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Gene: Dnajb4 MGI:1914285

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Gene Summary

Name:
DnaJ heat shock protein family (Hsp40) member B4
Synonyms:
1700029A20Rik,  5730460G06Rik,  2010306G19Rik

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IMPC Data Collections

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.

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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.

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Auditory Brain Stem Response

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

8 Images

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Human diseases caused by Dnajb4 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 Dnajb4 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Congenital Myopathy 21 With Early Respiratory Failure
EMG: myopathic abnormalities, Diaphragmatic weakness OMIM:620326

The table below shows human diseases predicted to be associated to Dnajb4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Polyglucosan Body Myopathy 2
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Distal muscle ... OMIM:616199
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Distal muscle weakness, Proxima... OMIM:618655
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 5
Distal muscle weakness, Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Fir... OMIM:600794
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
Myopathy, Vacuolar, With Casq1 Aggregates
Muscle weakness, Muscle fiber calsequestrin 1-containing inclusion bodies, Proximal muscle weakness OMIM:616231
Welander Distal Myopathy
Distal amyotrophy, Distal muscle weakness, Rimmed vacuoles OMIM:604454
Nonaka Myopathy
Distal muscle weakness, Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle... OMIM:605820
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Miyoshi Myopathy
Distal lower limb amyotrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, Respira... ORPHA:45448
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Proximal muscle weakness, Quadriceps m... ORPHA:611
Myopathy, Distal, 5
Myopathy, Distal amyotrophy, Distal upper limb muscle weakness, Muscle fiber splitting, Weakness ... OMIM:617030
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness, Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal... OMIM:618848
Charcot-Marie-Tooth Disease, Axonal, Type 2D
Distal muscle weakness, Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Fir... OMIM:601472
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 4
Distal lower limb amyotrophy, Hand muscle weakness, Intrinsic hand muscle atrophy, Distal upper l... OMIM:613376
Spinal Muscular Atrophy, Scapuloperoneal
Scapular muscle atrophy, Spinal muscular atrophy, Peroneal muscle atrophy OMIM:271220
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 5
Distal lower limb amyotrophy, Distal muscle weakness, Spinal muscular atrophy, Foot dorsiflexor w... OMIM:614881
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Foot dorsiflexor weakness, Peroneal muscle atrophy, Scapuloperoneal weakness, Z-band streaming, W... OMIM:181400
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6
Scapular winging, Facial palsy, Generalized limb muscle atrophy, Proximal upper limb amyotrophy, ... ORPHA:219
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 8
Gowers sign, Calf muscle hypertrophy, Distal amyotrophy, Proximal muscle weakness OMIM:618135
Spastic Paraplegia 77, Autosomal Recessive
Upper limb muscle weakness, Lower limb amyotrophy, Lower limb muscle weakness OMIM:617046
Myopathy, Sarcoplasmic Body
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency du... OMIM:620286
Charcot-Marie-Tooth Disease, Axonal, Type 2Dd
Distal amyotrophy, Distal muscle weakness, Foot dorsiflexor weakness OMIM:618036
Inclusion Body Myositis
Inflammatory myopathy, Distal muscle weakness, Proximal muscle weakness, Rimmed vacuoles OMIM:147421
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Muscular Atrophy, Malignant Neurogenic
Skeletal muscle atrophy, Respiratory paralysis OMIM:158650
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy
Distal lower limb amyotrophy, Quadriceps muscle atrophy, Quadriceps muscle weakness, Upper limb a... ORPHA:482601
Neuronopathy, Distal Hereditary Motor, X-Linked
Distal amyotrophy, Distal muscle weakness, Spinal muscular atrophy OMIM:300489
Oculopharyngodistal Myopathy 2
Bulbar palsy, Distal muscle weakness, Fatty replacement of skeletal muscle, External ophthalmople... OMIM:618940
Myasthenic Syndrome, Congenital, 17
Muscle weakness, Type 1 muscle fiber predominance OMIM:616304
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 9
Distal lower limb amyotrophy, Distal upper limb muscle weakness, Distal upper limb amyotrophy, Di... OMIM:617721
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Scapular winging, Proximal muscle weakness, Angulated muscle fibers, Shoulder girdle muscle weakn... OMIM:619477
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... 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 Dominant 3
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... OMIM:609115
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Neck flexor weakness, Dista... ORPHA:178464
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Gowers sign, Increase... OMIM:613204
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Distal muscle weakness, Distal amyotrophy, Type 1 muscle fiber predominance, Inc... OMIM:619042
Charcot-Marie-Tooth Disease, Axonal, Type 2T
Distal lower limb amyotrophy, Distal lower limb muscle weakness, Foot dorsiflexor weakness OMIM:617017
Charcot-Marie-Tooth Disease, Axonal, Type 2Q
Skeletal muscle atrophy, Distal lower limb muscle weakness OMIM:615025
Myopathy, Myofibrillar, 3
Progressive distal muscle weakness, Proximal muscle weakness, Achilles tendon contracture, Distal... OMIM:609200
Spastic Paraplegia 38, Autosomal Dominant
Distal muscle weakness, Thenar muscle atrophy, Thenar muscle weakness, First dorsal interossei mu... OMIM:612335
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal amyotrophy, Distal muscle weakness, Fiber type grouping OMIM:614369
Spastic Paraplegia 42, Autosomal Dominant
Skeletal muscle atrophy, Muscle weakness OMIM:612539
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Fatiguable weakness of proximal limb muscles, Muscle ... ORPHA:2593
Nemaline Myopathy 6
Skeletal muscle atrophy, Neck flexor weakness, Myopathy, Limb muscle weakness, Nemaline bodies OMIM:609273
Spinal Muscular Atrophy, Facioscapulohumeral Type
Skeletal muscle atrophy, Spinal muscular atrophy OMIM:182970
Charcot-Marie-Tooth Disease, Axonal, Type 2U
Hand muscle atrophy, Distal muscle weakness, Hand muscle weakness, Distal amyotrophy, Foot dorsif... OMIM:616280
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... OMIM:271150
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Neck flexor weakness, Facial palsy, ... OMIM:254110
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Distal muscle weakness, Proximal muscle weakness, Fatty replacement of s... OMIM:608807
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Progressive distal muscle weakness, Respirato... ORPHA:399058
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Abdominal wall muscle weakness, Centrally nucleated skeletal muscl... OMIM:615424
Mitochondrial Myopathy With Diabetes
Facial palsy, Proximal muscle weakness, Ragged-red muscle fibers, Limb muscle weakness, Proximal ... OMIM:500002
Myopathy, Distal, 4
Distal lower limb amyotrophy, Skeletal muscle atrophy, Proximal muscle weakness, Thenar muscle we... OMIM:614065
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Proximal muscle weakness, Muscle fiber cytoplasmatic inclusion bodies, Mus... OMIM:609524
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Distal muscle weakness, Autophagic vacuoles, Facial hypotonia, Proximal muscle weakness, Fatty re... ORPHA:266
Rhabdomyolysis, Susceptibility To, 1
Distal muscle weakness, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Type 2 muscle... OMIM:620235
Lethal Congenital Contracture Syndrome 4
Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture, Distal arthrogryposis OMIM:614915
Muscular Dystrophy, Hemizygous Lethal Type
Limb-girdle muscular dystrophy OMIM:309950
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Gowers sign, Increased variability in muscle fiber diameter, Proximal mu... OMIM:611615
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy, Muscle weakness OMIM:159050
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Distal muscle weakness, Spinal muscular atrophy, Proximal muscle weakness, Proximal amyotrophy, D... OMIM:182980
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Poor head control, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Fl... OMIM:300717
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Neck flexor weakness, Facial pals... OMIM:616852
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... ORPHA:603
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Hand muscle atrophy, Distal muscle weakness, Hand muscle weakness, Distal amyotrophy, Weakness of... OMIM:607641
Charcot-Marie-Tooth Disease, Axonal, Type 2W
Distal amyotrophy, Distal muscle weakness OMIM:616625
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, G... OMIM:117000
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 1
Upper limb muscle weakness, Distal amyotrophy, Distal muscle weakness OMIM:182960
Miyoshi Muscular Dystrophy 1
Distal muscle weakness, Distal amyotrophy, Muscular dystrophy, Lower limb muscle weakness, Deposi... OMIM:254130
Amyotrophic Lateral Sclerosis Type 4
Skeletal muscle atrophy, Distal muscle weakness ORPHA:357043
Moderate Multiminicore Disease With Hand Involvement
Facial palsy, Generalized muscle weakness, Intrinsic hand muscle atrophy, Axial muscle weakness, ... ORPHA:178145
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Distal muscle weakness, Ankle flexion contracture, Centrally nucleated s... OMIM:617760
Myasthenic Syndrome, Congenital, 13
Fatigable weakness, Muscle fiber tubular inclusions, Proximal muscle weakness OMIM:614750
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Abdominal wall muscle weakness, Centrally nucleated skeletal muscle fibers, Fat... OMIM:618129
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Neck flexor weakness, Facial p... OMIM:616209
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Neck flexor weakness, Elbow contracture, Ankle contracture, Proximal muscle weak... OMIM:620386
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Proximal muscle weakness, Limb-girdle muscle weaknes... OMIM:608099
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Skeletal muscle atrophy, Proximal muscle weakness, Muscular dystrophy, Increased variability in m... OMIM:253601
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Generalized muscle weakne... ORPHA:34516
Myasthenic Syndrome, Congenital, 12
Facial palsy, Proximal muscle weakness, Gowers sign, Ragged-red muscle fibers, Proximal amyotroph... OMIM:610542
Spastic Paraplegia 73, Autosomal Dominant
Skeletal muscle atrophy, Proximal muscle weakness OMIM:616282
Muscular Dystrophy, Limb-Girdle, Type 1H
Proximal muscle weakness, Centrally nucleated skeletal muscle fibers, Calf muscle hypertrophy, Mu... OMIM:613530
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Scapular winging, Abdominal wall muscle weakness, Centra... OMIM:619733
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Neck flexor weakness, Ragged-red muscle fibers, Proximal... ORPHA:457050
Facial Onset Sensory And Motor Neuronopathy
Skeletal muscle atrophy, Muscle weakness ORPHA:85162
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Proximal muscle weakness, Gowers sign, Myopathy, Limb-girdle muscular dystrophy, Increased variab... OMIM:612937
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Distal lower limb amyotrophy, Distal muscle weakness ORPHA:73245
Bethlem Myopathy 1
Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Distal muscle weakness, Ca... OMIM:158810
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Distal muscle weakness, Proximal muscle weakness, In... OMIM:618654
Zebra Body Myopathy
Torticollis, Distal muscle weakness, Autophagic vacuoles, Facial palsy, Proximal muscle weakness,... ORPHA:97240
Myopathy, Distal, Tateyama Type
Neck flexor weakness, Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic... OMIM:614321
Spinal Muscular Atrophy With Microcephaly And Mental Subnormality
Proximal spinal muscular atrophy OMIM:271110
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur... OMIM:620068
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Progressive external ophthalmoplegia, Facial palsy, Ragged-red muscle fibers, Generalized muscle ... OMIM:609283
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3
Spinal muscular atrophy, Diaphragmatic weakness, Distal amyotrophy, Distal lower limb muscle weak... OMIM:607088
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Gowers sign, Z-band streami... OMIM:619178
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Scapular winging, Distal muscle weakness, Neck flexor weakness, Centrally nucleated skeletal musc... OMIM:601846
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Proximal muscle weakness, Proximal amyotrophy, Muscular dystrophy, Neck ... OMIM:614302
Congenital Myopathy 6 With Ophthalmoplegia
Scapular winging, Muscle fiber inclusion bodies, Distal muscle weakness, Proximal muscle weakness... OMIM:605637
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Lethal Congenital Contracture Syndrome 3
Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex congenita OMIM:611369
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Scapular winging, Progressive external ophthalmoplegia, Proximal muscle ... OMIM:617069
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Upper limb muscle weakness, Distal amyotrophy, Distal muscle weakness, Foot dorsiflexor weakness OMIM:607678
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Calf muscle pseudohypertrophy, Scapular winging, Neck flexor weakness, Centrally nucleated skelet... OMIM:608358
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Poor head control, Facial palsy, Ophthalmoplegia, Flexion contracture, K... OMIM:616313
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Progressive distal muscle weakness, Increased variability in muscl... ORPHA:488650
Distal Nebulin Myopathy
Neck flexor weakness, Progressive distal muscle weakness, Ankle flexion contracture, Fatty replac... ORPHA:399103
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Scapular winging, Distal muscle weakness, Autophagic vacuoles, Centrally nucleated skeletal muscl... OMIM:608423
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Upper limb muscle weakness, Distal amyotrophy, Distal muscle weakness, Foot dorsiflexor weakness OMIM:302801
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Distal lower limb amyotrophy, Distal upper limb muscle weakness, Distal upper limb amyotrophy, Di... OMIM:619764
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Lower limb muscle weakness, Spinal muscular atrophy, Proximal muscle weakness, Weakness of the in... OMIM:615575
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Distal amyotrophy, Distal muscle weakness OMIM:605589
Bethlem Myopathy 2
Scapular winging, Proximal muscle weakness, Flexion contracture, Myopathy, Increased variability ... OMIM:616471
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Calf muscle pseudohypertrophy, Reduced muscle fiber alpha dystroglycan, Ankle flexion contracture... ORPHA:280333
Congenital Myopathy 18
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Ophthalmoplegia... OMIM:620246
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Proximal ... OMIM:612999
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle atrophy, Scapular winging, Proximal muscle weakness, Scapuloperoneal weakness, Ac... OMIM:300696
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Distal lower limb amyotrophy, Weak grip, Distal amyotrophy, Distal upper limb amyotrophy, Wrist d... OMIM:619519
Glycogen Storage Disease Ixd
Skeletal muscle atrophy, Distal muscle weakness, Glycogen accumulation in muscle fiber lysosomes,... OMIM:300559
Myopathy, Tubular Aggregate, 1
Proximal muscle weakness, External ophthalmoplegia, Flexion contracture, Type 2 muscle fiber atro... OMIM:160565
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Neck flexor weakness, Proximal muscle weakness, Quadriceps muscle weakness, Ach... OMIM:603689
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Skeletal muscle atrophy OMIM:158500
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Distal muscle weakness, Proximal muscle weakness, Proximal amyotrophy, Distal amyotrophy, Foot do... OMIM:616040
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles OMIM:609500
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Ophthalmoplegia, Ragged-red muscle fibers, Myopathy, Rimmed vac... ORPHA:270
Congenital Myopathy 14
Hip contracture, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Flex... OMIM:618414
Distal Hereditary Motor Neuropathy Type 5
Thenar muscle atrophy, Thenar muscle weakness, First dorsal interossei muscle weakness, Upper lim... ORPHA:139536
Spinal Muscular Atrophy, Jokela Type
Calf muscle hypertrophy, Skeletal muscle atrophy, Spinal muscular atrophy, Muscle weakness OMIM:615048
Myopathy, Distal, 3
Distal muscle weakness, Distal amyotrophy, Muscular dystrophy, Late-onset proximal muscle weaknes... OMIM:610099
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... OMIM:160150
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Congenital Myopathy 23
Skeletal muscle atrophy, Scapular winging, Gowers sign, Flexion contracture, Facial diplegia, Nec... OMIM:609285
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Distal lower limb amyotrophy, Skeletal muscle atrophy, Distal muscle weakness, Lower limb muscle ... OMIM:613287
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Spastic Paraplegia 57, Autosomal Recessive
Hand muscle atrophy, Lower limb amyotrophy, Muscle weakness OMIM:615658
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A... OMIM:619566
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Flexion contracture, ... OMIM:300718
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Proximal muscle weakness, Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy,... OMIM:616924
Spastic Paraplegia 43, Autosomal Recessive
Distal amyotrophy, Muscle weakness, Ankle flexion contracture, Knee flexion contracture OMIM:615043
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Skeletal muscle atrophy, Flexion contracture, Muscle weakness OMIM:611105
Myopathy, Centronuclear, 4
Muscle weakness, Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers OMIM:614807
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Upper limb muscle weakness, Distal amyotrophy, Distal muscle weakness OMIM:607677
Myopathy, Distal, 1
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Distal muscle weakness, Facial palsy, ... OMIM:160500
Distal Myotilinopathy
Multiple joint contractures, Progressive distal muscle weakness, Progressive proximal muscle weak... ORPHA:98911
Myasthenic Syndrome, Congenital, 14
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Gowers... OMIM:616228
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Progressive distal muscle weakness, Progressive muscle weakness, Progressive... OMIM:609452
Congenital Myopathy 4B, Autosomal Recessive
Distal lower limb amyotrophy, Proximal muscle weakness, Flexion contracture, Generalized muscle w... OMIM:609284
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13
Distal lower limb amyotrophy, Distal lower limb muscle weakness, Thenar muscle atrophy OMIM:619112
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia OMIM:226735
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Skeletal muscle atrophy, Proximal muscle weakness, Gowers sign, Flexion contracture, Generalized ... OMIM:613723
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Distal amyotrophy, Distal muscle weakness OMIM:158580
Muscular Dystrophy, Congenital, 1B
Facial palsy, Gowers sign, Achilles tendon contracture, Generalized muscle hypertrophy, Diaphragm... OMIM:604801
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Hypoglycosylation of alpha-dystroglycan, Scapular winging, Macroglossia, Calf muscle hypertrophy,... OMIM:616052
Spinal Muscular Atrophy, Type Iii
Pelvic girdle amyotrophy, Spinal muscular atrophy, Proximal muscle weakness, Distal amyotrophy, S... OMIM:253400
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Distal amyotrophy, Distal muscle weakness, Foot dorsiflexor weakness OMIM:607731
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7
Proximal muscle weakness in upper limbs, Scapular winging, Flexion contracture, Proximal muscle w... OMIM:619216
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Distal muscle weakness, Claw hand deformity, Spinal muscular atrophy, Distal amyotrophy, Foot dor... OMIM:605726
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Proximal muscle weakness, Gowers sign, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Musc... OMIM:613157
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Upper limb muscle weakness, Lower limb amyotrophy, Claw hand deformity, Lower limb muscle weakness OMIM:618511
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Distal muscle weakness, Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated s... OMIM:617072
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Pr... OMIM:620138
Myosclerosis, Autosomal Recessive
Skeletal muscle atrophy, Distal muscle weakness, Facial palsy, Proximal muscle weakness, Neck joi... OMIM:255600
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Distal muscle weakness, Proximal m... OMIM:617070
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Ophthalmoplegia, Increased variability in muscle fib... OMIM:619473
Nemaline Myopathy 10
Skeletal muscle atrophy, Bulbar palsy, Facial palsy, Fatty replacement of skeletal muscle, Respir... OMIM:616165
Spastic Paraplegia 31, Autosomal Dominant
Skeletal muscle atrophy, Distal amyotrophy, Lower limb muscle weakness OMIM:610250
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Skeletal muscle atrophy, Congenital contracture, Arthrogryposis multiplex congenita, Myopathy OMIM:208100
Spinal Muscular Atrophy With Mental Retardation
Spinal muscular atrophy OMIM:271109
Finnish Upper Limb-Onset Distal Myopathy
Progressive distal muscle weakness, Fatty replacement of skeletal muscle, Progressive proximal mu... ORPHA:399086
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Neck flexor... OMIM:618138
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Bulbar palsy, Facial palsy, Gowers sign, Flexion contracture, Shoulder girdle muscle weakness, Mu... OMIM:603511
Myopathy, Myofibrillar, 2
Distal muscle weakness, Respiratory insufficiency due to muscle weakness, Limb-girdle muscle weak... OMIM:608810
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia OMIM:306950
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Distal muscle weakness, Abnormal muscle fiber morphology... ORPHA:598
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Distal amyotrophy, Distal muscle weakness OMIM:608673
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Neck muscle weakness, Muscular dystrophy, Proximal muscle weakness, Proximal amyotrophy OMIM:612998
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Poor head control, Nemaline bodies, Generalized muscle weakness, Increased variability in muscle ... OMIM:620265
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Upper limb muscle weakness, Distal amyotrophy, Distal muscle weakness, Hand muscle weakness OMIM:608323
Spinal Muscular Atrophy, Type Ii
Skeletal muscle atrophy, Spinal muscular atrophy, Muscle weakness OMIM:253550
Mitochondrial Myopathy, Infantile, Transient
Facial palsy, Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Increas... OMIM:500009
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Upper limb muscle weakness, Distal amyotrophy, Distal muscle weakness OMIM:607791
Distal Anoctaminopathy
Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Peroneal muscle atrophy, ... ORPHA:399096
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Scapular winging, Proximal muscle weakness, Gowers sign, Proximal amyotrophy, Calf muscle hypertr... OMIM:601287
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Distal muscle wea... OMIM:600175
Amish Nemaline Myopathy
Hip contracture, Shoulder flexion contracture, Respiratory insufficiency due to muscle weakness, ... ORPHA:98902
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Increased intramuscular fat, I... ORPHA:276435
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers OMIM:618992
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Gowers sign, Flexion contracture, Muscle ... OMIM:253700
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... OMIM:604286
Autosomal Recessive Spastic Paraplegia Type 63
Skeletal muscle atrophy ORPHA:401805
Nemaline Myopathy 5C, Autosomal Dominant
Skeletal muscle atrophy, Scapular winging, Poor head control, Proximal muscle weakness, Quadricep... OMIM:620389
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Skeletal muscle atrophy, Distal muscle weakness OMIM:205250
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Distal lower limb amyotrophy, Distal muscle weakness, Congenital foot contraction deformities, Ha... ORPHA:363454
Scapuloperoneal Myopathy, X-Linked Dominant
Skeletal muscle atrophy, Scapular winging, Proximal muscle weakness, Achilles tendon contracture,... OMIM:300695
Oculopharyngodistal Myopathy 4
Distal muscle weakness, Autophagic vacuoles, Fatty replacement of skeletal muscle, External ophth... OMIM:619790
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Distal muscle weakness, Spinal muscular atrophy, Proximal muscle weakness, Scapuloperoneal amyotr... OMIM:611067
Amyotrophic Lateral Sclerosis 20
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles OMIM:615426
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Hip contracture, Shoulder flexion contracture, Progressive muscle weakness, Proximal amyotrophy, ... OMIM:605355
Combined Oxidative Phosphorylation Deficiency 6
Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Ragged-red muscle fibe... OMIM:300816
Nemaline Myopathy 2
Skeletal muscle atrophy, Neck flexor weakness, Fatty replacement of skeletal muscle, Flexion cont... OMIM:256030
Myopathy, X-Linked, With Excessive Autophagy
Skeletal muscle atrophy, Gowers sign, Flexion contracture, Proximal muscle weakness in lower limb... OMIM:310440
Spinal Muscular Atrophy, Segmental
Hand muscle atrophy, Segmental spinal muscular atrophy OMIM:183020
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Generalized muscle weakness, Increased variability in muscle fiber diameter ORPHA:238329
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers, Muscle weakness OMIM:545000
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Distal muscle weakness, Progressive muscle weakness, Abnormality of the ... ORPHA:59135
Autosomal Recessive Spastic Paraplegia Type 62
Skeletal muscle atrophy, Knee flexion contracture ORPHA:401785
Myasthenic Syndrome, Congenital, 10
Bulbar palsy, Respiratory insufficiency due to muscle weakness, Gowers sign, Axial muscle weaknes... OMIM:254300
Autosomal Recessive Spastic Paraplegia Type 43
Distal muscle weakness, Ankle flexion contracture, Knee flexion contracture, Distal amyotrophy, F... ORPHA:320370
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Hand muscle atrophy, Intermittent episodes of respiratory insufficiency due to muscle weakness, O... OMIM:601462
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Type 1 muscle fiber predo... OMIM:608340
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Proximal muscle... OMIM:618823
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency du... OMIM:617066
Nemaline Myopathy 7
Fatty replacement of skeletal muscle, Gowers sign, Respiratory insufficiency due to muscle weakne... OMIM:610687
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Fiber type grouping, Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle... OMIM:619903
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Respiratory insufficiency due to muscle weakness, Ophthalmoplegia, Flexion contracture, Increased... OMIM:607855
Adult-Onset Nemaline Myopathy
Neck flexor weakness, Respiratory insufficiency due to muscle weakness, Flexion contracture, Incr... ORPHA:171442
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al... ORPHA:352479
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Limb-girdle muscle weakness... ORPHA:86812
Legg-Calvé-Perthes Disease
Skeletal muscle atrophy ORPHA:2380
Sandhoff Disease, Adult Form
Muscle fiber atrophy, Upper limb muscle weakness, Proximal muscle weakness in lower limbs ORPHA:309169
Congenital Myopathy 10B, Mild Variant
Neck flexor weakness, Elbow contracture, Proximal muscle weakness, Fatty replacement of skeletal ... OMIM:620249
Dpm3-Cdg
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Muscle weakness, Rimm... ORPHA:263494
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Facial palsy, Respiratory insufficiency due to muscle weakness, Myopathy, Type 1 fibers relativel... OMIM:300580
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, Proximal ... OMIM:167320
Congenital Myopathy With Myasthenic-Like Onset
Scapular winging, Multiple joint contractures, Proximal muscle weakness, Respiratory insufficienc... ORPHA:424107
Myasthenic Syndrome, Congenital, 23, Presynaptic
Bulbar palsy, Fatigable weakness, Calf muscle hypertrophy, Neck muscle weakness, Muscle weakness OMIM:618197
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... OMIM:615422
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Proximal muscle weakness, Calf muscle hypertrophy, Shoul... ORPHA:34515
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Skeletal muscle atrophy, Lower-limb joint contracture, Distal muscle weakness, Muscle weakness OMIM:613710
Congenital Myopathy 3 With Rigid Spine
Poor head control, Neck flexor weakness, Facial palsy, Centrally nucleated skeletal muscle fibers... OMIM:602771
Autosomal Dominant Spastic Paraplegia Type 4
Distal amyotrophy, Lower limb muscle weakness, Leg muscle stiffness ORPHA:100985
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Hypoglycosylation of alpha-dystroglycan, Ankle flexion contracture, Gowers sign, Limb-girdle musc... OMIM:613818
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, External ophth... OMIM:255320
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Skeletal muscle atrophy, Muscle weakness OMIM:254950
Neuropathy, Congenital Hypomyelinating, 2
Skeletal muscle atrophy, Poor head control, Respiratory insufficiency due to muscle weakness, Fac... OMIM:618184
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low... OMIM:613954
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F
Distal lower limb amyotrophy, Lower limb muscle weakness, Upper limb amyotrophy ORPHA:99940
Spastic Paraplegia 62, Autosomal Recessive
Skeletal muscle atrophy OMIM:615681
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Calf muscle pseudohypertrophy, Neck flexor weakness, Gowers sign, Achilles tend... ORPHA:353
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Ge... ORPHA:75840
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Hand muscle atrophy, Distal muscle weakness, Facial palsy, Flexion contracture, Distal amyotrophy... OMIM:607684
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Li... OMIM:616812
Spastic Paraplegia 18B, Autosomal Recessive
Skeletal muscle atrophy, Joint contracture, Lower limb muscle weakness OMIM:611225
Autosomal Recessive Spastic Paraplegia Type 76
Skeletal muscle atrophy, Lower limb muscle weakness ORPHA:488594
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Congenital Myopathy 15
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Type 1 musc... OMIM:620161
Amyotrophic Lateral Sclerosis 9
Distal amyotrophy, Distal muscle weakness OMIM:611895
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Bulbar palsy, Facial palsy, Respiratory insufficiency due to muscle weakness, Gowers sign, Genera... OMIM:608930
Rigid Spine Syndrome
Hip contracture, Skeletal muscle atrophy, Poor head control, Gowers sign, Elbow flexion contractu... ORPHA:97244
Muscular Dystrophy, Congenital, With Rapid Progression
Congenital muscular dystrophy, Muscle weakness OMIM:254100
Spinal Muscular Atrophy, Ryukyuan Type
Spinal muscular atrophy, Proximal amyotrophy OMIM:271200
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Hand muscle atrophy, Skeletal muscle atrophy, Distal muscle weakness, Proximal muscle weakness ORPHA:99944
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Generalized muscle weakness, Increased variability in... OMIM:611705
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Upper limb amyotrophy... OMIM:617087
Congenital Myopathy 20
Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle... OMIM:620310
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Facial palsy, Quadriceps muscle atrophy, Proximal muscle weakness, Calf muscle hypertrophy, Shoul... OMIM:611307
Merrf
Myopathy, Ragged-red muscle fibers ORPHA:551
Facioscapulohumeral Muscular Dystrophy 1
Skeletal muscle atrophy, Scapular winging, Abdominal wall muscle weakness, Facial palsy, Beevor's... OMIM:158900
Dysequilibrium Syndrome
Skeletal muscle atrophy ORPHA:1766
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Respiratory insufficiency due to muscle weakness, Generalized muscle weakn... OMIM:603034
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Poor head control, Distal muscle weakness, Facial palsy, Proximal muscle weakne... ORPHA:353327
Muscle Filaminopathy
Scapular winging, Neck flexor weakness, Fatty replacement of skeletal muscle, Abnormality of mast... ORPHA:171445
Muscular Dystrophy, Congenital, Lmna-Related
Hip contracture, Elbow contracture, Scapuloperoneal amyotrophy, Respiratory insufficiency due to ... OMIM:613205
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Upper limb muscle weakness, Distal amyotrophy, Distal muscle weakness OMIM:605253
Spastic Paraplegia 63, Autosomal Recessive
Skeletal muscle atrophy OMIM:615686
Spinal Muscular Atrophy, Type I
Proximal muscle weakness in lower limbs, Poor head control, Spinal muscular atrophy, Proximal amy... OMIM:253300
Miyoshi Muscular Dystrophy 3
Quadriceps muscle atrophy, Quadriceps muscle weakness, Calf muscle hypertrophy, Distal upper limb... OMIM:613319
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... ORPHA:98905
Amyotrophic Lateral Sclerosis 27, Juvenile
Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Progressive muscle weakness... OMIM:620285
Hereditary Motor And Sensory Neuropathy V
Distal amyotrophy, Distal muscle weakness, Limb muscle weakness, Foot dorsiflexor weakness OMIM:600361
Congenital Myopathy 10A, Severe Variant
Poor head control, Facial palsy, Camptodactyly of finger, Diaphragmatic paralysis, Increased vari... OMIM:614399
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Scapular winging, Pelvic girdle amyotrophy, Lower limb muscle weakness, Ankle flexion contracture... ORPHA:267
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Respiratory insufficiency due to mu... OMIM:608931
Nemaline Myopathy 8
Facial palsy, Flexion contracture, Ophthalmoparesis, Myofibrillar myopathy, Nemaline bodies, Musc... OMIM:615348
Ethanolaminosis
Cardiomegaly OMIM:227150
Congenital Myopathy 4A, Autosomal Dominant
Bulbar palsy, Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, R... OMIM:255310
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Distal muscle weakness, Facial palsy, Distal amyotrophy, Limb muscle weakness, Foot dorsiflexor w... OMIM:118210
Autosomal Dominant Spastic Paraplegia Type 17
Hand muscle atrophy, Hand muscle weakness, Ankle weakness, Abnormality of the foot musculature, D... ORPHA:100998
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... OMIM:616470
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Gowers sign, Calf muscle hypertrophy, Myopathy, Pelvic girdle muscle weakness, Increased variabil... ORPHA:119
Charcot-Marie-Tooth Disease, Type 4B1
Distal amyotrophy, Distal muscle weakness, Facial palsy, Proximal muscle weakness OMIM:601382
Extensor Tendons Of Finger Anomalies
Skeletal muscle atrophy, Camptodactyly of finger ORPHA:3294
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Muscle weakness, Abnormal muscle fiber protein expression ORPHA:330054
Triose Phosphate-Isomerase Deficiency
Skeletal muscle atrophy, Diaphragmatic paralysis ORPHA:868
Hypotonia, Infantile, With Psychomotor Retardation
Respiratory insufficiency due to muscle weakness, Myopathy, Increased variability in muscle fiber... OMIM:616816
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Skeletal muscle atrophy, Macroglossia, Calf muscle hypertrophy, Muscular dystrophy, Muscle weakne... OMIM:616827
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Reduced muscle fiber alpha dystroglycan, Fatigable weakness of skeletal muscles... ORPHA:206559
Bethlem Myopathy
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... ORPHA:610
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Progressive external ophthalmoplegia, Respiratory insufficiency due to muscle weakness, Progressi... ORPHA:663
Gemignani Syndrome
Skeletal muscle atrophy ORPHA:2074
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Distal muscle weakness, Proximal muscle weakness, Upper limb muscle weakness, Distal amyotrophy, ... OMIM:605588
Nathalie Syndrome
Skeletal muscle atrophy OMIM:255990
Myopathy, Centronuclear, 2
Scapular winging, Distal muscle weakness, Facial palsy, Centrally nucleated skeletal muscle fiber... OMIM:255200
Spinocerebellar Ataxia Type 43
Distal amyotrophy, Distal lower limb muscle weakness, Distal upper limb muscle weakness, Foot dor... ORPHA:497764
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Skeletal muscle atrophy, Distal muscle weakness, Diaphragmatic paralysis, Plantar flexion contrac... OMIM:620011
Combined Oxidative Phosphorylation Deficiency 49
Progressive muscle weakness, Ragged-red muscle fibers OMIM:619024
Central Core Disease
Multiple joint contractures, Respiratory insufficiency due to muscle weakness, Ophthalmoplegia, M... ORPHA:597
X-Linked Charcot-Marie-Tooth Disease Type 3
Distal lower limb amyotrophy, Progressive distal muscle weakness, Hand muscle weakness, Intrinsic... ORPHA:101077
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Gowers sign, Flexion contra... OMIM:618484
Childhood-Onset Nemaline Myopathy
Scapular winging, Respiratory insufficiency due to muscle weakness, Fatigable weakness of bulbar ... ORPHA:171439
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Muscle weakness, Type ... OMIM:618276
Pontocerebellar Hypoplasia, Type 1C
Skeletal muscle atrophy, Joint contracture, Spinal muscular atrophy, Muscle weakness OMIM:616081
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Proximal muscle weakness, Prog... OMIM:611588
Myopathy Due To Myoadenylate Deaminase Deficiency
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Muscle weakness OMIM:615511
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Nonprogressive muscular atrophy, Distal amyotrophy ORPHA:1216
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Neck flexor weakness, Facial palsy, Triceps weakness, Ankle weakness, We... ORPHA:98913
Congenital Myopathy 24
Scapular winging, Facial palsy, Gowers sign, Type 1 muscle fiber predominance, Nemaline bodies, M... OMIM:617336
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Increased muscle glycogen content, Skeletal muscle atrophy, Muscle weakness ORPHA:371
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Skeletal muscle atrophy, Foot dorsiflexor weakness OMIM:137200
Juvenile Primary Lateral Sclerosis
Skeletal muscle atrophy, Muscle weakness ORPHA:247604
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Distal amyotrophy, Distal muscle weakness, Foot dorsiflexor weakness OMIM:618400
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Distal amyotrophy, Distal muscle weakness OMIM:615376
Congenital Muscular Dystrophy Without Intellectual Disability
Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Achilles tendon co... ORPHA:370980
Kearns-Sayre Syndrome
Skeletal muscle atrophy, Ragged-red muscle fibers, Progressive external ophthalmoplegia ORPHA:480
Amyotrophic Lateral Sclerosis 18
Skeletal muscle atrophy, Muscle weakness OMIM:614808
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... OMIM:617114
Cap Myopathy
Poor head control, Facial palsy, Abnormal muscle fiber morphology, Fatiguable weakness of proxima... ORPHA:171881
Infantile-Onset X-Linked Spinal Muscular Atrophy
Skeletal muscle atrophy, Hip contracture, Distal muscle weakness, Interphalangeal joint contractu... ORPHA:1145
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Poor head control, Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Respi... ORPHA:486815
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m... OMIM:616867
Giant Axonal Neuropathy 2, Autosomal Dominant
Distal amyotrophy, Distal muscle weakness OMIM:610100
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... OMIM:181405
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Ankle flexion contracture,... OMIM:616668
Charcot-Marie-Tooth Disease Type 2B1
Hand muscle atrophy, Toe extensor amyotrophy, Pelvic girdle muscle atrophy, Distal muscle weaknes... ORPHA:98856
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Distal amyotrophy, Distal muscle weakness, Foot dorsiflexor weakness, Thenar muscle atrophy OMIM:606483
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter, Poor head control OMIM:613752
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Skeletal muscle atrophy, Progressive distal muscular atrophy, Spinal muscular atrophy, Facial pal... OMIM:159950
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:2597
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Upper limb muscle weakness, Distal amyotrophy, Distal muscle weakness, Foot dorsiflexor weakness OMIM:302802
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... OMIM:123320
Spastic Paraplegia 17, Autosomal Dominant
Distal muscle weakness, Thenar muscle atrophy, Thenar muscle weakness, First dorsal interossei mu... OMIM:270685
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m... OMIM:609308
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Distal amyotrophy ORPHA:639
Amyotrophic Lateral Sclerosis 21
Bulbar palsy, Distal muscle weakness, Centrally nucleated skeletal muscle fibers, Hand muscle wea... OMIM:606070
Amyotrophic Lateral Sclerosis 8
Skeletal muscle atrophy, Distal muscle weakness, Proximal muscle weakness, Progressive muscle wea... OMIM:608627
X-Linked Centronuclear Myopathy
Weakness of facial musculature, Centrally nucleated skeletal muscle fibers, Fatigable weakness of... ORPHA:596
Spastic Paraplegia 64, Autosomal Recessive
Skeletal muscle atrophy OMIM:615683
Myopathy And Diabetes Mellitus
Distal lower limb amyotrophy, Achilles tendon contracture, Progressive proximal muscle weakness, ... ORPHA:2596
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Scapular winging, Myositis, Facial palsy, Flexion contracture, Proximal amyotrophy, Muscular dyst... OMIM:253600
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Skeletal muscle atrophy, Limb muscle weakness OMIM:620378
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Bulbar palsy, Respiratory insufficiency due to muscle weakness, Type 2 muscle fiber atrophy, Opht... OMIM:605809
Autosomal Spastic Paraplegia Type 30
Distal amyotrophy, Leg muscle stiffness ORPHA:101010
Duchenne Muscular Dystrophy
Skeletal muscle atrophy, Proximal muscle weakness, Progressive muscle weakness, Flexion contractu... ORPHA:98896
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Respiratory insufficiency due to muscle weakness, Gowers sign, Ragged-red muscle fibers, Limb mus... OMIM:609560
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Proximal muscle weakness, Quadriceps muscle weakness, Generalized muscle weakness, Elbow flexion ... ORPHA:206546
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Episodic flaccid weakness, Respiratory paralysis, Increased int... ORPHA:681
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Progressive distal muscle weakness, Proximal muscle weakness, Fatty replacement of skeletal muscl... ORPHA:397744
Congenital Myopathy 2A, Typical, Autosomal Dominant
Bulbar palsy, Neck flexor weakness, Facial palsy, Proximal muscle weakness, Respiratory insuffici... OMIM:161800
Charcot-Marie-Tooth Disease And Deafness
Distal muscle weakness, Thenar muscle atrophy, Ankle weakness, Thenar muscle weakness, Distal amy... OMIM:118300
Spinocerebellar Ataxia 43
Distal amyotrophy OMIM:617018
Charcot-Marie-Tooth Disease Type 1A
Calf muscle hypertrophy, Skeletal muscle atrophy, Distal muscle weakness, Diaphragmatic weakness ORPHA:101081
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Flexion contracture, Generalized muscle w... ORPHA:171433
Nemaline Myopathy 9
Arthrogryposis multiplex congenita, Nemaline bodies, Muscle weakness OMIM:615731
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Muscle weakness OMIM:616794
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... ORPHA:254361
Myasthenic Syndrome, Congenital, 6, Presynaptic
Bulbar palsy, Respiratory insufficiency due to muscle weakness, Ophthalmoparesis, Fatigable weakn... OMIM:254210
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy
Muscular dystrophy, Muscle weakness OMIM:253590
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Generalized amyotrophy ORPHA:2589
Deafness-Vitiligo-Achalasia Syndrome
Skeletal muscle atrophy, Achalasia ORPHA:3239
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Proximal muscle weakness in upper limbs, Distal muscle weakness, Flexion contracture, Proximal mu... OMIM:607706
Amyotrophy, Monomelic
Upper limb muscle weakness, Cold paresis, Interosseus muscle atrophy OMIM:602440
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets OMIM:619065
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotrop... OMIM:255160
Spinocerebellar Ataxia 18
Skeletal muscle atrophy, Limb muscle weakness OMIM:607458
Spastic Paraplegia With Neuropathy And Poikiloderma
Distal amyotrophy OMIM:182815
Neuropathy, Congenital, With Arthrogryposis Multiplex
Arthrogryposis multiplex congenita, Distal amyotrophy, Distal muscle weakness, Proximal muscle we... OMIM:162370
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Skeletal muscle atrophy, Achalasia ORPHA:2400
Spastic Paraplegia 70, Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture OMIM:620323
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr... ORPHA:254864
Microcephaly, Seizures, And Developmental Delay
Skeletal muscle atrophy OMIM:613402
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Muscular dystrophy, Proxima... OMIM:615352
Myopathy, Centronuclear, 5
Hip contracture, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Ophthalmop... OMIM:615959
Myasthenic Syndrome, Congenital, 25, Presynaptic
Myopathy, Poor head control, Flexion contracture, Generalized amyotrophy OMIM:618323
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Muscular Dystrophy, Congenital, Megaconial Type
Facial palsy, Gowers sign, Myopathy, Muscular dystrophy, Increased endomysial connective tissue, ... OMIM:602541
Proximal Myopathy With Extrapyramidal Signs
Proximal muscle weakness, Centrally nucleated skeletal muscle fibers, Ophthalmoplegia, Increased ... ORPHA:401768
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elbow flexion contracture, Muscular dystrophy, Generalized amyotrophy, Joint contracture, Muscle ... OMIM:616516
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Distal amyotrophy, Spinal muscular atrophy, Foot dorsiflexor weakness OMIM:617207
Autosomal Recessive Spastic Paraplegia Type 74
Distal amyotrophy, Distal lower limb muscle weakness ORPHA:468661
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Scapular winging, Bulbar palsy, Spinal muscular atrophy, Gowers sign, Achilles t... OMIM:615290
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy, Distal muscle weakness ORPHA:101078
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Generalized muscle weakness OMIM:614096
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Skeletal muscle atrophy, Bulbar palsy, Muscle weakness OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Skeletal muscle atrophy, Bulbar palsy, Muscle weakness OMIM:616437
Pure Mitochondrial Myopathy
Progressive external ophthalmoplegia, Scapular winging, Distal muscle weakness, Neck flexor weakn... ORPHA:254854
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Distal muscle weakness, Proximal muscle weakness, Upper limb muscle weakness, Distal amyotrophy, ... ORPHA:99939
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Calf muscle hypertrophy, Skeletal muscle atrophy, Myositis, Proximal muscle weakness in lower limbs ORPHA:565899
Mitochondrial Dna Depletion Syndrome 18
Hand muscle atrophy, Distal muscle weakness, Proximal muscle weakness, Distal amyotrophy, Weaknes... OMIM:618811
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Distal amyotrophy OMIM:205200
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Poor head control, Facial palsy, Ankle flexion contracture, Type 1 muscle fiber atrophy, Distal a... OMIM:617519
Charcot-Marie-Tooth Disease Type 1B
Skeletal muscle hypertrophy, Skeletal muscle atrophy, Muscle weakness ORPHA:101082
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Rhabdomyolysis, Weakness of facial musculature, Ragged-red muscle fibers, Proximal muscle weakness OMIM:618416
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Poor head control, Intermittent episode... ORPHA:324604
Amyotrophic Lateral Sclerosis 11
Skeletal muscle atrophy OMIM:612577
Mitochondrial Complex I Deficiency, Nuclear Type 23
Skeletal muscle atrophy OMIM:618244
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Distal amyotrophy, Distal muscle weakness, Proximal muscle weakness OMIM:607831
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc... OMIM:226670
Spastic Paraplegia 45, Autosomal Recessive
Skeletal muscle atrophy, Flexion contracture OMIM:613162
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Oculopharyngodistal Myopathy
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Progressive external ophth... ORPHA:98897
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Skeletal muscle atrophy, Facial palsy, Elbow contracture, Proximal muscle weakness, Achilles tend... OMIM:606612
8p23.1 deletion syndrome
Congenital diaphragmatic hernia DECIPHER:39
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Muscle weakness OMIM:612069
Myopathy, Myofibrillar, 6
Scapular winging, Distal muscle weakness, Facial palsy, Proximal muscle weakness, Generalized mus... OMIM:612954
Vocal Cord And Pharyngeal Distal Myopathy
Bulbar palsy, Distal muscle weakness, Abnormal morphology of musculature of pharynx, Ankle weakne... ORPHA:600
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Facial palsy, Proximal muscle weakness, Respiratory insu... OMIM:254090
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Skeletal muscle atrophy, Bulbar palsy, Progressive external ophthalmoplegia, Distal muscle weakne... ORPHA:254875
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Distal lower limb amyotrophy, Intrinsic hand muscle atrophy, Upper limb amyotrophy, Distal upper ... ORPHA:90103
Adult-Onset Distal Myopathy Due To Vcp Mutation
Scapular winging, Abnormality of the musculature of the lower limbs, Distal muscle weakness, Prox... ORPHA:329478
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Ragged-red muscle fibers OMIM:615159
Lethal Congenital Contracture Syndrome 8
Facial diplegia, Distal amyotrophy, Flexion contracture, Distal arthrogryposis OMIM:616287
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Distal lower limb amyotrophy, Distal muscle weakness, Distal amyotrophy, Distal lower limb muscle... OMIM:600882
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Distal lower limb amyotrophy, Scapular winging, Peroneal muscle weakness, Peroneal muscle atrophy... OMIM:181350
Typical Nemaline Myopathy
Neck flexor weakness, Facial palsy, Fatigable weakness of distal limb muscles, Fatiguable weaknes... ORPHA:171436
Myopathy, Myofibrillar, 8
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Gowers si... OMIM:617258
Macular Degeneration, Age-Related, 3
Distal amyotrophy, Distal muscle weakness OMIM:608895
Deafness, Congenital, With Vitiligo And Achalasia
Skeletal muscle atrophy, Achalasia OMIM:221350
Glycogen Storage Disease Due To Aldolase A Deficiency
Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S... ORPHA:57
Lethal Congenital Contracture Syndrome 7
Skeletal muscle atrophy, Facial diplegia, Distal arthrogryposis, Knee flexion contracture OMIM:616286
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Skeletal muscle hypertrophy, Muscular dystrophy, Proximal muscle weakness OMIM:613158
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Increased variability in muscle fiber diameter OMIM:617915
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Distal amyotrophy, Distal muscle weakness, Limb muscle weakness, Foot dorsiflexor weakness OMIM:618387
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Prog... ORPHA:169186
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Myopathy, Ophthalmoplegia, Increased variability in muscle fiber diameter OMIM:125250
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Progressive external ophthalmoplegia, Gowers sign, Ophthalmoparesis, Myopathy, Shoulder girdle mu... OMIM:615156
Myasthenic Syndrome, Congenital, 19
Bulbar palsy, Poor head control, Distal muscle weakness, Facial palsy, Proximal muscle weakness, ... OMIM:616720
Spastic Paraplegia 2, X-Linked
Skeletal muscle atrophy, Flexion contracture, Lower limb muscle weakness OMIM:312920
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Distal amyotrophy, Distal muscle weakness, Foot dorsiflexor weakness OMIM:607736
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Poor head control, Flexion contracture, Axial muscle weakness, Myopathy ORPHA:157973
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Lower limb amyotrophy, Upper limb amyotrophy, Knee flexi... ORPHA:496689
Spastic Paraplegia 55, Autosomal Recessive
Lower limb amyotrophy, Tibialis anterior muscle atrophy, Lower limb muscle weakness, Foot dorsifl... OMIM:615035
Mitochondrial Complex I Deficiency, Nuclear Type 21
Myopathy, Ragged-red muscle fibers OMIM:618242
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Scapular winging, Myositis, Fatiguable weakness of proximal limb muscles... ORPHA:206569
Siddiqi Syndrome
Flexion contracture, Lower limb amyotrophy OMIM:618635
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers, Ophthalmoparesis OMIM:500003
Autosomal Recessive Spastic Paraplegia Type 67
Generalized amyotrophy ORPHA:401820
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Skeletal muscle atrophy, Poor head control, Myopathy, Muscle weakness ORPHA:300179
Charcot-Marie-Tooth Disease Type 4D
Distal muscle weakness, Proximal muscle weakness, Upper limb amyotrophy, Distal upper limb muscle... ORPHA:99950
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... ORPHA:536516
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Distal muscle weakness, Flexion contracture, Distal amyotrophy, Limb muscle weakness, Foot dorsif... OMIM:609260
Charcot-Marie-Tooth Disease, Type 4B3
Skeletal muscle atrophy, Ophthalmoplegia, Upper limb muscle weakness, Distal lower limb muscle we... OMIM:615284
Charcot-Marie-Tooth Disease, Dominant Intermediate G
Distal muscle weakness, Lower limb muscle weakness, Proximal muscle weakness, Gowers sign, Lower ... OMIM:617882
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Distal amyotrophy OMIM:619099
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Flexion contracture, Axial muscle weakness, Arthrogryposis multiplex congenita, Increased endomys... ORPHA:178148
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Generalized amyotroph... OMIM:613561
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Cardiomegaly ORPHA:88643
Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy, Muscle weakness OMIM:105400
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Distal amyotrophy, Distal muscle weakness OMIM:311070
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Limb muscle weakness, Nemaline bodies OMIM:606842
Spastic Paraplegia 30, Autosomal Dominant
Lower limb amyotrophy, Lower limb muscle weakness OMIM:610357
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy, Elbow flexion ... OMIM:310300
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Distal muscle wea... ORPHA:435387
Mitochondrial Complex I Deficiency, Nuclear Type 25
Myopathy, Nemaline bodies OMIM:618246
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Generalized muscle weakness, ... OMIM:620278
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Distal lower limb amyotrophy, Thenar muscle atrophy, Distal upper limb muscle weakness, Distal lo... OMIM:500013
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Progressive external ophthalmoplegia, Generalized muscle weakness, Ragged-red muscle fibers, Musc... OMIM:613662
Myasthenic Syndrome, Congenital, 20, Presynaptic
Skeletal muscle atrophy, Bulbar palsy, Facial palsy, Proximal muscle weakness, Ophthalmoparesis, ... OMIM:617143
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Distal amyotrophy, Distal muscle weakness OMIM:607734
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Myopathy With Lactic Acidosis, Hereditary
Skeletal muscle atrophy, Distal muscle weakness, Rhabdomyolysis, Ophthalmoparesis, Myopathy, Incr... OMIM:255125
Autosomal Dominant Spastic Paraplegia Type 41
Lower limb amyotrophy, Proximal muscle weakness, Hand muscle weakness ORPHA:320355
Arthrogryposis Multiplex Congenita 6
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congenita OMIM:619334
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Distal muscle weakness, Facial pal... OMIM:258450
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Increased intramy... OMIM:617228
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Distal muscle weakness, Proximal muscle weakness, Fatty replacement of skeletal muscle, Generaliz... ORPHA:52430
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Distal amyotrophy, Distal muscle weakness OMIM:606482
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Roussy-Lévy Syndrome
Skeletal muscle atrophy, Distal amyotrophy, Lower limb muscle weakness, Intrinsic hand muscle atr... ORPHA:3115
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Proximal amyotrophy OMIM:608030
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Fatty replacement of skeletal muscle, Distal muscle weakness, Distal amyotrophy, Distal lower lim... OMIM:618279
Spinocerebellar Ataxia 28
Lower limb hypertonia, Ragged-red muscle fibers, Ophthalmoparesis OMIM:610246
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Progressive muscle weakness, Rimmed vacuoles, Skeletal muscle autophagosome accumulation, Central... OMIM:619518
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Hypoglycosylation of alpha-dystroglycan, Poor head control, Generalized limb muscle atrophy, Musc... OMIM:615351
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Gowers sign, Proximal muscle weakness, Proximal amyotrophy OMIM:617404
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Skeletal muscle atrophy, Distal muscle weakness, Intrinsic hand muscle atrophy, Distal amyotrophy... OMIM:614895
Glycogen Storage Disease Xv
Scapular winging, Muscle weakness, Type 1 muscle fiber predominance OMIM:613507
Spinocerebellar Ataxia, Autosomal Recessive 4
Distal amyotrophy, Distal muscle weakness, Lower limb muscle weakness, Torticollis OMIM:607317
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Amyotrophic Lateral Sclerosis 5, Juvenile
Respiratory insufficiency due to muscle weakness, Distal amyotrophy, Distal muscle weakness OMIM:602099
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Skeletal muscle atrophy OMIM:183050
Digital Extensor Muscle Aplasia-Polyneuropathy
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Camptodactyly of ... ORPHA:2926
Benign Samaritan Congenital Myopathy
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers ORPHA:324581
Spastic Paraplegia 76, Autosomal Recessive
Skeletal muscle atrophy, Lower limb muscle weakness OMIM:616907
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Distal amyotrophy, Distal muscle weakness, Foot dorsiflexor weakness OMIM:614436
Neurogenic Arthrogryposis Multiplex Congenita
Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle flexion contracture, ... ORPHA:1143
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Ophthalmoplegia, Ragged-red muscle... OMIM:616479
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Hypoglycosylation of alpha-dystroglycan, Poor head control, Muscular dystrophy, Muscle weakness OMIM:615350
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Peroneal muscle weakness, Hand ... ORPHA:101097
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Flexion contracture, Increased variability in muscle fiber diameter, Gen... OMIM:616866
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Scapular winging, Small thenar eminence, Distal lower limb muscle weakness, Tendon rupture, Fiber... OMIM:620080
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Neck flexor weakness, Respiratory ... ORPHA:329336
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Gowers sign, Proximal amyotrophy, Upper limb muscle weakness, Calf muscle hypertrophy, Lower limb... ORPHA:209335
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Rhabdomyolysis, Muscle weakness OMIM:255110
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Left ventricular ... OMIM:615418
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Proximal muscle weakness, Myopathy, Muscular dystrophy, Lower limb muscl... OMIM:615980
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Distal amyotrophy, Distal muscle weakness, Limb muscle weakness, Foot dorsiflexor weakness OMIM:118220
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia OMIM:614100
X-Linked Intellectual Disability, Miles-Carpenter Type
Skeletal muscle atrophy ORPHA:85283
Autosomal Recessive Progressive External Ophthalmoplegia
Scapular winging, Facial palsy, Hand muscle weakness, External ophthalmoplegia, Proximal muscle w... ORPHA:254886
Roussy-Levy Hereditary Areflexic Dystasia
Distal amyotrophy, Distal muscle weakness OMIM:180800
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Skeletal muscle atrophy OMIM:617892
Cutis Laxa-Marfanoid Syndrome
Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
Madras Motor Neuron Disease
Distal amyotrophy, Distal muscle weakness, Bulbar palsy, Facial palsy ORPHA:137867
Mitochondrial Dna Depletion Syndrome 11
Progressive external ophthalmoplegia, Facial palsy, Ragged-red muscle fibers, Proximal amyotrophy... OMIM:615084
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ophthalmoplegia, Ragged-red muscle fibers, Flexion contracture, Left ventricular noncompaction, I... OMIM:252011
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Distal amyotrophy, Distal muscle weakness OMIM:601098
Hereditary Motor And Sensory Neuropathy, Type Iic
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotrophy, Diaph... OMIM:606071
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Distal muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy... OMIM:619574
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Obesity, Increased adipose tissue ORPHA:71529
Myotonia, Potassium-Aggravated
Skeletal muscle hypertrophy, Skeletal muscle atrophy, Muscle weakness OMIM:608390
Myoclonus, Intractable, Neonatal
Increased variability in muscle fiber diameter OMIM:617235
Spinal Muscular Atrophy, X-Linked 2
Multiple joint contractures, Spinal muscular atrophy, Facial palsy, Respiratory insufficiency due... OMIM:301830
Mitochondrial Complex I Deficiency, Nuclear Type 17
Skeletal muscle atrophy, Muscle weakness OMIM:618239
Charcot-Marie-Tooth Disease Type 4G
Proximal muscle weakness, Upper limb amyotrophy, Distal upper limb muscle weakness, Distal amyotr... ORPHA:99953
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, External oph... ORPHA:169189
Myasthenia, Limb-Girdle, Autoimmune
Fatigable weakness, Type 2 muscle fiber atrophy, Ophthalmoparesis, Proximal amyotrophy OMIM:159400
Congenital Myopathy 22A, Classic
Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, External ophthalmo... OMIM:620351
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Total ophthalmoplegia, Skeletal muscle atrophy, Progressive external ophthalmoplegia, Neck flexor... OMIM:157640
Oliver-Mcfarlane Syndrome
Distal amyotrophy, Distal muscle weakness OMIM:275400
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Distal amyotrophy, Distal muscle weakness, Limb muscle weakness, Foot dorsiflexor weakness OMIM:118200
Combined Oxidative Phosphorylation Deficiency 13
Skeletal muscle atrophy, Poor head control OMIM:614932
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Spastic Paraplegia Type 7
Upper limb muscle weakness, Lower limb hypertonia, Ragged-red muscle fibers, Lower limb muscle we... ORPHA:99013
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia ORPHA:99811
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Flexion contracture, Axial muscle weaknes... ORPHA:171430
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... ORPHA:98855
Fried Syndrome
Skeletal muscle atrophy ORPHA:85335
Congenital Diaphragmatic Hernia
Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia ORPHA:2140
Autosomal Dominant Spastic Paraplegia Type 6
Skeletal muscle atrophy ORPHA:100988
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Large for gestational age ORPHA:2432
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Left ventricular hypertrophy, Myopathy, Ophthalmoplegia, Ragged-red muscle fibers OMIM:540000
Summitt Syndrome
Obesity OMIM:272350
Oculopharyngodistal Myopathy 1
Distal muscle weakness, Autophagic vacuoles, Facial palsy, Proximal muscle weakness, External oph... OMIM:164310
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Respiratory insufficiency due to muscle weakness, Elbow flexion contra... OMIM:619461
Sandhoff Disease, Juvenile Form
Skeletal muscle atrophy, Distal muscle weakness, Limb joint contracture, Proximal muscle weakness ORPHA:309162
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Skeletal muscle atrophy, Limb muscle weakness OMIM:612300
Brown-Vialetto-Van Laere Syndrome 2
Bulbar palsy, Facial palsy, Generalized amyotrophy, Neck muscle weakness, Limb muscle weakness OMIM:614707
Congenital Myopathy 19
Skeletal muscle atrophy, Facial hypotonia, Respiratory insufficiency due to muscle weakness, Cong... OMIM:618578
Autosomal Dominant Spastic Paraplegia Type 42
Lower limb amyotrophy, Lower limb muscle weakness, Lower limb hypertonia ORPHA:171863
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Distal muscle weakness, Proximal muscle weakness, Intrinsic hand muscle atrophy, Distal amyotroph... OMIM:616688
Marinesco-Sjogren Syndrome
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Progressive muscle weakness,... OMIM:248800
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficiency due to muscl... ORPHA:98863
Camurati-Engelmann Disease, Type 2
Hip contracture, Skeletal muscle atrophy, Muscle weakness, Knee flexion contracture OMIM:606631
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficiency due to muscl... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficiency due to muscl... ORPHA:98853
Mitochondrial Complex I Deficiency, Nuclear Type 31
Skeletal muscle atrophy OMIM:618251
Autosomal Recessive Spastic Paraplegia Type 26
Skeletal muscle atrophy, Muscle weakness ORPHA:101006
Ataxia-Deafness-Intellectual Disability Syndrome
Skeletal muscle atrophy ORPHA:1188
Combined Oxidative Phosphorylation Defect Type 13
Hip contracture, Poor head control, Ankle flexion contracture, Lower limb hypertonia, Type 1 musc... ORPHA:319514
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Skeletal muscle atrophy, Joint contracture, Muscle weakness OMIM:615704
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
External ophthalmoplegia, Increased variability in muscle fiber diameter, Flexion contracture OMIM:619026
Spastic Paraplegia 39, Autosomal Recessive
Distal amyotrophy, Distal lower limb muscle weakness OMIM:612020
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Spinocerebellar Ataxia, Autosomal Recessive 21
Skeletal muscle atrophy, Distal muscle weakness OMIM:616719
Spinocerebellar Ataxia Type 3
Skeletal muscle atrophy, Progressive external ophthalmoplegia ORPHA:98757
Pontocerebellar Hypoplasia, Type 1B
Skeletal muscle atrophy, Poor head control, Flexion contracture, Muscle weakness OMIM:614678
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Obesity, Large for gestational age OMIM:240900
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Progressive external ophthalmoplegia, Ragged-red muscle fibers, Muscle weakness, Ophthalmoparesis ORPHA:1349
Charcot-Marie-Tooth Disease, Type 4B2
Distal amyotrophy, Distal muscle weakness, Foot dorsiflexor weakness OMIM:604563
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Progressive external ophthalmoplegia, Respiratory insufficiency due to muscle weakness, Ragged-re... ORPHA:352447
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Muscle fiber atrophy, Rhabdomyolysis, Increased muscle lipid content, Muscle weakness ORPHA:228302
Glycogen Storage Disease Vii
Increased muscle glycogen content, Increased variability in muscle fiber diameter, Muscle weakness OMIM:232800
Fetal Akinesia Deformation Sequence 4
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Camptodactyly OMIM:618393
Spastic Paraplegia 85, Autosomal Recessive
Torticollis, Lower limb muscle weakness, Generalized amyotrophy OMIM:619686
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Amyotrophic Dystonic Paraplegia
Skeletal muscle atrophy OMIM:105300
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Proximal muscle weakness, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy, Muscle fi... ORPHA:369840
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Distal amyotrophy, Distal lower limb muscle weakness ORPHA:94124
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Scapular winging, Progressive external ophthalmoplegia, Distal muscle we... OMIM:607459
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:261102
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy, Muscle weakness OMIM:105550
Proximal Spinal Muscular Atrophy
Skeletal muscle atrophy, Bulbar palsy, Multiple joint contractures, Poor head control, Distal mus... ORPHA:70
Synaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Scapular winging, Poor head control, Distal muscle weakness, Facial pals... ORPHA:98915
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Type 1 muscle fiber predomi... OMIM:619542
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Spinocerebellar Ataxia Type 18
Skeletal muscle atrophy, Muscle weakness ORPHA:98771
Danon Disease
Myocardial necrosis, Distal muscle weakness, Proximal muscle weakness, Lower limb amyotrophy, EMG... OMIM:300257
Developmental And Epileptic Encephalopathy 86
Generalized amyotrophy OMIM:618910
Juvenile Hyaline Fibromatosis
Skeletal muscle atrophy, Progressive flexion contractures ORPHA:2028
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Progressive external ophthalmoplegia, Proximal muscle weakness, Progressive muscle weakness, Ragg... OMIM:609286
Spastic Paraplegia 16, X-Linked
Facial hypotonia, Lower limb amyotrophy, Lower limb muscle weakness OMIM:300266
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Spastic Paraplegia 5A, Autosomal Recessive
Upper limb muscle weakness, Lower limb amyotrophy, Lower limb muscle weakness, Upper limb amyotrophy OMIM:270800
Charcot-Marie-Tooth Disease, Type 4K
Skeletal muscle atrophy OMIM:616684
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers ORPHA:477774
Intellectual Disability-Developmental Delay-Contractures Syndrome
Distal amyotrophy, Congenital foot contractures ORPHA:3454
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Distal muscle weakness, Spinal muscular atrophy, Camptodactyly of finger, Denervation of the diap... OMIM:604320
Postpoliomyelitis Syndrome
Skeletal muscle atrophy, Muscle weakness ORPHA:2942
Riboflavin Transporter Deficiency
Skeletal muscle atrophy, Bulbar palsy, Facial palsy, Limb muscle weakness, Muscle weakness ORPHA:97229
Glycogen Storage Disease Iii
Myopathy, Distal amyotrophy, Muscle weakness OMIM:232400
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Distal amyotrophy, Ophthalmoplegia, Muscle weakness, Fiber type grouping OMIM:271245
Kennedy Disease
Skeletal muscle atrophy ORPHA:481
Fetal Encasement Syndrome
Congenital diaphragmatic hernia OMIM:613630
Combined Oxidative Phosphorylation Deficiency 24
Skeletal muscle atrophy, Proximal muscle weakness, Ragged-red muscle fibers, Myopathy, Weakness o... OMIM:616239
Autosomal Recessive Spastic Paraplegia Type 66
Lower limb amyotrophy, Limb hypertonia ORPHA:401815
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter OMIM:619173
Coenzyme Q10 Deficiency, Primary, 9
Type 2 muscle fiber predominance OMIM:619028
Isolated Succinate-Coq Reductase Deficiency
Skeletal muscle atrophy, Poor head control, Proximal muscle weakness, External ophthalmoplegia, G... ORPHA:3208
Body Mass Index Quantitative Trait Locus 20
Obesity, Tall stature OMIM:618406
Pontocerebellar Hypoplasia, Type 1A
Spinal muscular atrophy, Congenital contracture, Distal amyotrophy, Intercostal muscle weakness, ... OMIM:607596
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Progressive proximal mu... ORPHA:368
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Proximal muscle weakness, Proximal amyotrophy OMIM:604484
Facioscapulohumeral Dystrophy
Skeletal muscle atrophy ORPHA:269
Amyotrophy, Hereditary Neuralgic
Skeletal muscle atrophy, Muscle weakness OMIM:162100
Becker Muscular Dystrophy
Skeletal muscle atrophy, Muscle weakness ORPHA:98895
Combined Oxidative Phosphorylation Deficiency 7
Skeletal muscle atrophy, External ophthalmoplegia, Ophthalmoplegia, Facial diplegia, Facial paral... OMIM:613559
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Skeletal muscle atrophy ORPHA:477814
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Poor head control, Type 1 muscle fiber predominan... OMIM:612949
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Facial diplegia, Arthr... OMIM:611890
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Ophthalmoparesis, Facial palsy, Abnormal muscle fiber morphology ORPHA:3068
Juvenile Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Distal muscle weakness, Neck flexor weakness, Proximal muscle weakness, ... ORPHA:300605
Native American Myopathy
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Congenital contracture, Campt... ORPHA:168572
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Lower limb hypertonia, Lower limb muscle weakness, Generalized amyotrophy ORPHA:1177
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter, Poor head control OMIM:615595
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Skeletal muscle atrophy ORPHA:330050
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Scapular winging, Gowers sign, Progressive muscle weakness, Ragged-red muscle fibers, Generalized... OMIM:600462
Thyrocerebroretinal Syndrome
Skeletal muscle atrophy OMIM:274240
Leber Optic Atrophy And Dystonia
Skeletal muscle atrophy OMIM:500001
Microhydranencephaly
Skeletal muscle atrophy, Poor head control, Multiple joint contractures, Generalized amyotrophy OMIM:605013
Deafness, X-Linked 5, With Peripheral Neuropathy
Skeletal muscle atrophy OMIM:300614
Ehlers-Danlos Syndrome, Classic-Like
Proximal amyotrophy, Proximal muscle weakness, Muscle fiber splitting OMIM:606408
Cleft Palate-Large Ears-Small Head Syndrome
Skeletal muscle atrophy ORPHA:2013
Classical-Like Ehlers-Danlos Syndrome Type 1
Skeletal muscle atrophy, Muscle weakness, Proximal muscle weakness ORPHA:230839
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Increased variability in muscle fiber diameter, Ragged-red muscle fibers, Proximal muscle weaknes... ORPHA:70595
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
Sialidosis Type 2
Skeletal muscle atrophy, Flexion contracture, Muscle weakness ORPHA:87876
Lethal Congenital Contracture Syndrome 1
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Hypoplasia of the musculature OMIM:253310
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Skeletal muscle atrophy ORPHA:2840
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Charcot-Marie-Tooth Disease, Type 4C
Distal muscle weakness, Facial palsy, Proximal muscle weakness, Upper limb muscle weakness, Dista... OMIM:601596
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity OMIM:184700
Pontocerebellar Hypoplasia Type 1
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Muscle weakness ORPHA:2254
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Skeletal muscle atrophy, Bulbar palsy, Facial palsy, Proximal muscle weaknes... OMIM:211530
Ataxia-Oculomotor Apraxia 3
Distal amyotrophy, Muscle weakness OMIM:615217
Hypertrophic Neuropathy Of Dejerine-Sottas
Distal muscle weakness, Proximal muscle weakness, Distal amyotrophy, Distal lower limb muscle wea... OMIM:145900
Charcot-Marie-Tooth Disease Type 1F
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Distal lower limb amyotrophy, Pro... ORPHA:101085
Neutral Lipid Storage Myopathy
Progressive distal muscle weakness, Hand muscle weakness, Fatty replacement of skeletal muscle, G... ORPHA:98908
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Skeletal muscle atrophy, Distal muscle weakness OMIM:162400
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Muscle fiber atrophy, Flexion contracture OMIM:620240
Obesity And Hypopigmentation
Overgrowth, Obesity OMIM:620195
Bardet-Biedl Syndrome 2
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve, Obesity OMIM:615981
Congenital Myasthenic Syndrome
Bulbar palsy, Poor head control, Proximal muscle weakness, Intermittent episodes of respiratory i... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Bulbar palsy, Poor head control, Proximal muscle weakness, Intermittent episodes of respiratory i... ORPHA:98914
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Proximal muscle weakness, Gowers sign, Increased variability in muscle fiber diameter, Increased ... ORPHA:502423
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Generalized muscle weakness, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy OMIM:619424
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia ORPHA:2141
Genetic Recurrent Myoglobinuria
Proximal muscle weakness in upper limbs, Myositis, Viral infection-induced rhabdomyolysis, Fatiga... ORPHA:99845
Familial Partial Lipodystrophy, Dunnigan Type
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size ORPHA:2348
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Skeletal muscle atrophy OMIM:616896
Spastic Paraplegia 11, Autosomal Recessive
Skeletal muscle atrophy, Lower limb muscle weakness, Thenar muscle atrophy OMIM:604360
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Hand muscle weakness, Limb-girdle muscle weakness, Upper limb muscle weakness, Foot dorsiflexor w... ORPHA:466768
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Increased variability in muscle fiber diameter, Poor head control, Muscular dystrophy OMIM:616538
Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Fatigable weakness of bulbar muscles, Generalized muscle weakness, Fatig... ORPHA:803
Posterior Column Ataxia With Retinitis Pigmentosa
Skeletal muscle atrophy, Distal muscle weakness, Joint contracture of the hand, Camptodactyly, Ac... OMIM:609033
Charcot-Marie-Tooth Disease, Type 4A
Distal amyotrophy, Distal muscle weakness OMIM:214400
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia OMIM:615524
Greig Cephalopolysyndactyly Syndrome
Camptodactyly of toe, Joint contracture of the hand, Abnormal muscle fiber morphology OMIM:175700
Pparg-Related Familial Partial Lipodystrophy
Skeletal muscle hypertrophy, Myopathy, Calf muscle pseudohypertrophy, Abnormality of skeletal mus... ORPHA:79083
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Childhood-onset truncal obesity, Obesity, Increased adipose tissue ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Childhood-onset truncal obesity, Obesity, Increased adipose tissue ORPHA:71526
Isolated Anencephaly
Congenital diaphragmatic hernia ORPHA:563609
Myotonic Dystrophy 2
Neck flexor weakness, Proximal muscle weakness, Generalized amyotrophy, Weakness of facial muscul... OMIM:602668
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Abnormal mitochondria in muscle tissue, Distal amyotrophy, Distal muscle weakness, Lower limb mus... ORPHA:313772
Hepatic Veno-Occlusive Disease
Hepatomegaly, Increased body weight ORPHA:890
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Flexion contracture, Genera... OMIM:613327
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Abnormality of the diaphragm, Congenital diaphragmatic hernia OMIM:601163
Melorheostosis
Skeletal muscle atrophy ORPHA:2485
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Skeletal muscle atrophy, Foot joint contracture ORPHA:457205
Giant Axonal Neuropathy 1, Autosomal Recessive
Distal amyotrophy, Distal muscle weakness, Facial palsy, Proximal muscle weakness OMIM:256850
Gm1-Gangliosidosis, Type Iii
Skeletal muscle atrophy OMIM:230650
Hypotonia-Cystinuria Syndrome
Ragged-red muscle fibers, Facial palsy, Muscle weakness OMIM:606407
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Distal amyotrophy, Spinal muscular atrophy, Foot dorsiflexor weakness ORPHA:496756
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Small for gestational age, Ventricular septal defect, Large for gestational age, Abn... ORPHA:254534
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Generalized amyotrophy OMIM:610006
Bardet-Biedl Syndrome 8
Situs inversus totalis, Obesity OMIM:615985
Rhizomelic Chondrodysplasia Punctata, Type 5
Skeletal muscle atrophy, Muscle weakness, Contractures of the large joints OMIM:616716
Amyotrophic Lateral Sclerosis 2, Juvenile
Hand muscle atrophy, Skeletal muscle atrophy, Distal lower limb amyotrophy, Distal muscle weaknes... OMIM:205100
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Muscle weakness OMIM:232500
Mitochondrial Complex I Deficiency, Nuclear Type 39
Small for gestational age, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal ... OMIM:620135
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Distal amyotrophy, Muscle weakness OMIM:617675
Autosomal Recessive Spastic Paraplegia Type 55
Skeletal muscle atrophy, Tibialis muscle weakness, Ophthalmoplegia, Upper limb muscle weakness, A... ORPHA:320375
Hereditary Sensory And Autonomic Neuropathy Type 2
Skeletal muscle atrophy ORPHA:970
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased muscle mass, Distal muscle weakness, External ophthalmoplegia, Ragged-red muscle fibers... ORPHA:298
Schindler Disease, Type I
Generalized amyotrophy OMIM:609241
Spastic Ataxia 5, Autosomal Recessive
Distal amyotrophy, Lower limb muscle weakness, Increased intramyocellular lipid droplets OMIM:614487
Lethal Congenital Contracture Syndrome 5
Congenital contracture, Flexion contracture, Centrally nucleated skeletal muscle fibers OMIM:615368
Optic Atrophy 11
Facial diplegia, Increased variability in muscle fiber diameter, Fiber type grouping OMIM:617302
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2
Skeletal muscle atrophy OMIM:619759
Hyperkalemic Periodic Paralysis
Skeletal muscle atrophy, Flexion contracture, Ophthalmoparesis, Skeletal muscle hypertrophy, Myop... ORPHA:682
Oculogastrointestinal Muscular Dystrophy
External ophthalmoplegia, Skeletal muscle atrophy, Myopathy ORPHA:1876
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Proximal muscle weakness, Fatigable weakness, Myopathy, Distal arthrogry... ORPHA:42
Greig Cephalopolysyndactyly Syndrome
Congenital diaphragmatic hernia ORPHA:380
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Skeletal muscle atrophy, Joint contracture OMIM:617481
Acrocallosal Syndrome
Congenital diaphragmatic hernia ORPHA:36
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Ataxia With Vitamin E Deficiency
Skeletal muscle atrophy, Muscle weakness ORPHA:96
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Distal amyotrophy, Distal muscle weakness, Limb muscle weakness, Proximal muscle weakness OMIM:601152
Lethal Congenital Contracture Syndrome 9
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo... OMIM:616503
Glycogen Storage Disease Xii
Myopathy, Increased variability in muscle fiber diameter, Muscle weakness, Muscle fiber splitting OMIM:611881
Bardet-Biedl Syndrome 22
Obesity, Large for gestational age OMIM:617119
Mitochondrial Complex I Deficiency, Nuclear Type 6
Left ventricular hypertrophy, Skeletal muscle atrophy OMIM:618228
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Skeletal muscle atrophy, Proximal muscle weakness, Limb-girdle muscle weakness, Myopathy, Limb mu... OMIM:112250
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Developmental And Epileptic Encephalopathy 51
Skeletal muscle atrophy, Poor head control, Muscle weakness OMIM:617339
Combined Oxidative Phosphorylation Defect Type 7
Skeletal muscle atrophy, Bulbar palsy, Ophthalmoplegia, Upper limb muscle weakness, Facial dipleg... ORPHA:254930
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Skeletal muscle atrophy, Limb joint contracture OMIM:612079
Marinesco-Sjögren Syndrome
Skeletal muscle atrophy, Myopathy, Muscular dystrophy, Muscle flaccidity, Aplasia/Hypoplasia invo... ORPHA:559
Lissencephaly 8
Skeletal muscle atrophy OMIM:617255
Charcot-Marie-Tooth Disease, Type 4D
Distal amyotrophy, Distal muscle weakness, Claw hand deformity, Proximal muscle weakness OMIM:601455
Kearns-Sayre Syndrome
Progressive external ophthalmoplegia, Ragged-red muscle fibers, Muscle weakness OMIM:530000
Autosomal Recessive Spastic Paraplegia Type 5A
Upper limb muscle weakness, Lower limb amyotrophy, Lower limb muscle weakness, Upper limb amyotrophy ORPHA:100986
Pontocerebellar Hypoplasia, Type 16
Skeletal muscle atrophy, Limb hypertonia OMIM:619527
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Myopathy, Increased variability in muscle fiber diameter OMIM:604377
Cog8-Cdg
Skeletal muscle atrophy, Poor head control ORPHA:95428
Choreoacanthocytosis
Skeletal muscle atrophy, Limb muscle weakness OMIM:200150
L1 Syndrome
Skeletal muscle atrophy ORPHA:275543
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:85329
Spinocerebellar Ataxia 36
Skeletal muscle atrophy, Muscle weakness OMIM:614153
Allan-Herndon-Dudley Syndrome
Skeletal muscle atrophy, Poor head control, Flexion contracture, Generalized muscle weakness, Lim... ORPHA:59
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Skeletal muscle atrophy, Joint contracture OMIM:615419
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia ORPHA:1166
Amyotrophic Lateral Sclerosis 4, Juvenile
Distal amyotrophy, Distal muscle weakness OMIM:602433
Ataxia-Telangiectasia-Like Disorder 2
Progressive muscle weakness, Joint contracture, Muscle weakness, Congenital diaphragmatic hernia OMIM:615919
Leukodystrophy, Hypomyelinating, 5
Lower limb amyotrophy, Lower limb muscle weakness OMIM:610532
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Inguinal hernia, Large for gestational age, Overgrowth, Umbilical hernia, Enlarged kidney OMIM:618272
Combined Oxidative Phosphorylation Deficiency 18
Skeletal muscle atrophy OMIM:615578
Spastic Paraplegia 9B, Autosomal Recessive
Skeletal muscle atrophy, Foot dorsiflexor weakness OMIM:616586
Spinal muscular atrophy, type I, with congenital bone fractures
Decreased muscle mass, Flexion contracture, Acute infantile spinal muscular atrophy, Generalized ... OMIM:271225
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Arthrogryposis multiplex congenita OMIM:607598
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Distal amyotrophy ORPHA:2821
Oxoglutaric Aciduria
Skeletal muscle atrophy ORPHA:31
Snakebite Envenomation
Respiratory paralysis, Rhabdomyolysis, Muscle fiber necrosis ORPHA:449285
Spinocerebellar Ataxia 1
Skeletal muscle atrophy, Bulbar palsy, Distal muscle weakness, Proximal muscle weakness, Distal a... OMIM:164400
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Increased body mass index, Increased body weight OMIM:614450
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Skeletal muscle atrophy OMIM:618603
Linear Skin Defects With Multiple Congenital Anomalies 2
Congenital diaphragmatic hernia OMIM:300887
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Poor head control, Hypoplasia of the musculature, Ankle flexion contracture, Res... ORPHA:2020
Congenital Disorder Of Glycosylation, Type Iio
Skeletal muscle atrophy OMIM:616828
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Skeletal muscle atrophy, Generalized amyotrophy, Muscle weakness, Limb hypertonia OMIM:617710
Neuromuscular Oculoauditory Syndrome
Poor head control, Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber necrosis, EMG:... OMIM:618733
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Distal lower limb amyotrophy, Distal amyotrophy, Multiple joint contractures ORPHA:320406
Multicentric Carpotarsal Osteolysis Syndrome
Congenital diaphragmatic hernia OMIM:166300
Idiopathic Camptocormia
Myositis, Fatigable weakness of skeletal muscles, Fatty replacement of skeletal muscle, Abnormal ... ORPHA:1320
X-Linked Intellectual Disability, Seemanova Type
Skeletal muscle atrophy, Hypoplasia of the musculature ORPHA:85323
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Skeletal muscle atrophy, Limb muscle weakness, Flexion contracture, Facial diplegia OMIM:218000
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Abnormal pulmonary valve morphology, Large for gestational age, Overgrowth, Pulmonic stenosis, Ta... ORPHA:137634
Neuraminidase Deficiency
Skeletal muscle atrophy, Muscle weakness OMIM:256550
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Skeletal muscle atrophy, Poor head control OMIM:245400
Overlap Myositis
Perifascicular muscle fiber atrophy, Proximal muscle weakness in upper limbs, Distal lower limb m... ORPHA:206572
Richards-Rundle Syndrome
Distal amyotrophy ORPHA:1399
Polymyositis
Proximal muscle weakness, Abnormal muscle fiber morphology ORPHA:732
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Skeletal muscle atrophy, Distal muscle weakness ORPHA:168563
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Spinocerebellar Ataxia Type 1
Skeletal muscle atrophy, Ophthalmoparesis, Abnormality of masticatory muscle ORPHA:98755
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Skeletal muscle hypertrophy, Macroglossia, Congenital contracture, Muscular dystrophy, Increased ... OMIM:613150
Joubert Syndrome 32
Hypertrophic cardiomyopathy, Tall stature, Large for gestational age OMIM:617757
Myotubular Myopathy With Abnormal Genital Development
Myopathy, Centrally nucleated skeletal muscle fibers OMIM:300219
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Multiple joint contractures, Respiratory insufficiency due to muscle wea... OMIM:618291
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Skeletal muscle atrophy ORPHA:1933
Pontocerebellar Hypoplasia, Type 11
Skeletal muscle atrophy OMIM:617695
Schisis Association
Congenital diaphragmatic hernia ORPHA:63862
Proteasome-Associated Autoinflammatory Syndrome 4
Skeletal muscle atrophy, Myositis, Flexion contracture OMIM:619183
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Elbow flexion contracture, Congenital diaphragmatic hernia OMIM:618022
Poliomyelitis
Skeletal muscle atrophy, Bulbar palsy, Hypoplasia of the musculature, Abnormal skeletal muscle mo... ORPHA:2912
Lethal Congenital Contracture Syndrome Type 1
Skeletal muscle atrophy ORPHA:1486
Machado-Joseph Disease Type 3
Distal lower limb amyotrophy, Skeletal muscle atrophy, Progressive external ophthalmoplegia, Dist... ORPHA:276244
Hypermethioninemia Due To Adenosine Kinase Deficiency
Skeletal muscle atrophy, Muscle weakness OMIM:614300
Schwartz-Jampel Syndrome, Type 1
Hip contracture, Skeletal muscle atrophy, Shoulder flexion contracture, Quadriceps muscle weaknes... OMIM:255800
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Cebalid Syndrome
Congenital diaphragmatic hernia OMIM:618774
Coenzyme Q10 Deficiency, Primary, 1
Progressive muscle weakness, Ragged-red muscle fibers, Decreased level of coenzyme Q10 in skeleta... OMIM:607426
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Type 2 muscle fiber predominance, Congenital contracture, Type 1 muscle fiber atrophy, Type 2 mus... OMIM:619036
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Autosomal Dominant Optic Atrophy, Classic Form
Skeletal muscle atrophy, Scapular winging, Ophthalmoplegia, Myopathy, Weakness of facial musculature ORPHA:98673
Mitochondrial Complex I Deficiency, Nuclear Type 37
Skeletal muscle atrophy, Poor head control OMIM:619272
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Niemann-Pick Disease, Type A
Skeletal muscle atrophy, Muscle weakness OMIM:257200
Carnitine Palmitoyl Transferase 1A Deficiency
Skeletal muscle atrophy ORPHA:156
Machado-Joseph Disease Type 1
Distal lower limb amyotrophy, Skeletal muscle atrophy, Supranuclear ophthalmoplegia, Progressive ... ORPHA:276238
Machado-Joseph Disease Type 2
Distal lower limb amyotrophy, Skeletal muscle atrophy, Supranuclear ophthalmoplegia, Progressive ... ORPHA:276241
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Obesity OMIM:614651
Combined Oxidative Phosphorylation Deficiency 55
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Proximal muscle weakness, Type 2 m... OMIM:619743
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia ORPHA:2143
Autosomal Recessive Spastic Paraplegia Type 9B
Skeletal muscle atrophy, Muscle weakness ORPHA:447760
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Skeletal muscle atrophy OMIM:618862
Flynn-Aird Syndrome
Skeletal muscle atrophy ORPHA:2047
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Ophthalmoplegia, Facia... OMIM:612073
Lethal Congenital Contracture Syndrome 10
Macroglossia, Increased variability in muscle fiber diameter, Torticollis OMIM:617022
Ataxia-Telangiectasia
Skeletal muscle atrophy ORPHA:100
Serkal Syndrome
Congenital diaphragmatic hernia ORPHA:139466
Thyrotoxic Periodic Paralysis
Abnormal muscle fiber morphology, Rhabdomyolysis, Ophthalmoparesis, Episodic flaccid weakness, Re... ORPHA:79102
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Left ventricular noncompaction, Muscular dystrophy ORPHA:1344
Early-Onset Autosomal Dominant Alzheimer Disease
Deposits immunoreactive to beta-amyloid protein ORPHA:1020
Ferguson-Bonni Neurodevelopmental Syndrome
Congenital diaphragmatic hernia OMIM:619699
Sialidosis Type 1
Skeletal muscle atrophy, Muscle weakness ORPHA:812
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Skeletal muscle atrophy, Muscle weakness OMIM:615157
Craniofrontonasal Dysplasia
Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:1520
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Macroglossia, Muscular ... ORPHA:258
Combined Oxidative Phosphorylation Deficiency 12
Ophthalmoplegia, Ragged-red muscle fibers, Poor head control OMIM:614924
Autosomal Recessive Spastic Paraplegia Type 78
Skeletal muscle atrophy, Facial myokymia ORPHA:513436
Tonne-Kalscheuer Syndrome
Congenital diaphragmatic hernia OMIM:300978
Proximal 16P11.2 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:370079
Congenital Myopathy 13
Skeletal muscle atrophy, Proximal muscle weakness, Fatty replacement of skeletal muscle, Gowers s... OMIM:255995
Cooper-Jabs Syndrome
Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:1488
Autosomal Recessive Ataxia, Beauce Type
Skeletal muscle atrophy, Lower limb muscle weakness, Ophthalmoparesis ORPHA:88644
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia ORPHA:284180
Renpenning Syndrome
Skeletal muscle atrophy ORPHA:3242
Carey-Fineman-Ziter Syndrome 1
Skeletal muscle atrophy, Distal muscle weakness, Facial palsy, Hypoplasia of the musculature, Pro... OMIM:254940
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Small for gestational age, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ... ORPHA:555874
Non-Syndromic Posterior Hypospadias
Congenital diaphragmatic hernia ORPHA:95706
Gillessen-Kaesbach-Nishimura Syndrome
Flexion contracture, Congenital diaphragmatic hernia OMIM:263210
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Progressive external ophthalmoplegia, Distal muscle weakness, Ragged-red muscle fibers, Ophthalmo... OMIM:603041
Multiple Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Scapular winging, Poor head control, Proximal muscle weakness, Rhabdomyo... ORPHA:26791
13Q12.3 Microdeletion Syndrome
Congenital diaphragmatic hernia, Camptodactyly ORPHA:412035
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight ORPHA:589905
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Flexion contracture ORPHA:75496
Leukodystrophy, Hypomyelinating, 10
Skeletal muscle atrophy OMIM:616420
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy OMIM:613154
Sandhoff Disease
Macroglossia, Skeletal muscle atrophy, Muscle weakness OMIM:268800
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Skeletal muscle atrophy, Flexion contracture, Abnormal muscle glycogen content, Myopathy ORPHA:367
Sézary Syndrome
Skeletal muscle atrophy ORPHA:3162
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight ORPHA:276608
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Congenital diaphragmatic hernia OMIM:606164
Triosephosphate Isomerase Deficiency
Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakness, Progressive muscle wea... OMIM:615512
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Knee flexion contracture OMIM:603387
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Decreased muscle mass, Generalized muscle weakness, Elbow flexion contracture, EMG: myopathic abn... ORPHA:1900
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Skeletal muscle atrophy, Ophthalmoplegia, Flexion contracture OMIM:300243
Pericardial And Diaphragmatic Defect
Aplasia of the left hemidiaphragm, Congenital diaphragmatic hernia ORPHA:2847
Spinocerebellar Ataxia Type 36
Skeletal muscle atrophy ORPHA:276198
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia ORPHA:250999
Borjeson-Forssman-Lehmann Syndrome
Camptodactyly of toe, Skeletal muscle atrophy ORPHA:127
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Ragged-red muscle fibers, Flexion contracture, Rhabdomyolysis, Increased... ORPHA:17
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Hiatus hernia, Overweight, Atrial septal defect, Umbilical hernia OMIM:619769
Ruijs-Aalfs Syndrome
Skeletal muscle atrophy, Elbow flexion contracture OMIM:616200
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Congenital diaphragmatic hernia ORPHA:2063
Autosomal Dominant Progressive External Ophthalmoplegia
Facial palsy, External ophthalmoplegia, Quadriceps muscle weakness, Ophthalmoplegia, Ragged-red m... ORPHA:254892
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Limb-girdle muscle weakness, Progressive muscle weakness, Rhabdomyolysis... ORPHA:79240
Carey-Fineman-Ziter Syndrome
Skeletal muscle atrophy, Aplasia of the pectoralis major muscle, Myopathy, Facial palsy ORPHA:1358
Walker-Warburg Syndrome
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystroph... ORPHA:899
Tay-Sachs Disease
Skeletal muscle atrophy, Distal muscle weakness, Lower limb muscle weakness, Quadriceps muscle at... ORPHA:845
Congenital Myopathy 21 With Early Respiratory Failure
EMG: myopathic abnormalities, Diaphragmatic weakness OMIM:620326
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Skeletal muscle atrophy OMIM:620089
15Q24 Microdeletion Syndrome
Congenital diaphragmatic hernia ORPHA:94065
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Skeletal muscle atrophy, Flexion contracture, Calf muscle hypertrophy, Congenital muscular dystro... OMIM:253800
Acth-Independent Macronodular Adrenal Hyperplasia
Skeletal muscle atrophy OMIM:219080
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Skeletal muscle atrophy, Poor head control, Myopathy, Type 1 muscle fiber predominance, Muscle we... OMIM:614557
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Increased body weight OMIM:274300
Hereditary Folate Malabsorption
Skeletal muscle atrophy ORPHA:90045
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased body weight OMIM:615954
Fetal Alcohol Syndrome
Congenital diaphragmatic hernia ORPHA:1915
Bardet-Biedl Syndrome
Skeletal muscle atrophy ORPHA:110
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Congenital diaphragmatic hernia ORPHA:1120
Craniorachischisis
Congenital diaphragmatic hernia ORPHA:63260
Pontocerebellar Hypoplasia, Type 7
Skeletal muscle atrophy, Muscle weakness OMIM:614969
Primary Triglyceride Deposit Cardiomyovasculopathy
Increased muscle lipid content, Abnormality of the calf musculature, Skeletal myopathy, Abnormali... ORPHA:565612
Smith-Magenis Syndrome
Increased body weight, Abnormal heart morphology OMIM:182290
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Skeletal muscle atrophy, Flexion contracture, Limb hypertonia ORPHA:481152
Wilson Disease
Hepatomegaly, Splenomegaly, Increased body weight, Weight loss, Failure to thrive ORPHA:905
Pigmented Nodular Adrenocortical Disease, Primary, 4
Dorsocervical fat pad, Increased body weight OMIM:615830
Adenylosuccinase Deficiency
Skeletal muscle atrophy OMIM:103050
Rett Syndrome
Skeletal muscle atrophy OMIM:312750
Autosomal Recessive Spastic Paraplegia Type 20
Upper limb muscle weakness, Skeletal muscle atrophy, Distal amyotrophy ORPHA:101000
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Muscle weakness OMIM:617193
Refsum Disease
Skeletal muscle atrophy ORPHA:773
Zaki Syndrome
Congenital diaphragmatic hernia OMIM:619648
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Skeletal muscle atrophy, Muscle weakness, Proximal muscle weakness OMIM:615895
Intellectual Disability-Strabismus Syndrome
Achilles tendon contracture, Joint contracture of the hand, Congenital finger flexion contracture... ORPHA:363528
Trisomy 17P
Macroglossia, Skeletal muscle atrophy, Flexion contracture ORPHA:261290
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia ORPHA:2075
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Type 2 muscle fiber predominance, Skeletal muscle atrophy OMIM:615471
Emanuel Syndrome
Joint contracture, Torticollis, Congenital diaphragmatic hernia OMIM:609029
Oculocerebrocutaneous Syndrome
Congenital diaphragmatic hernia ORPHA:1647
Camurati-Engelmann Disease
Skeletal muscle atrophy, Muscle weakness OMIM:131300
Matthew-Wood Syndrome
Congenital diaphragmatic hernia ORPHA:2470
Trisomy 1Q
Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:261344
Autosomal Recessive Spondylocostal Dysostosis
Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:2311
Blue Diaper Syndrome
Increased body weight ORPHA:94086
Diamond-Blackfan Anemia 10
Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia OMIM:613309
Donnai-Barrow Syndrome
Diaphragmatic eventration, Congenital diaphragmatic hernia OMIM:222448
Donohue Syndrome
Skeletal muscle atrophy OMIM:246200
Osteogenesis Imperfecta, Type Xiii
Skeletal muscle atrophy OMIM:614856
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia ORPHA:1834
3P25.3 Microdeletion Syndrome
Skeletal muscle atrophy, Knee flexion contracture ORPHA:435638
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Increased body weight, Large for gestational age ORPHA:263455
Cutis Laxa, Autosomal Recessive, Type Ia
Congenital diaphragmatic hernia OMIM:219100
Moebius Syndrome
Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Aplasia of the pectoralis major muscle, A... ORPHA:570
Mitochondrial Complex I Deficiency, Nuclear Type 1
Skeletal muscle atrophy, Poor head control, Ragged-red muscle fibers, Increased intramyocellular ... OMIM:252010
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Muscle weakness ORPHA:496641
Seckel Syndrome 9
Congenital diaphragmatic hernia OMIM:616777
Lowry-Maclean Syndrome
Congenital diaphragmatic hernia ORPHA:2409
Sting-Associated Vasculopathy, Infantile-Onset
Skeletal muscle atrophy, Myositis OMIM:615934
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Skeletal muscle atrophy, Flexion contracture OMIM:300232
12Q14 Microdeletion Syndrome
Skeletal muscle atrophy ORPHA:94063
Chromosome 1Q41-Q42 Deletion Syndrome
Congenital diaphragmatic hernia OMIM:612530
Joubert Syndrome 39
Overweight, Hypoplastic left heart, Joint contracture of the 5th finger OMIM:619562
Frontometaphyseal Dysplasia 1
Skeletal muscle atrophy, Scapular winging, Interphalangeal joint contracture of finger, Hypoplasi... OMIM:305620
Arthrogryposis And Ectodermal Dysplasia
Skeletal muscle atrophy, Joint contracture of the hand, Arthrogryposis multiplex congenita, Campt... OMIM:601701
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Progressive muscle weakness, Increased sarcoplasmic glycogen ORPHA:264580
Rett Syndrome
Skeletal muscle atrophy ORPHA:778
Emanuel Syndrome
Multiple joint contractures, Congenital diaphragmatic hernia ORPHA:96170
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Skeletal muscle atrophy OMIM:210210
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital diaphragmatic hernia OMIM:611812
Bannayan-Riley-Ruvalcaba Syndrome
Skeletal muscle atrophy, Abdominal wall muscle weakness, Myopathy, Muscle weakness ORPHA:109
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia ORPHA:261197
7Q31 Microdeletion Syndrome
Skeletal muscle atrophy, Torticollis ORPHA:251061
Multiple Pterygium-Malignant Hyperthermia Syndrome
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Camptodactyly of finger, Congenital ... ORPHA:2215
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Skeletal muscle atrophy OMIM:615802
Melas
Progressive external ophthalmoplegia, Ragged-red muscle fibers, Myopathy, Abnormal mitochondria i... ORPHA:550
Japanese Encephalitis
Skeletal muscle atrophy, Facial palsy, Elbow flexion contracture, Distal upper limb muscle weakne... ORPHA:79139
2Q37 Microdeletion Syndrome
Congenital diaphragmatic hernia ORPHA:1001
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Distal muscle weakness, Neck flexor weakness, Proximal muscle weakness, ... ORPHA:273
Recon Progeroid Syndrome
Skeletal muscle atrophy OMIM:620370
Coffin-Lowry Syndrome
Skeletal muscle atrophy, Muscle weakness ORPHA:192
Halperin-Birk Syndrome
Flexion contracture, Congenital diaphragmatic hernia OMIM:618651
Mitochondrial Dna-Associated Leigh Syndrome
Ragged-red muscle fibers, Muscle weakness, Ophthalmoparesis ORPHA:255210
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy OMIM:219090
Sotos Syndrome
Ventricular septal defect, Muscular ventricular septal defect, Increased body weight, Overgrowth,... OMIM:117550
Congenital Heart Defects And Skeletal Malformations Syndrome
Congenital diaphragmatic hernia, Camptodactyly OMIM:617602
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Distal muscle weakness, Ophthalmoplegia, My... ORPHA:506
Narcolepsy 7
Obesity OMIM:614250
Double Outlet Left Ventricle
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Bicuspi... ORPHA:3427
Graft Versus Host Disease
Skeletal muscle atrophy, Myositis, Dupuytren contracture ORPHA:39812
Mitochondrial Complex I Deficiency, Nuclear Type 32
Skeletal muscle atrophy OMIM:618252
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia OMIM:313850
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia ORPHA:251071
Thakker-Donnai Syndrome
Congenital diaphragmatic hernia ORPHA:1780
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia ORPHA:958
White-Sutton Syndrome
Facial hypotonia, Congenital diaphragmatic hernia OMIM:616364
Congenital Analbuminemia
Small for gestational age, Lipodystrophy, Obesity ORPHA:86816
Localized Scleroderma
Skeletal muscle atrophy, Flexion contracture, Myopathy ORPHA:90289
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Multiple System Atrophy 1, Susceptibility To
Skeletal muscle atrophy OMIM:146500
Tbck-Related Intellectual Disability Syndrome
Macroglossia, Skeletal muscle atrophy, Diastasis recti, Progressive muscle weakness ORPHA:488632
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Skeletal muscle atrophy ORPHA:1969
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Weakness of facial musculature, Fle... OMIM:265000
Vacterl/Vater Association
Congenital diaphragmatic hernia ORPHA:887
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Skeletal muscle atrophy, Limb joint contracture, Flexion contracture, Lower limb hypertonia, Gene... OMIM:301072
Denys-Drash Syndrome
Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia OMIM:194080
Pentalogy Of Cantrell
Congenital diaphragmatic hernia ORPHA:1335
Neu-Laxova Syndrome
Skeletal muscle atrophy, Flexion contracture, Muscular dystrophy, Aplasia/Hypoplasia involving th... ORPHA:2671
Mosaic Trisomy 1
Elbow flexion contracture, Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:1692
Immunodeficiency 31C
Skeletal muscle atrophy, Muscle weakness OMIM:614162
Insulinoma
Increased body weight ORPHA:97279
Autosomal Recessive Multiple Pterygium Syndrome
Skeletal muscle atrophy, Aplasia/Hypoplasia of the abdominal wall musculature, Arthrogryposis mul... ORPHA:2990
Werner Syndrome
Skeletal muscle atrophy ORPHA:902
Oligomeganephronia
Congenital diaphragmatic hernia ORPHA:2260
Farber Disease
Skeletal muscle atrophy, Flexion contracture ORPHA:333
Arterial Tortuosity Syndrome
Flexion contracture, Congenital diaphragmatic hernia OMIM:208050
White-Sutton Syndrome
Facial hypotonia, Congenital diaphragmatic hernia ORPHA:468678
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Skeletal muscle atrophy, Distal muscle weakness, Progressive muscle weakness OMIM:256810
Chromosome 15Q25 Deletion Syndrome
Congenital diaphragmatic hernia OMIM:614294
Congenital Disorder Of Glycosylation, Type Iie
Skeletal muscle atrophy OMIM:608779
Perlman Syndrome
Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic hernia OMIM:267000
Microphthalmia, Syndromic 9
Diaphragmatic eventration, Congenital diaphragmatic hernia OMIM:601186
Mycophenolate Mofetil Embryopathy
Congenital diaphragmatic hernia ORPHA:268249
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Left ventricular hypertrophy, Elbow flexion contracture, Congenital diaphragmatic hernia OMIM:245600
Lysinuric Protein Intolerance
Skeletal muscle atrophy, Muscle weakness OMIM:222700
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Congenital diaphragmatic hernia OMIM:614080
Fryns Syndrome
Congenital diaphragmatic hernia ORPHA:2059
Tick-Borne Encephalitis
Fatigable weakness of respiratory muscles, Skeletal muscle atrophy, Ophthalmoplegia, Facial palsy ORPHA:297
Magel2-Related Prader-Willi-Like Syndrome
Flexion contracture, Increased body weight, Abdominal obesity, Atrial septal defect, Failure to t... ORPHA:398069
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Rhabdomyolysis, Ragged-red muscle fibers, Muscle weakness OMIM:124000
Schwartz-Jampel Syndrome
Hip contracture, Skeletal muscle atrophy, Shoulder flexion contracture, Skeletal muscle hypertrop... ORPHA:800
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Abdominal obesity, Dorsocervical fat pad, Increased body weight ORPHA:189427
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Skeletal muscle atrophy, Flexion contracture ORPHA:89842
Duane Retraction Syndrome
Oculomotor nerve palsy, Skeletal muscle atrophy, Camptodactyly ORPHA:233
Nijmegen Breakage Syndrome
Skeletal muscle atrophy, Muscle weakness, Rhabdomyosarcoma ORPHA:647
Focal Dermal Hypoplasia
Camptodactyly of finger, Diastasis recti, Congenital diaphragmatic hernia ORPHA:2092
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Congenital diaphragmatic hernia OMIM:616546
Craniofrontonasal Syndrome
Congenital diaphragmatic hernia OMIM:304110
Trisomy 18
Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:3380
Marden-Walker Syndrome
Skeletal muscle atrophy, Camptodactyly of finger, Muscular dystrophy, Arthrogryposis multiplex co... ORPHA:2461
Developmental Delay With Or Without Dysmorphic Facies And Autism
Congenital diaphragmatic hernia OMIM:618454
Leprosy
Skeletal muscle atrophy, Muscle weakness, Foot dorsiflexor weakness ORPHA:548
Adrenocortical Carcinoma
Increased body weight, Weight loss ORPHA:1501
Meacham Syndrome
Congenital diaphragmatic hernia ORPHA:3097
Holoprosencephaly
Muscle weakness, Congenital diaphragmatic hernia ORPHA:2162
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Myopathy, Muscle weakness ORPHA:536545
Aymé-Gripp Syndrome
Congenital diaphragmatic hernia, Camptodactyly ORPHA:1272
Mullegama-Klein-Martinez Syndrome
Facial palsy, Congenital diaphragmatic hernia OMIM:301022
Acrorenal-Mandibular Syndrome
Elbow flexion contracture, Congenital diaphragmatic hernia OMIM:200980
Camurati-Engelmann Disease
Skeletal muscle atrophy, Facial palsy, Muscle weakness ORPHA:1328
Linear Skin Defects With Multiple Congenital Anomalies 1
Congenital diaphragmatic hernia OMIM:309801
Cornelia De Lange Syndrome 1
Elbow flexion contracture, Congenital diaphragmatic hernia OMIM:122470
7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:96121
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Abnormality of body weight, Enlarged polycystic ovaries, Increased body weight,... ORPHA:2298
Diets-Jongmans Syndrome
Congenital diaphragmatic hernia OMIM:618846
Choreoacanthocytosis
Distal muscle weakness, Peroneal muscle atrophy, Myopathy, Distal amyotrophy, Muscle fiber atrophy ORPHA:2388
Iniencephaly
Arthrogryposis multiplex congenita, Congenital diaphragmatic hernia ORPHA:63259
Opitz Gbbb Syndrome
Congenital diaphragmatic hernia ORPHA:2745
Proteasome-Associated Autoinflammatory Syndrome 1
Skeletal muscle atrophy, Camptodactyly of finger, Flexion contracture, Elbow flexion contracture,... OMIM:256040
Pagod Syndrome
Congenital diaphragmatic hernia ORPHA:991
Idiopathic Hypereosinophilic Syndrome
Skeletal muscle atrophy, Muscle weakness ORPHA:3260
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Congenital diaphragmatic hernia OMIM:617641
Monosomy 9P
Congenital diaphragmatic hernia ORPHA:261112
Tetraamelia Syndrome 1
Congenital diaphragmatic hernia OMIM:273395
Kabuki Syndrome
Congenital diaphragmatic hernia ORPHA:2322
Simpson-Golabi-Behmel Syndrome
Macroglossia, Aplasia/Hypoplasia of the abdominal wall musculature, Camptodactyly of finger, Cong... ORPHA:373
Acrofacial Dysostosis 1, Nager Type
Congenital diaphragmatic hernia OMIM:154400
Cutis Laxa, Autosomal Recessive, Type Ib
Congenital diaphragmatic hernia OMIM:614437
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Contracture of the proximal interphalangeal joint of the 3rd finger, Congenital diaphragmatic her... OMIM:301044
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Skeletal muscle atrophy, Flexion contracture, Camptodactyly OMIM:309590
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Flexion contracture ORPHA:90324
Pontocerebellar Hypoplasia Type 7
Skeletal muscle atrophy, Fatigable weakness of skeletal muscles ORPHA:284339
Heart Defects, Congenital, And Other Congenital Anomalies
Aplasia of the left hemidiaphragm, Congenital diaphragmatic hernia OMIM:600001
Pierson Syndrome
Skeletal muscle atrophy OMIM:609049
Distal Deletion 15Q
Congenital diaphragmatic hernia ORPHA:1596
Wolf-Hirschhorn Syndrome
Congenital diaphragmatic hernia ORPHA:280
Smith-Lemli-Opitz Syndrome
Congenital diaphragmatic hernia ORPHA:818
Singleton-Merten Syndrome 1
Muscle fiber atrophy, Tendon rupture, Muscle weakness OMIM:182250
Limb Body Wall Complex
Diastasis recti, Congenital diaphragmatic hernia ORPHA:2369
Poland Syndrome
Aplasia of the pectoralis major muscle, Congenital diaphragmatic hernia ORPHA:2911
Cushing Disease
Truncal obesity, Abdominal obesity, Dorsocervical fat pad, Increased body weight ORPHA:96253
Hydrolethalus Syndrome 1
Agenesis of the diaphragm OMIM:236680
C Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic hernia ORPHA:1308
Hellp Syndrome
Increased body weight ORPHA:244242
Beckwith-Wiedemann Syndrome
Diastasis recti, Rhabdomyosarcoma, Congenital diaphragmatic hernia, Leiomyosarcoma, Macroglossia ORPHA:116
Cockayne Syndrome
Contractures of the large joints, Congenital contracture, Skeletal muscle atrophy, Limb hypertonia ORPHA:191
Cystinosis, Nephropathic
Skeletal muscle atrophy, Myopathy OMIM:219800
Microphthalmia With Linear Skin Defects Syndrome
Congenital diaphragmatic hernia ORPHA:2556
Marfan Syndrome
Skeletal muscle atrophy ORPHA:558
Cardiospondylocarpofacial Syndrome
Congenital diaphragmatic hernia OMIM:157800
Leprechaunism
Skeletal muscle atrophy ORPHA:508
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Congenital diaphragmatic hernia ORPHA:2255
Stickler Syndrome
Macroglossia, Skeletal muscle atrophy ORPHA:828
Atypical Werner Syndrome
Calf muscle hypertrophy, Abnormality of the Achilles tendon, Skeletal muscle atrophy ORPHA:79474
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia OMIM:618280
Focal Dermal Hypoplasia
Diastasis recti, Congenital diaphragmatic hernia OMIM:305600
Coffin-Siris Syndrome 1
Congenital diaphragmatic hernia OMIM:135900
Cornelia De Lange Syndrome
Congenital diaphragmatic hernia ORPHA:199
Simpson-Golabi-Behmel Syndrome, Type 1
Facial hypotonia, Diastasis recti, Congenital diaphragmatic hernia, Macroglossia, Right ventricul... OMIM:312870
Carney Complex
Dorsocervical fat pad, Cardiac myxoma, Increased body weight, Abdominal obesity, Tall stature ORPHA:1359
Witteveen-Kolk Syndrome
Congenital diaphragmatic hernia, Contracture of the distal interphalangeal joint of the 4th finger OMIM:613406
Cushing Syndrome Due To Ectopic Acth Secretion
Dorsocervical fat pad, Increased body weight, Weight loss, Truncal obesity, Abdominal obesity ORPHA:99889
Primrose Syndrome
Hip contracture, Skeletal muscle atrophy, Flexion contracture, Knee flexion contracture, Distal a... OMIM:259050
Pallister-Killian Syndrome
Macroglossia, Flexion contracture, Camptodactyly of 2nd-5th fingers, Congenital diaphragmatic hernia 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 Dnajb4

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 Dnajb4.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure. Acta neuropathologica (October 2022) Dnajb4em1(IMPC)J PMC9812937

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Dnajb4tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Dnajb4tm264488(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Dnajb4tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Dnajb4em1(IMPC)J Exon Deletion Mice

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