Gene Summary

Name:
hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
Synonyms:
Gpd1,  G6pd1,  Gpd-1

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating aspartate transaminase level H6pdtm1a(EUCOMM)Wtsi HOM   Early adult 6.48×10-06
abnormal locomotor activation H6pdtm1a(EUCOMM)Wtsi HOM   Early adult 3.78×10-05
decreased circulating alkaline phosphatase level H6pdtm1a(EUCOMM)Wtsi HOM   Early adult 2.80×10-07
increased startle reflex H6pdtm1a(EUCOMM)Wtsi HOM   Early adult 1.06×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by H6pd mutations

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

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

The table below shows human diseases associated to H6pd by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cortisone Reductase Deficiency 1
Obesity, Precocious puberty OMIM:604931

The table below shows human diseases predicted to be associated to H6pd by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hydroxyacyl Glutathione Hydrolase Deficiency
Glyoxalase deficiency OMIM:614033
Deoxyribose-5-Phosphate Aldolase Deficiency
Abnormal enzyme/coenzyme activity OMIM:125460
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Foot dorsiflexor weakness, Limb-girdle muscular dystrophy, Proximal muscle weakness in lower limb... OMIM:615424
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Proximal lower limb amyotrophy,... OMIM:158600
Miyoshi Myopathy
Pelvic girdle muscle weakness, Foot dorsiflexor weakness, Proximal muscle weakness in lower limbs... ORPHA:45448
Spinal Muscular Atrophy, Scapuloperoneal
Scapular muscle atrophy, Peroneal muscle atrophy, Spinal muscular atrophy OMIM:271220
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Diabetes mellitus, Skeletal muscle atrophy OMIM:158500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Shoulder girdle muscle atrophy, Increased variability in muscle fiber diameter, EMG: myopathic ab... OMIM:254110
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs, Increased endom... OMIM:619733
Tibial Muscular Dystrophy
Foot dorsiflexor weakness, Proximal muscle weakness in lower limbs, Increased variability in musc... ORPHA:609
Inclusion Body Myositis
Inflammatory myopathy, Skeletal muscle atrophy, Ragged-red muscle fibers, Quadriceps muscle weakn... ORPHA:611
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, Generalized amyotrophy, Increased variability in muscle fiber dia... OMIM:619178
Mitochondrial Myopathy With Diabetes
Ragged-red muscle fibers, EMG: myopathic abnormalities, Proximal amyotrophy, Type II diabetes mel... OMIM:500002
Central Core Disease Of Muscle
Nemaline bodies, Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Ankle f... OMIM:117000
Tubular Aggregate Myopathy
Type 2 muscle fiber atrophy, Increased variability in muscle fiber diameter, EMG: myopathic abnor... ORPHA:2593
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6
Proximal lower limb amyotrophy, Proximal upper limb amyotrophy, Generalized limb muscle atrophy, ... ORPHA:219
Neuronopathy, Distal Hereditary Motor, Type Va
Thenar muscle weakness, First dorsal interossei muscle atrophy, Thenar muscle atrophy, Upper limb... OMIM:600794
Nonaka Myopathy
Deposits immunoreactive to beta-amyloid protein, EMG: myopathic abnormalities, Distal amyotrophy,... OMIM:605820
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Flexion contracture, Muscular dystrophy, EMG: myopathic abnormalities, Autophagic vacuoles, Shoul... OMIM:608423
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy
Lower limb amyotrophy, Foot dorsiflexor weakness, Proximal muscle weakness in lower limbs, Upper ... ORPHA:482601
Myopathy, Distal, With Rimmed Vacuoles
Foot dorsiflexor weakness, Skeletal muscle atrophy, Increased variability in muscle fiber diamete... OMIM:617158
Myopathy, Scapulohumeroperoneal
Achilles tendon contracture, Hand muscle atrophy, Nemaline bodies, Foot dorsiflexor weakness, Ske... OMIM:616852
Myopathy, Distal, 5
Muscle fiber splitting, Myopathy, Distal amyotrophy, Facial palsy, Rimmed vacuoles OMIM:617030
Vacuolar Neuromyopathy
Foot dorsiflexor weakness, Muscle fiber splitting, Muscular dystrophy, Shoulder girdle muscle wea... OMIM:601846
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Flexion limitation of toes, Proxi... OMIM:609115
Charcot-Marie-Tooth Disease, Axonal, Type 2D
Thenar muscle weakness, First dorsal interossei muscle atrophy, Thenar muscle atrophy, Upper limb... OMIM:601472
Gne Myopathy
Lower limb amyotrophy, Hypothyroidism, Foot dorsiflexor weakness, Weakness of long finger extenso... ORPHA:602
Myopathy, Myosin Storage, Autosomal Dominant
Shoulder girdle muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, General... OMIM:608358
Muscular Dystrophy, Limb-Girdle, Type 1H
Shoulder girdle muscle atrophy, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, C... OMIM:613530
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Foot dorsiflexor weakness, Increased variability in muscle fiber diameter, Type 1 muscle fiber pr... OMIM:618655
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Proximal muscle weakness in lower limbs, Obesity, Increased circulating T4 ... ORPHA:171706
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Myositis, Skeletal muscle atrophy, Elevated circulating alkaline phosphatase concentration, Myopa... OMIM:615422
Glycogen Storage Disease Xiii
Increased muscle glycogen content OMIM:612932
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5
Foot dorsiflexor weakness, Spinal muscular atrophy, Skeletal muscle atrophy OMIM:614881
Autosomal Recessive Spastic Paraplegia Type 63
Decreased body weight, Skeletal muscle atrophy ORPHA:401805
Spinal Muscular Atrophy, Facioscapulohumeral Type
Spinal muscular atrophy, Skeletal muscle atrophy OMIM:182970
Myopathy, Congenital Proximal, With Minicore Lesions
Minicore myopathy, Cryptorchidism, Type 1 muscle fiber predominance, Z-band streaming, Centrally ... OMIM:618823
Lethal Congenital Contracture Syndrome 4
Distal arthrogryposis, Flexion contracture, Multiple joint contractures, Skeletal muscle atrophy OMIM:614915
Myopathy, Centronuclear, 1
Flexion contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Skeletal mus... OMIM:160150
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Charcot-Marie-Tooth Disease, Axonal, Type 2Q
Distal lower limb muscle weakness, Skeletal muscle atrophy OMIM:615025
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Flexion contracture, Small for gestational age, Cryptorchidism, Arthrogryposis multiplex congenit... OMIM:618484
Neuropathy, Painful
Lower limb muscle weakness, Skeletal muscle atrophy OMIM:256870
Polyglucosan Body Myopathy 2
Limb-girdle muscle weakness, Skeletal muscle atrophy OMIM:616199
Distal Myopathy, Welander Type
Foot dorsiflexor weakness, Weakness of long finger extensor muscles, Intrinsic hand muscle atroph... ORPHA:603
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Myopathy OMIM:618992
Acth-Independent Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Skeletal muscle atrophy, Primary hypercortisolism, Truncal obes... OMIM:219080
Spinal Muscular Atrophy, Distal, X-Linked 3
Spinal muscular atrophy, Distal amyotrophy OMIM:300489
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in upper limbs, Foot dorsiflexor weakness, Proximal muscle weakness in l... OMIM:601954
Neuronopathy, Distal Hereditary Motor, Type Iic
Lower limb muscle weakness, Distal lower limb muscle weakness, Skeletal muscle atrophy OMIM:613376
Muscular Atrophy, Malignant Neurogenic
Skeletal muscle atrophy OMIM:158650
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Upper limb muscle weakness, Distal amyotrophy OMIM:608323
Spastic Paraplegia 38, Autosomal Dominant
Thenar muscle weakness, First dorsal interossei muscle atrophy, Lower limb muscle weakness, Thena... OMIM:612335
Spastic Paraplegia 17, Autosomal Dominant
Thenar muscle weakness, First dorsal interossei muscle atrophy, Lower limb muscle weakness, Thena... OMIM:270685
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Spastic Paraplegia 77, Autosomal Recessive
Lower limb amyotrophy OMIM:617046
Lethal Congenital Contracture Syndrome 3
Multiple joint contractures, Arthrogryposis multiplex congenita, Skeletal muscle atrophy OMIM:611369
Spinal Muscular Atrophy With Microcephaly And Mental Subnormality
Proximal spinal muscular atrophy OMIM:271110
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Increased variability in muscle f... OMIM:618848
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Limb-girdle muscle weakness, Generalized amyotrophy, Muscular dystrophy, Increased variability in... ORPHA:86812
Myopathy, Myosin Storage, Autosomal Recessive
Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fib... OMIM:255160
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal amyotrophy, Skeletal muscle atrophy OMIM:614369
Myopathy, Myofibrillar, 5
Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy, Muscle fiber splitting OMIM:609524
Spastic Paraplegia 73, Autosomal Dominant
Skeletal muscle atrophy OMIM:616282
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy, ... OMIM:609200
Hereditary Myopathy With Early Respiratory Failure
Muscle fiber hypertrophy, Foot dorsiflexor weakness, Skeletal muscle atrophy, Muscle fiber splitt... ORPHA:178464
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Proximal muscle weakness in upper limbs, Increased variability in muscle fiber diameter, Hamstrin... ORPHA:206549
Spastic Paraplegia 42, Autosomal Dominant
Skeletal muscle atrophy OMIM:612539
Salih Myopathy
Flexion contracture, Myopathy, Facial palsy, Centrally nucleated skeletal muscle fibers, Calf mus... OMIM:611705
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Minicore myopathy, Multiple joint contractures, Cryptorchidism, Increased variability in muscle f... ORPHA:486815
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers OMIM:614807
Primary Pigmented Nodular Adrenocortical Disease
Hyperlipidemia, Adrenal hyperplasia, Pigmented micronodular adrenocortical disease, Increased uri... ORPHA:189439
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Scapular winging, Shoulder girdle muscle weakness, Angulated muscle fibers, Weakness of facial mu... OMIM:619477
Inclusion Body Myositis
Inflammatory myopathy, Rimmed vacuoles OMIM:147421
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Distal lower limb muscle weakness, Foot dorsiflexor weakness, Proximal lower limb amyotrophy, Mus... ORPHA:437572
Neuronopathy, Distal Hereditary Motor, Type I
Upper limb muscle weakness, Distal amyotrophy OMIM:182960
Spastic Paraplegia 43, Autosomal Recessive
Distal amyotrophy, Ankle flexion contracture, Knee flexion contracture OMIM:615043
Amyotrophic Lateral Sclerosis Type 4
Skeletal muscle atrophy ORPHA:357043
Charcot-Marie-Tooth Disease, Axonal, Type 2W
Distal amyotrophy OMIM:616625
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo... ORPHA:457050
Gemignani Syndrome
Abnormal testis morphology, Delayed puberty, Skeletal muscle atrophy ORPHA:2074
Distal Nebulin Myopathy
Weakness of the intrinsic hand muscles, Nemaline bodies, Foot dorsiflexor weakness, Weakness of l... ORPHA:399103
Myopathy, Distal, 4
Skeletal muscle atrophy, Abnormality of the calf musculature, Myopathy, Distal upper limb amyotro... OMIM:614065
Minicore Myopathy With External Ophthalmoplegia
Minicore myopathy, Nemaline bodies, Skeletal muscle atrophy, Type 1 and type 2 muscle fiber minic... OMIM:255320
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Failure to thrive, Skeletal muscle autophagosome accumulation, Premature ovarian insufficiency, R... OMIM:619518
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Decreased circulating ACTH le... OMIM:615954
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Weakness of the intrinsic hand muscles, Foot dorsiflexor weakness, Distal upper limb amyotrophy, ... OMIM:619519
Oculopharyngodistal Myopathy 2
Increased endomysial connective tissue, Increased variability in muscle fiber diameter, EMG: myop... OMIM:618940
Autosomal Recessive Spastic Paraplegia Type 62
Knee flexion contracture, Skeletal muscle atrophy ORPHA:401785
Myopathy, Congenital, With Fiber-Type Disproportion
Limb joint contracture, Failure to thrive, Type 1 fibers relatively smaller than type 2 fibers, F... OMIM:255310
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle atrophy, Lower limb muscle weakness, Hand muscle weakness, Distal amyotrophy, Facial ... OMIM:607641
Miyoshi Muscular Dystrophy 1
Lower limb muscle weakness, Distal amyotrophy, Muscular dystrophy, Deposits immunoreactive to bet... OMIM:254130
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Myofibrillar myopathy, Increased variability in muscle fiber diameter, Skeletal muscle fibrosis, ... ORPHA:34516
Marinesco-Sjogren Syndrome
Flexion contracture, Skeletal muscle atrophy, Hypergonadotropic hypogonadism, Failure to thrive, ... OMIM:248800
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Myopathy, Congenital contracture, Arthrogryposis multiplex congenita, Skeletal muscle atrophy OMIM:208100
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hyperlipidemia, Abnormal response to corticotropin releasing hormone stimulation test, Macronodul... ORPHA:189427
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Myopathy, Rimmed vacuoles, Abnormal muscle fiber morphology ORPHA:270
Distal Myopathy, Tateyama Type
Weakness of the intrinsic hand muscles, Hypercholesterolemia, Intrinsic hand muscle atrophy, Incr... ORPHA:488650
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Spinal Muscular Atrophy With Mental Retardation
Spinal muscular atrophy OMIM:271109
Scapuloperoneal Myopathy, X-Linked Dominant
Foot dorsiflexor weakness, Flexion contracture, Scapular winging, Skeletal muscle atrophy, Lower ... OMIM:300695
Short Stature Due To Ghsr Deficiency
Decreased body weight, Hypoglycemia, Abnormality of body weight, Decreased serum insulin-like gro... ORPHA:314811
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Weakness of facial musculature, Increased intramyocellular lipid droplets OMIM:619062
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Minicore myopathy, Congenital muscular dystrophy, Proxim... ORPHA:598
Distal Myopathy With Anterior Tibial Onset
Weakness of the intrinsic hand muscles, Intrinsic hand muscle atrophy, Limb-girdle muscle weaknes... ORPHA:178400
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Centrally nucleated skeletal muscle fibers OMIM:617066
Spinal Muscular Atrophy, Jokela Type
Spinal muscular atrophy, Calf muscle hypertrophy, Skeletal muscle atrophy OMIM:615048
Myopathy, Centronuclear, 2
Flexion contracture, Generalized amyotrophy, EMG: myopathic abnormalities, Facial palsy, Scapular... OMIM:255200
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Nonprogressive muscular atrophy, Cachexia, Distal amyotrophy ORPHA:1216
Legg-Calvé-Perthes Disease
Skeletal muscle atrophy ORPHA:2380
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers ORPHA:324581
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia,... ORPHA:293964
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Foot dorsiflexor weakness, Facial hypotonia, Hip flexor weakness, Increased endomysial connective... ORPHA:266
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Proximal amyotrophy, Myopathy, Muscle fiber splitting OMIM:618129
King-Denborough Syndrome
Minicore myopathy, Cryptorchidism, Type 1 muscle fiber predominance, Failure to thrive, Bilateral... OMIM:619542
Pigmented Nodular Adrenocortical Disease, Primary, 4
Primary hypercortisolism, Diabetes mellitus, Adrenal hyperplasia, Increased body weight, Increase... OMIM:615830
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Centrally nucleated skeletal muscle fibers, Type 1 fibers relati... ORPHA:596
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Intrinsic hand muscle atrophy, Ragged-red muscle fibers,... ORPHA:276435
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Myopathy, Elevate... OMIM:612937
Bethlem Myopathy 1
Skeletal muscle atrophy, Limb-girdle muscle weakness, Ankle flexion contracture, Myopathy, Tortic... OMIM:158810
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Hypoglycemia OMIM:201910
Spastic Paraplegia 62, Autosomal Recessive
Skeletal muscle atrophy OMIM:615681
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Flexion contracture, Skeletal muscle atrophy OMIM:611105
Amyotrophic Lateral Sclerosis 20
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles, Elevated circulating alkaline... OMIM:615426
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Limb-girdle muscular dystrophy, Reduced muscle fiber alpha dystroglycan, Ankle flexion contractur... ORPHA:280333
Facial Onset Sensory And Motor Neuronopathy
Skeletal muscle atrophy ORPHA:85162
Proximal Myopathy With Extrapyramidal Signs
Central core regions in muscle fibers, Increased variability in muscle fiber diameter, Centrally ... ORPHA:401768
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3
Interosseus muscle atrophy, Distal lower limb muscle weakness, Spinal muscular atrophy, Distal am... OMIM:607088
Pontocerebellar Hypoplasia, Type 1C
Failure to thrive, Flexion contracture, Spinal muscular atrophy, Skeletal muscle atrophy OMIM:616081
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Congenital muscular dystrophy, Skeletal muscle atrophy, Increased variability in muscle fiber dia... OMIM:613204
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Rimmed vacuoles, Calf muscle hypertrophy, Skeletal muscle atrophy OMIM:617760
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Spinal muscular atrophy OMIM:182980
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy, Hypoglycemia, Hypertriglyceridemia ORPHA:366
Mitochondrial Myopathy, Infantile, Transient
Muscle fiber hypertrophy, Ragged-red muscle fibers, Increased muscle lipid content, Macroglossia,... OMIM:500009
Spastic Paraplegia 63, Autosomal Recessive
Skeletal muscle atrophy OMIM:615686
Muscular Dystrophy, Congenital, Lmna-Related
Failure to thrive, Generalized amyotrophy, Flexion contracture, Congenital muscular dystrophy OMIM:613205
Neutral Lipid Storage Disease With Myopathy
Myopathy, Elevated hepatic transaminase, Hypertriglyceridemia, Diabetes mellitus, Increased muscl... OMIM:610717
Distal Hereditary Motor Neuropathy Type 5
Thenar muscle weakness, First dorsal interossei muscle atrophy, Thenar muscle atrophy, Upper limb... ORPHA:139536
Nemaline Myopathy 6
Nemaline bodies, Myopathy, Limb muscle weakness OMIM:609273
Dysequilibrium Syndrome
Skeletal muscle atrophy ORPHA:1766
Spinal Muscular Atrophy, Infantile, James Type
Lower limb muscle weakness, Increased variability in muscle fiber diameter, Type 1 muscle fiber p... OMIM:619042
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Increased endomysial connective tissue, Muscular dystrophy, Flexion contracture, Ankle flexion co... OMIM:617072
Tibial Muscular Dystrophy, Tardive
Rimmed vacuoles, Muscular dystrophy, EMG: myopathic abnormalities OMIM:600334
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Scapular winging, Flexion contracture OMIM:300696
Neuropathy, Hereditary Motor, With Myopathic Features
Proximal muscle weakness in upper limbs, Lower limb amyotrophy, Foot dorsiflexor weakness, Flexio... OMIM:619216
Dpm3-Cdg
Muscular dystrophy, Calf muscle hypertrophy, Elevated hepatic transaminase, Rimmed vacuoles, Pelv... ORPHA:263494
Neuronopathy, Distal Hereditary Motor, Type Iid
Lower limb amyotrophy, Weakness of the intrinsic hand muscles, Lower limb muscle weakness, Tricep... OMIM:615575
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Limb-girdle muscle weakness, Shoulder girdle muscle atrophy, Muscular dystrophy, Proximal amyotro... OMIM:604286
Spastic Paraplegia 31, Autosomal Dominant
Lower limb muscle weakness, Skeletal muscle atrophy OMIM:610250
Moderate Multiminicore Disease With Hand Involvement
Intrinsic hand muscle atrophy, Facial palsy, Type 1 muscle fiber predominance ORPHA:178145
Nemaline Myopathy 4
Nemaline bodies, Flexion contracture, Skeletal muscle atrophy, Facial diplegia, Limb muscle weakn... OMIM:609285
Zebra Body Myopathy
Nemaline bodies, Limb-girdle muscular dystrophy, Muscle fiber splitting, Muscle fiber necrosis, E... ORPHA:97240
Spinal Muscular Atrophy, Segmental
Hand muscle atrophy, Segmental spinal muscular atrophy OMIM:183020
Nemaline Myopathy 2
Nemaline bodies, Flexion contracture, Sternocleidomastoid amyotrophy, Foot dorsiflexor weakness, ... OMIM:256030
Myopathy, Distal, 1
Amyotrophy of ankle musculature, Weakness of long finger extensor muscles, Ragged-red muscle fibe... OMIM:160500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Limb-girdle muscle weakness, Muscular dystrophy, Limb muscle weakness, C... OMIM:616812
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities OMIM:609283
Finnish Upper Limb-Onset Distal Myopathy
Weakness of the intrinsic hand muscles, Amyotrophy of ankle musculature, Joint contracture of the... ORPHA:399086
Spastic Paraplegia 18, Autosomal Recessive
Lower limb muscle weakness, Skeletal muscle atrophy OMIM:611225
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:300816
Lethal Congenital Contracture Syndrome 5
Flexion contracture, Centrally nucleated skeletal muscle fibers, Small for gestational age, Conge... OMIM:615368
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Flexion contracture, Muscle fiber splitting, Muscular dystrophy, Facial palsy, Rimmed vacuoles, S... OMIM:603511
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Lower limb muscle weakness, Distal lower limb amyotrophy, Foot dorsiflexor weakness, Skeletal mus... OMIM:613287
Spastic Paraplegia 64, Autosomal Recessive
Delayed puberty, Skeletal muscle atrophy OMIM:615683
Myopathy, Myofibrillar, 8
Achilles tendon contracture, Nemaline bodies, Generalized amyotrophy, Joint contracture of the 5t... OMIM:617258
Alpha-B Crystallin-Related Late-Onset Myopathy
Foot dorsiflexor weakness, Limb-girdle muscle weakness, Increased variability in muscle fiber dia... ORPHA:399058
Glycogen Storage Disease Vi
Hypoglycemia, Hyperlipidemia, Failure to thrive in infancy, Hypercholesterolemia, Elevated hepati... OMIM:232700
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscular dystrophy, Increased variability in muscle fiber diameter, EMG: myopathic abnormalities,... OMIM:253601
Autosomal Dominant Spastic Paraplegia Type 4
Leg muscle stiffness, Lower limb muscle weakness, Distal amyotrophy ORPHA:100985
Myopathy, Distal, 3
Muscular dystrophy, EMG: myopathic abnormalities, Distal amyotrophy, Rimmed vacuoles, Joint contr... OMIM:610099
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Pelvic girdle amyotrophy, Shoulder girdle muscle atrophy, Elevated alkaline phosphatase of bone o... OMIM:167320
Neuronopathy, Distal Hereditary Motor, Type Viia
Distal amyotrophy OMIM:158580
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Lower limb amyotrophy, Muscle fiber splitting, Lower limb muscle weakness, Ragged-red muscle fibe... OMIM:616924
Merrf
Ragged-red muscle fibers, Myopathy ORPHA:551
Autosomal Recessive Centronuclear Myopathy
Scapular winging, Generalized amyotrophy, Facial diplegia, Type 1 muscle fiber predominance, Hip ... ORPHA:169186
Autosomal Recessive Spastic Paraplegia Type 43
Distal amyotrophy, Ankle flexion contracture, Flexion contracture of finger, Knee flexion contrac... ORPHA:320370
Neuronopathy, Distal Hereditary Motor, Type Viii
Proximal lower limb amyotrophy, Knee flexion contracture, Hip contracture, Arthrogryposis multipl... OMIM:600175
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Foot dorsiflexor weakness, Proximal amyotrophy, Distal amyotrophy OMIM:616040
Myopathy, Distal, With Anterior Tibial Onset
Myopathy, Distal amyotrophy OMIM:606768
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Short stepped shuffling gait, Blepharospasm, Loss of ability to walk, Akinesia,... ORPHA:240094
Myopathy, Myofibrillar, 2
Foot dorsiflexor weakness, Muscle fiber splitting, Limb-girdle muscle weakness, Muscular dystroph... OMIM:608810
Glycogen Storage Disease Ixb
Increased muscle glycogen content OMIM:261750
Muscular Dystrophy, Congenital, 1B
Achilles tendon contracture, Congenital muscular dystrophy, Generalized muscle hypertrophy, Pecto... OMIM:604801
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hypoglycemia, Decreased circulating cortisol level, Jaundice, Abnormal circulating androgen level... ORPHA:90790
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Skeletal muscle atrophy, Pr... OMIM:619566
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Upper limb muscle weakness, Distal amyotrophy OMIM:607677
Oculopharyngodistal Myopathy 3
Increased endomysial connective tissue, Increased variability in muscle fiber diameter, Generaliz... OMIM:619473
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Large for gestational age, Cryptorchidism, Proximal musc... ORPHA:169189
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Upper limb muscle weakness, Foot dorsiflexor weakness, Distal amyotrophy OMIM:302801
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Internally nucl... OMIM:618654
Parkinson Disease 17
Akinesia, Resting tremor, Tremor OMIM:614203
Myopathy And Diabetes Mellitus
Achilles tendon contracture, Skeletal myopathy, Sternocleidomastoid amyotrophy, Weakness of orbic... ORPHA:2596
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Upper limb muscle weakness, Foot dorsiflexor weakness, Distal amyotrophy OMIM:607678
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Flexion contracture OMIM:300717
Autosomal Recessive Spastic Paraplegia Type 76
Lower limb muscle weakness, Skeletal muscle atrophy ORPHA:488594
Autoimmune Polyendocrinopathy Type 1
Primary adrenal insufficiency, Abnormal calcium-phosphate regulating hormone level, Decreased cir... ORPHA:3453
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Foot dorsiflexor weakness, Distal amyotrophy OMIM:607731
Nemaline Myopathy 1
Nemaline bodies, Flexion contracture, Shoulder girdle muscle atrophy, EMG: myopathic abnormalitie... OMIM:609284
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Lower limb amyotrophy, Distal lower limb muscle weakness, Amyotrophy of ankle musculature, Foot d... ORPHA:90103
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypo... OMIM:601820
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Limb-girdle muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Macroglossia, Scapular w... OMIM:616052
Spinocerebellar Ataxia Type 27
Hand tremor, Akinesia, Gait ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Difficulty wal... ORPHA:98764
Myosclerosis, Autosomal Recessive
Achilles tendon contracture, Facial palsy, Restricted neck movement due to contractures, Skeletal... OMIM:255600
Extensor Tendons Of Finger Anomalies
Camptodactyly of finger, Skeletal muscle atrophy ORPHA:3294
Spinal Muscular Atrophy, Ryukyuan Type
Spinal muscular atrophy, Proximal amyotrophy OMIM:271200
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Left ventricular hype... ORPHA:251274
Neuronopathy, Distal Hereditary Motor, Type Vb
Distal amyotrophy OMIM:614751
Hypokalemic Periodic Paralysis
Adrenocortical adenoma, Abnormal muscle fiber morphology, Postprandial hyperglycemia, Increased i... ORPHA:681
Distal Myotilinopathy
Abnormal muscle fiber myotilin, EMG: myopathic abnormalities, Multiple joint contractures, Distal... ORPHA:98911
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Primary adrenal insufficiency, Elevated circulating luteinizing hormone level, Ovarian cyst, Male... ORPHA:90793
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Adrenocorticotropic hormone excess, Neonatal... ORPHA:90791
Lipoid Congenital Adrenal Hyperplasia
Adrenogenital syndrome, Congenital adrenal hyperplasia OMIM:201710
Nemaline Myopathy 5
Nemaline bodies, Proximal amyotrophy, Type 1 muscle fiber predominance, Shoulder flexion contract... OMIM:605355
Muscular Dystrophy, Congenital, Merosin-Positive
Flexion contracture, Congenital muscular dystrophy, Increased variability in muscle fiber diamete... OMIM:609456
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Distal amyotrophy OMIM:608673
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Myopathy, Skeletal muscle atrophy ORPHA:2597
Mitochondrial Complex I Deficiency, Nuclear Type 25
Failure to thrive, Nemaline bodies, Myopathy OMIM:618246
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Myopathy OMIM:545000
Spinocerebellar Ataxia 43
Distal amyotrophy OMIM:617018
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Failure to thrive, Skeletal muscle atrophy OMIM:618276
Myopathy, Spheroid Body
Myopathy, Proximal amyotrophy, Skeletal muscle atrophy OMIM:182920
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Foot dorsiflexor weakness, Elevated hepatic transaminase, Distal amyotrophy OMIM:618400
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Decreased body weight, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial pals... OMIM:300580
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Distal amyotrophy OMIM:605589
Autosomal Spastic Paraplegia Type 30
Leg muscle stiffness, Distal amyotrophy ORPHA:101010
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Adrenogenital syndrome, Decreased circulating renin level, Hyperaldosteronism OMIM:103900
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Proximal muscle weakness in upper limbs, Skeletal muscle atrophy, Hypoglycosylation of alpha-dyst... ORPHA:352479
Myasthenic Syndrome, Congenital, 14
Limb-girdle muscle weakness, Ragged-red muscle fibers, Scapular winging, Flexion contracture OMIM:616228
Congenital Myopathy With Myasthenic-Like Onset
Minicore myopathy, Multiple joint contractures, EMG: myopathic abnormalities, Type 1 muscle fiber... ORPHA:424107
Mitochondrial Complex I Deficiency, Nuclear Type 23
Skeletal muscle atrophy OMIM:618244
Spinal Muscular Atrophy, Type Ii
Spinal muscular atrophy, Skeletal muscle atrophy OMIM:253550
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Anterior hypopituitarism, Skeletal muscle atrophy ORPHA:480
Adult-Onset Nemaline Myopathy
Nemaline bodies, Flexion contracture, Lower limb muscle weakness, Increased variability in muscle... ORPHA:171442
Oliver-Mcfarlane Syndrome
Hypogonadotropic hypogonadism, Small for gestational age, Cryptorchidism, Decreased response to g... OMIM:275400
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Adrenal insufficiency, Flexion contracture, Skeletal muscle atrophy, Central adrenal insufficienc... OMIM:612079
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Achilles tendon contracture, Pelvic girdle muscle weakness, Foot dorsiflexor weakness, Myofibrill... OMIM:603689
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:617070
Neurologic Disease, Infantile Multisystem, With Osseous Fragility
Skeletal muscle atrophy OMIM:256720
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Proximal amyotrophy OMIM:271150
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Intrinsic hand muscle atrophy, Triceps weakness, Foot dorsiflexor weakness, Centrally nucleated s... OMIM:619574
Lipodystrophy, Familial Partial, Type 6
Hyperlipidemia, Insulin resistance, Skeletal muscle atrophy, Lower limb muscle weakness, Muscular... OMIM:615980
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Hypothyroidism, Abnormal mitochondria in muscle tissue ORPHA:663
Childhood-Onset Nemaline Myopathy
Nemaline bodies, Flexion contracture, Slender build, Increased variability in muscle fiber diamet... ORPHA:171439
Familial Hyperaldosteronism Type Ii
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Secretory adrenocorti... ORPHA:404
Microcephaly, Seizures, And Developmental Delay
Skeletal muscle atrophy OMIM:613402
Nathalie Syndrome
Skeletal muscle atrophy OMIM:255990
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Myopathy ORPHA:1878
Spinocerebellar Ataxia Type 43
Distal lower limb muscle weakness, Foot dorsiflexor weakness, Distal amyotrophy ORPHA:497764
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Secretory adrenocortical adenoma, Dexamethasone-suppressible primary hyperal... ORPHA:403
Myopathy, Tubular Aggregate, 1
Weakness of the intrinsic hand muscles, Type 2 muscle fiber atrophy, Flexion contracture, Increas... OMIM:160565
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Muscular dystrophy, EMG: myopathic abnormalities, Skeletal muscle atrophy OMIM:608807
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Distal amyotrophy ORPHA:639
Congenital Muscular Dystrophy, Ullrich Type
Flexion contracture, Increased endomysial connective tissue, Increased variability in muscle fibe... ORPHA:75840
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Foot dorsiflexor weakness, Spinal muscular atrophy, Distal amyotrophy ORPHA:496756
Spinal Muscular Atrophy, Type Iii
Spinal muscular atrophy, Skeletal muscle atrophy OMIM:253400
Spastic Paraplegia With Neuropathy And Poikiloderma
Distal amyotrophy OMIM:182815
Infantile-Onset X-Linked Spinal Muscular Atrophy
Inflammatory myopathy, Skeletal muscle atrophy, Cryptorchidism, Spinal muscular atrophy, Ankle fl... ORPHA:1145
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Limb-girdle muscle weakness, Generalized amyotrophy, Facial palsy, Slender build OMIM:615156
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Muscle fiber necrosis, Increased variability in muscle fiber diameter, EMG: myopathic abnormaliti... OMIM:614399
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Pelvic girdle muscle weakness, Abnormality of the Achilles tendon, Reduced muscle fiber alpha dys... ORPHA:34515
Glycogen Storage Disease Ixa1
Hypoglycemia, Elevated hepatic transaminase, Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Failure to thrive in infancy, Increased intramyoc... OMIM:619065
Neuropathy, Congenital Hypomyelinating, 2
Facial diplegia, Skeletal muscle atrophy OMIM:618184
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Joint contracture of the hand, Scapuloperoneal amyotrophy, Spinal muscular atrophy, Distal amyotr... OMIM:611067
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:314802
X-Linked Charcot-Marie-Tooth Disease Type 3
Foot dorsiflexor weakness, Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs... ORPHA:101077
Amish Nemaline Myopathy
EMG: myopathic abnormalities, Proximal amyotrophy, Type 1 muscle fiber predominance, Shoulder fle... ORPHA:98902
Bethlem Myopathy 2
Scapular winging, Increased variability in muscle fiber diameter, Flexion contracture, Myopathy OMIM:616471
Congenital Muscular Dystrophy Without Intellectual Disability
Achilles tendon contracture, Limb-girdle muscle atrophy, Congenital muscular dystrophy, Reduced m... ORPHA:370980
Muscular Hypoplasia, Congenital Universal, Of Krabbe
Abnormal muscle fiber morphology, Hypoplasia of the musculature OMIM:159100
Pleoconial Myopathy With Salt Craving
Myopathy, Proximal amyotrophy OMIM:262900
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Generalized amyotrophy ORPHA:2589
Myotubular Myopathy With Abnormal Genital Development
Unilateral cryptorchidism, Myopathy, Centrally nucleated skeletal muscle fibers, Bilateral crypto... OMIM:300219
Spinal Muscular Atrophy, Type I
Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Proximal amyotrophy OMIM:253300
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Limb-girdle muscular dystrophy, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrop... ORPHA:206559
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2
Foot dorsiflexor weakness, Spinal muscular atrophy, Distal amyotrophy OMIM:605726
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Facial palsy, Scapular winging, Skeletal muscle atrophy OMIM:617069
Myopathy, Proximal, With Ophthalmoplegia
Muscle fiber inclusion bodies, Myopathy, Scapular winging, Congenital contracture OMIM:605637
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Upper limb muscle weakness, Distal amyotrophy OMIM:607791
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Muscular dystrophy, Scapular winging, Proximal amyotrophy, Calf muscle hypertrophy OMIM:601287
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... ORPHA:411593
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle fiber splitting OMIM:609452
Congenital Multicore Myopathy With External Ophthalmoplegia
Muscle fiber hypertrophy, Nemaline bodies, Flexion contracture, Sternocleidomastoid amyotrophy, A... ORPHA:98905
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy ORPHA:238329
Amyotrophic Lateral Sclerosis 11
Skeletal muscle atrophy OMIM:612577
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Muscular dystrophy, Ankle f... OMIM:613818
Myasthenic Syndrome, Congenital, 25, Presynaptic
Generalized amyotrophy, Myopathy, Flexion contracture OMIM:618323
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating renin level, Increased circulating 18-hydroxycortisone level, Decreased cir... OMIM:610600
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Type 2 muscle fiber atrophy, Generalized amyotrophy, Ankle flexion contracture, Type 1 muscle fib... OMIM:617519
Spinocerebellar Ataxia, Autosomal Recessive 30
Dysmetria, Increased serum pyruvate, Ataxia, Unsteady gait, Elevated circulating creatine kinase ... OMIM:619405
Myopathy, Myofibrillar, 7
Achilles tendon contracture, Increased circulating lactate dehydrogenase concentration, Nemaline ... OMIM:617114
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Skeletal muscle atrophy ORPHA:481
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Contractures of the joints of the lower limbs, Skeletal muscle atrophy OMIM:613710
Autosomal Dominant Spastic Paraplegia Type 17
Hand muscle atrophy, Foot dorsiflexor weakness, Abnormality of the foot musculature, Hand muscle ... ORPHA:100998
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Facial palsy, Myopathy, Flexion contracture, Skeletal muscle atrophy OMIM:616313
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy OMIM:607855
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Achilles tendon contracture, Axial muscle atrophy, Decreased cervical spine flexion due to contra... ORPHA:254361
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Muscular dystrophy, Flexion contracture, Skeletal muscle atrophy OMIM:613723
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Hypothyroidism, Hypoglycemia, Impaired growth-hormone response to insulin ... OMIM:262700
Facioscapulohumeral Muscular Dystrophy 1
Skeletal muscle atrophy, Shoulder girdle muscle atrophy, Scapulohumeral muscular dystrophy, Facia... OMIM:158900
Mitochondrial Complex I Deficiency, Nuclear Type 31
Failure to thrive, Skeletal muscle atrophy OMIM:618251
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Nemaline bodies, Flexion contracture, Foot dorsiflexor weakness, Hypotrophy of the small hand mus... OMIM:607684
Fetal Akinesia Deformation Sequence 4
Flexion contracture, Skeletal muscle atrophy, Cryptorchidism, Arthrogryposis multiplex congenita,... OMIM:618393
Isolated Growth Hormone Deficiency, Type Ia
Decreased response to growth hormone stimulation test, Hypoglycemia, Impaired growth-hormone resp... OMIM:262400
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Limb-girdle muscular dystrophy, Muscular dystrophy, Myopathy, Elevated hepatic transaminase, Musc... ORPHA:369840
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Weight loss, Skeletal muscle atrophy, Muscle fiber necrosis, Ragged-red muscle fibers, Generalize... OMIM:607459
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Skeletal muscle atrophy, Muscular dystrophy, Macroglossia, Calf muscle hypertrophy, Triangular to... OMIM:616827
Cushing Disease
Pituitary corticotropic cell adenoma, Increased urinary cortisol level, Proximal amyotrophy, Trun... ORPHA:96253
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Lower limb amyotrophy, Upper limb amyotrophy, Proximal muscle weakness in upper limbs, Knee flexi... ORPHA:496689
Spinocerebellar Ataxia Type 21
Gait ataxia, Progressive cerebellar ataxia, Akinesia, Tremor ORPHA:98773
Glycogen Storage Disease Iii
Hypoglycemia, Hyperlipidemia, Myopathy, Elevated hepatic transaminase, Distal amyotrophy OMIM:232400
Glycogen Storage Disease 0, Muscle
Decreased muscle glycogen content, Left ventricular hypertrophy OMIM:611556
Rigid Spine Syndrome
Skeletal muscle atrophy, Myopathy, Hip contracture, Hamstring contractures, Elbow flexion contrac... ORPHA:97244
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Achilles tendon contracture, Increased endomysial connective tissue, Increased variability in mus... ORPHA:353
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Dystonia, Resting tremor, Shuffling gait, Inability to walk, Akines... ORPHA:391411
Generalized Glucocorticoid Resistance Syndrome
Hypoglycemia, Increased urinary cortisol level, Decreased circulating aldosterone level, Abnormal... ORPHA:786
Intermediate Nemaline Myopathy
Nemaline bodies, Flexion contracture, Skeletal muscle atrophy, EMG: myopathic abnormalities, Type... ORPHA:171433
Hereditary Motor And Sensory Neuropathy V
Distal amyotrophy, Foot dorsiflexor weakness, Limb muscle weakness OMIM:600361
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Ragged-red muscle fibers, Macroglossia, Myopathy, Increased muscle glycogen content, Increased mu... ORPHA:254864
Autosomal Recessive Spastic Paraplegia Type 74
Distal lower limb muscle weakness, Distal amyotrophy ORPHA:468661
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Distal amyotrophy, Foot dorsiflexor weakness, Limb muscle weakness OMIM:118210
Late-Onset Familial Hypoaldosteronism
Increased circulating renin level, Abnormal circulating corticosterone level, Decreased circulati... ORPHA:556037
Ataxia-Telangiectasia
Abnormal testis morphology, Skeletal muscle atrophy, Polycystic ovaries, Failure to thrive, Eleva... ORPHA:100
Glycerol Kinase Deficiency
Adrenal insufficiency, Hypoglycemia, Small for gestational age, Cryptorchidism, Muscular dystroph... OMIM:307030
Juvenile Primary Lateral Sclerosis
Skeletal muscle atrophy ORPHA:247604
Charcot-Marie-Tooth Disease Type 2B1
Hand muscle atrophy, Proximal lower limb amyotrophy, Shoulder girdle muscle atrophy, Proximal mus... ORPHA:98856
Myasthenic Syndrome, Congenital, 10
Facial palsy, Proximal amyotrophy, Distal amyotrophy OMIM:254300
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Foot dorsiflexor weakness, Spinal muscular atrophy, Distal amyotrophy OMIM:617207
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Decreased cervical spine fl... ORPHA:98855
Creatine Phosphokinase, Elevated Serum
Inflammatory myopathy, Muscular dystrophy, EMG: myopathic abnormalities, Myopathy, Abnormal muscl... OMIM:123320
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Upper limb muscle weakness, Distal amyotrophy OMIM:605253
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Flexion contracture, Skeletal muscle atrophy, Muscle fiber necrosis, Muscular dystrophy, Calf mus... OMIM:253700
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in upper limbs, Skeletal muscle atrophy, Lower limb muscle weakness, Pro... OMIM:613954
Central Core Disease
Nemaline bodies, Multiple joint contractures, Type 1 muscle fiber predominance, Myopathy, Central... ORPHA:597
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Skeletal muscle atrophy OMIM:205250
Triose Phosphate-Isomerase Deficiency
Skeletal muscle atrophy ORPHA:868
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia OMIM:617950
Lethal Congenital Contracture Syndrome 7
Knee flexion contracture, Facial diplegia, Arthrogryposis multiplex congenita, Skeletal muscle at... OMIM:616286
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Achilles tendon contracture, Knee flexion contracture, Hip contracture, Scapular winging, Spinal ... OMIM:615290
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Muscular dystrophy, Proximal amyotrophy OMIM:612998
Autosomal Recessive Spastic Paraplegia Type 67
Generalized amyotrophy ORPHA:401820
Growth Hormone Insensitivity Syndrome
Hypoglycemia, Insulin resistance, Diabetes insipidus, Hypercholesterolemia, Truncal obesity, Fail... ORPHA:181393
Early-Onset Familial Hypoaldosteronism
Increased circulating renin level, Abnormal circulating corticosterone level, Decreased circulati... ORPHA:556030
Ullrich Congenital Muscular Dystrophy 1
Flexion contracture, Congenital muscular dystrophy, Slender build, Muscle fiber necrosis, General... OMIM:254090
X-Linked Intellectual Disability, Miles-Carpenter Type
Hypogonadism, Skeletal muscle atrophy ORPHA:85283
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Type 2 muscle fiber atrophy, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Facial ... OMIM:608931
Nemaline Myopathy 10
Facial palsy, Flexion contracture, Arthrogryposis multiplex congenita, Skeletal muscle atrophy OMIM:616165
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Ragged-red muscle fibers, Generalized amyotrophy, EMG: myopathic abnormalities, Limb muscle weakn... OMIM:609560
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs, Increased varia... OMIM:618138
Epilepsy, Progressive Myoclonic, 9
Generalized amyotrophy OMIM:616540
Spinocerebellar Ataxia 18
Limb muscle weakness, Skeletal muscle atrophy OMIM:607458
Classic Multiminicore Myopathy
Right ventricular hypertrophy, Congenital muscular dystrophy, Multiple joint contractures, Genera... ORPHA:324604
Developmental And Epileptic Encephalopathy 86
Generalized amyotrophy, Small for gestational age OMIM:618910
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Decreased phosphoribosylpyrophosphate synthetase level, Distal amyotrophy OMIM:311070
Camurati-Engelmann Disease, Type 2
Skeletal muscle atrophy, Knee flexion contracture, Hip contracture, Delayed puberty, Elevated cir... OMIM:606631
Carnitine Palmitoyl Transferase 1A Deficiency
Transient hyperlipidemia, Hepatic failure, Hypoglycemia, Skeletal muscle atrophy, Elevated hepati... ORPHA:156
Congenital Muscular Dystrophy Due To Lmna Mutation
Myopathy, Flexion contracture, Cachexia, Skeletal muscle atrophy ORPHA:157973
Congenital Myasthenic Syndromes With Glycosylation Defect
Flexion contracture, Limb-girdle muscle weakness, Ragged-red muscle fibers, Generalized weakness ... ORPHA:353327
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers OMIM:616794
Saccharopinuria
Hyperlysinemia, Abnormality of circulating enzyme level, Elevated plasma citrulline, Hypercystine... ORPHA:3124
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal circulating pregnenolone... ORPHA:95699
Mitochondrial Dna Depletion Syndrome 18
Hand muscle atrophy, Foot dorsiflexor weakness, Failure to thrive, Weakness of facial musculature... OMIM:618811
Aceruloplasminemia
Increased circulating ferritin concentration, Dystonia, Decreased serum iron, Blepharospasm, Acer... ORPHA:48818
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Myositis, Flexion contracture, Lower limb muscle weakness, Muscular dystrophy, Proximal amyotroph... OMIM:253600
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Increased muscle glycogen content, Skeletal muscle atrophy ORPHA:371
Carnitine Deficiency, Systemic Primary
Hypoglycemia, Impaired gluconeogenesis, Reduced muscle carnitine level, Recurrent hypoglycemia, F... OMIM:212140
Distal Anoctaminopathy
Proximal muscle weakness in upper limbs, Rhabdomyolysis, Calf muscle pseudohypertrophy, Distal am... ORPHA:399096
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Distal amyotrophy OMIM:601382
Rigid Spine Muscular Dystrophy 1
Minicore myopathy, Flexion contracture, Type 1 and type 2 muscle fiber minicore regions, Generali... OMIM:602771
Glycogen Storage Disease Due To Aldolase A Deficiency
Viral infection-induced rhabdomyolysis, Skeletal myopathy, EMG: myopathic abnormalities, Reduced ... ORPHA:57
Congenital Disorder Of Glycosylation, Type Iio
Hepatic failure, Skeletal muscle atrophy, Hypercholesterolemia, Elevated alkaline phosphatase of ... OMIM:616828
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Ragged-red muscle fibers, Left ventricular hypertrophy, Diabetes mellitus, Myopathy OMIM:540000
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Distal amyotrophy OMIM:615376
Combined Oxidative Phosphorylation Deficiency 34
Primary adrenal insufficiency, Hepatic failure, Hypoglycemia, Failure to thrive, Hypogonadism OMIM:617872
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hyperaldosteronism, Abnormal circulating renin, Adrenal hyperplasia ORPHA:369929
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Distal amyotrophy OMIM:619099
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level OMIM:613677
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Decreased cervical spine fl... ORPHA:98863
Hypermethioninemia Due To Adenosine Kinase Deficiency
Failure to thrive, Decreased liver function, Elevated hepatic transaminase, Skeletal muscle atrophy OMIM:614300
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Decreased cervical spine fl... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Decreased cervical spine fl... ORPHA:98853
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Cushing Syndrome Due To Ectopic Acth Secretion
Pulmonary carcinoid tumor, Pancreatic endocrine tumor, Increased circulating androgen concentrati... ORPHA:99889
Myasthenic Syndrome, Congenital, 12
Facial palsy, Proximal amyotrophy OMIM:610542
Siddiqi Syndrome
Lower limb amyotrophy, Flexion contracture OMIM:618635
Giant Axonal Neuropathy 2, Autosomal Dominant
Distal amyotrophy OMIM:610100
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Hand muscle atrophy, Skeletal muscle atrophy ORPHA:99944
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Foot dorsiflexor weakness, Distal amyotrophy OMIM:606483
Scapuloperoneal Spinal Muscular Atrophy
Muscle fiber splitting, Scapuloperoneal amyotrophy, Peroneal muscle atrophy, Peroneal muscle weak... OMIM:181405
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Increased variability in muscle fiber diameter, Flexion contracture OMIM:300718
Nemaline Myopathy 3
Nemaline bodies, Slender build, EMG: myopathic abnormalities, Limb muscle weakness, Type 1 muscle... OMIM:161800
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Distal amyotrophy OMIM:601098
Roussy-Lévy Syndrome
Lower limb muscle weakness, Distal amyotrophy, Intrinsic hand muscle atrophy, Skeletal muscle atr... ORPHA:3115
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Neonatal hypoglycemia, Decreased body weight, Hypoglycemia, Small for gestational age, Diastasis ... ORPHA:231140
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Distal amyotrophy OMIM:205200
Corticobasal Syndrome
Dystonia, Akinesia, Limb dystonia, Gait disturbance, Tremor ORPHA:454887
Myasthenic Syndrome, Congenital, 5
Type 2 muscle fiber atrophy, Decreased muscle mass, Myopathy, Limb muscle weakness OMIM:603034
Laing Early-Onset Distal Myopathy
Minicore myopathy, Foot dorsiflexor weakness, Proximal muscle weakness in lower limbs, EMG: myopa... ORPHA:59135
Charcot-Marie-Tooth Disease Type 1A
Calf muscle hypertrophy, Skeletal muscle atrophy ORPHA:101081
Myopathy, Myofibrillar, 6
Generalized amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Knee flexion contractur... OMIM:612954
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Proximal amyotrophy OMIM:612999
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Upper limb muscle weakness, Foot dorsiflexor weakness, Distal amyotrophy OMIM:605588
Spinal Muscular Atrophy, X-Linked 2
Flexion contracture, Multiple joint contractures, Cryptorchidism, Myopathy, Arthrogryposis multip... OMIM:301830
Spinocerebellar Ataxia 21
Dystonia, Intention tremor, Ataxia, Akinesia, Progressive cerebellar ataxia, Gait ataxia, Limb at... OMIM:607454
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Achilles tendon contracture, Decreased cervical spine flexion due to contractures of posterior ce... OMIM:310300
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Flexion contracture, Cryptorchidism, Increased endomysial connective tissue, A... ORPHA:178148
Bethlem Myopathy
Achilles tendon contracture, Foot dorsiflexor weakness, Flexion contracture, Multiple joint contr... ORPHA:610
Charcot-Marie-Tooth Disease And Deafness
Distal amyotrophy, Foot dorsiflexor weakness, Limb muscle weakness OMIM:118300
Spastic Paraplegia 2, X-Linked
Lower limb muscle weakness, Flexion contracture, Skeletal muscle atrophy OMIM:312920
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers OMIM:500003
Flynn-Aird Syndrome
Primary adrenal insufficiency, Skeletal muscle atrophy, Abnormality of the thyroid gland, Type II... ORPHA:2047
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Flexion contracture, Arthrogryposis multiplex congenita, Skeletal muscle atrophy OMIM:618291
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Achilles tendon contracture, Skeletal muscle atrophy, Ragged-red muscle fibers, Obesity, EMG: myo... OMIM:615418
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Distal amyotrophy OMIM:607250
Amyotrophic Lateral Sclerosis 9
Distal amyotrophy OMIM:611895
Cap Myopathy
Lower limb amyotrophy, Lower limb muscle weakness, Generalized amyotrophy, Increased variability ... ORPHA:171881
Thyrocerebroretinal Syndrome
Goiter, Skeletal muscle atrophy OMIM:274240
Fried Syndrome
Skeletal muscle atrophy ORPHA:85335
Gm1-Gangliosidosis, Type Iii
Decreased beta-galactosidase activity, Skeletal muscle atrophy OMIM:230650
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... ORPHA:231580
Melorheostosis
Failure to thrive, Skeletal muscle atrophy ORPHA:2485
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Skeletal muscle atrophy OMIM:183050
Mitochondrial Complex I Deficiency, Nuclear Type 17
Skeletal muscle atrophy OMIM:618239
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated circulating a... OMIM:619048
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism, Increased variability in muscle fiber diameter, Myopathy OMIM:616816
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers OMIM:619024
Digital Extensor Muscle Aplasia-Polyneuropathy
Aplasia/Hypoplasia involving the skeletal musculature, Camptodactyly of finger, Muscular dystroph... ORPHA:2926
Postsynaptic Congenital Myasthenic Syndromes
Weakness of the intrinsic hand muscles, Abnormality of the musculature of the upper limbs, Abnorm... ORPHA:98913
Cog8-Cdg
Failure to thrive, Hypoglycemia, Elevated hepatic transaminase, Skeletal muscle atrophy ORPHA:95428
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Proximal muscle weakness in lower limbs, Myositis, Calf muscle hypertrophy, Skeletal muscle atrophy ORPHA:565899
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Hypoglycemia, Skeletal muscle atrophy, Decreased liver function, Abnormal ... ORPHA:42
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Foot dorsiflexor weakness, Distal amyotrophy OMIM:606595
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Upper limb muscle weakness, Foot dorsiflexor weakness, Distal amyotrophy OMIM:302802
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Foot dorsiflexor weakness, Distal amyotrophy OMIM:600882
Coenzyme Q10 Deficiency, Primary, 4
Increased intramyocellular lipid droplets OMIM:612016
Amyotrophic Lateral Sclerosis 18
Skeletal muscle atrophy OMIM:614808
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Skeletal muscle atrophy OMIM:254950
Ullrich Congenital Muscular Dystrophy 2
Facial palsy, Increased variability in muscle fiber diameter, Flexion contracture, Congenital mus... OMIM:616470
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Camptodactyly of toe, Hyperglycemia, Abnormal muscle fiber morphology, Joint cont... OMIM:175700
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Flexion contracture, Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Art... OMIM:616867
Adult-Onset Distal Myopathy Due To Vcp Mutation
Weakness of the intrinsic hand muscles, Foot dorsiflexor weakness, Intrinsic hand muscle atrophy,... ORPHA:329478
Myopathy Due To Myoadenylate Deaminase Deficiency
Rhabdomyolysis, Myopathy, Skeletal muscle atrophy OMIM:615511
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy ORPHA:101078
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Failure to thrive, Generalized amyotrophy, Elevated hepatic transaminase OMIM:613561
Combined Oxidative Phosphorylation Deficiency 12
Ragged-red muscle fibers, Failure to thrive OMIM:614924
Charcot-Marie-Tooth Disease Type 1B
Skeletal muscle hypertrophy, Skeletal muscle atrophy ORPHA:101082
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Type 2 muscle fiber atrophy, Myopathy, Limb muscle weakness OMIM:605809
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Proximal amyotrophy OMIM:608030
X-Linked Intellectual Disability, Seemanova Type
Small for gestational age, Skeletal muscle atrophy, Cryptorchidism, Hypoplasia of the musculature... ORPHA:85323
Riboflavin Transporter Deficiency
Diabetes insipidus, Skeletal muscle atrophy, Limb muscle weakness, Cachexia, Facial palsy, Hypogo... ORPHA:97229
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Limb muscle weakness, Skeletal muscle atrophy OMIM:614895
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Rhabdomyolysis, Fasting hypoglycemia, Polycystic ovaries, Skeletal muscle atrophy, Hypercholester... ORPHA:370
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Skeletal muscle atroph... OMIM:245400
Myasthenic Syndrome, Congenital, 6, Presynaptic
Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita OMIM:254210
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Failure to thrive in infancy, Skeletal muscle atrophy, Myopathy, Weakness of facial musculature, ... ORPHA:254875
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Myopathy, Flexion contracture, Skeletal muscle atrophy OMIM:310440
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Proximal muscle weakness in upper limbs, Flexion contracture, Skeletal muscle atrophy, Intrinsic ... ORPHA:101097
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatic failure, Flexion contracture, Portal hypertension, Skeletal muscle atrophy, Abnormal musc... ORPHA:367
Spastic Paraplegia 30, Autosomal Dominant
Lower limb amyotrophy, Lower limb muscle weakness OMIM:610357
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Left ventricular noncompaction, Flexion contracture, Ragged-red muscle fibers, Abnormal mitochond... OMIM:252011
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Distal amyotrophy, Foot dorsiflexor weakness, Limb muscle weakness OMIM:608340
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Achilles tendon contracture, Congenital muscular dystrophy, Shoulder girdle muscle atrophy, EMG: ... OMIM:606612
Autosomal Dominant Spastic Paraplegia Type 6
Skeletal muscle atrophy ORPHA:100988
Deafness-Vitiligo-Achalasia Syndrome
Skeletal muscle atrophy ORPHA:3239
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Ragged-red muscle fibers, Generalized amyotrophy, Myopathy, Weakness of facial musculature, Hyper... ORPHA:352447
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Distal amyotrophy, Foot dorsiflexor weakness, Flexion contracture, Limb muscle weakness OMIM:609260
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Generalized amyotrophy, Hypoglycemia OMIM:610006
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Adrenogenital syndrome, Increased serum test... OMIM:202010
Spastic Paraplegia 76, Autosomal Recessive
Lower limb muscle weakness, Skeletal muscle atrophy OMIM:616907
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Distal amyotrophy OMIM:607734
Autosomal Recessive Spastic Paraplegia Type 26
Premature ovarian insufficiency, Decreased serum testosterone concentration, Skeletal muscle atrophy ORPHA:101006
Glycogen Storage Disease Ixd
Skeletal muscle atrophy OMIM:300559
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Distal lower limb muscle weakness, Hypercholesterolemia, Distal amyotrophy ORPHA:94124
Ataxia-Deafness-Intellectual Disability Syndrome
Skeletal muscle atrophy ORPHA:1188
Myasthenic Syndrome, Congenital, 1B, Fast-Channel