Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Hspb8 MGI:2135756

Gene Summary

Name:

heat shock protein 8

Synonyms:

H11, E2IG1, HSP20-like, D5Ucla4, HSP22, Cryac, H11K

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
preweaning lethality, incomplete penetrance	Hspb8^em1(IMPC)J	HOM	Early adult	0.00
decreased leukocyte cell number	Hspb8^em1(IMPC)J	HOM	Early adult	6.26×10^-05
abnormal coat/ hair morphology	Hspb8^em1(IMPC)J	HOM	Early adult	9.01×10^-06
increased circulating phosphate level	Hspb8^em1(IMPC)J	HOM	Early adult	4.19×10^-05
hyperactivity	Hspb8^em1(IMPC)J	HOM	Early adult	5.01×10^-06

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

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 Whole Body Dorso Ventral

12 Images

View images

Electroretinography 3

Fundus file

16 Images

View images

X-ray

XRay Images Skull Lateral Orientation

12 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

View images

X-ray

XRay Images Forepaw

12 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

View images

Eye Morphology

Images Slit Lamp

1 Images

View images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

View images

Electrocardiogram (ECG)

Waveform Image

15 Images

View images

Human diseases caused by Hspb8 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.

Human diseases associated with Hspb8 (2 diseases)
Human diseases predicted to be associated with Hspb8 (756 diseases)

The table below shows human diseases associated to Hspb8 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Charcot-Marie-Tooth Disease, Axonal, Type 2L		Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Dista...	OMIM:608673
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2		Distal lower limb muscle weakness	OMIM:158590

The table below shows human diseases predicted to be associated to Hspb8 by phenotypic similarity.

Disease	Matching phenotypes	Source
Charcot-Marie-Tooth Disease Type 2B1	Decreased motor nerve conduction velocity, Hand muscle atrophy, Hand muscle weakness, Peroneal mu...	ORPHA:98856
Myopathy, Distal, 5	Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower...	OMIM:617030
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration/re...	OMIM:614436
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant	Somatic sensory dysfunction, Spinal muscular atrophy, Type 2 muscle fiber predominance, Proximal ...	OMIM:158600
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Distal lower limb amyotrophy, Decreased nerve conduction velocity, Decreased number of large peri...	ORPHA:90103
Myopathy, Distal, With Rimmed Vacuoles	Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa...	OMIM:617158
Exercise Intolerance, Riboflavin-Responsive	Ragged-red muscle fibers	OMIM:616839
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d...	OMIM:609115
Klhl9-Related Early-Onset Distal Myopathy	Peripheral axonal neuropathy, Ankle flexion contracture, Impaired vibration sensation in the lowe...	ORPHA:399081
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental...	OMIM:606482
Polyglucosan Body Myopathy 2	Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we...	OMIM:616199
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Distal lower ...	OMIM:620068
Inclusion Body Myositis	Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red...	ORPHA:611
Merrf	Myopathy, Ragged-red muscle fibers, Optic atrophy, Ataxia	ORPHA:551
Myopathy, Myofibrillar, 5	Abnormal peripheral nervous system morphology, Myofibrillar myopathy, Muscle fiber cytoplasmatic ...	OMIM:609524
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Decreased n...	OMIM:618138
Nonaka Myopathy	Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu...	OMIM:605820
Charcot-Marie-Tooth Disease, Type 4A	Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe...	OMIM:214400
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l...	ORPHA:603
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Impaired vibratory sensation, Somatic sensory dysfunction, Ragged-red muscle fibers, Lower limb a...	OMIM:616924
Mitochondrial Myopathy With Diabetes	Ataxia, Facial palsy, Ragged-red muscle fibers, Limb muscle weakness, Proximal amyotrophy, Weakne...	OMIM:500002
Nemaline Myopathy 6	Skeletal muscle atrophy, Limb muscle weakness, Nemaline bodies, Myopathy	OMIM:609273
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7	Proximal muscle weakness in upper limbs, Scapular winging, Flexion contracture, Impaired tactile ...	OMIM:619216
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc...	ORPHA:602
Carnitine Deficiency, Myopathic	Myopathy, Reduced muscle carnitine level	OMIM:212160
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph...	OMIM:601596
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Elevated circulating creatine kinase concentration, Cardiomegaly, Cong...	OMIM:604765
Myopathy, Myofibrillar, 3	Myofibrillar myopathy, Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic...	OMIM:609200
Hereditary Myopathy With Early Respiratory Failure	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H...	ORPHA:178464
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle...	OMIM:618655
Myopathy, Autophagic Vacuolar, Infantile-Onset	Myopathy, Autophagic vacuoles	OMIM:609500
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Skeletal muscle atrophy, Peripheral axonal neuropathy, Axonal degeneration, Plantar flexion contr...	OMIM:620011
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Impaired distal vibration sens...	ORPHA:276435
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne...	OMIM:615424
Myopathy, Distal, 4	Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the...	OMIM:614065
Inclusion Body Myositis	Inflammatory myopathy, Rimmed vacuoles	OMIM:147421
Arthrogryposis Multiplex Congenita 2, Neurogenic Type	Skeletal muscle atrophy, Congenital contracture, Arthrogryposis multiplex congenita, Myopathy	OMIM:208100
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Peripheral axonal degene...	OMIM:302800
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Distal amyotrophy, Distal sensory impairment, Fiber type grouping	OMIM:614369
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
Charcot-Marie-Tooth Disease, Dominant Intermediate C	Decreased motor nerve conduction velocity, Hand muscle weakness, Distal sensory impairment, Upper...	OMIM:608323
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculat...	OMIM:181400
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, Type 2S	Axonal degeneration, Distal sensory impairment, Upper limb muscle weakness, Lower limb muscle wea...	OMIM:616155
Amyotrophic Lateral Sclerosis 4, Juvenile	Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Amyotrophic lateral scler...	OMIM:602433
Welander Distal Myopathy	Distal amyotrophy, Rimmed vacuoles	OMIM:604454
Distal Myopathy With Anterior Tibial Onset	Absent muscle fiber dysferlin, Somatic sensory dysfunction, Tibialis muscle weakness, Limb-girdle...	ORPHA:178400
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Myopathy, Ragged-red muscle fibers, Ataxia	OMIM:545000
Bethlem Myopathy 1	Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Camptodactyly of finger, A...	OMIM:158810
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Myopathy, Ataxia	ORPHA:2579
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Temporal ...	OMIM:167320
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk...	OMIM:254110
Spinal Muscular Atrophy, Type Iv	Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ...	OMIM:271150
Oculopharyngeal Muscular Dystrophy	Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology	ORPHA:270
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T...	OMIM:616313
Myopathy, Distal, Tateyama Type	Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ...	OMIM:614321
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy	OMIM:616209
Acetyl-Coa Carboxylase Deficiency	Myopathy	OMIM:613933
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ...	OMIM:618848
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl...	OMIM:618129
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra...	ORPHA:206549
Sandhoff Disease, Adult Form	Gait ataxia, Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Muscle fiber at...	ORPHA:309169
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:615490
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Peripheral axonal degeneration, Cerebellar atrophy, Ataxia, Decreased number of large peripheral ...	OMIM:208920
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Onion bulb formation, Angulated muscle fibers, Decreased number of large peripheral myelinated ne...	OMIM:608340
Myopathy, Vacuolar, With Casq1 Aggregates	Muscle fiber calsequestrin 1-containing inclusion bodies	OMIM:616231
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Dista...	OMIM:608673
Zebra Body Myopathy	Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle muscular dystr...	ORPHA:97240
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap...	OMIM:608358
Myopathy And Diabetes Mellitus	Distal lower limb amyotrophy, Impaired vibratory sensation, Peripheral axonal neuropathy, Achille...	ORPHA:2596
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Distal sensory impai...	OMIM:604484
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P...	OMIM:601954
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Ataxia, Acute rhabdomy...	OMIM:604168
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter	ORPHA:1878
Oculopharyngodistal Myopathy 2	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of...	OMIM:618940
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ...	ORPHA:34516
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates	Myopathy	ORPHA:88635
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2	EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy	OMIM:609283
Fingerprint Body Myopathy	Myopathy	OMIM:305550
Batten-Turner Congenital Myopathy	Myopathy	OMIM:255300
Ethanolaminosis	Cardiomegaly	OMIM:227150
Schizophrenia 15	Hyperactivity	OMIM:613950
Myopathy, Tubular Aggregate, 1	Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi...	OMIM:160565
Cardiomyopathy Associated With Myopathy And Sudden Death	Myopathy	OMIM:212130
Bethlem Myopathy 2	Myopathy, Scapular winging, Flexion contracture, Increased variability in muscle fiber diameter	OMIM:616471
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Decreased motor nerve conduction velocity, Hand muscle atrophy, Onion bulb formation, Decreased d...	OMIM:607684
Myasthenic Syndrome, Congenital, 25, Presynaptic	Myopathy, Decreased compound muscle action potential amplitude, Flexion contracture, Generalized ...	OMIM:618323
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi...	OMIM:620386
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc...	OMIM:612999
Myopathy, Distal, With Anterior Tibial Onset	Myopathy	OMIM:606768
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc...	ORPHA:266
Congenital Myopathy 4B, Autosomal Recessive	Distal lower limb amyotrophy, Flexion contracture, Facial diplegia, EMG: myopathic abnormalities,...	OMIM:609284
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Myopathy	ORPHA:206599
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers	OMIM:618992
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ...	ORPHA:2593
Mitochondrial Dna Depletion Syndrome 18	Hand muscle atrophy, Axonal degeneration, Distal amyotrophy, Weakness of facial musculature, Foot...	OMIM:618811
Leber Hereditary Optic Neuropathy	Myopathy, Optic atrophy, Ataxia	ORPHA:104
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E	Somatic sensory dysfunction, Peripheral axonal neuropathy, Decreased nerve conduction velocity, U...	ORPHA:99939
Congenital Myopathy With Myasthenic-Like Onset	Scapular winging, Multiple joint contractures, Rhabdomyolysis, Myopathy, Type 1 muscle fiber pred...	ORPHA:424107
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Myopathy, Type 1 muscle fiber...	OMIM:605355
Myasthenic Syndrome, Congenital, 17	Type 1 muscle fiber predominance	OMIM:616304
Neuropathy, Ataxia, And Retinitis Pigmentosa	Myopathy, Ataxia, Corticospinal tract atrophy	OMIM:551500
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Peripheral axonal degeneration, Spinal muscular atrophy, Camptodactyly of finger, Decreased nerve...	OMIM:604320
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic...	OMIM:608423
Multiminicore Myopathy	Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne...	ORPHA:598
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Frontalis muscle wea...	OMIM:300580
Autosomal Recessive Progressive External Ophthalmoplegia	Cerebellar atrophy, Scapular winging, Ataxia, Facial palsy, Hand muscle weakness, Ragged-red musc...	ORPHA:254886
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Rimmed ...	OMIM:612937
Myopathy, Sarcoplasmic Body	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus...	OMIM:620286
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans	Myopathy, Scapulohumeral muscular dystrophy	OMIM:160570
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12	Facial palsy, Quadriceps muscle atrophy, Calf muscle hypertrophy, Shoulder girdle muscle weakness...	OMIM:611307
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc...	OMIM:619477
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Amyotrophy, Hereditary Neuralgic	Peripheral axonal degeneration, Skeletal muscle atrophy, Brachial plexus neuropathy, Axonal degen...	OMIM:162100
Inclusion Body Myopathy And Brain White Matter Abnormalities	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:619733
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:605588
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca...	OMIM:608099
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ...	ORPHA:399058
Tibial Muscular Dystrophy, Tardive	EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles	OMIM:600334
Distal Nebulin Myopathy	Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m...	ORPHA:399103
Myasthenic Syndrome, Congenital, 5	Decreased muscle mass, Limb muscle weakness, Decreased size of nerve terminals, Myopathy, Type 1 ...	OMIM:603034
Myopathy, Centronuclear, 1	Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers...	OMIM:160150
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus...	ORPHA:488650
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Facial palsy, Decreased compound muscle action potential amplitude, Flexion contracture, Shoulder...	OMIM:603511
Adult-Onset Nemaline Myopathy	Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Type 1...	ORPHA:171442
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Skeletal muscle atrophy, Myopathy	ORPHA:2597
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo...	ORPHA:457050
Mitochondrial Complex I Deficiency, Nuclear Type 21	Myopathy, Ragged-red muscle fibers, Ataxia	OMIM:618242
Congenital Myopathy 6 With Ophthalmoplegia	Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ...	OMIM:605637
Spinal Muscular Atrophy, X-Linked 2	Multiple joint contractures, Facial palsy, Spinal muscular atrophy, Decreased compound muscle act...	OMIM:301830
Congenital Disorder Of Glycosylation, Type Iid	Myopathy, Decreased muscle mass	OMIM:607091
Muscle Filaminopathy	Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory muscle, EMG: m...	ORPHA:171445
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Myopathy	OMIM:613076
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Peripheral axonal degeneration, Skeletal muscle atrophy, Hand muscle weakness, Impaired distal pr...	ORPHA:101097
Nemaline Myopathy 8	Myofibrillar myopathy, Flexion contracture, Facial palsy, Nemaline bodies	OMIM:615348
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Myopathy, Increased variability in mu...	OMIM:125250
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Finnish Upper Limb-Onset Distal Myopathy	Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Distal sensory impairment, A...	ORPHA:399086
Myopathy, X-Linked, With Excessive Autophagy	Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ...	OMIM:310440
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency	Myopathy	OMIM:616314
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:301075
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:...	OMIM:253601
Mitochondrial Complex I Deficiency, Nuclear Type 25	Myopathy, Nemaline bodies	OMIM:618246
Spinocerebellar Ataxia With Epilepsy	Optic atrophy, Dysmetria, Gait ataxia, Myopathy, Progressive cerebellar ataxia, Dysdiadochokinesi...	ORPHA:254881
Charcot-Marie-Tooth Disease, Dominant Intermediate A	Skeletal muscle atrophy, Peripheral axonal neuropathy, Somatic sensory dysfunction, Limb muscle w...	OMIM:620378
Charcot-Marie-Tooth Disease, Dominant Intermediate D	Segmental peripheral demyelination/remyelination, Distal sensory impairment, Upper limb muscle we...	OMIM:607791
Congenital Myopathy 9B, Proximal, With Minicore Lesions	Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f...	OMIM:618823
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Thenar muscle atrophy, Dysmetria, Dysdiadochokinesis, Distal lower limb muscle weakness, Inteross...	OMIM:619903
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari...	OMIM:608807
Scapuloperoneal Myopathy, X-Linked Dominant	Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloperoneal myopathy,...	OMIM:300695
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity	OMIM:608443
Cardiomyopathy, Dilated, 1Gg	Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef...	OMIM:613642
Nemaline Myopathy 7	Fatty replacement of skeletal muscle, Knee flexion contracture, Shoulder girdle muscle weakness, ...	OMIM:610687
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Myopathy, Scapulohumeroperoneal	Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated...	OMIM:616852
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Skeletal muscle atrophy, Peripheral axonal neuropathy, Rhabdomyolysis, Ragged-red muscle fibers, ...	OMIM:617070
Moderate Multiminicore Disease With Hand Involvement	Facial palsy, Intrinsic hand muscle atrophy, Type 1 muscle fiber predominance	ORPHA:178145
Congenital Myopathy 5 With Cardiomyopathy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa...	OMIM:611705
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C...	OMIM:617760
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Myopathy	ORPHA:366
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Myopathy, Calf muscle hy...	ORPHA:86812
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f...	OMIM:615422
Amyotrophic Lateral Sclerosis 20	Amyotrophic lateral sclerosis, Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles	OMIM:615426
Isolated Glycerol Kinase Deficiency	Myopathy, EEG abnormality	ORPHA:408
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Peripheral axonal neuropathy, Facial palsy, Ankle flexion co...	OMIM:617519
Congenital Muscular Dystrophy Without Intellectual Disability	Cerebellar atrophy, Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle...	ORPHA:370980
Myopathy, Distal, 1	Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Ragged-red muscle fibers...	OMIM:160500
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu...	OMIM:601846
Creatine Phosphokinase, Elevated Serum	Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa...	OMIM:123320
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I...	OMIM:117000
Duane Anomaly-Myopathy-Scoliosis Syndrome	Myopathy	ORPHA:50817
Miyoshi Muscular Dystrophy 1	Distal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Deposits immunoreactive to bet...	OMIM:254130
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S...	OMIM:300696
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, Muscle fib...	OMIM:619178
Rhabdomyolysis, Susceptibility To, 1	Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,...	OMIM:620235
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Ataxia, Axonal degeneration, Impaired vibration sensation in the lower limbs, Impaired propriocep...	ORPHA:88628
Distal Myotilinopathy	EMG: myopathic abnormalities, Distal amyotrophy, Multiple joint contractures, Abnormal muscle fib...	ORPHA:98911
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ...	OMIM:603689
Congenital Myasthenic Syndromes With Glycosylation Defect	Scapular winging, Facial palsy, Generalized weakness of limb muscles, Limb-girdle muscle weakness...	ORPHA:353327
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Myopathy	OMIM:230450
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Central Core Disease	Multiple joint contractures, Myopathy, Type 1 muscle fiber predominance, Pelvic girdle muscle wea...	ORPHA:597
Myopathy, Myofibrillar, 4	Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles, Muscle fiber splitting	OMIM:609452
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Childhood-Onset Nemaline Myopathy	Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at...	ORPHA:171439
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Motor axonal neuropathy, Type 1 muscle fiber...	OMIM:618276
Rigid Spine Syndrome	Hip contracture, Skeletal muscle atrophy, Elbow flexion contracture, Hamstring contractures, Myop...	ORPHA:97244
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Abnormality of the calf musculature, Proximal muscle weakness in lower l...	ORPHA:59135
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Congenital Myopathy 23	Skeletal muscle atrophy, Scapular winging, Flexion contracture, Facial diplegia, Type 1 muscle fi...	OMIM:609285
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries	Central core regions in muscle fibers, Muscular dystrophy	OMIM:159050
Mitochondrial Myopathy, Lethal, Infantile	Myopathy	OMIM:551000
Myopathy, Distal, 3	Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contracture of the han...	OMIM:610099
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A...	OMIM:619566
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr...	OMIM:601494
Spinal Muscular Atrophy, Infantile, James Type	Hip contracture, Distal amyotrophy, Type 1 muscle fiber predominance, Increased variability in mu...	OMIM:619042
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Ataxia, Limb-girdle muscle weakness, Optic atrophy, Myopathy...	ORPHA:1215
Congenital Muscular Dystrophy, Fukuyama Type	Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Flexion contracture, Optic atro...	ORPHA:272
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Oculopharyngodistal Myopathy 3	Internally nucleated skeletal muscle fibers, Ataxia, Increased variability in muscle fiber diamet...	OMIM:619473
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Fatty replacement of skeletal muscle, Myopathy	OMIM:255100
Mitochondrial Complex I Deficiency, Nuclear Type 14	Myopathy, Optic atrophy, Brain atrophy	OMIM:618236
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculature	OMIM:617069
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability...	OMIM:613204
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Marinesco-Sjogren Syndrome	Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Centrally nucleated skeletal muscle fibers, ...	OMIM:248800
Mitochondrial Complex I Deficiency, Nuclear Type 15	Cerebellar atrophy, Myopathy, Flexion contracture, Optic atrophy	OMIM:618237
Myopathy, Myofibrillar, 6	Scapular winging, Facial palsy, Knee flexion contracture, Distal sensory impairment, Axonal loss,...	OMIM:612954
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Decreased nerve conduction velocity, Fatty replacement of skeletal muscle, Myopathy, Increased va...	ORPHA:397744
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr...	ORPHA:254864
Myopathy, Myofibrillar, 2	Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati...	OMIM:608810
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Myopathy, Limb muscle weakness, Type 2 muscle fiber atrophy	OMIM:605809
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy, Elbow flexion ...	OMIM:310300
Hypotonia, Infantile, With Psychomotor Retardation	Myopathy, Increased variability in muscle fiber diameter	OMIM:616816
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Spastic Paraplegia Type 7	Cerebellar atrophy, Optic disc pallor, Somatic sensory dysfunction, Ragged-red muscle fibers, Opt...	ORPHA:99013
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94090
Hereditary Continuous Muscle Fiber Activity	Ataxia, Congenital diaphragmatic hernia, Type 1 muscle fiber predominance	ORPHA:972
Myasthenic Syndrome, Congenital, 12	Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy	OMIM:610542
Myasthenic Syndrome, Congenital, 14	Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged...	OMIM:616228
Congenital Myopathy 1B, Autosomal Recessive	Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari...	OMIM:255320
Attrv122I Amyloidosis	Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr...	ORPHA:85451
Congenital Myopathy 10A, Severe Variant	Facial palsy, Abnormal motor nerve conduction velocity, Camptodactyly of finger, Increased variab...	OMIM:614399
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno...	OMIM:618654
Vocal Cord And Pharyngeal Distal Myopathy	Amyotrophic lateral sclerosis, Abnormal morphology of musculature of pharynx, Decreased nerve con...	ORPHA:600
Heart-Hand Syndrome, Slovenian Type	Myopathy	OMIM:610140
Adult-Onset Distal Myopathy Due To Vcp Mutation	Scapular winging, Abnormality of the musculature of the lower limbs, Decreased nerve conduction v...	ORPHA:329478
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Athetosis, Ragged-red muscle fibers, Ataxia	OMIM:615159
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary hyp...	OMIM:614096
Congenital Myopathy 3 With Rigid Spine	Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil...	OMIM:602771
Muscular Dystrophy, Limb-Girdle, Type 1H	Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ...	OMIM:613530
Mitochondrial Myopathy, Infantile, Transient	Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen...	OMIM:500009
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Amish Nemaline Myopathy	Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Type 1 muscle fiber predomina...	ORPHA:98902
Dna2-Related Mitochondrial Dna Deletion Syndrome	Limb-girdle muscle weakness, Multiple joint contractures, Myopathy	ORPHA:352470
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ...	ORPHA:1344
Infantile-Onset X-Linked Spinal Muscular Atrophy	Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal...	ORPHA:1145
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Fixed Subaortic Stenosis	Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Bicuspid aortic valve, Ven...	ORPHA:3092
Proximal Myopathy With Extrapyramidal Signs	Peripheral axonal neuropathy, Ataxia, Centrally nucleated skeletal muscle fibers, Chorea, Optic a...	ORPHA:401768
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Congenital Myopathy 18	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e...	OMIM:620246
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Centrally nucleated skelet...	OMIM:606070
Oculopharyngodistal Myopathy 4	Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ...	OMIM:619790
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Ragged-red muscle fibers, Limb muscle weakness, Cerebral atrophy, Facial diplegia, Generalized am...	OMIM:609560
Nemaline Myopathy 2	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Thenar muscle atrophy, Fatty replacement ...	OMIM:256030
Muscular Dystrophy, Congenital, Megaconial Type	Myopathy, Increased endomysial connective tissue, Facial palsy, Muscular dystrophy	OMIM:602541
Glutamate-Cysteine Ligase Deficiency	Myopathy, Ataxia	ORPHA:33574
Spinocerebellar Ataxia 28	Cerebellar atrophy, Somatic sensory dysfunction, Ragged-red muscle fibers, Limb ataxia, Gait atax...	OMIM:610246
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi...	OMIM:300718
Glycogen Storage Disease Ixd	Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn...	OMIM:300559
Myopathy, Centronuclear, 4	Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers	OMIM:614807
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Kn...	ORPHA:75840
Familial Isolated Dilated Cardiomyopathy	Myopathy	ORPHA:154
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Muscle fiber necrosi...	OMIM:253700
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ...	ORPHA:171433
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo...	OMIM:115197
Hyperlysinemia, Type I	Hyperactivity, Hyperlysinemia, Anemia	OMIM:238700
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
Cirrhotic Cardiomyopathy	Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Hepatom...	ORPHA:57777
Combined Oxidative Phosphorylation Deficiency 6	Skeletal muscle atrophy, Ragged-red muscle fibers	OMIM:300816
Severe X-Linked Mitochondrial Encephalomyopathy	Skeletal muscle atrophy, Sensory axonal neuropathy, Increased variability in muscle fiber diameter	ORPHA:238329
Short Chain Acyl-Coa Dehydrogenase Deficiency	Myopathy, Optic atrophy	ORPHA:26792
Nemaline Myopathy 5C, Autosomal Dominant	Skeletal muscle atrophy, Scapular winging, Quadriceps muscle weakness, Achilles tendon contractur...	OMIM:620389
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Cerebellar atrophy, Skeletal muscle atrophy, Facial palsy, Impaired distal proprioception, Ragged...	OMIM:258450
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Dysmetria, Gai...	OMIM:607459
Congenital Myopathy 10B, Mild Variant	Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contracture, Ragged-red ...	OMIM:620249
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi...	OMIM:300717
Myopathy Due To Myoadenylate Deaminase Deficiency	Skeletal muscle atrophy, Rhabdomyolysis, Myopathy	OMIM:615511
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Danon Disease	Wolff-Parkinson-White syndrome, Myocardial necrosis, Elevated circulating creatine kinase concent...	OMIM:300257
Combined Oxidative Phosphorylation Deficiency 24	Cerebellar atrophy, Skeletal muscle atrophy, Ragged-red muscle fibers, Optic atrophy, Myopathy, N...	OMIM:616239
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Calf muscle hypertrophy, Myopathy, Increased variability in muscle fiber diameter, Pelvic girdle ...	ORPHA:119
Kearns-Sayre Syndrome	Skeletal muscle atrophy, Ragged-red muscle fibers, Ataxia	ORPHA:480
Autoimmune Hypoparathyroidism	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	ORPHA:36913
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
X-Linked Immunoneurologic Disorder	Myopathy	ORPHA:2571
Muscular Dystrophy, Barnes Type	Myopathy, Muscular dystrophy	OMIM:158800
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter	OMIM:302045
Congenital Myopathy 14	Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ...	OMIM:618414
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7	Hypoglycosylation of alpha-dystroglycan, Scapular winging, Macroglossia, Calf muscle hypertrophy,...	OMIM:616052
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Cerebellar atrophy, Ataxia, Decreased number of large peripheral myelinated nerve fibers, Optic a...	OMIM:271245
Adducted Thumbs Syndrome	Myopathy, Arthrogryposis multiplex congenita	OMIM:201550
Mitochondrial Myopathy And Sideroblastic Anemia	Myopathy, Generalized limb muscle atrophy	ORPHA:2598
Dpm3-Cdg	Calf muscle hypertrophy, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness	ORPHA:263494
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Myopathy	ORPHA:1369
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Skeletal muscle atrophy, Myopathy	ORPHA:300179
Neutral Lipid Storage Disease With Myopathy	Myopathy, Increased muscle lipid content	OMIM:610717
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Skeletal muscle hypertrophy, Macroglossia, Myopathy	ORPHA:2349
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu...	ORPHA:98855
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakness of long finger extensor muscles...	ORPHA:98913
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Proximal muscle weakness in uppe...	OMIM:613954
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Facial palsy, Achilles tendon contracture, Elbow flexion contracture, Skeletal muscle hypertrophy...	OMIM:608840
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Flexion contracture, Myopathy	ORPHA:157973
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w...	ORPHA:353
Hypokalemic Periodic Paralysis, Type 2	Myopathy	OMIM:613345
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Weakness of facial musculature, Increased endomysial connective tissue, Increased variability in ...	OMIM:620265
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Cerebellar atrophy, Increased variability in muscle fiber diameter, Ataxia, Gait ataxia	OMIM:617915
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers	OMIM:540000
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Ataxia, Rhabdomyolysis, Ragged-red muscle fibers, Choreoathetosis, Weakness of facial musculature	OMIM:618416
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Scapular winging, Myositis, Proximal muscle weakness in lower limbs, Myo...	ORPHA:206569
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Dys...	ORPHA:94093
Striatonigral Degeneration, Infantile, Mitochondrial	Chorea, Ragged-red muscle fibers, Paroxysmal choreoathetosis	OMIM:500003
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Chorea, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy, Truncal ataxia, Muscle fibe...	ORPHA:369840
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Chorea, Cerebral atrophy, Myopathy, Limb-girdle muscular dystrophy, Truncal ataxia	ORPHA:369847
Leber Optic Atrophy	Myopathy, Ataxia, Optic atrophy, Optic neuropathy	OMIM:535000
Glycogen Storage Disease X	Myopathy, Rhabdomyolysis	OMIM:261670
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens...	OMIM:614473
Adrenomyeloneuropathy	Peripheral axonal degeneration, Atrophy/Degeneration involving the corticospinal tracts, Dysesthe...	ORPHA:139399
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C...	OMIM:617072
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Myopathy	ORPHA:91130
Cardiomyopathy, Dilated, 1X	Calf muscle hypertrophy, Increased variability in muscle fiber diameter	OMIM:611615
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Limb muscle weakness, In...	ORPHA:486815
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Hyperactivity, Aggressive behavior	OMIM:619031
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Decreased size of nerve terminals, ...	OMIM:608931
Glycogen Storage Disease Due To Aldolase A Deficiency	Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S...	ORPHA:57
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia	OMIM:612462
Hypophosphatasia, Childhood	Myopathy	OMIM:241510
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ca...	ORPHA:860
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Cerebellar atrophy, Skeletal muscle atrophy, Elbow contracture, Facial palsy, Achilles tendon con...	OMIM:606612
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Myopathy, Shoulder girdle muscle weakness, Generalized amyotrophy, Pelvic girdle muscle weakness	OMIM:615156
Congenital Myopathy 2A, Typical, Autosomal Dominant	Facial palsy, Limb muscle weakness, Type 1 muscle fiber predominance, Arthrogryposis multiplex co...	OMIM:161800
X-Linked Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu...	ORPHA:98863
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom...	ORPHA:439
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase...	OMIM:617066
Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu...	ORPHA:98853
Coenzyme Q10 Deficiency, Primary, 9	Type 2 muscle fiber predominance, Cerebellar atrophy, Ataxia, Dysmetria	OMIM:619028
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i...	OMIM:613157
Combined Oxidative Phosphorylation Defect Type 27	EEG with periodic lateralized epileptiform discharges, Ragged-red muscle fibers, Diffuse cerebell...	ORPHA:477774
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr...	ORPHA:254361
Autosomal Dominant Optic Atrophy, Classic Form	Cerebellar atrophy, Skeletal muscle atrophy, Scapular winging, Ataxia, Corpus callosum atrophy, O...	ORPHA:98673
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Cerebellar atrophy, Ragged-red muscle fibers, Myopathy, Generalized amyotrophy, Weakness of facia...	ORPHA:352447
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy	OMIM:607855
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at...	ORPHA:98905
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Amyotrophic lateral sclerosis, Fatty replacement of skeletal muscle, Cranial nerve compression, G...	ORPHA:52430
Myasthenic Syndrome, Congenital, 1A, Slow-Channel	Hand muscle atrophy, Intrinsic hand muscle atrophy, Decreased size of nerve terminals, Upper limb...	OMIM:601462
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle...	OMIM:181405
Attrv30M Amyloidosis	Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly	ORPHA:85447
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Congestive heart failure, Cardiomegaly	OMIM:300886
Severe Neurodegenerative Syndrome With Lipodystrophy	Caudate atrophy, Ataxia, Cerebral atrophy, Gait ataxia, Myopathy, Neuronal loss in central nervou...	ORPHA:363400
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Arthrogryposis multiplex congenita, Increased endomysial connective tissue, Flexion contracture, ...	ORPHA:178148
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ataxia, Ragged-red muscle fibers, Flexion contracture, Optic atrophy, Left ventricular noncompact...	OMIM:252011
Calciphylaxis	Hyperphosphatemia	ORPHA:280062
Typical Nemaline Myopathy	Facial palsy, Limb-girdle muscle weakness, Flexion contracture, Increased variability in muscle f...	ORPHA:171436
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m...	ORPHA:615
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al...	ORPHA:352479
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus...	OMIM:620138
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Hypophosphatemia	OMIM:241520
Phosphoglycerate Kinase 1 Deficiency	Myopathy, Rhabdomyolysis, Ataxia	OMIM:300653
Congenital Myopathy 16	EMG: myopathic abnormalities, Scapular winging, Flexion contracture	OMIM:618524
Congenital Myopathy 20	Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle...	OMIM:620310
Congenital Myopathy 24	Scapular winging, Nemaline bodies, Facial palsy, Type 1 muscle fiber predominance	OMIM:617336
Mitochondrial Complex I Deficiency, Nuclear Type 39	Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card...	OMIM:620135
Hyperprolinemia, Type I	Hyperactivity, Abnormal repetitive mannerisms, Hyperprolinemia, Aggressive behavior	OMIM:239500
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Increased variability in muscle fiber diameter, Ataxia, Increased intramyocellular lipid droplets	OMIM:619065
Muscle-Eye-Brain Disease	Myopathy, Optic atrophy, EEG abnormality	ORPHA:588
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Ragged-red muscle fibers, Dysmetria, Positiv...	OMIM:616479
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinemia	OMIM:605899
Acquired Partial Lipodystrophy	Myopathy	ORPHA:79087
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Skeletal muscle atrophy, Peripheral axonal neuropathy, Spinal muscular atrophy, Flexion contractu...	OMIM:616867
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:301008
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo...	OMIM:600649
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Distal lower limb amyotrophy, Impaired vibratory sensation, Thenar muscle atrophy, Impaired propr...	OMIM:500013
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome	Skeletal muscle atrophy, Myopathy, EEG abnormality	ORPHA:85329
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:241410
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox...	OMIM:614302
Ullrich Congenital Muscular Dystrophy 2	Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph...	OMIM:616470
Glycogen Storage Disease Iii	Myopathy, Distal amyotrophy	OMIM:232400
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Skeletal muscle atrophy, Myopathy, Spinal muscular atrophy, Weakness of facial musculature	ORPHA:254875
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyperalaninemia, Recurre...	OMIM:619170
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Cardiomegaly	ORPHA:88643
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Ventricula...	OMIM:601005
Marinesco-Sjögren Syndrome	Skeletal muscle atrophy, Ataxia, Optic atrophy, Myopathy, Muscular dystrophy, Aplasia/Hypoplasia ...	ORPHA:559
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Flexion contracture, Hypsarrhythmia, Brain atrophy, Muscle fiber atrophy, Cerebral cortical atrophy	OMIM:620240
Lipodystrophy, Familial Partial, Type 6	Skeletal muscle atrophy, Lower limb muscle weakness, Muscular dystrophy, Myopathy	OMIM:615980
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia	OMIM:103580
Myopathy, Centronuclear, 2	Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, ...	OMIM:255200
Myoclonus, Intractable, Neonatal	Optic disc pallor, Chorea, Athetosis, Increased variability in muscle fiber diameter	OMIM:617235
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Scapular winging, Decreased compound muscle action potential amplitude, Small thenar eminence, Di...	OMIM:620080
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotrop...	OMIM:255160
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Nemaline bodies, Flexion contracture, Myopathy	OMIM:616549
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Abnormal muscle fiber protein expression	ORPHA:330054
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Myasthenic Syndrome, Congenital, 1B, Fast-Channel	Facial palsy, Type 2 muscle fiber atrophy, Weakness of facial musculature, Limb muscle weakness, ...	OMIM:608930
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Cerebellar atrophy, Cerebral atrophy, Myopathy, Brain atrophy, Increased variability in muscle fi...	OMIM:604377
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Mitochondrial Complex I Deficiency, Nuclear Type 11	Myopathy	OMIM:618234
Combined Oxidative Phosphorylation Deficiency 28	Ragged-red muscle fibers	OMIM:616794
Combined Oxidative Phosphorylation Defect Type 29	Optic neuropathy, Axonal degeneration, Neurodegeneration, Abnormal autonomic nervous system physi...	ORPHA:478029
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,...	OMIM:616812
Myopathy, Myofibrillar, 7	Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul...	OMIM:617114
Bethlem Myopathy	Scapular winging, Multiple joint contractures, Reduced muscle collagen VI, Interphalangeal joint ...	ORPHA:610
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5	Myopathy, Ataxia, Gait ataxia	OMIM:613077
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Congestive heart ...	OMIM:212140
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Hyperphosphatemia	OMIM:211900
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc...	OMIM:226670
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,...	ORPHA:398063
Amyotrophic Lateral Sclerosis 27, Juvenile	Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Intrinsic hand muscle atrop...	OMIM:620285
Hypokalemic Periodic Paralysis, Type 1	Myopathy	OMIM:170400
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:617113
Cap Myopathy	Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Generalized amyotrophy, In...	ORPHA:171881
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variability in muscle ...	OMIM:618484
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Peripheral axonal neuropathy, Centrally nucleated skelet...	ORPHA:169189
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Elevated circulating creatine kinase concentration, Left atrial enlargem...	OMIM:300280
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Anemia	OMIM:127000
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Pseudohypoparathyroidism Type 1B	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94089
Phenylketonuria	Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Compulsive behaviors, Hyperph...	OMIM:261600
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Ragged-red muscle fibers, Limb muscle weakness, Cerebral atrophy, Sensory ataxia, EMG: myopathic ...	OMIM:609286
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Hyperammonemia, Pleural effusion, Bradycardia, Hyperalaninemi...	OMIM:614702
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Skeletal muscle atrophy, Facial palsy, Impaired distal proprioception, Ragged-red muscle fibers, ...	OMIM:157640
King-Denborough Syndrome	Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Muscle fiber atroph...	OMIM:619542
Hemochromatosis, Type 1	Hepatomegaly, Cardiomegaly, Congestive heart failure, Increased circulating ferritin concentratio...	OMIM:235200
Sanjad-Sakati Syndrome	Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Mcleod Syndrome	Chorea, Rhabdomyolysis, Myopathy, Motor axonal neuropathy, Impaired vibration sensation at ankles	OMIM:300842
Myopathy, Myofibrillar, 1	EMG: myopathic abnormalities, Facial palsy	OMIM:601419
Autosomal Dominant Hypocalcemia	Alopecia, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Mitochondrial Dna Depletion Syndrome 11	Cerebellar atrophy, Facial palsy, Ragged-red muscle fibers, Proximal amyotrophy, Generalized amyo...	OMIM:615084
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Cardiomegaly, Hyperprolinemia, Pulmonary arterial hypertension, Hyperalaninemia	OMIM:619064
Combined Oxidative Phosphorylation Deficiency 29	Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Global brain atrophy	OMIM:616811
Cerebrotendinous Xanthomatosis	Cerebellar atrophy, Optic disc pallor, Somatic sensory dysfunction, Ataxia, Abnormal auditory evo...	ORPHA:909
Congenital Myopathy 15	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Type 1 musc...	OMIM:620161
Combined Oxidative Phosphorylation Deficiency 31	Increased variability in muscle fiber diameter, Left ventricular noncompaction, Increased intramy...	OMIM:617228
Carcinoid Syndrome	Pulmonary carcinoid tumor, Myopathy, Small intestine carcinoid, Paraganglioma, Atypical pulmonary...	ORPHA:100093
Combined Oxidative Phosphorylation Defect Type 13	Hip contracture, Ankle flexion contracture, Decreased nerve conduction velocity, Choreoathetosis,...	ORPHA:319514
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Hyperammonemia, Pulmonary arteria...	OMIM:619051
X-Linked Centronuclear Myopathy	Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Weakness of...	ORPHA:596
Paget Disease Of Bone 5, Juvenile-Onset	Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia	OMIM:239000
Benign Samaritan Congenital Myopathy	Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers	ORPHA:324581
Pseudohypoparathyroidism Type 1C	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Polyphagia, Hypocalcemic seizures	ORPHA:79444
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Congestive heart failure, Splenomegaly	OMIM:269920
Congenital Myopathy 4A, Autosomal Dominant	Type 1 fibers relatively smaller than type 2 fibers, Limb joint contracture, Facial palsy, Centra...	OMIM:255310
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myopathy, Rhabdomyolysis, Ataxia	ORPHA:713
Combined Oxidative Phosphorylation Deficiency 49	Ragged-red muscle fibers	OMIM:619024
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Reduced muscle collagen VI, Facial palsy, Flexion contracture, Muscle fiber necrosis...	OMIM:254090
Chanarin-Dorfman Syndrome	Myopathy, Ataxia	OMIM:275630
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f...	ORPHA:1677
Intellectual Developmental Disorder, Autosomal Dominant 67	Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder	OMIM:619927
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Myopathy	ORPHA:166002
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Elevated circulating cre...	ORPHA:268
Combined Oxidative Phosphorylation Deficiency 20	Hyperalaninemia, Hypertrophic cardiomyopathy, Left ventricular noncompaction	OMIM:615917
Myopathy With Lactic Acidosis, Hereditary	Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Increased intramyocellular lipid droplets, Inc...	OMIM:255125
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Impaired temperature sensation, Centrally nucleated skeletal muscle fibers, Impaired pain sensati...	OMIM:619574
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Distal arthrogryposis, Ataxia, Myopathy	ORPHA:42
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased motor nerve conduction velocity, Decreased muscle mass, Peripheral axonal neuropathy, D...	ORPHA:298
Refsum Disease, Classic	Cardiomegaly, Congestive heart failure, Elevated circulating phytanic acid concentration, Limb mu...	OMIM:266500
Optic Atrophy 11	Ataxia, Optic nerve hypoplasia, Optic atrophy, EEG with focal sharp waves, Dysmetria, Facial dipl...	OMIM:617302
Myofibrillar Myopathy 10	Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Left ventricular ...	OMIM:619040
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Peripheral axonal neuropathy, Spinal muscular atrophy, Flexion contracture, Increased variability...	OMIM:616866
Tropical Endomyocardial Fibrosis	Increased circulating interleukin 6 concentration, Prolonged QRS complex, Restrictive cardiomyopa...	ORPHA:75565
Lethal Congenital Contracture Syndrome 5	Centrally nucleated skeletal muscle fibers, Decreased nerve conduction velocity, EEG with burst s...	OMIM:615368
Hyperkalemic Periodic Paralysis	Skeletal muscle atrophy, Flexion contracture, Skeletal muscle hypertrophy, Myopathy, Paresthesia	ORPHA:682
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent fo...	OMIM:618652
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Ragged-red muscle fibers, Ataxia	OMIM:613662
Isolated Succinate-Coq Reductase Deficiency	Skeletal muscle atrophy, Ataxia, Knee flexion contracture, Distal amyotrophy, Skeletal myopathy, ...	ORPHA:3208
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Left v...	OMIM:616501
Classic Multiminicore Myopathy	Absent muscle fiber merosin, Multiple joint contractures, Increased muscle lipid content, General...	ORPHA:324604
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB...	OMIM:232300
Myoglobinuria, Recurrent	Ragged-red muscle fibers	OMIM:550500
Synaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Decreased size of ...	ORPHA:98915
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Faci...	ORPHA:169186
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia	ORPHA:423
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Autosomal Dominant Hypophosphatemic Rickets	Iron deficiency anemia, Hypocalcemia, Tooth abscess, Hypophosphatemia	ORPHA:89937
Neuromuscular Oculoauditory Syndrome	Decreased nerve conduction velocity, Knee flexion contracture, Calf muscle hypertrophy, Muscle fi...	OMIM:618733
Sengers Syndrome	Myopathy	OMIM:212350
Pseudohypoparathyroidism Type 1A	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Polyphagia, Hypocalcemic seizures	ORPHA:79443
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Hypophosphatemia	OMIM:193100
Axial Osteomalacia	Myopathy	OMIM:109130
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove...	ORPHA:324410
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T...	OMIM:255120
Hemorrhagic Fever-Renal Syndrome	Leukocytosis, Elevated circulating creatinine concentration, Hyperkalemia, Anemia, Hyperphosphate...	ORPHA:340
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Facial hypotonia, Elevated circulating creatine kinase concentration, Cardiomegaly,...	ORPHA:308552
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Impaired vibratory sensation, Impaired distal proprioception, Ragged-red muscle fibers, Gait atax...	ORPHA:70595
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Somatic sensory dysfunction, Increased variability in muscle fiber diameter, D...	ORPHA:502423
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension...	ORPHA:1457
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,...	OMIM:261740
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue	ORPHA:663
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Left ventricular ...	OMIM:615418
Myopathy, Myofibrillar, 8	Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contracture, Joint ...	OMIM:617258
Hypophosphatemic Bone Disease	Hypophosphatemia	OMIM:146350
Colchicine Poisoning	Hyponatremia, Alopecia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokal...	ORPHA:31824
Absence Of The Pulmonary Artery	Cardiomegaly, Atrial septal defect, Patent foramen ovale, Abnormal EKG, Bronchiectasis, Abnormal ...	ORPHA:980
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Right atrial enlargeme...	ORPHA:555874
Myotubular Myopathy With Abnormal Genital Development	Myopathy, Centrally nucleated skeletal muscle fibers	OMIM:300219
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase concentration...	OMIM:201475
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Ragged-red muscle fibers, Generalized amyotrophy	OMIM:613561
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constricti...	OMIM:253250
Acrodysostosis 1 With Or Without Hormone Resistance	Hyperphosphatemia	OMIM:101800
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgitation, Left ventric...	OMIM:619167
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri...	OMIM:619827
Chylomicron Retention Disease	Myopathy, EMG: myopathic abnormalities, Impaired proprioception	ORPHA:71
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Anemia	ORPHA:93325
Hypokalemic Periodic Paralysis	Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology	ORPHA:681
Dent Disease 2	Elevated circulating creatine kinase concentration, Hypophosphatemia	OMIM:300555
De Sanctis-Cacchione Syndrome	Ataxia, Axonal degeneration, Optic atrophy, Cerebral atrophy, Choreoathetosis, Global brain atrophy	OMIM:278800
Angioedema, Hereditary, 1	Hypoesthesia, Peripheral axonal neuropathy, Axonal degeneration	OMIM:106100
Linear Verrucous Nevus Syndrome	Sparse scalp hair, Hypophosphatemia	ORPHA:2611
Familial Partial Lipodystrophy, Dunnigan Type	Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size	ORPHA:2348
Neutral Lipid Storage Disease With Ichthyosis	Ataxia, Central nervous system degeneration, Myopathy, Shoulder girdle muscle weakness, Increased...	ORPHA:98907
Myopathy, Centronuclear, 5	Hip contracture, Weakness of facial musculature, Centrally nucleated skeletal muscle fibers	OMIM:615959
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Weakness of facial musculature, Flexion contracture, Ataxia, Myopathy	OMIM:201470
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiac arrest, Elevated circulating creatine kinase concentration, Cardiomegaly, C...	OMIM:617713
Immunodeficiency 10	Myopathy	OMIM:612783
Oculogastrointestinal Muscular Dystrophy	Skeletal muscle atrophy, Myopathy	ORPHA:1876
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Asymmetri...	OMIM:252920
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Nodular pattern on pulmonary HRCT, Cardiomegaly, Diffuse alveolar hemorrhage, Heart...	ORPHA:99931
Pparg-Related Familial Partial Lipodystrophy	Skeletal muscle hypertrophy, Myopathy, Calf muscle pseudohypertrophy, Abnormality of skeletal mus...	ORPHA:79083
Lethal Congenital Contracture Syndrome 9	Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo...	OMIM:616503
Congenital Myopathy 21 With Early Respiratory Failure	EMG: myopathic abnormalities, Brain atrophy	OMIM:620326
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Rimmed vacuoles, Skeletal muscle autophagosome accumulation, Centrally nucleated skeletal muscle ...	OMIM:619518
Cystinosis	Hypokalemia, Polydipsia, Abnormal repetitive mannerisms, Hypophosphatemia	ORPHA:213
Autosomal Dominant Progressive External Ophthalmoplegia	Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Facial palsy, Quadriceps muscle weaknes...	ORPHA:254892
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypercalcemia, Splenomegaly, Hypophosphatemia, Polydipsia, Anemia	OMIM:239200
Familial Isolated Hypoparathyroidism	Myopathy	ORPHA:2238
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors	ORPHA:101039
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Hypophosphatemia	OMIM:618913
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	EEG with burst suppression, Type 1 muscle fiber atrophy, Cerebral atrophy, Hypsarrhythmia, Type 2...	OMIM:619036
Greig Cephalopolysyndactyly Syndrome	Camptodactyly of toe, Joint contracture of the hand, Abnormal muscle fiber morphology	OMIM:175700
Adrenomyodystrophy	Myopathy	ORPHA:977
Juvenile Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Ataxia, Chorea, Upper-limb joint contract...	ORPHA:300605
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Ragged-red muscle fibers, Ataxia	ORPHA:1349
Pseudo-Torch Syndrome 3	Hypertension, Increased circulating ferritin concentration, Cerebral hemorrhage, Cardiomegaly	OMIM:618886
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morphology	ORPHA:3068
Severe Congenital Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ...	ORPHA:171430
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Skeletal muscle atrophy, Limb-girdle muscle weakness, Myopathy, Limb muscle weakness	OMIM:112250
Xanthinuria, Type I	Myopathy	OMIM:278300
Idiopathic Camptocormia	Myositis, Amyotrophic lateral sclerosis, Fatty replacement of skeletal muscle, Abnormal muscle fi...	ORPHA:1320
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia...	ORPHA:466650
Neuraminidase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Splenomegaly, Cardiomyopathy	OMIM:256550
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hypophosphatemia	OMIM:612287
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Skeletal muscle atrophy, Flexion contracture, Abnormal muscle glycogen content, Myopathy	ORPHA:367
Melas	Peripheral axonal neuropathy, Ataxia, Ragged-red muscle fibers, Optic atrophy, Myopathy, EEG abno...	ORPHA:550
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis,...	ORPHA:3427
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertensi...	OMIM:208000
Leigh Syndrome	Cerebellar atrophy, Skeletal muscle atrophy, Multiple joint contractures, Ataxia, Chorea, Optic a...	ORPHA:506
Scleromyxedema	Myopathy, Abnormality of central nervous system electrophysiology, Abnormal skeletal muscle morph...	ORPHA:167635
Neurodegeneration And Seizures Due To Copper Transport Defect	Tricuspid regurgitation, Cardiomegaly, Pneumothorax, Abnormal circulating ceruloplasmin concentra...	OMIM:620306
Arthrogryposis Multiplex Congenita 6	Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congenita	OMIM:619334
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Myopathy	ORPHA:257
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Decreased muscle mass, Portal hypertension, Cardiomegaly, Congestive heart failure,...	ORPHA:465508
Immunodeficiency 9	Myopathy	OMIM:612782
Oculopharyngodistal Myopathy 1	Autophagic vacuoles, Facial palsy, Ataxia, Distal amyotrophy, Brain atrophy, Increased variabilit...	OMIM:164310
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly	ORPHA:858
Combined Oxidative Phosphorylation Deficiency 55	Elevated circulating creatine kinase concentration, Hypophosphatemia, Anemia, Hypomagnesemia, Hyp...	OMIM:619743
Carey-Fineman-Ziter Syndrome	Skeletal muscle atrophy, Aplasia of the pectoralis major muscle, Myopathy, Facial palsy	ORPHA:1358
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Hypokalemia, Self-biting, Hypomagnesemia	OMIM:618314
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemia	OMIM:612286
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities	Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, EEG abnormality	OMIM:619173
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Hypophosphatemia	OMIM:308990
Truncus Arteriosus	Aortic regurgitation, Atrial septal defect, Tachycardia, Pulmonary edema, Ventricular septal defe...	ORPHA:3384
Combined Oxidative Phosphorylation Deficiency 41	Elevated circulating creatine kinase concentration, Cardiomegaly	OMIM:618838
Neutral Lipid Storage Myopathy	Hand muscle weakness, Fatty replacement of skeletal muscle, Generalized limb muscle atrophy, Myop...	ORPHA:98908
Early-Onset Autosomal Dominant Alzheimer Disease	Ataxia, Cerebral cortical atrophy, Deposits immunoreactive to beta-amyloid protein	ORPHA:1020
Caribbean Parkinsonism	Orthostatic hypotension, Progressive gait ataxia, Abnormal autonomic nervous system physiology, A...	ORPHA:97355
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Hypoph...	ORPHA:157215
Combined Oxidative Phosphorylation Deficiency 11	Myopathy, Cerebral cortical atrophy	OMIM:614922
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increased endomysial connecti...	OMIM:620278
Familial Aortic Dissection	Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly	ORPHA:229
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Myopathy, Rhabdomyolysis	ORPHA:228305
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	EMG: myopathic abnormalities	ORPHA:457365
Congenital Myasthenic Syndrome	EEG with polyspike wave complexes, Ataxia, Limb-girdle muscle weakness, Distal amyotrophy, Muscle...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	EEG with polyspike wave complexes, Ataxia, Limb-girdle muscle weakness, Distal amyotrophy, Muscle...	ORPHA:98914
Usher Syndrome	Myopathy, Ataxia, Cerebral cortical atrophy	ORPHA:886
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep...	ORPHA:363705
Congenital Myopathy 22A, Classic	Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon co...	OMIM:620351
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia	OMIM:241530
Hypotonia-Cystinuria Syndrome	Ragged-red muscle fibers, Facial palsy	OMIM:606407
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia, Hypocalcemia, Hypophosphatemia	ORPHA:93160
Congenital Myopathy 9A	EMG: myopathic abnormalities	OMIM:618822
Neurodegeneration With Brain Iron Accumulation 1	Decreased muscle mass, Ataxia, Optic atrophy, Choreoathetosis, Myopathy, Neurodegeneration, Cereb...	OMIM:234200
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Cardiomegaly, Flexion contracture, Hypertrophic cardiomyopathy, Pulmon...	OMIM:616897
Glycogen Storage Disease Xii	Myopathy, Increased variability in muscle fiber diameter, Muscle fiber splitting	OMIM:611881
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Hypophosphatemia	OMIM:600081
Myopathy, Mitochondrial, And Ataxia	Ataxia, Dysmetria, Limb ataxia, Distal sensory impairment, Distal amyotrophy, Dysdiadochokinesis,...	OMIM:617675
Triosephosphate Isomerase Deficiency	Optic disc pallor, Myopathy, Skeletal muscle atrophy, Cerebral atrophy	OMIM:615512
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Decreased muscle mass, Decreased muscle glycogen content, Upper limb muscle weakness, Shoulder gi...	ORPHA:263297
Carey-Fineman-Ziter Syndrome 1	Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Flexion contracture, Myopat...	OMIM:254940
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hip contracture, Elbow flexion contracture, Knee flexion contracture, EEG abnormality, Hyperesthe...	ORPHA:371364
Fanconi Renotubular Syndrome 1	Hypokalemia, Hypophosphatemia	OMIM:134600
Mitochondrial Trifunctional Protein Deficiency 1	Myopathy, Rhabdomyolysis	OMIM:609015
Glycogen Storage Disease Xv	Scapular winging, Type 1 muscle fiber predominance	OMIM:613507
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Muscle fiber atrophy, Rhabdomyolysis, Increased muscle lipid content	ORPHA:228302
Wolfram Syndrome	Ataxia, Optic atrophy, Myopathy, Abnormal autonomic nervous system physiology, Cerebral cortical ...	ORPHA:3463
Vitamin D-Dependent Rickets, Type 2A	Alopecia universalis, Hypocalcemic seizures, Hypophosphatemia	OMIM:277440
Alpha-N-Acetylgalactosaminidase Deficiency	Recurrent pneumonia, Cardiomegaly	ORPHA:3137
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame...	OMIM:619461
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Tachycardia, Ventricular septal defect, Elevated circulating creatine kinase concen...	OMIM:614921
Acyl-Coa Dehydrogenase 9 Deficiency	Myopathy, EMG: myopathic abnormalities	ORPHA:99901
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hyperactivity, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T...	ORPHA:760
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	OMIM:264700
Xp21 Deletion Syndrome	Calf muscle hypertrophy, Myopathy, Decreased muscle mass	ORPHA:261476
Coenzyme Q10 Deficiency, Primary, 1	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Ragged-red muscle fibers, Decreased level o...	OMIM:607426
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia	OMIM:307800
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly	ORPHA:391428
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Limb muscle weakness, Congestive heart failure, Cardiomegaly	OMIM:619259
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,...	OMIM:231005
Cantu Syndrome	Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly	OMIM:239850
Kanzaki Disease	Peripheral axonal neuropathy, Axonal degeneration, Cerebral atrophy, Distal sensory impairment	OMIM:609242
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Heart block, Elev...	ORPHA:228308
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Impaired myocardial contractility, Hypovolemic shock, Cardiomyopathy, Camptodactyly...	ORPHA:158687
Pseudoachondroplasia	Skeletal myopathy	ORPHA:750
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Impaired vibratory sensation, Decreased muscle mass, Peripheral axonal neuropathy, Elbow flexion ...	ORPHA:1900
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo...	OMIM:608836
Abetalipoproteinemia	Impaired vibratory sensation, Ataxia, Impaired distal proprioception, Impaired proprioception, Dy...	ORPHA:14
Paramyotonia Congenita Of Von Eulenburg	Facial muscle hypertrophy, EMG: myopathic abnormalities	ORPHA:684
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Hypertension, Pulmonary arterial hypertension, Cardiomegaly	OMIM:613320
Combined Immunodeficiency Due To Crac Channel Dysfunction	Myopathy	ORPHA:169090
Diaphragmatic Hernia 2	Agenesis of the diaphragm, Congenital diaphragmatic hernia	OMIM:222400
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V...	ORPHA:137675
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c...	OMIM:306955
Stormorken Syndrome	Myopathy	OMIM:185070
Congenital Tracheomalacia	Ventricular septal defect, Pneumonia, Cardiomegaly, Partial anomalous pulmonary venous return, Pn...	ORPHA:95430
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce...	ORPHA:411634
Multiple Endocrine Neoplasia, Type Iib	Ganglioneuroma, Myopathy, Aganglionic megacolon, Pheochromocytoma	OMIM:162300
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Scapular winging, Ragged-red muscle fibers, Generalized limb muscle atrophy	OMIM:600462
Fanconi-Bickel Syndrome	Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent...	OMIM:227810
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Transient ischemic attack, Elevated circulating creatine kinase concentration, Glyc...	ORPHA:365
Snakebite Envenomation	Rhabdomyolysis, Muscle fiber necrosis	ORPHA:449285
Choreoacanthocytosis	Impaired vibratory sensation, Decreased number of peripheral myelinated nerve fibers, Caudate atr...	ORPHA:2388
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Musculocontractural Ehlers-Danlos Syndrome	Dysesthesia, Arthrogryposis multiplex congenita, Decreased muscle mass, Myopathy	ORPHA:2953
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Hypophosphatemia	OMIM:616026
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemic rickets, Hypophosphatemia	OMIM:300554
Fanconi Renotubular Syndrome 2	Hypophosphatemia	OMIM:613388
Hereditary Xanthinuria	Myopathy	ORPHA:3467
Alpha-Mannosidosis, Infantile Form	Cerebellar atrophy, Optic disc pallor, Facial hypotonia, Ataxia, Macroglossia, Myopathy, Subcorti...	ORPHA:309282
Ehlers-Danlos Syndrome, Classic-Like	Proximal amyotrophy, Muscle fiber splitting	OMIM:606408
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Increased endomysial connective tissue, Flexion contracture, Optic atrophy, Muscular dystrophy	OMIM:613154
Sandhoff Disease	Hepatomegaly, Orthostatic hypotension, Skeletal muscle atrophy, Cardiomegaly, Hepatosplenomegaly,...	OMIM:268800
Pearson Syndrome	Reticulocytosis, Pancytopenia, Splenomegaly, Hypomagnesemia, Dysphagia, Hypophosphatemia, Anemia,...	ORPHA:699
Metaphyseal Chondrodysplasia, Jansen Type	Hypercalcemia, Hypophosphatemia	OMIM:156400
Beck-Fahrner Syndrome	Facial hypotonia, Ventricular septal defect, Cardiomegaly	OMIM:618798
Localized Scleroderma	Skeletal muscle atrophy, Flexion contracture, Myopathy	ORPHA:90289
Hypocalcemic Vitamin D-Dependent Rickets	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	ORPHA:289157
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Lethal Congenital Contracture Syndrome 10	Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Pulmonary h...	OMIM:617022
Kearns-Sayre Syndrome	Ragged-red muscle fibers, Ataxia	OMIM:530000
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia	ORPHA:352540
Heart Block, Congenital	Atrioventricular block, Myocardial fibrosis, Absent atrioventricular node, Myocardial calcificati...	OMIM:234700
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Skeletal muscle hypertrophy, Myopathy, Proximal upper limb muscle hypertrophy, Muscle hypertrophy...	ORPHA:280365
Mogs-Cdg	Hepatomegaly, Atrial septal defect, Pulmonary edema, Cardiomegaly, Decreased circulating antibody...	ORPHA:79330
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Ataxia, Acute rhabdomyolysis, Optic atrophy, EMG: myopathic abnormalities, Global brain atrophy	ORPHA:480864
Stromme Syndrome	Myopathy, Optic nerve hypoplasia	OMIM:243605
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Splenomegaly, Elb...	OMIM:602782
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Pulmonary edema, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly	OMIM:105210
Infantile Nephropathic Cystinosis	Hypokalemia, Polydipsia, Abnormal blood ion concentration, Hypophosphatemia	ORPHA:411629
Cystinosis, Nephropathic	Hyponatremia, Hypopigmentation of hair, Oral-pharyngeal dysphagia, Splenomegaly, Reduced blood ur...	OMIM:219800
Mitochondrial Trifunctional Protein Deficiency	Left ventricular hypertrophy, Skeletal myopathy, Rhabdomyolysis, Lower limb muscle weakness	ORPHA:746
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Skeletal muscle atrophy, Myopathy, Type 1 muscle fiber predominance	OMIM:614557
Myasthenia, Limb-Girdle, Autoimmune	Type 2 muscle fiber atrophy, Proximal amyotrophy	OMIM:159400
Primary Triglyceride Deposit Cardiomyovasculopathy	Increased muscle lipid content, Abnormality of the calf musculature, Skeletal myopathy, Abnormali...	ORPHA:565612
Congenital Myopathy 17	Diaphragmatic eventration, Distal arthrogryposis, Myopathy	OMIM:618975
Carnitine Palmitoyltransferase Ii Deficiency	Myopathy, Rhabdomyolysis	ORPHA:157
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Hypophosphatemia	ORPHA:2088
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ...	ORPHA:91387
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Macroglossia, Pontocere...	ORPHA:258
Acquired Generalized Lipodystrophy	Myopathy, Calf muscle pseudohypertrophy	ORPHA:79086
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Sparse scalp hair, Hypoammonemia, Thrombocytopenia, Fine hair, Self-injurious behav...	ORPHA:534
Sickle Cell Disease	Splenomegaly, Hypertension, Cardiomegaly, Hepatomegaly	OMIM:603903
Polymyositis	Abnormal muscle fiber morphology	ORPHA:732
Hereditary Fructose Intolerance	Hypermagnesemia, Hyperuricemia, Hypophosphatemia	ORPHA:469
Histidinemia	Hyperactivity, Hyperhistidinemia	ORPHA:2157
Hereditary Amyloidosis With Primary Renal Involvement	Myopathy	ORPHA:85450
Bannayan-Riley-Ruvalcaba Syndrome	Skeletal muscle atrophy, Myopathy	ORPHA:109
Cantú Syndrome	Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Dent Disease 1	Hypophosphatemia	OMIM:300009
Raine Syndrome	Neonatal death, Highly arched eyebrow, Hypophosphatemia	OMIM:259775
Thyrotoxic Periodic Paralysis	Abnormal muscle fiber morphology, Rhabdomyolysis, Increased intramyocellular lipid droplets, Lowe...	ORPHA:79102
Lipodystrophy, Congenital Generalized, Type 4	Centrally nucleated skeletal muscle fibers, Flexion contracture, Skeletal muscle hypertrophy, Mus...	OMIM:613327
Mccune-Albright Syndrome	Pancytopenia, Hypophosphatemia	ORPHA:562
Oculoauriculovertebral Spectrum With Radial Defects	EMG: myopathic abnormalities	ORPHA:2549
Barth Syndrome	Skeletal myopathy	OMIM:302060
Schwartz-Jampel Syndrome	Hip contracture, Skeletal muscle atrophy, Shoulder flexion contracture, Skeletal muscle hypertrop...	ORPHA:800
Native American Myopathy	Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Congenital contracture, Campt...	ORPHA:168572
Opsismodysplasia	Hypophosphatemia	OMIM:258480
Overlap Myositis	Perifascicular muscle fiber atrophy, Proximal muscle weakness in upper limbs, Distal lower limb m...	ORPHA:206572
Fucosidosis	Hepatomegaly, Decreased muscle mass, Cardiomegaly	ORPHA:349
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Hepatomegaly, Increased serum beta-hexosaminidase, Recurrent bronchitis, Ca...	OMIM:252500
Mitochondrial Dna-Associated Leigh Syndrome	Ataxia, Segmental peripheral demyelination/remyelination, Chorea, Ragged-red muscle fibers, Optic...	ORPHA:255210
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Small hypothenar eminence, Hypoplasia of the musculature, Cardiomegaly, Thenar muscle atrophy, Mu...	ORPHA:2463
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly	ORPHA:79280
Primary Fanconi Renotubular Syndrome	Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc...	ORPHA:3337
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Skeletal muscle atrophy, Ragged-red muscle fibers, Flexion contracture, Rhabdomyolysis, Cerebral ...	ORPHA:17
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Skele...	OMIM:256040
Alport Syndrome 3A, Autosomal Dominant	Azotemia, Hypophosphatemia	OMIM:104200
Hyperparathyroidism-Jaw Tumor Syndrome	Polydipsia, Hypercalcemia, Dysphagia, Hypophosphatemia	ORPHA:99880
Homozygous Familial Hypercholesterolemia	Angina pectoris, Sudden cardiac death, Myocardial infarction, Hyperlipidemia, Tendon xanthomatosi...	ORPHA:391665
Parathyroid Carcinoma	Polydipsia, Hypercalcemia, Dysphagia, Hypophosphatemia	ORPHA:143
Autosomal Recessive Malignant Osteopetrosis	Abnormality of hair texture, Splenomegaly, Hypocalcemia, Hypophosphatemia, Anemia	ORPHA:667
Fibrous Dysplasia Of Bone	Hypercalcemia, Hypophosphatemia	ORPHA:249
Glycerol Kinase Deficiency	Myopathy, Muscular dystrophy	OMIM:307030
Mitochondrial Complex I Deficiency, Nuclear Type 1	Cerebellar atrophy, Optic disc pallor, Skeletal muscle atrophy, Ataxia, Optic neuropathy, Ragged-...	OMIM:252010
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Pulmonary hypoplasia, Arthrogryposi...	OMIM:608013
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures	ORPHA:405
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Hypoesthesia, Distal amyotrophy, Ragged-red muscle fibers, Distal sensory impairment	OMIM:603041
Vici Syndrome	Left ventricular hypertrophy, Myopathy	OMIM:242840
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Atelectasi...	OMIM:618278
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Atrial septal defect, Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow...	OMIM:245600
Ogden Syndrome	Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Ventricular tachycardia, Atri...	OMIM:300855
Mucopolysaccharidosis Type 3	Recurrent sinopulmonary infections, Hepatomegaly, Cardiomegaly, Respiratory tract infection, Sple...	ORPHA:581
Combined Oxidative Phosphorylation Deficiency 12	Ragged-red muscle fibers	OMIM:614924
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent...	OMIM:300967
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Cerebellar atrophy, Ataxia, Rhabdomyolysis, Ragged-red muscle fibers, Cerebral atrophy, EEG abnor...	OMIM:124000
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Myopathy	OMIM:612541
Kyphoscoliotic Ehlers-Danlos Syndrome	Skeletal muscle atrophy, Myopathy	ORPHA:536545
Autosomal Recessive Hypophosphatemic Rickets	Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia, Tooth abscess	ORPHA:289176
Bohring-Opitz Syndrome	Recurrent respiratory infections, Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contrac...	ORPHA:97297
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Multiple joint contractures, Cardiomegaly, Macroglossia, Arthrogryposis multiplex c...	OMIM:618143
1P36 Deletion Syndrome	Camptodactyly of finger, Optic atrophy, Myopathy, EEG abnormality, Cerebral cortical atrophy	ORPHA:1606
Fructose Intolerance, Hereditary	Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia	OMIM:229600
Fucosidosis	Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Splenomegaly, Flexion contracture, ...	OMIM:230000
Liver Disease, Severe Congenital	Cardiomegaly, Abnormal left ventricular function, Hypocalcemia, Elevated hepatic iron concentrati...	OMIM:619991
Beckwith-Wiedemann Syndrome	Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Macroglossia...	OMIM:130650
Microform Holoprosencephaly	EMG: myopathic abnormalities	ORPHA:280200
Dent Disease	Renal hypophosphatemia, Elevated circulating creatine kinase concentration	ORPHA:1652
X-Linked Hypophosphatemia	Tooth abscess, Hypophosphatemia	ORPHA:89936
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Flexion contracture, Myopathy	ORPHA:3042
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Cardiomegaly, Raynaud phenomenon, Hepatosplenomegaly, Incr...	ORPHA:51
Paternal Uniparental Disomy Of Chromosome 6	Macroglossia, Hepatomegaly, Ventricular septal defect, Cardiomegaly	ORPHA:96191
Singleton-Merten Syndrome 1	Recurrent respiratory infections, Mitral valve calcification, Cardiomegaly, Congestive heart fail...	OMIM:182250
Williams Syndrome	Ataxia, Atrophy/Degeneration involving the corticospinal tracts, Dysmetria, Macroglossia, Myopath...	ORPHA:904
Beckwith-Wiedemann Syndrome	Hepatomegaly, Diastasis recti, Elevated circulating alpha-fetoprotein concentration, Cardiomegaly...	ORPHA:116
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Transient ischemic attack, Cardiomegaly, Pericardial effusion, Retinal h...	ORPHA:51608
Yunis-Varon Syndrome	Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Hypertension, Cardiomyopathy,...	ORPHA:3472
Dermatomyositis	Inflammatory myopathy	ORPHA:221
Proteus Syndrome	Myofibrillar myopathy, Decreased muscle mass	ORPHA:744
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2	Distal lower limb muscle weakness	OMIM:158590

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Hspb8

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Hspb8.

No publications found that use IMPC mice or data for Hspb8.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Hspb8^{tm370747(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Hspb8^em1(IMPC)J	Exon Deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Hspb8 MGI:2135756

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Electroretinography 3

X-ray

X-ray

X-ray

X-ray

Eye Morphology

Auditory Brain Stem Response

Electrocardiogram (ECG)

Human diseases caused by Hspb8 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data