Gene Summary

Name:
immunoglobulin mu DNA binding protein 2
Synonyms:
Smbp-2,  RIPE3b1,  sma,  Smbp2,  p110 subunit,  Smubp2,  Catf1,  AEP

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.

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged kidney Ighmbp2em1(IMPC)Tcp HET Late adult 0.00
preweaning lethality, complete penetrance Ighmbp2em1(IMPC)Tcp HOM   Early adult 0.00
cataract Ighmbp2em1(IMPC)Tcp HET Late adult 9.31×10-06
decreased bone mineral content Ighmbp2em1(IMPC)Tcp HET Early adult 5.30×10-05
abnormal skin morphology Ighmbp2em1(IMPC)Tcp HET Late adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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Viewing: all phenotypes

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.

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

175 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Histopathology

Images

23 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Combined SHIRPA and Dysmorphology

Images

3 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Electrocardiogram (ECG)

Waveform Image

2 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

8 Images

Eye Morphology

Images Slit Lamp

6 Images

Eye Morphology

Images Ophthalmoscopy

5 Images

Histopathology

Images

1 Images

Human diseases caused by Ighmbp2 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.

The table below shows human diseases associated to Ighmbp2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Small for gestational age, Spinal muscular atrophy, Camptodactyly of finger, Decreased nerve cond... OMIM:604320
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Axonal degeneration, Distal sensory impairment, Upper limb muscle weakness, Lower limb muscle wea... OMIM:616155

The table below shows human diseases predicted to be associated to Ighmbp2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cystic Angiomatosis Of Bone, Diffuse
Cystic angiomatosis of bone OMIM:123880
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Ataxi... OMIM:601098
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Hand muscle weakness, Distal sensory impairment, Upper... OMIM:608323
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Impaired temperature sen... DECIPHER:29
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Distal lower limb amyotrophy, Foot dorsiflexor weakness, Failure to thrive in infancy, Decreased ... ORPHA:90103
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118210
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Peripheral ax... OMIM:607706
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Elevated circulating creatine kinase concentration, First degree atrioventricular block, Peroneal... OMIM:181350
Danon Disease
Myocardial necrosis, Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concent... OMIM:300257
Charcot-Marie-Tooth Disease Type 2B1
Decreased motor nerve conduction velocity, Hand muscle atrophy, Peroneal muscle atrophy, Hand mus... ORPHA:98856
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Ankle flexion contracture, Decreased nerve conduction ... OMIM:611228
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block DECIPHER:31
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Somatic sensory dysfunction, ... OMIM:612577
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Muscle fiber hyaline bodies, Elevated circulating creatine kinase concentra... OMIM:255160
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Distal lower limb amyotrophy,... OMIM:613287
Congenital Myopathy 5 With Cardiomyopathy
Elevated circulating creatine kinase concentration, Sudden cardiac death, Centrally nucleated ske... OMIM:611705
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Proximal muscle weakness... OMIM:620068
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... OMIM:612999
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration/re... OMIM:614436
Chronic Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Hand muscle weakness, Decreased nerve conduction velocity, Segmental... ORPHA:2932
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity, Distal amyotrophy, Distal sensory impairment OMIM:605589
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Impaired distal vibratio... OMIM:610100
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Elevated circulating creatine kinase concentration, Ankle flexion contracture, ... OMIM:608099
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity, Distal sensory impairment, Upper limb muscle weakness,... OMIM:302801
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Dista... OMIM:608673
Charcot-Marie-Tooth Disease, Axonal, Type 2Y
Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Impaired dist... OMIM:616687
Polyglucosan Body Myopathy 2
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we... OMIM:616199
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paralysis, Distal amyotrophy, Difficulty walking, Vocal cord paresis OMIM:158580
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Facial palsy, Polyhydramnios, Respiratory insufficiency due to muscle weakn... OMIM:300580
Myopathy, Distal, 1
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Left atrial enlargement,... OMIM:160500
Charcot-Marie-Tooth Disease, Type 4H
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Small hypothenar eminenc... OMIM:609311
Cardiomyopathy, Dilated, 1X
Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati... OMIM:611615
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Impaired pain sensation,... OMIM:618912
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Calf muscle pseudohypertrophy, Scapular winging, Reduced vital capacity, Centrally nucleated skel... OMIM:608358
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, First degree atrioventricular block, Cardiomegaly, Atrioventricular block, ... OMIM:115197
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ... OMIM:302045
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Tachypnea, Atrioventricular block, Right ventricular dilatat... ORPHA:99106
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:605588
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Claw hand deformity, Upp... OMIM:606595
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Skeletal muscle atrophy, Impaired distal proprioception, Hand mus... ORPHA:101097
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12
Decreased motor nerve conduction velocity, Peroneal muscle weakness, Peroneal muscle atrophy, The... OMIM:614751
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Autosomal Recessive Spastic Paraplegia Type 43
Impaired vibratory sensation, Ankle flexion contracture, Babinski sign, Knee flexion contracture,... ORPHA:320370
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Elevated circulating creatine kinase concentration, Reduced muscle fiber alpha ... ORPHA:206559
Distal Hereditary Motor Neuropathy Type 5
Impaired vibratory sensation, Abnormal motor nerve conduction velocity, Thenar muscle atrophy, Th... ORPHA:139536
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe... OMIM:214400
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Waddling gait, Spinal muscular atrophy, Type 2 muscle fiber predominance, Proximal muscle weaknes... OMIM:158600
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Peripheral axonal degene... OMIM:302800
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Caudate atrophy, Respiratory insufficienc... OMIM:617892
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Elevated circulating creatine kinase concentration, Centrally nucleated ske... ORPHA:86812
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Hand muscle weakness, Segmental peripheral demyelinati... OMIM:162500
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Elevated circulating creatine kinase concentration, Respiratory insufficiency due to muscle weakn... OMIM:300718
Myopathy, Myofibrillar, 1
Facial palsy, Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy, Hypertrop... OMIM:601419
Hereditary Myopathy With Early Respiratory Failure
Orthopnea, Reduced vital capacity, Skeletal muscle atrophy, Internally nucleated skeletal muscle ... ORPHA:178464
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ... OMIM:613642
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Distal amyotrophy, Periphe... OMIM:605253
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr... OMIM:601382
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... OMIM:606482
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Distal lower limb amyotrophy, Decreased compound muscle action potential amplitude, Impaired dist... OMIM:619519
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Nonaka Myopathy
Distal amyotrophy, Gait disturbance, EMG: myopathic abnormalities, Distal lower limb muscle weakn... OMIM:605820
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased number of large... OMIM:615376
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Elevated circulati... OMIM:604286
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Somatic sensory dysfunct... OMIM:600882
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:609260
Cirrhotic Cardiomyopathy
Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Abnorma... ORPHA:57777
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Cerebellar atrophy, Decr... OMIM:607250
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Distal sensory impairmen... OMIM:600361
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:607734
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Decreased motor nerve conduction velocity, Claw hand deformity, Spinal muscular atrophy, Decrease... OMIM:605726
Adult-Onset Nemaline Myopathy
Reduced vital capacity, Respiratory insufficiency due to muscle weakness, Flexion contracture, In... ORPHA:171442
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Hand muscle atrophy, Onion bulb formation, Decreased d... OMIM:607684
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Ac... OMIM:300696
Slowed Nerve Conduction Velocity, Autosomal Dominant
Decreased nerve conduction velocity OMIM:608236
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... OMIM:618655
Myopathy, Distal, Tateyama Type
Elevated circulating creatine kinase concentration, Hand muscle weakness, Centrally nucleated ske... OMIM:614321
Congenital Myopathy 4A, Autosomal Dominant
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Reduced forced ... OMIM:255310
Cardiomyopathy, Dilated, 1L
Increased left ventricular end-diastolic volume, Reduced systolic function, Elevated circulating ... OMIM:606685
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity, Skeletal muscle atrophy, Central nervous system degeneration ORPHA:868
X-Linked Charcot-Marie-Tooth Disease Type 6
Distal lower limb amyotrophy, Thenar muscle atrophy, Decreased nerve conduction velocity, Impaire... ORPHA:352675
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal musc... ORPHA:266
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased distal sensory ... ORPHA:206594
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... OMIM:271150
Congenital Myopathy 2A, Typical, Autosomal Dominant
Facial palsy, Polyhydramnios, Respiratory insufficiency due to muscle weakness, Dilated cardiomyo... OMIM:161800
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J
Decreased motor nerve conduction velocity, Thenar muscle atrophy, Distal sensory impairment OMIM:620111
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Decreased nerve conduction velocity, Paraparesis, Distal sensory impairment, Upper limb muscle we... OMIM:302802
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Abnormal pulmonary interstitial mo... ORPHA:330001
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Prolonged QRS complex, Apnea, Cardiomegaly, Pericardial effusion, Shortened... OMIM:261740
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Impaired distal proprioception, Paraparesis, Pain, Sciatica, Periph... ORPHA:231445
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Elevated circulating creatine kinase concentration, Reduced muscle fiber alpha dystroglycan, Dila... ORPHA:34515
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Myopathy, Limb-girdle... OMIM:612937
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Elevated circulating creatine kinase concentration, Quadriceps muscle weakness, Congestive heart ... ORPHA:206546
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Hand muscle atrophy, Skeletal muscle atrophy, Decreased nerve conduction velocity, Distal sensory... ORPHA:99944
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... OMIM:613954
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Tremor, Inability to walk, Ragged-red muscle fibers, Inc... ORPHA:276435
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Distal amyotrophy, Foot do... OMIM:607678
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Respiratory failure requiring assisted ventilation, Nemaline bodies, Increased variability in mus... OMIM:620265
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Decreased motor nerve conduction velocity, Lower limb muscle weakness, Spinal muscular atrophy, W... OMIM:615575
Sandhoff Disease, Adult Form
Tremor, Gait ataxia, Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Focal d... ORPHA:309169
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:607482
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Claw hand deformity, Dec... OMIM:605285
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Peripheral axonal neuropathy, Distal amyotrophy, Distal sens... OMIM:608895
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Elevated circulating creatine kinase concentration, Fatty replacem... ORPHA:52430
Charcot-Marie-Tooth Disease Type 4A
Impaired pain sensation, Impaired distal proprioception, Decreased nerve conduction velocity, Han... ORPHA:99948
Muscular Dystrophy, Becker Type
Abnormal EKG, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentration, ... OMIM:300376
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... OMIM:619897
Dpm3-Cdg
Dilated cardiomyopathy, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weaknes... ORPHA:263494
Charcot-Marie-Tooth Disease Type 1B
Skeletal muscle atrophy, Somatic sensory dysfunction, Peripheral axonal neuropathy, Decreased ner... ORPHA:101082
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Thenar muscle atrophy, Dilated cardiomyopathy, Distal lower limb muscle weakness, Interosseus mus... OMIM:619903
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Peripheral axonal... ORPHA:435387
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Hand muscle weakness, Resp... OMIM:606070
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Distal lower limb muscle weakness, Difficulty walking, Paralysis OMIM:608634
Trigeminal Neuralgia
Somatic sensory dysfunction, Trigeminal neuralgia, Ocular pain, Cranial nerve compression, Parest... ORPHA:221091
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti... OMIM:616040
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Clumsiness, Myopathy, Di... ORPHA:603
Welander Distal Myopathy
Distal amyotrophy, Steppage gait, Rimmed vacuoles OMIM:604454
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Somatic sensory dysfunction, Peripheral axonal neuropathy, Decreased nerve conduction velocity, U... ORPHA:99939
Mitochondrial Dna Depletion Syndrome 11
Cerebellar atrophy, Facial palsy, Elevated circulating creatine kinase concentration, Dyspnea, Ra... OMIM:615084
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hyperalaninemia, Apnea, Congestive heart failure, Bradycardia, Brain atr... OMIM:619048
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph... OMIM:601596
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Wolff-Parkinson-White syndrome, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,... OMIM:619566
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Myopathy, Centronuclear, 5
Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Respiratory ... OMIM:615959
Myopathy, Myofibrillar, 3
Elevated circulating creatine kinase concentration, Achilles tendon contracture, Cardiomyopathy, ... OMIM:609200
Familial Isolated Restrictive Cardiomyopathy
Orthopnea, Recurrent respiratory infections, Atrial fibrillation, Tricuspid regurgitation, Left a... ORPHA:75249
Neuropathy, Congenital Hypomyelinating, 2
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Decreased number of periphera... OMIM:618184
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Peripartum Cardiomyopathy
Crackles, Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilat... ORPHA:563
Spinal Muscular Atrophy, Type Iii
Pelvic girdle amyotrophy, Spinal muscular atrophy, Hand tremor, Degeneration of anterior horn cel... OMIM:253400
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Skeletal muscle atrophy, Reduced systolic function, Elevated circulating creatine kinase concentr... OMIM:616827
Cardiomyopathy, Dilated, 2A
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:611880
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Somatic sensory dysfunct... ORPHA:101077
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... OMIM:105550
Ravine Syndrome
Apnea, Ataxia, Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem,... ORPHA:99852
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Cardiomegaly, Pericardial effusion, Optic atrophy, Hyperammonemia, Hyp... OMIM:614702
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Sensory ataxia, Distal sensor... ORPHA:101081
Mitochondrial Myopathy With Diabetes
Ataxia, Facial palsy, Ragged-red muscle fibers, Babinski sign, Limb muscle weakness, Proximal amy... OMIM:500002
Muscle Filaminopathy
Extremely elevated creatine kinase, Scapular winging, Fatty replacement of skeletal muscle, Left ... ORPHA:171445
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Elevated circulating creatine kinase concentration, Cardiomegaly, Cong... OMIM:604765
Congenital Myopathy 24
Scapular winging, Reduced vital capacity, Facial palsy, First degree atrioventricular block, Card... OMIM:617336
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Optic atrophy, Skeletal muscle hypertrophy,... ORPHA:99014
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Respiratory insufficiency due to muscle weakn... ORPHA:399058
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:180800
Charcot-Marie-Tooth Disease, Type 4B3
Skeletal muscle atrophy, Onion bulb formation, Decreased nerve conduction velocity, Distal sensor... OMIM:615284
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Vestibular schwannoma, Foot dorsiflexor wea... OMIM:613641
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... ORPHA:275872
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... OMIM:605362
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Peripheral axonal degeneration, Skeletal muscle atrophy, Tremor, Dysmetria, Gait ataxia, Ataxia, ... OMIM:615157
Charcot-Marie-Tooth Disease Type 4G
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Peripheral axonal neurop... ORPHA:99953
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... OMIM:108900
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... OMIM:618848
Congenital Myopathy 14
Hip contracture, Apnea, Respiratory insufficiency due to muscle weakness, Flexion contracture, El... OMIM:618414
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Hand tremor, Proxima... OMIM:604484
Cardiomyopathy, Dilated, 1W
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... OMIM:613122
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13
Distal lower limb amyotrophy, Decreased compound muscle action potential amplitude, Distal lower ... OMIM:619112
Leukodystrophy, Hypomyelinating, 18
Cerebellar atrophy, Abnormal motor nerve conduction velocity, Decreased nerve conduction velocity... OMIM:618404
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Cerebellar atrophy, Decreased mitochondrial number, Elevated circulating creatine kinase concentr... ORPHA:352447
Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... ORPHA:98853
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Optic atrophy, Cardiomyopathy, Increased variability ... ORPHA:401768
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Decreased n... OMIM:618138
Cardiomyopathy, Dilated, 1Ff
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... OMIM:613286
Congenital Myopathy 8
Reduced vital capacity, Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive hea... OMIM:618654
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... OMIM:613172
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Decreased number of periphera... OMIM:614895
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... ORPHA:98855
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... ORPHA:611
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dyspnea, Dilated cardi... OMIM:612877
Complex Regional Pain Syndrome
Somatic sensory dysfunction, Involuntary movements, Dysesthesia, Limb pain, Trophic changes relat... ORPHA:83452
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Facial palsy, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Elevated ci... OMIM:619424
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Respiratory insufficiency due to muscle weakness, Intrinsic hand muscle atrophy, Cardiomyopathy, ... ORPHA:63273
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Decreased nerve conduction velocity, Skeletal muscle atrophy, Ataxia OMIM:183050
Amyotrophic Lateral Sclerosis 19
Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis OMIM:615515
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... OMIM:616812
Ataxia-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity, Skeletal muscle atrophy, Ataxia, Cerebral cortical atrophy ORPHA:1188
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... ORPHA:732
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity, Skeletal muscle atrophy, Ataxia, Impaired pain sensation ORPHA:101078
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Amyotrophic lateral scler... OMIM:602433
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia ORPHA:1216
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Apnea, Respiratory failure, Bradycardia, Brain atrophy, Atrophy/Degene... OMIM:616277
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity ORPHA:640
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Cryptorchidism, Dilated cardiomyopathy, Flexion contracture, Hydrops fetalis, Bradycardia, Hypert... OMIM:618815
Systemic Capillary Leak Syndrome
Pericarditis, Pulmonary edema, Myocarditis, Cardiorespiratory arrest, Weight loss, Pedal edema, P... ORPHA:188
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Elbow contracture, Ankle contracture, Elevated circulating creatine kinase conce... OMIM:620386
Myopathy, Sarcoplasmic Body
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... OMIM:620286
Amyotrophic Lateral Sclerosis 5, Juvenile
Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis, Abnormal lower m... OMIM:602099
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal amyotrophy, Fiber type grouping OMIM:614369
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:607831
Spinal Muscular Atrophy, X-Linked 2
Multiple joint contractures, Facial palsy, Spinal muscular atrophy, Respiratory insufficiency due... OMIM:301830
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... OMIM:613252
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Calf muscle pseudohypertrophy, Hypoventilation, Elevated circulating creatine kinas... OMIM:310200
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Skeletal muscle atrophy, Foot joint contracture, Decreased nerve conduction velocity, Optic atrop... ORPHA:457205
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu... ORPHA:59135
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Skeletal muscle atrophy, Progressive distal muscular atrophy, Facial palsy, Spinal muscular atrop... OMIM:159950
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Decreased forced expiratory flow 25-75%, Camptodactyly of finger, Ankle flexion contracture, Cent... OMIM:617072
X-Linked Charcot-Marie-Tooth Disease Type 1
Distal lower limb amyotrophy, Ataxia, Impaired pain sensation, Distal upper limb amyotrophy, Abno... ORPHA:101075
Nemaline Myopathy 2
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Apnea, Slender build, Thenar muscle atrop... OMIM:256030
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118220
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Small for gestational age, Spinal muscular atrophy, Camptodactyly of finger, Decreased nerve cond... OMIM:604320
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... ORPHA:66529
Absence Of The Pulmonary Artery
Cardiomegaly, Nonproductive cough, Pedal edema, Atrial septal defect, Patent foramen ovale, Abnor... ORPHA:980
Myopathy, Myofibrillar, 5
Waddling gait, Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber s... OMIM:609524
Cardiomyopathy, Dilated, 1Jj
Reduced left ventricular ejection fraction, Dilated cardiomyopathy OMIM:615235
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Patent ductus arteriosus, Respiratory insufficiency, Hypoplastic left ... OMIM:616276
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ... OMIM:619279
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Respiratory insufficiency, Distal amyotrophy, Type 1 muscle fiber predominance, ... OMIM:619042
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Recurrent respiratory infections, Right axis deviation, Increased... OMIM:232300
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Elevated circulating c... OMIM:254110
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Scapular winging, Elevated circulating creatine kinase c... OMIM:619733
Spinocerebellar Ataxia 48
Cerebellar atrophy, Ataxia, Urinary incontinence, Cachexia, Parkinsonism, Tremor, Chorea, Babinsk... OMIM:618093
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory failure, Apnea, Muscular dystrophy, Respiratory insufficiency OMIM:613869
Hydrops Fetalis
Small for gestational age, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial eff... ORPHA:1041
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Skeletal muscle atrophy, Nonimmune hydrops fetalis, Portal hypertension, Po... ORPHA:367
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Dilated cardiomyopathy, Arrhythmia, Hypertrophic cardiomyopathy, Failur... OMIM:616198
Spastic Paraplegia 17, Autosomal Dominant
Decreased motor nerve conduction velocity, Impaired distal proprioception, Thenar muscle atrophy,... OMIM:270685
Mitochondrial Complex I Deficiency, Nuclear Type 6
Skeletal muscle atrophy, Optic disc pallor, Apnea, Ataxia, Optic atrophy, Respiratory insufficien... OMIM:618228
Early-Onset X-Linked Optic Atrophy
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Choreoathetos... ORPHA:98890
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ... ORPHA:206549
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Mitochondrial Dna Depletion Syndrome 18
Hand muscle atrophy, Clonus, Axonal degeneration, Distal amyotrophy, Tongue fasciculations, Weakn... OMIM:618811
Myasthenic Syndrome, Congenital, 17
Difficulty walking, Type 1 muscle fiber predominance OMIM:616304
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cardiorespiratory arrest ORPHA:34587
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... OMIM:601494
Childhood-Onset Nemaline Myopathy
Scapular winging, Reduced vital capacity, Polyhydramnios, Respiratory insufficiency due to muscle... ORPHA:171439
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Fatty replacement of... OMIM:608807
Sensorineural Deafness With Dilated Cardiomyopathy
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy ORPHA:217622
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602087
Spinal Muscular Atrophy, Type Ii
Degeneration of anterior horn cells, Skeletal muscle atrophy, Spinal muscular atrophy, Hand tremor OMIM:253550
Anterior Cutaneous Nerve Entrapment Syndrome
Back pain, Somatic sensory dysfunction, Abdominal pain, Impaired tactile sensation, Hyperesthesia... ORPHA:51890
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Thenar muscle atrophy, Thenar muscle weakness, Distal ... OMIM:118300
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Increased serum pyruvate, Congestive heart failure, Dyspnea, Dilated cardiomyopathy, Ragged-red m... ORPHA:1349
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Dilated cardiomyopathy, Flexion contracture, Optic atrophy, Left ventri... OMIM:252011
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Amyotrophic lateral sc... OMIM:612069
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... ORPHA:542306
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morph... ORPHA:1145
Noonan Syndrome 8
Failure to thrive, Ventricular septal defect, Polyhydramnios, Large for gestational age, Cryptorc... OMIM:615355
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart ORPHA:3283
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Skeletal muscle atrophy, Peripheral axonal neuropathy, Axonal degeneration, Diaphragmatic paralys... OMIM:620011
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Cerebellar atrophy, Ataxia, Decreased number of large peripheral ... OMIM:208920
Familial Isolated Dilated Cardiomyopathy
Myopathy, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration ORPHA:154
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Absent P wave, First degree atrioventricular block, Sudden cardiac death... OMIM:310300
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Cataract ORPHA:79281
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary hyp... OMIM:614096
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118200
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy OMIM:613881
Pontocerebellar Hypoplasia Type 1
Skeletal muscle atrophy, Ataxia, Optic atrophy, Congenital laryngeal stridor, Degeneration of ant... ORPHA:2254
Riboflavin Transporter Deficiency
Skeletal muscle atrophy, Optic disc pallor, Ataxia, Facial palsy, Cachexia, Tremor, Abnormal auto... ORPHA:97229
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Episodic tachypnea, Elevated circulating creatine kinase concentration, Tac... ORPHA:26793
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... OMIM:601954
Coenzyme Q10 Deficiency, Primary, 5
Cerebellar atrophy, Cerebral atrophy, Respiratory insufficiency, Bradycardia, Left ventricular hy... OMIM:614654
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... OMIM:616201
Muscular Dystrophy, Cardiac Type
Cardiomyopathy, Abnormal EKG, Muscular dystrophy, Elevated circulating creatine kinase concentration OMIM:309930
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, Respiratory in... OMIM:608423
Roussy-Lévy Syndrome
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Somatic sensory dysfunct... ORPHA:3115
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Spinal muscular atrophy, Respiratory insufficiency, Hand tremor, Degeneration of anterior... OMIM:607596
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Cardiac arrest, Elevated circulating creatine kinase concentration, Rhab... OMIM:212138
Myopathy, Distal, 4
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... OMIM:614065
Vocal Cord And Pharyngeal Distal Myopathy
Amyotrophic lateral sclerosis, Abnormal morphology of musculature of pharynx, Respiratory insuffi... ORPHA:600
Mitochondrial Complex I Deficiency, Nuclear Type 13
Apnea, Cardiac arrest, Cerebral atrophy, Bradycardia, Hypertrophic cardiomyopathy, Failure to thrive OMIM:618235
Cataract 42
Cataract, Developmental cataract OMIM:115900
Distal Nebulin Myopathy
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... ORPHA:399103
Myopathy, Distal, 5
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... OMIM:617030
Autosomal Recessive Spastic Paraplegia Type 57
Distal lower limb amyotrophy, Optic atrophy, Abnormality of the Achilles tendon, Abnormality of p... ORPHA:431329
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Elevated circulating creatine kinase concentration, Centrally nucl... OMIM:615424
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Tricuspid regurgitation, Congestive heart failure, Chronic pulmonary obstru... ORPHA:2414
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... OMIM:610198
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Hand muscle atrophy, Hand muscle weakness, Vocal cord paralysis, Distal amyotrophy, Weakness of f... OMIM:607641
Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Motor neuron atrophy, Dyspnea, Abnormal r... ORPHA:803
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ty... OMIM:605809
Autosomal Dominant Spastic Paraplegia Type 17
Hand muscle atrophy, Abnormal motor nerve conduction velocity, Hand muscle weakness, Abnormality ... ORPHA:100998
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Hypercholesterolemia, Increased variability in muscle fiber diamet... ORPHA:488650
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... ORPHA:70589
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Reduced forced vital capacity, Overweight, Z-band str... OMIM:619178
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Ataxia, Inability to walk, Ragged-red muscle fibers, Athetosis, Abnormality of extrapyramidal mot... OMIM:615159
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal car... ORPHA:50251
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Reduced vital capacity, Ankle flexion contracture, Centrally nucleated s... OMIM:617760
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles, Elevated circulating creatine kinase ... OMIM:609500
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... ORPHA:3282
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Heart-Hand Syndrome, Slovenian Type
Myopathy, Dilated cardiomyopathy OMIM:610140
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Cardiomyopathy, Hypoalbuminemia, Hypermethionin... OMIM:613752
Loeffler Endocarditis
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Cough, Abnormal morphology of the chorda... ORPHA:75566
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Mitochondrial Complex I Deficiency, Nuclear Type 14
Myopathy, Optic atrophy, Apnea, Brain atrophy OMIM:618236
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:145900
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Facial palsy, Camptodactyly of finger, Abnormal motor nerve conduction velo... OMIM:614399
Autosomal Dominant Spastic Paraplegia Type 73
Distal lower limb amyotrophy, Lower limb spasticity, Urinary incontinence, Degeneration of the la... ORPHA:444099
Myopathy, Myofibrillar, 8
Scapular winging, Reduced vital capacity, Elevated circulating creatine kinase concentration, Cen... OMIM:617258
Charcot-Marie-Tooth Disease Type 1F
Hand muscle atrophy, Absent brainstem auditory responses, Skeletal muscle atrophy, Hand muscle we... ORPHA:101085
Monomelic Amyotrophy
Degeneration of anterior horn cells, Distal upper limb amyotrophy, Tremor, Abnormality of periphe... ORPHA:65684
Striatonigral Degeneration, Infantile, Mitochondrial
Incoordination, Poor motor coordination, Clonus, Chorea, Ragged-red muscle fibers, Babinski sign,... OMIM:500003
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculat... OMIM:181400
Charcot-Marie-Tooth Disease, Type 4D
Claw hand deformity, Abnormal auditory evoked potentials, Impaired distal proprioception, Decreas... OMIM:601455
Myoclonus, Intractable, Neonatal
Optic disc pallor, Apnea, Chorea, Athetosis, Increased variability in muscle fiber diameter OMIM:617235
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, Increased mito... ORPHA:263297
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Dyspnea, Left posterior fascicular block, Right bundle branch block, Syncop... OMIM:113900
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Respira... OMIM:255100
Cardiomyopathy, Dilated, 2C
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy OMIM:618189
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Optic atrophy, Cardiomyopathy, Lower limb hypertonia, Generalized amyotrophy, Lower... ORPHA:1177
Sudden Infant Death Syndrome
Apneic episodes in infancy OMIM:272120
Spinocerebellar Ataxia, Autosomal Recessive 32
Cerebellar atrophy, Somatic sensory dysfunction, Torticollis, Limb ataxia, Gait ataxia, Atrophy/D... OMIM:619862
Infant Acute Respiratory Distress Syndrome
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ... ORPHA:70587
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:615490
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo... ORPHA:98912
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Acute Interstitial Pneumonia
Crackles, Elevated circulating C-reactive protein concentration, Nodular pattern on pulmonary HRC... ORPHA:79126
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Central apnea, Cerebellar atrophy, Low anterior hairline, Cerebral atrophy, Dysmetria, Gait ataxi... ORPHA:320385
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Flexion contracture, Respiratory failure, Incre... OMIM:300717
X-Linked Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... ORPHA:98863
Hemochromatosis, Type 1
Cardiomegaly, Congestive heart failure, Increased circulating ferritin concentration, Telangiecta... OMIM:235200
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Cachexia, Abdominal pain, Hypoesthesia, Ragged-red muscle fibers, Distal sensory impairment, Weig... OMIM:603041
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... ORPHA:34516
Muscular Dystrophy, Congenital, Megaconial Type
Facial palsy, Elevated circulating creatine kinase concentration, Mitochondrial hypertrophy, Dila... OMIM:602541
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Recurrent respiratory infections, Facial palsy, Polyhydramnios, Centrall... OMIM:255320
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ataxia, Cachexia, Abdominal pain, Ragged-red muscle fibers, Weight loss, Slender build OMIM:613662
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, 3-Methylglutaconic aciduria, Cataract OMIM:619813
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Failure to thrive, Apneic episodes in infancy, Flexion contracture, Cerebral atrophy ORPHA:500545
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602086
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... OMIM:618129
Rhabdomyolysis, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, R... OMIM:620235
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Centrally nucleated skeletal muscle fibers, Cryptorchidism, Flexion co... OMIM:618484
Mitochondrial Trifunctional Protein Deficiency 1
Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati... OMIM:609015
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... OMIM:160150
Ceroid Lipofuscinosis, Neuronal, 10
Cerebellar atrophy, Apnea, Increased neuronal autofluorescent lipopigment, Ataxia, Respiratory in... OMIM:610127
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Respiratory failure, Global brain atrophy, Respiratory insufficiency OMIM:611722
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... OMIM:609115
King-Denborough Syndrome
Ventricular septal defect, Elevated circulating creatine kinase concentration, Centrally nucleate... OMIM:619542
Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic lateral sclerosis, Lower limb muscle weakness, Weakness of the intrinsic hand muscles OMIM:614373
Myasthenic Syndrome, Congenital, 14
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged... OMIM:616228
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Elevated circulating creatine kinase concentration, Reduced forced vital capacity, Achilles tendo... OMIM:607155
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Axonal degeneration, Distal sensory impairment, Upper limb muscle weakness, Lower limb muscle wea... OMIM:616155
Desminopathy
Sudden cardiac death, Supraventricular arrhythmia, Respiratory insufficiency due to muscle weakne... ORPHA:98909
Null Syndrome
Ataxia, Decreased nerve conduction velocity, Optic atrophy, Peripheral demyelination, Abnormality... ORPHA:280234
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... OMIM:601846
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... ORPHA:596
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Decreased motor nerve conduction velocity, Ataxia, Impaired distal proprioception, Impaired dista... OMIM:616688
Nathalie Syndrome
Skeletal muscle atrophy, Abnormal EKG OMIM:255990
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Waddling gait, Calf muscle pseudohypertrophy, Reduced muscle fiber alpha dystroglycan, Ankle flex... ORPHA:280333
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... OMIM:608751
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture... OMIM:603689
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Proximal amyotrophy OMIM:608030
Barth Syndrome
Dilated cardiomyopathy, Abnormal mitochondrial morphology, Endocardial fibroelastosis ORPHA:111
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Recurrent respiratory infections, Multiple joint contractures, Centrally nucleated skeletal muscl... ORPHA:486815
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Ataxia, Acute rhabdomy... OMIM:604168
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Ragged-red muscle fibers, Limb muscle weakness, Cerebral atrophy, Cardiomyopathy, Bradycardia, Ar... OMIM:609286
Wild Type Abeta2M Amyloidosis
Dysesthesia, Decreased nerve conduction velocity, Abnormal tendon morphology, Macroglossia, Axona... ORPHA:85446
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Tachypnea, Elevated circulating creatinine concentration, Capillary lea... ORPHA:542323
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Respiratory failure OMIM:613435
Attrv122I Amyloidosis
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... ORPHA:85451
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Muscular dystrophy, Bradycardi... OMIM:614302
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid regurgitation, A... ORPHA:1677
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... OMIM:613496
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Spastic Paraplegia 85, Autosomal Recessive
Impaired vibratory sensation, Cerebellar atrophy, Torticollis, Peripheral axonal neuropathy, Lowe... OMIM:619686
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Myopathy, Myofibrillar, 2
Orthopnea, Elevated circulating creatine kinase concentration, Respiratory insufficiency due to m... OMIM:608810
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cerebellar atrophy, Respiratory distress, Increased serum pyruvate, Cardiac arrest, Basal ganglia... OMIM:604377
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... OMIM:117000
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Impaired distal proprioceptio... OMIM:162400
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Supraventricular arrhythmia, Optic atrophy, Cardiomyopathy, Leg muscle stiffness, Distal lower li... ORPHA:320360
Trichomegaly
Cataract OMIM:190330
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... OMIM:614022
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Increased intramy... OMIM:617228
Autosomal Recessive Spastic Paraplegia Type 25
Lower limb pain, Paraparesis, Spastic paraplegia, Upper limb pain, Neck pain, Abnormality of peri... ORPHA:101005
Congenital Muscular Dystrophy, Fukuyama Type
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Dilated cardiomyopathy, Flexion... ORPHA:272
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Pedal edema, Right ventr... ORPHA:2041
Juvenile Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Lower limb spasticity, Ataxia, Urinary in... ORPHA:300605
Isobutyryl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, Dehydration, Pulmonic s... ORPHA:79159
Hemochromatosis, Type 2A
Congestive heart failure, Increased circulating ferritin concentration, Dilated cardiomyopathy, C... OMIM:602390
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Cryptorchidism,... OMIM:618823
Alpers-Huttenlocher Syndrome
Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa... ORPHA:726
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:205200
Kufor-Rakeb Syndrome
Fatigue, Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic... OMIM:606693
Digital Extensor Muscle Aplasia-Polyneuropathy
Skeletal muscle atrophy, Camptodactyly of finger, Impaired pain sensation, Muscular dystrophy, Ab... ORPHA:2926
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Skeletal muscle atrophy, Lower-limb joint contracture, Difficulty walking, Paralysis OMIM:613710
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi... ORPHA:137675
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Re... ORPHA:238329
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 3 With Rigid Spine
Reduced vital capacity, Failure to thrive, Decreased body weight, Facial palsy, Centrally nucleat... OMIM:602771
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:205250
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Peripheral axonal neuropathy, Decreased distal sensory nerve action potential, Distal amyotrophy,... OMIM:618400
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent duc... OMIM:601005
Galactosemia Ii
Galactosuria, Cataract OMIM:230200
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Central apnea, Low anterior hairline, Dysmetria, Cerebral atrophy, Gait ataxia, Hypomimic face OMIM:615031
Myopathy, Centronuclear, 4
Abnormal circulating creatine kinase concentration, Type 1 muscle fiber predominance, Centrally n... OMIM:614807
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati... OMIM:615184
Ataxia-Pancytopenia Syndrome
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Impaired vibration sensation in ... OMIM:159550
Oculopharyngodistal Myopathy 1
Respiratory distress, Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Hypercap... OMIM:164310
Spastic Ataxia 4, Autosomal Recessive
Spastic ataxia, Babinski sign, Optic atrophy, Limb ataxia, Gait ataxia, Lower limb hypertonia, Up... OMIM:613672
Avian Influenza
Respiratory distress, Pneumonia, Elevated circulating creatine kinase concentration, Productive c... ORPHA:454836
Mast Syndrome
Cerebellar atrophy, Incoordination, Babinski sign, Spastic paraplegia, Cerebral atrophy, Athetosi... OMIM:248900
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Myopathy, Tubular Aggregate, 1
Flexion contracture, Respiratory insufficiency, Proximal amyotrophy, Type 2 muscle fiber atrophy,... OMIM:160565
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle... ORPHA:169186
Zebra Body Myopathy
Waddling gait, Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle... ORPHA:97240
Amyotrophic Lateral Sclerosis 1
Degeneration of anterior horn cells, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Dege... OMIM:105400
Lethal Congenital Contracture Syndrome 5
Small for gestational age, Elevated circulating creatine kinase concentration, Polyhydramnios, Ce... OMIM:615368
Atrial Standstill 1
Ventricular escape rhythm, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree at... OMIM:108770
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Clumsiness, Steppage gait, D... ORPHA:399086
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Steppage gait, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Achilles tendon contracture, Opt... OMIM:612674
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Dilated cardiomyopathy, Decreased body weight OMIM:618097
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:611895
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Reduced forced vital capacit... OMIM:617066
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Ventricular septal defect, Edema, Polyhydramnios, Dilated cardiomyopathy... OMIM:607598
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, C... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, C... OMIM:616437
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... OMIM:618782
Congenital Myopathy 18
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, F... OMIM:620246
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Impaired pain sensation, Fatty replacement of skeletal muscle, Decreased compound muscle action p... OMIM:618279
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Distal lower limb muscle weakness, Paralysis OMIM:158590
Congenital Myopathy 22A, Classic
Hip contracture, Scapular winging, Tricuspid regurgitation, Polyhydramnios, Centrally nucleated s... OMIM:620351
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red... OMIM:607459
Amyotrophic Lateral Sclerosis 8
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Postural tremor, Proximal amyotrophy, Dis... OMIM:608627
Familial Dyskinesia And Facial Myokymia
Limb hypertonia, Dilated cardiomyopathy, Congestive heart failure, Facial myokymia ORPHA:324588
Spastic Paraplegia 75, Autosomal Recessive
Distal lower limb amyotrophy, Cerebellar atrophy, Corpus callosum atrophy, Impaired distal vibrat... OMIM:616680
Muscular Dystrophy, Limb-Girdle, Type 1H
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, C... OMIM:613530
High Altitude Pulmonary Edema
Orthopnea, Tachycardia, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema ORPHA:330012
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Congenital Gerbode Defect
Crackles, Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaf... ORPHA:99095
Scorpion Envenomation
Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Cardiac conducti... ORPHA:466677
Complete Atrioventricular Septal Defect
Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Displacem... ORPHA:1329
Nemaline Myopathy 6
Skeletal muscle atrophy, Myopathy, Gait disturbance, Limb muscle weakness, Nemaline bodies OMIM:609273
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:604563
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Pontocerebellar Hypoplasia Type 4
Central apnea, Respiratory failure requiring assisted ventilation, Arthrogryposis multiplex conge... ORPHA:166063
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Elevated circulating creatine ... OMIM:253700
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type