Ataxia OMIM:239500
Brugada Syndrome 1
Ventricular fibrillation, Cardiac arrest, Atrial flutter, Sudden cardiac death, Right bundle bran... OMIM:601144
Cholesterol Pneumonia
Cyanosis, Pneumonia, Tachypnea, Cough, Death in infancy OMIM:215030
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Prolonged PR interval, Patent foramen ovale, Arrhythmia, Sick sinus syndrome, Bradycardia, Ventri... ORPHA:542306
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Head tremor, Abnormal motor neuron morphology, Intention tremor OMIM:613724
Mitochondrial Dna Depletion Syndrome 11
Dilated cardiomyopathy, Arrhythmia, Generalized amyotrophy, Proximal amyotrophy, Facial palsy OMIM:615084
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Myopathy, Respiratory distress ORPHA:91130
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity OMIM:607678
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Peripheral axonal neuropathy, Decreased motor nerve conduction velocity OMIM:613287
Thiamine-Responsive Megaloblastic Anemia Syndrome
Arrhythmia, Atrial septal defect, Situs inversus totalis, Cardiomyopathy, Ventricular septal defe... OMIM:249270
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Respiratory failure OMIM:301021
Wolff-Parkinson-White Syndrome
Ventricular preexcitation, Paroxysmal atrial fibrillation, Atrial flutter, Shortened PR interval,... OMIM:194200
Neuronal Intranuclear Inclusion Disease
Syncope, Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity OMIM:603472
Nemaline Myopathy 2
Nemaline bodies, Flexion contracture, Sternocleidomastoid amyotrophy, Foot dorsiflexor weakness, ... OMIM:256030
Macular Degeneration, Age-Related, 3
Peripheral axonal neuropathy, Decreased nerve conduction velocity OMIM:608895
Glycogen Storage Disease Of Heart, Lethal Congenital
Shortened PR interval, Congestive heart failure, Biventricular hypertrophy, Hypotension, Macroglo... OMIM:261740
Chiari Malformation Type Ii
Cyanosis, Myelomeningocele, Opisthotonus, Syringomyelia, Limb muscle weakness, Spina bifida, Insp... OMIM:207950
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity OMIM:302801
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Cardiomyopathy, Proximal amyotrophy, Arrhythmia OMIM:612999
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Astigmatism, Ocular albinism, Iris hypopigmentation ORPHA:54
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Keratoconus OMIM:614303
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology ORPHA:1479
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Autosomal Recessive Spastic Paraplegia Type 69
Abnormal myelination ORPHA:401830
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Abnormal left ventricular function, Abnormal EKG, Abnormal... ORPHA:45452
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in upper limbs, Foot dorsiflexor weakness, Proximal muscle weakness in l... OMIM:601954
Neuropathy, Congenital Hypomyelinating, 2
Decreased motor nerve conduction velocity, Facial diplegia OMIM:618184
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Right ventricular dilatation, Ventricular tachycardia, Premature ventricular contraction, Left bu... OMIM:618920
Marinesco-Sjogren Syndrome
Flexion contracture, Skeletal muscle atrophy, Myopathy, Rimmed vacuoles, Centrally nucleated skel... OMIM:248800
Serotonin Syndrome
Mydriasis ORPHA:43116
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Abnormal respiratory system physiology, Skeletal muscle atrophy, Respirator... ORPHA:803
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies OMIM:615426
Autosomal Recessive Spastic Paraplegia Type 21
Abnormality of peripheral nerve conduction ORPHA:101001
Leukodystrophy, Hypomyelinating, 2
Sensory axonal neuropathy, Demyelinating motor neuropathy, Leukodystrophy, Decreased motor nerve ... OMIM:608804
Riboflavin Transporter Deficiency
Abnormal cranial nerve morphology, Skeletal muscle atrophy, Sleep apnea, Abnormal autonomic nervo... ORPHA:97229
3-Methylglutaconic Aciduria, Type Viii
Bradycardia OMIM:617248
Proximal Spinal Muscular Atrophy
Distal lower limb muscle weakness, Restrictive ventilatory defect, Flexion contracture, Multiple ... ORPHA:70
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, Pa... OMIM:619167
Adult-Onset Distal Myopathy Due To Vcp Mutation
Weakness of the intrinsic hand muscles, Foot dorsiflexor weakness, Scapular winging, Fatty replac... ORPHA:329478
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers
Facial palsy, Decreased motor nerve conduction velocity, CNS hypomyelination, Cerebral hypomyelin... OMIM:601170
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Gliosis, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Skeletal muscle a... OMIM:105550
Familial Progressive Cardiac Conduction Defect
Arrhythmia, Congestive heart failure, Bundle branch block, Syncope, Heart block ORPHA:871
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Congestive heart failure, Atrial septal defect, Biventricula... ORPHA:860
Early-Onset X-Linked Optic Atrophy
Optic disc pallor, Optic atrophy, Decreased nerve conduction velocity ORPHA:98890
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Respiratory failure, Optic atrophy, Central hypoventilation OMIM:618233
Familial Supernumerary Nipples
Supernumerary nipple ORPHA:2456
Hyperekplexia 4
Distal arthrogryposis, Camptodactyly, Respiratory failure, Flexion contracture OMIM:618011
Vocal Cord And Pharyngeal Distal Myopathy
Abnormality of the extraocular muscles, Aspiration, Decreased nerve conduction velocity, Abnormal... ORPHA:600
Woolly Hair
Abnormal pupil morphology, Cataract ORPHA:170
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Sinus bradycardia, Skeletal muscle atrophy, Limb-girdle muscle weakness, Muscular dystrophy, Limb... OMIM:616812
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
Klippel-Feil Syndrome 3, Autosomal Dominant
Chorioretinal coloboma, Iris coloboma OMIM:613702
Ceroid Lipofuscinosis, Neuronal, 10
Sensory axonal neuropathy, Respiratory failure, Respiratory insufficiency, Neonatal death, Apnea OMIM:610127
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs, Increased varia... OMIM:618138
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Muscle fiber atrophy, Limb-girdle muscle weakness, EMG: myopathic abnormalities, Centra... ORPHA:98914
Congenital Myasthenic Syndrome
Cyanosis, Muscle fiber atrophy, Limb-girdle muscle weakness, EMG: myopathic abnormalities, Centra... ORPHA:590
Polyarteritis Nodosa
Sensory axonal neuropathy, Cardiomyopathy, Hypertension, Pericarditis, Raynaud phenomenon, Polyne... ORPHA:767
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Premature atrial contractions, Atr... OMIM:611493
Idiopathic Congenital Hypothyroidism
Bradycardia, Umbilical hernia, Macroglossia ORPHA:95717
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Axonal loss, Orthostatic hypotension, Abnormal atrioventricular conduction, Degeneration of anter... OMIM:118301
Osteopetrosis, Autosomal Recessive 5
Mydriasis, Stillbirth OMIM:259720
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Autosomal Recessive Spastic Paraplegia Type 67
Abnormal myelination ORPHA:401820
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Increased variability in muscle f... OMIM:618848
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Skeletal muscle atrophy, Respiratory failure, Neonatal death, Death in childhood, Neonatal respir... OMIM:245400
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Abnormal myocardium morphology, Dilated cardiomyopathy, Atrial flutter, Abnormal left ventricular... ORPHA:300751
Hereditary Motor And Sensory Neuropathy V
Peripheral axonal neuropathy, Decreased motor nerve conduction velocity OMIM:600361
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Respiratory failure, Hip contracture, Knee flexion contracture OMIM:313420
Naxos Disease
Dilated cardiomyopathy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Ab... OMIM:601214
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Arrhythmia, Congestive heart failure, Pulmonary embolism, Hypert... ORPHA:1345
Leber Optic Atrophy
Optic neuropathy, Myopathy, Optic atrophy, Arrhythmia OMIM:535000
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Respiratory failure, Head titubation, Gliosis, Absent brainstem auditory re... ORPHA:3240
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Ragged-red muscle fibers, Generalized amyotrophy, Respiratory failure, Dyspnea, Respiratory insuf... ORPHA:352447
Polyglucosan Body Neuropathy, Adult Form
Peripheral axonal neuropathy, Orthostatic hypotension, Abnormal upper motor neuron morphology, Ne... OMIM:263570
Danon Disease
Dilated cardiomyopathy, Arrhythmia, Wolff-Parkinson-White syndrome, Generalized amyotrophy, Hyper... OMIM:300257
Anterior Segment Dysgenesis 6
Developmental glaucoma, Abnormal Descemet membrane morphology, Corneal opacity, Posterior synechi... OMIM:617315
Asbestos Intoxication
Cyanosis, Nonproductive cough, Restrictive ventilatory defect, Hypoxemia, Late inspiratory crackl... ORPHA:2302
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Patent ductus arteriosus, Atrial septal defect, Aganglionic megacolon, Abnormal autonomic nervous... OMIM:613870
Scapuloperoneal Spinal Muscular Atrophy
Muscle fiber splitting, Scapuloperoneal amyotrophy, Peroneal muscle atrophy, Respiratory insuffic... OMIM:181405
Isaacs Syndrome
EEG abnormality, Weight loss ORPHA:84142
Lethal Congenital Contracture Syndrome 1
Skeletal muscle atrophy, Paucity of anterior horn motor neurons, Arthrogryposis multiplex congeni... OMIM:253310
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy OMIM:300816
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Ventricular tachycardia, Premature ventricular contraction, Sudden cardiac death, Palpitations, R... OMIM:610193
Amyloidosis, Hereditary, Transthyretin-Related
Abnormal autonomic nervous system physiology, Peripheral axonal neuropathy, Cardiomyopathy, Cardi... OMIM:105210
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Ventricular tachycardia, Congestive heart fail... OMIM:604145
Charcot-Marie-Tooth Disease Type 4D
Decreased amplitude of sensory action potentials, Decreased motor nerve conduction velocity, Demy... ORPHA:99950
Neuronopathy, Distal Hereditary Motor, Type Iid
Decreased motor nerve conduction velocity OMIM:615575
Adult-Onset Nemaline Myopathy
Nemaline bodies, Flexion contracture, Lower limb muscle weakness, Increased variability in muscle... ORPHA:171442
Familial Multiple Nevi Flammei
Intracranial hemorrhage, Pulmonary embolism, Abnormal cranial nerve morphology, Arrhythmia ORPHA:624
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Respiratory distress, Dyspnea ORPHA:1832
Neuromyelitis Optica Spectrum Disorder
Myelitis, Respiratory failure, Peripheral demyelination ORPHA:71211
Inclusion Body Myositis
Inflammatory myopathy, Rimmed vacuoles OMIM:147421
Infant Acute Respiratory Distress Syndrome
Bradycardia, Tachycardia, Hypotension, Cardiac arrest ORPHA:70587
Infantile Refsum Disease