Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
neuron-derived neurotrophic factor
Synonyms:
A930038C07Rik,  epidermacan

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypogonadotropic Hypogonadism 25 With Anosmia
OMIM:618841
Kallmann Syndrome
ORPHA:478

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Spinal Muscular Atrophy, Scapuloperoneal
Peroneal muscle atrophy, Scapular muscle atrophy, Spinal muscular atrophy OMIM:271220
Spinal Muscular Atrophy, Facioscapulohumeral Type
Skeletal muscle atrophy, Spinal muscular atrophy OMIM:182970
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6
Generalized limb muscle atrophy, Scapular winging, Proximal lower limb amyotrophy, Facial palsy, ... ORPHA:219
Miyoshi Myopathy
Proximal muscle weakness in lower limbs, Quadriceps muscle weakness, Shoulder girdle muscle weakn... ORPHA:45448
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 5
Distal amyotrophy, Upper limb muscle weakness, Thenar muscle weakness, First dorsal interossei mu... OMIM:600794
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Charcot-Marie-Tooth Disease, Axonal, Type 2D
Distal amyotrophy, Upper limb muscle weakness, Thenar muscle weakness, First dorsal interossei mu... OMIM:601472
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy
Proximal muscle weakness in lower limbs, Quadriceps muscle weakness, Distal lower limb amyotrophy... ORPHA:482601
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Proximal lower limb am... OMIM:158600
Lethal Congenital Contracture Syndrome 4
Distal arthrogryposis, Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture OMIM:614915
Spastic Paraplegia 77, Autosomal Recessive
Lower limb amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness OMIM:617046
Muscular Atrophy, Malignant Neurogenic
Skeletal muscle atrophy OMIM:158650
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 5
Distal lower limb amyotrophy, Foot dorsiflexor weakness, Spinal muscular atrophy OMIM:614881
Spinal Muscular Atrophy With Microcephaly And Impaired Intellectual Development
Proximal spinal muscular atrophy OMIM:271110
Lethal Congenital Contracture Syndrome 3
Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Multiple joint contractures OMIM:611369
Neuronopathy, Distal Hereditary Motor, X-Linked
Distal amyotrophy, Spinal muscular atrophy OMIM:300489
Charcot-Marie-Tooth Disease, Axonal, Type 2Q
Distal lower limb muscle weakness, Skeletal muscle atrophy OMIM:615025
Spastic Paraplegia 38, Autosomal Dominant
Distal amyotrophy, Lower limb muscle weakness, Thenar muscle weakness, First dorsal interossei mu... OMIM:612335
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 8
Distal amyotrophy, Calf muscle hypertrophy OMIM:618135
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3
Distal lower limb muscle weakness, Interosseus muscle atrophy, Distal amyotrophy, Spinal muscular... OMIM:607088
Charcot-Marie-Tooth Disease, Axonal, Type 2U
Distal amyotrophy, Foot dorsiflexor weakness, Hand muscle atrophy, Hand muscle weakness OMIM:616280
Nonaka Myopathy
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal lower... OMIM:605820
Myopathy, Distal, With Rimmed Vacuoles
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... OMIM:617158
Charcot-Marie-Tooth Disease, Axonal, Type 2Dd
Distal amyotrophy, Foot dorsiflexor weakness OMIM:618036
Myopathy, Distal, 4
Skeletal muscle atrophy, Thenar muscle weakness, Distal lower limb amyotrophy, Distal upper limb ... OMIM:614065
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Myopathy, Weakness of facial musculature, Distal lower limb m... OMIM:617030
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Skeletal muscle atrophy OMIM:158500
Inclusion Body Myositis
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... ORPHA:611
Spinal Muscular Atrophy, Segmental
Segmental spinal muscular atrophy, Hand muscle atrophy OMIM:183020
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Distal amyotrophy, Lower limb muscle weakness, Hand muscle weakness, Hand muscle atrophy, Weaknes... OMIM:607641
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Arthrogryposis multiplex congenita, Congenital contracture, Myopathy, Skeletal muscle atrophy OMIM:208100
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Proximal amyotrophy, Distal amyotrophy, Spinal muscular atrophy OMIM:182980
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... OMIM:618655
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Distal amyotrophy, Distal lower limb amyotrophy, Distal upper limb amyotrophy, Foot dorsiflexor w... OMIM:619519
Spinal Muscular Atrophy With Impaired Intellectual Development
Spinal muscular atrophy OMIM:271109
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
Spastic Paraplegia 42, Autosomal Dominant
Skeletal muscle atrophy OMIM:612539
Nemaline Myopathy 6
Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Myopathy, Facial palsy OMIM:609273
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal amyotrophy, Elbow flexion contracture, Nonprogressive muscular atrophy, Distal lower limb ... OMIM:600175
Spinal Muscular Atrophy, Jokela Type
Calf muscle hypertrophy, Skeletal muscle atrophy, Spinal muscular atrophy OMIM:615048
Spinal Muscular Atrophy, Type Iii
Shoulder girdle muscle atrophy, Distal amyotrophy, Lower limb muscle weakness, Shoulder girdle mu... OMIM:253400
Hereditary Myopathy With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... ORPHA:178464
Distal Hereditary Motor Neuropathy Type 5
Distal amyotrophy, Upper limb muscle weakness, Thenar muscle weakness, Distal lower limb muscle w... ORPHA:139536
Spastic Paraplegia 31, Autosomal Dominant
Distal amyotrophy, Skeletal muscle atrophy, Lower limb muscle weakness OMIM:610250
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Lower limb muscle weakness, Spinal muscular atrophy, Triceps weakness, Weakness of the intrinsic ... OMIM:615575
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Shoulder girdle muscle atrophy, Muscular dystrophy, Pelvic girdle muscle atrophy, Proximal amyotr... OMIM:604286
Amyotrophic Lateral Sclerosis Type 4
Skeletal muscle atrophy ORPHA:357043
Autosomal Recessive Spastic Paraplegia Type 63
Skeletal muscle atrophy ORPHA:401805
Spastic Paraplegia 73, Autosomal Dominant
Skeletal muscle atrophy OMIM:616282
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Increased endomysial connective tissue, Lower limb muscl... OMIM:620068
Spinal Muscular Atrophy, Type Iv
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:271150
Spinal Muscular Atrophy, Ryukyuan Type
Proximal amyotrophy, Spinal muscular atrophy OMIM:271200
Facial Onset Sensory And Motor Neuronopathy
Skeletal muscle atrophy ORPHA:85162
Autosomal Recessive Spastic Paraplegia Type 62
Skeletal muscle atrophy, Knee flexion contracture ORPHA:401785
Bethlem Myopathy 1A
Ankle flexion contracture, Skeletal muscle atrophy, Camptodactyly of finger, Elbow flexion contra... OMIM:158810
Myopathy, Sarcoplasmic Body
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620286
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Foot dorsiflexor weakness, Distal amyotrophy, Upper limb muscle weakness OMIM:607678
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Distal lower limb amyotrophy, Skeletal muscle atrophy, Foot dorsiflexor weakness, Lower limb musc... OMIM:613287
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Flexion contracture, Skeletal muscle atrophy OMIM:611105
Legg-Calvé-Perthes Disease
Skeletal muscle atrophy ORPHA:2380
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Distal amyotrophy, Claw hand deformity, Foot dorsiflexor weakness, Spinal muscular atrophy OMIM:605726
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Nonprogressive muscular atrophy, Distal amyotrophy ORPHA:1216
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Foot dorsiflexor weakness, Distal amyotrophy, Upper limb muscle weakness OMIM:302801
Amyotrophic Lateral Sclerosis 28
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... OMIM:620452
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Distal amyotrophy OMIM:605589
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... ORPHA:206549
Dysequilibrium Syndrome
Skeletal muscle atrophy ORPHA:1766
Scapuloperoneal Myopathy, X-Linked Dominant
Forearm supination contracture, Skeletal muscle atrophy, Scapuloperoneal myopathy, Lower limb mus... OMIM:300695
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:620402
Spastic Paraplegia 63, Autosomal Recessive
Skeletal muscle atrophy OMIM:615686
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:617760
Spastic Paraplegia 18B, Autosomal Recessive
Joint contracture, Skeletal muscle atrophy, Lower limb muscle weakness OMIM:611225
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... OMIM:608807
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:254110
Myopathy, Scapulohumeroperoneal
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:616852
Spinal Muscular Atrophy, Type Ii
Skeletal muscle atrophy, Spinal muscular atrophy OMIM:253550
Distal Nebulin Myopathy
Sternocleidomastoid amyotrophy, Nemaline bodies, Ankle flexion contracture, Foot dorsiflexor weak... ORPHA:399103
Extensor Tendons Of Finger Anomalies
Skeletal muscle atrophy, Camptodactyly of finger ORPHA:3294
Spinal Muscular Atrophy, Infantile, James Type
Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Ty... OMIM:619042
Myosclerosis, Autosomal Recessive
Achilles tendon contracture, Facial palsy, Skeletal muscle atrophy, Neck joint contracture OMIM:255600
Congenital Myopathy 23
Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Type 1 muscle fi... OMIM:609285
Muscular Dystrophy, Congenital, 1B
Sternocleidomastoid amyotrophy, Muscular dystrophy, Shoulder girdle muscle weakness, Pectoralis a... OMIM:604801
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Ragged-red muscle fibers, Scapular winging, Weakness of facial musculature OMIM:617069
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253601
Myopathy, Centronuclear, 1
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Type 1 muscl... OMIM:160150
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle... ORPHA:352479
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc... OMIM:608358
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular... OMIM:619566
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... OMIM:613204
Myopathy, Myofibrillar, 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... OMIM:609200
Gemignani Syndrome
Skeletal muscle atrophy ORPHA:2074
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Lower lim... OMIM:254130
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hamstri... OMIM:300696
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:117000
Nathalie Syndrome
Skeletal muscle atrophy OMIM:255990
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Joint contracture of the hand, Distal amyotrophy, Scapuloperoneal amyotrophy, Spinal muscular atr... OMIM:611067
Autosomal Recessive Spastic Paraplegia Type 76
Skeletal muscle atrophy, Lower limb muscle weakness ORPHA:488594
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:2597
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal amyotrophy, Skeletal... OMIM:614302
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:619178
Spastic Paraplegia 62, Autosomal Recessive
Skeletal muscle atrophy OMIM:615681
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Muscular dystrophy, Proximal amyotrophy, Calf muscle hypertrophy, Scapular winging OMIM:601287
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Skeletal muscle atrophy OMIM:205250
Spastic Paraplegia 70, Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture OMIM:620323
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Calf muscle hypoplasia, Distal lower limb amyotrophy, Foot dorsiflexor weakness, Distal lower lim... ORPHA:90103
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Muscular dystrophy, Skeletal muscle atrophy, Triangular tongue, Calf muscle hypertrophy, Macroglo... OMIM:616827
Nemaline Myopathy 5C, Autosomal Dominant
Nemaline bodies, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weakness,... OMIM:620389
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty... OMIM:616313
Facioscapulohumeral Muscular Dystrophy 1
Shoulder girdle muscle atrophy, Scapulohumeral muscular dystrophy, Skeletal muscle atrophy, Shoul... OMIM:158900
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:618129
Spastic Paraplegia 64, Autosomal Recessive
Skeletal muscle atrophy OMIM:615683
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Distal amyotrophy, Upper limb muscle weakness OMIM:607791
Glycogen Storage Disease Ixd
Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes... OMIM:300559
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Rimmed vacuoles, Shoulder girdle muscle atrophy, Pelvic girdle muscle atrophy, Distal amyotrophy,... OMIM:167320
Microcephaly, Seizures, And Developmental Delay
Skeletal muscle atrophy OMIM:613402
Charcot-Marie-Tooth Disease Type 2B1
Peroneal muscle atrophy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Should... ORPHA:98856
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Limb-girdle muscular dystrophy, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrop... ORPHA:206559
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus... OMIM:310440
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:612999
Distal Myotilinopathy
EMG: myopathic abnormalities, Distal amyotrophy, Multiple joint contractures, Abnormal muscle fib... ORPHA:98911
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Muscular dystrophy, Skeletal muscle atrophy, Flexion contracture OMIM:613723
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Distal amyotrophy OMIM:205200
Spastic Paraplegia 45, Autosomal Recessive
Flexion contracture, Skeletal muscle atrophy OMIM:613162
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance... OMIM:605355
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Muscular dystrophy, Lower limb muscle weakness, Myositis, Proximal amyotrophy, Scapular winging, ... OMIM:253600
Pontocerebellar Hypoplasia, Type 1C
Joint contracture, Skeletal muscle atrophy, Spinal muscular atrophy OMIM:616081
Myopathy, Tubular Aggregate, 1
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Myopathy, Weakn... OMIM:160565
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253700
Neuropathy, Congenital Hypomyelinating, 2
Distal amyotrophy, Facial diplegia, Skeletal muscle atrophy OMIM:618184
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Muscular dystrophy, Proximal amyotrophy OMIM:612998
Myopathy, Distal, 3
Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, EMG: myopa... OMIM:610099
Nemaline Myopathy 2
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber splitting, Nemaline... OMIM:256030
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated muscle fiber... OMIM:608340
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... OMIM:616924
Rigid Spine Syndrome
Skeletal muscle atrophy, Elbow flexion contracture, Hamstring contractures, Hip contracture, Myop... ORPHA:97244
Distal Anoctaminopathy
Proximal muscle weakness in upper limbs, Distal amyotrophy, Rhabdomyolysis, Distal lower limb mus... ORPHA:399096
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Skeletal muscle atrophy OMIM:254950
Oculopharyngodistal Myopathy 3
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... OMIM:619473
Mitochondrial Complex I Deficiency, Nuclear Type 23
Skeletal muscle atrophy OMIM:618244
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Increased endomysial connective tissue, Increased variability in muscle fiber diameter, Skeletal ... OMIM:620542
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis OMIM:617070
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Skeletal muscle atrophy, Foot dorsiflexor weakness OMIM:137200
Combined Oxidative Phosphorylation Deficiency 6
Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:300816
Triose Phosphate-Isomerase Deficiency
Skeletal muscle atrophy ORPHA:868
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Myositis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Skeletal muscle atrophy ORPHA:565899
Amyotrophic Lateral Sclerosis 11
Skeletal muscle atrophy OMIM:612577
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Shoulder girdle muscle atrophy, Muscular dystrophy, Skeletal muscle atrophy, Shoulder girdle musc... OMIM:606612
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... OMIM:620375
Aids Wasting Syndrome
Skeletal muscle atrophy ORPHA:90081
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lower-limb joint contracture, Skeletal muscle atrophy OMIM:613710
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Muscle fibe... OMIM:615422
Amish Nemaline Myopathy
Shoulder flexion contracture, Type 1 muscle fiber predominance, Hip contracture, Proximal amyotro... ORPHA:98902
Nemaline Myopathy 10
Nemaline bodies, Congenital contracture, Skeletal muscle atrophy, Fatty replacement of skeletal m... OMIM:616165
Digital Extensor Muscle Aplasia-Polyneuropathy
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... ORPHA:2926
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Decreased cervical spine flexion due to contractur... ORPHA:254361
Amyotrophic Lateral Sclerosis 9
Distal amyotrophy OMIM:611895
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Type 1 muscle fiber predominance, Skeletal muscle atrophy OMIM:618276
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Skeletal muscle atrophy, Limb muscle weakness OMIM:620378
Lethal Congenital Contracture Syndrome 7
Distal arthrogryposis, Skeletal muscle atrophy, Facial diplegia, Knee flexion contracture OMIM:616286
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Skeletal muscle atrophy, Hand muscle atrophy ORPHA:99944
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Progressive distal muscular atrophy, Facial palsy, Skeletal muscle atrophy, Spinal muscular atrophy OMIM:159950
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy ORPHA:238329
Spinocerebellar Ataxia 18
Skeletal muscle atrophy, Limb muscle weakness OMIM:607458
Juvenile Primary Lateral Sclerosis
Skeletal muscle atrophy ORPHA:247604
Roussy-Lévy Syndrome
Intrinsic hand muscle atrophy, Distal amyotrophy, Skeletal muscle atrophy, Lower limb muscle weak... ORPHA:3115
Intermediate Nemaline Myopathy
Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Flex... ORPHA:171433
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Foot dorsiflexor weakness, Distal arth... OMIM:620011
Congenital Multicore Myopathy With External Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscular dystrophy, Nemaline bodies, Sternocleido... ORPHA:98905
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Skeletal muscle atrophy, Increased muscle glycogen content ORPHA:371
Myopathy Due To Myoadenylate Deaminase Deficiency
Rhabdomyolysis, Skeletal muscle atrophy, Myopathy OMIM:615511
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Elbow flexion contracture, Knee flexion contracture, Myopathy, Decreased... OMIM:310300
Spastic Paraplegia 2, X-Linked
Flexion contracture, Skeletal muscle atrophy, Lower limb muscle weakness OMIM:312920
Congenital Myopathy 20
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:620310
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:613954
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Skeletal muscle atrophy OMIM:183050
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Proximal amyotrophy OMIM:608030
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Skeletal muscle atrophy ORPHA:2400
Amyotrophic Lateral Sclerosis 18
Skeletal muscle atrophy OMIM:614808
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Skeletal muscle atrophy, Decreased muscle mass, Type 2 muscle fiber atrophy, Facial palsy, Arthro... OMIM:608931
Charcot-Marie-Tooth Disease Type 1A
Calf muscle hypertrophy, Skeletal muscle atrophy ORPHA:101081
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620138
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoulder girdle muscle ... ORPHA:98913
Kearns-Sayre Syndrome
Skeletal muscle atrophy, Ragged-red muscle fibers ORPHA:480
Deafness-Vitiligo-Achalasia Syndrome
Skeletal muscle atrophy ORPHA:3239
Fetal Akinesia Deformation Sequence 4
Camptodactyly, Arthrogryposis multiplex congenita, Skeletal muscle atrophy OMIM:618393
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle... ORPHA:101097
Charcot-Marie-Tooth Disease Type 1B
Skeletal muscle atrophy, Skeletal muscle hypertrophy ORPHA:101082
Neurogenic Arthrogryposis Multiplex Congenita
Ankle flexion contracture, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle... ORPHA:1143
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ... ORPHA:1145
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Spinal muscular atrophy,... OMIM:616867
Duchenne Muscular Dystrophy
Calf muscle hypertrophy, Skeletal muscle atrophy, Flexion contracture ORPHA:98896
Fried Syndrome
Skeletal muscle atrophy ORPHA:85335
Myopathy, Myofibrillar, 7
Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle fiber predominance... OMIM:617114
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Intrinsic hand muscle atrophy, Distal amyotrophy, Limb muscle weakness, Skeletal muscle atrophy OMIM:614895
Congenital Myopathy 1B, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:255320
Charcot-Marie-Tooth Disease, Type 4B3
Distal lower limb muscle weakness, Skeletal muscle atrophy, Upper limb muscle weakness, Lower lim... OMIM:615284
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:616812
X-Linked Intellectual Disability, Miles-Carpenter Type
Skeletal muscle atrophy ORPHA:85283
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Skeletal muscle atrophy OMIM:617892
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy ORPHA:101078
Scapuloperoneal Spinal Muscular Atrophy
Progressive distal muscular atrophy, Peroneal muscle atrophy, Scapular muscle atrophy, Amyoplasia... OMIM:181405
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Increased variability in muscle fiber diameter, Macroglossia, Skeletal muscle atrophy OMIM:151800
Spastic Paraplegia 76, Autosomal Recessive
Skeletal muscle atrophy, Lower limb muscle weakness OMIM:616907
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Skeletal muscle atrophy, Myopathy ORPHA:300179
Autosomal Dominant Spastic Paraplegia Type 6
Skeletal muscle atrophy ORPHA:100988
Mitochondrial Complex I Deficiency, Nuclear Type 31
Skeletal muscle atrophy OMIM:618251
Ataxia-Deafness-Intellectual Disability Syndrome
Skeletal muscle atrophy ORPHA:1188
Congenital Muscular Dystrophy Due To Lmna Mutation
Flexion contracture, Skeletal muscle atrophy, Myopathy ORPHA:157973
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Skeletal muscle atrophy ORPHA:330050
Deafness, Congenital, With Vitiligo And Achalasia
Skeletal muscle atrophy OMIM:221350
Amyotrophic Lateral Sclerosis 8
Proximal amyotrophy, Skeletal muscle atrophy, Distal amyotrophy OMIM:608627
Cerebellar Ataxia, Cayman Type
Skeletal muscle atrophy, Hypomimic face OMIM:601238
Amyotrophic Dystonic Paraplegia
Skeletal muscle atrophy OMIM:105300
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Weakness of facial musculature, Skeletal muscle atrophy, Myopathy, Spinal muscular atrophy ORPHA:254875
Juvenile Hyaline Fibromatosis
Skeletal muscle atrophy, Progressive flexion contractures ORPHA:2028
Congenital Arthrogryposis With Anterior Horn Cell Disease
Arthrogryposis multiplex congenita, Facial diplegia, Skeletal muscle atrophy OMIM:611890
Congenital Disorder Of Glycosylation, Type Iibb
Skeletal muscle atrophy OMIM:620546
Charcot-Marie-Tooth Disease, Type 4K
Skeletal muscle atrophy OMIM:616684
Cleft Palate-Large Ears-Small Head Syndrome
Skeletal muscle atrophy ORPHA:2013
Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy OMIM:105400
Lethal Congenital Contracture Syndrome 1
Arthrogryposis multiplex congenita, Hypoplasia of the musculature, Skeletal muscle atrophy OMIM:253310
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Skeletal muscle atrophy OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Skeletal muscle atrophy OMIM:616437
Leber Optic Atrophy And Dystonia
Skeletal muscle atrophy OMIM:500001
Lipodystrophy, Familial Partial, Type 6
Muscular dystrophy, Myopathy, Skeletal muscle atrophy, Lower limb muscle weakness OMIM:615980
Congenital Myopathy 19
Congenital contracture, Facial hypotonia, Skeletal muscle atrophy OMIM:618578
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Skeletal muscle atrophy OMIM:612069
Mitochondrial Complex I Deficiency, Nuclear Type 17
Skeletal muscle atrophy OMIM:618239
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Skeletal muscle atrophy ORPHA:477814
Immune-Mediated Necrotizing Myopathy
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Myopathy, Myositis, Muscle fibe... ORPHA:206569
Facioscapulohumeral Dystrophy
Skeletal muscle atrophy ORPHA:269
Combined Oxidative Phosphorylation Deficiency 13
Skeletal muscle atrophy OMIM:614932
Charcot-Marie-Tooth Disease Type 1F
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle... ORPHA:101085
Kennedy Disease
Skeletal muscle atrophy ORPHA:481
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Weakness of facial musculature, Limb muscle weakness, Skeletal muscle atrophy ORPHA:329336
Spastic Paraplegia 11, Autosomal Recessive
Thenar muscle atrophy, Skeletal muscle atrophy, Lower limb muscle weakness OMIM:604360
Myotonia, Potassium-Aggravated
Skeletal muscle atrophy, Skeletal muscle hypertrophy OMIM:608390
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Foot joint contracture, Skeletal muscle atrophy ORPHA:457205
Thyrocerebroretinal Syndrome
Skeletal muscle atrophy OMIM:274240
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Skeletal muscle atrophy ORPHA:2840
Sandhoff Disease, Juvenile Form
Limb joint contracture, Skeletal muscle atrophy ORPHA:309162
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Muscle fiber atrophy, Ra... OMIM:258450
Spinocerebellar Ataxia, Autosomal Recessive 21
Skeletal muscle atrophy OMIM:616719
Isolated Succinate-Coq Reductase Deficiency
Distal amyotrophy, Skeletal muscle atrophy, Knee flexion contracture, Skeletal myopathy, Left ven... ORPHA:3208
Spinocerebellar Ataxia Type 3
Skeletal muscle atrophy ORPHA:98757
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Skeletal muscle atrophy, Limb muscle weakness OMIM:612300
Deafness, X-Linked 5, With Peripheral Neuropathy
Skeletal muscle atrophy OMIM:300614
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Skeletal muscle atrophy, Joint contracture OMIM:615704
Mitochondrial Complex I Deficiency, Nuclear Type 6
Left ventricular hypertrophy, Skeletal muscle atrophy OMIM:618228
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Skeletal muscle atrophy, Joint contracture OMIM:617481
Severe Congenital Nemaline Myopathy
Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Abno... ORPHA:171430
Immunodeficiency 115 With Autoinflammation
Fatty replacement of skeletal muscle, Skeletal muscle atrophy, Lower limb muscle weakness OMIM:620632
Camurati-Engelmann Disease, Type 2
Skeletal muscle atrophy, Hip contracture, Knee flexion contracture OMIM:606631
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Ragged-red muscle fibers, Left ventricular hypertrophy, Achilles tendon ... OMIM:615418
Sialidosis Type 2
Flexion contracture, Skeletal muscle atrophy ORPHA:87876
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Skeletal muscle atrophy, Joint contracture OMIM:615419
Hereditary Sensory And Autonomic Neuropathy Type 2
Skeletal muscle atrophy ORPHA:970
Microhydranencephaly
Skeletal muscle atrophy, Multiple joint contractures, Generalized amyotrophy OMIM:605013
Riboflavin Transporter Deficiency
Facial palsy, Limb muscle weakness, Skeletal muscle atrophy ORPHA:97229
Marinesco-Sjogren Syndrome
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Myopathy, F... OMIM:248800
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Skeletal muscle atrophy, Ragged-red muscle fibers, Lower limb muscle weakness OMIM:616479
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy OMIM:105550
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2
Skeletal muscle atrophy OMIM:619759
Pontocerebellar Hypoplasia, Type 16
Skeletal muscle atrophy, Limb hypertonia OMIM:619527
Pontocerebellar Hypoplasia Type 1
Arthrogryposis multiplex congenita, Skeletal muscle atrophy ORPHA:2254
Lissencephaly 8
Skeletal muscle atrophy OMIM:617255
Autosomal Recessive Spastic Paraplegia Type 26
Skeletal muscle atrophy ORPHA:101006
Gm1-Gangliosidosis, Type Iii
Skeletal muscle atrophy OMIM:230650
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Skeletal muscle atrophy OMIM:618603
Pontocerebellar Hypoplasia, Type 1B
Flexion contracture, Skeletal muscle atrophy OMIM:614678
Congenital Disorder Of Glycosylation, Type Iio
Skeletal muscle atrophy OMIM:616828
Amyotrophy, Hereditary Neuralgic
Skeletal muscle atrophy OMIM:162100
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Limb joint contracture, Skeletal muscle atrophy OMIM:612079
Melorheostosis
Skeletal muscle atrophy ORPHA:2485
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Flexion contracture, Limb muscle weakness, Facial diplegia, Skeletal muscle atrophy OMIM:218000
Pontocerebellar Hypoplasia, Type 11
Skeletal muscle atrophy OMIM:617695
Amyotrophic Lateral Sclerosis 2, Juvenile
Distal amyotrophy, Skeletal muscle atrophy, Distal lower limb amyotrophy, Retrocollis, Hand muscl... OMIM:205100
Combined Oxidative Phosphorylation Deficiency 18
Skeletal muscle atrophy OMIM:615578
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Increased muscle glycogen content, Glycogen accumulation in muscle fiber lysosomes, Rhabdomyolysi... ORPHA:368
Marinesco-Sjögren Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... ORPHA:559
Amyotrophic Lateral Sclerosis
Progressive distal muscular atrophy, Skeletal muscle atrophy, Upper limb muscle weakness, Lower l... ORPHA:803
Lethal Congenital Contracture Syndrome 2
Arthrogryposis multiplex congenita, Skeletal muscle atrophy OMIM:607598
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Skeletal muscle atrophy, Limb hypertonia, Generalized amyotrophy OMIM:617710
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:85329
Schwartz-Jampel Syndrome, Type 1
Joint contracture of the hand, Skeletal muscle atrophy, Quadriceps muscle weakness, Shoulder flex... OMIM:255800
Posterior Column Ataxia With Retinitis Pigmentosa
Camptodactyly, Joint contracture of the hand, Flexion contracture of finger, Skeletal muscle atrophy OMIM:609033
X-Linked Intellectual Disability, Seemanova Type
Hypoplasia of the musculature, Skeletal muscle atrophy ORPHA:85323
Combined Oxidative Phosphorylation Deficiency 24
Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature OMIM:616239
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Nemaline bodies, Joint contracture of the hand, Increased endomysial connective tissue, Skeletal ... OMIM:620278
Atrial Standstill
Left ventricular noncompaction, Muscular dystrophy, Flexion contracture, Skeletal muscle atrophy ORPHA:1344
Renpenning Syndrome
Skeletal muscle atrophy ORPHA:3242
Rhizomelic Chondrodysplasia Punctata, Type 5
Skeletal muscle atrophy, Contractures of the large joints OMIM:616716
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Skeletal muscle atrophy, Myopathy ORPHA:42
Combined Oxidative Phosphorylation Defect Type 7
Distal amyotrophy, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weaknes... ORPHA:254930
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Skeletal muscle atrophy OMIM:162400
Ataxia-Telangiectasia
Skeletal muscle atrophy ORPHA:100
Myopathy With Lactic Acidosis, Hereditary
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Rhabdomyolysis, Myopathy... OMIM:255125
Combined Oxidative Phosphorylation Deficiency 7
Facial paralysis, Facial diplegia, Skeletal muscle atrophy OMIM:613559
Hyperkalemic Periodic Paralysis
Flexion contracture, Skeletal muscle atrophy, Myopathy, Skeletal muscle hypertrophy ORPHA:682
Juvenile Amyotrophic Lateral Sclerosis
Upper-limb joint contracture, Distal amyotrophy, Skeletal muscle atrophy, Muscle fiber atrophy, R... ORPHA:300605
Classical-Like Ehlers-Danlos Syndrome Type 1
Skeletal muscle atrophy ORPHA:230839
Glycogen Storage Disease Iv
Arthrogryposis multiplex congenita, Flexion contracture, Skeletal muscle atrophy OMIM:232500
Oculogastrointestinal Muscular Dystrophy
Skeletal muscle atrophy, Myopathy ORPHA:1876
Postpoliomyelitis Syndrome
Skeletal muscle atrophy ORPHA:2942
Autosomal Recessive Spastic Paraplegia Type 55
Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness, Foot dorsiflexor... ORPHA:320375
Allan-Herndon-Dudley Syndrome
Flexion contracture, Skeletal muscle atrophy, Limb hypertonia ORPHA:59
L1 Syndrome
Skeletal muscle atrophy ORPHA:275543
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Skeletal muscle atrophy ORPHA:1933
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Skeletal muscle atrophy OMIM:618862
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Arthrogryposis multiplex congenita, Flexion contracture, Skeletal muscle atrophy, Multiple joint ... OMIM:618291
Lethal Congenital Contracture Syndrome Type 1
Skeletal muscle atrophy ORPHA:1486
Oxoglutaric Aciduria
Skeletal muscle atrophy ORPHA:31
Autosomal Dominant Optic Atrophy, Classic Form
Scapular winging, Skeletal muscle atrophy, Myopathy, Weakness of facial musculature ORPHA:98673
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Skeletal muscle atrophy OMIM:616896
Flynn-Aird Syndrome
Skeletal muscle atrophy ORPHA:2047
Proteasome-Associated Autoinflammatory Syndrome 4
Myositis, Flexion contracture, Skeletal muscle atrophy OMIM:619183
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ra... OMIM:157640
Spinocerebellar Ataxia Type 18
Skeletal muscle atrophy ORPHA:98771
Myasthenic Syndrome, Congenital, 20, Presynaptic
Arthrogryposis multiplex congenita, Facial palsy, Skeletal muscle atrophy OMIM:617143
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Skeletal muscle atrophy OMIM:245400
Spinocerebellar Ataxia Type 1
Abnormality of masticatory muscle, Skeletal muscle atrophy ORPHA:98755
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Upper limb muscle weakness, Low... OMIM:620538
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Facial palsy, Skeletal muscle atrophy, Abnormal muscle fiber morphology ORPHA:3068
Proximal Spinal Muscular Atrophy
Skeletal muscle atrophy, Quadriceps muscle weakness, Elbow flexion contracture, Facial diplegia, ... ORPHA:70
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Flexion contracture, Skeletal muscle atrophy ORPHA:75496
Becker Muscular Dystrophy
Skeletal muscle atrophy ORPHA:98895
Ataxia With Vitamin E Deficiency
Skeletal muscle atrophy ORPHA:96
Leukodystrophy, Hypomyelinating, 10
Skeletal muscle atrophy OMIM:616420
Carnitine Palmitoyl Transferase 1A Deficiency
Skeletal muscle atrophy ORPHA:156
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Limb-girdle muscle weakness, Limb muscle weakness, Myopathy, Skeletal muscle atrophy OMIM:112250
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Flexion contracture, Abnormal muscle glycogen content, Skeletal muscle atrophy, Myopathy ORPHA:367
Neuraminidase Deficiency
Skeletal muscle atrophy OMIM:256550
Synaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Hand muscle weakness, Type 1 muscle fiber predominance, Myopathy, Type 2... ORPHA:98915
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Skele... OMIM:607459
Spastic Paraplegia 9B, Autosomal Recessive
Skeletal muscle atrophy, Foot dorsiflexor weakness OMIM:616586
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Flexion contracture, Skeletal muscle atrophy, Limb hypertonia ORPHA:481152
Choreoacanthocytosis
Limb muscle weakness, Skeletal muscle atrophy OMIM:200150
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Skeletal muscle atrophy OMIM:615157
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Facial diplegia, Skeletal muscle atrophy OMIM:612073
Niemann-Pick Disease, Type A
Skeletal muscle atrophy OMIM:257200
Cog8-Cdg
Skeletal muscle atrophy ORPHA:95428
Sialidosis Type 1
Skeletal muscle atrophy ORPHA:812
Machado-Joseph Disease Type 1
Distal lower limb amyotrophy, Skeletal muscle atrophy ORPHA:276238
Machado-Joseph Disease Type 2
Distal lower limb amyotrophy, Skeletal muscle atrophy ORPHA:276241
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Knee flexion contracture OMIM:603387
Borjeson-Forssman-Lehmann Syndrome
Camptodactyly of toe, Skeletal muscle atrophy ORPHA:127
Developmental And Epileptic Encephalopathy 51
Skeletal muscle atrophy OMIM:617339
Trisomy 17P
Macroglossia, Flexion contracture, Skeletal muscle atrophy ORPHA:261290
Spinocerebellar Ataxia 1
Distal amyotrophy, Skeletal muscle atrophy OMIM:164400
Sézary Syndrome
Skeletal muscle atrophy ORPHA:3162
Spinocerebellar Ataxia 36
Skeletal muscle atrophy OMIM:614153
Spinocerebellar Ataxia Type 36
Skeletal muscle atrophy ORPHA:276198
Brown-Vialetto-Van Laere Syndrome 1
Facial palsy, Skeletal muscle atrophy, Hand muscle atrophy OMIM:211530
Machado-Joseph Disease Type 3
Distal lower limb amyotrophy, Skeletal muscle atrophy ORPHA:276244
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Skeletal muscle atrophy ORPHA:168563
Mitochondrial Complex I Deficiency, Nuclear Type 37
Skeletal muscle atrophy OMIM:619272
Multiple Acyl-Coa Dehydrogenase Deficiency
Increased intramyocellular lipid droplets, Scapular winging, Skeletal muscle atrophy, Rhabdomyolysis ORPHA:26791
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Skeletal muscle atrophy OMIM:620089
Frontometaphyseal Dysplasia 1
Ankle flexion contracture, Hypoplasia of the musculature, Skeletal muscle atrophy, Interphalangea... OMIM:305620
Ruijs-Aalfs Syndrome
Elbow flexion contracture, Skeletal muscle atrophy OMIM:616200
Walker-Warburg Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atrophy ORPHA:899
Hypermethioninemia Due To Adenosine Kinase Deficiency
Skeletal muscle atrophy OMIM:614300
Carey-Fineman-Ziter Syndrome
Aplasia of the pectoralis major muscle, Facial palsy, Skeletal muscle atrophy, Myopathy ORPHA:1358
3P25.3 Microdeletion Syndrome
Skeletal muscle atrophy, Knee flexion contracture ORPHA:435638
Carey-Fineman-Ziter Syndrome 1
Hypoplasia of the musculature, Skeletal muscle atrophy, Pectoralis hypoplasia, Myopathy, Weakness... OMIM:254940
Autosomal Recessive Ataxia, Beauce Type
Skeletal muscle atrophy, Lower limb muscle weakness ORPHA:88644
Poliomyelitis
Hypoplasia of the musculature, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb mu... ORPHA:2912
Multiple Pterygium-Malignant Hyperthermia Syndrome
Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Camptodactyly of finger, Congenital ... ORPHA:2215
Adenylosuccinase Deficiency
Skeletal muscle atrophy OMIM:103050
Refsum Disease
Skeletal muscle atrophy ORPHA:773
Acth-Independent Macronodular Adrenal Hyperplasia
Skeletal muscle atrophy OMIM:219080
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Flexion contracture, Skeletal muscle atrophy OMIM:300243
Osteogenesis Imperfecta, Type Xiii
Skeletal muscle atrophy OMIM:614856
Donohue Syndrome
Skeletal muscle atrophy OMIM:246200
Sting-Associated Vasculopathy, Infantile-Onset
Myositis, Skeletal muscle atrophy OMIM:615934
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Muscular dystrophy, Calf muscle hypertrophy, Skeletal muscle atrophy, Flexion contracture OMIM:253800
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Flexion contracture, Skeletal muscle atrophy OMIM:300232
Native American Myopathy
Congenital contracture, Skeletal muscle atrophy, Muscle fiber atrophy, Camptodactyly, Abnormality... ORPHA:168572
Rett Syndrome
Skeletal muscle atrophy OMIM:312750
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Limb-girdle muscle weakness, Pelvic girdle muscle weakness, Skeletal muscle atrophy, Rhabdomyolysis ORPHA:79240
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Type 2 muscle fiber predominance, Skeletal muscle atrophy OMIM:615471
Sandhoff Disease
Macroglossia, Skeletal muscle atrophy OMIM:268800
Combined Oxidative Phosphorylation Deficiency 55
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Myopathy OMIM:619743
7Q31 Microdeletion Syndrome
Skeletal muscle atrophy, Torticollis ORPHA:251061
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Skeletal muscle atrophy OMIM:615802
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Arthrogryposis multiplex congenita, Skeletal muscle atrophy OMIM:617193
Hereditary Folate Malabsorption
Skeletal muscle atrophy ORPHA:90045
Autosomal Recessive Spastic Paraplegia Type 20
Distal amyotrophy, Skeletal muscle atrophy, Upper limb muscle weakness ORPHA:101000
Pontocerebellar Hypoplasia, Type 7
Skeletal muscle atrophy OMIM:614969
12Q14 Microdeletion Syndrome
Skeletal muscle atrophy ORPHA:94063
Tay-Sachs Disease
Quadriceps muscle atrophy, Hip flexor weakness, Skeletal muscle atrophy, Lower limb muscle weakness ORPHA:845
Neu-Laxova Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... ORPHA:2671
Autosomal Recessive Multiple Pterygium Syndrome
Arthrogryposis multiplex congenita, Aplasia/Hypoplasia of the abdominal wall musculature, Skeleta... ORPHA:2990
Werner Syndrome
Skeletal muscle atrophy ORPHA:902
Coffin-Lowry Syndrome
Skeletal muscle atrophy ORPHA:192
Graft Versus Host Disease
Myositis, Skeletal muscle atrophy, Dupuytren contracture ORPHA:39812
Localized Scleroderma
Flexion contracture, Skeletal muscle atrophy, Myopathy ORPHA:90289
Recon Progeroid Syndrome
Skeletal muscle atrophy OMIM:620370
Arthrogryposis And Ectodermal Dysplasia
Camptodactyly, Arthrogryposis multiplex congenita, Joint contracture of the hand, Skeletal muscle... OMIM:601701
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Arthrogryposis multiplex congenita, Skeletal muscle atrophy ORPHA:496641
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Skeletal muscle atrophy, Lower limb hypertonia, Limb joint contracture, Flexion contracture, Gene... OMIM:301072
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Myopathy ORPHA:506
Farber Disease
Flexion contracture, Skeletal muscle atrophy ORPHA:333
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Ragged-red muscle fibers... ORPHA:17
Congenital Myopathy 13
Skeletal muscle atrophy, Weakness of facial musculature, Fatty replacement of skeletal muscle, In... OMIM:255995
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy OMIM:219090
Moebius Syndrome
Arthrogryposis multiplex congenita, Facial palsy, Skeletal muscle atrophy, Aplasia of the pectora... ORPHA:570
Japanese Encephalitis
Distal lower limb muscle weakness, Facial palsy, Skeletal muscle atrophy, Elbow flexion contracture ORPHA:79139
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Increased sarcoplasmic glycogen, Skeletal muscle atrophy ORPHA:264580
Tbck-Related Intellectual Disability Syndrome
Macroglossia, Diastasis recti, Skeletal muscle atrophy ORPHA:488632
Congenital Disorder Of Glycosylation, Type Iie
Skeletal muscle atrophy OMIM:608779
Autosomal Recessive Spastic Paraplegia Type 9B
Skeletal muscle atrophy ORPHA:447760
Triosephosphate Isomerase Deficiency
Skeletal muscle atrophy, Myopathy OMIM:615512
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Skeletal muscle atrophy OMIM:210210
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Shoulder flexion contracture, Skeletal muscle hypertrophy, Hip contractu... ORPHA:800
Rett Syndrome
Skeletal muscle atrophy ORPHA:778
Bannayan-Riley-Ruvalcaba Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:109
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Skeletal muscle atrophy OMIM:615895
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Flexion contracture, Skeletal muscle atrophy ORPHA:89842
Marden-Walker Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... ORPHA:2461
Multiple System Atrophy 1, Susceptibility To
Skeletal muscle atrophy OMIM:146500
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Type 1 muscle fiber predominance, Skeletal muscle atrophy, Myopathy OMIM:614557
Mitochondrial Complex I Deficiency, Nuclear Type 1
Increased intramyocellular lipid droplets, Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:252010
Duane Retraction Syndrome
Camptodactyly, Skeletal muscle atrophy ORPHA:233
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Skeletal muscle atrophy ORPHA:1969
Mitochondrial Complex I Deficiency, Nuclear Type 32
Skeletal muscle atrophy OMIM:618252
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Skeletal muscle atrophy OMIM:256810
Steinert Myotonic Dystrophy
Abnormality of the tongue muscle, Distal amyotrophy, Skeletal muscle atrophy, Shoulder girdle mus... ORPHA:273
Tick-Borne Encephalitis
Facial palsy, Skeletal muscle atrophy ORPHA:297
Camurati-Engelmann Disease
Skeletal muscle atrophy OMIM:131300
Cockayne Syndrome Type 3
Flexion contracture, Skeletal muscle atrophy ORPHA:90324
Immunodeficiency 31C
Skeletal muscle atrophy OMIM:614162
Cockayne Syndrome
Congenital contracture, Contractures of the large joints, Skeletal muscle atrophy, Limb hypertonia ORPHA:191
Nijmegen Breakage Syndrome
Rhabdomyosarcoma, Skeletal muscle atrophy ORPHA:647
Proteasome-Associated Autoinflammatory Syndrome 1
Skeletal muscle atrophy, Camptodactyly of finger, Elbow flexion contracture, Flexion contracture ... OMIM:256040
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:536545
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Camptodactyly, Flexion contracture, Skeletal muscle atrophy OMIM:309590
Idiopathic Hypereosinophilic Syndrome
Skeletal muscle atrophy ORPHA:3260
Lysinuric Protein Intolerance
Skeletal muscle atrophy OMIM:222700
Cystinosis, Nephropathic
Skeletal muscle atrophy, Myopathy OMIM:219800
Atypical Werner Syndrome
Calf muscle hypertrophy, Skeletal muscle atrophy, Abnormality of the Achilles tendon ORPHA:79474
Camurati-Engelmann Disease
Facial palsy, Skeletal muscle atrophy ORPHA:1328
Pierson Syndrome
Skeletal muscle atrophy OMIM:609049
Leprosy
Skeletal muscle atrophy, Foot dorsiflexor weakness ORPHA:548
Marfan Syndrome
Skeletal muscle atrophy ORPHA:558
Stickler Syndrome
Macroglossia, Skeletal muscle atrophy ORPHA:828
Leprechaunism
Skeletal muscle atrophy ORPHA:508
Bardet-Biedl Syndrome
Skeletal muscle atrophy ORPHA:110
Primrose Syndrome
Distal amyotrophy, Skeletal muscle atrophy, Hip contracture, Knee flexion contracture, Flexion co... OMIM:259050
Pontocerebellar Hypoplasia Type 7
Skeletal muscle atrophy ORPHA:284339
Kallmann Syndrome
ORPHA:478
Hypogonadotropic Hypogonadism 25 With Anosmia
OMIM:618841

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 Ndnf

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 Ndnf.

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

Title Journal IMPC Allele PubMed ID
Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism. American journal of human genetics (December 2019) Ndnftm1(NCOM)Mfgc PMC7042563

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Ndnftm118194(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ndnftm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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