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Gene: Mtm1 MGI:1099452

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

X-linked myotubular myopathy gene 1

Synonyms:

N/A

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 Mtm1 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 Mtm1 (3 diseases)
Human diseases predicted to be associated with Mtm1 (1872 diseases)

The table below shows human diseases associated to Mtm1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Weakness of ...	ORPHA:596
Myopathy, Centronuclear, X-Linked	Respiratory failure requiring assisted ventilation, Neonatal respiratory distress, Arachnodactyly...	OMIM:310400
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Cryptorchidism, Respiratory insufficiency	ORPHA:456328

The table below shows human diseases predicted to be associated to Mtm1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Miyoshi Myopathy	Distal lower limb amyotrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, Respira...	ORPHA:45448
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Waddling gait, Calf muscle pseudohypertrophy, Scapular winging, Reduced vital capacity, Neck flex...	OMIM:608358
Distal Nebulin Myopathy	Neck flexor weakness, Progressive distal muscle weakness, Ankle flexion contracture, Fatty replac...	ORPHA:399103
Hereditary Myopathy With Early Respiratory Failure	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Neck flexor weakness, Type ...	ORPHA:178464
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy	Distal lower limb amyotrophy, Quadriceps muscle atrophy, Quadriceps muscle weakness, Inability to...	ORPHA:482601
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Waddling gait, Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Neck flexor weakness,...	OMIM:254110
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 4	Distal lower limb amyotrophy, Hand muscle weakness, Intrinsic hand muscle atrophy, Distal upper l...	OMIM:613376
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Progressive distal muscle weakness, Respirato...	ORPHA:399058
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Waddling gait, Skeletal muscle atrophy, Reduced vital capacity, Distal muscle weakness, Ankle fle...	OMIM:617760
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Proximal muscle weakness in upper limbs, Fatigable weakness of distal limb muscles, Heart block, ...	ORPHA:98912
Myopathy, Sarcoplasmic Body	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency du...	OMIM:620286
Amyotrophic Lateral Sclerosis 27, Juvenile	Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Progressive muscle weakness...	OMIM:620285
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant	Waddling gait, Spinal muscular atrophy, Type 2 muscle fiber predominance, Proximal muscle weaknes...	OMIM:158600
Spinal Muscular Atrophy, Type Iv	Waddling gait, Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centr...	OMIM:271150
Distal Anoctaminopathy	Waddling gait, Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Peroneal m...	ORPHA:399096
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Overweight, Reduced forced vital capacity, Gowers sig...	OMIM:619178
Polyglucosan Body Myopathy 2	Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Distal muscle ...	OMIM:616199
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Waddling gait, Centrally nucleated skeletal muscle fibers, Cough, Limb-gird...	ORPHA:86812
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:301075
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Distal muscle weakness, Proxima...	OMIM:618655
Distal Myopathy With Anterior Tibial Onset	Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Progressive...	ORPHA:178400
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Reduced vital capacity, Distal muscle weakness, Autophagic vacuoles, Facial hypotonia, Proximal m...	ORPHA:266
Distal Myotilinopathy	Multiple joint contractures, Progressive distal muscle weakness, Progressive proximal muscle weak...	ORPHA:98911
Gne Myopathy	Fatty replacement of skeletal muscle, Quadriceps muscle weakness, Abnormality of the foot muscula...	ORPHA:602
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Muscle fiber inclusion bodies, Abdominal wall muscle weakness, Centrally nucleated skeletal muscl...	OMIM:615424
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Muscle fiber hyaline bodies, Limb-girdle muscle weakness, Type 1 muscle fib...	OMIM:255160
Myopathy, Scapulohumeroperoneal	Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Neck flexor weakness, Facial pals...	OMIM:616852
Myopathy, Distal, With Rimmed Vacuoles	Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa...	OMIM:617158
Charcot-Marie-Tooth Disease, Axonal, Type 2U	Hand muscle atrophy, Distal muscle weakness, Hand muscle weakness, Distal amyotrophy, Steppage ga...	OMIM:616280
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Scapular winging, Abdominal wall muscle weakness, Centrally nucleated skeletal muscle fibers, Fat...	OMIM:618129
Myopathy, Distal, 5	Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower...	OMIM:617030
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 5	Distal muscle weakness, Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Fir...	OMIM:600794
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Respirato...	OMIM:612999
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Distal muscle weakness, Progressive muscle weakness, Talipes cavus equin...	ORPHA:59135
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 5	Distal lower limb amyotrophy, Distal muscle weakness, Spinal muscular atrophy, Gait disturbance, ...	OMIM:614881
Finnish Upper Limb-Onset Distal Myopathy	Progressive distal muscle weakness, Fatty replacement of skeletal muscle, Progressive proximal mu...	ORPHA:399086
Congenital Myopathy 3 With Rigid Spine	Failure to thrive, Decreased body weight, Reduced vital capacity, Facial palsy, Neck flexor weakn...	OMIM:602771
Congenital Myopathy 10B, Mild Variant	Neck flexor weakness, Elbow contracture, Fatty replacement of skeletal muscle, Reduced forced vit...	OMIM:620249
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ...	ORPHA:2593
Myopathy And Diabetes Mellitus	Distal lower limb amyotrophy, Respiratory distress, Inability to walk, Achilles tendon contractur...	ORPHA:2596
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Premature ovarian insufficiency, Female infertility, Centrally nucleated skeletal muscle fibers, ...	OMIM:619518
Charcot-Marie-Tooth Disease, Axonal, Type 2W	Distal muscle weakness, Hammertoe, Steppage gait, Distal amyotrophy, Gait disturbance	OMIM:616625
Duchenne Muscular Dystrophy	Waddling gait, Skeletal muscle atrophy, Proximal muscle weakness, Progressive muscle weakness, Fl...	ORPHA:98896
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Hip contracture, Shoulder flexion contracture, Progressive muscle weakness, Respiratory insuffici...	OMIM:605355
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 9	Distal lower limb amyotrophy, Distal upper limb muscle weakness, Distal upper limb amyotrophy, Di...	OMIM:617721
Desminopathy	Neck flexor weakness, Supraventricular arrhythmia, Sudden cardiac death, Respiratory insufficienc...	ORPHA:98909
Charcot-Marie-Tooth Disease, Axonal, Type 2D	Distal muscle weakness, Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Fir...	OMIM:601472
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Scapular winging, Distal muscle weakness, Autophagic vacuoles, Centrally nucleated skeletal muscl...	OMIM:608423
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Clumsiness, Myopathy, Di...	ORPHA:603
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Proximal muscle weakness, Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal...	OMIM:618848
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, G...	OMIM:117000
Myopathy, Myofibrillar, 4	Autophagic vacuoles, Progressive distal muscle weakness, Progressive muscle weakness, Progressive...	OMIM:609452
Myopathy, Distal, Tateyama Type	Neck flexor weakness, Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic...	OMIM:614321
Charcot-Marie-Tooth Disease, Axonal, Type 2Dd	Steppage gait, Distal amyotrophy, Distal muscle weakness, Foot dorsiflexor weakness	OMIM:618036
Neuronopathy, Distal Hereditary Motor, X-Linked	Distal amyotrophy, Distal muscle weakness, Spinal muscular atrophy, Unsteady gait	OMIM:300489
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6	Scapular winging, Facial palsy, Generalized limb muscle atrophy, Proximal upper limb amyotrophy, ...	ORPHA:219
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d...	OMIM:609115
Inclusion Body Myopathy And Brain White Matter Abnormalities	Proximal muscle weakness in upper limbs, Scapular winging, Abdominal wall muscle weakness, Centra...	OMIM:619733
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Death in infancy, Poor head control, Cachexia, Spinal rigidity, Hyperlor...	ORPHA:157973
Nonaka Myopathy	Distal muscle weakness, Distal amyotrophy, Gait disturbance, EMG: myopathic abnormalities, Distal...	OMIM:605820
Amish Nemaline Myopathy	Hip contracture, Shoulder flexion contracture, Respiratory insufficiency due to muscle weakness, ...	ORPHA:98902
Spastic Paraplegia 38, Autosomal Dominant	Lower limb spasticity, Distal muscle weakness, Thenar muscle atrophy, Thenar muscle weakness, Bab...	OMIM:612335
Rigid Spine Syndrome	Waddling gait, Skeletal muscle atrophy, Hip contracture, Poor head control, Pneumonia, Hyperlordo...	ORPHA:97244
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Back pain, Scapular winging, Lumbar hyperlordosis, Pelvic girdle muscle atrophy, Facial palsy, Pe...	OMIM:167320
Oculopharyngodistal Myopathy	Loss of ambulation, Recurrent aspiration pneumonia, Foot dorsiflexor weakness, Distal lower limb ...	ORPHA:98897
Charcot-Marie-Tooth Disease, Axonal, Type 2Q	Skeletal muscle atrophy, Distal lower limb muscle weakness, Difficulty walking	OMIM:615025
Congenital Myopathy 4A, Autosomal Dominant	Bulbar palsy, Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, R...	OMIM:255310
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Poor head control, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Fl...	OMIM:300717
Charcot-Marie-Tooth Disease, Axonal, Type 2T	Distal lower limb amyotrophy, Unsteady gait, Distal lower limb muscle weakness, Foot dorsiflexor ...	OMIM:617017
Myasthenic Syndrome, Congenital, 14	Waddling gait, Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle w...	OMIM:616228
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Reduced forced vital capacit...	OMIM:617066
Nemaline Myopathy 7	Waddling gait, Lumbar hyperlordosis, Kyphoscoliosis, Fatty replacement of skeletal muscle, Nemali...	OMIM:610687
Welander Distal Myopathy	Steppage gait, Distal amyotrophy, Distal muscle weakness, Rimmed vacuoles	OMIM:604454
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant	Scapular winging, Distal muscle weakness, Neck flexor weakness, Centrally nucleated skeletal musc...	OMIM:601846
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Ankle flexion contracture, Proximal muscle weakness, Limb-girdle muscle weaknes...	OMIM:608099
Spinal Muscular Atrophy, Infantile, James Type	Hip contracture, Distal muscle weakness, Respiratory insufficiency, Distal amyotrophy, Type 1 mus...	OMIM:619042
Inclusion Body Myositis	Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red...	ORPHA:611
Rhabdomyolysis, Susceptibility To, 1	Distal muscle weakness, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Type 2 muscle...	OMIM:620235
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, ...	OMIM:618484
Muscular Dystrophy, Limb-Girdle, Type 1H	Proximal muscle weakness, Centrally nucleated skeletal muscle fibers, Calf muscle hypertrophy, Mu...	OMIM:613530
Myopathy, Centronuclear, 1	Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers...	OMIM:160150
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Skeletal muscle atrophy, Bulbar palsy, Progressive external ophthalmoplegia...	ORPHA:254875
Mitochondrial Myopathy With Diabetes	Ataxia, Facial palsy, Proximal muscle weakness, Ragged-red muscle fibers, Babinski sign, Limb mus...	OMIM:500002
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P...	OMIM:601954
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Li...	OMIM:616812
Congenital Myopathy 8	Reduced vital capacity, Internally nucleated skeletal muscle fibers, Distal muscle weakness, Prox...	OMIM:618654
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Weakness of ...	ORPHA:596
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Dilat...	OMIM:611705
Spastic Paraplegia 18B, Autosomal Recessive	Lower limb spasticity, Skeletal muscle atrophy, Inability to walk, Kyphosis, Babinski sign, Spast...	OMIM:611225
Spastic Paraplegia 62, Autosomal Recessive	Lower limb spasticity, Thoracic scoliosis, Skeletal muscle atrophy, Clonus, Babinski sign, Tip-to...	OMIM:615681
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Distal muscle weakness, Decreased forced expiratory flow 25-75%, Camptodactyly of finger, Ankle f...	OMIM:617072
Spastic Paraplegia 42, Autosomal Dominant	Skeletal muscle atrophy, Spastic gait, Muscle weakness	OMIM:612539
Amyotrophic Lateral Sclerosis Type 4	Skeletal muscle atrophy, Distal muscle weakness, Gait disturbance	ORPHA:357043
Marinesco-Sjogren Syndrome	Skeletal muscle atrophy, Short metacarpal, Ataxia, Short stature, Centrally nucleated skeletal mu...	OMIM:248800
Congenital Myopathy With Myasthenic-Like Onset	Scapular winging, Multiple joint contractures, Proximal muscle weakness, Respiratory insufficienc...	ORPHA:424107
Nemaline Myopathy 6	Skeletal muscle atrophy, Neck flexor weakness, Myopathy, Gait disturbance, Limb muscle weakness, ...	OMIM:609273
Myopathy, Myofibrillar, 5	Waddling gait, Proximal muscle weakness, Respiratory insufficiency, Muscle fiber cytoplasmatic in...	OMIM:609524
Spastic Paraplegia 73, Autosomal Dominant	Skeletal muscle atrophy, Proximal muscle weakness, Difficulty walking, Claw toe deformity	OMIM:616282
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers	OMIM:618992
Exercise Intolerance, Riboflavin-Responsive	Ragged-red muscle fibers	OMIM:616839
Multiminicore Myopathy	Proximal muscle weakness in upper limbs, Distal muscle weakness, Short stature, Abnormal muscle f...	ORPHA:598
Carnitine Deficiency, Myopathic	Myopathy, Reduced muscle carnitine level	OMIM:212160
Nemaline Myopathy 5C, Autosomal Dominant	Waddling gait, Skeletal muscle atrophy, Scapular winging, Poor head control, Slender build, Proxi...	OMIM:620389
Congenital Myopathy 20	Skeletal muscle atrophy, Scapular winging, Ulnar deviation of the hand, Failure to thrive, Elbow ...	OMIM:620310
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Wolff-Parkinson-White syndrome, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,...	OMIM:619566
Lethal Congenital Contracture Syndrome 4	Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture, Respiratory insufficie...	OMIM:614915
Myopathy, Centronuclear, 2	Waddling gait, Scapular winging, Distal muscle weakness, Facial palsy, Centrally nucleated skelet...	OMIM:255200
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Waddling gait, Proximal muscle weakness, Gowers sign, Dilated cardiomyopathy, Unsteady gait, Myop...	OMIM:612937
Combined Oxidative Phosphorylation Deficiency 49	Progressive muscle weakness, Ragged-red muscle fibers, Difficulty walking	OMIM:619024
Nemaline Myopathy 2	Skeletal muscle atrophy, Apnea, Neck flexor weakness, Fatty replacement of skeletal muscle, Flexi...	OMIM:256030
Myopathy, Centronuclear, 4	Muscle weakness, Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers	OMIM:614807
Autosomal Recessive Spastic Paraplegia Type 62	Lower limb spasticity, Thoracic scoliosis, Skeletal muscle atrophy, Clonus, Knee flexion contract...	ORPHA:401785
Bethlem Myopathy 1	Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Distal muscle weakness, Ca...	OMIM:158810
Bethlem Myopathy	Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ...	ORPHA:610
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle atrophy, Scapular winging, Proximal muscle weakness, Scapuloperoneal weakness, Ac...	OMIM:300696
Autosomal Recessive Centronuclear Myopathy	Waddling gait, Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal musc...	ORPHA:169186
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Hip contracture, Neck flexor weakness, Elbow contracture, Kyphoscoliosis, Spinal rigidity, Ankle ...	OMIM:620386
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Proximal muscle weakness, Prog...	OMIM:611588
Congenital Myopathy 23	Waddling gait, Skeletal muscle atrophy, Scapular winging, Reduced vital capacity, Gowers sign, Fl...	OMIM:609285
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Scapular winging, Reduced vital capacity, Neck flexor weakness, Proximal muscle weakness, Quadric...	OMIM:603689
Congenital Myopathy 18	Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Ophthalmoplegia...	OMIM:620246
Congenital Myopathy 9B, Proximal, With Minicore Lesions	Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Cryptorchidism,...	OMIM:618823
Myopathy, Myofibrillar, 3	Progressive distal muscle weakness, Proximal muscle weakness, Achilles tendon contracture, Cardio...	OMIM:609200
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Facial palsy, Respiratory insufficiency due to muscle weakness, Dilated car...	OMIM:300580
Spastic Paraplegia 43, Autosomal Recessive	Ankle flexion contracture, Knee flexion contracture, Distal amyotrophy, Gait disturbance, Loss of...	OMIM:615043
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr...	ORPHA:254361
Amyotrophic Lateral Sclerosis 8	Skeletal muscle atrophy, Distal muscle weakness, Proximal muscle weakness, Progressive muscle wea...	OMIM:608627
Autosomal Recessive Spastic Paraplegia Type 63	Skeletal muscle atrophy, Scissor gait, Decreased body weight	ORPHA:401805
Congenital Myopathy 1B, Autosomal Recessive	Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, External ophth...	OMIM:255320
Myopathy, Vacuolar, With Casq1 Aggregates	Muscle weakness, Muscle fiber calsequestrin 1-containing inclusion bodies, Proximal muscle weakness	OMIM:616231
Spinal Muscular Atrophy, Scapuloperoneal	Scapular muscle atrophy, Spinal muscular atrophy, Peroneal muscle atrophy	OMIM:271220
Cardiomyopathy, Dilated, 1X	Increased left ventricular end-diastolic volume, Proximal muscle weakness, Gowers sign, Dilated c...	OMIM:611615
Myasthenic Syndrome, Congenital, 17	Difficulty walking, Muscle weakness, Type 1 muscle fiber predominance	OMIM:616304
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Distal amyotrophy, Distal muscle weakness, Fiber type grouping	OMIM:614369
Spastic Paraplegia 77, Autosomal Recessive	Upper limb muscle weakness, Lower limb amyotrophy, Lower limb muscle weakness	OMIM:617046
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Weakness of facial musculature, Peroneal muscle atrophy, Scapuloperoneal weakness, Shoulder girdl...	OMIM:181400
Myopathy, Autophagic Vacuolar, Infantile-Onset	Myopathy, Autophagic vacuoles	OMIM:609500
Childhood-Onset Nemaline Myopathy	Flexion contracture, Increased muscle lipid content, Type 1 muscle fiber predominance, Waddling g...	ORPHA:171439
Klhl9-Related Early-Onset Distal Myopathy	Progressive distal muscle weakness, Ankle flexion contracture, Amyotrophy of ankle musculature, I...	ORPHA:399081
Muscular Atrophy, Malignant Neurogenic	Skeletal muscle atrophy, Respiratory paralysis	OMIM:158650
Myopathy, Centronuclear, 5	Hip contracture, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Ophthalmop...	OMIM:615959
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 8	Gowers sign, Calf muscle hypertrophy, Distal amyotrophy, Proximal muscle weakness	OMIM:618135
Lethal Congenital Contracture Syndrome 3	Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex congenita, Respira...	OMIM:611369
Congenital Myopathy 14	Hip contracture, Apnea, Proximal muscle weakness, Respiratory insufficiency due to muscle weaknes...	OMIM:618414
Myopathy, Distal, 4	Distal lower limb amyotrophy, Skeletal muscle atrophy, Proximal muscle weakness, Thenar muscle we...	OMIM:614065
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Poor head control, Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overw...	ORPHA:486815
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Distal muscle weakness, Tremor, Vocal cord paralysis, Distal amyotrophy, Difficulty walking, Voca...	OMIM:158580
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Pr...	OMIM:620138
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Distal muscle weakness, Spinal muscular atrophy, Proximal muscle weakness, Proximal amyotrophy, D...	OMIM:182980
Autosomal Recessive Spastic Paraplegia Type 76	Lower limb spasticity, Skeletal muscle atrophy, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, ...	ORPHA:488594
Congenital Myopathy 6 With Ophthalmoplegia	Waddling gait, Scapular winging, Muscle fiber inclusion bodies, Distal muscle weakness, Proximal ...	OMIM:605637
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Skeletal muscle atrophy, Generalized muscle weakness, Respiratory insuffici...	ORPHA:238329
Oculopharyngodistal Myopathy 2	Bulbar palsy, Distal muscle weakness, Fatty replacement of skeletal muscle, External ophthalmople...	OMIM:618940
Inclusion Body Myositis	Inflammatory myopathy, Rimmed vacuoles	OMIM:147421
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Progressive external ophthalmoplegia, Hyperlordosis, Dyspnea, Gowers sign, Ophthalmoparesis, Myop...	OMIM:615156
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Poor head control, Facial palsy, Camptodactyly of finger, Diaphragmatic par...	OMIM:614399
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant	Waddling gait, Distal muscle weakness, Proximal muscle weakness, Proximal amyotrophy, Hammertoe, ...	OMIM:616040
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Scapular winging, Angulated muscle fibers, Proximal muscle weakness, Shoulder girdle muscle weakn...	OMIM:619477
Spastic Paraplegia 63, Autosomal Recessive	Skeletal muscle atrophy, Short stature, Clonus, Spastic paraplegia, Scissor gait, Babinski sign, ...	OMIM:615686
Dna2-Related Mitochondrial Dna Deletion Syndrome	Progressive external ophthalmoplegia, Multiple joint contractures, Hyperlordosis, Limb-girdle mus...	ORPHA:352470
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 1	Upper limb muscle weakness, Hammertoe, Distal muscle weakness, Distal amyotrophy	OMIM:182960
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Gowers sign, Increase...	OMIM:613204
Spinal Muscular Atrophy, Jokela Type	Skeletal muscle atrophy, Spinal muscular atrophy, Calf muscle hypertrophy, Hammertoe, Difficulty ...	OMIM:615048
Zebra Body Myopathy	Waddling gait, Torticollis, Distal muscle weakness, Autophagic vacuoles, Facial palsy, Proximal m...	ORPHA:97240
Adult-Onset Nemaline Myopathy	Reduced vital capacity, Neck flexor weakness, Respiratory insufficiency due to muscle weakness, F...	ORPHA:171442
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Gowers sign, Knee flexion contracture, Axial muscle weakness, Steppage gait, Lower limb muscle we...	OMIM:615290
Spastic Paraplegia 57, Autosomal Recessive	Hand muscle atrophy, Loss of ambulation, Lower limb amyotrophy, Muscle weakness	OMIM:615658
Myosclerosis, Autosomal Recessive	Skeletal muscle atrophy, Lumbar hyperlordosis, Short stature, Thoracolumbar scoliosis, Facial pal...	OMIM:255600
Congenital Myopathy 4B, Autosomal Recessive	Distal lower limb amyotrophy, Proximal muscle weakness, Flexion contracture, Generalized muscle w...	OMIM:609284
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Skeletal muscle atrophy, Ataxia, Tremor, Babinski sign, Flexion contracture, Spasticity, Muscle w...	OMIM:611105
Myopathy, Myofibrillar, 6	Thoracic scoliosis, Scapular winging, Distal muscle weakness, Facial palsy, Spinal rigidity, Redu...	OMIM:612954
Bethlem Myopathy 2	Scapular winging, Proximal muscle weakness, Kyphosis, Flexion contracture, Myopathy, Scoliosis, I...	OMIM:616471
Arthrogryposis Multiplex Congenita 2, Neurogenic Type	Skeletal muscle atrophy, Congenital contracture, Arthrogryposis multiplex congenita, Myopathy	OMIM:208100
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Progressive external ophthalmoplegia, Premature ovarian insufficiency, Proximal muscle weakness, ...	OMIM:609286
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Skeletal muscle atrophy, Distal muscle weakness, Paralysis, Lower-limb joint contracture, Talipes...	OMIM:613710
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Respiratory failure requiring assisted ventilation, Poor head control, Nemaline bodies, Generaliz...	OMIM:620265
Myopathy, Myofibrillar, 8	Scapular winging, Reduced vital capacity, Centrally nucleated skeletal muscle fibers, Proximal mu...	OMIM:617258
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Distal muscle weakness, Proximal muscle weakness, Fatty replacement of s...	OMIM:608807
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Skeletal muscle atrophy, Proximal muscle weakness, Muscular dystrophy, Loss of ambulation, Increa...	OMIM:253601
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Proximal muscle weakness in upper limbs, Neck flexor weakness, Ragged-red muscle fibers, Proximal...	ORPHA:457050
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Hypoglycosylation of alpha-dystroglycan, Ataxia, Proximal muscle weakness, ...	OMIM:620166
Congenital Myopathy 2A, Typical, Autosomal Dominant	Neck flexor weakness, Hypertonia, Type 1 muscle fiber predominance, Waddling gait, Bulbar palsy, ...	OMIM:161800
Congenital Myasthenic Syndromes With Glycosylation Defect	Waddling gait, Scapular winging, Lumbar hyperlordosis, Poor head control, Facial palsy, Distal mu...	ORPHA:353327
Myopathy, Tubular Aggregate, 1	Proximal muscle weakness, External ophthalmoplegia, Flexion contracture, Type 2 muscle fiber atro...	OMIM:160565
Distal Hereditary Motor Neuropathy Type 5	Thenar muscle atrophy, Thenar muscle weakness, Unsteady gait, First dorsal interossei muscle weak...	ORPHA:139536
Proximal Myopathy With Extrapyramidal Signs	Ataxia, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Ophthalmoplegia, Ca...	ORPHA:401768
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Ataxia, Ragged-red muscle fibers, Myopathy, Myoclonus, Spasticity, Muscle weakness	OMIM:545000
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Waddling gait, Bulbar palsy, Facial palsy, Dyspnea, Gowers sign, Flexion contracture, Shoulder gi...	OMIM:603511
Myopathy, Distal, 1	Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Distal muscle weakness, Facial palsy, ...	OMIM:160500
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Progressive distal muscle weakness, Increased variability in muscl...	ORPHA:488650
Myasthenic Syndrome, Congenital, 5	Decreased muscle mass, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Generaliz...	OMIM:603034
Spastic Paraplegia 31, Autosomal Dominant	Lower limb spasticity, Skeletal muscle atrophy, Babinski sign, Spastic paraplegia, Ankle clonus, ...	OMIM:610250
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus	Skeletal muscle atrophy, Ataxia	OMIM:158500
Autosomal Recessive Spastic Paraplegia Type 43	Distal muscle weakness, Ankle flexion contracture, Babinski sign, Knee flexion contracture, Poor ...	ORPHA:320370
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur...	OMIM:620068
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in upper limbs, Tremor, Inability to walk, Ragged-red muscle fibers, Int...	ORPHA:276435
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Bulbar palsy, Sudden episodic apnea, Respiratory insufficiency due to muscl...	OMIM:605809
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Large for ge...	ORPHA:169189
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Generalized muscle weakne...	ORPHA:34516
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Bulbar palsy, Sudden episodic apnea, Respiratory insufficiency due to muscl...	OMIM:254210
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Waddling gait, Proximal muscle weakness in lower limbs, Myopathy, Gait disturbance, Increased var...	ORPHA:1878
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2	Distal muscle weakness, Upper limb muscle weakness, Distal amyotrophy, Steppage gait, Foot dorsif...	OMIM:302801
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Progressive external ophthalmoplegia, Respiratory insufficiency due to muscle weakness, Progressi...	ORPHA:663
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6	Lower limb muscle weakness, Spinal muscular atrophy, Proximal muscle weakness, Difficulty walking...	OMIM:615575
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Waddling gait, Proximal muscle weakness, Babinski sign, Ragged-red muscle fibers, Lower limb amyo...	OMIM:616924
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Flexion contracture, ...	OMIM:300718
Acetyl-Coa Carboxylase Deficiency	Myopathy	OMIM:613933
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress, Ataxia, Kyphoscoliosis, Tremor, Distal amyotrophy	OMIM:619099
Oculopharyngeal Muscular Dystrophy	Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology	ORPHA:270
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Skeletal muscle atrophy, Ataxia, Respiratory insufficiency due to muscle weakness, Inability to w...	OMIM:618276
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7	Proximal muscle weakness in upper limbs, Scapular winging, Flexion contracture, Proximal muscle w...	OMIM:619216
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Waddling gait, Distal muscle weakness, Spinal muscular atrophy, Proximal muscle weakness, Scapulo...	OMIM:611067
Myasthenic Syndrome, Congenital, 12	Waddling gait, Facial palsy, Proximal muscle weakness, Gowers sign, Ragged-red muscle fibers, Pro...	OMIM:610542
X-Linked Charcot-Marie-Tooth Disease Type 3	Distal lower limb amyotrophy, Progressive distal muscle weakness, Hand muscle weakness, Tremor, I...	ORPHA:101077
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3	Reduced vital capacity, Spinal muscular atrophy, Diaphragmatic weakness, Distal amyotrophy, Dista...	OMIM:607088
Myasthenic Syndrome, Congenital, 25, Presynaptic	Poor head control, Spinal rigidity, Kyphosis, Flexion contracture, Myopathy, Generalized amyotrop...	OMIM:618323
Scapuloperoneal Myopathy, X-Linked Dominant	Waddling gait, Skeletal muscle atrophy, Scapular winging, Proximal muscle weakness, Achilles tend...	OMIM:300695
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16	Waddling gait, Calf muscle pseudohypertrophy, Reduced muscle fiber alpha dystroglycan, Ankle flex...	ORPHA:280333
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Lower limb spasticity, Short stature, Spinal rigidity, Hyperlordosis, Kyphosis, Gowers sign, Prox...	OMIM:617404
Congenital Muscular Dystrophy, Ullrich Type	Short neck, Flexion contracture, Knee flexion contracture, Generalized amyotrophy, Long toe, Scol...	ORPHA:75840
Miyoshi Muscular Dystrophy 1	Distal muscle weakness, Distal amyotrophy, Tip-toe gait, Muscular dystrophy, Lower limb muscle we...	OMIM:254130
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Kyphosis, Upper limb ...	OMIM:617087
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Skeletal muscle atrophy, Distal muscle weakness, Diaphragmatic paralysis, P...	OMIM:620011
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
Myopathy, Myofibrillar, 2	Orthopnea, Distal muscle weakness, Respiratory insufficiency due to muscle weakness, Limb-girdle ...	OMIM:608810
Spinal Muscular Atrophy, Facioscapulohumeral Type	Skeletal muscle atrophy, Spinal muscular atrophy	OMIM:182970
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Skeletal muscle atrophy, Poor head control, Facial palsy, Ophthalmoplegia, Flexion contracture, K...	OMIM:616313
Myasthenic Syndrome, Congenital, 10	Waddling gait, Reduced vital capacity, Bulbar palsy, Respiratory insufficiency due to muscle weak...	OMIM:254300
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D	Distal muscle weakness, Upper limb muscle weakness, Distal amyotrophy, Steppage gait, Foot dorsif...	OMIM:607678
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3	Paresis of extensor muscles of the big toe, Distal lower limb muscle weakness, Difficulty walking...	OMIM:608634
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra...	ORPHA:206549
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Neck flexor weakness, Facial p...	OMIM:616209
Charcot-Marie-Tooth Disease, Axonal, Type 2H	Steppage gait, Distal amyotrophy, Distal muscle weakness, Foot dorsiflexor weakness	OMIM:607731
Charcot-Marie-Tooth Disease, Axonal, Type 2I	Upper limb muscle weakness, Distal amyotrophy, Distal muscle weakness, Steppage gait	OMIM:607677
Pontocerebellar Hypoplasia, Type 1C	Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency, Respiratory failure,...	OMIM:616081
Muscle Filaminopathy	Scapular winging, Neck flexor weakness, Fatty replacement of skeletal muscle, Left ventricular di...	ORPHA:171445
Mitochondrial Complex I Deficiency, Nuclear Type 25	Myopathy, Failure to thrive, Nemaline bodies	OMIM:618246
Neuropathy, Hereditary Motor And Sensory, Russe Type	Distal lower limb amyotrophy, Distal muscle weakness, Claw hand deformity, Paralysis, Distal uppe...	OMIM:605285
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Gowers sign, Flexion contractu...	OMIM:253700
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Waddling gait, Scapular winging, Calf muscle pseudohypertrophy, Neck flexor weakness, Broad-based...	ORPHA:353
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Distal muscle wea...	OMIM:600175
Merrf	Myopathy, Ragged-red muscle fibers	ORPHA:551
Dysequilibrium Syndrome	Skeletal muscle atrophy, Cerebral palsy, Short stature, Ataxia, Gait disturbance	ORPHA:1766
Autosomal Dominant Spastic Paraplegia Type 4	Lower limb spasticity, Ataxia, Babinski sign, Ankle clonus, Distal amyotrophy, Leg muscle stiffne...	ORPHA:100985
Myopathy, Distal, With Anterior Tibial Onset	Loss of ambulation, Myopathy, Proximal muscle weakness	OMIM:606768
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Skeletal muscle atrophy, Respiratory distress, Vocal cord paralysis, Tongue ...	OMIM:211530
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Distal muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy...	OMIM:619574
Moderate Multiminicore Disease With Hand Involvement	Facial palsy, Generalized muscle weakness, Intrinsic hand muscle atrophy, Axial muscle weakness, ...	ORPHA:178145
Juvenile Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Neck flexor weakness, Clonus, Chorea, Upper-limb joint contracture, Opis...	ORPHA:300605
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Progressive external ophthalmoplegia, Ataxia, Cachexia, Ragged-red muscle fibers, Generalized mus...	OMIM:613662
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates	Myopathy	ORPHA:88635
Congenital Myopathy 15	Waddling gait, Tricuspid regurgitation, Fatty replacement of skeletal muscle, Reduced forced vita...	OMIM:620161
Fingerprint Body Myopathy	Myopathy	OMIM:305550
Batten-Turner Congenital Myopathy	Myopathy	OMIM:255300
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Hand muscle atrophy, Distal muscle weakness, Hand muscle weakness, Vocal cord paralysis, Distal a...	OMIM:607641
Spinocerebellar Ataxia Type 43	Unsteady gait, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Distal amyotrophy, Distal...	ORPHA:497764
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff	Distal lower limb amyotrophy, Weak grip, Distal amyotrophy, Distal upper limb amyotrophy, Wrist d...	OMIM:619519
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy	Claw hand deformity, Lower limb muscle weakness, Upper limb muscle weakness, Hammertoe, Lower lim...	OMIM:618511
Multifocal Motor Neuropathy	Progressive muscle weakness, Limb muscle weakness, Weakness of long finger extensor muscles, Prog...	ORPHA:641
Spinal Muscular Atrophy, Type Iii	Pelvic girdle amyotrophy, Spinal muscular atrophy, Proximal muscle weakness, Distal amyotrophy, S...	OMIM:253400
Oculopharyngodistal Myopathy 3	Internally nucleated skeletal muscle fibers, Ataxia, Ophthalmoplegia, Increased variability in mu...	OMIM:619473
Cardiomyopathy Associated With Myopathy And Sudden Death	Myopathy	OMIM:212130
Autosomal Spastic Paraplegia Type 30	Ataxia, Unsteady gait, Scissor gait, Distal amyotrophy, Leg muscle stiffness, Spastic gait	ORPHA:101010
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Hand muscle atrophy, Distal muscle weakness, Facial palsy, Flexion contracture, Distal amyotrophy...	OMIM:607684
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Skeletal muscle atrophy, Atrial fibrillation, Proximal muscle weakness, Proximal amyotrophy, Musc...	OMIM:614302
Benign Samaritan Congenital Myopathy	Internally nucleated skeletal muscle fibers, Abnormal respiratory system physiology, Centrally nu...	ORPHA:324581
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Scapular winging, Progressive muscle weakness, Gowers sign, Ragged-red muscle fibers, Generalized...	OMIM:600462
Muscular Dystrophy, Congenital, 1B	Facial palsy, Gowers sign, Achilles tendon contracture, Generalized muscle hypertrophy, Diaphragm...	OMIM:604801
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7	Hypoglycosylation of alpha-dystroglycan, Scapular winging, Reduced forced vital capacity, Macrogl...	OMIM:616052
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ...	OMIM:302045
Hereditary Motor And Sensory Neuropathy V	Distal muscle weakness, Babinski sign, Abnormal pyramidal sign, Limb muscle weakness, Distal amyo...	OMIM:600361
Facial Onset Sensory And Motor Neuronopathy	Skeletal muscle atrophy, Muscle weakness	ORPHA:85162
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Total ophthalmoplegia, Skeletal muscle atrophy, Progressive external ophthalmoplegia, Premature o...	OMIM:157640
Neuropathy, Congenital Hypomyelinating, 2	Skeletal muscle atrophy, Poor head control, Respiratory insufficiency due to muscle weakness, Ina...	OMIM:618184
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Skeletal muscle atrophy, Elbow contracture, Vertebral fusion, Facial palsy, Hyperlordosis, Restri...	OMIM:606612
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Myopathy	ORPHA:206599
Myopathy, X-Linked, With Excessive Autophagy	Skeletal muscle atrophy, Gowers sign, Flexion contracture, Respiratory insufficiency, Proximal mu...	OMIM:310440
Triosephosphate Isomerase Deficiency	Respiratory distress, Skeletal muscle atrophy, Death in infancy, Tremor, Kyphosis, Respiratory in...	OMIM:615512
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al...	ORPHA:352479
Muscular Dystrophy, Congenital, Lmna-Related	Hip contracture, Paroxysmal atrial fibrillation, Elbow contracture, Scapuloperoneal amyotrophy, R...	OMIM:613205
Charcot-Marie-Tooth Disease, Axonal, Type 2N	Distal lower limb amyotrophy, Skeletal muscle atrophy, Distal muscle weakness, Hammertoe, Lower l...	OMIM:613287
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low...	OMIM:613954
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy	Distal lower limb amyotrophy, Waddling gait, Distal muscle weakness, Congenital foot contraction ...	ORPHA:363454
Amyotonia Congenita	Skeletal muscle atrophy	OMIM:205000
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Respiratory failure requiring assisted ventilation, Ragged-red muscle fiber...	ORPHA:254864
Amyotrophic Lateral Sclerosis 21	Bulbar palsy, Distal muscle weakness, Centrally nucleated skeletal muscle fibers, Hand muscle wea...	OMIM:606070
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Scapular winging, Reduced muscle fiber alpha dystroglycan, Fatigable weakness of skeletal muscles...	ORPHA:206559
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Short neck, Vocal cord paralysis, Decreased cervical spine flexion due to contractures...	ORPHA:98863
Myopathy, Distal, 3	Distal muscle weakness, Split hand, Clumsiness, Distal amyotrophy, Steppage gait, Muscular dystro...	OMIM:610099
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe...	OMIM:618138
Typical Nemaline Myopathy	Neck flexor weakness, Short neck, Fatigable weakness of distal limb muscles, Limb-girdle muscle w...	ORPHA:171436
Congenital Muscular Dystrophy Without Intellectual Disability	Kyphoscoliosis, Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Ac...	ORPHA:370980
Scapuloperoneal Spinal Muscular Atrophy	Progressive distal muscular atrophy, Peroneal muscle atrophy, Gowers sign, Amyoplasia, Scapular w...	OMIM:181405
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia	ORPHA:1216
Charcot-Marie-Tooth Disease, Dominant Intermediate C	Distal muscle weakness, Hand muscle weakness, Upper limb muscle weakness, Distal amyotrophy, Diff...	OMIM:608323
Riboflavin Transporter Deficiency	Skeletal muscle atrophy, Bulbar palsy, Ataxia, Facial palsy, Cachexia, Tremor, Respiratory insuff...	ORPHA:97229
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers,...	OMIM:613561
Mitochondrial Myopathy, Infantile, Transient	Facial palsy, Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Increas...	OMIM:500009
Nemaline Myopathy 10	Skeletal muscle atrophy, Bulbar palsy, Facial palsy, Fatty replacement of skeletal muscle, Respir...	OMIM:616165
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Neck flexor weakness, Weakness of long finger extensor muscles, Upper li...	ORPHA:98913
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y	Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Distal muscle wea...	ORPHA:435387
Cap Myopathy	Poor head control, Reduced systolic function, Facial palsy, Central hypoventilation, Abnormal mus...	ORPHA:171881
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle...	OMIM:604286
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans	Myopathy, Scapulohumeral muscular dystrophy	OMIM:160570
Spinocerebellar Ataxia 43	Distal amyotrophy, Ataxia, Limb ataxia, Gait ataxia	OMIM:617018
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Ragged-red muscle fibers, Dysmetria, Gait ataxia, Progressive gait ataxi...	OMIM:607459
Charcot-Marie-Tooth Disease, Axonal, Type 2X	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Postural tremor, Kyphoscol...	OMIM:616668
Gemignani Syndrome	Skeletal muscle atrophy, Abnormal testis morphology, Ataxia	ORPHA:2074
Emery-Dreifuss Muscular Dystrophy	Back pain, Vocal cord paralysis, Decreased cervical spine flexion due to contractures of posterio...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Vocal cord paralysis, Decreased cervical spine flexion due to contractures of posterio...	ORPHA:98853
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Skeletal muscle atrophy, Hip contracture, Distal muscle weakness, Interphal...	ORPHA:1145
Roussy-Lévy Syndrome	Skeletal muscle atrophy, Postural tremor, Kyphoscoliosis, Unsteady gait, Babinski sign, Limb atax...	ORPHA:3115
Central Core Disease	Neonatal respiratory distress, Multiple joint contractures, Kyphoscoliosis, Respiratory insuffici...	ORPHA:597
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency	Myopathy, Muscle weakness, Respiratory insufficiency	OMIM:616314
Congenital Myopathy 16	Scapular winging, Lumbar hyperlordosis, Postural tremor, Distal muscle weakness, Spinal rigidity,...	OMIM:618524
Congenital Myopathy 22A, Classic	Waddling gait, Hip contracture, Scapular winging, Tricuspid regurgitation, Centrally nucleated sk...	OMIM:620351
King-Denborough Syndrome	Centrally nucleated skeletal muscle fibers, Bilateral cryptorchidism, Cryptorchidism, Proximal mu...	OMIM:619542
Tibial Muscular Dystrophy, Tardive	EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles	OMIM:600334
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Proximal muscle weakness, Fatty replacement of skeletal muscle, Respiratory insufficiency, Myopat...	OMIM:255100
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Skeletal muscle atrophy, Scapular winging, Progressive external ophthalmoplegia, Proximal muscle ...	OMIM:617069
Combined Oxidative Phosphorylation Deficiency 6	Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Ragged-red muscle fibe...	OMIM:300816
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Flexion contracture, Axial ...	ORPHA:98905
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2	Distal muscle weakness, Paresis of extensor muscles of the big toe, Distal lower limb muscle weak...	OMIM:158590
Mitochondrial Complex I Deficiency, Nuclear Type 21	Ataxia, Babinski sign, Ragged-red muscle fibers, Growth delay, Myopathy, Difficulty walking, Spas...	OMIM:618242
Congenital Myopathy 24	Waddling gait, Scapular winging, Reduced vital capacity, Facial palsy, First degree atrioventricu...	OMIM:617336
Nemaline Myopathy 8	Death in infancy, Facial palsy, Flexion contracture, Ophthalmoparesis, Respiratory failure, Myofi...	OMIM:615348
Spinal Muscular Atrophy, Type I	Poor head control, Spinal muscular atrophy, Respiratory insufficiency, Proximal amyotrophy, Proxi...	OMIM:253300
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Hammertoe, Steppage gait,...	OMIM:608340
Neutral Lipid Storage Disease With Myopathy	Short stature, Proximal muscle weakness, Gowers sign, Increased muscle lipid content, Myopathy, F...	OMIM:610717
Sandhoff Disease, Adult Form	Tremor, Gait ataxia, Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Fascicu...	ORPHA:309169
Cardiomyopathy, Dilated, 1Gg	Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ...	OMIM:613642
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Thenar muscle atrophy, Dilated cardiomyopathy, Dysmetria, Dysdiadochokinesis, Distal lower limb m...	OMIM:619903
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Myopathy	ORPHA:2579
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Waddling gait, Broad-based gait, Gowers sign, Calf muscle hypertrophy, Myopathy, Cardiomyopathy, ...	ORPHA:119
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Chorea, Progressive proximal muscle weakness, Truncal ataxia, Myopathy, Restrictive ventilatory d...	ORPHA:369847
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Skeletal muscle atrophy, Progressive distal muscular atrophy, Facial palsy, Spinal muscular atrop...	OMIM:159950
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2	Distal muscle weakness, Claw hand deformity, Spinal muscular atrophy, Distal amyotrophy, Hammerto...	OMIM:605726
Lethal Congenital Contracture Syndrome 5	Small for gestational age, Centrally nucleated skeletal muscle fibers, Flexion contracture, Subdu...	OMIM:615368
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Myopathy	OMIM:613076
Giant Axonal Neuropathy 2, Autosomal Dominant	Distal muscle weakness, Cardiomyopathy, Hammertoe, Steppage gait, Distal amyotrophy	OMIM:610100
Mitochondrial Complex I Deficiency, Nuclear Type 15	Kyphosis, Flexion contracture, Spastic tetraplegia, Myopathy, Neonatal death, Intrauterine growth...	OMIM:618237
Spastic Paraplegia 64, Autosomal Recessive	Skeletal muscle atrophy, Spastic paraplegia, Gait disturbance, Talipes equinovarus, Delayed puber...	OMIM:615683
Mitochondrial Dna Depletion Syndrome 18	Hand muscle atrophy, Distal muscle weakness, Clonus, Proximal muscle weakness, Reduced forced vit...	OMIM:618811
Charcot-Marie-Tooth Disease, Dominant Intermediate G	Waddling gait, Distal muscle weakness, Ataxia, Lower limb muscle weakness, Proximal muscle weakne...	OMIM:617882
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Wa...	ORPHA:98855
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Myopathy, Hypertonia, Intrauterine growth retardation, Failure to thrive, L...	ORPHA:26792
Adult-Onset Distal Myopathy Due To Vcp Mutation	Back pain, Scapular winging, Abnormality of the musculature of the lower limbs, Reduced vital cap...	ORPHA:329478
Congenital Disorder Of Glycosylation, Type Iid	Myopathy, Decreased muscle mass	OMIM:607091
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea...	OMIM:181350
X-Linked Charcot-Marie-Tooth Disease Type 4	Skeletal muscle atrophy, Distal muscle weakness, Ataxia, Tremor, Kyphosis, Gait disturbance, Scol...	ORPHA:101078
Combined Oxidative Phosphorylation Deficiency 8	Congestive heart failure, Generalized muscle weakness, Reduced left ventricular ejection fraction...	OMIM:614096
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Distal muscle weakness, Hammertoe, Distal amyotrophy, Gait disturbance, Ulnar claw, Foot dorsifle...	OMIM:618400
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo...	ORPHA:70589
Facioscapulohumeral Muscular Dystrophy 1	Skeletal muscle atrophy, Scapular winging, Abdominal wall muscle weakness, Facial palsy, Retinal ...	OMIM:158900
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2	EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy	OMIM:609283
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Hand muscle atrophy, Skeletal muscle atrophy, Distal muscle weakness, Proximal muscle weakness, G...	ORPHA:99944
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Skeletal muscle atrophy, Progressive external ophthalmoplegia, Broad-based gait, Ataxia, Ophthalm...	OMIM:616479
Juvenile Primary Lateral Sclerosis	Skeletal muscle atrophy, Spastic tetraparesis, Abnormal pyramidal sign, Spastic dysarthria, Gait ...	ORPHA:247604
Spastic Paraplegia 70, Autosomal Recessive	Skeletal muscle atrophy, Achilles tendon contracture, Growth delay, Ankle clonus, Fasciculations,...	OMIM:620323
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Skeletal muscle atrophy, Myopathy	ORPHA:2597
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Increased variability in muscle fiber diameter, Ataxia, Failure to thrive in infancy, Increased i...	OMIM:619065
Rett Syndrome	Skeletal muscle atrophy, Short stature, Apnea, Intermittent hyperventilation, Cachexia, Kyphosis,...	OMIM:312750
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Distal muscle weakness, Facial palsy, Hammertoe, Distal amyotrophy, Steppage gait, Limb muscle we...	OMIM:118210
Glycogen Storage Disease Ixd	Skeletal muscle atrophy, Distal muscle weakness, Glycogen accumulation in muscle fiber lysosomes,...	OMIM:300559
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Flexion contracture, Generalized muscle w...	ORPHA:171433
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Waddling gait, Skeletal muscle atrophy, Absent P wave, First degree atrioventricular block, Sudde...	OMIM:310300
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased variability in muscle fiber diameter, Poor head control, Failure to thrive, Cardiomyopathy	OMIM:613752
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Ataxia, Cachexia, Proximal muscle weakness, Fatigable weakness, Myopathy...	ORPHA:42
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Distal lower limb amyotrophy, Failure to thrive in infancy, Intrinsic hand muscle atrophy, Upper ...	ORPHA:90103
Legg-Calvé-Perthes Disease	Skeletal muscle atrophy	ORPHA:2380
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Skeletal muscle atrophy, Progressive external ophthalmoplegia, Distal muscle weakness, Proximal m...	OMIM:617070
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Low-output congestive heart failure, Myopathy, Hypertrophic cardiomyopathy,...	ORPHA:91130
Congenital Fiber-Type Disproportion Myopathy	Progressive muscle weakness, Flexion contracture, Knee flexion contracture, Aspiration pneumonia,...	ORPHA:2020
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6	Scapular winging, Proximal muscle weakness, Gowers sign, Proximal amyotrophy, Calf muscle hypertr...	OMIM:601287
Spinal Muscular Atrophy, X-Linked 2	Multiple joint contractures, Facial palsy, Spinal muscular atrophy, Respiratory insufficiency due...	OMIM:301830
Spinal Muscular Atrophy With Mental Retardation	Syndactyly, Spinal muscular atrophy	OMIM:271109
Duane Anomaly-Myopathy-Scoliosis Syndrome	Proportionate short stature, Myopathy, Scoliosis	ORPHA:50817
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Reduced muscle collagen VI, Facial palsy, Increased laxity of fingers, Slender build...	OMIM:254090
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Distal amyotrophy, Distal muscle weakness	OMIM:608673
Infantile Refsum Disease	Ataxia, Facial palsy, Progressive muscle weakness, Cardiomyopathy, Arrhythmia, Failure to thrive	ORPHA:772
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Skeletal muscle atrophy, Tachycardia, Glycogen accumulation in muscle fiber lysosomes, Progressiv...	ORPHA:368
Oculopharyngodistal Myopathy 1	Respiratory distress, Paroxysmal atrial fibrillation, Reduced forced vital capacity, Aspiration, ...	OMIM:164310
Autosomal Recessive Progressive External Ophthalmoplegia	Scapular winging, Ataxia, Facial palsy, Hand muscle weakness, External ophthalmoplegia, Proximal ...	ORPHA:254886
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1	Scapular winging, Pelvic girdle amyotrophy, Ankle flexion contracture, Spinal rigidity, Hyperlord...	ORPHA:267
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Skeletal muscle atrophy, Hand muscle weakness, Axial muscle weakness, Type ...	ORPHA:98915
Ataxia-Telangiectasia-Like Disorder 2	Conjunctival telangiectasia, Ataxia, Congenital diaphragmatic hernia, Progressive muscle weakness...	OMIM:615919
Spastic Paraplegia 76, Autosomal Recessive	Lower limb spasticity, Skeletal muscle atrophy, Ataxia, Babinski sign, Spastic paraplegia, Dysmet...	OMIM:616907
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Upper limb muscle weakness, Distal amyotrophy, Distal muscle weakness, Respiratory insufficiency	OMIM:605253
X-Linked Charcot-Marie-Tooth Disease Type 1	Distal lower limb amyotrophy, Ataxia, Tremor, Kyphosis, Distal upper limb amyotrophy, Gait distur...	ORPHA:101075
Classic Multiminicore Myopathy	Absent muscle fiber merosin, Multiple joint contractures, Poor head control, Right ventricular fa...	ORPHA:324604
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Myopathy	ORPHA:366
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg	Distal muscle weakness, Thenar muscle atrophy, Distal amyotrophy, Hammertoe, Steppage gait, Diffi...	OMIM:606483
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress, Kyphoscoliosis, Inability to walk, Spastic paraplegia, Spastic tetraplegia,...	OMIM:617977
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Steppage gait, Hammertoe, Distal muscle weakness, Distal amyotrophy	OMIM:615376
Charcot-Marie-Tooth Disease Type 1A	Skeletal muscle atrophy, Distal muscle weakness, Diaphragmatic weakness, Calf muscle hypertrophy,...	ORPHA:101081
Charcot-Marie-Tooth Disease, Axonal, Type 2B2	Distal amyotrophy, Distal muscle weakness	OMIM:605589
Charcot-Marie-Tooth Disease And Deafness	Distal muscle weakness, Thenar muscle atrophy, Ankle weakness, Thenar muscle weakness, Split hand...	OMIM:118300
Charcot-Marie-Tooth Disease Type 4A	Neuropathic spinal arthropathy, Distal muscle weakness, Limited interphalangeal movement, Hand mu...	ORPHA:99948
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Dyspnea, Respiratory insufficiency, Cardiomyopathy, Global systolic dysfunction, Limb muscle weak...	OMIM:606842
Neuropathy, Ataxia, And Retinitis Pigmentosa	Myopathy, Ataxia, Proximal muscle weakness	OMIM:551500
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Aplasia/Hypoplasia of fingers, Weight lo...	ORPHA:141152
Hypotonia, Infantile, With Psychomotor Retardation	Respiratory insufficiency due to muscle weakness, Myopathy, Increased variability in muscle fiber...	OMIM:616816
Creatine Phosphokinase, Elevated Serum	Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa...	OMIM:123320
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Waddling gait, Reduced muscle fiber alpha dystroglycan, Proximal muscle weakness, Dilated cardiom...	ORPHA:34515
Autosomal Dominant Spastic Paraplegia Type 17	Hand muscle atrophy, Hand muscle weakness, Ankle weakness, Abnormality of the foot musculature, S...	ORPHA:100998
Spinocerebellar Ataxia 18	Skeletal muscle atrophy, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia, Limb muscle weak...	OMIM:607458
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Skeletal muscle atrophy, Neonatal respiratory distress, Spinal muscular atrophy, Flexion contract...	OMIM:616867
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Distal muscle weakness, Tremor, Babinski sign, Flexion contracture, Limb muscle weakness, Distal ...	OMIM:609260
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Myopathy	OMIM:230450
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12	Facial palsy, Quadriceps muscle atrophy, Calf muscle hypertrophy, Shoulder girdle muscle weakness...	OMIM:611307
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Distal muscle weakness, Ataxia, Dysmetria, Gait ataxia, Distal amyotrophy, Hammertoe, Steppage ga...	OMIM:618387
Isolated Succinate-Coq Reductase Deficiency	Skeletal muscle atrophy, Knee flexion contracture, Loss of ambulation, Ataxia, External ophthalmo...	ORPHA:3208
Charcot-Marie-Tooth Disease Type 2B1	Hand muscle atrophy, Toe extensor amyotrophy, Pelvic girdle muscle atrophy, Distal muscle weaknes...	ORPHA:98856
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Proximal muscle weakness, Gowers sign, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Musc...	OMIM:613157
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle...	ORPHA:1143
Arts Syndrome	Death in infancy, Ataxia, Progressive muscle weakness, Tetraplegia, Growth delay	OMIM:301835
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Reduced vital capacity, Short neck, Kyphosis, Flexion contracture, Respiratory insufficiency, Axi...	ORPHA:178148
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Waddling gait, Abnormality of the epiphyses of the elbow, Short stature, Abnormality of radial ep...	ORPHA:166002
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E	Distal muscle weakness, Proximal muscle weakness, Inability to walk, Upper limb muscle weakness, ...	ORPHA:99939
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Thoracic scoliosis, Lumbar hyperlordosis, Proximal muscle weakness, Inability to walk, Quadriceps...	ORPHA:206546
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Skeletal muscle atrophy, Reduced systolic function, Dilated cardiomyopathy, Macroglossia, Calf mu...	OMIM:616827
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Skeletal muscle atrophy, Broad-based gait, Distal muscle weakness, Limb muscle weakness, Intrinsi...	OMIM:614895
Coenzyme Q10 Deficiency, Primary, 1	Hypergonadotropic hypogonadism, Ataxia, Progressive muscle weakness, Ragged-red muscle fibers, Lo...	OMIM:607426
Mitochondrial Myopathy, Lethal, Infantile	Myopathy	OMIM:551000
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Elbow flexion contracture, Joint contracture, Gait disturbance, Muscular dystrophy, Generalized a...	OMIM:616516
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Lower limb spasticity, Proximal muscle weakness in upper limbs, Kyphoscoliosis, Babinski sign, Up...	ORPHA:496689
Oculopharyngodistal Myopathy 4	Distal muscle weakness, Autophagic vacuoles, Fatty replacement of skeletal muscle, External ophth...	OMIM:619790
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Skeletal muscle atrophy, Progressive external ophthalmoplegia, Neck flexor weakness, Abnormal atr...	ORPHA:329336
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Loss of ability to walk in early childhood, Respiratory insufficiency due to muscle weakness, Ina...	OMIM:609560
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy	Ataxia, Spinal muscular atrophy, Spastic tetraplegia, Distal amyotrophy, Scoliosis, Spasticity, F...	OMIM:617207
Myasthenic Syndrome, Congenital, 1A, Slow-Channel	Hand muscle atrophy, Intermittent episodes of respiratory insufficiency due to muscle weakness, O...	OMIM:601462
Myoclonus-Cerebellar Ataxia-Deafness Syndrome	Progressive cerebellar ataxia, Progressive gait ataxia, Generalized amyotrophy	ORPHA:2589
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Skeletal muscle atrophy, Progressive external ophthalmoplegia, Distal muscle weakness, Facial pal...	OMIM:258450
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Respiratory insufficiency due to mu...	OMIM:608931
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Distal muscle weakness, Proximal muscle weakness, Upper limb muscle weakness, Distal amyotrophy, ...	OMIM:605588
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Short stature, Skeletal muscle hypertrophy, Macroglossia, Myopathy, Gait disturbance, Muscle weak...	ORPHA:2349
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Skeletal muscle atrophy, Poor head control, Kyphoscoliosis, Myopathy, Muscle weakness	ORPHA:300179
Spastic Paraplegia 17, Autosomal Dominant	Lower limb spasticity, Distal muscle weakness, Postural tremor, Thenar muscle atrophy, Thenar mus...	OMIM:270685
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress, Cachexia, External ophthalmoplegia, Weight loss, Gait ataxia, Failure to th...	OMIM:612075
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17	Skeletal muscle atrophy, Proximal muscle weakness, Gowers sign, Flexion contracture, Generalized ...	OMIM:613723
Neuropathy, Congenital, With Arthrogryposis Multiplex	Broad-based gait, Distal muscle weakness, Hyperlordosis, Proximal muscle weakness, Babinski sign,...	OMIM:162370
Christianson Syndrome	Death in early adulthood, Decreased muscle mass, Cachexia, Ophthalmoplegia, Gait ataxia, Truncal ...	ORPHA:85278
Lethal Congenital Contracture Syndrome 8	Death in infancy, Flexion contracture, Vocal cord paralysis, Facial diplegia, Distal amyotrophy, ...	OMIM:616287
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Distal muscle weakness, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait...	OMIM:607317
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis, Skeletal muscle atrophy, Cerebral palsy, Death in infancy, Death...	ORPHA:682
Combined Oxidative Phosphorylation Deficiency 28	Congestive heart failure, Respiratory failure, Ragged-red muscle fibers, Muscle weakness	OMIM:616794
Vocal Cord And Pharyngeal Distal Myopathy	Bulbar palsy, Distal muscle weakness, Abnormal morphology of musculature of pharynx, Respiratory ...	ORPHA:600
Kearns-Sayre Syndrome	Skeletal muscle atrophy, Progressive external ophthalmoplegia, Ataxia, Ragged-red muscle fibers, ...	ORPHA:480
Microcephaly, Seizures, And Developmental Delay	Skeletal muscle atrophy, Ataxia	OMIM:613402
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9	Hypoglycosylation of alpha-dystroglycan, Ankle flexion contracture, Gowers sign, Limb-girdle musc...	OMIM:613818
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Waddling gait, Hyperlordosis, Proximal muscle weakness, Chorea, Myopathy, Restrictive ventilatory...	ORPHA:369840
Myopathy, Myofibrillar, 7	Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul...	OMIM:617114
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Respiratory insufficiency due to muscle weakness, Ophthalmoplegia, Flexion contracture, Increased...	OMIM:607855
Isolated Glycerol Kinase Deficiency	Myopathy, Short stature, Scoliosis, Hyperlordosis	ORPHA:408
Marinesco-Sjögren Syndrome	Skeletal muscle atrophy, Severe short stature, Ataxia, Coxa valga, Rigidity, Abnormal metacarpal ...	ORPHA:559
Spastic Paraplegia 55, Autosomal Recessive	Lower limb spasticity, Tibialis anterior muscle atrophy, Babinski sign, Spastic paraplegia, Lower...	OMIM:615035
Parastremmatic Dwarfism	Bowing of the long bones, Severe short stature, Short neck, Kyphosis, Flexion contracture, Genu v...	OMIM:168400
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Tachycardia, Atrial fibrillation, Centrally nucleated skeletal muscle fibe...	OMIM:613327
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Inability to walk, Increased variability in muscle fiber diameter, Ataxia, Gait ataxia	OMIM:617915
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Progressive external ophthalmoplegia, Facial palsy, Progressive muscle weakness, Limb muscle weak...	OMIM:610131
Spinal Muscular Atrophy, Type Ii	Skeletal muscle atrophy, Spinal muscular atrophy, Muscle weakness	OMIM:253550
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	Distal muscle weakness, Paraparesis, Upper limb muscle weakness, Distal amyotrophy, Steppage gait...	OMIM:302802
Mitochondrial Myopathy And Sideroblastic Anemia	Kyphosis, Generalized limb muscle atrophy, Myopathy, Scoliosis, Delayed puberty	ORPHA:2598
Flynn-Aird Syndrome	Skeletal muscle atrophy, Ataxia, Cachexia, Kyphosis, Scoliosis	ORPHA:2047
Autosomal Recessive Spastic Paraplegia Type 74	Distal amyotrophy, Distal lower limb muscle weakness, Difficulty walking	ORPHA:468661
Ullrich Congenital Muscular Dystrophy 2	Facial palsy, Flexion contracture, Nocturnal hypoventilation, Increased variability in muscle fib...	OMIM:616470
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Waddling gait, Vertebral fusion, Hyperlordosis, Reduced forced vital capacity, Kyphosis, Achilles...	OMIM:607155
Immunoneurologic Disorder, X-Linked	Neonatal death, Progressive proximal muscle weakness, Spastic paraplegia, Small for gestational age	OMIM:300076
Striatonigral Degeneration, Infantile, Mitochondrial	Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Ragged-red muscle fibers,...	OMIM:500003
Hereditary Continuous Muscle Fiber Activity	Ataxia, Spastic gait, Congenital diaphragmatic hernia, Type 1 muscle fiber predominance	ORPHA:972
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress, Tremor, Rigidity, Bradykinesia, Falls, Parkinsonism with favorable response...	ORPHA:240085
Autosomal Dominant Spastic Paraplegia Type 3	Distal lower limb amyotrophy, Lower limb spasticity, Distal lower limb muscle weakness, Rigidity,...	ORPHA:100984
Dpm3-Cdg	Dilated cardiomyopathy, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weaknes...	ORPHA:263494
Spastic Paraplegia 45, Autosomal Recessive	Skeletal muscle atrophy, Flexion contracture, Spastic gait, Talipes equinovarus	OMIM:613162
Charcot-Marie-Tooth Disease, Axonal, Type 2Z	Incoordination, Ataxia, Distal muscle weakness, Proximal muscle weakness, Babinski sign, Abnormal...	OMIM:616688
Leber Hereditary Optic Neuropathy	Postural tremor, Myopathy, Ataxia	ORPHA:104
Spastic Paraplegia 2, X-Linked	Skeletal muscle atrophy, Flexion contracture, Dysmetria, Loss of ambulation, Lower limb muscle we...	OMIM:312920
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Flexion cont...	ORPHA:536516
Autosomal Recessive Spastic Paraplegia Type 67	Lower limb spasticity, Babinski sign, Limb tremor, Generalized amyotrophy, Difficulty walking, Sp...	ORPHA:401820
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Peroneal muscle weakness, Hand ...	ORPHA:101097
Nathalie Syndrome	Skeletal muscle atrophy, Abnormal EKG	OMIM:255990
Charcot-Marie-Tooth Disease, Axonal, Type 2J	Distal muscle weakness, Recurrent coughing spasms, Distal amyotrophy, Steppage gait, Foot dorsifl...	OMIM:607736
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Progressive external ophthalmoplegia, Spinal rigidity, Respirator...	ORPHA:352447
Gaucher Disease Type 2	Respiratory distress, Cardiac arrest, Ophthalmoplegia, Flexion contracture, Cough, Abnormal patte...	ORPHA:77260
Charcot-Marie-Tooth Disease Type 4D	Distal muscle weakness, Postural tremor, Kyphoscoliosis, Proximal muscle weakness, Inability to w...	ORPHA:99950
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries	Central core regions in muscle fibers, Muscular dystrophy, Muscle weakness	OMIM:159050
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Hip contracture, Facial hypotonia, Failure to thrive in infancy, Cachexia, Short neck, Tapered fi...	OMIM:616801
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Skeletal muscle atrophy, Cerebral hemorrhage, Abnormality of skeletal muscl...	OMIM:620278
Myasthenic Syndrome, Congenital, 1B, Fast-Channel	Bulbar palsy, Facial palsy, Respiratory insufficiency due to muscle weakness, Gowers sign, Genera...	OMIM:608930
Myopathy With Lactic Acidosis, Hereditary	Skeletal muscle atrophy, Distal muscle weakness, Dyspnea, Rhabdomyolysis, Ophthalmoparesis, Myopa...	OMIM:255125
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Distal lower limb amyotrophy, Paresis of extensor muscles of the big toe, Postural tremor, Hand m...	ORPHA:99947
Mcdonough Syndrome	Short stature, Cachexia, Kyphosis, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis	ORPHA:2471
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Neuropathic spinal arthropathy, Proximal muscle weakness in upper limbs, Distal muscle weakness, ...	OMIM:607706
Pure Mitochondrial Myopathy	Waddling gait, Progressive external ophthalmoplegia, Scapular winging, Lumbar hyperlordosis, Neck...	ORPHA:254854
Spastic Paraplegia 30, Autosomal Dominant	Lower limb spasticity, Ataxia, Spastic paraplegia, Babinski sign, Lower limb amyotrophy, Dysmetri...	OMIM:610357
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Unilateral cryptorchidism, Centrally nucleated skeletal muscle fibers, Bila...	OMIM:300219
Congenital Arthrogryposis With Anterior Horn Cell Disease	Skeletal muscle atrophy, Rocker bottom foot, Short neck, Respiratory insufficiency due to muscle ...	OMIM:611890
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Distal muscle weakness, Ataxia, Short stature, Kyphosis, Ophthalmoplegia, Unsteady gait, Split ha...	OMIM:618124
Spinocerebellar Ataxia 48	Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia	OMIM:618093
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Dyspnea, Achilles tendon contracture, Ragged-red muscle fibers, Obesity,...	OMIM:615418
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Progressive external ophthalmoplegia, Ataxia, Congestive heart failure, Dyspnea, Dilated cardiomy...	ORPHA:1349
Stuve-Wiedemann Syndrome 2	Respiratory distress, Bowing of the long bones, Death in adolescence, Pulmonary arterial hyperten...	OMIM:619751
Neutral Lipid Storage Myopathy	Progressive distal muscle weakness, Hand muscle weakness, Fatty replacement of skeletal muscle, C...	ORPHA:98908
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Ataxia, Ophthalmoplegia, Myopathy, Gait disturbance, Increased variability in muscle fiber diamet...	OMIM:125250
Charcot-Marie-Tooth Disease, Dominant Intermediate D	Upper limb muscle weakness, Distal amyotrophy, Distal muscle weakness	OMIM:607791
Spastic Ataxia 9, Autosomal Recessive	Distal muscle weakness, Ataxia, Hoffmann sign, Abnormal pyramidal sign, Babinski sign, Dysmetria,...	OMIM:618438
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Tremor, Kyphosis, Paraparesis, Skeletal muscle hypertrophy, Gait disturbance, Scoliosis, ...	ORPHA:99014
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Waddling gait, Distal muscle weakness, Proximal muscle weakness, Fatty replacement of skeletal mu...	ORPHA:52430
Brown-Vialetto-Van Laere Syndrome 2	Bulbar palsy, Ataxia, Facial palsy, Kyphoscoliosis, Split hand, Respiratory insufficiency, Clumsi...	OMIM:614707
Neuropathy, Congenital Hypomyelinating, 3	Limb joint contracture, Cachexia, Babinski sign, Flexion contracture, 2-3 toe syndactyly, Respira...	OMIM:618186
Alexander Disease Type I	Ataxia, Cachexia, Abnormal pyramidal sign, Spasticity, Scoliosis, Palatal tremor, Failure to thrive	ORPHA:363717
Perching Syndrome	Respiratory distress, Joint contracture, Camptodactyly	OMIM:617055
Combined Oxidative Phosphorylation Deficiency 31	Left ventricular noncompaction, Increased intramyocellular lipid droplets, Increased variability ...	OMIM:617228
Hereditary Motor And Sensory Neuropathy, Type Iic	Hand muscle atrophy, Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Short...	OMIM:606071
Idiopathic Bronchiectasis	Crackles, Productive cough, Cachexia, Dyspnea, Wheezing, Clubbing, Abnormal respiratory system ph...	ORPHA:60033
Charcot-Marie-Tooth Disease, Type 4B1	Distal muscle weakness, Facial palsy, Proximal muscle weakness, Distal amyotrophy, Talipes equino...	OMIM:601382
Charcot-Marie-Tooth Disease, Dominant Intermediate A	Skeletal muscle atrophy, Limb muscle weakness, Steppage gait	OMIM:620378
Heart-Hand Syndrome, Slovenian Type	Myopathy	OMIM:610140
Myoclonus, Intractable, Neonatal	Increased variability in muscle fiber diameter, Athetosis, Apnea	OMIM:617235
Congenital Muscular Dystrophy With Intellectual Disability	Neuropathic spinal arthropathy, Hypoglycosylation of alpha-dystroglycan, Multiple joint contractu...	ORPHA:370968
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Distal lower limb amyotrophy, Distal muscle weakness, Distal amyotrophy, Hammertoe, Steppage gait...	OMIM:600882
Charcot-Marie-Tooth Disease, Type 4B3	Skeletal muscle atrophy, Syndactyly, Ophthalmoplegia, Upper limb muscle weakness, Gait disturbanc...	OMIM:615284
Triose Phosphate-Isomerase Deficiency	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Diaphragmatic paralysis	ORPHA:868
Lipodystrophy, Familial Partial, Type 6	Skeletal muscle atrophy, Lumbar hyperlordosis, Proximal muscle weakness, Myopathy, Abdominal obes...	OMIM:615980
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Progressive distal muscle weakness, Proximal muscle weakness, Tremor, Fatty replacement of skelet...	ORPHA:397744
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Skeletal muscle atrophy, Cachexia, Short stature, Ataxia	ORPHA:1933
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Inability to walk, Ragged-red muscle fibers, Ataxia, Athetosis	OMIM:615159
Lethal Congenital Contracture Syndrome 7	Skeletal muscle atrophy, Paralysis, Knee flexion contracture, Facial diplegia, Distal arthrogryposis	OMIM:616286
Spinal Muscular Atrophy, Ryukyuan Type	Spinal muscular atrophy, Fasciculations, Kyphoscoliosis, Proximal amyotrophy	OMIM:271200
Amyotrophic Lateral Sclerosis 2, Juvenile	Hand muscle atrophy, Skeletal muscle atrophy, Clonus, Opisthotonus, Spastic dysarthria, Hypertoni...	OMIM:205100
Mitochondrial Dna Depletion Syndrome 11	Progressive external ophthalmoplegia, Hypergonadotropic hypogonadism, Facial palsy, Dyspnea, Ragg...	OMIM:615084
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Short stature, Ataxia, Kyphosis, Tongue fasciculations, Facial myokymia, Failure to thrive	OMIM:620007
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Gowers sign, Flexion contracture, Fatigable weakness of respiratory muscles...	ORPHA:365
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant	Neck muscle weakness, Muscular dystrophy, Proximal muscle weakness, Proximal amyotrophy	OMIM:612998
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ...	ORPHA:1344
Spinal Muscular Atrophy, Segmental	Hand muscle atrophy, Segmental spinal muscular atrophy	OMIM:183020
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Neonatal respiratory distress, Motheaten muscle fibers, Muscular dystrophy, Increased variability...	OMIM:226670
Presynaptic Congenital Myasthenic Syndromes	Limb-girdle muscle weakness, Muscle fiber atrophy, Frontalis muscle weakness, Waddling gait, Bulb...	ORPHA:98914
Congenital Myasthenic Syndrome	Limb-girdle muscle weakness, Muscle fiber atrophy, Frontalis muscle weakness, Waddling gait, Bulb...	ORPHA:590
Classic Glucose Transporter Type 1 Deficiency Syndrome	Central apnea, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Ex...	ORPHA:71277
Arthrogryposis Multiplex Congenita 6	Akinesia, Respiratory failure, Increased variability in muscle fiber diameter, Nemaline bodies, A...	OMIM:619334
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Poor head control, Facial palsy, Ankle flexion contracture, Type 1 muscle fiber atrophy, Choreoat...	OMIM:617519
Pelizaeus-Merzbacher Disease	Ataxia, Short stature, Cachexia, Failure to thrive in infancy, Kyphosis, Respiratory insufficienc...	ORPHA:702
Glut1 Deficiency Syndrome 1	Ataxia, Paralysis, Babinski sign, Spasticity, Choreoathetosis, Hemiparesis, Myoclonus, Lethargy, ...	OMIM:606777
Sandhoff Disease, Juvenile Form	Skeletal muscle atrophy, Distal muscle weakness, Limb joint contracture, Ataxia, Proximal muscle ...	ORPHA:309162
Rhizomelic Chondrodysplasia Punctata, Type 5	Skeletal muscle atrophy, Short humerus, Swan neck-like deformities of the fingers, Broad-based ga...	OMIM:616716
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Ataxia, Proximal muscle weakness, Ragged-red muscle fibers, Rhabdomyolysis, Choreoathetosis, Scol...	OMIM:618416
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Distal muscle weakness, Fatty replacement of skeletal muscle, Distal amyotrophy, Hammertoe, Stepp...	OMIM:618279
Proximal Spinal Muscular Atrophy	Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Flexion contrac...	ORPHA:70
Paroxysmal Non-Kinesigenic Dyskinesia	Torticollis, Involuntary movements, Rigidity, Dyspnea, Chorea, Generalized muscle weakness, Chore...	ORPHA:98810
Extensor Tendons Of Finger Anomalies	Skeletal muscle atrophy, Camptodactyly of finger	ORPHA:3294
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Dysmenorrhea, Limb-girdle muscle weakness, Progressive muscle weakness, ...	ORPHA:79240
Mitochondrial Complex I Deficiency, Nuclear Type 31	Skeletal muscle atrophy, Failure to thrive, Dysmetria	OMIM:618251
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Ankle flexion contracture, Reduced forced vital capacity, Respiratory insufficiency due to muscle...	OMIM:619461
Congenital Myopathy 19	Skeletal muscle atrophy, Facial hypotonia, Respiratory insufficiency due to muscle weakness, Cryp...	OMIM:618578
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Fatiguable weakness of proximal limb muscles,...	ORPHA:90117
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Small for gestational age, Flexion contracture, Hypertension, Left ventricu...	OMIM:616733
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Distal muscle weakness, Small for gestational age, Spinal muscular atrophy, Camptodactyly of fing...	OMIM:604320
Roussy-Levy Hereditary Areflexic Dystasia	Distal muscle weakness, Upper limb postural tremor, Kyphoscoliosis, Gait ataxia, Distal amyotroph...	OMIM:180800
Hypokalemic Periodic Paralysis, Type 2	Episodic flaccid weakness, Myopathy, Periodic paralysis	OMIM:613345
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Waddling gait, Lower limb spasticity, Broad-based gait, Lumbar hyperlordosis, Short stature, Atax...	OMIM:616756
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Skeletal muscle atrophy, Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity	OMIM:183050
Episodic Ataxia Type 1	Respiratory distress, Kyphoscoliosis, Poor coordination, Clumsiness, Choreoathetosis, Calf muscle...	ORPHA:37612
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hip contracture, Short stature, Arachnodactyly, Cachexia, Short neck, Elbow flexion contracture, ...	ORPHA:371364
Epilepsy, Progressive Myoclonic, 9	Short thumb, Gait ataxia, Myoclonus, Scoliosis, Generalized amyotrophy, Action myoclonus, Frequen...	OMIM:616540
Hypophosphatasia, Childhood	Waddling gait, Myopathy, Short stature, Bowing of the legs	OMIM:241510
Myasthenic Syndrome, Congenital, 20, Presynaptic	Skeletal muscle atrophy, Hypoventilation, Bulbar palsy, Apnea, Facial palsy, Proximal muscle weak...	OMIM:617143
Myasthenic Syndrome, Congenital, 16	Apnea, Periodic paralysis, External ophthalmoplegia, Hyperlordosis, Fatigable weakness, Gait dist...	OMIM:614198
Oliver-Mcfarlane Syndrome	Distal muscle weakness, Small for gestational age, Hypogonadotropic hypogonadism, Cryptorchidism,...	OMIM:275400
Hypokalemic Periodic Paralysis	Abnormal muscle fiber morphology, Paralysis, Episodic flaccid weakness, Respiratory paralysis, In...	ORPHA:681
Muscular Dystrophy, Congenital, Megaconial Type	Waddling gait, Facial palsy, Gowers sign, Myopathy, Muscular dystrophy, Increased endomysial conn...	OMIM:602541
Gm1-Gangliosidosis, Type Iii	Skeletal muscle atrophy, Short stature, Ataxia, Kyphosis, Slurred speech, Platyspondyly, Scoliosi...	OMIM:230650
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal s...	ORPHA:240103
Familial Isolated Dilated Cardiomyopathy	Myopathy	ORPHA:154
Spinocerebellar Ataxia With Epilepsy	Tremor, Dysmetria, Gait ataxia, Ophthalmoparesis, Progressive cerebellar ataxia, Dysdiadochokines...	ORPHA:254881
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Dysmenorrhea, Increased sarcoplasmic glycogen, Progressive muscle weakne...	ORPHA:264580
Spastic Paraplegia 46, Autosomal Recessive	Lower limb spasticity, Lower limb muscle weakness, Kyphosis, Babinski sign, Spastic paraplegia, H...	OMIM:614409
Autosomal Recessive Spastic Paraplegia Type 26	Lower limb spasticity, Skeletal muscle atrophy, Babinski sign, Pseudobulbar paralysis, Gait distu...	ORPHA:101006
Spastic Paraplegia 5A, Autosomal Recessive	Lower limb spasticity, Postural tremor, Lower limb muscle weakness, Babinski sign, Spastic parapl...	OMIM:270800
Charcot-Marie-Tooth Disease Type 4G	Proximal muscle weakness, Upper limb amyotrophy, Distal amyotrophy, Distal upper limb muscle weak...	ORPHA:99953
Pulmonary Blastoma	Weight loss, Dyspnea, Recurrent pneumonia, Cough	ORPHA:64741
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Spinal rigidity, Limb-girdle muscl...	OMIM:609308
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita	Small for gestational age, Postnatal growth retardation, Inability to walk, Gowers sign, Fatiguab...	ORPHA:319332
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Short stature, Facial palsy, Proximal muscle weakness, Achilles tendon contracture, Babinski sign...	OMIM:608840
Mitochondrial Complex I Deficiency, Nuclear Type 17	Skeletal muscle atrophy, Ataxia, Rigidity, Gait disturbance, Scoliosis, Muscle weakness	OMIM:618239
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Distal muscle weakness, Hammertoe, Steppage gait, Distal amyotrophy, Tip-toe gait, Foot dorsiflex...	OMIM:614436
Polymyositis	Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar...	ORPHA:732
Pontocerebellar Hypoplasia Type 1	Skeletal muscle atrophy, Ataxia, Congenital laryngeal stridor, Respiratory failure, Arthrogryposi...	ORPHA:2254
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Distal amyotrophy, Distal muscle weakness, Gait disturbance	OMIM:311070
Dk1-Cdg	Congestive heart failure, Progressive muscle weakness, Dilated cardiomyopathy, Arrhythmia, Failur...	ORPHA:91131
Mitochondrial Complex I Deficiency, Nuclear Type 6	Skeletal muscle atrophy, Apnea, Ataxia, Respiratory insufficiency, Left ventricular hypertrophy, ...	OMIM:618228
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Neonatal respiratory distress, Spinal muscular atrophy, Congestive heart failure, Flexion contrac...	OMIM:616866
Muscular Dystrophy, Barnes Type	Myopathy, Muscular dystrophy	OMIM:158800
Allan-Herndon-Dudley Syndrome	Skeletal muscle atrophy, Poor head control, Ataxia, Short stature, Kyphoscoliosis, Small for gest...	ORPHA:59
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Scapular winging, Myositis, Facial palsy, Flexion contracture, Proximal amyotrophy, Muscular dyst...	OMIM:253600
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive	Skeletal muscle atrophy, Foot dorsiflexor weakness	OMIM:137200
Fried Syndrome	Skeletal muscle atrophy, Gait disturbance, Spastic diplegia, Scoliosis	ORPHA:85335
Sialidosis Type 2	Skeletal muscle atrophy, Short stature, Ataxia, Tremor, Kyphosis, Dyspnea, Flexion contracture, M...	ORPHA:87876
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Poor head control, Stridor, Increased variability in muscle fiber diameter,...	OMIM:615595
Congenital Diaphragmatic Hernia	Respiratory distress, Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia, Hypox...	ORPHA:2140
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Respiratory failure requiring assisted ventilation, Failure to thrive in infancy, External ophtha...	OMIM:619026
Tbck-Related Intellectual Disability Syndrome	Skeletal muscle atrophy, Broad toe, Diastasis recti, Cryptorchidism, Asthma, Progressive muscle w...	ORPHA:488632
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Distal muscle weakness, Split hand, Distal amyotrophy, Hammertoe, Steppage gait, Ulnar claw, Limb...	OMIM:118220
Charcot-Marie-Tooth Disease, Type 4B2	Distal muscle weakness, Split hand, Distal amyotrophy, Hammertoe, Steppage gait, Talipes equinova...	OMIM:604563
Hypokalemic Periodic Paralysis, Type 1	Episodic flaccid weakness, Myopathy, Muscle weakness, Periodic paralysis	OMIM:170400
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Scapular winging, Myositis, Raynaud phenomenon, Congestive heart failure...	ORPHA:206569
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Central apnea, Resting tremor, Skeletal muscle atrophy, Incoordination, Ataxia, Tremor, Parapares...	OMIM:615157
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Waddling gait, Gowers sign, Proximal amyotrophy, Upper limb muscle weakness, Calf muscle hypertro...	ORPHA:209335
Mitochondrial Complex I Deficiency, Nuclear Type 23	Growth delay, Skeletal muscle atrophy, Scoliosis	OMIM:618244
Kennedy Disease	Skeletal muscle atrophy, Decreased fertility, Gait disturbance, Erectile dysfunction, Testicular ...	ORPHA:481
Carnitine Deficiency, Systemic Primary	Respiratory distress, Proximal muscle weakness, Congestive heart failure, Myopathy, Mitral regurg...	OMIM:212140
Myasthenic Syndrome, Congenital, 19	Bulbar palsy, Poor head control, Distal muscle weakness, Facial palsy, Proximal muscle weakness, ...	OMIM:616720
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies	Skeletal muscle atrophy, Distal muscle weakness	OMIM:205250
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Facial hypotonia, Proxi...	ORPHA:308552
Leber Optic Atrophy And Dystonia	Skeletal muscle atrophy, Bradykinesia, Athetosis, Scoliosis, Spasticity, Upper motor neuron dysfu...	OMIM:500001
Immunodeficiency 9	Death in infancy, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Gow...	OMIM:612782
Pseudoachondroplasia	Metaphyseal widening, Abnormal form of the vertebral bodies, Short phalanx of finger, Genu varum,...	ORPHA:750
Myotonia Permanens	Short stature, Hyperlordosis, Dyspnea, Asthma, Generalized muscle hypertrophy, Ophthalmoplegia, O...	ORPHA:99735
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased muscle mass, Distal muscle weakness, Cachexia, External ophthalmoplegia, Ragged-red mus...	ORPHA:298
Bardet-Biedl Syndrome 16	Hypogonadism, Polydactyly, Obesity, Respiratory distress	OMIM:615993
X-Linked Immunoneurologic Disorder	Myopathy	ORPHA:2571
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp...	ORPHA:251282
Mitochondrial Complex I Deficiency, Nuclear Type 11	Kyphosis, Failure to thrive, Myopathy, Scoliosis	OMIM:618234
Fetal Akinesia Deformation Sequence 4	Skeletal muscle atrophy, Rocker bottom foot, Short neck, Kyphosis, Prenatal death, Camptodactyly,...	OMIM:618393
Myopathy Due To Myoadenylate Deaminase Deficiency	Skeletal muscle atrophy, Rhabdomyolysis, Myopathy	OMIM:615511
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Large for gestational a...	ORPHA:45452
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Distal amyotrophy	ORPHA:639
Mulibrey Nanism	Intrauterine growth retardation, Short stature, Cachexia	ORPHA:2576
Spastic Paraplegia With Neuropathy And Poikiloderma	Distal amyotrophy	OMIM:182815
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Myopathy	ORPHA:1369
Adducted Thumbs Syndrome	Myopathy, Arthrogryposis multiplex congenita	OMIM:201550
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Short stature, Ataxia, Ophthalmoplegia, Babinski sign, Flexion contracture, Ragged-red muscle fib...	OMIM:252011
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Skeletal muscle atrophy, Autoamputation of digits, Distal muscle weakness, ...	OMIM:256810
Multicentric Reticulohistiocytosis	Muscle weakness, Cachexia	ORPHA:139436
Isaacs Syndrome	Calf muscle hypertrophy, Fasciculations, Muscle weakness, Weight loss	ORPHA:84142
Camurati-Engelmann Disease, Type 2	Waddling gait, Hip contracture, Skeletal muscle atrophy, Knee flexion contracture, Mitral regurgi...	OMIM:606631
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Overlapping toe, Short stature, Kyphosis, Short thumb, Camptodactyly, Clinodactyly of the 5th finger	OMIM:618453
Autosomal Dominant Spastic Paraplegia Type 6	Lower limb spasticity, Skeletal muscle atrophy, Postural tremor, Babinski sign, Spastic paraplegi...	ORPHA:100988
Glycogen Storage Disease Iii	Myopathy, Distal amyotrophy, Short stature, Muscle weakness	OMIM:232400
Cdkl5-Deficiency Disorder	Hallux valgus, Poor head control, Broad proximal phalanges of the hand, Kyphosis, Abnormal respir...	ORPHA:505652
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Muscle weakness, Abnormal muscle fiber protein expression	ORPHA:330054
Congenital Muscular Dystrophy, Fukuyama Type	Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Flexion contracture, Myopathy, ...	ORPHA:272
Atypical Rett Syndrome	Total ophthalmoplegia, Sudden episodic apnea, Involuntary movements, Episodic tachypnea, Tremor, ...	ORPHA:3095
Lethal Recessive Chondrodysplasia	Respiratory distress, Micromelia, Macroglossia, Flared elbow metaphyses, Limb undergrowth	ORPHA:1423
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Arachnodactyly, Short stature, Cachexia	ORPHA:1144
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Ataxia, Weakness of facial musculature, External ophthalmoplegia, Flexion contracture, Abnormal p...	OMIM:201470
Spastic Paraplegia 20, Autosomal Recessive	Flexion contracture, Dysmetria, Lower limb muscle weakness, Short stature, Distal amyotrophy, Upp...	OMIM:275900
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Muscle weakness	OMIM:612069
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome	Skeletal muscle atrophy, Bronchiectasis, Decreased body weight	ORPHA:477814
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Skeletal muscle atrophy, Tremor, Inability to walk, Difficulty walking, Scoliosis, Delayed menarche	ORPHA:330050
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Distal amyotrophy, Distal muscle weakness, Ataxia, Gait ataxia	OMIM:601098
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Skeletal muscle atrophy, Poor head control, Bradycardia, Pulmonary arterial...	OMIM:619272
Amyotrophic Lateral Sclerosis 20	Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles	OMIM:615426
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Distal muscle weakness, Split hand, Distal amyotrophy, Hammertoe, Steppage gait, Ulnar claw, Limb...	OMIM:118200
Infantile Krabbe Disease	Respiratory distress, Lower limb spasticity, Poor head control, Cachexia, Spastic diplegia, Opist...	ORPHA:206436
Primary Dystonia, Dyt4 Type	Respiratory distress, Eunuchoid habitus, Torticollis, Involuntary movements, Kyphoscoliosis, Uppe...	ORPHA:98805
Malignant Hyperthermia, Susceptibility To, 2	Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind...	OMIM:154275
Glycogen Storage Disease X	Myopathy, Rhabdomyolysis	OMIM:261670
Renpenning Syndrome	Skeletal muscle atrophy, Severe short stature, Cachexia, Abnormal thumb morphology, Growth delay,...	ORPHA:3242
Masa Syndrome	Lower limb spasticity, Short stature, Hyperlordosis, Kyphosis, Spastic paraplegia, Paraplegia, Sh...	OMIM:303350
Danon Disease	Myocardial necrosis, Wolff-Parkinson-White syndrome, Distal muscle weakness, Proximal muscle weak...	OMIM:300257
Lethal Congenital Contracture Syndrome 9	Elbow extension contracture, Ulnar deviation of the hand, Centrally nucleated skeletal muscle fib...	OMIM:616503
Muscular Hypertonia, Lethal	Respiratory distress, Death in infancy, Hypertonia, Pneumonia	OMIM:254120
Autosomal Dominant Spastic Paraplegia Type 19	Lower limb muscle weakness, Limb ataxia, Male sexual dysfunction, Difficulty walking, Female sexu...	ORPHA:100999
Pontocerebellar Hypoplasia, Type 1A	Ataxia, Spinal muscular atrophy, Respiratory insufficiency, Limb ataxia, Congenital contracture, ...	OMIM:607596
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Stridor, Abnormal skeletal ...	ORPHA:142
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Apnea, Micromelia, Short neck, Coxa vara, Hypertonia, Wrist flexion cont...	ORPHA:800
Myopathy, Mitochondrial, And Ataxia	Ataxia, Inability to walk, Primary amenorrhea, Dysmetria, Limb ataxia, Distal amyotrophy, Dysdiad...	OMIM:617675
Spastic Paraplegia Type 7	Babinski sign, Abnormal pyramidal sign, Ragged-red muscle fibers, Upper limb muscle weakness, Low...	ORPHA:99013
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Abnormal EKG, Cardiomyopathy, Lower limb hypertonia, Progressive gait ataxia, Progressive cerebel...	ORPHA:1177
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Broad-based gait, Decreased muscle mass, Inability to walk, Vocal cord paralysis, Intrinsic hand ...	OMIM:615490
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Left ventricular noncompaction cardiomyopathy, Facial palsy, Cardiogenic shock, Dilated cardiomyo...	OMIM:619424
Spinocerebellar Ataxia Type 3	Skeletal muscle atrophy, Progressive external ophthalmoplegia, Vocal cord paralysis, Abnormal pyr...	ORPHA:98757
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers	OMIM:540000
Myopathy, Myofibrillar, 1	Bulbar palsy, Distal muscle weakness, Facial palsy, Respiratory insufficiency due to muscle weakn...	OMIM:601419
Oxoglutarate Dehydrogenase Deficiency	Unsteady gait, Dysmetria, Gait ataxia, Falls, Generalized amyotrophy	OMIM:203740
Spastic Paraplegia 11, Autosomal Recessive	Lower limb spasticity, Skeletal muscle atrophy, Ataxia, Thenar muscle atrophy, Babinski sign, Spa...	OMIM:604360
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Waddling gait, Short stature, Small for gestational age, Kyphosis, Delayed ossification of carpal...	OMIM:618392
Amyotrophic Lateral Sclerosis, Susceptibility To, 24	Skeletal muscle atrophy, Respiratory insufficiency	OMIM:617892
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress, Ataxia, Ankle flexion contracture, Small hand, Upper limb undergrowth, Knee...	OMIM:608799
Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Paralysis, Fatigable weakness of bulbar muscles, Dyspnea, Generalized mu...	ORPHA:803
Spinocerebellar Ataxia 28	Parkinsonism, Babinski sign, Ragged-red muscle fibers, Limb ataxia, Gait ataxia, Ophthalmoparesis...	OMIM:610246
Hypertrophic Neuropathy Of Dejerine-Sottas	Broad-based gait, Distal muscle weakness, Kyphoscoliosis, Proximal muscle weakness, Split hand, D...	OMIM:145900
Malignant Hyperthermia, Susceptibility To, 3	Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind...	OMIM:154276
Acute Peripheral Arterial Occlusion	Limb muscle weakness, Paralysis	ORPHA:90064
Severe Neurodegenerative Syndrome With Lipodystrophy	Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Myopathy, Respirat...	ORPHA:363400
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Short stature, Ataxia, Acute rhabdomyolysis, Camptodactyly of finger, Kyphosis, Abnormal pyramida...	ORPHA:48431
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Disproportionate short...	ORPHA:40
Oculogastrointestinal Muscular Dystrophy	External ophthalmoplegia, Skeletal muscle atrophy, Myopathy, Cachexia	ORPHA:1876
Combined Oxidative Phosphorylation Deficiency 30	Left ventricular hypertrophy, Failure to thrive, Respiratory distress	OMIM:616974
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Spinocerebellar Ataxia, Autosomal Recessive 21	Skeletal muscle atrophy, Distal muscle weakness, Limb ataxia, Gait ataxia, Talipes equinovarus	OMIM:616719
Pleural Mesothelioma	Respiratory distress, Dyspnea, Abnormal cardiovascular system physiology, Abnormal respiratory sy...	ORPHA:50251
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Hypergonadotropic hypogonadism, Ataxia, Ophthalmoplegia, Athetosis, Distal amyotrophy, Loss of am...	OMIM:271245
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Short stature, Thoracolumbar scoliosis, Short neck, Flexion contracture, Myopathy, Cervical C2/C3...	OMIM:616549
Glycogen Storage Disease Due To Aldolase A Deficiency	Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S...	ORPHA:57
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Distal muscle weakness, Proximal muscle weakness, Split hand, Distal amyotrophy, Talipes equinovarus	OMIM:607831
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Skeletal muscle atrophy, Portal hypertension, Congestive heart failure, Fle...	ORPHA:367
Amyotrophic Lateral Sclerosis 9	Distal amyotrophy, Distal muscle weakness	OMIM:611895
Peroxisome Biogenesis Disorder 11B	Progressive muscle weakness, Muscle weakness	OMIM:614885
Congenital Myopathy 21 With Early Respiratory Failure	Spinal rigidity, Dyspnea, Diaphragmatic weakness, Respiratory failure, Nocturnal hypoventilation,...	OMIM:620326
Myotonia, Potassium-Aggravated	Skeletal muscle atrophy, Skeletal muscle hypertrophy, Stridor, Apneic episodes in infancy, Muscle...	OMIM:608390
Autosomal Dominant Spastic Paraplegia Type 41	Spastic gait, Lower limb amyotrophy, Proximal muscle weakness, Hand muscle weakness	ORPHA:320355
Ataxia-Oculomotor Apraxia Type 4	Progressive distal muscular atrophy, Ataxia, Kyphoscoliosis, Abnormal toe morphology, Obesity, Mu...	ORPHA:459033
Ataxia With Vitamin E Deficiency	Skeletal muscle atrophy, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetr...	ORPHA:96
Sengers Syndrome	Generalized muscle weakness, Respiratory insufficiency, Growth delay, Myopathy, Pulmonary arteria...	OMIM:212350
X-Linked Intellectual Disability, Cabezas Type	Broad-based gait, Toe syndactyly, Short stature, Camptodactyly of finger, Cachexia, Short neck, T...	ORPHA:85293
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Waddling gait, Lower limb spasticity, Abnormality of the musculature of the lower limbs, Short st...	ORPHA:464282
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Steppage gait, Distal amyotrophy, Distal lower limb muscle weakness, Ataxia	ORPHA:94124
Mitochondrial Complex I Deficiency, Nuclear Type 14	Myopathy, Apnea	OMIM:618236
Phosphoglycerate Kinase 1 Deficiency	Myopathy, Rhabdomyolysis, Ataxia, Muscle weakness	OMIM:300653
Charcot-Marie-Tooth Disease Type 1B	Skeletal muscle hypertrophy, Skeletal muscle atrophy, Muscle weakness	ORPHA:101082
Amyotrophic Lateral Sclerosis 18	Skeletal muscle atrophy, Muscle weakness	OMIM:614808
Sandhoff Disease	Kyphosis, Failure to thrive, Ataxia, Muscle weakness	ORPHA:796
Charcot-Marie-Tooth Disease Type 1F	Hand muscle atrophy, Skeletal muscle atrophy, Hand muscle weakness, Hand tremor, Gait ataxia, Ste...	ORPHA:101085
Native American Myopathy	Skeletal muscle atrophy, Cryptorchidism, Abnormality of skeletal muscle fiber size, Inability to ...	ORPHA:168572
Moebius Syndrome	Respiratory distress, Syndactyly, Brachydactyly, Hypogonadotropic hypogonadism, Clinodactyly, Spl...	OMIM:157900
Ataxia-Deafness-Intellectual Disability Syndrome	Skeletal muscle atrophy, Ataxia, Scoliosis	ORPHA:1188
Autosomal Dominant Spastic Paraplegia Type 42	Lower limb spasticity, Clonus, Babinski sign, Lower limb amyotrophy, Lower limb hypertonia, Lower...	ORPHA:171863
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl...	OMIM:611302
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Gait disturbance, Proximal amyotrophy	OMIM:608030
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Camurati-Engelmann Disease	Skeletal muscle atrophy, Abnormal tibia morphology, Abnormal femur morphology, Cortical thickenin...	ORPHA:1328
Combined Oxidative Phosphorylation Deficiency 13	Choreoathetosis, Skeletal muscle atrophy, Poor head control	OMIM:614932
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Death in infancy, Increased variability in muscle fiber diameter, Myopathy,...	OMIM:604377
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress, Decreased muscle mass, Arachnodactyly, Rocker bottom foot, Acute infantile ...	OMIM:271225
Pelizaeus-Merzbacher Disease, Connatal Form	Poor head control, Ataxia, Abnormal morphology of musculature of pharynx, Inability to walk, Dyst...	ORPHA:280210
X-Linked Intellectual Disability, Miles-Carpenter Type	Skeletal muscle atrophy, Hypogonadism, Rocker bottom foot	ORPHA:85283
Glutamate-Cysteine Ligase Deficiency	Myopathy, Ataxia	ORPHA:33574
Autosomal Recessive Spastic Paraplegia Type 15	Lower limb spasticity, Babinski sign, Spastic paraplegia, Hand tremor, Upper limb muscle weakness...	ORPHA:100996
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia	Skeletal muscle atrophy, Muscle weakness	OMIM:254950
Congenital Myopathy 9A	Death in infancy, Short stature, Akinesia, Obesity, Tongue fasciculations, EMG: myopathic abnorma...	OMIM:618822
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Poor head control, Ataxia, Tachypnea, Respiratory insuffi...	OMIM:614299
Spastic Paraplegia 9B, Autosomal Recessive	Skeletal muscle atrophy, Short stature, Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, G...	OMIM:616586
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Spastic Paraplegia 16, X-Linked	Lower limb spasticity, Facial hypotonia, Babinski sign, Spastic paraplegia, Lower limb amyotrophy...	OMIM:300266
Pontocerebellar Hypoplasia, Type 1B	Skeletal muscle atrophy, Poor head control, Flexion contracture, Respiratory insufficiency, Growt...	OMIM:614678
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Skeletal muscle atrophy, Bulbar palsy, Muscle weakness	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Skeletal muscle atrophy, Bulbar palsy, Muscle weakness	OMIM:616437
Moynahan Syndrome	Short stature, Cachexia	ORPHA:2574
Charcot-Marie-Tooth Disease, Type 4K	Skeletal muscle atrophy, Difficulty walking, Ataxia, Kyphoscoliosis	OMIM:616684
Pontocerebellar Hypoplasia, Type 11	Skeletal muscle atrophy, Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Talipes equino...	OMIM:617695
Macular Degeneration, Age-Related, 3	Distal amyotrophy, Distal muscle weakness	OMIM:608895
Porphyria, Acute Hepatic	Failure to thrive, Respiratory paralysis, Paralysis	OMIM:612740
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Skeletal muscle atrophy, Growth delay, Restrictive ventilatory defect, Scoliosis, Delayed puberty...	OMIM:615704
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Poor head control, Unsteady gait, Knee flexion contracture, Calf muscle hyp...	OMIM:618733
Becker Muscular Dystrophy	Skeletal muscle atrophy, Tip-toe gait, Falls, Difficulty walking, Muscle weakness	ORPHA:98895
Neutral Lipid Storage Disease With Ichthyosis	Short stature, Ataxia, Progressive proximal muscle weakness, Obesity, Myopathy, Shoulder girdle m...	ORPHA:98907
Diencephalic Syndrome	Large hands, Cachexia, Decreased body weight	ORPHA:1672
Pontocerebellar Hypoplasia, Type 1D	Poor head control, Multiple joint contractures, Short neck, Flexion contracture, Generalized musc...	OMIM:618065
Neurodegeneration With Brain Iron Accumulation 6	Rigidity, Spastic tetraplegia, Bradykinesia, Distal amyotrophy, Tip-toe gait, Gait disturbance, S...	OMIM:615643
Autosomal Recessive Spastic Paraplegia Type 66	Talipes equinovarus, Difficulty walking, Lower limb amyotrophy, Spastic gait, Limb hypertonia	ORPHA:401815
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress, Clinodactyly, Failure to thrive	OMIM:300934
Autosomal Dominant Progressive External Ophthalmoplegia	Tremor, Quadriceps muscle weakness, Ragged-red muscle fibers, Gait ataxia, Hypertonia, Lethargy, ...	ORPHA:254892
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Increased muscle glycogen content, Skeletal muscle atrophy, Muscle weakness	ORPHA:371
Hereditary Sensory And Autonomic Neuropathy Type 1	Distal muscle weakness, Foot dorsiflexor weakness, Inability to walk, Distal amyotrophy, Steppage...	ORPHA:36386
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Short neck, Dyspnea, Respiratory failure, Intrauterine growth retardation	ORPHA:1832
Myofibrillar Myopathy 10	Sandal gap, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contract...	OMIM:619040
Pparg-Related Familial Partial Lipodystrophy	Calf muscle pseudohypertrophy, Dysmenorrhea, Congestive heart failure, Abnormality of skeletal mu...	ORPHA:79083
Severe Congenital Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Flexion contracture, Axial muscle weaknes...	ORPHA:171430
Acquired Partial Lipodystrophy	Myopathy	ORPHA:79087
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Anisospondyly, Caudal a...	OMIM:156530
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Hyperextensibility of the finger joints, Severe short stature, Thoracolumbar sco...	OMIM:313420
Intellectual Disability-Developmental Delay-Contractures Syndrome	Kyphosis, Congenital foot contractures, Distal amyotrophy, Clinodactyly of the 5th finger, Scolio...	ORPHA:3454
Huntington Disease-Like 2	Involuntary movements, Parkinsonism, Chorea, Weight loss, Gait disturbance	ORPHA:98934
Glycogen Storage Disease Xv	Scapular winging, ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachyca...	OMIM:613507
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Apnea	OMIM:616896
Combined Oxidative Phosphorylation Deficiency 7	Skeletal muscle atrophy, Ataxia, External ophthalmoplegia, Ophthalmoplegia, Facial diplegia, Faci...	OMIM:613559
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Kyphosis, Congenital muscular dystrophy, Gait disturbance	ORPHA:1875
Hereditary Neuropathy With Liability To Pressure Palsies	Respiratory insufficiency, Vocal cord paralysis, Scoliosis	ORPHA:640
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction...	ORPHA:60032
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Prolonged QT interval, Hypoglycosylation of alpha-dystroglycan, Poor head control, Generalized li...	OMIM:615351
Myotonic Dystrophy 1	Respiratory distress, Atrial flutter, Atrial fibrillation, First degree atrioventricular block, F...	OMIM:160900
Arthrogryposis, Distal, Type 5	Decreased muscle mass, Short stature, Arachnodactyly, Reduced forced expiratory volume in one sec...	OMIM:108145
Brachyolmia Type 1, Hobaek Type	Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short ...	OMIM:271530
Allan-Herndon-Dudley Syndrome	Hallux valgus, Ataxia, Clonus, Inability to walk, Babinski sign, Spastic paraplegia, Spastic tetr...	OMIM:300523
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Proximal muscle weakness, Gowers sign, Increased variability in muscle fiber diameter, Primary am...	ORPHA:502423
Amyotrophic Lateral Sclerosis 5, Juvenile	Respiratory insufficiency due to muscle weakness, Distal amyotrophy, Distal muscle weakness	OMIM:602099
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Foot dorsiflexor weakness, Ataxia, Unsteady gait, Dysmetria, Gait ataxia, Progressive cerebellar ...	ORPHA:98
Spinocerebellar Ataxia Type 1	Skeletal muscle atrophy, Postural tremor, Chorea, Slurred speech, Dysmetria, Abnormality of masti...	ORPHA:98755
Wieacker-Wolff Syndrome	Neonatal respiratory distress, Short stature, Facial palsy, Apnea, Hyperlordosis, Short neck, Kyp...	OMIM:314580
Cardiomyopathy, Familial Hypertrophic, 16	Orthopnea, Atrial fibrillation, Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bund...	OMIM:613838
Autosomal Dominant Optic Atrophy, Classic Form	Skeletal muscle atrophy, Scapular winging, Ataxia, Ophthalmoplegia, Spastic paraplegia, Hemipares...	ORPHA:98673
Mitochondrial Trifunctional Protein Deficiency 1	Small for gestational age, Rhabdomyolysis, Generalized muscle weakness, Respiratory insufficiency...	OMIM:609015
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response, Inability to walk, Kyphosis, Babinski sign, Spastic paraplegia, Fle...	OMIM:609541
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Distal lower limb amyotrophy, Thenar muscle atrophy, Distal upper limb muscle weakness, Difficult...	OMIM:500013
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Ataxia, Tapered finger, Tremor, Babinski sign, Flexion contracture, Dysmetria, Gait ataxia, Dista...	OMIM:616505
Combined Oxidative Phosphorylation Defect Type 7	Skeletal muscle atrophy, Bulbar palsy, Ataxia, Inability to walk, Ophthalmoplegia, Impaired tande...	ORPHA:254930
X-Linked Intellectual Disability, Stocco Dos Santos Type	Small for gestational age, Kyphosis, Short stature, Talipes equinovarus	ORPHA:85288
Mitochondrial Trifunctional Protein Deficiency	Failure to thrive in infancy, Progressive distal muscle weakness, Equinus calcaneus, Babinski sig...	ORPHA:746
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome	Skeletal muscle atrophy, Short stature, Myopathy, Gait disturbance	ORPHA:85329
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Type 2 muscle fiber predo...	OMIM:619028
Silver-Russell Syndrome	Decreased muscle mass, Short stature, Failure to thrive in infancy, Cachexia, Sandal gap, Postnat...	ORPHA:813
Autosomal Dominant Optic Atrophy Plus Syndrome	Progressive external ophthalmoplegia, Ataxia, Limb-girdle muscle weakness, Spastic paraplegia, My...	ORPHA:1215
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Apnea, Short neck, Tremor, Flexion contracture, Choreoathetosis, Wrist flexion contracture, Ataxi...	OMIM:300055
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Poor head control, Apnea, Tapered finger, Type 1 muscle fiber predominance, Increased variability...	OMIM:612949
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Myopathy, Respiratory failure, Stillbirth, Tongue fasciculations, Myoclonus, De...	OMIM:614922
Combined Oxidative Phosphorylation Defect Type 13	Hip contracture, Poor head control, Ankle flexion contracture, Choreoathetosis, Lower limb hypert...	ORPHA:319514
Autosomal Recessive Spastic Paraplegia Type 5A	Lower limb spasticity, Babinski sign, Spastic paraplegia, Lower limb amyotrophy, Limb ataxia, Upp...	ORPHA:100986
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Postaxial hand polydactyly, Hypertonia, Short stature, Cachexia	ORPHA:1389
Developmental And Epileptic Encephalopathy 86	Small for gestational age, Generalized amyotrophy	OMIM:618910
Postpoliomyelitis Syndrome	Skeletal muscle atrophy, Muscle weakness, Respiratory insufficiency, Hypoventilation	ORPHA:2942
Combined Oxidative Phosphorylation Deficiency 24	Skeletal muscle atrophy, Proximal muscle weakness, Ragged-red muscle fibers, Myopathy, Weakness o...	OMIM:616239
Autosomal Recessive Ataxia, Beauce Type	Lower limb spasticity, Skeletal muscle atrophy, Ataxia, Kyphosis, Babinski sign, Dysmetria, Clums...	ORPHA:88644
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongue tremor, Upper limb muscle weakn...	ORPHA:466768
Neuropathy, Hereditary, With Liability To Pressure Palsies	Vocal cord paralysis, Muscle weakness, Hand muscle weakness	OMIM:162500
Amyotrophic Lateral Sclerosis 11	Skeletal muscle atrophy	OMIM:612577
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degr...	OMIM:115197
Autosomal Recessive Spastic Paraplegia Type 9B	Skeletal muscle atrophy, Short stature, Postural tremor, Kyphoscoliosis, Babinski sign, Tetrapleg...	ORPHA:447760
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Death in infancy, Neonatal respiratory distress, Congenital contracture, Sc...	OMIM:615042
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Skeletal muscle atrophy, Death in infancy, Neonatal respiratory distress, Poor head control, Resp...	OMIM:245400
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Distal muscle weakness, Ataxia, Dysmetria, Spastic dysarthria, Abnormal mitochondria in muscle ti...	ORPHA:313772
Familial Partial Lipodystrophy, Dunnigan Type	Dysmenorrhea, Congestive heart failure, Abnormality of skeletal muscle fiber size, Secondary amen...	ORPHA:2348
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Decreased muscle mass, Decreased muscle glycogen content, Neck flexor weakness, Abdominal wall mu...	ORPHA:263297
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis, Congenital fibrosis of extraocular muscles, Restrictive partial external ophthalmoplegia	OMIM:609384
Carey-Fineman-Ziter Syndrome 1	Skeletal muscle atrophy, Distal muscle weakness, Facial palsy, Hypoplasia of the musculature, Spi...	OMIM:254940
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Distal amyotrophy, Distal muscle weakness	OMIM:607734
Spastic Paraplegia 53, Autosomal Recessive	Clonus, Kyphosis, Spastic paraplegia, Lower limb hypertonia, Gait disturbance, Upper limb hypertonia	OMIM:614898
Developmental And Epileptic Encephalopathy 68	Respiratory distress, Exaggerated startle response, Clonus, Flexion contracture, Myoclonus, Spast...	OMIM:618201
Spastic Ataxia 5, Autosomal Recessive	Spastic ataxia, Ataxia, Dysmetria, Dysdiadochokinesis, Distal amyotrophy, Myoclonus, Increased in...	OMIM:614487
Siddiqi Syndrome	Flexion contracture, Lower limb amyotrophy	OMIM:618635
Frontotemporal Dementia With Motor Neuron Disease	Bulbar palsy, Distal muscle weakness, Weakness due to upper motor neuron dysfunction, Parkinsonis...	ORPHA:275872
Spastic Paraplegia 39, Autosomal Recessive	Distal amyotrophy, Distal lower limb muscle weakness, Ataxia, Gait disturbance	OMIM:612020
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Failure to...	ORPHA:264675
Amyotrophic Lateral Sclerosis 1	Skeletal muscle atrophy, Pseudobulbar paralysis, Fasciculations, Spasticity, Muscle weakness	OMIM:105400
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Camptodactyly of finger, Cachexia, Metacarpal osteolysis, Gait disturbance, Carpal osteolysis	ORPHA:2774
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Thoracic scoliosis, Short neck, Gowers sign, Flexion contracture, Axial mus...	OMIM:620369
Spinocerebellar Ataxia Type 18	Gait ataxia, Skeletal muscle atrophy, Muscle weakness, Dysmetria	ORPHA:98771
Schwartz-Jampel Syndrome, Type 1	Skeletal muscle atrophy, Cervical kyphosis, Micromelia, Short neck, Bowing of the legs, Quadricep...	OMIM:255800
Ataxia-Telangiectasia	Skeletal muscle atrophy, Telangiectasia of the skin, Ataxia, Gait disturbance, Failure to thrive,...	ORPHA:100
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome	Spastic ataxia, Spinal muscular atrophy, Spastic tetraparesis, Progressive spastic paraparesis, G...	ORPHA:496756
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Ataxia, Tremor, Rhabdomyolysis, Myopathy, Muscle weakness	ORPHA:713
Spastic Ataxia, Charlevoix-Saguenay Type	Progressive truncal ataxia, Spastic ataxia, Swan neck-like deformities of the fingers, Distal mus...	OMIM:270550
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Ataxia, Respiratory insufficiency due to muscle weakness, Ophthalmoparesis,...	OMIM:220110
Whipple Disease	Myositis, Ataxia, Cachexia, Abnormal pyramidal sign, Respiratory insufficiency, Myoclonus, Cough,...	ORPHA:3452
Poliomyelitis	Skeletal muscle atrophy, Respiratory failure requiring assisted ventilation, Bulbar palsy, Hypopl...	ORPHA:2912
Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Respiratory failure, Paralysis	ORPHA:132
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities	Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Respiratory ins...	OMIM:619173
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Inability to walk, Skeletal muscle atrophy, Foot joint contracture, Cryptorchidism	ORPHA:457205
Microhydranencephaly	Skeletal muscle atrophy, Poor head control, Multiple joint contractures, Short stature, Spastic t...	OMIM:605013
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Skeletal muscle atrophy, Finger syndactyly, Short stature, Cachexia, Kyphosis, Scoliosis, Genu varum	ORPHA:1969
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	Calf muscle hypertrophy, Skeletal muscle atrophy, Myositis, Proximal muscle weakness in lower limbs	ORPHA:565899
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Overlapping f...	OMIM:618291
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Reduced vital capacity, Kyphoscoliosis, Hand muscle weak...	ORPHA:99956
Optic Atrophy 11	Ataxia, Gait apraxia, Dysmetria, Facial diplegia, Athetosis, Bilateral talipes equinovarus, Incre...	OMIM:617302
Charcot-Marie-Tooth Disease, Type 4C	Distal muscle weakness, Facial palsy, Proximal muscle weakness, Upper limb muscle weakness, Dista...	OMIM:601596
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Skeletal muscle atrophy, Clonus, Spastic tetraparesis, Inability to walk, Talipes equinovarus, Sc...	OMIM:617481
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Progressive external ophthalmoplegia, Ataxia, Tremor, Chorea, Oculomotor apraxia, Limb ataxia, Ga...	OMIM:208920
Cystinosis	Short stature, Abnormal pyramidal sign, Myopathy, Gait disturbance, Delayed puberty, Failure to t...	ORPHA:213
Spinocerebellar Ataxia 36	Skeletal muscle atrophy, Incoordination, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Hyperto...	OMIM:614153
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Death in early adulthood, Progressive external ophthalmoplegia, Distal muscle weakness, Cachexia,...	OMIM:603041
Sialidosis Type 1	Skeletal muscle atrophy, Ataxia, Short stature, Tremor, Kyphosis, Slurred speech, Abnormal form o...	ORPHA:812
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Short stature, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyram...	ORPHA:397946
Lopes-Maciel-Rodan Syndrome	Tremor, Kyphosis, Unsteady gait, Abnormal pyramidal sign, Small hand, Bradykinesia, Ankle clonus,...	OMIM:617435
Idiopathic Achalasia	Wheezing, Weight loss, Recurrent aspiration pneumonia, Cough	ORPHA:930
Myotonic Dystrophy 2	Tachycardia, Neck flexor weakness, Proximal muscle weakness, Oligozoospermia, Right bundle branch...	OMIM:602668
Immunodeficiency 95	Respiratory distress, Respiratory failure, Recurrent viral pneumonia	OMIM:619773
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Clonus, Babinski sign, Spastic paraplegia, Distal amyotrophy, Gait disturbance, Spasticity, Progr...	ORPHA:139578
Giant Axonal Neuropathy 1, Autosomal Recessive	Distal muscle weakness, Facial palsy, Proximal muscle weakness, Spastic paraplegia, Abnormal pyra...	OMIM:256850
Deafness, X-Linked 5, With Peripheral Neuropathy	Skeletal muscle atrophy, Unsteady gait	OMIM:300614
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Proximal muscle weakness, Ragged-red muscle fibers, Dilated cardiomyopathy, Ophthalmoparesis, Gai...	ORPHA:70595
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Distal amyotrophy, Steppage gait, Ataxia	OMIM:607250
Autosomal Recessive Spastic Paraplegia Type 53	Upper limb hypertonia, Kyphosis, Failure to thrive, Clonus	ORPHA:319199
Ring Chromosome 10 Syndrome	Sandal gap, Cachexia, Tapered finger, Short neck, Intrauterine growth retardation	ORPHA:1438
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Respiratory distress, Small ...	ORPHA:26793
Borjeson-Forssman-Lehmann Syndrome	Shortening of all middle phalanges of the fingers, Short stature, Tapered finger, Kyphosis, Short...	OMIM:301900
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Metaphyseal widening, Short meta...	ORPHA:93314
Avian Influenza	Respiratory distress, Pneumonia, Productive cough, Congestive heart failure, Nonproductive cough,...	ORPHA:454836
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Akinesia, Dilated cardiomyopathy, Respiratory failure, Arthrogryposis mu...	OMIM:607598
Odontochondrodysplasia	Respiratory distress, Death in infancy, Bowing of the long bones, Short stature, Micromelia, Coxa...	ORPHA:166272
Chronic Hiccup	Abnormality of the diaphragm, Weight loss	ORPHA:396
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Skeletal muscle atrophy, Small for gestational age, Loss of ability to walk in early childhood, R...	OMIM:612073
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Lumbar hyperlordosis, Distal muscle weakness, Proximal muscle weakness, Limb muscle weakness, Dis...	OMIM:601152
Complete Atrioventricular Septal Defect	Crackles, Tachypnea, Atrioventricular block, Abnormal EKG, Intercostal retractions, Elevated pulm...	ORPHA:1329
Glycogen Storage Disease Iv	Skeletal muscle atrophy, Portal hypertension, Cardiomyopathy, Arthrogryposis multiplex congenita,...	OMIM:232500
Leukodystrophy, Hypomyelinating, 3	Appendicular spasticity, Death in infancy, Kyphoscoliosis, Abnormal pyramidal sign, Spastic parap...	OMIM:260600
Chanarin-Dorfman Syndrome	Myopathy, Ataxia, Muscle weakness	OMIM:275630
Odontochondrodysplasia 1	Respiratory distress, Death in infancy, Biconvex vertebral bodies, Short metacarpal, Short statur...	OMIM:184260
Developmental And Epileptic Encephalopathy 51	Skeletal muscle atrophy, Poor head control, Inability to walk, Failure to thrive, Muscle weakness	OMIM:617339
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Gait disturbance, Proximal muscle weakness, Proximal amyotrophy	OMIM:604484
Leukodystrophy, Hypomyelinating, 5	Truncal titubation, Babinski sign, Abnormal pyramidal sign, Lower limb amyotrophy, Scoliosis, Los...	OMIM:610532
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5	Myopathy, Ataxia, Progressive external ophthalmoplegia, Gait ataxia	OMIM:613077
Folinic Acid-Responsive Seizures	Respiratory distress, Broad-based gait, Ataxia, Apnea, Spastic tetraparesis, Chorea, Hypertonia, ...	ORPHA:79097
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Skeletal muscle atrophy, Parkinsonism, Paraparesis, Tetraparesis, Extrapyramidal dyskinesia, Apra...	OMIM:105550
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Skeletal muscle atrophy, Tapered finger, Tremor, Inability to walk, Long fingers, Flexion contrac...	OMIM:218000
Juvenile Huntington Disease	Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive cerebellar ata...	ORPHA:248111
Spastic Paraplegia 85, Autosomal Recessive	Lower limb spasticity, Torticollis, Babinski sign, Spastic paraplegia, Upper limb spasticity, Gen...	OMIM:619686
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Distal amyotrophy, Distal muscle weakness	OMIM:606482
Snakebite Envenomation	Tachycardia, Epistaxis, Myocardial infarction, Rhabdomyolysis, Intracranial hemorrhage, Respirato...	ORPHA:449285
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia	Distal amyotrophy	OMIM:205200
Peripartum Cardiomyopathy	Crackles, Ventricular tachycardia, Left bundle branch block, Abnormal T-wave, Dilated cardiomyopa...	ORPHA:563
Adrenomyodystrophy	Myopathy, Failure to thrive	ORPHA:977
Melorheostosis	Skeletal muscle atrophy, Failure to thrive	ORPHA:2485
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Lethargy, Failure to thrive	OMIM:237310
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Abnormal muscle fiber morphology, Preaxia...	OMIM:175700
Gerstmann-Straussler Disease	Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weight loss, Myoclonus, T...	OMIM:137440
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Tuberculosis	Weight loss, Cough	ORPHA:3389
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P...	ORPHA:1302
Autosomal Recessive Spastic Paraplegia Type 77	Lower limb spasticity, Poor head control, Weakness due to upper motor neuron dysfunction, Sudden ...	ORPHA:466722
Charcot-Marie-Tooth Disease, Type 4A	Distal muscle weakness, Inability to walk by childhood/adolescence, Distal amyotrophy, Hammertoe,...	OMIM:214400
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Overlapping toe, Short stature, Tremor, Ophthalmoplegia, EMG: myopathic abnormalities, Muscle wea...	ORPHA:457365
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Skeletal muscle atrophy, Streak ovary, Distal muscle weakness, Testicular dysgenesis, Primary ame...	ORPHA:168563
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Skeletal muscle atrophy, Postnatal growth retardation, Abnormal pyramidal sign, Spastic tetrapleg...	OMIM:615419
Huntington Disease	Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babinski sign, Generalized mu...	ORPHA:399
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Large for gestational age, Macroglossia, Bradycardia, Absent ossification o...	ORPHA:226313
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome	Skeletal muscle atrophy, Gait disturbance	ORPHA:2840
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Short stature, Kyphosis, Small hand, Short foot, Talipes equinovarus, Scoliosis	OMIM:300434
Cleft Palate-Large Ears-Small Head Syndrome	Skeletal muscle atrophy, Short distal phalanx of finger, Ulnar deviation of finger	ORPHA:2013
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp...	OMIM:609813
Autosomal Dominant Spastic Paraplegia Type 12	Lower limb muscle weakness, Limb ataxia, Male sexual dysfunction, Difficulty walking, Female sexu...	ORPHA:100993
X-Linked Creatine Transporter Deficiency	Short stature, Ataxia, Cachexia, Chorea, Athetosis, Hypertonia	ORPHA:52503
Charcot-Marie-Tooth Disease, Type 4D	Distal muscle weakness, Claw hand deformity, Kyphoscoliosis, Proximal muscle weakness, Talipes ca...	OMIM:601455
Bannayan-Riley-Ruvalcaba Syndrome	Skeletal muscle atrophy, Abdominal wall muscle weakness, Short stature, Cachexia, Myopathy, Scoli...	ORPHA:109
Richieri Costa-Da Silva Syndrome	Decreased muscle mass, Short stature, Diastasis recti, Kyphoscoliosis, Short neck, Metatarsus add...	ORPHA:3101
Kniest Dysplasia	Respiratory distress, Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Short neck, Disprop...	OMIM:156550
Pontocerebellar Hypoplasia, Type 16	Skeletal muscle atrophy, Apnea, Spastic tetraplegia, Abnormality of extrapyramidal motor function...	OMIM:619527
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Ataxia, Kyphosis, Gait disturbance, Scoliosis, Muscle weakness	ORPHA:85317
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss, Rhabdomyolysis, Muscle weakness, Periodic paralysis	OMIM:188580
Classical-Like Ehlers-Danlos Syndrome Type 1	Gastrointestinal hemorrhage, Skeletal muscle atrophy, Proximal muscle weakness, Arrhythmia, Muscl...	ORPHA:230839
Juvenile Hyaline Fibromatosis	Skeletal muscle atrophy, Abnormal diaphysis morphology, Progressive flexion contractures	ORPHA:2028
Machado-Joseph Disease Type 1	Distal lower limb amyotrophy, Skeletal muscle atrophy, Progressive external ophthalmoplegia, Faci...	ORPHA:276238
Machado-Joseph Disease Type 2	Distal lower limb amyotrophy, Skeletal muscle atrophy, Progressive external ophthalmoplegia, Faci...	ORPHA:276241
Digital Extensor Muscle Aplasia-Polyneuropathy	Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Camptodactyly of ...	ORPHA:2926
Muscle-Eye-Brain Disease	Hemiplegia/hemiparesis, Hypertonia, Gait disturbance, Myopathy	ORPHA:588
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Short stature, Tapered finger, Kyphosis, Obesity, Large hands, Scoliosis	ORPHA:276630
Spinocerebellar Ataxia 2	Ataxia, Parkinsonism, Postural tremor, Rigidity, Ophthalmoplegia, Unsteady gait, Babinski sign, L...	OMIM:183090
Spinocerebellar Ataxia 1	Skeletal muscle atrophy, Bulbar palsy, Distal muscle weakness, Proximal muscle weakness, Chorea, ...	OMIM:164400
Autism Spectrum Disorder Due To Auts2 Deficiency	Cerebral palsy, Short stature, Small for gestational age, Kyphosis, Congenital contracture, Hyper...	ORPHA:352490
Intellectual Developmental Disorder, Autosomal Dominant 26	Cerebral palsy, Short stature, Small for gestational age, Kyphosis, Hypertonia, Scoliosis, Clinod...	OMIM:615834
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Skeletal muscle atrophy, Ulnar deviation of the hand, Short stature, Limb joint contracture, Kyph...	OMIM:612079
Mitochondrial Dna-Associated Leigh Syndrome	Apnea, Ataxia, Cardiac conduction abnormality, Dyspnea, Dilated cardiomyopathy, Ragged-red muscle...	ORPHA:255210
Holocarboxylase Synthetase Deficiency	Respiratory distress, Ataxia, Tachypnea, Weight loss, Growth delay, Lethargy	ORPHA:79242
Aredyld Syndrome	Short stature, Cachexia, Scoliosis, Intrauterine growth retardation, Brachydactyly	ORPHA:1133
Mitochondrial Complex I Deficiency, Nuclear Type 26	Choreoathetosis, Distal amyotrophy, Respiratory insufficiency, Limb hypertonia	OMIM:618247
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Distal lower limb amyotrophy, Short stature, Sandal gap, Tremor, Kyphosis, Small hand, Gait ataxi...	OMIM:300354
Spinocerebellar Ataxia Type 36	Skeletal muscle atrophy, Ataxia, Babinski sign, Limb myoclonus, Limb ataxia, Dysmetria, Hand trem...	ORPHA:276198
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Kyphosis, Truncal obesity, Gait disturbance, Scoliosis, Spasticity	ORPHA:2429
Deafness-Vitiligo-Achalasia Syndrome	Skeletal muscle atrophy	ORPHA:3239
Machado-Joseph Disease Type 3	Distal lower limb amyotrophy, Skeletal muscle atrophy, Progressive external ophthalmoplegia, Dist...	ORPHA:276244
Amyotrophy, Monomelic	Upper limb muscle weakness, Cold paresis, Interosseus muscle atrophy	OMIM:602440
Malaria	Respiratory distress, Gait imbalance	ORPHA:673
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Intercostal muscle weakness...	ORPHA:258
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Apneic episodes in infancy, Generalized amyotrophy	OMIM:610006
Richards-Rundle Syndrome	Distal amyotrophy, Gait disturbance, Hypergonadotropic hypogonadism, Ataxia	ORPHA:1399
Cog8-Cdg	Skeletal muscle atrophy, Poor head control, Failure to thrive, Ataxia	ORPHA:95428
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Chorea, Choreoathetosis, Ataxia, Ophthalmop...	ORPHA:506
Thyrocerebroretinal Syndrome	Skeletal muscle atrophy, Ataxia	OMIM:274240
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta...	ORPHA:411703
Wieacker-Wolff Syndrome, Female-Restricted	Hip contracture, Radial deviation of the hand, Distal muscle weakness, Short stature, Facial pals...	OMIM:301041
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Skeletal muscle atrophy, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Hypertonia, G...	OMIM:617710
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress, Hemiplegia/hemiparesis, Chorea, Growth delay, Choreoathetosis, Lethargy	ORPHA:289916
Zimmermann-Laband Syndrome 3	Aplasia of the distal phalanx of the 5th toe, Kyphosis, Flexion contracture, Absent distal phalan...	OMIM:618658
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress, Tapered finger, Flexion contracture, Hypertonia, Scoliosis, Finger joint hy...	ORPHA:544503
Perry Syndrome	Hypoventilation, Parkinsonism, Akinesia, Central hypoventilation, Tremor, Rigidity, Respiratory i...	OMIM:168605
Madras Motor Neuron Disease	Distal amyotrophy, Distal muscle weakness, Bulbar palsy, Facial palsy	ORPHA:137867
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Short metatarsal, Coxa...	OMIM:251450
Glycogen Storage Disease Vii	Increased muscle glycogen content, Increased variability in muscle fiber diameter, Muscle weakness	OMIM:232800
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Bulbar palsy, Parkinsonism, Muscle weakness, Paralysis	OMIM:105500
Huntington Disease-Like 2	Rigidity, Chorea, Weight loss, Bradykinesia, Action tremor	OMIM:606438
X-Linked Intellectual Disability, Seemanova Type	Skeletal muscle atrophy, Small for gestational age, Hypoplasia of the musculature, Cryptorchidism...	ORPHA:85323
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Skeletal muscle atrophy, Limb muscle weakness, Paralysis	OMIM:612300
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Skeletal muscle atrophy, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical ...	OMIM:112250
Rett Syndrome	Skeletal muscle atrophy, Limb apraxia, Inability to walk, Bradykinesia, Gait disturbance, Difficu...	ORPHA:778
Heart Defects-Limb Shortening Syndrome	Death in infancy, Mesomelic/rhizomelic limb shortening, Kyphosis, Disproportionate short stature,...	ORPHA:1354
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress, Congenital diaphragmatic hernia	OMIM:606164
Boucher-Neuhauser Syndrome	Distal amyotrophy, Hypogonadotropic hypogonadism, Ataxia, Gait ataxia	OMIM:215470
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Tachypnea, Respiratory failure, Cough, Failure to thrive	OMIM:263000
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Inability to walk, Kyphosis, Chorea, Abnormal pyramidal sign, Gait ataxia, Abnormality of extrapy...	ORPHA:500180
Ataxia-Telangiectasia-Like Disorder 1	Ataxia, Unsteady gait, Dysmetria, Gait ataxia, Choreoathetosis, Telangiectasia, Distal amyotrophy...	OMIM:604391
Majeed Syndrome	Cachexia, Flexion contracture, Weight loss, Cough, Failure to thrive, Metaphyseal irregularity	ORPHA:77297
Multiple Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Scapular winging, Poor head control, Proximal muscle weakness, Congestiv...	ORPHA:26791
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Ophthalmoplegia, Ophthalmoparesis, Fatigable weakness, Myopathy, Muscle flaccidity, Oculomotor ne...	ORPHA:257
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Skeletal muscle atrophy, Short humerus, Short femur, Apnea, Ragged-red musc...	ORPHA:17
Tetrasomy 12P	Short stature, Cachexia, Short neck	ORPHA:884
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Muscle fiber atrophy, Failure to thrive, Flexion contracture	OMIM:620240
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Disc-like vertebral bodies, Rhizomelia, Ovoid vertebral bodies, Micromelia,...	OMIM:151210
Isolated Atp Synthase Deficiency	Respiratory distress, Short stature, Ataxia, Ophthalmoplegia, Spastic paraplegia, Tetraplegia, Le...	ORPHA:254913
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Skeletal muscle atrophy	ORPHA:2400
Ataxia-Oculomotor Apraxia 3	Distal amyotrophy, Ataxia, Muscle weakness, Dysmetria	OMIM:615217
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Flexion contracture, Cachexia, Weight loss	ORPHA:1979
Axial Osteomalacia	Myopathy	OMIM:109130
Spinocerebellar Ataxia Type 26	Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Fa...	ORPHA:101112
Charcot-Marie-Tooth Disease Type 4C	Neuropathic spinal arthropathy, Hypoventilation, Failure to thrive, Distal muscle weakness, Weakn...	ORPHA:99949
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Distal lower limb amyotrophy, Exaggerated startle response, Multiple joint contractures, Distal a...	ORPHA:320406
Japanese Encephalitis	Respiratory distress, Skeletal muscle atrophy, Tremor, Opisthotonus, Choreoathetosis, Hypertonia,...	ORPHA:79139
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Increased variability in muscle fiber diameter, Respiratory failure, Muscular dystrophy, Poor hea...	OMIM:616538
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force...	OMIM:610913
Carey-Fineman-Ziter Syndrome	Skeletal muscle atrophy, Short stature, Facial palsy, Aplasia of the pectoralis major muscle, Uln...	ORPHA:1358
Combined Oxidative Phosphorylation Defect Type 27	Ragged-red muscle fibers, Tetraparesis, Involuntary movements, Upper limb postural tremor	ORPHA:477774
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Skeletal muscle atrophy, Short stature, Ataxia, Kyphoscoliosis, Short neck, Hypoplasia of the odo...	OMIM:300232
Tetrasomy 5P	Respiratory distress, Overlapping toe, Short hallux, Long fingers, Congestive heart failure, Apla...	ORPHA:3309
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Generalized limb muscle atrophy, Facial diplegia, Cardiomyopathy, Steppage gait, Lower limb muscl...	ORPHA:521411
Postencephalitic Parkinsonism	Resting tremor, Camptocormia, Involuntary movements, Akinesia, Rigidity, Kyphosis, Babinski sign,...	ORPHA:97349
Hypotonia-Cystinuria Syndrome	Hypergonadotropic hypogonadism, Facial palsy, Ragged-red muscle fibers, Failure to thrive, Muscle...	OMIM:606407
Spondyloepiphyseal Dysplasia Congenita	Waddling gait, Respiratory distress, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hy...	OMIM:183900
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Multiple joint contractures, Facial palsy, Hyperlordosis, Tremor, Inability to walk,...	OMIM:128100
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Proximal muscle we...	OMIM:232300
Chronic Pneumonitis Of Infancy	Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi...	ORPHA:91359
Schaaf-Yang Syndrome	Short stature, Failure to thrive in infancy, Rocker bottom foot, Tapered finger, Inability to wal...	OMIM:615547
Loeffler Endocarditis	Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail...	ORPHA:75566
Overlap Myositis	Proximal muscle weakness in upper limbs, Subluxation of the small joints of the hand, Proximal mu...	ORPHA:206572
Spastic Paraplegia 9A, Autosomal Dominant	Lower limb spasticity, Resting tremor, Distal muscle weakness, Short stature, Hoffmann sign, Babi...	OMIM:601162
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Skeletal muscle atrophy, Hypogonadotropic hypogonadism, Facial palsy, Abnormal muscle fiber morph...	ORPHA:3068
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Skeletal muscle atrophy, Failure to thrive	OMIM:618603
Laryngotracheoesophageal Cleft Type 4	Cachexia, Respiratory insufficiency, Abnormal form of the vertebral bodies	ORPHA:93941
Niemann-Pick Disease, Type A	Skeletal muscle atrophy, Inability to walk, Athetosis, Failure to thrive, Muscle weakness	OMIM:257200
Posterior Column Ataxia With Retinitis Pigmentosa	Skeletal muscle atrophy, Broad-based gait, Distal muscle weakness, Ataxia, Joint contracture of t...	OMIM:609033
Autosomal Recessive Spastic Paraplegia Type 78	Skeletal muscle atrophy, Babinski sign, Abnormal pyramidal sign, Progressive cerebellar ataxia, P...	ORPHA:513436
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bundle branch block, Asymmetric sept...	OMIM:608758
Amyotrophy, Hereditary Neuralgic	Skeletal muscle atrophy, Muscle weakness	OMIM:162100
Spinocerebellar Ataxia, Autosomal Recessive 8	Kyphosis, Limb ataxia, Gait ataxia, Dysmetria, Abnormality of extrapyramidal motor function, Scol...	OMIM:610743
Crisponi Syndrome	Death in infancy, Camptodactyly of finger, Kyphosis, Flexion contracture, Respiratory insufficien...	ORPHA:1545
Paramyotonia Congenita Of Von Eulenburg	Neonatal inspiratory stridor, Facial muscle hypertrophy, Cold paresis, EMG: myopathic abnormaliti...	ORPHA:684
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Neonatal respiratory distress, Broad-based gait, Ataxia, Crackles, Asthma, ...	OMIM:610978
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Tricuspid regurgitation, Congestive heart failure, Chronic pulmonary obstru...	ORPHA:2414
Toxin-Mediated Infectious Botulism	Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Dyspnea, Diaphragmat...	ORPHA:230800
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Abnormal metatarsal morphology, Abnormal curvature of the vertebral column, Genu varum, Short sta...	ORPHA:93360
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Skeletal muscle atrophy, Ataxia, Ophthalmoplegia, Flexion contracture, Loss of ability to walk in...	OMIM:300243
Huntington Disease-Like 1	Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait ataxia, Bradykines...	ORPHA:157941
Laryngotracheal Angioma	Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezing, Bronchiectasis, Clubbing, ...	ORPHA:79127
Machado-Joseph Disease	Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigidity, External ophthalmoplegia, Babinski...	OMIM:109150
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Prolonged QRS complex, Apnea, Left axis deviation, Congestive heart failure...	OMIM:261740
Focal Myositis	Myositis, Muscle weakness, Weight loss	ORPHA:48918
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity	Lower limb spasticity, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Spastic dysarthria, P...	ORPHA:352641
Myoglobinuria, Recurrent	Ragged-red muscle fibers	OMIM:550500
Staphylococcal Necrotizing Pneumonia	Shock, Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Ac...	ORPHA:36238
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se...	ORPHA:99106
L1 Syndrome	Skeletal muscle atrophy, Gait disturbance, Adducted thumb	ORPHA:275543
Uruguay Faciocardiomusculoskeletal Syndrome	Waddling gait, Hallux valgus, Left ventricular hypertrophy, Kyphoscoliosis, Kyphosis, Skeletal mu...	OMIM:300280
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Choreoathetosis, Lethargy, Failure to thrive, Respiratory distress	ORPHA:79312
Winchester Syndrome	Kyphosis, Osteolysis involving tarsal bones, Broad metacarpals, Carpal osteolysis	OMIM:277950
Genetic Recurrent Myoglobinuria	Proximal muscle weakness in upper limbs, Myositis, Viral infection-induced rhabdomyolysis, Fatiga...	ORPHA:99845
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Dyspnea, Ventricular t...	OMIM:612098
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Scapular winging, Clonus, Bronchiectasis, Small thenar eminence, Distal lower limb muscle weaknes...	OMIM:620080
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, Contractures of the large joints, Poor head control, Failure to thrive	ORPHA:329178
Laryngeal Adductor Paralysis	Paralysis	OMIM:150270
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Micromeli...	ORPHA:2635
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Telangiectasia of the skin, Telangiectasia, Generalized amyotrophy, Hypertrophic cardiomyopathy, ...	ORPHA:79279
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Overlapping toe, Inability to walk, Flexion contracture, Gait ataxia, Overl...	OMIM:619383
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu...	ORPHA:140896
Hereditary Sensory And Autonomic Neuropathy Type 2	Skeletal muscle atrophy, Foot acroosteolysis, Tapered finger	ORPHA:970
Fryns-Smeets-Thiry Syndrome	Arachnodactyly, Short stature, Cachexia, Patellar aplasia, Scoliosis	ORPHA:2058
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Failure to thrive, Severe short stature, Lymphocytic interstitial pneumonia	OMIM:245590
19Q13.11 Microdeletion Syndrome	Finger syndactyly, Toe syndactyly, Cachexia, Growth delay, Toe clinodactyly, Clinodactyly of the ...	ORPHA:217346
Kearns-Sayre Syndrome	Progressive external ophthalmoplegia, Ataxia, Ragged-red muscle fibers, Cardiomyopathy, Third deg...	OMIM:530000
Spastic Paraplegia 15, Autosomal Recessive	Lower limb spasticity, Ataxia, Clonus, Babinski sign, Spastic paraplegia, Paraplegia, Distal amyo...	OMIM:270700
Gm1 Gangliosidosis	Tremor, Abnormal form of the vertebral bodies, Decerebrate rigidity, Aspiration pneumonia, Short ...	ORPHA:354
Chylomicron Retention Disease	Myopathy, EMG: myopathic abnormalities, Failure to thrive	ORPHA:71
15Q24 Microdeletion Syndrome	Short stature, Small for gestational age, Congenital diaphragmatic hernia, Proximal placement of ...	ORPHA:94065
Bardet-Biedl Syndrome	Skeletal muscle atrophy, Finger syndactyly, Cryptorchidism, Postaxial hand polydactyly, Obesity, ...	ORPHA:110
Combined Oxidative Phosphorylation Deficiency 55	Skeletal muscle atrophy, Progressive external ophthalmoplegia, Short stature, Proximal muscle wea...	OMIM:619743
Xp21 Deletion Syndrome	Decreased muscle mass, Growth delay, Myopathy, Calf muscle hypertrophy, Apneic episodes in infanc...	ORPHA:261476
Leber Optic Atrophy	Postural tremor, Myopathy, Ataxia	OMIM:535000
Immunodeficiency 10	Myopathy	OMIM:612783
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Skeletal muscle atrophy, Distal muscle weakness	OMIM:162400
Succinic Acidemia	Respiratory distress	OMIM:600335
Osteomesopyknosis	Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
Oromandibular Dystonia	Respiratory distress, Torticollis, Weight loss	ORPHA:93958
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Persistent fetal circulation, Respiratory distress, Large for gestat...	ORPHA:363705
Neuraminidase Deficiency	Skeletal muscle atrophy, Dysmetria, Muscle weakness, Cardiomyopathy	OMIM:256550
Baralle-Macken Syndrome	Tapered finger, Inability to walk, Kyphosis, Obesity, Spasticity	OMIM:619255
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance	OMIM:619466
Leukodystrophy, Hypomyelinating, 10	Inability to walk, Skeletal muscle atrophy, Failure to thrive, Arachnodactyly	OMIM:616420
Lethal Congenital Contracture Syndrome 1	Skeletal muscle atrophy, Hypoplasia of the musculature, Neonatal death, Arthrogryposis multiplex ...	OMIM:253310
Autosomal Recessive Spastic Paraplegia Type 20	Speech apraxia, Skeletal muscle atrophy, Short stature, Abnormal thumb morphology, Abnormal hand ...	ORPHA:101000
Tay-Sachs Disease	Skeletal muscle atrophy, Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Aspirat...	ORPHA:845
Horner Syndrome, Congenital	Paralysis	OMIM:143000
Combined Oxidative Phosphorylation Deficiency 18	Tremor, Intrauterine growth retardation, Dysmetria, Skeletal muscle atrophy	OMIM:615578
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Ataxia, Paraplegia, Lethargy, Failure to thrive	ORPHA:927
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Rhizomelia, Ataxia, Tremor, Flexion contracture, Recurrent pneumonia, Opist...	OMIM:616271
X-Linked Adrenoleukodystrophy	Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis,...	ORPHA:43
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Arachnodactyly, Ophthalmoplegia, Unsteady gait, Truncal ataxia, Limb ataxia, Distal amyotrophy, H...	ORPHA:412057
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Intrauterine growth retardation, Failure to thrive, Death in childhood	OMIM:615597
Nijmegen Breakage Syndrome	Skeletal muscle atrophy, Short stature, Rhabdomyosarcoma, Short neck, Cachexia, Recurrent pneumon...	ORPHA:647
Diastrophic Dysplasia	Bowing of the long bones, Camptodactyly of finger, Micromelia, Proximal placement of thumb, Kypho...	ORPHA:628
Autosomal Recessive Spastic Paraplegia Type 55	Lower limb spasticity, Skeletal muscle atrophy, Tibialis muscle weakness, Ophthalmoplegia, Babins...	ORPHA:320375
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Lumbar hyperlordosis, Rhizomelia, Severe short stature, Kyph...	OMIM:616482
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Abnormal muscle fiber morphology, Rhabdomyolysis, Shortened PR interval, O...	ORPHA:79102
Hall-Riggs Syndrome	Metaphyseal dysplasia, Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Intraut...	OMIM:234250
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Failure to thrive, Ulnar deviation of the 3rd finger, Ataxia, Mild postnatal growth retardation, ...	ORPHA:456312
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p...	OMIM:610921
Hypermethioninemia Due To Adenosine Kinase Deficiency	Skeletal muscle atrophy, Failure to thrive, Muscle weakness, Pulmonic stenosis	OMIM:614300
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Abnormal heart rate variability,...	ORPHA:70588
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short m...	OMIM:617102
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Waddling gait, Skeletal muscle atrophy, Poor head control, Kyphoscoliosis, Atlantoaxial instabili...	OMIM:614557
Pelger-Huet Anomaly	Kyphosis, Upper limb undergrowth, Lower limb hypertonia, Short 5th metacarpal, Polydactyly, Short...	OMIM:169400
Familial Isolated Hypoparathyroidism	Myopathy	ORPHA:2238
Amyotrophic Dystonic Paraplegia	Skeletal muscle atrophy	OMIM:105300
Refsum Disease	Skeletal muscle atrophy, Short metacarpal, Ataxia, Heart block, Respiratory insufficiency, Cardio...	ORPHA:773
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2	Growth delay, Skeletal muscle atrophy, Oculomotor apraxia, Short stature	OMIM:619759
Jaberi-Elahi Syndrome	Appendicular spasticity, Broad-based gait, Distal muscle weakness, Tremor, Kyphosis, Inability to...	OMIM:617988
Scleromyxedema	Distal muscle weakness, Proximal muscle weakness, Abnormal skeletal muscle morphology, Myopathy, ...	ORPHA:167635
Cronkhite-Canada Syndrome	Cachexia, Tapered finger	ORPHA:2930
Bruck Syndrome 1	Hip contracture, Short stature, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, V...	OMIM:259450
Xfe Progeroid Syndrome	Severe short stature, Cachexia, Poor coordination, Death in adolescence, Scoliosis, Failure to th...	OMIM:610965
Mantle Cell Lymphoma	Weight loss	ORPHA:52416
Lissencephaly 8	Skeletal muscle atrophy, Talipes equinovarus	OMIM:617255
Borjeson-Forssman-Lehmann Syndrome	Skeletal muscle atrophy, Tapered finger, Cryptorchidism, Short toe, Truncal obesity, Hypogonadism...	ORPHA:127
Achondroplasia	Respiratory distress, Death in infancy, Brachydactyly, Lumbar hyperlordosis, Rhizomelia, Radial b...	OMIM:100800
Cockayne Syndrome	Skeletal muscle atrophy, Severe short stature, Ataxia, Cachexia, Action tremor, Postnatal growth ...	ORPHA:191
Glycogen Storage Disease Xii	Short stature, Short neck, Myopathy, Delayed puberty, Increased variability in muscle fiber diame...	OMIM:611881
Xanthinuria, Type I	Myopathy	OMIM:278300
Bruck Syndrome	Bowing of the long bones, Short stature, Kyphosis, Respiratory insufficiency, Platyspondyly, Tali...	ORPHA:2771
Melas	Progressive external ophthalmoplegia, Abnormal central motor function, Ataxia, Short stature, Rag...	ORPHA:550
Musculocontractural Ehlers-Danlos Syndrome	Decreased muscle mass, Cervical kyphosis, Kyphoscoliosis, Tapered finger, Pneumothorax, Myopathy,...	ORPHA:2953
X-Linked Intellectual Disability Due To Gria3 Mutations	Distal muscle weakness, Short stature, Facial hypotonia, Kyphosis, Babinski sign, Myoclonus, Scol...	ORPHA:364028
Carnitine Palmitoyl Transferase 1A Deficiency	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Arrhythmia, Sudden cardiac death	ORPHA:156
Diaphanospondylodysostosis	Respiratory distress, Abnormal vertebral segmentation and fusion, Absent or minimally ossified ve...	ORPHA:66637
Acquired Methemoglobinemia	Respiratory distress, Tachycardia, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia	ORPHA:464453
Deafness, Congenital, With Vitiligo And Achalasia	Skeletal muscle atrophy	OMIM:221350
Acute Lung Injury	Shock, Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Hypoxemi...	ORPHA:178320
Choreoacanthocytosis	Skeletal muscle atrophy, Limb muscle weakness, Progressive choreoathetosis	OMIM:200150
Cocaine Intoxication	Prolonged QT interval, Respiratory distress, Tachycardia, Prolonged QRS complex, Myocardial infar...	ORPHA:90068
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hallux valgus, Spontaneous, recurrent epistaxis, Broad-based gait, Cachexia, Paralysis, Oculomoto...	ORPHA:2072
Brain-Lung-Thyroid Syndrome	Respiratory distress, Neonatal respiratory distress, Incoordination, Short stature, Ataxia, Invol...	ORPHA:209905
Acyl-Coa Dehydrogenase 9 Deficiency	Generalized muscle weakness, Fatigable weakness, Myopathy, EMG: myopathic abnormalities, Failure ...	ORPHA:99901
Myasthenia, Limb-Girdle, Autoimmune	Fatigable weakness, Type 2 muscle fiber atrophy, Ophthalmoparesis, Proximal amyotrophy	OMIM:159400
Facioscapulohumeral Dystrophy	Skeletal muscle atrophy	ORPHA:269
Congenital Myopathy 13	Skeletal muscle atrophy, Short stature, Kyphoscoliosis, Hypercapnia, Fatty replacement of skeleta...	OMIM:255995
Fetal Akinesia Deformation Sequence	Multiple joint contractures, Camptodactyly of finger, Akinesia, Cryptorchidism, Respiratory insuf...	ORPHA:994
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Lower limb spasticity, Skeletal muscle atrophy, Ataxia, Inability to walk, Respiratory insufficie...	OMIM:617193
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, First degree atrioventricular block, Supraventricular tachycardia, ...	ORPHA:99105
Pontocerebellar Hypoplasia, Type 7	Skeletal muscle atrophy, Ataxia, Apnea, Spastic paraplegia, Opisthotonus, Choreoathetosis, Hypert...	OMIM:614969
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Skeletal muscle atrophy, Ataxia, Gait ataxia, Cardiomyopathy, Loss of ambulation	OMIM:620089
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Arachnodactyly, Dyspnea, Respiratory failure, Muscle flaccidity, Failure to...	ORPHA:2707
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Arachnodactyly, Dyspnea, Hemivertebrae, Abnormal form of the vertebral bodi...	ORPHA:2759
Carcinoid Syndrome	Myopathy, Asthma, Bronchospasm, Rhinorrhea	ORPHA:100093
Familial Cervical Artery Dissection	Facial palsy, Paralysis	ORPHA:36382
Stt3B-Cdg	Respiratory distress, Cryptorchidism, Failure to thrive	ORPHA:370924
Thymic Carcinoma	Dyspnea, Diaphragmatic paralysis, Weight loss, Fatigable weakness, Cough	ORPHA:99868
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Muscle fiber atrophy, Rhabdomyolysis, Increased muscle lipid content, Muscle weakness	ORPHA:228302
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Short humerus, Short femur, Rhizomelia, Small for gestational age, Sandal g...	OMIM:607143
Abetalipoproteinemia	Broad-based gait, Failure to thrive, Ataxia, Kyphoscoliosis, Ophthalmoplegia, Babinski sign, Dysm...	ORPHA:14
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea	OMIM:267450
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Clubbing of fingers, Clubbing, Muscle weakness, Cachexia	OMIM:175500
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Multiple joint contractures, Metaphyseal widening, Arachnodactyly, Repeated...	ORPHA:536467
Variegate Porphyria	Paralysis	OMIM:176200
Trisomy 18	Short stature, Camptodactyly of finger, Congenital diaphragmatic hernia, Cachexia, Postaxial hand...	ORPHA:3380
Laryngeal Neuroendocrine Tumor	Weight loss, Exertional dyspnea	ORPHA:100083
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Ataxia, Achilles tendon contracture, Babinski sign, Dysmetria, Distal amyotrophy, Spasticity, Int...	OMIM:612674
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Skeletal muscle atrophy, Broad hallux, Arachnodactyly, Ataxia, Inability to walk, Flexion contrac...	ORPHA:481152
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Long toe, Skeletal muscle atrophy, Arachnodactyly, Cryptorchidism, Flexion contracture, Pulmonic ...	ORPHA:75496
Fixed Subaortic Stenosis	Aortic regurgitation, Orthopnea, Paroxysmal atrial fibrillation, Angina pectoris, Congestive hear...	ORPHA:3092
Primary Angiitis Of The Central Nervous System	Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Tetraparesis	ORPHA:140989
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Decreased muscle mass, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski...	OMIM:234200
Ruijs-Aalfs Syndrome	Skeletal muscle atrophy, Elbow flexion contracture, Hypogonadism, Decreased body weight, Clinodac...	OMIM:616200
Pseudoachondroplasia	Metaphyseal widening, Short phalanx of finger, Genu varum, Waddling gait, Short metacarpal, Lumba...	OMIM:177170
Peroxisome Biogenesis Disorder 6B	Ataxia, Unsteady gait, Limb ataxia, Gait ataxia, Distal amyotrophy, Delayed menarche	OMIM:614871
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Abnormal intervertebral disk morphology, Short stature, Camptodactyly of finge...	ORPHA:2311
Hereditary Central Diabetes Insipidus	Growth delay, Lethargy, Weight loss	ORPHA:30925
Sanjad-Sakati Syndrome	Short stature, Postnatal growth retardation, Small hand, Spinal canal stenosis, Short foot, Myopa...	ORPHA:2323
Classic Pantothenate Kinase-Associated Neurodegeneration	Inability to walk, Opisthotonus, Weight loss, Tip-toe gait, Gait disturbance, Aspiration pneumoni...	ORPHA:216866
Congenital Gerbode Defect	Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Crackles, Right ven...	ORPHA:99095
Mercury Poisoning	Respiratory distress, Tachycardia, Dyspnea, Generalized muscle weakness, Hypertension, Respirator...	ORPHA:330021
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Skeletal muscle atrophy, Respiratory failure requiring assisted ventilation, Ataxia, Recurrent pn...	ORPHA:496641
Mcleod Syndrome	Myopathy, Chorea, Rhabdomyolysis, Muscle weakness	OMIM:300842
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Skeletal muscle atrophy, Small for gestational age, Ataxia, Type 2 muscle fiber predominance, Sho...	OMIM:615471
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Congestive heart failure, Metaphyseal widening, Flexion contracture, Clubbi...	OMIM:617303
Idiopathic Camptocormia	Myositis, Abnormal intervertebral disk morphology, Parkinsonism, Fatigable weakness of skeletal m...	ORPHA:1320
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Athetosis, Paralysis	OMIM:300857
Mitochondrial Complex I Deficiency, Nuclear Type 1	Skeletal muscle atrophy, Death in infancy, Poor head control, Ataxia, Apnea, Babinski sign, Ragge...	OMIM:252010
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Respiratory distress, Neonatal respiratory distress, Small for gestational a...	OMIM:260400
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea	OMIM:614669
Barth Syndrome	Gowers sign, Growth delay, Skeletal myopathy, Gait disturbance, Talipes equinovarus, Failure to t...	OMIM:302060
Zimmermann-Laband Syndrome 2	Macroglossia, Kyphosis, Short stature, Short neck	OMIM:616455
Dyggve-Melchior-Clausen Disease	Short neck, Metaphyseal widening, Short metatarsal, Femoral bowing, Tibial bowing, Thoracic kypho...	OMIM:223800
Mucopolysaccharidosis, Type Iva	Waddling gait, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid proc...	OMIM:253000
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Skeletal muscle atrophy, Swelling of proximal interphalangeal joints, Trans...	ORPHA:3260
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Intrauterine growth retardation, Failure to thrive	ORPHA:261304
Smith-Mccort Dysplasia 1	Waddling gait, Short metacarpal, Multicentric femoral head ossification, Short stature, Short nec...	OMIM:607326
Amyotrophic Lateral Sclerosis 4, Juvenile	Distal amyotrophy, Distal muscle weakness, Difficulty walking	OMIM:602433
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress	OMIM:614741
Sandhoff Disease	Skeletal muscle atrophy, Orthostatic hypotension, Ataxia, Macroglossia, Impotence, Muscle weakness	OMIM:268800
Ck Syndrome	Hyperlordosis, Kyphosis, Abnormal digit morphology, Scoliosis, Slender build	OMIM:300831
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Kyphosis, Unsteady gait, Ataxia, Scoliosis	OMIM:300861
Wolman Disease	Growth delay, Cachexia	ORPHA:75233
Farber Disease	Respiratory distress, Skeletal muscle atrophy, Short toe, Flexion contracture, Respiratory insuff...	ORPHA:333
Spondyloepiphyseal Dysplasia Congenita	Back pain, Waddling gait, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short femur, Short...	ORPHA:94068
Nipah Virus Disease	Respiratory distress, Hypotension, Cough	ORPHA:99825
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Hallux valgus, Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Sco...	OMIM:130060
Scleroderma, Familial Progressive	Calcinosis, Chromosome breakage, Abnormality of chromosome stability	OMIM:181750
Sjögren-Larsson Syndrome	Short stature, Kyphosis, Abnormal pyramidal sign, Spastic diplegia, Scoliosis, Spasticity	ORPHA:816
Coffin-Lowry Syndrome	Skeletal muscle atrophy, Death in early adulthood, Short metacarpal, Short stature, Pseudoepiphys...	ORPHA:192
Bone Dysplasia, Lethal Holmgren Type	Metaphyseal dysplasia, Rhizomelia, Micromelia, Short neck, Abnormal thumb morphology, Abnormal fe...	ORPHA:1842
Developmental Malformations-Deafness-Dystonia Syndrome	Death in early adulthood, Short stature, Micromelia, Femoral retroversion, Kyphosis, Macroglossia...	ORPHA:79107
Stormorken Syndrome	Myopathy, Short stature, Epistaxis, Proximal muscle weakness	OMIM:185070
Diaphanospondylodysostosis	Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b...	OMIM:608022
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Broad-based gait, Facial hypotonia, Ataxia	ORPHA:438216
Gaucher Disease, Perinatal Lethal	Respiratory distress, Apnea, Akinesia, Opisthotonus, Decreased body weight, Neonatal death, Intra...	OMIM:608013
Diamond-Blackfan Anemia 10	Respiratory distress, Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia	OMIM:613309
Wilson Disease	Back pain, Increased body weight, Clumsiness, Weight loss, Proximal muscle weakness in lower limb...	ORPHA:905
Congenital Disorder Of Glycosylation, Type Iio	Skeletal muscle atrophy	OMIM:616828
Biotinidase Deficiency	Respiratory distress, Ataxia, Apnea, Spastic paraparesis, Lethargy, Limb muscle weakness, Hyperve...	ORPHA:79241
Steinert Myotonic Dystrophy	Skeletal muscle atrophy, Prolonged QRS complex, Neck flexor weakness, Supraventricular tachycardi...	ORPHA:273
Stickler Syndrome	Skeletal muscle atrophy, Short stature, Arachnodactyly, Cachexia, Kyphosis, Hemiplegia/hemiparesi...	ORPHA:828
Arthrogryposis, Distal, Type 4	Torticollis, 2-5 finger cutaneous syndactyly, Kyphosis, Camptodactyly of 2nd-5th fingers, Lumbar ...	OMIM:609128
Ehlers-Danlos Syndrome, Classic-Like	Proximal amyotrophy, Proximal muscle weakness, Muscle fiber splitting	OMIM:606408
Oxoglutaric Aciduria	Skeletal muscle atrophy, Hypertonia, Short stature, Ataxia	ORPHA:31
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular tachycardia, Palpitations, Left ventri...	OMIM:613873
Infant Acute Respiratory Distress Syndrome	Tachycardia, Pneumonia, Cardiac arrest, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure,...	ORPHA:70587
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Arachnodactyly, Kyphosis, Gait disturbance, Scoliosis, Hemiplegia, Adducted thumb	ORPHA:2181
Alternating Hemiplegia Of Childhood	Respiratory distress, Facial hypotonia, Apnea, Cardiac conduction abnormality, Ataxia, Aspiration...	ORPHA:2131
Pseudohypoaldosteronism Type 2	Growth delay, Short stature, Muscle weakness, Periodic paralysis	ORPHA:757
Allergic Bronchopulmonary Aspergillosis	Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, Cough, Pulmonary arterial hyperte...	ORPHA:1164
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Myopathy, Rhabdomyolysis, Muscle weakness	ORPHA:228305
Gitelman Syndrome	Ataxia, Paralysis, Rhabdomyolysis, Generalized muscle weakness, Growth delay, Delayed puberty, Fa...	OMIM:263800
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Short stature, Camptodactyly of finger, Short neck, Kyphosis, Obesity, Short foot...	ORPHA:3409
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Kyphosis, Disproportio...	OMIM:313400
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Bulbar palsy, Apnea, Rocker bottom foot, Postaxial polydactyly, Rig...	OMIM:617527
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Dyspnea, Abnormality on pulmonary function testing, Abnormal ...	ORPHA:133
Combined Oxidative Phosphorylation Deficiency 12	Poor head control, Spastic tetraparesis, Ophthalmoplegia, Babinski sign, Ragged-red muscle fibers...	OMIM:614924
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Tricuspid regurgitation, Short femur, Pneumothorax, Talipes equinovarus, Sh...	OMIM:620306
Seckel Syndrome	Short stature, Sandal gap, Cachexia, Scoliosis, Clinodactyly of the 5th finger, Intrauterine grow...	ORPHA:808
Primary Triglyceride Deposit Cardiomyovasculopathy	Angina pectoris, Dyspnea, Increased muscle lipid content, Abnormality of the calf musculature, Ca...	ORPHA:565612
Osteogenesis Imperfecta, Type X	Respiratory distress, Thoracic scoliosis, Short femur, Short stature, Rhizomelia, Micromelia, Bow...	OMIM:613848
Caribbean Parkinsonism	Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, Progressive...	ORPHA:97355
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress, Rocker bottom foot, Adducted thumb	ORPHA:89844
Autosomal Recessive Spastic Paraplegia Type 35	Lower limb spasticity, Spastic tetraparesis, Kyphosis, Ophthalmoplegia, Babinski sign, Spastic pa...	ORPHA:171629
Aortic Arch Interruption	Aortic regurgitation, Shock, Respiratory distress, Tricuspid regurgitation, Blood pressure substa...	ORPHA:2299
Ruvalcaba Syndrome	Short palm, Short metacarpal, Short stature, Micromelia, Kyphosis, Short metatarsal, Small hand, ...	OMIM:180870
Autosomal Recessive Spastic Paraplegia Type 11	Ataxia, Parkinsonism, Overweight, Inability to walk, Paraparesis, Generalized limb muscle atrophy...	ORPHA:2822
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Skeletal muscle atrophy, Short stature, Arachnodactyly, Kyphoscoliosis, Wide d...	OMIM:614856
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Skeletal muscle atrophy, Unilateral cryptorchidism	OMIM:618862
Achondroplasia	Brachydactyly, Lumbar hyperlordosis, Rhizomelia, Bowing of the legs, Short proximal phalanx of fi...	ORPHA:15
Adenylosuccinase Deficiency	Skeletal muscle atrophy, Inability to walk, Opisthotonus, Growth delay, Gait ataxia, Myoclonus, H...	OMIM:103050
Early-Onset Autosomal Dominant Alzheimer Disease	Ataxia, Parkinsonism, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia, Deposits immunoreactive...	ORPHA:1020
Sting-Associated Vasculopathy, Infantile-Onset	Skeletal muscle atrophy, Myositis, Raynaud phenomenon, Tachypnea, Telangiectasia, Failure to thrive	OMIM:615934
Lethal Congenital Contracture Syndrome 10	Torticollis, Increased variability in muscle fiber diameter, Femoral bowing, Macroglossia, Talipe...	OMIM:617022
Perry Syndrome	Central hypoventilation, Parkinsonism, Tremor, Weight loss, Abnormality of extrapyramidal motor f...	ORPHA:178509
Camurati-Engelmann Disease	Waddling gait, Skeletal muscle atrophy, Diaphyseal sclerosis, Genu valgum, Cortical thickening of...	OMIM:131300
4Q21 Microdeletion Syndrome	Toe syndactyly, Micromelia, Short neck, Tremor, Kyphosis, Small hand, Growth delay, Short foot, S...	ORPHA:238750
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hip contracture, Hypoventilation, Short stature, Inability to walk, Kyphosis, Unsteady gait, Elbo...	OMIM:618493
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Infertility, Ciliary dyskinesia	OMIM:606763
Weismann-Netter Syndrome	Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h...	ORPHA:3344
Combined Oxidative Phosphorylation Deficiency 53	Death in infancy, Short stature, Generalized amyotrophy, Death in childhood, Spasticity, Failure ...	OMIM:619423
Becker Nevus Syndrome	Micromelia, Kyphosis, Abnormal tibia morphology, Scoliosis, Spina bifida occulta, Shoulder girdle...	ORPHA:64755
Wolfram Syndrome	Central apnea, Ataxia, Ophthalmoplegia, Respiratory insufficiency, Myopathy, Delayed puberty	ORPHA:3463
Neurodegeneration With Brain Iron Accumulation 4	Scapular winging, Distal muscle weakness, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal p...	OMIM:614298
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Myositis, Failure to thrive in infancy, Pneumonia, Cachexia, Interstitial p...	ORPHA:37042
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Syndactyly, Postaxial polydactyly, Micromelia, Hypoplasia of the radius, Re...	OMIM:617895
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Thoracic kyphoscoliosis, Thoracic scoliosis, Decreased muscle mass, Recurrent pneumonia, Elbow fl...	ORPHA:1900
Weismann-Netter Syndrome	Severe short stature, Anterior tibial bowing, Kyphosis, Lateral femoral bowing, Horizontal sacrum...	OMIM:112350
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Cachexia, Spasticity, Short stature, Ataxia	ORPHA:220295
Choreoacanthocytosis	Resting tremor, Self-mutilation of tongue and lips due to involuntary movements, Muscle fiber atr...	ORPHA:2388
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Poor head control, Spastic tetraparesis, Paralysis, Chorea, Abnorma...	OMIM:272750
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Facial palsy, Congestive ...	ORPHA:31826
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly, Short stature	ORPHA:2786
Hemifacial Atrophy, Progressive	Kyphosis, Ataxia	OMIM:141300
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Skeletal muscle atrophy, Ataxia, Short stature, Postural tremor, Limb joint contracture, Tapered ...	OMIM:301072
Congenital Laryngeal Web	Respiratory distress, Stridor, Short stature	ORPHA:2374
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Kyphosis, Abnormal ossification involving the f...	ORPHA:2114
Cockayne Syndrome Type 2	Lower limb spasticity, Ataxia, Kyphosis, Flexion contracture, Gait disturbance, Scoliosis, Diffic...	ORPHA:90322
Congenital Myopathy 17	Overlapping fingers, Failure to thrive in infancy, Overlapping toe, Tapered finger, Respiratory i...	OMIM:618975
Foodborne Botulism	Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Diaphragmatic paraly...	ORPHA:228371
Lethal Congenital Contracture Syndrome Type 1	Skeletal muscle atrophy, Short stature, Abnormal form of the vertebral bodies, Short neck	ORPHA:1486
Marfan Syndrome	Skeletal muscle atrophy, Spontaneous pneumothorax, Arachnodactyly, Cachexia, Kyphosis, Scoliosis,...	ORPHA:558
Tularemia	Respiratory distress, Tachycardia, Pneumonia, Cough, Pleural effusion	ORPHA:3392
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Short stature, Thoracolumbar scoliosis, Ataxia, Hyperlordosis, Kyphosis, Inability to walk, Unste...	OMIM:618443
Desmoplastic Small Round Cell Tumor	Cachexia, Weight loss	ORPHA:83469
Combined Oxidative Phosphorylation Deficiency 33	Left ventricular hypertrophy, Intrauterine growth retardation, Myopathy, Progressive external oph...	OMIM:617713
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Ataxia, Apnea, Hypopnea, H...	OMIM:618426
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Chitayat Syndrome	Hallux valgus, Respiratory distress, Tracheomalacia, Brachydactyly	OMIM:617180
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Exaggerated startle response, Bulbar palsy, Apnea, Rocke...	ORPHA:521426
Kyphoscoliotic Ehlers-Danlos Syndrome	Skeletal muscle atrophy, Congenital kyphoscoliosis, Short stature, Arachnodactyly, Kyphoscoliosis...	ORPHA:536545
Mucopolysaccharidosis, Type Vii	Anterior beaking of lower thoracic vertebrae, Severe short stature, Short stature, Diastasis rect...	OMIM:253220
Pneumocystosis	Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins...	ORPHA:723
Microlissencephaly-Micromelia Syndrome	Respiratory distress, Micromelia, Short neck, Hypertonia, Failure to thrive, Adducted thumb	ORPHA:50810
Mitochondrial Complex I Deficiency, Nuclear Type 32	Skeletal muscle atrophy, Respiratory failure, Failure to thrive, Small for gestational age	OMIM:618252
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Short stature, Kyphosis, Scoliosis, Short distal phalanx of finger, Brachydactyly	ORPHA:1858
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Neonatal asphyxia, Vocal cord paralysis, Bronchiectasis, Congenital laryngeal stridor	ORPHA:2375
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Skeletal muscle atrophy, Proximal muscle weakness, Congestive heart failure, Dilated cardiomyopat...	OMIM:615895
Alexander Disease	Ataxia, Clonus, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Tremor, Chorea, Abnormal pyram...	ORPHA:58
3P25.3 Microdeletion Syndrome	Skeletal muscle atrophy, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered fing...	ORPHA:435638
O'Donnell-Luria-Rodan Syndrome	Kyphosis, Tapered finger	OMIM:618512
Acth-Independent Macronodular Adrenal Hyperplasia	Skeletal muscle atrophy, Hypertension, Truncal obesity	OMIM:219080
Familial Nasal Acilia	Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis	ORPHA:922
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Short stature, Kyphosis, Flexion contracture, Abnormal form of the vertebral bod...	ORPHA:3042
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Apnea, Kyphosis, Scoliosis, Dislocation of the femoral head	OMIM:619797
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Tachycardia, Tricuspid regurgitation, Congestive heart failure, Inability t...	ORPHA:505248
Galactose Epimerase Deficiency	Growth delay, Weight loss	ORPHA:79238
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome	Distal amyotrophy, Spastic gait	ORPHA:2821
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Abnormal capillary physiology, Upper airway obstruction	ORPHA:100057
Werner Syndrome	Skeletal muscle atrophy, Telangiectasia of the skin, Rocker bottom foot, Myocardial infarction, C...	ORPHA:902
Subaortic Stenosis-Short Stature Syndrome	Short stature, Short neck, Kyphosis, Obesity, Respiratory insufficiency, Scoliosis, Synostosis of...	ORPHA:3191
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Short stature, Hyperlordosis, Kyphosis, Short toe, Obesity, Brachydactyly	ORPHA:3085
Glycerol Kinase Deficiency	Short stature, Small for gestational age, Growth delay, Myopathy, Muscular dystrophy, Lethargy	OMIM:307030
Tetanus	Respiratory distress, Tremor, Rigidity, Tachypnea, Opisthotonus, Hypertonia, Spasticity of pharyn...	ORPHA:3299
Bacterial Toxic-Shock Syndrome	Shock, Respiratory distress, Myositis, Tachycardia, Sinusitis, Pneumonia, Myocarditis, Tachypnea,...	ORPHA:36234
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Congenital muscular torticollis, Short stature, Kyphosis, Postaxial hand polyda...	ORPHA:2916
Acute Myelomonocytic Leukemia	Dyspnea, Weight loss	ORPHA:517
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Distal muscle weakness, Tremor, Chorea, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progre...	OMIM:606002
Cryptococcosis	Respiratory distress, Pneumonia, Dyspnea, Ophthalmoplegia, Pleural effusion, Cough, Limb muscle w...	ORPHA:1546
Mucopolysaccharidosis Type 6	Sinusitis, Ovoid vertebral bodies, Short neck, Kyphosis, Disproportionate short-trunk short statu...	ORPHA:583
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Skeletal muscle hypertrophy, Macroglossia, Congenital contracture, Muscular dystrophy, Increased ...	OMIM:613150
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Increased intervertebral space, Opisthotonus, Hypertonia, Abnormality of the cervical spine, Shor...	ORPHA:508533
Multiple Endocrine Neoplasia, Type Iib	Failure to thrive in infancy, Hyperlordosis, Kyphosis, Myopathy, Scoliosis, Proximal femoral epip...	OMIM:162300
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Lower limb spasticity, Clonus, Babinski sign, Spastic paraplegia, Distal amyotrophy, Spastic gait	OMIM:256840
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Generalized muscle weakness, Hand tremor, Periodic paralysis	OMIM:609153
Microcephalic Primordial Dwarfism, Montreal Type	Severe short stature, Kyphosis, Vertebral segmentation defect, Hypertonia, Scoliosis	ORPHA:2617
Frontometaphyseal Dysplasia 1	Carpal synostosis, Skeletal muscle atrophy, Knee flexion contracture, Increased density of long b...	OMIM:305620
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Hereditary Late-Onset Parkinson Disease	Resting tremor, Parkinsonism, Akinesia, Rigidity, Weight loss, Bradykinesia, Shuffling gait, Park...	ORPHA:411602
Radio-Renal Syndrome	Respiratory distress, Severe short stature, Micromelia, Short neck, Dyspnea, Hypoplasia of the ra...	ORPHA:3015
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Facial hypotonia, Involuntary movements, Chorea, Small hand, Dysmetria, Int...	OMIM:615273
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Sandal gap, Postaxial polydactyly, Hyperlordosis, Kyphosis, Scoliosis, Broad dista...	OMIM:615761
Rhizomelic Syndrome, Urbach Type	Brachydactyly, Rhizomelia, Short stature, Short neck, Abnormality of the humerus, Kyphosis, Preax...	ORPHA:3098
Mucolipidosis Iii Gamma	Short stature, Hyperlordosis, Short neck, Kyphosis, Flat capital femoral epiphysis, Genu valgum, ...	OMIM:252605
Trisomy 17P	Skeletal muscle atrophy, Short stature, Short neck, Tapered finger, Flexion contracture, Growth d...	ORPHA:261290
Rhabdoid Tumor	Cerebral palsy, Oculomotor nerve palsy, Respiratory insufficiency, Weight loss, Hemiplegia	ORPHA:69077
Arnold-Chiari Malformation Type I	Abnormality of the musculature of the lower limbs, Babinski sign, Vocal cord paralysis, Gait atax...	ORPHA:268882
7Q31 Microdeletion Syndrome	Speech apraxia, Skeletal muscle atrophy, Torticollis, Postnatal growth retardation, Asthma, Clino...	ORPHA:251061
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Mitral regurgitation, Postaxial polydactyly, Knee flexion contracture	OMIM:603387
Marden-Walker Syndrome	Decreased muscle mass, Arachnodactyly, Short neck, Postnatal growth retardation, Kyphosis, Congen...	OMIM:248700
Pontocerebellar Hypoplasia, Type 17	Kyphosis, Spastic tetraplegia, Respiratory insufficiency, Intrauterine growth retardation, Limb h...	OMIM:619909
Classic Hodgkin Lymphoma	Weight loss, Ataxia, Respiratory insufficiency, Cough	ORPHA:391
Meier-Gorlin Syndrome 1	Respiratory distress, Flexion contracture, Hemivertebrae, Cutaneous finger syndactyly, Short palm...	OMIM:224690
Dilated Cardiomyopathy With Ataxia	Prolonged QT interval, Ataxia, Bilateral cryptorchidism, Dilated cardiomyopathy, Generalized amyo...	ORPHA:66634
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Short stature, Camptodactyly of finger, Arachnodactyly, Kyphosis, Joint contracture of the 5th fi...	ORPHA:1883
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Skeletal muscle atrophy, Flexion contracture, Dilated cardiomyopathy, Respiratory insufficiency, ...	OMIM:253800
Primary Myelofibrosis	Cachexia	ORPHA:824
Thanatophoric Dysplasia	Micromelia, Abnormal sacroiliac joint morphology, Kyphosis, Respiratory insufficiency, Platyspond...	ORPHA:2655
Arterial Tortuosity Syndrome	Respiratory distress, Arachnodactyly, Rocker bottom foot, Myocardial infarction, Coxa valga, Avas...	ORPHA:3342
Campomelic Dysplasia	Respiratory distress, Thoracic scoliosis, Apnea, Cervical kyphosis, Anterior tibial bowing, Patel...	OMIM:114290
Multiple Pterygium-Malignant Hyperthermia Syndrome	Congenital muscular torticollis, Skeletal muscle atrophy, Severe short stature, Finger syndactyly...	ORPHA:2215
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn...	OMIM:265000
12Q14 Microdeletion Syndrome	Skeletal muscle atrophy, Short stature, Tremor, Scoliosis, Clinodactyly of the 5th finger, Intrau...	ORPHA:94063
Mucopolysaccharidosis, Type Ivb	Ataxia, Ovoid vertebral bodies, Hyperlordosis, Coxa valga, Hypoplasia of the odontoid process, Ky...	OMIM:253010
Hypomelanosis Of Ito	Syndactyly, Kyphosis, Hand polydactyly, Radial deviation of finger, Scoliosis, Clinodactyly	OMIM:300337
Pituitary Adenoma 4, Acth-Secreting	Skeletal muscle atrophy, Obesity, Hypertension, Abdominal obesity, Oligomenorrhea	OMIM:219090
Fucosidosis	Decreased muscle mass, Kyphosis, Abnormal pyramidal sign, Spastic tetraplegia, Anterior beaking o...	ORPHA:349
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Ataxia, Truncal titubation, Kyphosis, Gait ataxia, Gait disturbance, Scoliosis, Camptodactyly, Fl...	ORPHA:88628
Kleefstra Syndrome 2	Growth delay, Kyphosis, Scoliosis	OMIM:617768
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Syndactyly, Neonatal respiratory distress, Proximal placement of thumb, Cry...	OMIM:217980
Erythrokeratodermia Variabilis	Tapered finger, Brachydactyly, Short stature, Weight loss	ORPHA:317
Idiopathic Chronic Eosinophilic Pneumonia	Crackles, Dyspnea, Nonproductive cough, Wheezing, Asthma, Weight loss, Hypoxemia, Restrictive ven...	ORPHA:2902
Hurler-Scheie Syndrome	Short stature, Camptodactyly of finger, Thenar muscle atrophy, Kyphosis, Contracture of the dista...	OMIM:607015
Central Diabetes Insipidus	Lethargy, Failure to thrive, Weight loss	ORPHA:178029
Slc35A1-Cdg	Respiratory distress, Hypoxemia, Pneumonia, Pulmonary hemorrhage	ORPHA:238459
Alpha-Mannosidosis	Bowing of the long bones, Short neck, Kyphosis, Macroglossia, Scoliosis	ORPHA:61
Choanal Atresia	Respiratory distress, Upper airway obstruction, Polydactyly, Tracheomalacia, Chronic sinusitis, A...	ORPHA:137914
Esophageal Atresia	Respiratory distress, Small for gestational age, Failure to thrive in infancy, Laryngotracheomala...	ORPHA:1199
Moebius Syndrome	Skeletal muscle atrophy, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Facia...	ORPHA:570
Localized Scleroderma	Skeletal muscle atrophy, Flexion contracture, Abnormality on pulmonary function testing, Myopathy...	ORPHA:90289
Osteoglophonic Dysplasia	Respiratory distress, Short metacarpal, Bowing of the long bones, Rhizomelia, Camptodactyly of fi...	OMIM:166250
Carnitine Palmitoyltransferase Ii Deficiency	Myopathy, Neonatal respiratory distress, Rhabdomyolysis, Muscle weakness	ORPHA:157
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Conjunctival telangiectasia, Gait ataxia, Proximal amyotrophy, Progressive cerebellar ataxia, Dif...	ORPHA:95433
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Hemiplegia, Brachydactyly, Cachexia, Short palm	ORPHA:3217
Autosomal Recessive Multiple Pterygium Syndrome	Skeletal muscle atrophy, Finger syndactyly, Neonatal respiratory distress, Camptodactyly of finge...	ORPHA:2990
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Lethargy, Failure to thrive	OMIM:251000
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Kyphosis, Arachnodactyly, Scoliosis	ORPHA:1548
Hemorrhagic Fever-Renal Syndrome	Shock, Respiratory distress, Tachycardia, Epistaxis, Pneumonia, Hematemesis, Cough, Dyspnea, Capi...	ORPHA:340
Alpha-Mannosidosis, Infantile Form	Ataxia, Facial hypotonia, Pneumonia, Short neck, Spastic paraplegia, Clumsiness, Genu valgum, Mac...	ORPHA:309282
Thyroid Lymphoma	Respiratory distress, Dyspnea, Stridor, Upper airway obstruction	ORPHA:97285
Hereditary Folate Malabsorption	Skeletal muscle atrophy, Failure to thrive	ORPHA:90045
Scimitar Syndrome	Respiratory distress, Left-to-right shunt, Abnormal hemidiaphragm morphology, Heart block, Conges...	ORPHA:185
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Polydactyly, Aspiration pneumonia	ORPHA:314655
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing, Rhizomelia, Thorac...	OMIM:618019
Combined Immunodeficiency Due To Crac Channel Dysfunction	Myopathy	ORPHA:169090
Andersen-Tawil Syndrome	Periodic hyperkalemic paralysis, Short stature, Periodic paralysis, Small hand, 2-3 toe syndactyl...	ORPHA:37553
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat...	OMIM:271700
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Death in infancy, Neonatal respiratory distress, Arachnodactyly, Type 1 muscle fiber atrophy, Typ...	OMIM:619036
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Short stature, Overweight, Kyphosis, Asthma, Flexion contracture, Small hand, Short foot, Gait di...	ORPHA:500055
Emanuel Syndrome	Sacral dimple, Torticollis, Congenital diaphragmatic hernia, Kyphosis, Scoliosis, Recurrent sinus...	OMIM:609029
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Weight loss, Hypoxem...	ORPHA:90060
Congenital Heart Defects And Skeletal Malformations Syndrome	Short stature, Repeated pneumothoraces, Congenital diaphragmatic hernia, Arachnodactyly, Sandal g...	OMIM:617602
Cerebral Cavernous Malformations 3	Paralysis	OMIM:603285
Inhalational Botulism	Dyspnea, Muscle weakness, Paralysis	ORPHA:254504
Frank-Ter Haar Syndrome	Camptodactyly of finger, Kyphosis, Scoliosis, Abnormal metacarpal morphology, Clinodactyly of the...	ORPHA:137834
Gitelman Syndrome	Prolonged QT interval, Respiratory distress, Raynaud phenomenon, Rhabdomyolysis, Low-to-normal bl...	ORPHA:358
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup...	ORPHA:99103
Usher Syndrome	Myopathy, Ataxia	ORPHA:886
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Congenital diaphragmatic hernia, Short neck, Kyphosis,...	ORPHA:958
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Skeletal muscle atrophy, Short stature, Short neck, Babinski sign, Hypertonia, Spasticity, Failur...	OMIM:615802
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Skeletal muscle atrophy, Cerebral palsy, Opisthotonus, Lethargy, Failure to thrive	OMIM:210210
Insulin Autoimmune Syndrome	Weight loss	ORPHA:411593
Andersen Cardiodysrhythmic Periodic Paralysis	Scapular winging, Short metacarpal, Short stature, Toe syndactyly, Periodic paralysis, Short meta...	OMIM:170390
Eisenmenger Syndrome	Respiratory distress, Ventricular tachycardia, Supraventricular tachycardia, Tricuspid regurgitat...	ORPHA:97214
3M Syndrome	Hypoplasia of the ulna, Scapular winging, Short stature, Rocker bottom foot, Micromelia, Hyperlor...	ORPHA:2616
Congenital Disorder Of Glycosylation, Type Iie	Skeletal muscle atrophy, Congestive heart failure, Neonatal asphyxia, Respiratory insufficiency, ...	OMIM:608779
8P23.1 Microdeletion Syndrome	Broad hallux phalanx, Short stature, Congenital diaphragmatic hernia, Short neck, Proximal placem...	ORPHA:251071
Alveolar Echinococcosis	Low back pain, Ataxia, Dyspnea, Abnormal skeletal muscle morphology, Hemiparesis, Weight loss, Ab...	ORPHA:284
Osteogenesis Imperfecta, Type Ix	Kyphosis, Platyspondyly, Disproportionate short-limb short stature, Scoliosis, Short lower limbs	OMIM:259440
Brachyolmia Type 3	Short neck, Kyphosis, Childhood-onset short-trunk short stature, Proximal femoral metaphyseal irr...	OMIM:113500
Mogs-Cdg	Respiratory distress, Hypoventilation, Apnea, Hydrocele testis, Left ventricular hypertrophy, Ove...	ORPHA:79330
Tick-Borne Encephalitis	Back pain, Speech apraxia, Skeletal muscle atrophy, Incoordination, Facial palsy, Paralysis, Trem...	ORPHA:297
Graft Versus Host Disease	Skeletal muscle atrophy, Myositis, Tachycardia, Dupuytren contracture, Pneumonia, Failure to thrive	ORPHA:39812
Stüve-Wiedemann Syndrome	Respiratory distress, Sacral dimple, Bowing of the long bones, Short stature, Camptodactyly of fi...	ORPHA:3206
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Tachycardia, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Ap...	ORPHA:348
Mucopolysaccharidosis Type 4	Bowing of the long bones, Short stature, Hyperlordosis, Short neck, Kyphosis, Coxa valga, Spinal ...	ORPHA:582
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Clubbing of toes, Weight loss	ORPHA:2198
Inhalational Anthrax	Respiratory distress, Dyspnea, Internal hemorrhage, Hypotension	ORPHA:247257
Eosinophilic Fasciitis	Myositis, Muscular edema, Weight loss	ORPHA:3165
Thanatophoric Dysplasia Type 2	Short stature, Micromelia, Kyphosis, Respiratory insufficiency, Platyspondyly, Abnormal metaphysi...	ORPHA:93274
Donohue Syndrome	Severe failure to thrive, Skeletal muscle atrophy, Large hands	OMIM:246200
Pfeiffer Syndrome Type 2	Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall...	ORPHA:93259
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo...	ORPHA:75565
Clark-Baraitser syndrome	Tapered finger, Kyphosis, Obesity, Genu valgum, Scoliosis, Short palm	OMIM:300602
Hereditary Xanthinuria	Myopathy	ORPHA:3467
Chromosome 6Q24-Q25 Deletion Syndrome	Persistent fetal circulation, Respiratory distress, Tricuspid regurgitation, Sandal gap, Small ha...	OMIM:612863
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Micromelia, Proximal placement of thumb, Kyphosis, Small hand, S...	ORPHA:3121
Multiple System Atrophy 1, Susceptibility To	Skeletal muscle atrophy, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia	OMIM:146500
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Failure to thrive, Tricuspid regurgitation, Congenital diaphragmatic hernia...	ORPHA:2556
Congenital Tracheomalacia	Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn...	ORPHA:95430
Takayasu Arteritis	Pulmonary arterial hypertension, Abnormal pattern of respiration, Muscle weakness, Weight loss	ORPHA:3287
Walker-Warburg Syndrome	Skeletal muscle atrophy, Cryptorchidism, Muscular dystrophy, Metatarsus valgus, Aplasia/Hypoplasi...	ORPHA:899
Glioblastoma	Muscle weakness, Paralysis	ORPHA:360
Hypercalcemia, Infantile, 1	Lethargy, Failure to thrive, Weight loss	OMIM:143880
Proteasome-Associated Autoinflammatory Syndrome 4	Skeletal muscle atrophy, Myositis, Flexion contracture	OMIM:619183
19P13.12 Microdeletion Syndrome	Finger syndactyly, Toe clinodactyly, Sandal gap, Short neck, Kyphosis, Obesity, Scoliosis, Short ...	ORPHA:254346
Hereditary Amyloidosis With Primary Renal Involvement	Myopathy, Weight loss	ORPHA:85450
Prader-Willi Syndrome	Short palm, Hypoventilation, Decreased muscle mass, Syndactyly, Short stature, Failure to thrive ...	OMIM:176270
2P15P16.1 Microdeletion Syndrome	Lower limb spasticity, Sandal gap, Facial palsy, Camptodactyly of finger, Tapered finger, Metatar...	ORPHA:261349
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Incoordination, Ataxia, Clonus, Involuntary movements, Acute rhabdomyolysis, Babinski sign, Hyper...	ORPHA:480864
Q Fever	Respiratory distress, Pericarditis, Pneumonia, Myocarditis, Vasculitis, Weight loss, Abnormal lef...	ORPHA:781
Mucopolysaccharidosis, Type Ii	Severe short stature, Short stature, Short neck, Kyphosis, Asthma, Flexion contracture, Recurrent...	OMIM:309900
Proteus Syndrome	Hallux valgus, Finger syndactyly, Decreased muscle mass, Macrodactyly, Cachexia, Pulmonary emboli...	ORPHA:744
Sézary Syndrome	Skeletal muscle atrophy	ORPHA:3162
Microsporidiosis	Myositis, Sinusitis, Pneumonia, Cachexia, Weight loss, Rhinitis	ORPHA:2552
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Broad hallux phalanx, Toe syndactyly, Short stature, Short neck, Metatarsus valgus, Kyphosis, Pos...	ORPHA:3082
Lymphoid Interstitial Pneumonia	Crackles, Dyspnea, Wheezing, Clubbing, Bronchiectasis, Weight loss, Hypoxemia, Restrictive ventil...	ORPHA:79128
Weaver Syndrome	Short fourth metatarsal, Calcaneovalgus deformity, Hypertonia, Prominent fingertip pads, Large ha...	OMIM:277590
Fatal Familial Insomnia	Apnea, Ataxia, Myoclonus, Weight loss	OMIM:600072
Normokalemic Periodic Paralysis	Periodic paralysis	OMIM:170600
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Acroosteolysis of distal phalanges (feet), Proximal upper limb muscle hypertrophy, Osteolytic def...	ORPHA:280365
Hypoglossia With Situs Inversus	Respiratory distress, Upper airway obstruction	OMIM:612776
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Cryptorchidism, Postaxial hand polydactyly, Pulmonary arterial hypertension	ORPHA:2519
Genitopalatocardiac Syndrome	Congenital diaphragmatic hernia, Kyphosis, Postaxial hand polydactyly, Scoliosis, Intrauterine gr...	ORPHA:2075
Listeriosis	Back pain, Respiratory distress, Ataxia, Miscarriage, Pneumonia, Tremor, Rhabdomyolysis, Hemipare...	ORPHA:533
Symptomatic Form Of Hfe-Related Hemochromatosis	Abnormal metacarpophalangeal joint morphology, Decreased muscle mass, Weight loss, Lethargy, Musc...	ORPHA:465508
Immunodeficiency 31C	Skeletal muscle atrophy, Bronchiectasis, Weight loss, Cough, Muscle weakness	OMIM:614162
Arboleda-Tham Syndrome	Respiratory distress, Brachydactyly, Neonatal respiratory distress, Sandal gap, Deviation of the ...	OMIM:616268
Dysostosis, Stanescu Type	Bowing of the long bones, Short stature, Micromelia, Hyperlordosis, Short neck, Kyphosis, Macrogl...	ORPHA:1798
Lysinuric Protein Intolerance	Skeletal muscle atrophy, Respiratory insufficiency, Truncal obesity, Failure to thrive, Muscle we...	OMIM:222700
Mucolipidosis Type Ii	Hip contracture, Respiratory failure requiring assisted ventilation, Short stature, Diastasis rec...	ORPHA:576
Pycnodysostosis	Brachydactyly, Rhizomelia, Hyperlordosis, Overweight, Kyphosis, Small hand, Stridor, Mesomelia, S...	ORPHA:763
Methylmalonic Aciduria, Cbla Type	Tremor, Lethargy, Failure to thrive, Respiratory distress	OMIM:251100
Thymoma	Myositis, Dyspnea, Weight loss, Cough, Muscle weakness	ORPHA:99867
Lujo Hemorrhagic Fever	Shock, Respiratory distress, Crackles, Myocarditis, Nonproductive cough, Subconjunctival hemorrha...	ORPHA:319213
Aicardi-Goutieres Syndrome 9	Spastic tetraparesis, Spastic tetraplegia, Spastic diplegia, Weight loss, Lower limb hypertonia, ...	OMIM:619487
Sepsis In Premature Infants	Tachycardia, Small for gestational age, Abnormal mucociliary clearance, Dyspnea, Nasal flaring, A...	ORPHA:90051
Acquired Hypertrichosis Lanuginosa	Macroglossia, Weight loss	ORPHA:2221
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Kyphosis, Slender build, Scoliosis	OMIM:300676
Congenital Disorder Of Glycosylation, Type Ia	Death in infancy, Ataxia, Tremor, Kyphosis, Flexion contracture, Dysmetria, Death in childhood, F...	OMIM:212065
Lynch Syndrome	Death in infancy, Death in early adulthood, Hemiplegia/hemiparesis, Flexion contracture, Abnormal...	ORPHA:144
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Sinusitis, Hemiplegia/hemiparesis, Asthma, Respiratory insufficiency, Weight loss, Gait...	ORPHA:183
Pfeiffer Syndrome Type 3	Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall...	ORPHA:93260
Hirschsprung Disease	Adducted thumb, Short stature, Failure to thrive in infancy, Weight loss	ORPHA:388
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Ataxia, Rigidity, Kyphosis, Metaphyseal widening, Spastic tetraplegia, ...	OMIM:618476
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Abnormal sacroiliac joint morphology, Kyphosis...	ORPHA:1860
Intellectual Developmental Disorder, Autosomal Dominant 57	Brachydactyly, Short stature, Kyphosis, Contracture of the proximal interphalangeal joint of the ...	OMIM:618050
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Weight loss, Periodic paralysis	OMIM:613239
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Brachydactyly, Severe short stature, Kyphosis, Moderate postnatal growth retar...	ORPHA:1005
Myopathy, Centronuclear, X-Linked	Respiratory failure requiring assisted ventilation, Neonatal respiratory distress, Arachnodactyly...	OMIM:310400
Mgat2-Cdg	Respiratory distress, Reflex asystolic syncope, Arrhythmia, Failure to thrive, Brachydactyly	ORPHA:79329
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Scapular winging, Sandal gap, Tapered finger, Tremor, Kyphosis, 2-3 toe syndactyly, Scoliosis, Cl...	OMIM:617061
Fountain Syndrome	Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Short stature, Kyphos...	ORPHA:3219
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Respiratory insufficiency, Growth delay, Myopathy, Pulmonary arterial hypertension, Clinodactyly,...	OMIM:612541
Methylmalonic Aciduria, Cblb Type	Respiratory distress, Lethargy, Failure to thrive	OMIM:251110
Intellectual Developmental Disorder, Autosomal Dominant 54	Lower limb spasticity, Poor head control, Short stature, Ataxia, Apnea, Small for gestational age...	OMIM:617799
Gm1-Gangliosidosis, Type I	Death in infancy, Severe short stature, Short neck, Kyphosis, Hypoplastic vertebral bodies, Hyper...	OMIM:230500
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the thumb, Short stature, Preaxial hand polydactyly, Triphalangeal thumb, E...	ORPHA:2549
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Sacral dimple, Ataxia, Short neck, Postnatal growth retardation, Kyphosis, Tremor, Talipes cavus ...	OMIM:300966
Malignant Hyperthermia Of Anesthesia	Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, Hypercapnia, Abnormality of masseter muscl...	ORPHA:423
Foxg1 Syndrome Due To 14Q12 Microdeletion	Growth delay, Kyphosis, Macroglossia, Scoliosis	ORPHA:261144
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Weight loss	ORPHA:86893
Multiple Acyl-Coa Dehydrogenase Deficiency	Neonatal death, Respiratory distress, Muscle weakness	OMIM:231680
Nasolacrimal Duct Cyst	Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre...	ORPHA:141083
Leptospirosis	Respiratory distress, Pericarditis, First degree atrioventricular block, Rhabdomyolysis, Retinal ...	ORPHA:509
Acquired Generalized Lipodystrophy	Myopathy, Calf muscle pseudohypertrophy	ORPHA:79086
Shashi-Pena Syndrome	Short metacarpal, Kyphosis, Scoliosis, Cervical C2/C3 vertebral fusion, Intrauterine growth retar...	OMIM:617190
Peripheral Primitive Neuroectodermal Tumor	Back pain, Abnormal thoracic spine morphology, Torticollis, Weight loss, Lower limb muscle weakness	ORPHA:370348
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress, Sacral dimple, Short stature, Postaxial polydactyly, Tapered finger, Small ...	OMIM:300968
Alg1-Cdg	Kyphosis, Respiratory failure, Scoliosis	ORPHA:79327
Stromme Syndrome	Myopathy, Stillbirth, Preaxial polydactyly	OMIM:243605
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, Tapered finger, Postnatal growth retardation, Kyphosis, Clinodactyly, Coxa valga,...	OMIM:301040
Ear-Patella-Short Stature Syndrome	Respiratory distress, Camptodactyly of finger, Cryptorchidism, Dyspnea, Patellar aplasia, Respira...	ORPHA:2554
Immunodeficiency 27A	Abnormal bronchus physiology, Hypoplasia of the femoral head, Pneumonia, Weight loss	OMIM:209950
3C Syndrome	Death in infancy, Finger syndactyly, Short stature, Short neck, Postnatal growth retardation, Kyp...	ORPHA:7
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Small for gestational age, Congenital diaphragmatic hernia, Pulmonic stenos...	ORPHA:2255
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Short stature, Overlapping toe, Short neck, Small hand, Obesity, Short foot...	ORPHA:177907
Microform Holoprosencephaly	Short stature, Asthma, Scoliosis, Intrauterine growth retardation, EMG: myopathic abnormalities	ORPHA:280200
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Short stature, Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae	ORPHA:2522
1P36 Deletion Syndrome	Short stature, Camptodactyly of finger, Kyphosis, Hemiplegia/hemiparesis, Spinal canal stenosis, ...	ORPHA:1606
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Death in infancy, Intrauterine growth retardation, Failure to thrive, Lethargy	OMIM:617156
Restrictive Dermopathy 2	Respiratory distress, Intrauterine growth retardation	OMIM:619793
Congenital Enterovirus Infection	Respiratory distress, Myocarditis, Cardiomyopathy, Hypotension, Pleural effusion	ORPHA:292
Osteogenesis Imperfecta, Type Iii	Kyphosis, Tibial bowing, Disproportionate short-limb short stature, Scoliosis, Pulmonary arterial...	OMIM:259420
Rheumatoid Arthritis	Digital flexor tenosynovitis, Interphalangeal joint erosions, Swan neck-like deformities of the f...	OMIM:180300
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Ataxia, Pulmonary embolism, Growth delay, Poor fine motor coordination, Pul...	ORPHA:79282
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Short neck, Flexion contracture, Tibial bowing, Irregular vertebral endplates, Short phalanx of f...	OMIM:143095
Autoimmune Pulmonary Alveolar Proteinosis	Crackles, Dyspnea, Clubbing, Weight loss, Hypoxemia, Restrictive ventilatory defect, Cough, Decre...	ORPHA:747
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Skeletal muscle atrophy, Flexion contracture, Dilated cardiomyopathy, Decreased body weight, Fail...	ORPHA:89842
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Ataxia, Head titubation, Kyphosis, Interstitial emphysema, Bronchiectasis, Dysmetria, Knee flexio...	OMIM:619708
Srd5A3-Cdg	Kyphosis, Abnormal sacrum morphology, Ataxia	ORPHA:324737
Hyperkalemic Periodic Paralysis	Episodic flaccid weakness, Periodic hyperkalemic paralysis	OMIM:170500
Rubinstein-Taybi Syndrome 1	Respiratory distress, Flexion contracture, Prominent fingertip pads, Clinodactyly of the 5th fing...	OMIM:180849
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress, Preaxial hand polydactyly, Slender finger, Proximal placement of thumb	OMIM:610536
Colchicine Poisoning	Respiratory distress, Myocarditis, Congestive heart failure, Hypovolemia, Cardiorespiratory arres...	ORPHA:31824
Follicular Lymphoma	Pleural effusion, Weight loss	ORPHA:545
Lysosomal Acid Lipase Deficiency	Pulmonary arterial hypertension, Failure to thrive, Cachexia, Weight loss	ORPHA:275761
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Overlapping fingers, Overlapping toe, Inability to walk, Kyphosis, Recurrent p...	ORPHA:464738
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture, Gait disturbance	ORPHA:85193
Juvenile Polyposis Of Infancy	Short stature, Cachexia, Clubbing of fingers, Broad thumb, Broad phalanx of the toes	ORPHA:79076
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Tapered finger, Tremor, Kyphosis, Unilateral radial aplasia, Partial absence of thumb, Aplasia of...	ORPHA:476126
Trisomy 20P	Finger syndactyly, Incoordination, Camptodactyly of finger, Short neck, Kyphosis, Preaxial hand p...	ORPHA:261318
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Multiple joint contractures, Short neck, Metaphyseal widening, Irregular ve...	ORPHA:99646
Cono-Spondylar Dysplasia	Short humerus, Short neck, Kyphosis, Poor coordination, Cone-shaped epiphyses of the phalanges of...	ORPHA:420794
Marden-Walker Syndrome	Skeletal muscle atrophy, Severe short stature, Arachnodactyly, Camptodactyly of finger, Metatarsu...	ORPHA:2461
Vici Syndrome	Postnatal growth retardation, Myopathy, Failure to thrive, Left ventricular hypertrophy	OMIM:242840
Non-Functioning Paraganglioma	Tremor, Vocal cord paralysis, Weight loss	ORPHA:94080
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Kyphosis, Sacral dimple, Large for gestational age	OMIM:618272
Cleidocranial Dysplasia 1	Respiratory distress, Neonatal respiratory distress, Brachydactyly, Short stature, Short middle p...	OMIM:119600
Schinzel-Giedion Syndrome	Respiratory distress, Sacrococcygeal teratoma, Failure to thrive in infancy, Overlapping toe, Kyp...	ORPHA:798
Reticular Dysgenesis	Failure to thrive, Weight loss	ORPHA:33355
Pseudomyxoma Peritonei	Respiratory insufficiency, Weight loss	ORPHA:26790
Marshall-Smith Syndrome	Thoracic scoliosis, Apnea, Distal widening of metacarpals, Coxa vara, Hypertonia, Thoracic kyphos...	OMIM:602535
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hypoventilation, Ataxia, Paralysis, Hypertonia, Myoclonus, Scoliosis, Tetraparesis, Tracheomalaci...	OMIM:203700
Adnp Syndrome	Respiratory distress, Broad hallux, Sandal gap, Abnormal toe morphology, Cryptorchidism, Abnormal...	ORPHA:404448
Koolen-De Vries Syndrome	Vertebral fusion, Sacral dimple, Short stature, Small for gestational age, Kyphosis, Hypotrophy o...	OMIM:610443
Graves Disease, Susceptibility To, 1	Muscle weakness, Weight loss	OMIM:275000
Megalocornea-Intellectual Disability Syndrome	Ataxia, Short stature, Tapered finger, Kyphosis, Scoliosis, Metatarsus valgus, Genu varum	ORPHA:2479
Riddle Syndrome	Short stature, Ataxia, Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Clumsiness, Weight loss...	ORPHA:420741
Recon Progeroid Syndrome	Skeletal muscle atrophy, Long thumb, Arachnodactyly, Proximal placement of thumb	OMIM:620370
Rett Syndrome, Congenital Variant	Kyphosis, Chorea, Athetosis, Talipes equinovarus, Scoliosis, Apraxia, Aspiration, Spasticity	OMIM:613454
Cystinosis, Nephropathic	Skeletal muscle atrophy, Short stature, Failure to thrive in infancy, Metaphyseal widening, Weigh...	OMIM:219800
Porphyria, Acute Intermittent	Respiratory paralysis, Muscle weakness, Paralysis	OMIM:176000
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis, Proximal placement of thumb	OMIM:615433
Pachyonychia Congenita	Respiratory distress, Failure to thrive	ORPHA:2309
Agnathia-Otocephaly Complex	Respiratory distress, Tracheomalacia	OMIM:202650
2Q31.1 Microdeletion Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short stature, Camptodactyly of finger, ...	ORPHA:251014
Juvenile Dermatomyositis	Calcinosis, Myositis, Dyspnea, Weight loss, Restrictive ventilatory defect, Cough, Muscle weakness	ORPHA:93672
Ichthyosis, Congenital, Autosomal Recessive 2	Growth delay, Short toe, Short finger, Paralysis	OMIM:242100
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Kyphosis, Joint contracture, Scoliosis	OMIM:615381
Rift Valley Fever	Back pain, Miscarriage, Paralysis, Paraparesis, Hemiparesis, Decerebrate rigidity, Muscle weakness	ORPHA:319251
Magel2-Related Prader-Willi-Like Syndrome	Short stature, Kyphosis, Flexion contracture, Small hand, Increased body weight, Short foot, Abdo...	ORPHA:398069
Laryngeal Abductor Paralysis	Stridor, Vocal cord paralysis, Talipes equinovarus	OMIM:150260
Singleton-Merten Syndrome 1	Waddling gait, Hypoplastic distal radial epiphyses, Coxa valga, Congestive heart failure, Osteoly...	OMIM:182250
Congenital Disorder Of Glycosylation, Type Il	Kyphosis, Failure to thrive, Short neck	OMIM:608776
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Bowing of the long bones, Short stature, Short neck, Kyphosis...	ORPHA:140
Harrod Syndrome	Arachnodactyly, Kyphosis, Scoliosis, Intrauterine growth retardation, Failure to thrive	ORPHA:2115
Generalized Pseudohypoaldosteronism Type 1	Failure to thrive in infancy, Proportionate short stature, Wheezing, Weight loss, Cough	ORPHA:171876
Pulmonary Alveolar Microlithiasis	Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B...	ORPHA:60025
Leprosy	Skeletal muscle atrophy, Autoamputation of digits, Epistaxis, Testicular mass, Steppage gait, Mus...	ORPHA:548
Poems Syndrome	Respiratory insufficiency due to muscle weakness, Metaphyseal sclerosis, Weight loss, Restrictive...	ORPHA:2905
Mu-Heavy Chain Disease	Weight loss	ORPHA:100024
Cystic Echinococcosis	Asthma, Abnormality of the vertebral column, Abnormality of the diaphragm, Weight loss	ORPHA:400
Hurler Syndrome	Short stature, Hypoplasia of the femoral head, Diaphyseal thickening, Short neck, Coxa valga, Hyp...	OMIM:607014
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Fused cervical vertebrae, Failure to thrive in infancy	OMIM:612852
Beta-Ketothiolase Deficiency	Ataxia, Tachypnea, Weight loss, Extrapyramidal dyskinesia, Cough, Spasticity	ORPHA:134
Lateral Meningocele Syndrome	Vertebral fusion, Decreased muscle mass, Short stature, Short neck, Kyphosis, Scoliosis, Biconcav...	OMIM:130720
Distal Triplication 15Q	Arachnodactyly, Large for gestational age, Kyphosis, Flexion contracture, Scoliosis, Camptodactyl...	ORPHA:314588
Holt-Oram Syndrome	Finger syndactyly, Absent thumb, Abnormality of the humerus, Kyphosis, Split hand, Aplasia/Hypopl...	ORPHA:392
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Cryptorchidism, Hypertension	ORPHA:1555
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis	ORPHA:77300
Arthrogryposis And Ectodermal Dysplasia	Skeletal muscle atrophy, Short stature, Kyphoscoliosis, Camptodactyly, Arthrogryposis multiplex c...	OMIM:601701
Inflammatory Bowel Disease (Crohn Disease) 1	Growth delay, Weight loss	OMIM:266600
X-Linked Agammaglobulinemia	Sinusitis, Short stature, Recurrent pneumonia, Weight loss, Failure to thrive	ORPHA:47
Neu-Laxova Syndrome	Skeletal muscle atrophy, Micromelia, Flexion contracture, Opisthotonus, Large hands, Muscular dys...	ORPHA:2671
3-Hydroxy-3-Methylglutaric Aciduria	Ataxia, Apnea, Spastic hemiparesis, Tachypnea, Weight loss, Myoclonus, Lethargy, Spasticity	ORPHA:20
Williams Syndrome	Tremor, Abnormal form of the vertebral bodies, Dysmetria, Vertebral segmentation defect, Clinodac...	ORPHA:904
Proteasome-Associated Autoinflammatory Syndrome 1	Hallux valgus, Skeletal muscle atrophy, Failure to thrive, Camptodactyly of finger, Long fingers,...	OMIM:256040
Stickler Syndrome, Type I	Arachnodactyly, Kyphosis, Irregular femoral epiphysis, Platyspondyly, Morbus Scheuermann, Scolios...	OMIM:108300
Coccidioidomycosis	Respiratory distress, Pericarditis, Pneumonia, Cough, Vasculitis, Vasospasm, Cerebral ischemia, P...	ORPHA:228123
X-Linked Intellectual Disability, Snyder Type	Long toe, Decreased muscle mass, Short stature, Involuntary movements, Kyphoscoliosis, Arachnodac...	ORPHA:3063
Giant Cell Arteritis	Ataxia, Epistaxis, Ophthalmoparesis, Weight loss, Cough, Muscle weakness	ORPHA:397
Malignant Peritoneal Mesothelioma	Dyspnea, Weight loss	ORPHA:168811
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Respiratory distress, Sudden cardiac death, Weight loss, Restrictive...	ORPHA:537
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Abnormal sacroiliac joint morphology, Weight loss, Scoliosis, Abnormal metaphysis morphology, Abn...	ORPHA:324964
Celiac Disease, Susceptibility To, 1	Short stature, Ataxia, Postnatal growth retardation, Weight loss, Delayed puberty, Failure to thrive	OMIM:212750
Cushing Disease	Myocardial infarction, Fatiguable weakness of proximal limb muscles, Increased body weight, Secon...	ORPHA:96253
Attrv30M Amyloidosis	Weight loss	ORPHA:85447
Wolf-Hirschhorn Syndrome	Sacral dimple, Ataxia, Arachnodactyly, Congenital diaphragmatic hernia, Short hallux, Kyphosis, S...	ORPHA:280
Familial Colorectal Cancer Type X	Hemiplegia/hemiparesis, Flexion contracture, Abnormal pyramidal sign, Weight loss, Hypertonia, Ga...	ORPHA:440437
Duane Retraction Syndrome	Skeletal muscle atrophy, Aplasia/Hypoplasia of the thumb, Short neck, Absent radius, Preaxial han...	ORPHA:233
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Multiple joint contractures, Short stature, Small for gestational age, Arachnodact...	ORPHA:464306
Bronchial Neuroendocrine Tumor	Pneumonia, Dyspnea, Nonproductive cough, Asthma, Wheezing, Weight loss, Bronchospasm	ORPHA:97287
Cohen Syndrome	Finger syndactyly, Short stature, Failure to thrive in infancy, Arachnodactyly, Tapered finger, S...	ORPHA:193
Trisomy 13	Kyphosis, Postaxial hand polydactyly, Ectrodactyly, Scoliosis, Intrauterine growth retardation	ORPHA:3378
Lambert-Eaton Myasthenic Syndrome	Progressive proximal muscle weakness, Impotence, Orthostatic hypotension due to autonomic dysfunc...	ORPHA:43393
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Short fourth metatarsal, Short stature, Overlapping toe, Kyphosis, Bilateral camptodactyly, Growt...	OMIM:619557
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Pneumonia, Abnormal fingertip morphology, Dyspnea, Dilated cardiomyopathy, ...	ORPHA:79404
Acute Promyelocytic Leukemia	Epistaxis, Productive cough, Weight loss, Muscle weakness, Exertional dyspnea	ORPHA:520
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Failure to thrive, Small for gestational age, Ankle flexion contracture, Tapered finger, Kyphosis...	ORPHA:464311
Osteosarcoma	Abnormal femoral metaphysis morphology, Abnormal metaphysis morphology, Abnormal tibial metaphysi...	ORPHA:668
Norrie Disease	Clonus, Cachexia, Hypertonia, Scoliosis, Delayed puberty, Failure to thrive, Muscle weakness	ORPHA:649
Paget Disease Of Bone 5, Juvenile-Onset	Short humerus, Bowing of the long bones, Short stature, Kyphosis, Lateral femoral bowing, Failure...	OMIM:239000
Nocardiosis	Respiratory distress, Pericarditis, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pn...	ORPHA:31204
Hyperparathyroidism, Transient Neonatal	Respiratory distress, Short femur, Metaphyseal spurs, Femoral bowing	OMIM:618188
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Hypertension, Overlapping toe	OMIM:123790
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hallux valgus, Sandal gap, Camptodactyly of finger, Rocker bottom foot, Kyphosis, 3-4 finger cuta...	OMIM:619951
Trisomy 9P	Sacral dimple, Short neck, Kyphosis, Scoliosis, Clinodactyly of the 5th finger, Brachydactyly	ORPHA:236
Cole-Carpenter Syndrome	Bowing of the long bones, Short stature, Kyphosis, Abnormal form of the vertebral bodies, Scolios...	ORPHA:2050
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Ataxia, Rhabdomyolysis, Ragged-red muscle fibers, Neonatal death, Spasticity, Failure to thrive, ...	OMIM:124000
Microphthalmia, Lenz Type	Finger syndactyly, Short stature, Camptodactyly of finger, Hyperlordosis, Kyphosis, Scoliosis, Cl...	ORPHA:568
Spondyloenchondrodysplasia	Metaphyseal dysplasia, Short stature, Pneumonia, Bowing of the legs, Kyphosis, Chorea, Disproport...	ORPHA:1855
Distal Renal Tubular Acidosis	Short stature, Paralysis, Respiratory insufficiency due to muscle weakness, Growth delay, Failure...	ORPHA:18
Distal 16P11.2 Microdeletion Syndrome	Kyphosis, Arachnodactyly, Obesity	ORPHA:261222
Ramos-Arroyo Syndrome	Severe failure to thrive, Respiratory distress, Decreased body weight	ORPHA:1051
Hereditary Angioedema Type 1	Respiratory distress, Dyspnea, Inspiratory stridor, Hypotension	ORPHA:100050
Isolated Permanent Neonatal Diabetes Mellitus	Ataxia, Weight loss, Lower-limb joint contracture, Apraxia, Intrauterine growth retardation, Fail...	ORPHA:99885
Neuroblastoma, Susceptibility To, 1	Failure to thrive, Ataxia, Myoclonus, Weight loss	OMIM:256700
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Arachnodactyly, Overlapping toe, Postnatal growth retardation, Contracture ...	ORPHA:83617
Osteogenesis Imperfecta	Cervical kyphosis, Micromelia, Abnormal tibia morphology, Flexion contracture, Abnormal femur mor...	ORPHA:666
Difference Of Sex Development-Intellectual Disability Syndrome	Kyphosis, Spina bifida occulta, Genu valgum, Short neck	ORPHA:2983
Systemic Capillary Leak Syndrome	Cardiorespiratory arrest, Weight loss, Cough, Pleural effusion, Rhinorrhea	ORPHA:188
Cole-Carpenter Syndrome 2	Postnatal growth retardation, Kyphosis, Platyspondyly, Short stature	OMIM:616294
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress, Transient ischemic attack, Myocardial infarction	OMIM:274150
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Postaxial polydactyly, Kyphosis, 2-3 toe syndactyly, Postaxial foot polydactyly, Scoliosis, Broad...	ORPHA:404440
Rodrigues Blindness	Nasal flaring, Short stature	OMIM:268320
Basel-Vanagaite-Smirin-Yosef Syndrome	Kyphosis, Recurrent pneumonia, 2-3 toe syndactyly, Scoliosis, Pulmonary arterial hypertension, Sp...	OMIM:616449
Mast Cell Sarcoma	Weight loss	ORPHA:66661
Pfapa Syndrome	Weight loss	ORPHA:42642
Igg4-Related Aortitis	Low back pain, Asthma, Weight loss	ORPHA:449400
Micro Syndrome	Short stature, Kyphosis, Scoliosis, Delayed puberty, Intrauterine growth retardation, Spasticity	ORPHA:2510
Noonan Syndrome 14	Scapular winging, Short stature, Short neck, Kyphosis, Clinodactyly	OMIM:619745
Dermatomyositis	Proximal muscle weakness, Respiratory insufficiency, Weight loss, Inflammatory myopathy, Pulmonar...	ORPHA:221
Cockayne Syndrome B	Severe short stature, Ataxia, Small for gestational age, Postnatal growth retardation, Kyphosis, ...	OMIM:133540
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Neonatal respiratory distress, Kyphosis, Increased femoral anteversion, Scoliosis, Death in child...	OMIM:619005
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Speech apraxia, Hallux valgus, Ataxia, Kyphoscoliosis, Tremor, Kyphosis, Left ventricular noncomp...	OMIM:300967
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Lumbar hyperlordosis, Facial hypotonia, Arachnodactyly, Kyphoscoliosis, Large for gestational age...	ORPHA:457359
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hip contracture, Short neck, Broad distal phalanx of the toes, Kyphosis, Elbow flexion contractur...	OMIM:619194
Cockayne Syndrome A	Hip contracture, Short stature, Ataxia, Tremor, Kyphosis, Ivory epiphyses of the phalanges of the...	OMIM:216400
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Clonus, Abnormal curvature of the vertebral column, Hypertonia, Intention tremor, Atax...	OMIM:619475
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress	ORPHA:990
Deafness-Lymphedema-Leukemia Syndrome	Respiratory failure, Weight loss	ORPHA:3226
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, Congenital diaph...	ORPHA:2911
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormal metacarpophalangeal joint morphology, Mild postnatal growth retardation, Abnormal metata...	ORPHA:85408
Glossopharyngeal Neuralgia	Vocal cord paralysis, Abnormality of the cervical spine, Weight loss	ORPHA:221098
Alstrom Syndrome	Short stature, Kyphosis, Asthma, Recurrent pneumonia, Truncal obesity, Scoliosis	OMIM:203800
Mend Syndrome	Sacral dimple, Short stature, Broad hallux, Overlapping toe, Kyphosis, Long fingers, 2-3 toe synd...	ORPHA:401973
Spondyloepimetaphyseal Dysplasia, X-Linked	Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen...	OMIM:300106
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Apnea, Kyphosis, Hypopnea, Restrictive ventilatory defect, Difficulty walking, S...	OMIM:619482
Marfanoid Habitus With Situs Inversus	Kyphosis, Arachnodactyly, Hyperextensibility of the finger joints, Scoliosis	OMIM:609008
Aicardi-Goutieres Syndrome 7	Lower limb spasticity, Poor head control, Pneumonia, Spastic tetraparesis, Tetraplegia, Weight lo...	OMIM:615846
Leishmaniasis	Rhinitis, Weight loss	ORPHA:507
Al Amyloidosis	Dyspnea, Macroglossia, Nonproductive cough, Weight loss	ORPHA:85443
Ulbright-Hodes Syndrome	Respiratory distress, Short humerus, Short metacarpal, Short neck, Postnatal growth retardation, ...	ORPHA:3404
15Q14 Microdeletion Syndrome	Kyphosis, Short stature, Scoliosis	ORPHA:261190
Cockayne Syndrome Type 3	Skeletal muscle atrophy, Mild postnatal growth retardation, Kyphosis, Unsteady gait, Flexion cont...	ORPHA:90324
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hyperextensibility of the finger joints, Scapular winging, Arachnodactyly, Kyphosis, Long fingers...	OMIM:616914
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Skeletal muscle atrophy, Short stature, Small for gestational age, Overlapping toe, Tapered finge...	OMIM:309590
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Kyphos...	ORPHA:2062
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Sacral dimple, Short stature, Short neck, Kyphosis, Mesomelia, Scoliosis, Camptodacty...	OMIM:616894
Autosomal Recessive Robinow Syndrome	Death in infancy, Sacral dimple, Finger syndactyly, Broad hallux phalanx, Camptodactyly of finger...	ORPHA:1507
Koolen-De Vries Syndrome	Vertebral fusion, Short stature, Arachnodactyly, Kyphosis, Vertebral segmentation defect, Scoliosis	ORPHA:96169
African Trypanosomiasis	Abnormal central motor function, Miscarriage, Involuntary movements, Akinesia, Paralysis, Tremor,...	ORPHA:3385
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Paralysis	ORPHA:83601
Atypical Werner Syndrome	Skeletal muscle atrophy, Decreased body weight, Premature ovarian insufficiency, Telangiectasia o...	ORPHA:79474
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Small hypothenar eminence, Lumbar hyperlordosis, Thenar muscle atrophy, Kyphosis, Growth delay, T...	ORPHA:2232
8Q24.3 Microdeletion Syndrome	Respiratory distress, Long toe, Thoracic scoliosis, Infancy onset short-trunk short stature, Shor...	ORPHA:508488
Koolen-De Vries Syndrome Due To A Point Mutation	Speech apraxia, Hand muscle atrophy, Sacral dimple, Prominent fingertip pads, Small for gestation...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Speech apraxia, Hand muscle atrophy, Sacral dimple, Prominent fingertip pads, Small for gestation...	ORPHA:363958
Erdheim-Chester Disease	Ataxia, Dyspnea, Weight loss, Cough, Pleural effusion, Abnormal metaphysis morphology	ORPHA:35687
Atelis Syndrome 2	Sacral dimple, Dyspnea, Kyphosis, Dysmetria, Clinodactyly	OMIM:620185
Eosinophilic Gastroenteritis	Asthma, Allergic rhinitis, Weight loss	ORPHA:2070
Smith-Lemli-Opitz Syndrome	Congenital diaphragmatic hernia, Short neck, Proximal placement of thumb, Abnormal form of the ve...	ORPHA:818
Yao Syndrome	Asthma, Weight loss	OMIM:617321
Auriculocondylar Syndrome	Respiratory distress	ORPHA:137888
Late-Onset Isolated Acth Deficiency	Lethargy, Failure to thrive, Muscle weakness, Weight loss	ORPHA:199299
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis	OMIM:145260
Encephalocraniocutaneous Lipomatosis	Paralysis, Rigidity, Tetraplegia, Hemiparesis, Hypertonia, Hemiplegia, Pulmonary arterial hyperte...	ORPHA:2396
Acute Monoblastic/Monocytic Leukemia	Weight loss, Exertional dyspnea	ORPHA:514
Wolf-Hirschhorn Syndrome	Decreased muscle mass, Abnormal form of the vertebral bodies, Intrauterine growth retardation, Ve...	OMIM:194190
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Talipes equinova...	OMIM:617821
Lymphatic Malformation 7	Respiratory distress, Pleural effusion, Chylothorax	OMIM:617300
Short Syndrome	Short palm, Brachydactyly, Severe short stature, Weight loss	ORPHA:3163
Frank-Ter Haar Syndrome	Short palm, Bowing of the long bones, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, M...	OMIM:249420
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Nasal flaring, Asthma, Obesity, Short palm, Brachydactyly	ORPHA:466943
Drug Reaction With Eosinophilia And Systemic Symptoms	Dyspnea, Interstitial pneumonitis, Weight loss, Cough	ORPHA:139402
Alkaptonuria	Vertebral fusion, Low back pain, Kyphosis, Thickened Achilles tendon, Intervertebral disc degener...	OMIM:203500
Amoebiasis Due To Entamoeba Histolytica	Dyspnea, Weight loss, Pleural empyema, Cough, Pleural effusion	ORPHA:67
Thymic Neuroendocrine Tumor	Weight loss, Abnormal breath sound, Cough	ORPHA:97289
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Pulmonary arterial hypertension, Abnormal vertebral morphology	ORPHA:210122
Secondary Short Bowel Syndrome	Growth delay, Failure to thrive, Weight loss	ORPHA:95427
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy	OMIM:613154
Cowden Syndrome	Ataxia, Short stature, Kyphosis, Macroglossia, Scoliosis, Failure to thrive, Brachydactyly	ORPHA:201
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Osteogenesis Imperfecta, Type Viii	Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Femoral bowing, Tibial bowing, P...	OMIM:610915
Kaposi Sarcoma	Weight loss	ORPHA:33276
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Arachnodactyly, Large for gestational age, Hyperlordosis, Kyphosis, Gait ataxia, Large hands, Sco...	OMIM:617011
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Sacral dimple, Broad-based gait, Short stature, Ataxia, Small for gestational age,...	ORPHA:268261
Sporadic Pheochromocytoma/Secreting Paraganglioma	Tremor, Vocal cord paralysis, Weight loss	ORPHA:276621
Benign Recurrent Intrahepatic Cholestasis	Weight loss	ORPHA:65682
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Bilateral talipes equinovarus, Pulmonic stenosis, Mitral stenosis, Failure ...	OMIM:306955
Felty Syndrome	Rhinitis, Sinusitis, Recurrent pneumonia, Weight loss	ORPHA:47612
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Hallux valgus, Sacral dimple, Short stature, Thoracolumbar scoliosis, Overl...	ORPHA:480880
Lateral Meningocele Syndrome	Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis	ORPHA:2789
Malignant Atrophic Papulosis	Muscle flaccidity, Pleural effusion, Respiratory failure, Weight loss	ORPHA:679
Generalized Arterial Calcification Of Infancy	Respiratory distress, Transient ischemic attack, Failure to thrive in infancy, Retinal hemorrhage...	ORPHA:51608
Orofaciodigital Syndrome Iii	Postaxial foot polydactyly, Kyphosis, Postaxial hand polydactyly, Myoclonus	OMIM:258850
Renal Tubular Acidosis Iii	Periodic paralysis	OMIM:267200
Wild Type Attr Amyloidosis	Pleural effusion, Weight loss	ORPHA:330001
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Short stature, Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal interphalangeal j...	OMIM:618223
Behçet Disease	Myositis, Ataxia, Pulmonary embolism, Abnormal pyramidal sign, Weight loss, Hemiparesis, Gait dis...	ORPHA:117
Osteogenesis Imperfecta, Type Iv	Short stature, Biconcave flattened vertebrae, Kyphosis, Scoliosis, Femoral bowing present at birt...	OMIM:166220
Mend Syndrome	Sacral dimple, Short stature, Broad hallux, Overlapping toe, Kyphosis, Long fingers, 2-3 toe synd...	OMIM:300960
Cerebrocostomandibular Syndrome	Death in infancy, Neonatal respiratory distress, Short stature, Kyphosis, Clinodactyly of the 5th...	ORPHA:1393
Plague	Respiratory distress, Tachycardia, Hematemesis, Unsteady gait, Acute infectious pneumonia, Hypote...	ORPHA:707
Monosomy 9Q22.3	Rhabdomyosarcoma, Large for gestational age, Short neck, Kyphosis, Abnormality of the vertebral c...	ORPHA:77301
Gaucher Disease Type 1	Kyphosis, Growth delay, Delayed puberty, Pulmonary arterial hypertension, Vertebral compression f...	ORPHA:77259
Leprechaunism	Skeletal muscle atrophy, Large hands, Decreased body weight, Hypertrophic cardiomyopathy, Failure...	ORPHA:508
Zttk Syndrome	Short stature, Kyphosis, Flexion contracture, Hemivertebrae, Small hand, Growth delay, Short foot...	OMIM:617140
Polyarteritis Nodosa	Weight loss	ORPHA:767
Shprintzen Omphalocele Syndrome	Neonatal respiratory distress, Lumbar hyperlordosis, Short stature, Kyphosis, Scoliosis, Decrease...	OMIM:182210
Parkinson Disease 4, Autosomal Dominant	Parkinsonism, Weight loss	OMIM:605543
Doors Syndrome	Respiratory distress, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Abnormal toe morphology...	ORPHA:79500
Cap Polyposis	Weight loss	ORPHA:160148
Bullous Pemphigoid	Weight loss	ORPHA:703
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss	ORPHA:103910
Cardiofacioneurodevelopmental Syndrome	Clinodactyly of the 5th finger, Kyphosis, Brachydactyly, Camptodactyly	OMIM:619123
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Classical-Like Ehlers-Danlos Syndrome Type 2	Hallux valgus, Thoracic scoliosis, Sacral dimple, Arachnodactyly, Sandal gap, Kyphoscoliosis, Equ...	ORPHA:536532
Primary Hepatic Neuroendocrine Carcinoma	Dyspnea, Bronchospasm, Weight loss	ORPHA:100085
Cowden Syndrome 5	Kyphosis, Scoliosis, Intention tremor	OMIM:615108
Coffin-Siris Syndrome 1	Sacral dimple, Short stature, Sandal gap, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of ...	OMIM:135900
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Dyspnea, Weight loss, Aspiration pneumonia, Cough, Failure to thrive	ORPHA:1018
Hajdu-Cheney Syndrome	Coarse metaphyseal trabecularization, Brachydactyly, Short stature, Bowing of the long bones, Sho...	ORPHA:955
Primary Intestinal Lymphangiectasia	Growth delay, Pleural effusion, Weight loss	ORPHA:90362
Adrenocortical Carcinoma	Increased body weight, Muscle weakness, Weight loss	ORPHA:1501
Lenz-Majewski Hyperostotic Dwarfism	Finger syndactyly, Severe short stature, Facial palsy, Kyphosis, Abnormal metacarpal morphology, ...	ORPHA:2658
Liposarcoma	Weight loss	ORPHA:69078
Cowden Syndrome 6	Kyphosis, Scoliosis, Intention tremor	OMIM:615109
Osteootohepatoenteric Syndrome	Avascular necrosis of the capital femoral epiphysis, Asthma, Failure to thrive, Weight loss	OMIM:619377
Aggressive Systemic Mastocytosis	Weight loss	ORPHA:98850
Pyomyositis	Myositis, Weight loss	ORPHA:764
Osteoporosis-Pseudoglioma Syndrome	Short stature, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Tibial bowing, Platyspondyly, Scol...	OMIM:259770
Pigmented Nodular Adrenocortical Disease, Primary, 2	Kyphosis, Truncal obesity	OMIM:610475
Solitary Fibrous Tumor	Low back pain, Weight loss	ORPHA:2126
Polycythemia Vera	Weight loss, Epistaxis, Respiratory insufficiency, Pulmonary embolism	ORPHA:729
Hereditary Pheochromocytoma-Paraganglioma	Tremor, Vocal cord paralysis, Weight loss	ORPHA:29072
Mosaic Trisomy 20	Vertebral fusion, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vertebral segmentati...	ORPHA:1724
Pierson Syndrome	Skeletal muscle atrophy, Hypertension, Retinal hemorrhage	OMIM:609049
Aspartylglucosaminuria	Short stature, Kyphosis, Spasticity, Macroglossia, Platyspondyly, Spondylolysis, Scoliosis, Beaki...	OMIM:208400
Chronic Graft Versus Host Disease	Dyspnea, Wheezing, Pneumothorax, Flexion contracture, Bronchiectasis, Weight loss, Cough, Pleural...	ORPHA:99921
Neuroendocrine Tumor Of The Colon	Bronchospasm, Weight loss	ORPHA:100080
Rat-Bite Fever	Back pain, Tendonitis, Weight loss	ORPHA:31205
16Q24.3 Microdeletion Syndrome	Kyphosis, Proximal placement of thumb, Scoliosis	ORPHA:261250
Granulomatosis With Polyangiitis	Sinusitis, Respiratory insufficiency, Weight loss, Cough, Rhinorrhea	OMIM:608710
Multiple Myeloma	Pleural effusion, Vertebral compression fracture, Generalized muscle weakness, Weight loss	ORPHA:29073
Cowden Syndrome 1	Kyphosis, Scoliosis, Intention tremor	OMIM:158350
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Short stature, Camptodactyly of finger, Postnatal growth retardation, Kyphosis...	OMIM:309000
Acrodermatitis Enteropathica	Failure to thrive, Short stature, Weight loss	ORPHA:37
Familial Thrombocytosis	Pulmonary arterial hypertension, Miscarriage, Weight loss	ORPHA:71493
Primrose Syndrome	Hip contracture, Skeletal muscle atrophy, Short stature, Ataxia, Metatarsus adductus, Kyphosis, F...	OMIM:259050
Congenital Tufting Enteropathy	Failure to thrive, Weight loss	ORPHA:92050
Congenital Tracheal Stenosis	Respiratory distress, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction	ORPHA:141127
Familial Glucocorticoid Deficiency	Failure to thrive, Tetraplegia, Weight loss	ORPHA:361
Fanconi Anemia	Finger syndactyly, Hypoplasia of the ulna, Toe syndactyly, Short stature, Abnormal morphology of ...	ORPHA:84
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Short stature, Postaxial polydactyly, Postaxial hand polydactyly, Aplasia o...	OMIM:617088
Classic Homocystinuria	Arachnodactyly, Pulmonary embolism, Kyphosis, Hemiplegia/hemiparesis, Genu valgum, Scoliosis	ORPHA:394
Neuroendocrine Tumor Of The Rectum	Bronchospasm, Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Bronchospasm, Weight loss	ORPHA:100082
Nephroblastoma	Weight loss	ORPHA:654
Ménétrier Disease	Weight loss	ORPHA:2494
Stevens-Johnson Syndrome	Dyspnea, Restrictive ventilatory defect, Weight loss, Cough	ORPHA:36426
Sarcoidosis, Susceptibility To, 1	Dyspnea, Clubbing, Bronchiectasis, Weight loss, Hypoxemia, Restrictive ventilatory defect, Pleura...	OMIM:181000
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Rhinitis	OMIM:305100
Glucose-Galactose Malabsorption	Failure to thrive, Weight loss	ORPHA:35710
Pineoblastoma	Lethargy, Paralysis	ORPHA:251909
Oculocerebrorenal Syndrome Of Lowe	Death in infancy, Short stature, Clonus, Kyphosis, Respiratory insufficiency, Genu valgum, Platys...	ORPHA:534
Tuberous Sclerosis Complex	Respiratory distress, Hypertension, Respiratory failure, Internal hemorrhage	ORPHA:805
Wrinkly Skin Syndrome	Scapular winging, Short stature, Hypoplasia of the musculature, Kyphosis, Coxa vara, Talipes equi...	OMIM:278250
Refractory Celiac Disease	Weight loss	ORPHA:398063
Acute Adrenal Insufficiency	Weight loss, Failure to thrive, Muscle weakness, Delayed puberty	ORPHA:95409
Inflammatory Pseudotumor Of The Liver	Weight loss	ORPHA:90003
Pontocerebellar Hypoplasia Type 7	Skeletal muscle atrophy, Involuntary movements, Fatigable weakness of skeletal muscles, Hypertoni...	ORPHA:284339
Medullary Thyroid Carcinoma	Weight loss	ORPHA:1332
Pemphigus Vulgaris	Weight loss	ORPHA:704
Castleman Disease	Dyspnea, Weight loss, Cough	ORPHA:160
Primary Sclerosing Cholangitis	Pleural effusion, Generalized amyotrophy, Weight loss	ORPHA:171
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Hand tremor, Weight loss	ORPHA:424
Pigmented Nodular Adrenocortical Disease, Primary, 1	Kyphosis, Truncal obesity	OMIM:610489
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Kyphosis	OMIM:619244
Kasabach-Merritt Syndrome	Respiratory distress, Hypopnea	ORPHA:2330
Pseudoxanthoma Elasticum, Forme Fruste	Kyphosis, Scoliosis	OMIM:177850
Granulomatosis With Polyangiitis	Sinusitis, Epistaxis, Chronic pulmonary obstruction, Respiratory insufficiency, Weight loss, Rest...	ORPHA:900
Familial Osteodysplasia, Anderson Type	Kyphosis, Abnormal form of the vertebral bodies, Bifid femur, Aplasia/hypoplasia of the femur, Sc...	ORPHA:2769
Tsh-Secreting Pituitary Adenoma	Tremor, Internal ophthalmoplegia, Weight loss, Delayed puberty, Oculomotor nerve palsy, Periodic ...	ORPHA:91347
Pmm2-Cdg	Respiratory distress, Pericarditis, Multiple joint contractures, Hypogonadotropic hypogonadism, A...	ORPHA:79318
Imerslund-Gräsbeck Syndrome	Failure to thrive, Weight loss	ORPHA:35858
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Tricuspid ...	ORPHA:99125
Brucellosis	Miscarriage, Pneumonia, Small for gestational age, Chorea, Weight loss, Sacroiliac arthritis, Ple...	ORPHA:1304
Tyrosinemia, Type I	Growth delay, Failure to thrive, Periodic paralysis	OMIM:276700
Turner Syndrome Due To Structural X Chromosome Anomalies	Hypermobility of toe joints, Short stature, Failure to thrive in infancy, Splayed toes, Short nec...	ORPHA:99413
Mosaic Monosomy X	Hypermobility of toe joints, Short stature, Failure to thrive in infancy, Splayed toes, Short nec...	ORPHA:99228
Monosomy X	Hypermobility of toe joints, Short stature, Failure to thrive in infancy, Splayed toes, Short nec...	ORPHA:99226
Turner Syndrome	Hypermobility of toe joints, Short stature, Failure to thrive in infancy, Splayed toes, Short nec...	ORPHA:881
Hermansky-Pudlak Syndrome	Dyspnea, Epistaxis, Weight loss	ORPHA:79430
Sarcoidosis	Facial palsy, Proximal muscle weakness, Dyspnea, Pneumothorax, Bronchiectasis, Upper airway obstr...	ORPHA:797
Osteopetrosis, Autosomal Recessive 3	Periodic hypokalemic paresis, Short stature, Diaphyseal sclerosis	OMIM:259730
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Generalized muscle weakness, Abnormality of the extraocular muscles, Weight loss	ORPHA:79078
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Chromosome Xq26.3 Duplication Syndrome	Kyphosis	OMIM:300942
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Acromegaly	Cerebral palsy, Macrodactyly, Tapered finger, Kyphosis, Spinal canal stenosis, Macroglossia, Larg...	ORPHA:963
Somatomammotropinoma	Cerebral palsy, Macrodactyly, Tapered finger, Kyphosis, Spinal canal stenosis, Macroglossia, Larg...	ORPHA:314769
Insulin-Resistance Syndrome Type B	Pneumonia, Abnormality of body weight, Increased body weight, Weight loss, Decreased body weight	ORPHA:2298
17Q11 Microdeletion Syndrome	Abnormal central motor function, Short stature, Rhabdomyosarcoma, Bowing of the legs, Kyphosis, D...	ORPHA:97685
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss	ORPHA:86884
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Kyphosis, Clinodactyly, Radial deviation of finger	OMIM:609944
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Weight loss	ORPHA:54251
Alström Syndrome	Respiratory distress, Hypoplasia of the Leydig cells, Ataxia, Portal hypertension, Testicular fib...	ORPHA:64
Occipital Horn Syndrome	Aplasia/hypoplasia of the humerus, Coxa valga, Kyphosis, Avascular necrosis of the capital femora...	ORPHA:198
Nodular Non-Suppurative Panniculitis	Weight loss	ORPHA:33577
Budd-Chiari Syndrome	Weight loss	ORPHA:131
Familial Gestational Hyperthyroidism	Hand tremor, Weight loss	ORPHA:99819
Cushing Syndrome Due To Ectopic Acth Secretion	Fatiguable weakness of proximal limb muscles, Increased body weight, Weight loss, Proximal amyotr...	ORPHA:99889
Neuroendocrine Tumor Of Stomach	Bronchospasm, Weight loss	ORPHA:100075
Anemia, Congenital Dyserythropoietic, Type Iv	Short stature, Weight loss	OMIM:613673
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Short metacarpal, Short stature, Tapered finger, Coxa va...	OMIM:303600
Neurofibromatosis Type 1	Ataxia, Short stature, Kyphosis, Genu valgum, Scoliosis, Delayed puberty, Genu varum	ORPHA:636
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Severe short stature, Camptodactyly of finger, Kyphosis, Growth delay, Platyspondyly, Abnormality...	ORPHA:2273
Ramon Syndrome	Kyphosis, Short stature, Scoliosis, Decreased body weight	OMIM:266270
Addison Disease	Weight loss, Failure to thrive, Muscle weakness, Delayed puberty	ORPHA:85138
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Rhinitis, Co...	ORPHA:95455
Igg4-Related Retroperitoneal Fibrosis	Low back pain, Weight loss	ORPHA:49041
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Kyphosis, Scoliosis, Delayed puberty	OMIM:619718
Viss Syndrome	Long toe, Short stature, Arachnodactyly, Rocker bottom foot, Kyphosis, Asthma, Pneumothorax, Dysp...	OMIM:619472
Simple Cryoglobulinemia	Weight loss	ORPHA:91139
Occipital Horn Syndrome	Short humerus, Coxa valga, Kyphosis, Capitate-hamate fusion, Genu valgum, Growth delay, Platyspon...	OMIM:304150
Systemic Mastocytosis With Associated Hematologic Neoplasm	Weight loss	ORPHA:98849
Hutchinson-Gilford Progeria Syndrome	Coxa valga, Upper airway obstruction, Weight loss, Shuffling gait, Osteolytic defects of the dist...	ORPHA:740
Vipoma	Respiratory insufficiency due to muscle weakness, Generalized muscle weakness, Weight loss	ORPHA:97282
Familial Pancreatic Carcinoma	Back pain, Weight loss	ORPHA:1333
Spondyloarthropathy, Susceptibility To, 1	Back pain, Kyphosis, Sacroiliac arthritis	OMIM:106300
Cdags Syndrome	Kyphosis	OMIM:603116
Lymphedema-Distichiasis Syndrome	Kyphosis, Chylothorax	OMIM:153400
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Miscarriage, Short stature, Weight loss, Hypocapnia, Failure to thrive, Premature fusion of the r...	ORPHA:90794
Yunis-Varon Syndrome	Anterior concavity of thoracic vertebrae, Short metatarsal, Absent hallux, Aspiration pneumonia, ...	OMIM:216340
Branchiooculofacial Syndrome	Facial palsy, Proximal placement of thumb, Hyperlordosis, Postnatal growth retardation, Kyphosis,...	OMIM:113620
Goodpasture Syndrome	Crackles, Increased DLCO, Tachypnea, Weight loss, Restrictive ventilatory defect, Cough, Exertion...	OMIM:233450
Klatskin Tumor	Weight loss	ORPHA:99978
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Neonatal respiratory distress, Respiratory acidosis	OMIM:614748
Pancreatic Triacylglycerol Lipase Deficiency	Growth delay, Weight loss	ORPHA:309031
Reactive Arthritis	Respiratory insufficiency, Weight loss	ORPHA:29207
Caroli Disease	Weight loss	ORPHA:53035
Primary Fanconi Renotubular Syndrome	Growth delay, Muscle weakness, Weight loss	ORPHA:3337
Kikuchi-Fujimoto Disease	Pleural effusion, Ataxia, Weight loss	ORPHA:50918
Parathyroid Carcinoma	Muscle weakness, Weight loss	ORPHA:143
Carney-Stratakis Syndrome	Weight loss	ORPHA:97286
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Kyphosis, Tarsal synostosis	ORPHA:85199
Sotos Syndrome	Sacrococcygeal teratoma, Hip contracture, Ankle flexion contracture, Tremor, Kyphosis, Bilateral ...	ORPHA:821
Renal Nutcracker Syndrome	Weight loss	ORPHA:71273
Gallbladder Neuroendocrine Tumor	Weight loss	ORPHA:100086
Multiple Endocrine Neoplasia Type 1	Lethargy, Weight loss	ORPHA:652
Postinfectious Vasculitis	Pneumonia, Weight loss	ORPHA:48435
Ileal Neuroendocrine Tumor	Weight loss	ORPHA:100078
Ppoma	Weight loss	ORPHA:97278
Somatostatinoma	Weight loss	ORPHA:97283
Pancreatoblastoma	Weight loss	ORPHA:677
Grfoma	Weight loss	ORPHA:97261
Zollinger-Ellison Syndrome	Weight loss	ORPHA:913
Tropical Pancreatitis	Weight loss	ORPHA:103918
Glucagonoma	Weight loss	ORPHA:97280
Igg4-Related Kidney Disease	Interstitial pneumonitis, Chronic sinusitis, Weight loss	ORPHA:449395
Malt Lymphoma	Weight loss	ORPHA:52417
Immunodeficiency 82 With Systemic Inflammation	Pneumonia, Bronchiectasis, Weight loss	OMIM:619381
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Weight loss	OMIM:301074
Tubulointerstitial Nephritis And Uveitis Syndrome	Weight loss	ORPHA:91500
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Cryptorchidism, Respiratory insufficiency	ORPHA:456328

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 Mtm1

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 Mtm1.

No publications found that use IMPC mice or data for Mtm1.

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
Mtm1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Mtm1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	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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