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Gene: Sgcg MGI:1346524

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
sarcoglycan, gamma (dystrophin-associated glycoprotein)
Synonyms:
5430420E18Rik,  gamma-SG

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No 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.

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 Sgcg 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 Sgcg by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase conc... OMIM:253700
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Calf muscle pseudohypertrophy, Neck flexor weakness, Elevated circulating creat... ORPHA:353

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Elevated circulating creat... OMIM:601954
Distal Myopathy With Anterior Tibial Onset
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Progressive... ORPHA:178400
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Distal muscle weakness, Elevated circulating creatine kinase concentrati... OMIM:608807
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Ventricular hypertrophy, Scapular winging, Elevated circulating creatine kinase concentration, Pr... OMIM:601287
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Progressive distal muscl... OMIM:609452
Miyoshi Muscular Dystrophy 3
Elevated circulating creatine kinase concentration, Quadriceps muscle atrophy, Quadriceps muscle ... OMIM:613319
Miyoshi Muscular Dystrophy 1
Distal muscle weakness, Elevated circulating creatine kinase concentration, Distal amyotrophy, Mu... OMIM:254130
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Facial palsy, Elevated circulating creatine kinase concentration, Quadriceps muscle atrophy, Prox... OMIM:611307
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Progressive distal muscle weakness, Respirato... ORPHA:399058
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Elevated circulating creatine kinase concentration, Proximal muscle weakness, Ventricular septal ... OMIM:612998
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Elevated circulati... OMIM:604286
Muscular Dystrophy, Limb-Girdle, Type 1H
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, P... OMIM:613530
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Neck flexor weakness, Facial palsy, ... OMIM:254110
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Elevated circulating creatine kinase concentration, Reduced muscle fiber alpha dystroglycan, Prox... ORPHA:34515
Distal Anoctaminopathy
Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Peroneal muscle atrophy, ... ORPHA:399096
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness, Fatty replacement of skeletal muscle, Highly elevated creatine kinase, ... OMIM:618848
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Elevated circulating creatine ... OMIM:611588
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Skeletal muscle atrophy, Torticollis, Elevated circulating creatine kinase concentration, Fatty r... OMIM:613204
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Scapular winging, Distal muscle weakness, Neck flexor weakness, Elevated circulating creatine kin... OMIM:601846
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Elevated circulating creatine k... OMIM:618655
Distal Myotilinopathy
Multiple joint contractures, Elevated circulating creatine kinase concentration, Progressive dist... ORPHA:98911
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Elevated circulating creatine k... OMIM:619566
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Distal muscle weakness, Progressive muscle weakness, Talipes cavus equin... ORPHA:59135
Polyglucosan Body Myopathy 2
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Elevated circu... OMIM:616199
Dpm3-Cdg
Dilated cardiomyopathy, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weaknes... ORPHA:263494
Muscular Dystrophy, Congenital, 1B
Facial palsy, Elevated circulating creatine kinase concentration, Gowers sign, Achilles tendon co... OMIM:604801
Gne Myopathy
Fatty replacement of skeletal muscle, Quadriceps muscle weakness, Abnormality of the foot muscula... ORPHA:602
Distal Nebulin Myopathy
Neck flexor weakness, Progressive distal muscle weakness, Ankle flexion contracture, Fatty replac... ORPHA:399103
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Myopathy, Distal, 3
Distal muscle weakness, Split hand, Distal amyotrophy, Muscular dystrophy, Late-onset proximal mu... OMIM:610099
Myopathy, Myofibrillar, 2
Distal muscle weakness, Elevated circulating creatine kinase concentration, Respiratory insuffici... OMIM:608810
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Proximal muscle weak... OMIM:613723
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Proximal muscle weak... OMIM:253601
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase concentration, Limb... OMIM:609308
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Dilated cardiomyopat... OMIM:616827
Miyoshi Myopathy
Distal lower limb amyotrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, Respira... ORPHA:45448
Finnish Upper Limb-Onset Distal Myopathy
Progressive distal muscle weakness, Fatty replacement of skeletal muscle, Progressive proximal mu... ORPHA:399086
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... OMIM:612999
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Scapular winging, Distal muscle weakness, Autophagic vacuoles, Centrally nucleated skeletal muscl... OMIM:608423
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 8
Elevated circulating creatine kinase concentration, Proximal muscle weakness, Gowers sign, Calf m... OMIM:618135
Myopathy, Distal, Infantile-Onset
Calf muscle hypertrophy, Distal muscle weakness, Elevated circulating creatine kinase concentrati... OMIM:160300
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Neck flexor weakness, Facial pals... OMIM:616852
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12
Limb-girdle muscle weakness, Gowers sign, Elevated circulating creatine kinase concentration, Mus... OMIM:616094
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Scapular winging, Pelvic girdle amyotrophy, Lower limb muscle weakness, Elevated circulating crea... ORPHA:267
Myopathy, Vacuolar, With Casq1 Aggregates
Muscle weakness, Elevated circulating creatine kinase concentration, Muscle fiber calsequestrin 1... OMIM:616231
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase concentration, Ankl... OMIM:613818
Cardiomyopathy, Dilated, 1X
Elevated circulating creatine kinase concentration, Proximal muscle weakness, Gowers sign, Dilate... OMIM:611615
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Bulbar palsy, Facial palsy, Elevated circulating creatine kinase concentration, Gowers sign, Flex... OMIM:603511
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Skeletal muscle hypertrophy, Elevated circulating creatine kinase concentration, Proximal muscle ... OMIM:613158
Duchenne Muscular Dystrophy
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Proximal muscle weak... ORPHA:98896
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Pr... OMIM:300696
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Neck flexor weakness, Eleva... ORPHA:178464
Muscular Dystrophy, Becker Type
Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentration, Cardiomyopathy... OMIM:300376
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Fatigable weakness of distal limb muscles, Ankle weaknes... ORPHA:98912
Facioscapulohumeral Muscular Dystrophy 2, Digenic
Scapular winging, Facial palsy, Beevor's sign, Pelvic girdle muscle weakness, Foot dorsiflexor we... OMIM:158901
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy, Muscle weakness OMIM:159050
Muscular Dystrophy, Progressive Pectorodorsal
Scapular winging, Shoulder girdle muscle weakness, Elevated circulating creatine kinase concentra... OMIM:310095
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase concentration, Prox... OMIM:615352
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Elevated circulating creatine kinase concentration, Proximal muscle weakness, Gowers sign, Skelet... OMIM:613157
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Elevated circulating creatine kinase concentration, Ankle flexion contracture, ... OMIM:608099
Oculopharyngodistal Myopathy 2
Bulbar palsy, Distal muscle weakness, Elevated circulating creatine kinase concentration, Fatty r... OMIM:618940
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4
Generalized muscle weakness, Elevated circulating creatine kinase concentration, Muscular dystrophy OMIM:613152
Congenital Myopathy 10B, Mild Variant
Neck flexor weakness, Elbow contracture, Elevated circulating creatine kinase concentration, Fatt... OMIM:620249
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Neck flexor weakness, Elbow contracture, Elevated circulating creatine kinase co... OMIM:620386
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Elevated circulating creatine kinase concentration, First degree atrioventricular block, Peroneal... OMIM:181350
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, P... ORPHA:86812
Myopathy, Myofibrillar, 3
Elevated circulating creatine kinase concentration, Progressive distal muscle weakness, Proximal ... OMIM:609200
Nonaka Myopathy
Distal muscle weakness, Elevated circulating creatine kinase concentration, Distal amyotrophy, EM... OMIM:605820
Inclusion Body Myositis
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Abnormal muscle fibe... ORPHA:611
Myopathy, Distal, 5
Myopathy, Distal amyotrophy, Distal upper limb muscle weakness, Muscle fiber splitting, Weakness ... OMIM:617030
Myopathy, Sarcoplasmic Body
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... OMIM:620286
Combined Oxidative Phosphorylation Deficiency 49
Progressive muscle weakness, Ragged-red muscle fibers, Elevated circulating creatine kinase conce... OMIM:619024
Rippling Muscle Disease 2
Elevated circulating creatine kinase concentration, Proximal muscle weakness, Gowers sign, Skelet... OMIM:606072
Welander Distal Myopathy
Distal amyotrophy, Distal muscle weakness, Mildly elevated creatine kinase, Rimmed vacuoles OMIM:604454
Amish Nemaline Myopathy
Hip contracture, Shoulder flexion contracture, Respiratory insufficiency due to muscle weakness, ... ORPHA:98902
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Distal muscle weakness, Autophagic vacuoles, Elevated circulating creatine kinase concentration, ... ORPHA:266
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Hip contracture, Shoulder flexion contracture, Progressive muscle weakness, Proximal amyotrophy, ... OMIM:605355
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Calf muscle pseudohypertrophy, Scapular winging, Elevated circulating creatine kinase concentrati... ORPHA:62
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... OMIM:160150
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase conc... OMIM:253700
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Elevated circulating creatine kinase concentration, Proximal muscle weakness, Gowers sign, Dilate... OMIM:612937
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... OMIM:616516
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Elevated circulating creatine kinase concentration, Respiratory insufficiency due to muscle weakn... OMIM:607855
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Poor head control, Elevated circulating creatine kinase concentration, Proximal muscle weakness, ... OMIM:300717
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Proximal lower limb am... OMIM:158600
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy
Muscular dystrophy, Muscle weakness OMIM:253590
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Distal muscle weakness, Camptodactyly of finger, Elevated circulating creatine kinase concentrati... OMIM:617072
Myopathy, Myofibrillar, 6
Scapular winging, Distal muscle weakness, Elevated circulating creatine kinase concentration, Fac... OMIM:612954
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Abdominal wall muscle weakness, Elevated circulating creatine kina... OMIM:615424
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Facial palsy, Elevated circulating creatine kinase concentration, Proximal muscle weakness, Achil... OMIM:608840
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Rhabdomyolysis, Susceptibility To, 1
Distal muscle weakness, Elevated circulating creatine kinase concentration, Centrally nucleated s... OMIM:620235
Muscular Dystrophy, Congenital, Lmna-Related
Hip contracture, Elbow contracture, Elevated circulating creatine kinase concentration, Scapulope... OMIM:613205
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal amyotrophy, Distal muscle weakness, Mildly elevated creatine kinase, Fiber type grouping OMIM:614369
Danon Disease
Myocardial necrosis, Distal muscle weakness, Elevated circulating creatine kinase concentration, ... OMIM:300257
Facioscapulohumeral Muscular Dystrophy 1
Skeletal muscle atrophy, Scapular winging, Abdominal wall muscle weakness, Facial palsy, Elevated... OMIM:158900
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Elevated circulating creatine kinase concentration, Proximal upper limb amyotrophy, Myopathy, Sho... OMIM:609115
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Proximal muscle weakness, Proximal amyotrophy, Muscular dystrophy, Neck ... OMIM:614302
Muscular Dystrophy, Congenital, With Rapid Progression
Congenital muscular dystrophy, Muscle weakness OMIM:254100
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Cardiomyopathy... ORPHA:603
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, Elevated ... OMIM:167320
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased circulating cre... OMIM:302045
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentration, Reduced muscle... ORPHA:280333
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Scapular winging, Abdominal wall muscle weakness, Elevat... OMIM:619733
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Scapular winging, Myositis, Facial palsy, Elevated circulating creatine kinase concentration, Fle... OMIM:253600
Myopathy, Distal, Tateyama Type
Neck flexor weakness, Elevated circulating creatine kinase concentration, Hand muscle weakness, C... OMIM:614321
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... OMIM:620138
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Distal muscle weakness, Distal amyotrophy, Type 1 muscle fiber predominance, Inc... OMIM:619042
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Myopathy, Elevated circulating creatine kinase concentration, Scapulohumeral muscular dystrophy OMIM:160570
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Elevated circulating creatine kinase concentration, Proximal muscle weakness, Respiratory insuffi... OMIM:300718
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Abdominal wall muscle weakness, Elevated circulating creatine kinase concentrat... OMIM:618129
Bethlem Myopathy 2
Scapular winging, Elevated circulating creatine kinase concentration, Proximal muscle weakness, F... OMIM:616471
Mitochondrial Myopathy With Diabetes
Facial palsy, Elevated circulating creatine kinase concentration, Proximal muscle weakness, Ragge... OMIM:500002
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Progressive distal muscle weakness, Calf muscle hypoplasia, Increa... ORPHA:488650
Amyotrophic Lateral Sclerosis 27, Juvenile
Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Progressive muscle weakness... OMIM:620285
Bethlem Myopathy
Multiple joint contractures, Reduced muscle collagen VI, Elevated circulating creatine kinase con... ORPHA:610
Muscular Dystrophy, Cardiac Type
Cardiomyopathy, Elevated circulating creatine kinase concentration, Muscular dystrophy OMIM:309930
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Distal muscle weakness, Cardiomegaly, Proximal muscl... OMIM:618654
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Distal muscle weakness, Abnormal muscle fiber morphology... ORPHA:598
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Foot dorsiflexor weakness, Peroneal muscle atrophy, Scapuloperoneal weakness, Z-band streaming, T... OMIM:181400
Muscular Dystrophy, Congenital, Megaconial Type
Facial palsy, Elevated circulating creatine kinase concentration, Gowers sign, Dilated cardiomyop... OMIM:602541
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency du... OMIM:617066
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Neck flexor weakness, Facial palsy, Elevated circulating creatine kinase concentration, Ragged-re... OMIM:616209
Congenital Muscular Dystrophy Without Intellectual Disability
Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Achilles tendon co... ORPHA:370980
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ... ORPHA:206549
Myopathy, Myofibrillar, 5
Elevated circulating creatine kinase concentration, Proximal muscle weakness, Muscle fiber cytopl... OMIM:609524
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... OMIM:271150
Spinal Muscular Atrophy, Jokela Type
Skeletal muscle atrophy, Spinal muscular atrophy, Elevated circulating creatine kinase concentrat... OMIM:615048
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Neck flexor weakness, Elevated circulating creatine kinase concentration, Proxi... OMIM:603689
Desminopathy
Neck flexor weakness, Respiratory insufficiency due to muscle weakness, Progressive muscle weakne... ORPHA:98909
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Facial palsy, Elevated circulating creatine kinase concentration, Flexion contracture, Macrogloss... OMIM:613155
Congenital Myopathy 14
Hip contracture, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Flex... OMIM:618414
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Elevated circulating creatine kinase concentration... ORPHA:254361
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Progressive external ophthalmoplegia, Respiratory insufficiency due to muscle weakness, Progressi... ORPHA:663
Myopathy, Distal, 4
Distal lower limb amyotrophy, Skeletal muscle atrophy, Proximal muscle weakness, Thenar muscle we... OMIM:614065
Multifocal Motor Neuropathy
Progressive muscle weakness, Limb muscle weakness, Weakness of long finger extensor muscles, Prog... ORPHA:641
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Hypoglycosylation of alpha-dystroglycan, Poor head control, Elevated circulating creatine kinase ... OMIM:615350
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle... ORPHA:169186
Myopathy, Distal, 1
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Distal muscle weakness, Elevated circu... OMIM:160500
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Neck flexor weakness, Ragged-red muscle fibers, Proximal... ORPHA:457050
Myopathy, Tubular Aggregate, 1
Elevated circulating creatine kinase concentration, Proximal muscle weakness, External ophthalmop... OMIM:160565
Congenital Myopathy 18
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, F... OMIM:620246
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Hypoglycosylation of alpha-dystroglycan, Scapular winging, Elevated circulating creatine kinase c... OMIM:616052
Amyotrophic Lateral Sclerosis 8
Skeletal muscle atrophy, Distal muscle weakness, Proximal muscle weakness, Progressive muscle wea... OMIM:608627
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Distal muscle weakness, Ankle flexion contracture, Centrally nucleated s... OMIM:617760
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Fatiguable weakness of proximal limb muscles, Muscle ... ORPHA:2593
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... OMIM:616812
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, External ophth... OMIM:255320
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Elevated circulating creatine kinase concentra... ORPHA:1878
Myopathy And Diabetes Mellitus
Distal lower limb amyotrophy, Achilles tendon contracture, Progressive proximal muscle weakness, ... ORPHA:2596
Myasthenic Syndrome, Congenital, 17
Muscle weakness, Type 1 muscle fiber predominance OMIM:616304
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, G... OMIM:117000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Facial palsy, Elevated circulating creatine kinase concentration, Proximal muscle weakness, Flexi... OMIM:613156
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Scapular winging, Proximal muscle weakness, Angulated muscle fibers, Shoulder girdle muscle weakn... OMIM:619477
Hypertrophia Musculorum Vera
Calf muscle hypertrophy OMIM:145800
Oculopharyngodistal Myopathy
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Progressive external ophth... ORPHA:98897
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Hip contracture, Scapular winging, Paraspinal muscle hypertrophy, Knee flexion contracture, Conge... OMIM:602484
Amyotrophic Lateral Sclerosis 20
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles OMIM:615426
Congenital Myopathy 3 With Rigid Spine
Poor head control, Neck flexor weakness, Facial palsy, Centrally nucleated skeletal muscle fibers... OMIM:602771
Nemaline Myopathy 6
Skeletal muscle atrophy, Neck flexor weakness, Elevated circulating creatine kinase concentration... OMIM:609273
Congenital Myopathy 6 With Ophthalmoplegia
Scapular winging, Muscle fiber inclusion bodies, Distal muscle weakness, Proximal muscle weakness... OMIM:605637
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Calf muscle pseudohypertrophy, Scapular winging, Neck flexor weakness, Centrally nucleated skelet... OMIM:608358
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles, Elevated circulating creatine kinase ... OMIM:609500
Muscle Hypertrophy
Skeletal muscle hypertrophy OMIM:614160
Inclusion Body Myositis
Inflammatory myopathy, Distal muscle weakness, Proximal muscle weakness, Rimmed vacuoles OMIM:147421
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Gowers sign, Z-band streami... OMIM:619178
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Hypoglycosylation of alpha-dystroglycan, Poor head control, Elevated circulating creatine kinase ... OMIM:615351
Myasthenic Syndrome, Congenital, 14
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Gowers... OMIM:616228
Adult-Onset Nemaline Myopathy
Neck flexor weakness, Respiratory insufficiency due to muscle weakness, Flexion contracture, Incr... ORPHA:171442
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Neck flexor... OMIM:618138
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Generalized muscle weakne... ORPHA:34516
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Congenital muscular dystrophy, Elevated circulating creatine kinase concentration, Muscular dystr... OMIM:613151
Zebra Body Myopathy
Torticollis, Distal muscle weakness, Autophagic vacuoles, Facial palsy, Elevated circulating crea... ORPHA:97240
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Poor head control, Facial palsy, Ophthalmoplegia, Flexion contracture, K... OMIM:616313
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, P... OMIM:619518
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Elevated circulating creatine kinase concentration, Proximal muscle weakness, Ragged-red muscle f... OMIM:616924
Myasthenic Syndrome, Congenital, 12
Facial palsy, Proximal muscle weakness, Gowers sign, Ragged-red muscle fibers, Proximal amyotroph... OMIM:610542
Charcot-Marie-Tooth Disease Type 1B
Skeletal muscle hypertrophy, Skeletal muscle atrophy, Elevated circulating creatine kinase concen... ORPHA:101082
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Proximal muscle weak... OMIM:615980
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur... OMIM:620068
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Skeletal muscle atrophy, Elbow contracture, Facial palsy, Elevated circulating creatine kinase co... OMIM:606612
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Poor head control, Generalized muscle weakness, Increased variability in muscle fiber diameter, W... OMIM:620265
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Elevated circulating creatine kinase concentration, Muscular dystrophy OMIM:613869
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... ORPHA:98905
Congenital Muscular Dystrophy With Intellectual Disability
Hypoglycosylation of alpha-dystroglycan, Multiple joint contractures, Facial palsy, Elevated circ... ORPHA:370968
Creatine Phosphokinase, Elevated Serum
Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, Myopathy, I... OMIM:123320
Marinesco-Sjogren Syndrome
Skeletal muscle atrophy, Short metacarpal, Elevated circulating creatine kinase concentration, Ce... OMIM:248800
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Calf muscle pseudohypertrophy, Neck flexor weakness, Elevated circulating creat... ORPHA:353
Moderate Multiminicore Disease With Hand Involvement
Facial palsy, Generalized muscle weakness, Intrinsic hand muscle atrophy, Axial muscle weakness, ... ORPHA:178145
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ... OMIM:619473
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Poor head control, Cardiomyopathy, Hypoalbumine... OMIM:613752
Muscular Dystrophy, Mabry Type
Late-onset muscular dystrophy OMIM:310000
Congenital Myopathy 5 With Cardiomyopathy
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, D... OMIM:611705
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Congenital muscular dystrophy OMIM:254000
Rippling Muscle Disease 1
Skeletal muscle hypertrophy OMIM:600332
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Scapular winging, Progressive external ophthalmoplegia, Elevated circula... OMIM:617069
Nemaline Myopathy 2
Skeletal muscle atrophy, Neck flexor weakness, Fatty replacement of skeletal muscle, Flexion cont... OMIM:256030
Myasthenic Syndrome, Congenital, 23, Presynaptic
Bulbar palsy, Fatigable weakness, Calf muscle hypertrophy, Neck muscle weakness, Muscle weakness OMIM:618197
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Elevated circulating creatine kinase concentration, Gowers sign, Calf muscle hypertrophy, Myopath... ORPHA:119
Oculopharyngodistal Myopathy 4
Distal muscle weakness, Autophagic vacuoles, Elevated circulating creatine kinase concentration, ... OMIM:619790
Congenital Muscular Dystrophy, Ullrich Type
Long toe, Torticollis, Elevated circulating creatine kinase concentration, Abnormal muscle fiber ... ORPHA:75840
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Facial palsy, Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy, Myopathy,... OMIM:300580
Muscular Dystrophy, Duchenne Type
Waddling gait, Abnormal EKG, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase ... OMIM:310200
Myopathy, Centronuclear, 4
Abnormal circulating creatine kinase concentration, Muscle weakness, Type 1 muscle fiber predomin... OMIM:614807
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Highly elevated creatine kinase, Myopathy, Increased variability in muscle fiber diameter, Centra... OMIM:618992
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Skeletal muscle atrophy, Bulbar palsy, Progressive external ophthalmoplegia, Distal muscle weakne... ORPHA:254875
Severe X-Linked Mitochondrial Encephalomyopathy
Increased serum pyruvate, Skeletal muscle atrophy, Generalized muscle weakness, Increased variabi... ORPHA:238329
Mitochondrial Myopathy, Infantile, Transient
Increased serum pyruvate, Elevated circulating creatine kinase concentration, Facial palsy, Respi... OMIM:500009
Oculopharyngeal Muscular Dystrophy
Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, Ophthalmopl... ORPHA:270
Muscle Filaminopathy
Extremely elevated creatine kinase, Scapular winging, Neck flexor weakness, Fatty replacement of ... ORPHA:171445
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Hereditary Continuous Muscle Fiber Activity
Elevated circulating creatine kinase concentration, Congenital diaphragmatic hernia, Type 1 muscl... ORPHA:972
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Elevated circulating creatine kinase concentration, Proximal muscle weakness, Quadriceps muscle w... ORPHA:206546
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Progressive external ophthalmoplegia, Proximal muscle weakness, Progressive muscle weakness, Ragg... OMIM:609286
Glycogen Storage Disease Ixd
Skeletal muscle atrophy, Distal muscle weakness, Elevated circulating creatine kinase concentrati... OMIM:300559
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Poor head control, Intermittent episode... ORPHA:324604
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Skeletal muscle hypertrophy, Macroglossia, Myopathy, Muscle weakness ORPHA:2349
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Muscular dystrophy OMIM:204730
Congenital Myopathy 10A, Severe Variant
Poor head control, Facial palsy, Elevated circulating creatine kinase concentration, Camptodactyl... OMIM:614399
Muscular Dystrophy, Congenital, With Or Without Seizures
Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase concentration, Prox... OMIM:620166
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc... OMIM:226670
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... OMIM:616470
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Elevated circulating creatine kinase concentration, Reduced muscle fiber alpha ... ORPHA:206559
Digital Extensor Muscle Aplasia-Polyneuropathy
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Camptodactyly of ... ORPHA:2926
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Distal muscle weakness, Elevated c... OMIM:617070
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Glycogen accumulatio... ORPHA:368
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Progressive external ophthalmoplegia, Facial palsy, Ragged-red muscle fibers, Generalized muscle ... OMIM:609283
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Elevated circulating creatine kinase concentration, Proximal muscle weakness, Achilles tendon con... OMIM:607155
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Proximal muscle weakness, Right ventricular dilatation, Myopathy, Abnormal circulating creatine k... ORPHA:369840
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Gowers sign, Flexion contra... OMIM:618484
Brody Disease
Skeletal muscle hypertrophy, Flexion contracture, Muscle weakness OMIM:601003
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Muscular dystrophy OMIM:614830
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Ragg... ORPHA:276435
Childhood-Onset Nemaline Myopathy
Scapular winging, Respiratory insufficiency due to muscle weakness, Fatigable weakness of bulbar ... ORPHA:171439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Elevated circulating creatine k... OMIM:613954
Ataxia-Oculomotor Apraxia Type 4
Abnormal toe morphology, Progressive distal muscular atrophy, Distal lower limb muscle weakness, ... ORPHA:459033
Sandhoff Disease, Adult Form
Muscle fiber atrophy, Upper limb muscle weakness, Elevated circulating creatine kinase concentrat... ORPHA:309169
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Scapular winging, Increased circulating ferritin concentration, Progressive muscle weakness, Ragg... OMIM:600462
Hemihyperplasia, Isolated
Skeletal muscle hypertrophy OMIM:235000
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Facial palsy, Increased laxity of fingers, Proximal musc... OMIM:254090
8p23.1 deletion syndrome
Atrial septal defect, Atrioventricular canal defect, Congenital diaphragmatic hernia, Abnormal he... DECIPHER:39
Congenital Myopathy 20
Skeletal muscle atrophy, Scapular winging, Ulnar deviation of the hand, Elbow contracture, Toe jo... OMIM:620310
Congenital Myopathy 4A, Autosomal Dominant
Bulbar palsy, Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, R... OMIM:255310
Congenital Muscular Dystrophy, Fukuyama Type
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Flexion contracture, Dilated ca... ORPHA:272
Paramyotonia Congenita
Skeletal muscle hypertrophy, Muscle weakness OMIM:168300
Marinesco-Sjögren Syndrome
Skeletal muscle atrophy, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Abnorma... ORPHA:559
Myotonia, Potassium-Aggravated
Skeletal muscle hypertrophy, Skeletal muscle atrophy, Elevated circulating creatine kinase concen... OMIM:608390
Hypotonia, Infantile, With Psychomotor Retardation
Respiratory insufficiency due to muscle weakness, Myopathy, Ventricular septal defect, Increased ... OMIM:616816
Muscular Dystrophy, Barnes Type
Myopathy, Muscular dystrophy OMIM:158800
Congenital Myopathy 24
Scapular winging, Facial palsy, Gowers sign, Cardiomyopathy, Abnormal circulating creatine kinase... OMIM:617336
Central Core Disease
Multiple joint contractures, Elevated circulating creatine kinase concentration, Respiratory insu... ORPHA:597
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Increased serum pyruvate, Myopathy, Ragged-red muscle fibers, Muscle weakness OMIM:545000
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia OMIM:226735
Congenital Myopathy With Myasthenic-Like Onset
Scapular winging, Multiple joint contractures, Elevated circulating creatine kinase concentration... ORPHA:424107
Combined Oxidative Phosphorylation Deficiency 6
Increased serum pyruvate, Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakne... OMIM:300816
X-Linked Charcot-Marie-Tooth Disease Type 5
Skeletal muscle hypertrophy, Muscle weakness ORPHA:99014
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Ophthalmoplegia, Cardiomyop... ORPHA:401768
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Poor head control, Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Respi... ORPHA:486815
Congenital Myopathy 23
Skeletal muscle atrophy, Scapular winging, Gowers sign, Flexion contracture, Facial diplegia, Nec... OMIM:609285
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Ankle flexion contracture,... OMIM:616668
Myotonia Congenita, Autosomal Recessive
Skeletal muscle hypertrophy, Muscle hypertrophy of the lower extremities, Muscle weakness OMIM:255700
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Total ophthalmoplegia, Skeletal muscle atrophy, Progressive external ophthalmoplegia, Neck flexor... OMIM:157640
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Congenital muscular dystrophy ORPHA:1875
Myopathy, X-Linked, With Excessive Autophagy
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Gowers sign, Flexion... OMIM:310440
Congenital Myopathy 15
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Type 1 musc... OMIM:620161
Myotonia With Skeletal Abnormalities And Mental Retardation
Skeletal muscle hypertrophy, Irregular femoral epiphysis, Firm muscles, Genu valgum OMIM:255710
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Poor head control, Elevated circulating creatine kinase concentrati... OMIM:613153
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Elevated circulatin... OMIM:617114
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Hammertoe, Talipes equino... OMIM:608340
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Generalized muscle w... OMIM:614096
Myotonia Permanens
Ophthalmoplegia, Generalized muscle hypertrophy, Ophthalmoparesis, Skeletal muscle hypertrophy, M... ORPHA:99735
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Thenar muscle atrophy, Dilated cardiomyopathy, Distal lower limb muscle weakness, Interosseus mus... OMIM:619903
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Spinal muscular atrophy, Patent ductus arteriosus, Flexion contracture, ... OMIM:616867
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Muscle fiber hyaline bodies, Elevated circulating creatine kinase concentration, Centrally nuclea... OMIM:255160
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Poor head control, Distal muscle weakness, Elevated circulating creatine kinase... ORPHA:353327
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Facial palsy, Elevated circulating creatine kinase concentration, Left ventricular noncompaction ... OMIM:619424
Acetazolamide-Responsive Myotonia
Skeletal muscle hypertrophy, Ophthalmoplegia, Ophthalmoparesis ORPHA:99736
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Hallux valgus, Dislocation of toes, Left ventricular hypertrophy, Elevat... OMIM:300280
Coenzyme Q10 Deficiency, Primary, 1
Elevated circulating creatine kinase concentration, Progressive muscle weakness, Ragged-red muscl... OMIM:607426
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Progressive distal muscle weakness, Proximal muscle weakness, Fatty replacement of skeletal muscl... ORPHA:397744
Infantile Refsum Disease
Cardiomyopathy, Elevated circulating phytanic acid concentration, Facial palsy, Progressive muscl... ORPHA:772
Myotonia Congenita, Autosomal Dominant
Skeletal muscle hypertrophy, Muscle weakness OMIM:160800
Congenital Fiber-Type Disproportion Myopathy
Progressive muscle weakness, Flexion contracture, Knee flexion contracture, Foot dorsiflexor weak... ORPHA:2020
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Proximal muscle weaknes... ORPHA:352479
Amyotrophic Lateral Sclerosis 21
Bulbar palsy, Distal muscle weakness, Elevated circulating creatine kinase concentration, Central... OMIM:606070
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Increased intramy... OMIM:617228
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Elevated circulating creatine kinase concentration, Muscular dystrophy OMIM:615181
Cap Myopathy
Poor head control, Facial palsy, Abnormal muscle fiber morphology, Fatiguable weakness of proxima... ORPHA:171881
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Proximal muscle... OMIM:618823
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Skeletal muscle atrophy, Myositis, Elevated circulating creatine kinase concentration, Centrally ... OMIM:615422
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Decreased circulating ferritin concentration, Muscle weakness, Abnormal muscle fiber protein expr... ORPHA:330054
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Hand muscle atrophy, Intermittent episodes of respiratory insufficiency due to muscle weakness, O... OMIM:601462
Hyperkalemic Periodic Paralysis
Hyponatremia, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Flexio... ORPHA:682
Ataxia-Telangiectasia-Like Disorder 2
Progressive muscle weakness, Joint contracture, Muscle weakness, Congenital diaphragmatic hernia OMIM:615919
X-Linked Centronuclear Myopathy
Weakness of facial musculature, Centrally nucleated skeletal muscle fibers, Fatigable weakness of... ORPHA:596
Congenital Disorder Of Glycosylation, Type Ie
Short palm, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Patent... OMIM:608799
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr... ORPHA:254864
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... ORPHA:536516
Typical Nemaline Myopathy
Neck flexor weakness, Elevated circulating creatine kinase concentration, Facial palsy, Fatigable... ORPHA:171436
Myopathy, Centronuclear, 5
Hip contracture, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Ophthalmop... OMIM:615959
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Right ventricular dilatation, Myopathy, Progressive proximal muscle weakness, Limb-girdle muscula... ORPHA:369847
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Elevated circulating crea... ORPHA:370959
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia OMIM:306950
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Progressive distal muscle weakness, Hand muscle weakness, Fatty replacement... ORPHA:98908
S-Adenosylhomocysteine Hydrolase Deficiency
Poor head control, Elevated circulating creatine kinase concentration, Abnormal circulating homoc... ORPHA:88618
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Progressive external ophthalmoplegia, Facial palsy, Elevated circulating creatine kinase concentr... OMIM:610131
Lipodystrophy, Familial Partial, Type 4
Skeletal muscle hypertrophy, Hypertriglyceridemia OMIM:613877
Satoyoshi Syndrome
Short metacarpal, Short metatarsal, Osteolytic defects of the phalanges of the hand, Genu valgum,... OMIM:600705
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets OMIM:619065
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Distal muscle weakness, Elevated c... OMIM:258450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Poor head control, Elevated circulating creatine kinase concentration, Respiratory insufficiency ... OMIM:615249
Shox-Related Short Stature
Tibial bowing, Skeletal muscle hypertrophy, Short foot, Genu valgum, Forearm undergrowth, Lower l... ORPHA:314795
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Centrally nucleated ske... OMIM:613327
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Increased variability in muscle fiber diameter, Poor head control, Elevated circulating creatine ... OMIM:616538
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Merrf
Myopathy, Ragged-red muscle fibers ORPHA:551
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Metaphyseal sclerosis, Metaphyseal chondrodysplasia, Metaphyseal widening, P... OMIM:260400
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Skeletal muscle atrophy, Myositis, Elevated circulating creatine kinase concentration, Calf muscl... ORPHA:565899
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Abnormal muscle fiber morphology, Episodic flaccid weakness, Respiratory pa... ORPHA:681
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Distal muscle weakness, Elevated circulating creatine kinase concentration, Proximal muscle weakn... ORPHA:52430
Charcot-Marie-Tooth Disease Type 1A
Calf muscle hypertrophy, Skeletal muscle atrophy, Distal muscle weakness, Diaphragmatic weakness ORPHA:101081
Cutis Laxa-Marfanoid Syndrome
Arachnodactyly, Flexion contracture, Abnormal heart valve morphology, Congenital diaphragmatic he... ORPHA:171719
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Elevated circulating creatine kinase concentration, Proximal muscle weakness, Rhabdomyolysis, Rag... OMIM:618416
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Congenital muscular dystrophy ORPHA:324416
Neuronal Intestinal Pseudoobstruction
Patent ductus arteriosus, Abnormal cardiac septum morphology, Congenital diaphragmatic hernia ORPHA:99811
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Elevated circulating creatine kinase concentration, Respiratory insufficiency due to muscle weakn... OMIM:609560
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Hypertriglyceridemia, Elevated circulating creatine kinase concentration... ORPHA:79240
Infantile-Onset X-Linked Spinal Muscular Atrophy
Skeletal muscle atrophy, Hip contracture, Distal muscle weakness, Interphalangeal joint contractu... ORPHA:1145
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Arachnodactyly, Congenital diaphragmatic hernia, Abnormal heart morphology OMIM:614100
Dystonia 7, Torsion
Skeletal muscle hypertrophy, Torticollis OMIM:602124
Adult-Onset Distal Myopathy Due To Vcp Mutation
Scapular winging, Abnormality of the musculature of the lower limbs, Distal muscle weakness, Prox... ORPHA:329478
Isaacs Syndrome
Calf muscle hypertrophy, Muscle weakness ORPHA:84142
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Calf muscle hypertrophy, Limb muscle weakness, Bulbar palsy, Elevated circulating creatine kinase... OMIM:313200
Myopathy, Centronuclear, 2
Scapular winging, Distal muscle weakness, Facial palsy, Centrally nucleated skeletal muscle fiber... OMIM:255200
Schwartz-Jampel Syndrome, Type 1
Skeletal muscle atrophy, Hip contracture, Bowing of the long bones, Elevated circulating creatine... OMIM:255800
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Secundum atrial septal defect, Patent foramen ovale, Patent ductus arter... OMIM:616866
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... OMIM:181405
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Myopathy, Ophthalmoplegia, Increased variability in muscle fiber diameter OMIM:125250
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Elevated circulating creatine kinase concentration, Gowers sign, Proximal amyotrophy, Upper limb ... ORPHA:209335
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Hypertriglyceridemia, Elevated circulating creatine kinase concentration... ORPHA:264580
Myopathy With Lactic Acidosis, Hereditary
Skeletal muscle atrophy, Distal muscle weakness, Elevated circulating creatine kinase concentrati... OMIM:255125
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Highly elevated creatin... ORPHA:258
Richieri Costa-Da Silva Syndrome
Decreased muscle mass, Diastasis recti, Metatarsus adductus, Genu valgum, Skeletal muscle hypertr... ORPHA:3101
Fetal Encasement Syndrome
Tetralogy of Fallot, Upper limb undergrowth, Congenital diaphragmatic hernia, Lower limb undergrowth OMIM:613630
Lipe-Related Familial Partial Lipodystrophy
Proximal muscle weakness in upper limbs, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:435660
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Increased variability in muscle fiber diameter OMIM:617915
Glycogen Storage Disease Due To Aldolase A Deficiency
Exercise-induced rhabdomyolysis, Decreased muscle mass, Hyperkalemia, EMG: myopathic abnormalitie... ORPHA:57
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/hypoplasia of the humerus, Aplasia/Hy... ORPHA:2141
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Macroglossia, Co... OMIM:613150
Dk1-Cdg
Progressive muscle weakness, Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Interstitial card... ORPHA:91131
Peroxisome Biogenesis Disorder 11B
Progressive muscle weakness, Muscle weakness OMIM:614885
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Scapular winging, Myositis, Elevated circulating creatine kinase concent... ORPHA:206569
Glycogen Storage Disease Vii
Elevated circulating creatine kinase concentration, Increased muscle glycogen content, Hyperurice... OMIM:232800
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy, Myo... ORPHA:2348
Triosephosphate Isomerase Deficiency
Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakness, Progressive muscle wea... OMIM:615512
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Flexion contracture,... OMIM:253800
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Achilles tendon cont... OMIM:615418
Pparg-Related Familial Partial Lipodystrophy
Calf muscle pseudohypertrophy, Hypertriglyceridemia, Abnormality of skeletal muscle fiber size, S... ORPHA:79083
Myasthenic Syndrome, Congenital, 19
Bulbar palsy, Poor head control, Distal muscle weakness, Facial palsy, Proximal muscle weakness, ... OMIM:616720
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Telangiectasia of the skin, Retinal telangiectasia, Congenital diaphragmatic hernia, Gait ataxia ORPHA:438134
Tbck-Related Intellectual Disability Syndrome
Skeletal muscle atrophy, Broad toe, Ventricular septal defect, Diastasis recti, Progressive muscl... ORPHA:488632
Oculopharyngodistal Myopathy 1
Distal muscle weakness, Autophagic vacuoles, Facial palsy, Elevated circulating creatine kinase c... OMIM:164310
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Progressive proximal muscle weakness, Myopathy, Cardiomyopathy, Shoulder gi... ORPHA:98907
Vocal Cord And Pharyngeal Distal Myopathy
Bulbar palsy, Distal muscle weakness, Abnormal morphology of musculature of pharynx, Ankle weakne... ORPHA:600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Increased endomysial connective tissue, Flexion contracture, Elevated circulating creatine kinase... OMIM:613154
Kearns-Sayre Syndrome
Skeletal muscle atrophy, Ragged-red muscle fibers, Progressive external ophthalmoplegia ORPHA:480
Myopathy, Myofibrillar, 8
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... OMIM:617258
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:261102
Dpm1-Cdg
Sandal gap, Elevated circulating creatine kinase concentration, Knee flexion contracture, Muscula... ORPHA:79322
Walker-Warburg Syndrome
Skeletal muscle atrophy, Abnormal circulating creatine kinase concentration, Muscular dystrophy, ... ORPHA:899
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Respiratory insufficiency due to muscle weakness, Elbow flexion contra... OMIM:619461
Congenital Myopathy 22A, Classic
Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, External ophthalmo... OMIM:620351
Arthrogryposis Multiplex Congenita 6
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congeni... OMIM:619334
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Skeletal muscle hypertrophy, Macroglossia, Large hands, Hypercholesterolemi... ORPHA:528
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Ventricular septal defect, Congenital diaphragmatic hernia OMIM:615524
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:228302
Greig Cephalopolysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Congenital diaphragmatic hernia, Preaxia... ORPHA:380
Cidec-Related Familial Partial Lipodystrophy
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Hypertriglyceridemia ORPHA:435651
Myoclonus, Intractable, Neonatal
Increased variability in muscle fiber diameter OMIM:617235
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Oculomotor nerve palsy, Facial palsy ORPHA:68
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Generalized muscle weakness, ... OMIM:620278
Mitochondrial Dna Depletion Syndrome 11
Progressive external ophthalmoplegia, Facial palsy, Elevated circulating creatine kinase concentr... OMIM:615084
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, External oph... ORPHA:169189
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Scapular winging, Progressive external ophthalmoplegia, Distal muscle we... OMIM:607459
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Elevated circula... ORPHA:98855
Adrenal Hypoplasia, Congenital
Hyponatremia, Muscular dystrophy OMIM:300200
Short Stature-Micrognathia Syndrome
Rhizomelia, Ventricular septal defect, Bowing of the legs, Coxa valga, Metaphyseal widening, 2-3 ... OMIM:617164
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Elevated circula... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Elevated circula... ORPHA:98853
Glycogen Storage Disease Due To Acid Maltase Deficiency
Facial hypotonia, Elevated circulating creatine kinase concentration, Glycogen accumulation in mu... ORPHA:365
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
External ophthalmoplegia, Increased variability in muscle fiber diameter, Flexion contracture OMIM:619026
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Syndactyly, Toe syndactyly, Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Abno... OMIM:601163
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Elevated circula... ORPHA:98863
Arts Syndrome
Progressive muscle weakness OMIM:301835
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Sandal gap, Congenital diaphragmatic hernia, Atrial septal defect, Tetra... OMIM:300887
Immunoneurologic Disorder, X-Linked
Progressive proximal muscle weakness OMIM:300076
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Progressive external ophthalmoplegia, Elevated circulating creatine kinase concentration, Respira... ORPHA:352447
Stiff Person Spectrum Disorder
Paraspinal muscle hypertrophy ORPHA:3198
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Poor head control, Tapered finger, Type 1 muscle fiber predominance, Increased variability in mus... OMIM:612949
Congenital Diaphragmatic Hernia
Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia ORPHA:2140
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Skeletal muscle atrophy, Autoamputation of digits, Distal muscle weakness, Progressive muscle wea... OMIM:256810
Glycogen Storage Disease Xv
Muscle weakness, Scapular winging, Cardiomyocyte hypertrophy, Type 1 muscle fiber predominance OMIM:613507
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal heart ... ORPHA:2847
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Congenital diaphragmatic hernia, Proximal placement of thumb, Abnormal thu... ORPHA:1120
Multicentric Carpotarsal Osteolysis Syndrome
Ulnar deviation of the hand, Congenital diaphragmatic hernia, Osteolysis involving tarsal bones, ... OMIM:166300
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Ventricular septal defect, Congenital diaphragmatic hernia ORPHA:1166
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Proximal muscle weakness, Ragged-red muscle fibers, Dilated cardiomyopathy, Ophthalmoparesis, Inc... ORPHA:70595
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Proximal muscle weakness, Gowers sign, Increased variability in muscle fiber diameter, Increased ... ORPHA:502423
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased serum pyruvate, Myofiber disarray, Myopathy, Increased variability in muscle fiber diam... OMIM:604377
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Scapular winging, Neck flexor weakness, Elevated circula... ORPHA:268
Acrocallosal Syndrome
Postaxial hand polydactyly, Congenital diaphragmatic hernia, Triphalangeal thumb ORPHA:36
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Abnormal muscle fiber morphology, Preaxia... OMIM:175700
Optic Atrophy 11
Facial diplegia, Bilateral talipes equinovarus, Increased variability in muscle fiber diameter, M... OMIM:617302
Glycogen Storage Disease Xii
Elevated circulating creatine kinase concentration, Myopathy, Hyperbilirubinemia, Increased varia... OMIM:611881
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Aplasia of the left hemidiaphragm, Ventric... OMIM:618901
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter OMIM:619173
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acroosteolysis of distal phalanges... ORPHA:280365
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter, Poor head control OMIM:615595
Myasthenia, Limb-Girdle, Autoimmune
Ophthalmoparesis, Fatigable weakness, Proximal amyotrophy, Type 2 muscle fiber atrophy, Mildly el... OMIM:159400
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Distal amyotrophy, Elevated circulating creatine ... OMIM:617675
Marden-Walker Syndrome
Skeletal muscle atrophy, Ventricular septal defect, Camptodactyly of finger, Dextrocardia, Arachn... ORPHA:2461
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Adducted thumb, Elevated circulating creatine kinase concentration, Muscular dystrophy OMIM:614643
Native American Myopathy
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Congenital contracture, Talip... ORPHA:168572
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Overlapping fingers, Cardiomegaly, Femo... OMIM:617022
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Neu-Laxova Syndrome
Skeletal muscle atrophy, Micromelia, Flexion contracture, Large hands, Muscular dystrophy, Aplasi... ORPHA:2671
Epidermolysis Bullosa Simplex With Pyloric Atresia
Flexion contracture, Elevated circulating creatine kinase concentration, Muscular dystrophy ORPHA:158684
Ferguson-Bonni Neurodevelopmental Syndrome
Patent foramen ovale, Coronary-pulmonary artery fistula, Congenital diaphragmatic hernia OMIM:619699
Serkal Syndrome
Pulmonic stenosis, Ventricular septal defect, Congenital diaphragmatic hernia ORPHA:139466
Isolated Anencephaly
Congenital diaphragmatic hernia ORPHA:563609
Paramyotonia Congenita Of Von Eulenburg
Facial muscle hypertrophy, Cold paresis, EMG: myopathic abnormalities, Abnormal blood potassium c... ORPHA:684
Jansen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic hernia, Small hand, Short... OMIM:617450
Craniofrontonasal Dysplasia
Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Congenital diaphrag... ORPHA:1520
Tonne-Kalscheuer Syndrome
Brachydactyly, Broad thumb, Congenital diaphragmatic hernia, Abnormal heart morphology OMIM:300978
Lethal Congenital Contracture Syndrome 9
Elbow extension contracture, Ulnar deviation of the hand, Centrally nucleated skeletal muscle fib... OMIM:616503
Glycerol Kinase Deficiency
Myopathy, Hypertriglyceridemia, Muscular dystrophy, Hyperglycerolemia OMIM:307030
Donnai-Barrow Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia ORPHA:2143
Polymyositis
Pericarditis, Elevated circulating creatine kinase concentration, Abnormal muscle fiber morpholog... ORPHA:732
Cooper-Jabs Syndrome
Proximal placement of thumb, Ventricular septal defect, Camptodactyly of finger, Congenital diaph... ORPHA:1488
Coffin-Siris Syndrome 3
Macroglossia, Central diaphragmatic hernia, Short distal phalanx of the 5th finger, Abnormal hear... OMIM:614608
Schisis Association
Congenital diaphragmatic hernia, Micromelia ORPHA:63862
Gillessen-Kaesbach-Nishimura Syndrome
Ulnar deviation of the hand, Congenital diaphragmatic hernia, Metaphyseal widening, Flexion contr... OMIM:263210
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Congenital diaphragmatic hernia, Obesity, Abnormal heart morphology, Choreoathetosi... ORPHA:261197
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion contracture, Bilatera... OMIM:618022
15Q24 Microdeletion Syndrome
Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thumb morphology, Abnormal... ORPHA:94065
Xp22.13P22.2 Duplication Syndrome
Small hand, 2-3 toe syndactyly, Congenital diaphragmatic hernia, Tapered finger ORPHA:284180
Neuromuscular Oculoauditory Syndrome
Poor head control, Elevated circulating creatine kinase concentration, Knee flexion contracture, ... OMIM:618733
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Skeletal muscle hypertrophy, Hyper... OMIM:151660
Cebalid Syndrome
Congenital diaphragmatic hernia OMIM:618774
8P23.1 Microdeletion Syndrome
Broad hallux phalanx, Congenital diaphragmatic hernia, Proximal placement of thumb, Tapered finge... ORPHA:251071
Schwartz-Jampel Syndrome
Hip contracture, Skeletal muscle atrophy, Bowing of the long bones, Shoulder flexion contracture,... ORPHA:800
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morphology, Ophthalmoparesis, Clinod... ORPHA:3068
Proximal 16P11.2 Microduplication Syndrome
Arachnodactyly, Congenital diaphragmatic hernia ORPHA:370079
Zaki Syndrome
Toe syndactyly, Congenital diaphragmatic hernia, Long fingers, Patent ductus arteriosus, Ectrodac... OMIM:619648
Mosaic Variegated Aneuploidy Syndrome
Rhabdomyosarcoma, Clinodactyly of the 5th finger, Muscular dystrophy, Subvalvular aortic stenosis... ORPHA:1052
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Skeletal muscle hypertrophy OMIM:619714
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Generalized muscle weakness, Elevated circulating creatine kinase concentration, Muscle weakness,... OMIM:253280
Myhre Syndrome
Skeletal muscle hypertrophy, Abnormal cardiac septum morphology, Short palm, Abnormal metaphysis ... ORPHA:2588
Myhre Syndrome
Ventricular septal defect, Overlapping toe, Pericardial effusion, Patent ductus arteriosus, Gener... OMIM:139210
13Q12.3 Microdeletion Syndrome
Hemihypotrophy of lower limb, Congenital diaphragmatic hernia, Camptodactyly ORPHA:412035
Genitopalatocardiac Syndrome
Postaxial hand polydactyly, Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, ... ORPHA:2075
Czeizel-Losonci Syndrome
Posterolateral diaphragmatic hernia, Hitchhiker thumb, Dextrocardia, 2-3 finger syndactyly, Clubb... ORPHA:2437
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Methylmalonic acidemia, Skeletal muscle atrophy, Short humerus, Short femur, Patent ductus arteri... ORPHA:17
Pentalogy Of Cantrell
Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmatic hernia, Abno... ORPHA:1335
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Congenital diaphragmatic hernia ORPHA:2063
Non-Syndromic Posterior Hypospadias
Congenital diaphragmatic hernia ORPHA:95706
Fetal Alcohol Syndrome
Atrial septal defect, Congenital diaphragmatic hernia ORPHA:1915
Meacham Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Patent ductus... ORPHA:3097
Primary Triglyceride Deposit Cardiomyovasculopathy
Elevated circulating creatine kinase concentration, Hyperlipidemia, Increased muscle lipid conten... ORPHA:565612
1Q41Q42 Microdeletion Syndrome
Talipes equinovarus, Congenital diaphragmatic hernia ORPHA:250999
Halperin-Birk Syndrome
Congenital diaphragmatic hernia, Inability to walk, Flexion contracture, Perimembranous ventricul... OMIM:618651
Trisomy 1Q
Toe syndactyly, Arachnodactyly, Ventricular septal defect, Camptodactyly of finger, Congenital di... ORPHA:261344
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Congenital diaphragmatic hernia OMIM:606164
Emanuel Syndrome
Torticollis, Truncus arteriosus, Ventricular septal defect, Congenital diaphragmatic hernia, Pate... OMIM:609029
Seckel Syndrome 9
Atrial septal defect, Ventricular septal defect, Talipes equinovarus, Congenital diaphragmatic he... OMIM:616777
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Elevated circulating creatine kinase concentration, Muscular dystrophy OMIM:615287
Thoracoabdominal Syndrome
Patent ductus arteriosus, Transposition of the great arteries, Congenital diaphragmatic hernia, E... OMIM:313850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Congenital contracture, Congenital muscular dystrophy, Elevated circulating creatine kinase conce... OMIM:236670
Adult-Onset Cervical Dystonia, Dyt23 Type
Torticollis, Neck muscle hypertrophy ORPHA:420492
Intellectual Disability-Strabismus Syndrome
Failure to thrive, Congenital diaphragmatic hernia, Achilles tendon contracture, Gait disturbance... ORPHA:363528
Diamond-Blackfan Anemia 10
Patent ductus arteriosus, Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni di... OMIM:613309
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Abnormal muscle fiber morphology, Rhabdomyolysi... ORPHA:79102
Mosaic Trisomy 1
Long toe, Broad toe, Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Congenit... ORPHA:1692
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the distal phalanges of... ORPHA:1647
Microphthalmia, Syndromic 9
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Hypoplastic... OMIM:601186
Chromosome 1Q41-Q42 Deletion Syndrome
Sandal gap, Ventricular septal defect, Congenital diaphragmatic hernia, 3-4 finger cutaneous synd... OMIM:612530
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Atrial septal defect, Paten... OMIM:245600
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Anomalous pulmonary venous return, Camptodactyly of finger, Congenital diaphra... ORPHA:2311
2Q37 Microdeletion Syndrome
Finger syndactyly, Short metacarpal, Toe syndactyly, Congenital diaphragmatic hernia, Small hand,... ORPHA:1001
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Arachnodactyly, Congenital diaphragmatic hernia, Sandal gap, Clinodact... OMIM:617602
Chromosome 15Q25 Deletion Syndrome
Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Long fingers, Coronary ... OMIM:614294
Donnai-Barrow Syndrome
Diaphragmatic eventration, Ventricular septal defect, Congenital diaphragmatic hernia OMIM:222448
Emanuel Syndrome
Multiple joint contractures, Truncus arteriosus, Ventricular septal defect, Congenital diaphragma... ORPHA:96170
Thakker-Donnai Syndrome
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Congenital d... ORPHA:1780
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Congenital diaphragmatic hernia OMIM:611812
Lowry-Maclean Syndrome
Atrioventricular canal defect, Congenital diaphragmatic hernia ORPHA:2409
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Congenital diaphragmatic hernia, Split hand, Hypoplasi... ORPHA:958
Heart Defects, Congenital, And Other Congenital Anomalies
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Congenital diaphragma... OMIM:600001
Craniorachischisis
Congenital diaphragmatic hernia, Sirenomelia ORPHA:63260
Oligomeganephronia
Small for gestational age, Congenital diaphragmatic hernia, Secundum atrial septal defect, Elevat... ORPHA:2260
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia,... OMIM:618280
Cutis Laxa, Autosomal Recessive, Type Ia
Arachnodactyly, Congenital diaphragmatic hernia OMIM:219100
Matthew-Wood Syndrome
Congenital diaphragmatic hernia ORPHA:2470
Vacterl/Vater Association
Finger syndactyly, Congenital diaphragmatic hernia, Preaxial hand polydactyly, Aplasia/Hypoplasia... ORPHA:887
White-Sutton Syndrome
Waddling gait, Facial hypotonia, Congenital diaphragmatic hernia, Obesity, Atrial septal defect, ... OMIM:616364
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia ORPHA:1834
Arterial Tortuosity Syndrome
Ventricular hypertrophy, Aortic regurgitation, Congenital diaphragmatic hernia, Flexion contractu... OMIM:208050
Focal Dermal Hypoplasia
Finger syndactyly, Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Diastasis ... ORPHA:2092
Multiple Pterygium Syndrome, Escobar Variant
Syndactyly, Multiple joint contractures, Arachnodactyly, Rocker bottom foot, Congenital diaphragm... OMIM:265000
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Foot polydactyly, Congenital diaphragmatic hernia, Short palm ORPHA:268249
Distal Deletion 15Q
Bicuspid aortic valve, Mitral atresia, Congenital diaphragmatic hernia, Double outlet right ventr... ORPHA:1596
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Small for gestational... ORPHA:2255
Acrofacial Dysostosis 1, Nager Type
Hallux valgus, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Ventricular septal defect, Broad ... OMIM:154400
Fryns Syndrome
Congenital diaphragmatic hernia, Abnormal cardiac septum morphology, Clinodactyly of the 5th fing... ORPHA:2059
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Postaxial polydactyly, Congenital diaphragmatic hernia, Micromelia, Preaxial polydactyly, Atrial ... OMIM:616546
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Atrial septal defect, Patent ductus arteriosus, Congenital diaphragmatic hernia, Short distal pha... OMIM:614080
Mullegama-Klein-Martinez Syndrome
Facial palsy, Congenital diaphragmatic hernia, Unsteady gait, Hypoplastic left heart, Apical musc... OMIM:301022
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Atrial septal defec... OMIM:309801
Limb Body Wall Complex
Duplication of hand bones, Ventricular septal defect, Diastasis recti, Congenital diaphragmatic h... ORPHA:2369
White-Sutton Syndrome
Facial hypotonia, Congenital diaphragmatic hernia, Abnormal heart morphology ORPHA:468678
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Dextrocardia, Congenital diaphragmatic hernia... ORPHA:2911
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Toe syndactyly, Congenital diaphragmatic hernia, Split hand, Elbow flexio... OMIM:200980
Developmental Delay With Or Without Dysmorphic Facies And Autism
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, 2-3 toe cut... OMIM:618454
Craniofrontonasal Syndrome
Toe syndactyly, Broad hallux, Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, 3-... OMIM:304110
Aymé-Gripp Syndrome
Pericarditis, Rocker bottom foot, Congenital diaphragmatic hernia, Tapered finger, Pericardial ef... ORPHA:1272
Denys-Drash Syndrome
Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia OMIM:194080
Wiedemann-Rautenstrauch Syndrome
Long toe, Short humerus, Hypertriglyceridemia, Thin long bone diaphyses, Camptodactyly of finger,... ORPHA:3455
Pseudoaminopterin Syndrome
Posterolateral diaphragmatic hernia, Brachydactyly, Overlapping toe, Postaxial polydactyly, Short... ORPHA:221120
7Q11.23 Microduplication Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Unsteady gait, Obesity, Dysmetria, At... ORPHA:96121
Trisomy 18
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Postaxial ha... ORPHA:3380
Simpson-Golabi-Behmel Syndrome
Finger syndactyly, Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Congenital... ORPHA:373
Parkes Weber Syndrome
Abnormal femoral metaphysis morphology, Muscle hypertrophy of the lower extremities, Lower limb m... ORPHA:90307
Perlman Syndrome
Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic hernia OMIM:267000
Holoprosencephaly
Hyponatremia, Ventricular septal defect, Abnormal pulmonary valve morphology, Congenital diaphrag... ORPHA:2162
Opitz Gbbb Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal he... ORPHA:2745
Cornelia De Lange Syndrome 1
Ventricular septal defect, Congenital diaphragmatic hernia, Micromelia, Proximal placement of thu... OMIM:122470
Pagod Syndrome
Situs inversus totalis, Hypoplastic left heart, Congenital diaphragmatic hernia ORPHA:991
Diets-Jongmans Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia OMIM:618846
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Ventricular septal defect, Broad hallux, Congenital diaphragmatic hernia, Tapered finger, 1-2 toe... OMIM:301044
Mowat-Wilson Syndrome
Ventricular septal defect, Patent ductus arteriosus, Generalized muscle hypertrophy, Abnormal hea... OMIM:235730
Hydrolethalus Syndrome 1
Ventricular septal defect, Preaxial hand polydactyly, Complete atrioventricular canal defect, Pos... OMIM:236680
Smith-Lemli-Opitz Syndrome
Finger syndactyly, Ventricular septal defect, Rhizomelia, Congenital diaphragmatic hernia, Proxim... ORPHA:818
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Sandal gap, Morgagni diaphragmatic hernia, Patent foramen ov... OMIM:613177
Iniencephaly
Rhizomelia, Rocker bottom foot, Congenital diaphragmatic hernia, Talipes equinovarus, Arthrogrypo... ORPHA:63259
Wolf-Hirschhorn Syndrome
Abnormal heart valve morphology, Arachnodactyly, Short hallux, Congenital diaphragmatic hernia, S... ORPHA:280
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Congenital diaphragmatic hernia, Abnormal heart morphology OMIM:617641
Kabuki Syndrome
Congenital diaphragmatic hernia, Small hand, Abnormal cardiac septum morphology, Short middle pha... ORPHA:2322
Cardiospondylocarpofacial Syndrome
Carpal synostosis, Ventricular septal defect, Tarsal synostosis, Congenital diaphragmatic hernia,... OMIM:157800
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid regurgitation, Congenital diaphragmatic hernia, Dilated cardiomyopathy, Mitral valve pr... ORPHA:2556
Monosomy 9P
Abnormality of the tarsal bones, Postaxial hand polydactyly, Proximal placement of thumb, Congeni... ORPHA:261112
Lambert-Eaton Myasthenic Syndrome
Progressive proximal muscle weakness ORPHA:43393
Beckwith-Wiedemann Syndrome
Diastasis recti, Rhabdomyosarcoma, Congenital diaphragmatic hernia, Elevated circulating alpha-fe... ORPHA:116
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Short palm, Atrial septal defect, Patent ductus arteriosus, Card... OMIM:312870
C Syndrome
Toe syndactyly, Congenital diaphragmatic hernia, Micromelia, Aplasia/Hypoplasia of the abdominal ... ORPHA:1308
Tetraamelia Syndrome 1
Congenital diaphragmatic hernia OMIM:273395
Cutis Laxa, Autosomal Recessive, Type Ib
Arachnodactyly, Congenital diaphragmatic hernia OMIM:614437
Coffin-Siris Syndrome 1
Prominent fingertip pads, Ventricular septal defect, Sandal gap, Congenital diaphragmatic hernia,... OMIM:135900
Focal Dermal Hypoplasia
Short metacarpal, Toe syndactyly, Diastasis recti, Congenital diaphragmatic hernia, Postaxial han... OMIM:305600
45,X/46,Xy Mixed Gonadal Dysgenesis
Hallux valgus, Bicuspid aortic valve, Short metatarsal, Short 4th metacarpal, Muscle hypertrophy ... ORPHA:1772
Cornelia De Lange Syndrome
Toe syndactyly, Ventricular septal defect, Abnormal morphology of ulna, Congenital diaphragmatic ... ORPHA:199
Witteveen-Kolk Syndrome
Toe syndactyly, Overlapping toe, Arachnodactyly, Congenital diaphragmatic hernia, Proximal placem... OMIM:613406
Pallister-Killian Syndrome
Ventricular septal defect, Rhizomelia, Congenital diaphragmatic hernia, Mesomelic/rhizomelic limb... OMIM:601803

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 Sgcg

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 Sgcg.

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

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