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Gene: Ndnf MGI:1915419

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

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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.

Human diseases associated with Ndnf (2 diseases)
Human diseases predicted to be associated with Ndnf (447 diseases)

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	Matching phenotypes	Source
Spinal Muscular Atrophy, Scapuloperoneal	Scapular muscle atrophy, Spinal muscular atrophy, Peroneal muscle atrophy	OMIM:271220
Spinal Muscular Atrophy, Facioscapulohumeral Type	Skeletal muscle atrophy, Spinal muscular atrophy	OMIM:182970
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6	Scapular winging, Facial palsy, Generalized limb muscle atrophy, Proximal upper limb amyotrophy, ...	ORPHA:219
Miyoshi Myopathy	Distal lower limb amyotrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, Quadric...	ORPHA:45448
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 5	Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Upper limb muscle weakness,...	OMIM:600794
Amyotonia Congenita	Skeletal muscle atrophy	OMIM:205000
Charcot-Marie-Tooth Disease, Axonal, Type 2D	Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Upper limb muscle weakness,...	OMIM:601472
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
Lethal Congenital Contracture Syndrome 4	Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture, Distal arthrogryposis	OMIM:614915
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy	Distal lower limb amyotrophy, Quadriceps muscle atrophy, Quadriceps muscle weakness, Upper limb a...	ORPHA:482601
Spastic Paraplegia 77, Autosomal Recessive	Upper limb muscle weakness, Lower limb amyotrophy, 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, Spinal muscular atrophy, Foot dorsiflexor weakness	OMIM:614881
Spinal Muscular Atrophy With Microcephaly And Mental Subnormality	Proximal spinal muscular atrophy	OMIM:271110
Lethal Congenital Contracture Syndrome 3	Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex congenita	OMIM:611369
Neuronopathy, Distal Hereditary Motor, X-Linked	Distal amyotrophy, Spinal muscular atrophy	OMIM:300489
Charcot-Marie-Tooth Disease, Axonal, Type 2Q	Skeletal muscle atrophy, Distal lower limb muscle weakness	OMIM:615025
Myopathy, Distal, With Rimmed Vacuoles	Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa...	OMIM:617158
Spastic Paraplegia 38, Autosomal Dominant	Thenar muscle atrophy, Thenar muscle weakness, Distal amyotrophy, First dorsal interossei muscle ...	OMIM:612335
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 8	Calf muscle hypertrophy, Distal amyotrophy	OMIM:618135
Charcot-Marie-Tooth Disease, Axonal, Type 2U	Hand muscle atrophy, Distal amyotrophy, Foot dorsiflexor weakness, Hand muscle weakness	OMIM:616280
Nonaka Myopathy	Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu...	OMIM:605820
Charcot-Marie-Tooth Disease, Axonal, Type 2Dd	Distal amyotrophy, Foot dorsiflexor weakness	OMIM:618036
Myopathy, Distal, 4	Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the...	OMIM:614065
Myopathy, Distal, 5	Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower...	OMIM:617030
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus	Skeletal muscle atrophy	OMIM:158500
Inclusion Body Myositis	Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red...	ORPHA:611
Spinal Muscular Atrophy, Segmental	Hand muscle atrophy, Segmental spinal muscular atrophy	OMIM:183020
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Hand muscle atrophy, Hand muscle weakness, Distal amyotrophy, Weakness of facial musculature, Low...	OMIM:607641
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3	Distal amyotrophy, Distal lower limb muscle weakness, Interosseus muscle atrophy, Spinal muscular...	OMIM:607088
Arthrogryposis Multiplex Congenita 2, Neurogenic Type	Skeletal muscle atrophy, Congenital contracture, Arthrogryposis multiplex congenita, Myopathy	OMIM:208100
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Distal amyotrophy, Spinal muscular atrophy, Proximal amyotrophy	OMIM:182980
Welander Distal Myopathy	Distal amyotrophy, Rimmed vacuoles	OMIM:604454
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle...	OMIM:618655
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff	Distal lower limb amyotrophy, Weak grip, Distal amyotrophy, Distal upper limb amyotrophy, Wrist d...	OMIM:619519
Spinal Muscular Atrophy With Mental Retardation	Spinal muscular atrophy	OMIM:271109
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc...	ORPHA:602
Spastic Paraplegia 42, Autosomal Dominant	Skeletal muscle atrophy	OMIM:612539
Nemaline Myopathy 6	Skeletal muscle atrophy, Limb muscle weakness, Nemaline bodies, Myopathy	OMIM:609273
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a...	OMIM:600175
Spinal Muscular Atrophy, Type Iii	Pelvic girdle amyotrophy, Spinal muscular atrophy, Distal amyotrophy, Shoulder girdle muscle weak...	OMIM:253400
Spinal Muscular Atrophy, Jokela Type	Calf muscle hypertrophy, Skeletal muscle atrophy, Spinal muscular atrophy	OMIM:615048
Distal Hereditary Motor Neuropathy Type 5	Thenar muscle atrophy, Thenar muscle weakness, Upper limb muscle weakness, Distal amyotrophy, Fir...	ORPHA:139536
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6	Lower limb muscle weakness, Spinal muscular atrophy, Weakness of the intrinsic hand muscles, Lowe...	OMIM:615575
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle...	OMIM:604286
Spastic Paraplegia 31, Autosomal Dominant	Skeletal muscle atrophy, Distal amyotrophy, Lower limb muscle weakness	OMIM:610250
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	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur...	OMIM:620068
Spinal Muscular Atrophy, Type Iv	Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ...	OMIM:271150
Spinal Muscular Atrophy, Ryukyuan Type	Spinal muscular atrophy, Proximal amyotrophy	OMIM:271200
Facial Onset Sensory And Motor Neuronopathy	Skeletal muscle atrophy	ORPHA:85162
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P...	OMIM:601954
Hereditary Myopathy With Early Respiratory Failure	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H...	ORPHA:178464
Bethlem Myopathy 1	Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Camptodactyly of finger, A...	OMIM:158810
Autosomal Recessive Spastic Paraplegia Type 62	Skeletal muscle atrophy, Knee flexion contracture	ORPHA:401785
Myopathy, Myofibrillar, 3	Myofibrillar myopathy, Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic...	OMIM:609200
Myopathy, Sarcoplasmic Body	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus...	OMIM:620286
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D	Upper limb muscle weakness, Distal amyotrophy, Foot dorsiflexor weakness	OMIM:607678
Charcot-Marie-Tooth Disease, Axonal, Type 2N	Distal lower limb amyotrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Foot dorsiflex...	OMIM:613287
Muscular Dystrophy, Congenital, 1B	Facial palsy, Achilles tendon contracture, Generalized muscle hypertrophy, Pectoralis amyotrophy,...	OMIM:604801
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Skeletal muscle atrophy, Flexion contracture	OMIM:611105
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2	Distal amyotrophy, Claw hand deformity, Spinal muscular atrophy, Foot dorsiflexor weakness	OMIM:605726
Legg-Calvé-Perthes Disease	Skeletal muscle atrophy	ORPHA:2380
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability...	OMIM:613204
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Nonprogressive muscular atrophy, Distal amyotrophy	ORPHA:1216
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2	Upper limb muscle weakness, Distal amyotrophy, Foot dorsiflexor weakness	OMIM:302801
Spastic Paraplegia 62, Autosomal Recessive	Skeletal muscle atrophy	OMIM:615681
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra...	ORPHA:206549
Charcot-Marie-Tooth Disease, Axonal, Type 2B2	Distal amyotrophy	OMIM:605589
Dysequilibrium Syndrome	Skeletal muscle atrophy	ORPHA:1766
Spastic Paraplegia 63, Autosomal Recessive	Skeletal muscle atrophy	OMIM:615686
Scapuloperoneal Myopathy, X-Linked Dominant	Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloperoneal myopathy,...	OMIM:300695
Spastic Paraplegia 18B, Autosomal Recessive	Skeletal muscle atrophy, Joint contracture, Lower limb muscle weakness	OMIM:611225
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari...	OMIM:608807
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk...	OMIM:254110
Spinal Muscular Atrophy, Type Ii	Skeletal muscle atrophy, Spinal muscular atrophy	OMIM:253550
Myopathy, Scapulohumeroperoneal	Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated...	OMIM:616852
Distal Nebulin Myopathy	Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m...	ORPHA:399103
Extensor Tendons Of Finger Anomalies	Skeletal muscle atrophy, Camptodactyly of finger	ORPHA:3294
Spinal Muscular Atrophy, Infantile, James Type	Hip contracture, Distal amyotrophy, Type 1 muscle fiber predominance, Increased variability in mu...	OMIM:619042
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C...	OMIM:617760
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculature	OMIM:617069
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:...	OMIM:253601
Myopathy, Centronuclear, 1	Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers...	OMIM:160150
Gemignani Syndrome	Skeletal muscle atrophy	ORPHA:2074
Miyoshi Muscular Dystrophy 1	Distal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Deposits immunoreactive to bet...	OMIM:254130
Myosclerosis, Autosomal Recessive	Skeletal muscle atrophy, Achilles tendon contracture, Neck joint contracture, Facial palsy	OMIM:255600
Congenital Myopathy 23	Skeletal muscle atrophy, Scapular winging, Flexion contracture, Facial diplegia, Type 1 muscle fi...	OMIM:609285
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A...	OMIM:619566
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S...	OMIM:300696
Nathalie Syndrome	Skeletal muscle atrophy	OMIM:255990
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Scapuloperoneal amyotrophy, Distal amyotrophy, Joint contracture of the hand, Spinal muscular atr...	OMIM:611067
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I...	OMIM:117000
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap...	OMIM:608358
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
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al...	ORPHA:352479
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox...	OMIM:614302
Distal Anoctaminopathy	Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Peroneal muscle atrophy, ...	ORPHA:399096
Glycogen Storage Disease Ixd	Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn...	OMIM:300559
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6	Calf muscle hypertrophy, Scapular winging, Muscular dystrophy, Proximal amyotrophy	OMIM:601287
Muscular Dystrophy, Congenital, Lmna-Related	Hip contracture, Elbow contracture, Scapuloperoneal amyotrophy, Achilles tendon contracture, Hams...	OMIM:613205
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies	Skeletal muscle atrophy	OMIM:205250
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T...	OMIM:616313
Spastic Paraplegia 70, Autosomal Recessive	Skeletal muscle atrophy, Achilles tendon contracture	OMIM:620323
Nemaline Myopathy 5C, Autosomal Dominant	Skeletal muscle atrophy, Scapular winging, Quadriceps muscle weakness, Achilles tendon contractur...	OMIM:620389
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Skeletal muscle atrophy, Macroglossia, Calf muscle hypertrophy, Muscular dystrophy, Triangular to...	OMIM:616827
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, Muscle fib...	OMIM:619178
Charcot-Marie-Tooth Disease, Dominant Intermediate D	Upper limb muscle weakness, Distal amyotrophy	OMIM:607791
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl...	OMIM:618129
Spastic Paraplegia 64, Autosomal Recessive	Skeletal muscle atrophy	OMIM:615683
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, Myopathy,...	OMIM:167320
Microcephaly, Seizures, And Developmental Delay	Skeletal muscle atrophy	OMIM:613402
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Proximal a...	ORPHA:206559
Facioscapulohumeral Muscular Dystrophy 1	Skeletal muscle atrophy, Scapular winging, Facial palsy, Calf muscle hypertrophy, Shoulder girdle...	OMIM:158900
Myopathy, X-Linked, With Excessive Autophagy	Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ...	OMIM:310440
Distal Myotilinopathy	EMG: myopathic abnormalities, Distal amyotrophy, Multiple joint contractures, Abnormal muscle fib...	ORPHA:98911
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc...	OMIM:612999
Charcot-Marie-Tooth Disease Type 2B1	Hand muscle atrophy, Toe extensor amyotrophy, Pelvic girdle muscle atrophy, Hand muscle weakness,...	ORPHA:98856
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17	Skeletal muscle atrophy, Flexion contracture, Muscular dystrophy	OMIM:613723
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia	Distal amyotrophy	OMIM:205200
Spastic Paraplegia 45, Autosomal Recessive	Skeletal muscle atrophy, Flexion contracture	OMIM:613162
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Myopathy, Type 1 muscle fiber...	OMIM:605355
Pontocerebellar Hypoplasia, Type 1C	Skeletal muscle atrophy, Joint contracture, Spinal muscular atrophy	OMIM:616081
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Scapular winging, Myositis, Facial palsy, Flexion contracture, Proximal amyotrophy, Muscular dyst...	OMIM:253600
Myopathy, Tubular Aggregate, 1	Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi...	OMIM:160565
Neuropathy, Congenital Hypomyelinating, 2	Skeletal muscle atrophy, Distal amyotrophy, Facial diplegia	OMIM:618184
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant	Muscular dystrophy, Proximal amyotrophy	OMIM:612998
Myopathy, Distal, 3	Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contracture of the han...	OMIM:610099
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Type 1 muscle fiber predo...	OMIM:608340
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes...	OMIM:616924
Nemaline Myopathy 2	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Thenar muscle atrophy, Fatty replacement ...	OMIM:256030
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia	Skeletal muscle atrophy	OMIM:254950
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Muscle fiber necrosi...	OMIM:253700
Oculopharyngodistal Myopathy 3	Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dist...	OMIM:619473
Rigid Spine Syndrome	Hip contracture, Skeletal muscle atrophy, Elbow flexion contracture, Hamstring contractures, Myop...	ORPHA:97244
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers	OMIM:617070
Mitochondrial Complex I Deficiency, Nuclear Type 23	Skeletal muscle atrophy	OMIM:618244
Combined Oxidative Phosphorylation Deficiency 6	Skeletal muscle atrophy, Ragged-red muscle fibers	OMIM:300816
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive	Skeletal muscle atrophy, Foot dorsiflexor weakness	OMIM:137200
Triose Phosphate-Isomerase Deficiency	Skeletal muscle atrophy	ORPHA:868
Amyotrophic Lateral Sclerosis 11	Skeletal muscle atrophy	OMIM:612577
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	Calf muscle hypertrophy, Skeletal muscle atrophy, Myositis, Proximal muscle weakness in lower limbs	ORPHA:565899
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Skeletal muscle atrophy, Lower-limb joint contracture	OMIM:613710
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Distal lower limb amyotrophy, Intrinsic hand muscle atrophy, Upper limb amyotrophy, Amyotrophy of...	ORPHA:90103
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Skeletal muscle atrophy, Facial palsy, Elbow contracture, Achilles tendon contracture, Proximal a...	OMIM:606612
Nemaline Myopathy 10	Skeletal muscle atrophy, Facial palsy, Fatty replacement of skeletal muscle, Flexion contracture,...	OMIM:616165
Amish Nemaline Myopathy	Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Type 1 muscle fiber predomina...	ORPHA:98902
Digital Extensor Muscle Aplasia-Polyneuropathy	Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Camptodactyly of ...	ORPHA:2926
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f...	OMIM:615422
Amyotrophic Lateral Sclerosis 9	Distal amyotrophy	OMIM:611895
Lethal Congenital Contracture Syndrome 7	Skeletal muscle atrophy, Facial diplegia, Distal arthrogryposis, Knee flexion contracture	OMIM:616286
Charcot-Marie-Tooth Disease, Dominant Intermediate A	Skeletal muscle atrophy, Limb muscle weakness	OMIM:620378
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Skeletal muscle atrophy, Spinal muscular atrophy, Progressive distal muscular atrophy, Facial palsy	OMIM:159950
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Skeletal muscle atrophy, Type 1 muscle fiber predominance	OMIM:618276
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Hand muscle atrophy, Skeletal muscle atrophy	ORPHA:99944
Severe X-Linked Mitochondrial Encephalomyopathy	Skeletal muscle atrophy, Increased variability in muscle fiber diameter	ORPHA:238329
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Myopathy, Calf muscle hy...	ORPHA:86812
Spinocerebellar Ataxia 18	Skeletal muscle atrophy, Limb muscle weakness	OMIM:607458
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr...	ORPHA:254361
Roussy-Lévy Syndrome	Skeletal muscle atrophy, Distal amyotrophy, Lower limb muscle weakness, Intrinsic hand muscle atr...	ORPHA:3115
Juvenile Primary Lateral Sclerosis	Skeletal muscle atrophy	ORPHA:247604
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Skeletal muscle atrophy, Plantar flexion contracture, Arthrogryposis-like hand anomaly, Distal ar...	OMIM:620011
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ...	ORPHA:171433
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Increased muscle glycogen content, Skeletal muscle atrophy	ORPHA:371
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at...	ORPHA:98905
Myopathy Due To Myoadenylate Deaminase Deficiency	Skeletal muscle atrophy, Rhabdomyolysis, Myopathy	OMIM:615511
Spastic Paraplegia 2, X-Linked	Skeletal muscle atrophy, Flexion contracture, Lower limb muscle weakness	OMIM:312920
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy, Elbow flexion ...	OMIM:310300
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low...	OMIM:613954
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Proximal amyotrophy	OMIM:608030
Charcot-Marie-Tooth Disease Type 1A	Calf muscle hypertrophy, Skeletal muscle atrophy	ORPHA:101081
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Skeletal muscle atrophy	OMIM:183050
Congenital Myopathy 20	Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle...	OMIM:620310
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, Facial palsy, Arthrogryposis multiplex congenita,...	OMIM:608931
Amyotrophic Lateral Sclerosis 8	Skeletal muscle atrophy, Distal amyotrophy, Proximal amyotrophy	OMIM:608627
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus...	OMIM:620138
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	Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Camptodactyly	OMIM:618393
Charcot-Marie-Tooth Disease Type 1B	Skeletal muscle hypertrophy, Skeletal muscle atrophy	ORPHA:101082
Neurogenic Arthrogryposis Multiplex Congenita	Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle flexion contracture, ...	ORPHA:1143
Infantile-Onset X-Linked Spinal Muscular Atrophy	Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex...	ORPHA:1145
Congenital Myopathy 1B, Autosomal Recessive	Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari...	OMIM:255320
Duchenne Muscular Dystrophy	Calf muscle hypertrophy, Skeletal muscle atrophy, Flexion contracture	ORPHA:98896
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakness of long finger extensor muscles...	ORPHA:98913
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m...	OMIM:616867
Fried Syndrome	Skeletal muscle atrophy	ORPHA:85335
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Skeletal muscle atrophy, Distal amyotrophy, Limb muscle weakness, Intrinsic hand muscle atrophy	OMIM:614895
Myopathy, Myofibrillar, 7	Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul...	OMIM:617114
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Peroneal muscle weakness, Hand ...	ORPHA:101097
Charcot-Marie-Tooth Disease, Type 4B3	Upper limb muscle weakness, Skeletal muscle atrophy, Distal lower limb muscle weakness, Lower lim...	OMIM:615284
Amyotrophic Lateral Sclerosis, Susceptibility To, 24	Skeletal muscle atrophy	OMIM:617892
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle...	OMIM:181405
X-Linked Intellectual Disability, Miles-Carpenter Type	Skeletal muscle atrophy	ORPHA:85283
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,...	OMIM:616812
X-Linked Charcot-Marie-Tooth Disease Type 4	Skeletal muscle atrophy	ORPHA:101078
Spastic Paraplegia 76, Autosomal Recessive	Skeletal muscle atrophy, Lower limb muscle weakness	OMIM:616907
Autosomal Dominant Spastic Paraplegia Type 6	Skeletal muscle atrophy	ORPHA:100988
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Skeletal muscle atrophy, Myopathy	ORPHA:300179
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	Skeletal muscle atrophy, Flexion contracture, 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
Juvenile Hyaline Fibromatosis	Skeletal muscle atrophy, Progressive flexion contractures	ORPHA:2028
Amyotrophic Dystonic Paraplegia	Skeletal muscle atrophy	OMIM:105300
Congenital Arthrogryposis With Anterior Horn Cell Disease	Skeletal muscle atrophy, Facial diplegia, Arthrogryposis multiplex congenita	OMIM:611890
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Skeletal muscle atrophy, Myopathy, Spinal muscular atrophy, Weakness of facial musculature	ORPHA:254875
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
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
Lethal Congenital Contracture Syndrome 1	Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Hypoplasia of the musculature	OMIM:253310
Leber Optic Atrophy And Dystonia	Skeletal muscle atrophy	OMIM:500001
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
Lipodystrophy, Familial Partial, Type 6	Skeletal muscle atrophy, Lower limb muscle weakness, Muscular dystrophy, Myopathy	OMIM:615980
Congenital Myopathy 19	Skeletal muscle atrophy, Congenital contracture, Facial hypotonia	OMIM:618578
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome	Skeletal muscle atrophy	ORPHA:477814
Charcot-Marie-Tooth Disease Type 1F	Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Distal lower limb amyotrophy, Pro...	ORPHA:101085
Combined Oxidative Phosphorylation Deficiency 13	Skeletal muscle atrophy	OMIM:614932
Facioscapulohumeral Dystrophy	Skeletal muscle atrophy	ORPHA:269
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Scapular winging, Myositis, Proximal muscle weakness in lower limbs, Myo...	ORPHA:206569
Kennedy Disease	Skeletal muscle atrophy	ORPHA:481
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Skeletal muscle atrophy, Limb muscle weakness, Weakness of facial musculature	ORPHA:329336
Spastic Paraplegia 11, Autosomal Recessive	Skeletal muscle atrophy, Lower limb muscle weakness, Thenar muscle atrophy	OMIM:604360
Myotonia, Potassium-Aggravated	Skeletal muscle hypertrophy, Skeletal muscle atrophy	OMIM:608390
Thyrocerebroretinal Syndrome	Skeletal muscle atrophy	OMIM:274240
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Skeletal muscle atrophy, Foot joint contracture	ORPHA:457205
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Increased variability in muscle ...	OMIM:258450
Sandhoff Disease, Juvenile Form	Skeletal muscle atrophy, Limb joint contracture	ORPHA:309162
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome	Skeletal muscle atrophy	ORPHA:2840
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
Mitochondrial Complex I Deficiency, Nuclear Type 6	Left ventricular hypertrophy, Skeletal muscle atrophy	OMIM:618228
Isolated Succinate-Coq Reductase Deficiency	Skeletal muscle atrophy, Knee flexion contracture, Distal amyotrophy, Skeletal myopathy, Lower li...	ORPHA:3208
Spinocerebellar Ataxia, Autosomal Recessive 21	Skeletal muscle atrophy	OMIM:616719
Gm1-Gangliosidosis, Type Iii	Skeletal muscle atrophy	OMIM:230650
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Skeletal muscle atrophy, Joint contracture	OMIM:617481
Severe Congenital Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ...	ORPHA:171430
Deafness, X-Linked 5, With Peripheral Neuropathy	Skeletal muscle atrophy	OMIM:300614
Camurati-Engelmann Disease, Type 2	Hip contracture, Skeletal muscle atrophy, Knee flexion contracture	OMIM:606631
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Left ventricular ...	OMIM:615418
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
Sialidosis Type 2	Skeletal muscle atrophy, Flexion contracture	ORPHA:87876
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Skeletal muscle atrophy, Joint contracture	OMIM:615704
Microhydranencephaly	Skeletal muscle atrophy, Multiple joint contractures, Generalized amyotrophy	OMIM:605013
Riboflavin Transporter Deficiency	Skeletal muscle atrophy, Limb muscle weakness, Facial palsy	ORPHA:97229
Marinesco-Sjogren Syndrome	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myopath...	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
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Skeletal muscle atrophy	OMIM:616896
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Skeletal muscle atrophy	OMIM:105550
Lissencephaly 8	Skeletal muscle atrophy	OMIM:617255
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2	Skeletal muscle atrophy	OMIM:619759
Pontocerebellar Hypoplasia Type 1	Skeletal muscle atrophy, Arthrogryposis multiplex congenita	ORPHA:2254
Melorheostosis	Skeletal muscle atrophy	ORPHA:2485
Pontocerebellar Hypoplasia, Type 16	Skeletal muscle atrophy, Limb hypertonia	OMIM:619527
Autosomal Recessive Spastic Paraplegia Type 26	Skeletal muscle atrophy	ORPHA:101006
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Skeletal muscle atrophy	OMIM:618603
Pontocerebellar Hypoplasia, Type 1B	Skeletal muscle atrophy, Flexion contracture	OMIM:614678
Congenital Disorder Of Glycosylation, Type Iio	Skeletal muscle atrophy	OMIM:616828
Amyotrophy, Hereditary Neuralgic	Skeletal muscle atrophy	OMIM:162100
Amyotrophic Lateral Sclerosis 2, Juvenile	Hand muscle atrophy, Skeletal muscle atrophy, Distal lower limb amyotrophy, Limb joint contractur...	OMIM:205100
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Skeletal muscle atrophy, Limb joint contracture	OMIM:612079
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Skeletal muscle atrophy, Limb muscle weakness, Flexion contracture, Facial diplegia	OMIM:218000
Pontocerebellar Hypoplasia, Type 11	Skeletal muscle atrophy	OMIM:617695
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Increased muscle glycogen content, Skeletal muscle atrophy, Rhabdomyolysis, Glycogen accumulation...	ORPHA:368
Marinesco-Sjögren Syndrome	Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Myopathy, Muscula...	ORPHA:559
Combined Oxidative Phosphorylation Deficiency 18	Skeletal muscle atrophy	OMIM:615578
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Arthrogryposis multiplex congenita	OMIM:607598
Schwartz-Jampel Syndrome, Type 1	Hip contracture, Skeletal muscle atrophy, Shoulder flexion contracture, Quadriceps muscle weaknes...	OMIM:255800
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome	Skeletal muscle atrophy, Myopathy	ORPHA:85329
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Skeletal muscle atrophy, Generalized amyotrophy, Limb hypertonia	OMIM:617710
Posterior Column Ataxia With Retinitis Pigmentosa	Skeletal muscle atrophy, Flexion contracture of finger, Joint contracture of the hand, Camptodactyly	OMIM:609033
Combined Oxidative Phosphorylation Deficiency 24	Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature	OMIM:616239
X-Linked Intellectual Disability, Seemanova Type	Skeletal muscle atrophy, Hypoplasia of the musculature	ORPHA:85323
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increased endomysial connecti...	OMIM:620278
Renpenning Syndrome	Skeletal muscle atrophy	ORPHA:3242
Ataxia-Telangiectasia	Skeletal muscle atrophy	ORPHA:100
Rhizomelic Chondrodysplasia Punctata, Type 5	Skeletal muscle atrophy, Contractures of the large joints	OMIM:616716
Spinocerebellar Ataxia Type 1	Skeletal muscle atrophy, Abnormality of masticatory muscle	ORPHA:98755
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Distal arthrogryposis, Myopathy	ORPHA:42
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Skeletal muscle atrophy	OMIM:162400
Hyperkalemic Periodic Paralysis	Skeletal muscle hypertrophy, Skeletal muscle atrophy, Flexion contracture, Myopathy	ORPHA:682
Myopathy With Lactic Acidosis, Hereditary	Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Increased intramyocellular lipid droplets, Inc...	OMIM:255125
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Left ventricular noncompaction, Muscular dystrophy	ORPHA:1344
Combined Oxidative Phosphorylation Defect Type 7	Skeletal muscle atrophy, Upper limb muscle weakness, Facial diplegia, Distal amyotrophy, Lower li...	ORPHA:254930
Juvenile Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Upper-limb joint contracture, Distal amyotrophy, Lower-limb joint contra...	ORPHA:300605
Postpoliomyelitis Syndrome	Skeletal muscle atrophy	ORPHA:2942
Combined Oxidative Phosphorylation Deficiency 7	Skeletal muscle atrophy, Facial diplegia, Facial paralysis	OMIM:613559
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Skeletal muscle atrophy	ORPHA:1933
Allan-Herndon-Dudley Syndrome	Skeletal muscle atrophy, Flexion contracture, Limb hypertonia	ORPHA:59
L1 Syndrome	Skeletal muscle atrophy	ORPHA:275543
Glycogen Storage Disease Iv	Skeletal muscle atrophy, Arthrogryposis multiplex congenita	OMIM:232500
Classical-Like Ehlers-Danlos Syndrome Type 1	Skeletal muscle atrophy	ORPHA:230839
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Skeletal muscle atrophy	OMIM:618862
Lethal Congenital Contracture Syndrome Type 1	Skeletal muscle atrophy	ORPHA:1486
Flynn-Aird Syndrome	Skeletal muscle atrophy	ORPHA:2047
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Multiple joint contractures, Flexion...	OMIM:618291
Autosomal Recessive Spastic Paraplegia Type 55	Skeletal muscle atrophy, Tibialis muscle weakness, Upper limb muscle weakness, Arthrogryposis mul...	ORPHA:320375
Oculogastrointestinal Muscular Dystrophy	Skeletal muscle atrophy, Myopathy	ORPHA:1876
Autosomal Dominant Optic Atrophy, Classic Form	Skeletal muscle atrophy, Scapular winging, Myopathy, Weakness of facial musculature	ORPHA:98673
Spinocerebellar Ataxia Type 18	Skeletal muscle atrophy	ORPHA:98771
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Rhabdomyolysis, Limb muscle weak...	OMIM:157640
Oxoglutaric Aciduria	Skeletal muscle atrophy	ORPHA:31
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Skeletal muscle atrophy	OMIM:245400
Proteasome-Associated Autoinflammatory Syndrome 4	Skeletal muscle atrophy, Myositis, Flexion contracture	OMIM:619183
Myasthenic Syndrome, Congenital, 20, Presynaptic	Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Facial palsy	OMIM:617143
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morphology	ORPHA:3068
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Skeletal muscle atrophy, Flexion contracture	ORPHA:75496
Becker Muscular Dystrophy	Skeletal muscle atrophy	ORPHA:98895
Proximal Spinal Muscular Atrophy	Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Flexion contrac...	ORPHA:70
Ataxia With Vitamin E Deficiency	Skeletal muscle atrophy	ORPHA:96
Carnitine Palmitoyl Transferase 1A Deficiency	Skeletal muscle atrophy	ORPHA:156
Leukodystrophy, Hypomyelinating, 10	Skeletal muscle atrophy	OMIM:616420
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Skeletal muscle atrophy, Limb-girdle muscle weakness, Myopathy, Limb muscle weakness	OMIM:112250
Neuraminidase Deficiency	Skeletal muscle atrophy	OMIM:256550
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Skeletal muscle atrophy, Flexion contracture, Abnormal muscle glycogen content, Myopathy	ORPHA:367
Synaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Myopathy, Type 1 m...	ORPHA:98915
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red...	OMIM:607459
Spastic Paraplegia 9B, Autosomal Recessive	Skeletal muscle atrophy, Foot dorsiflexor weakness	OMIM:616586
Choreoacanthocytosis	Skeletal muscle atrophy, Limb muscle weakness	OMIM:200150
Autosomal Recessive Spastic Paraplegia Type 78	Skeletal muscle atrophy, Facial myokymia	ORPHA:513436
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Skeletal muscle atrophy, Flexion contracture, Limb hypertonia	ORPHA:481152
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Skeletal muscle atrophy	OMIM:615157
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Skeletal muscle atrophy, Facial diplegia	OMIM:612073
Niemann-Pick Disease, Type A	Skeletal muscle atrophy	OMIM:257200
Sialidosis Type 1	Skeletal muscle atrophy	ORPHA:812
Cog8-Cdg	Skeletal muscle atrophy	ORPHA:95428
Borjeson-Forssman-Lehmann Syndrome	Camptodactyly of toe, Skeletal muscle atrophy	ORPHA:127
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Knee flexion contracture	OMIM:603387
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
Developmental And Epileptic Encephalopathy 51	Skeletal muscle atrophy	OMIM:617339
Trisomy 17P	Macroglossia, Skeletal muscle atrophy, Flexion contracture	ORPHA:261290
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Skeletal muscle atrophy, Facial palsy	OMIM:211530
Spinocerebellar Ataxia 1	Skeletal muscle atrophy, Distal amyotrophy	OMIM:164400
Spinocerebellar Ataxia 36	Skeletal muscle atrophy	OMIM:614153
Sézary Syndrome	Skeletal muscle atrophy	ORPHA:3162
Spinocerebellar Ataxia Type 36	Skeletal muscle atrophy	ORPHA:276198
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Skeletal muscle atrophy	ORPHA:168563
Machado-Joseph Disease Type 3	Distal lower limb amyotrophy, Skeletal muscle atrophy	ORPHA:276244
Mitochondrial Complex I Deficiency, Nuclear Type 37	Skeletal muscle atrophy	OMIM:619272
Multiple Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Scapular winging, Rhabdomyolysis, Increased intramyocellular lipid droplets	ORPHA:26791
Carey-Fineman-Ziter Syndrome	Skeletal muscle atrophy, Aplasia of the pectoralis major muscle, Myopathy, Facial palsy	ORPHA:1358
Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy	ORPHA:803
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Skeletal muscle atrophy	OMIM:620089
3P25.3 Microdeletion Syndrome	Skeletal muscle atrophy, Knee flexion contracture	ORPHA:435638
Ruijs-Aalfs Syndrome	Skeletal muscle atrophy, Elbow flexion contracture	OMIM:616200
Hypermethioninemia Due To Adenosine Kinase Deficiency	Skeletal muscle atrophy	OMIM:614300
Autosomal Recessive Ataxia, Beauce Type	Skeletal muscle atrophy, Lower limb muscle weakness	ORPHA:88644
Walker-Warburg Syndrome	Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy	ORPHA:899
Frontometaphyseal Dysplasia 1	Skeletal muscle atrophy, Scapular winging, Interphalangeal joint contracture of finger, Hypoplasi...	OMIM:305620
Carey-Fineman-Ziter Syndrome 1	Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Flexion contracture, Myopat...	OMIM:254940
Adenylosuccinase Deficiency	Skeletal muscle atrophy	OMIM:103050
Multiple Pterygium-Malignant Hyperthermia Syndrome	Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Camptodactyly of finger, Congenital ...	ORPHA:2215
Poliomyelitis	Skeletal muscle atrophy, Hypoplasia of the musculature, Abnormal skeletal muscle morphology, Uppe...	ORPHA:2912
Refsum Disease	Skeletal muscle atrophy	ORPHA:773
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Skeletal muscle atrophy, Flexion contracture	OMIM:300243
Osteogenesis Imperfecta, Type Xiii	Skeletal muscle atrophy	OMIM:614856
Donohue Syndrome	Skeletal muscle atrophy	OMIM:246200
Acth-Independent Macronodular Adrenal Hyperplasia	Skeletal muscle atrophy	OMIM:219080
Bardet-Biedl Syndrome	Skeletal muscle atrophy	ORPHA:110
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Skeletal muscle atrophy, Flexion contracture	OMIM:300232
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Calf muscle hypertrophy, Skeletal muscle atrophy, Flexion contracture, Congenital muscular dystrophy	OMIM:253800
Sting-Associated Vasculopathy, Infantile-Onset	Skeletal muscle atrophy, Myositis	OMIM:615934
Rett Syndrome	Skeletal muscle atrophy	OMIM:312750
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Limb-girdle muscle weakness, Rhabdomyolysis, Pelvic girdle muscle weakness	ORPHA:79240
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Type 2 muscle fiber predominance, Skeletal muscle atrophy	OMIM:615471
Combined Oxidative Phosphorylation Deficiency 55	Type 2 muscle fiber predominance, Skeletal muscle atrophy, Myopathy	OMIM:619743
Sandhoff Disease	Macroglossia, Skeletal muscle atrophy	OMIM:268800
Native American Myopathy	Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Congenital contracture, Campt...	ORPHA:168572
Hereditary Folate Malabsorption	Skeletal muscle atrophy	ORPHA:90045
7Q31 Microdeletion Syndrome	Skeletal muscle atrophy, Torticollis	ORPHA:251061
Pontocerebellar Hypoplasia, Type 7	Skeletal muscle atrophy	OMIM:614969
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	OMIM:617193
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Skeletal muscle atrophy	OMIM:615802
12Q14 Microdeletion Syndrome	Skeletal muscle atrophy	ORPHA:94063
Graft Versus Host Disease	Skeletal muscle atrophy, Myositis, Dupuytren contracture	ORPHA:39812
Neu-Laxova Syndrome	Skeletal muscle atrophy, Flexion contracture, Muscular dystrophy, Aplasia/Hypoplasia involving th...	ORPHA:2671
Coffin-Lowry Syndrome	Skeletal muscle atrophy	ORPHA:192
Tay-Sachs Disease	Skeletal muscle atrophy, Hip flexor weakness, Lower limb muscle weakness, Quadriceps muscle atrophy	ORPHA:845
Autosomal Recessive Multiple Pterygium Syndrome	Skeletal muscle atrophy, Aplasia/Hypoplasia of the abdominal wall musculature, Arthrogryposis mul...	ORPHA:2990
Recon Progeroid Syndrome	Skeletal muscle atrophy	OMIM:620370
Werner Syndrome	Skeletal muscle atrophy	ORPHA:902
Arthrogryposis And Ectodermal Dysplasia	Skeletal muscle atrophy, Joint contracture of the hand, Arthrogryposis multiplex congenita, Campt...	OMIM:601701
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Skeletal muscle atrophy, Limb joint contracture, Flexion contracture, Lower limb hypertonia, Gene...	OMIM:301072
Localized Scleroderma	Skeletal muscle atrophy, Flexion contracture, Myopathy	ORPHA:90289
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Skeletal muscle atrophy, Arthrogryposis multiplex congenita	ORPHA:496641
Farber Disease	Skeletal muscle atrophy, Flexion contracture	ORPHA:333
Leigh Syndrome	Myopathy, Multiple joint contractures, Skeletal muscle atrophy	ORPHA:506
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Skeletal muscle atrophy, Ragged-red muscle fibers, Flexion contracture, Rhabdomyolysis, Increased...	ORPHA:17
Pituitary Adenoma 4, Acth-Secreting	Skeletal muscle atrophy	OMIM:219090
Moebius Syndrome	Skeletal muscle atrophy, Aplasia of the pectoralis major muscle, Arthrogryposis multiplex congeni...	ORPHA:570
Congenital Myopathy 13	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Increased int...	OMIM:255995
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Increased sarcoplasmic glycogen	ORPHA:264580
Rett Syndrome	Skeletal muscle atrophy	ORPHA:778
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Skeletal muscle atrophy	OMIM:210210
Tbck-Related Intellectual Disability Syndrome	Macroglossia, Skeletal muscle atrophy, Diastasis recti	ORPHA:488632
Congenital Disorder Of Glycosylation, Type Iie	Skeletal muscle atrophy	OMIM:608779
Japanese Encephalitis	Skeletal muscle atrophy, Distal lower limb muscle weakness, Elbow flexion contracture, Facial palsy	ORPHA:79139
Autosomal Recessive Spastic Paraplegia Type 9B	Skeletal muscle atrophy	ORPHA:447760
Schwartz-Jampel Syndrome	Hip contracture, Skeletal muscle atrophy, Shoulder flexion contracture, Skeletal muscle hypertrop...	ORPHA:800
Triosephosphate Isomerase Deficiency	Skeletal muscle atrophy, Myopathy	OMIM:615512
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Skeletal muscle atrophy	OMIM:615895
Bannayan-Riley-Ruvalcaba Syndrome	Skeletal muscle atrophy, Myopathy	ORPHA:109
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Skeletal muscle atrophy, Flexion contracture	ORPHA:89842
Marden-Walker Syndrome	Skeletal muscle atrophy, Camptodactyly of finger, Muscular dystrophy, Arthrogryposis multiplex co...	ORPHA:2461
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Skeletal muscle atrophy, Myopathy, Type 1 muscle fiber predominance	OMIM:614557
Multiple System Atrophy 1, Susceptibility To	Skeletal muscle atrophy	OMIM:146500
Duane Retraction Syndrome	Skeletal muscle atrophy, Camptodactyly	ORPHA:233
Mitochondrial Complex I Deficiency, Nuclear Type 1	Skeletal muscle atrophy, Ragged-red muscle fibers, Increased intramyocellular lipid droplets	OMIM:252010
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Skeletal muscle atrophy	ORPHA:1969
Steinert Myotonic Dystrophy	Skeletal muscle atrophy, Abnormality of the tongue muscle, Abnormality of masticatory muscle, Fac...	ORPHA:273
Tick-Borne Encephalitis	Skeletal muscle atrophy, Facial palsy	ORPHA:297
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Skeletal muscle atrophy	OMIM:256810
Mitochondrial Complex I Deficiency, Nuclear Type 32	Skeletal muscle atrophy	OMIM:618252
Camurati-Engelmann Disease	Skeletal muscle atrophy	OMIM:131300
Cockayne Syndrome Type 3	Skeletal muscle atrophy, Flexion contracture	ORPHA:90324
Nijmegen Breakage Syndrome	Skeletal muscle atrophy, Rhabdomyosarcoma	ORPHA:647
Immunodeficiency 31C	Skeletal muscle atrophy	OMIM:614162
Kyphoscoliotic Ehlers-Danlos Syndrome	Skeletal muscle atrophy, Myopathy	ORPHA:536545
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Skeletal muscle atrophy, Flexion contracture, Camptodactyly	OMIM:309590
Cockayne Syndrome	Contractures of the large joints, Congenital contracture, Skeletal muscle atrophy, Limb hypertonia	ORPHA:191
Proteasome-Associated Autoinflammatory Syndrome 1	Skeletal muscle atrophy, Camptodactyly of finger, Flexion contracture, Elbow flexion contracture,...	OMIM:256040
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, Abnormality of the Achilles tendon, Skeletal muscle atrophy	ORPHA:79474
Camurati-Engelmann Disease	Skeletal muscle atrophy, Facial palsy	ORPHA:1328
Marfan Syndrome	Skeletal muscle atrophy	ORPHA:558
Pierson Syndrome	Skeletal muscle atrophy	OMIM:609049
Leprosy	Skeletal muscle atrophy, Foot dorsiflexor weakness	ORPHA:548
Stickler Syndrome	Macroglossia, Skeletal muscle atrophy	ORPHA:828
Leprechaunism	Skeletal muscle atrophy	ORPHA:508
Primrose Syndrome	Hip contracture, Skeletal muscle atrophy, Flexion contracture, Knee flexion contracture, Distal a...	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)	Ndnf^{tm1(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
Ndnf^{tm118194(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Ndnf^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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