Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
SH3 and cysteine rich domain 3
Synonyms:
N/A

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Stac3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Stac3 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Stac3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Tubular Aggregate Myopathy
Type 2 muscle fiber atrophy, Increased variability in muscle fiber diameter, EMG: myopathic abnor... ORPHA:2593
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs, Increased endom... OMIM:619733
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Foot dorsiflexor weakness, Limb-girdle muscular dystrophy, Proximal muscle weakness in lower limb... OMIM:615424
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Proximal lower limb amyotrophy,... OMIM:158600
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Shoulder girdle muscle atrophy, Increased variability in muscle fiber diameter, EMG: myopathic ab... OMIM:254110
Tibial Muscular Dystrophy
Foot dorsiflexor weakness, Proximal muscle weakness in lower limbs, Increased variability in musc... ORPHA:609
Glycogen Storage Disease Xiii
Increased muscle glycogen content OMIM:612932
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Flexion contracture, Muscular dystrophy, EMG: myopathic abnormalities, Autophagic vacuoles, Shoul... OMIM:608423
Myopathy, Distal, With Rimmed Vacuoles
Foot dorsiflexor weakness, Skeletal muscle atrophy, Increased variability in muscle fiber diamete... OMIM:617158
Inclusion Body Myositis
Inflammatory myopathy, Skeletal muscle atrophy, Ragged-red muscle fibers, Quadriceps muscle weakn... ORPHA:611
Central Core Disease Of Muscle
Nemaline bodies, Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Ankle f... OMIM:117000
Vacuolar Neuromyopathy
Foot dorsiflexor weakness, Muscle fiber splitting, Muscular dystrophy, Shoulder girdle muscle wea... OMIM:601846
Nonaka Myopathy
Deposits immunoreactive to beta-amyloid protein, EMG: myopathic abnormalities, Distal amyotrophy,... OMIM:605820
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Foot dorsiflexor weakness, Increased variability in muscle fiber diameter, Type 1 muscle fiber pr... OMIM:618655
Myopathy, Distal, 5
Muscle fiber splitting, Myopathy, Distal amyotrophy, Facial palsy, Rimmed vacuoles OMIM:617030
Myopathy, Scapulohumeroperoneal
Achilles tendon contracture, Hand muscle atrophy, Nemaline bodies, Foot dorsiflexor weakness, Ske... OMIM:616852
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Myopathy OMIM:618992
Muscular Dystrophy, Limb-Girdle, Type 1H
Shoulder girdle muscle atrophy, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, C... OMIM:613530
Congenital Myasthenic Syndromes With Glycosylation Defect
High palate, Frequent falls, Flexion contracture, Limb-girdle muscle weakness, Ragged-red muscle ... ORPHA:353327
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Increased variability in muscle f... OMIM:618848
Myopathy, Centronuclear, 1
Flexion contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Skeletal mus... OMIM:160150
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Flexion limitation of toes, Proxi... OMIM:609115
Gne Myopathy
Lower limb amyotrophy, Foot dorsiflexor weakness, Weakness of long finger extensor muscles, Lower... ORPHA:602
Myopathy, Congenital Proximal, With Minicore Lesions
Minicore myopathy, Type 1 muscle fiber predominance, Z-band streaming, Centrally nucleated skelet... OMIM:618823
Myopathy, Myosin Storage, Autosomal Dominant
Shoulder girdle muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, General... OMIM:608358
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, Generalized amyotrophy, Increased variability in muscle fiber dia... OMIM:619178
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in upper limbs, Foot dorsiflexor weakness, Proximal muscle weakness in l... OMIM:601954
Myopathy, Myofibrillar, 5
Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy, Muscle fiber splitting OMIM:609524
Distal Myopathy, Welander Type
Foot dorsiflexor weakness, Weakness of long finger extensor muscles, Intrinsic hand muscle atroph... ORPHA:603
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Limb-girdle muscle weakness, Generalized amyotrophy, Muscular dystrophy, Increased variability in... ORPHA:86812
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Restrictive ventilatory defect, Flexion contracture, Kyphosis, Adducted thumb, Scoliosis, Arthrog... OMIM:618484
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers OMIM:614807
Myopathy, Centronuclear, 2
High palate, Flexion contracture, Kyphosis, Generalized amyotrophy, EMG: myopathic abnormalities,... OMIM:255200
Mitochondrial Myopathy With Diabetes
Ragged-red muscle fibers, EMG: myopathic abnormalities, Proximal amyotrophy, Weakness of orbicula... OMIM:500002
Lethal Congenital Contracture Syndrome 3
Neonatal death, Multiple joint contractures, Arthrogryposis multiplex congenita, Skeletal muscle ... OMIM:611369
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Scapular winging, Shoulder girdle muscle weakness, Angulated muscle fibers, Weakness of facial mu... OMIM:619477
Inclusion Body Myositis
Inflammatory myopathy, Rimmed vacuoles OMIM:147421
Myopathy, Myofibrillar, 8
Achilles tendon contracture, High palate, Dental malocclusion, Nemaline bodies, Frequent falls, R... OMIM:617258
Oculopharyngodistal Myopathy 2
Increased endomysial connective tissue, Increased variability in muscle fiber diameter, EMG: myop... OMIM:618940
Hereditary Myopathy With Early Respiratory Failure
Muscle fiber hypertrophy, Foot dorsiflexor weakness, Skeletal muscle atrophy, Muscle fiber splitt... ORPHA:178464
Marinesco-Sjogren Syndrome
Flexion contracture, Coxa valga, Centrally nucleated skeletal muscle fibers, Skeletal muscle atro... OMIM:248800
Salih Myopathy
Flexion contracture, Myopathy, Facial palsy, Centrally nucleated skeletal muscle fibers, Calf mus... OMIM:611705
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Myositis, Skeletal muscle atrophy, Myopathy, Rimmed vacuoles, Muscle fiber atrophy, Centrally nuc... OMIM:615422
Myopathy, Congenital, With Fiber-Type Disproportion
High palate, Congenital hip dislocation, Reduced forced vital capacity, Respiratory insufficiency... OMIM:255310
Myopathy, Myosin Storage, Autosomal Recessive
Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fib... OMIM:255160
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Resting tremor, Increased variability in muscle fiber diameter, Central core regions in... ORPHA:401768
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Foot dorsiflexor weakness, Intrinsic hand muscle atrophy, Vocal cord paresis, Polyminimyoclonus, ... OMIM:619574
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo... ORPHA:457050
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
High palate, Restrictive ventilatory defect, Abnormal motor nerve conduction velocity, Muscle fib... OMIM:614399
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy, ... OMIM:609200
Infantile-Onset X-Linked Spinal Muscular Atrophy
Cupped ribs, Arthrogryposis multiplex congenita, High palate, Skeletal muscle atrophy, Short ribs... ORPHA:1145
Spastic Paraplegia 18, Autosomal Recessive
High palate, Kyphosis, Skeletal muscle atrophy, Lower limb muscle weakness, Upper limb spasticity... OMIM:611225
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
High palate, Muscular dystrophy, Pectus excavatum, Scoliosis, Respiratory insufficiency due to mu... OMIM:617066
Congenital Muscular Dystrophy, Ullrich Type
Increased variability in muscle fiber diameter, Scoliosis, Hip dislocation, Slender finger, Incre... ORPHA:75840
Postsynaptic Congenital Myasthenic Syndromes
Abnormality of masticatory muscle, Fatigable weakness of neck muscles, Scoliosis, Weakness of the... ORPHA:98913
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Flexion contracture OMIM:300717
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Neuronopathy, Distal Hereditary Motor, Type Iib
Distal lower limb muscle weakness, Paresis of extensor muscles of the big toe, Paralysis OMIM:608634
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Myofibrillar myopathy, Increased variability in muscle fiber diameter, Skeletal muscle fibrosis, ... ORPHA:34516
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Increased variability in muscle fiber diameter, Scapular winging, Centrally nucleated skeletal mu... ORPHA:437572
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle atrophy, Abnormal lower motor neuron morphology, Lower limb muscle weakness, Vocal co... OMIM:607641
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Foot dorsiflexor weakness, Facial hypotonia, Hip flexor weakness, Increased endomysial connective... ORPHA:266
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Weakness of facial musculature, Increased intramyocellular lipid droplets OMIM:619062
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Minicore myopathy, High palate, Multiple joint contractures, Increased variability in muscle fibe... ORPHA:486815
Nemaline Myopathy 2
Long philtrum, Increased variability in muscle fiber diameter, Limb muscle weakness, Abnormal rib... OMIM:256030
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Intrinsic hand muscle atrophy, Ragged-red muscle fibers,... ORPHA:276435
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Myopathy, Rimmed vacuoles, Abnormal muscle fiber morphology ORPHA:270
Autosomal Recessive Centronuclear Myopathy
Narrow mouth, High palate, Bifid uvula, Scapular winging, Generalized amyotrophy, Facial diplegia... ORPHA:169186
Spinal Muscular Atrophy, Infantile, James Type
Lower limb muscle weakness, Increased variability in muscle fiber diameter, Type 1 muscle fiber p... OMIM:619042
Neuronopathy, Distal Hereditary Motor, Type Iia
Distal lower limb muscle weakness, Paresis of extensor muscles of the big toe, Paralysis OMIM:158590
X-Linked Centronuclear Myopathy
High palate, Necklace skeletal muscle fibers, Respiratory failure requiring assisted ventilation,... ORPHA:596
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Congenital diaphragmatic hernia OMIM:226735
Minicore Myopathy With External Ophthalmoplegia
Minicore myopathy, High palate, Nemaline bodies, Skeletal muscle atrophy, Type 1 and type 2 muscl... OMIM:255320
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Congenital muscular dystrophy, Skeletal muscle atrophy, Increased variability in muscle fiber dia... OMIM:613204
Myasthenic Syndrome, Congenital, 5
Type 2 muscle fiber atrophy, Hyperlordosis, Respiratory insufficiency, Limb muscle weakness, Fati... OMIM:603034
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Proximal muscle weakness in upper limbs, Increased variability in muscle fiber diameter, Hamstrin... ORPHA:206549
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers ORPHA:324581
King-Denborough Syndrome
Minicore myopathy, High palate, Thoracic kyphosis, Short neck, Deep philtrum, Type 1 muscle fiber... OMIM:619542
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscular dystrophy, Increased variability in muscle fiber diameter, EMG: myopathic abnormalities,... OMIM:253601
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Vocal cord paralysis, Tremor, Distal amyotrophy OMIM:158580
Myopathy, X-Linked, With Postural Muscle Atrophy
Scapular winging, Flexion contracture, Short neck, Back pain, Elevated circulating creatine kinas... OMIM:300696
Muscular Dystrophy, Congenital, Merosin-Positive
Flexion contracture, Congenital muscular dystrophy, Increased variability in muscle fiber diamete... OMIM:609456
Myasthenic Syndrome, Congenital, 13
Muscle fiber tubular inclusions OMIM:614750
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Foot dorsiflexor weakness, Kyphosis, Scoliosis, Optic disc pallor, Respiratory insufficiency due ... OMIM:617087
Myasthenic Syndrome, Congenital, 14
High palate, Flexion contracture, Limb-girdle muscle weakness, Ragged-red muscle fibers, Hyperlor... OMIM:616228
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Increased endomysial connective tissue, Muscular dystrophy, Flexion contracture, Ankle flexion co... OMIM:617072
Miyoshi Muscular Dystrophy 1
Lower limb muscle weakness, Distal amyotrophy, Muscular dystrophy, Deposits immunoreactive to bet... OMIM:254130
Nemaline Myopathy 6
Nemaline bodies, Myopathy, Limb muscle weakness OMIM:609273
Distal Myopathy With Anterior Tibial Onset
Weakness of the intrinsic hand muscles, Intrinsic hand muscle atrophy, Limb-girdle muscle weaknes... ORPHA:178400
Tibial Muscular Dystrophy, Tardive
Rimmed vacuoles, Muscular dystrophy, EMG: myopathic abnormalities OMIM:600334
Congenital Muscular Dystrophy With Intellectual Disability
Spinal deformities, Multiple joint contractures, Abnormality of the tongue muscle, Reduced muscle... ORPHA:370968
Alpha-B Crystallin-Related Late-Onset Myopathy
Foot dorsiflexor weakness, Limb-girdle muscle weakness, Increased variability in muscle fiber dia... ORPHA:399058
Childhood-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Limb muscle weakness, Scoliosis, Arthrogryposis m... ORPHA:171439
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities OMIM:609283
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Myopathy ORPHA:1878
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Dystonia 31
Generalized dystonia, Leg dystonia, Craniofacial dystonia, Abnormal posturing, Writer's cramp, Ar... OMIM:619565
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Proximal amyotrophy, Myopathy, Muscle fiber splitting OMIM:618129
Distal Myopathy, Tateyama Type
Weakness of the intrinsic hand muscles, Intrinsic hand muscle atrophy, Increased variability in m... ORPHA:488650
Lethal Congenital Contracture Syndrome 5
Flexion contracture, Thin ribs, Respiratory insufficiency, Decreased nerve conduction velocity, E... OMIM:615368
Metatropic Dysplasia
Cupped ribs, Flared humeral metaphysis, Abnormal metaphyseal vascular invasion, Flared femoral me... OMIM:156530
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Talipes equinovarus, Paralysis, Contractures of the joints of the lower limbs, Skeletal muscle at... OMIM:613710
Myopathy, Distal, 1
High palate, Amyotrophy of ankle musculature, Weakness of long finger extensor muscles, Ragged-re... OMIM:160500
Merrf
Ragged-red muscle fibers, Myopathy ORPHA:551
Combined Oxidative Phosphorylation Deficiency 6
Skeletal muscle atrophy, Ragged-red muscle fibers, Involuntary movements, Fasciculations, Increas... OMIM:300816
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Internally nucl... OMIM:618654
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Flexion contracture, Muscle fiber splitting, Muscular dystrophy, Facial palsy, Rimmed vacuoles, S... OMIM:603511
Oculopharyngodistal Myopathy 3
Increased endomysial connective tissue, Increased variability in muscle fiber diameter, Generaliz... OMIM:619473
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Pelvic girdle amyotrophy, Abnormality of pelvic girdle bone morphology, Shoulder girdle muscle at... OMIM:167320
Zebra Body Myopathy
Nemaline bodies, Limb-girdle muscular dystrophy, Muscle fiber splitting, Muscle fiber necrosis, E... ORPHA:97240
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Type 2 muscle fiber atrophy, High palate, Scoliosis, Respiratory insufficiency due to muscle weak... OMIM:608930
Bethlem Myopathy 2
Flexion contracture, Kyphosis, Increased variability in muscle fiber diameter, Elevated circulati... OMIM:616471
Moderate Multiminicore Disease With Hand Involvement
Intrinsic hand muscle atrophy, Facial palsy, Type 1 muscle fiber predominance ORPHA:178145
Glycogen Storage Disease Ixb
Increased muscle glycogen content OMIM:261750
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Clinodactyly of the 5th finger, Abnormality of the philtrum, Abnormal rib morp... ORPHA:3268
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Limb-girdle muscular dystrophy, Reduced muscle fiber alpha dystroglycan, Ankle flexion contractur... ORPHA:280333
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Frequent falls, Flexion contracture, Kyphosis, Short neck, Increased variability in muscle fiber ... OMIM:300718
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Rimmed vacuoles, Calf muscle hypertrophy, Skeletal muscle atrophy OMIM:617760
Carnitine Deficiency, Myopathic
Reduced muscle carnitine level, Myopathy OMIM:212160
Pleoconial Myopathy With Salt Craving
Paralysis, Myopathy, Proximal amyotrophy OMIM:262900
Lethal Congenital Contracture Syndrome 7
Paralysis, Skeletal muscle atrophy, Knee flexion contracture, Arthrogryposis multiplex congenita,... OMIM:616286
Myasthenic Syndrome, Congenital, 6, Presynaptic
Type 2 muscle fiber atrophy, Fatigable weakness, Respiratory insufficiency due to muscle weakness... OMIM:254210
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Periodic hypokalemic paresis, Paralysis, Mildly elevated creatine kinase, F... ORPHA:681
Myotubular Myopathy With Abnormal Genital Development
High palate, Thin ribs, Atelectasis, Myopathy, Respiratory distress, Neonatal death, Death in inf... OMIM:300219
Neuronopathy, Distal Hereditary Motor, Type Viii
Kyphosis, Proximal lower limb amyotrophy, Hyperlordosis, Knee flexion contracture, Elevated circu... OMIM:600175
Finnish Upper Limb-Onset Distal Myopathy
Weakness of the intrinsic hand muscles, Amyotrophy of ankle musculature, Joint contracture of the... ORPHA:399086
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Type 2 muscle fiber atrophy, Limb muscle weakness, Fatigable weakness, Respiratory insufficiency ... OMIM:605809
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Achilles tendon contracture, Axial muscle atrophy, Decreased cervical spine flexion due to contra... ORPHA:254361
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Skeletal muscle atrophy, Pr... OMIM:619566
Myopathy, Myofibrillar, 2
Foot dorsiflexor weakness, Muscle fiber splitting, Limb-girdle muscle weakness, Muscular dystroph... OMIM:608810
Nemaline Myopathy 4
High palate, Nemaline bodies, Flexion contracture, Skeletal muscle atrophy, Facial diplegia, Limb... OMIM:609285
Scapuloperoneal Spinal Muscular Atrophy
Clinodactyly, Kyphosis, Muscle fiber splitting, Scapuloperoneal amyotrophy, Peroneal muscle atrop... OMIM:181405
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Increased variability in muscle fiber diameter, Rimmed vacuoles, Myopathy, Limb-girdle muscular d... OMIM:612937
Nemaline Myopathy 1
High palate, Nemaline bodies, Flexion contracture, Shoulder girdle muscle atrophy, EMG: myopathic... OMIM:609284
Typical Nemaline Myopathy
Genu varum, Increased variability in muscle fiber diameter, Fatiguable weakness of proximal limb ... ORPHA:171436
Nemaline Myopathy 5
Nemaline bodies, Proximal amyotrophy, Type 1 muscle fiber predominance, Shoulder flexion contract... OMIM:605355
Charcot-Marie-Tooth Disease Type 4A
Bilateral talipes equinovarus, Spinal deformities, Frequent falls, Restrictive ventilatory defect... ORPHA:99948
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Lower limb amyotrophy, Muscle fiber splitting, Lower limb muscle weakness, Ragged-red muscle fibe... OMIM:616924
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Minicore myopathy, Congenital muscular dystrophy, Proxim... ORPHA:598
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Limb-girdle muscle weakness, Muscular dystrophy, Limb muscle weakness, C... OMIM:616812
Parastremmatic Dwarfism
Short neck, Flexion contracture, Kyphosis, Scoliosis, Genu valgum OMIM:168400
Congenital Arthrogryposis With Anterior Horn Cell Disease
High palate, Kyphosis, Short neck, Skeletal muscle atrophy, Rocker bottom foot, Neonatal death, R... OMIM:611890
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Rimmed vacuoles, Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumu... OMIM:619518
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Paresis of extensor muscles of the big toe, Foot dorsiflexor weakness, Flexion contracture, Frequ... ORPHA:99947
Myopathy, Tubular Aggregate, 1
Weakness of the intrinsic hand muscles, Type 2 muscle fiber atrophy, Flexion contracture, Increas... OMIM:160565
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Myopathy OMIM:545000
Myopathy, Distal, 3
Muscular dystrophy, EMG: myopathic abnormalities, Distal amyotrophy, Rimmed vacuoles, Joint contr... OMIM:610099
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Thin ribs, Proximal muscle weakness in lower limbs, Abno... ORPHA:169189
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Clinodactyly, High palate, Flexion contracture, Kyphosis, Short neck, Increase... ORPHA:178148
Adult-Onset Nemaline Myopathy
Nemaline bodies, Flexion contracture, Lower limb muscle weakness, Increased variability in muscle... ORPHA:171442
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Dysmetria, Paralysis, Limb fasciculations, Dyspnea, Gait ataxia, Progressive cerebellar ataxia, D... OMIM:606183
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Dystonia, Increased intramyocellular lipid droplets OMIM:619065
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Achilles tendon contracture, Pelvic girdle muscle weakness, Foot dorsiflexor weakness, Myofibrill... OMIM:603689
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Increased variability in muscle fiber diameter, Death in childhood, Arthrogrypos... OMIM:619334
Amyotrophic Lateral Sclerosis 20
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles OMIM:615426
Synaptic Congenital Myasthenic Syndromes
Scoliosis, Hypoventilation, Scapular winging, Triangular mouth, High palate, Frequent falls, Skel... ORPHA:98915
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Ectopic anus, Abnormality of the vertebral column, Abnormal cran... ORPHA:2345
Amish Nemaline Myopathy
EMG: myopathic abnormalities, Proximal amyotrophy, Type 1 muscle fiber predominance, Shoulder fle... ORPHA:98902
Roussy-Lévy Syndrome
Frequent falls, Skeletal muscle atrophy, Lower limb muscle weakness, Intrinsic hand muscle atroph... ORPHA:3115
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Facial palsy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle wea... OMIM:300580
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in upper limbs, Tetraparesis, Abnormal lower motor neuron morphology, Sk... OMIM:613954
Central Core Disease
Nemaline bodies, Multiple joint contractures, Congenital hip dislocation, Type 1 muscle fiber pre... ORPHA:597
Dpm3-Cdg
Pelvic girdle muscle weakness, Muscular dystrophy, Rimmed vacuoles, Calf muscle hypertrophy ORPHA:263494
Mitochondrial Myopathy, Infantile, Transient
Muscle fiber hypertrophy, Ragged-red muscle fibers, Increased muscle lipid content, Macroglossia,... OMIM:500009
Nemaline Myopathy 3
High palate, Nemaline bodies, Frequent falls, EMG: myopathic abnormalities, Hyperlordosis, Mildly... OMIM:161800
Distal Nebulin Myopathy
Weakness of the intrinsic hand muscles, Nemaline bodies, Foot dorsiflexor weakness, Weakness of l... ORPHA:399103
Ullrich Congenital Muscular Dystrophy 1
High palate, Increased laxity of fingers, Flexion contracture, Kyphosis, Congenital muscular dyst... OMIM:254090
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Abnormal respiratory system physiology, Paralysis, Skeletal muscle atrophy,... ORPHA:803
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Abnormal form of the vertebral bodies, Sclerotic vertebral body, Diaphyseal... ORPHA:2790
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Absent muscle fiber emer... ORPHA:98863
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Type 2 muscle fiber atrophy, High palate, Fatigable weakness, Intermittent episodes of respirator... OMIM:601462
Distal Myotilinopathy
Abnormal muscle fiber myotilin, EMG: myopathic abnormalities, Multiple joint contractures, Distal... ORPHA:98911
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs, Increased varia... OMIM:618138
Nemaline Myopathy 11, Autosomal Recessive
High palate, Nemaline bodies, Pectus excavatum, Reduced vital capacity, Facial palsy, Talipes equ... OMIM:617336
Nemaline Myopathy 7
Minicore myopathy, High palate, Nemaline bodies, Frequent falls, Limb muscle weakness, Knee flexi... OMIM:610687
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Flexion contracture, Kyphosis, Skeletal muscle atrophy, Overlapping fingers, Congenital hip dislo... OMIM:618291
Bronchopulmonary Dysplasia
Abnormal respiratory system physiology, Emphysema, Respiratory failure requiring assisted ventila... ORPHA:70589
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Limb-girdle muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Macroglossia, Scapular w... OMIM:616052
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy ORPHA:238329
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Abnormal nerve conduction velocity, Ataxia, Scoliosis, Distal upper limb amyotrophy, Di... ORPHA:101075
Cap Myopathy
Lower limb amyotrophy, High palate, Thoracic scoliosis, Frequent falls, Lower limb muscle weaknes... ORPHA:171881
Charcot-Marie-Tooth Disease, Axonal, Type 2E
High palate, Ulnar claw, Nemaline bodies, Flexion contracture, Foot dorsiflexor weakness, Hammert... OMIM:607684
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Achilles tendon contracture, Frequent falls, Increased endomysial connective tissue, Increased va... ORPHA:353
Muscular Hypoplasia, Congenital Universal, Of Krabbe
Abnormal muscle fiber morphology, Hypoplasia of the musculature OMIM:159100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Achilles tendon contracture, Frequent falls, Kyphosis, Restrictive ventilatory defect, Congenital... OMIM:606612
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Absent muscle fiber emer... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Absent muscle fiber emer... ORPHA:98853
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Lower limb amyotrophy, Proximal muscle weakness in upper limbs, Progressive spastic paraplegia, T... ORPHA:496689
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Type 2 muscle fiber atrophy, High palate, Choreoathetosis, Generalized amyotrophy, Ankle flexion ... OMIM:617519
Nemaline Myopathy 8
Nemaline bodies, Flexion contracture, Facial palsy, Death in infancy, Myofibrillar myopathy OMIM:615348
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Paralysis, Extrapyramidal dyskinesia, Choreoathetosis, Apraxia, Ataxia, Spasticity, Hem... ORPHA:71277
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Muscular dystrophy, Ankle f... OMIM:613818
Oculopharyngodistal Myopathy
Proximal muscle weakness in upper limbs, High palate, Foot dorsiflexor weakness, Restrictive vent... ORPHA:98897
Myopathy, Myofibrillar, 6
Generalized amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Reduced forced vital ca... OMIM:612954
Myopathy, Proximal, With Ophthalmoplegia
Muscle fiber inclusion bodies, Myopathy, Scapular winging, Congenital contracture OMIM:605637
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle fiber splitting OMIM:609452
Mitochondrial Complex I Deficiency, Nuclear Type 25
Nemaline bodies, Intrauterine growth retardation, Myopathy OMIM:618246
Myopathy, Myofibrillar, 7
Achilles tendon contracture, Tongue atrophy, Nemaline bodies, Flexion contracture, Foot dorsiflex... OMIM:617114
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Spinal deformities, Flexion contracture, Vocal cord paresis, Decreased motor nerve conduction vel... OMIM:607706
Acute Peripheral Arterial Occlusion
Paralysis, Limb muscle weakness ORPHA:90064
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:617070
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Pelvic girdle muscle weakness, Abnormality of the Achilles tendon, Reduced muscle fiber alpha dys... ORPHA:34515
Metatropic Dysplasia
Kyphosis, Abnormal form of the vertebral bodies, Clinodactyly of the 5th finger, Narrow chest, Ab... ORPHA:2635
Myasthenic Syndrome, Congenital, 25, Presynaptic
Flexion contracture, Kyphosis, Generalized amyotrophy, Scoliosis, Myopathy, Spinal rigidity OMIM:618323
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Paralysis, Scoliosis OMIM:605285
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Weakness of muscles of respiration, Abnormality of the vertebral column, Abnormality of long bone... ORPHA:52430
Striatonigral Degeneration, Infantile, Mitochondrial
Incoordination, Paroxysmal choreoathetosis, Frequent falls, Ragged-red muscle fibers, Poor motor ... OMIM:500003
Glycogen Storage Disease 0, Muscle
Decreased muscle glycogen content, Left ventricular hypertrophy OMIM:611556
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy OMIM:607855
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Intestinal pseudo-obstr... OMIM:607459
Congenital Myopathy With Myasthenic-Like Onset
Minicore myopathy, Multiple joint contractures, EMG: myopathic abnormalities, Type 1 muscle fiber... ORPHA:424107
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Poland Syndrome
Hypoplasia of serratus anterior muscle, Absence of pectoralis minor muscle, Unilateral absence of... OMIM:173800
Adult-Onset Distal Myopathy Due To Vcp Mutation
Weakness of the intrinsic hand muscles, Foot dorsiflexor weakness, Frequent falls, Parkinsonism, ... ORPHA:329478
Diastrophic Dysplasia
Irregular epiphyses, Flattened epiphysis, Cervical kyphosis, Spinal cord compression, Kyphoscolio... OMIM:222600
Myopathic Ehlers-Danlos Syndrome
Tapered finger, Increased variability in muscle fiber diameter, High, narrow palate, Scoliosis, D... ORPHA:536516
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Coronal cleft vertebrae, Amelogenesis imperfecta, Scoliosis, Genu valgum, Cleft palate, Pierre-Ro... OMIM:618363
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Enlargement of the costochondral junction, Metaphyseal irregularity, Coxa valga, M... OMIM:609052
Brachyolmia Type 1, Hobaek Type
Kyphosis, Short neck, Short femoral neck, Intervertebral space narrowing, Back pain, Sclerotic fo... OMIM:271530
Acrocapitofemoral Dysplasia
Cupped ribs, Genu varum, Small finger, Delayed ossification of carpal bones, Cone-shaped metacarp... OMIM:607778
Ullrich Congenital Muscular Dystrophy 2
Facial palsy, Increased variability in muscle fiber diameter, Flexion contracture, Congenital mus... OMIM:616470
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Skeletal muscle atrophy, Ataxia, Decreased nerve conduction velocity, Scoliosis, Tremor ORPHA:101078
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Increased intramyocellular lipid droplets OMIM:612016
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Proximal muscle weakness in upper limbs, Abnormality of the vertebral column, Frequent falls, Fle... ORPHA:101097
Hereditary Motor And Sensory Neuropathy, Type Iic
Hand muscle atrophy, Foot dorsiflexor weakness, Hammertoe, Vocal cord paresis, Shoulder girdle mu... OMIM:606071
Congenital Muscular Dystrophy Without Intellectual Disability
Achilles tendon contracture, Frequent falls, Limb-girdle muscle atrophy, Congenital muscular dyst... ORPHA:370980
Bethlem Myopathy
Curved toe phalanx, Reduced muscle collagen VI, Scoliosis, Hypoventilation, Scapular winging, Fle... ORPHA:610
Dystonia 1, Torsion, Autosomal Dominant
Torsion dystonia, Blepharospasm, Torticollis, Writer's cramp, Abnormal posturing, Tremor OMIM:128100
Fetal Akinesia Deformation Sequence 4
High palate, Flexion contracture, Kyphosis, Short neck, Skeletal muscle atrophy, Rocker bottom fo... OMIM:618393
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue ORPHA:663
Creatine Phosphokinase, Elevated Serum
Inflammatory myopathy, Muscular dystrophy, EMG: myopathic abnormalities, Myopathy, Abnormal muscl... OMIM:123320
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Spastic tetraparesis, Abnormal pelvis bone morphology, Abnormality ... ORPHA:239
Idiopathic Camptocormia
Fatigable weakness of skeletal muscles, Myositis, Abnormal muscle fiber dysferlin, Syringomyelia,... ORPHA:1320
Spastic Paraplegia 20, Autosomal Recessive
Brachydactyly, Clinodactyly, Dysmetria, Flexion contracture, Spastic gait, Hammertoe, Upper limb ... OMIM:275900
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
High palate, Respiratory failure requiring assisted ventilation, Ragged-red muscle fibers, Decrea... ORPHA:254864
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Proximal femoral metaphyseal irregularity, Hip dysplasia, Bowing of the legs, Widened... ORPHA:174
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Ragged-red muscle fibers, Generalized amyotrophy, EMG: myopathic abnormalities, Limb muscle weakn... OMIM:609560
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Clinodactyly of the 5th finger, Short thumb, Camptodactyly, Overlapping toe OMIM:618453
Hereditary Neuropathy With Liability To Pressure Palsies
Respiratory insufficiency, Decreased motor nerve conduction velocity, Vocal cord paralysis, Scoli... ORPHA:640
Gm1-Gangliosidosis, Type Iii
Kyphosis, Skeletal muscle atrophy, Flared iliac wing, Hypoplastic acetabulae, Anterior beaking of... OMIM:230650
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Absent muscle fiber emer... ORPHA:98855
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia, Clinodactyly of the 5th finger, Scoliosis, Small hand, Thin upper lip vermilion, Sca... OMIM:170390
Spondylometaphyseal Dysplasia, Kozlowski Type
Genu varum, Coronal cleft vertebrae, Abnormal ilium morphology, Abnormality of the vertebral colu... ORPHA:93314
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal hip bone morphology, Abnormal palate morphology, Skeletal muscle atrophy, Clinodactyly o... ORPHA:3068
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy OMIM:616816
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Abnormal skeletal muscle morphology, Increased variabilit... ORPHA:98905
Spondylometaphyseal Dysplasia, X-Linked
Kyphosis, Tapered finger, Thoracolumbar scoliosis, Respiratory failure, Platyspondyly, Knee flexi... OMIM:313420
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers OMIM:616794
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Abnormal rib morphology, Mesomelic/rhizomelic li... ORPHA:1354
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Skeletal muscle atrophy, Vocal cord paresis, Limb muscle weakness, Decreased motor nerve conducti... OMIM:614895
Autosomal Recessive Progressive External Ophthalmoplegia
Action tremor, Parkinsonism with favorable response to dopaminergic medication, Ragged-red muscle... ORPHA:254886
Rigid Spine Muscular Dystrophy 1
Minicore myopathy, High palate, Restrictive ventilatory defect, Flexion contracture, Nocturnal hy... OMIM:602771
Brown-Vialetto-Van Laere Syndrome 1
Tongue atrophy, Hand muscle atrophy, Kyphosis, Nocturnal hypoventilation, Vocal cord paralysis, A... OMIM:211530
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Lower limb muscle weakness, Increased variability in muscle fiber diameter, EMG: myopathic abnorm... ORPHA:397744
Acromesomelic Dysplasia, Maroteaux Type
Brachydactyly, Acromesomelia, Bowing of the long bones, Kyphosis, Ovoid vertebral bodies, Abnorma... ORPHA:40
Wieacker-Wolff Syndrome
Long philtrum, Scoliosis, Arthrogryposis multiplex congenita, Narrow chest, Hip dislocation, High... OMIM:314580
Snakebite Envenomation
Rhabdomyolysis, Paralysis, Hyponatremia, Muscle fiber necrosis, Gingival bleeding, Respiratory fa... ORPHA:449285
Spastic Paraplegia Type 7
Abnormal pyramidal sign, Spastic gait, Lower limb muscle weakness, Ragged-red muscle fibers, Slow... ORPHA:99013
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Short thorax, Kyphosis, Abnormal form of the vertebral bodies, Long philtrum, ... ORPHA:2311
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Abnormal nerve conduction velocity, Ataxia, Paraparesis, Scoliosis, Skeletal muscle hyp... ORPHA:99014
Brown-Vialetto-Van Laere Syndrome 2
Generalized amyotrophy, Ataxia, Respiratory insufficiency, Limb muscle weakness, Kyphoscoliosis, ... OMIM:614707
Axial Spondylometaphyseal Dysplasia
Cupped ribs, Acromesomelia, Abnormal ilium morphology, Delayed ossification of carpal bones, Apla... ORPHA:168549
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Limb-girdle muscular dystrophy, Muscular dystrophy, Hyperlordosis, Myopathy, Chorea, Abnormal cir... ORPHA:369840
Classic Multiminicore Myopathy
High palate, Restrictive ventilatory defect, Right ventricular hypertrophy, Congenital muscular d... ORPHA:324604
Dyggve-Melchior-Clausen Disease
Genu varum, Clinodactyly of the 5th finger, Rhizomelic arm shortening, Hypoplastic iliac wing, Sc... OMIM:223800
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Thoracic scoliosis, Thoracic kyphosis, Absent muscle dystrophin expression, Abnormality of the sh... ORPHA:206546
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Skeletal muscle atrophy ORPHA:480
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Proximal muscle weakness in upper limbs, Skeletal muscle atrophy, Hypoglycosylation of alpha-dyst... ORPHA:352479
Diastrophic Dysplasia
Bowing of the long bones, Symphalangism affecting the phalanges of the hand, Kyphosis, Abnormal f... ORPHA:628
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Flexion contracture, Pneumonia, Skeletal muscle atrophy, Muscle f... OMIM:253700
Glut1 Deficiency Syndrome 1
Paralysis, Choreoathetosis, Ataxia, Spasticity, Hemiparesis, Babinski sign, Myoclonus OMIM:606777
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Congenital muscular dystrophy, Aspiration, Absent muscle fiber merosin, Macroglossia, Scoliosis, ... ORPHA:258
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Froment sign, Hand muscle weakness, Vocal cord paralysis OMIM:162500
Roussy-Levy Hereditary Areflexic Dystasia
Action tremor, Hammertoe, Gait ataxia, Decreased motor nerve conduction velocity, Distal amyotrop... OMIM:180800
Anauxetic Dysplasia 2
Brachydactyly, Coxa valga, Flexion contracture, Hypoplasia of the femoral head, Short femoral nec... OMIM:617396
Waardenburg Syndrome Type 3
Synostosis of carpal bones, Tracheomalacia, Spastic paraplegia, Tented upper lip vermilion, Atele... ORPHA:896
Bronchogenic Cyst
Abnormal stomach morphology, Syringomyelia, Pneumonia, Abnormality of the cervical spine, Abnorma... ORPHA:2357
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Parkinsonism, Muscle fiber necrosis, Ragged-red muscle fibers, Generalized amyotrophy, Increased ... OMIM:258450
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Cone-shaped capital femoral epiphysis, Metaphyseal widening, Brachydactyly, High palate, Thoracic... OMIM:300232
Neutral Lipid Storage Disease With Myopathy
Increased muscle lipid content, Myopathy OMIM:610717
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Aplasia/Hypoplasia of the fibula, Clinodactyly of the 5th finger, Abnormal sca... ORPHA:2141
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers OMIM:619024
Intermediate Nemaline Myopathy
Nemaline bodies, Flexion contracture, Long philtrum, Skeletal muscle atrophy, Respiratory failure... ORPHA:171433
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Anterior atlanto-occipital dislocation, Long philtrum, Tracheomalacia, Microdontia, Scoliosis, Ha... ORPHA:536467
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Type 2 muscle fiber atrophy, High palate, Dental malocclusion, Skeletal muscle atrophy, Fatigable... OMIM:608931
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Achilles tendon contracture, Decreased cervical spine flexion due to contractures of posterior ce... OMIM:310300
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, Scoliosis, Hemivertebrae, Hip dislocation, High palate, Short n... ORPHA:958
Craniofrontonasal Dysplasia
Brachydactyly, Congenital pseudoarthrosis of the clavicle, High palate, Finger syndactyly, Abnorm... ORPHA:1520
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Clinodactyly of the 5th finger, Congenital foot contractures, Scoliosis, Distal amyotro... ORPHA:3454
Rhizomelic Chondrodysplasia Punctata, Type 5
Narrow iliac wing, Metaphyseal irregularity, Thoracic scoliosis, Irregular capital femoral epiphy... OMIM:616716
Congenital Myasthenic Syndrome
Central sleep apnea, Arthrogryposis multiplex congenita, Cyanosis, High palate, EMG: myopathic ab... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Central sleep apnea, Arthrogryposis multiplex congenita, Cyanosis, High palate, EMG: myopathic ab... ORPHA:98914
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Becker Nevus Syndrome
Supernumerary ribs, Kyphosis, Shoulder girdle muscle atrophy, Pectus excavatum, Micromelia, Scoli... ORPHA:64755
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure, Paralysis ORPHA:132
Laing Early-Onset Distal Myopathy
Minicore myopathy, High palate, Foot dorsiflexor weakness, Talipes cavus equinovarus, Proximal mu... ORPHA:59135
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Abnormal pyramidal sign, Dysmetria, Kyphosis, Abnormality of the cervical spine, Intention tremor... ORPHA:48431
Asbestos Intoxication
Cyanosis, Nonproductive cough, Restrictive ventilatory defect, Ground-glass opacification, Hypoxe... ORPHA:2302
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Type 2 muscle fiber predominance OMIM:619028
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Increased variability in muscle fiber diameter, Myopathy, Pelvic girdle muscle weakness, Calf mus... ORPHA:119
Hyperkalemic Periodic Paralysis
Hypokalemia, Flexion contracture, Periodic hyperkalemic paralysis, Hyponatremia, Skeletal muscle ... ORPHA:682
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal hip bone morphology, Tooth agenesis, Congenital diaphragmatic hernia, Abnormality of low... ORPHA:1166
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Left ventricular noncompaction, Flexion contracture, Dystonia, Ragged-red muscle fibers, Abnormal... OMIM:252011
Zimmermann-Laband Syndrome 3
Aplasia of the distal phalanx of the 5th toe, Clinodactyly, High palate, Bifid uvula, Flexion con... OMIM:618658
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Missing ribs, Short thorax, Abnormal form of the ... ORPHA:1801
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia, Myopathy, Periodic paralysis OMIM:613345
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal thumb morphology, Triphalangeal thumb, Short thumb, Respiratory insufficiency, Abnormal ... ORPHA:1120
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Kyphosis, Ragged-red muscle fibers, Generalized amyotrophy, Respiratory failure, Dyspnea, Elevate... ORPHA:352447
Fibrosis Of Extraocular Muscles, Congenital, 3C
Thin upper lip vermilion, Pectus excavatum, Kyphosis, Congenital fibrosis of extraocular muscles OMIM:609384
Spastic Paraplegia 46, Autosomal Recessive
Spastic gait, Kyphosis, Upper limb spasticity, Lower limb muscle weakness, Head tremor, Upper lim... OMIM:614409
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Myopathy OMIM:125250
Pseudoachondroplasia
Genu varum, Flared femoral metaphysis, Scoliosis, Irregular carpal bones, Metaphyseal widening, F... OMIM:177170
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers, Upper limb postural tremor ORPHA:477774
Multiple Epiphyseal Dysplasia With Robin Phenotype
Fibular hypoplasia, Scoliosis, Genu valgum, Cleft palate, Brachydactyly, Flat capital femoral epi... OMIM:601560
Sprengel Deformity
Shoulder muscle hypoplasia, Scoliosis, Sprengel anomaly, Neck muscle hypoplasia, Spina bifida occ... OMIM:184400
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Achilles tendon contracture, Pelvic girdle muscle weakness, Frequent falls, Kyphosis, Nocturnal h... OMIM:607155
Jeune Syndrome
Brachydactyly, Toe syndactyly, Abnormality of pelvic girdle bone morphology, Postaxial foot polyd... ORPHA:474
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Dysosteosclerosis
Narrow iliac wing, Hypoplastic vertebral bodies, Broad femoral neck, Sclerotic scapulae, Narrow c... OMIM:224300
Horner Syndrome, Congenital
Congenital Horner syndrome, Paralysis OMIM:143000
Cooper-Jabs Syndrome
Abnormal hip bone morphology, Missing ribs, Respiratory insufficiency, Abnormal rib morphology, C... ORPHA:1488
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Flexion contracture, Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Art... OMIM:616867
Myotonia With Skeletal Abnormalities And Mental Retardation
Firm muscles, Vertebral wedging, Irregular femoral epiphysis, Skeletal muscle hypertrophy, Bell-s... OMIM:255710
Fibrochondrogenesis 1
Long philtrum, Fibular hypoplasia, Posterior vertebral hypoplasia, Clinodactyly of the 5th finger... OMIM:228520
Vocal Cord And Pharyngeal Distal Myopathy
Abnormality of the extraocular muscles, Aspiration, Vocal cord paresis, Mildly elevated creatine ... ORPHA:600
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Frontometaphyseal Dysplasia 1
Long phalanx of finger, Increased density of long bone diaphyses, Scoliosis, Scapular winging, Ge... OMIM:305620
Mesomelic Dysplasia, Kantaputra Type
Synostosis of carpal bones, Vertebral segmentation defect, Clinodactyly of the 5th finger, Abnorm... ORPHA:1836
Greig Cephalopolysyndactyly Syndrome
Postaxial foot polydactyly, Joint contracture of the hand, Broad hallux, Preaxial hand polydactyl... OMIM:175700
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Limb-girdle muscular dystrophy, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrop... ORPHA:206559
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Oligodontia, Tapered finger, Everted lower lip vermilion, Pectus excavatum, Scoliosis, ... ORPHA:276630
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Paralysis, Parkinsonism OMIM:105500
Spondylometaphyseal Dysplasia, Axial
Recurrent pneumonia, Anterior rib cupping, Short femoral neck, Rhizomelia, Proximal femoral metap... OMIM:602271
Mitochondrial Dna Depletion Syndrome 11
Kyphosis, Generalized amyotrophy, Proximal amyotrophy, Respiratory insufficiency, Dyspnea, Elevat... OMIM:615084
3M Syndrome
Horizontal ribs, Long philtrum, Clinodactyly of the 5th finger, Everted lower lip vermilion, Micr... ORPHA:2616
Juvenile Amyotrophic Lateral Sclerosis
Hypertonia, Parkinsonism, Opisthotonus, Skeletal muscle atrophy, Contractures of the joints of th... ORPHA:300605
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Increased muscle glycogen content, Skeletal muscle atrophy ORPHA:371
Poliomyelitis
Paralysis, Respiratory failure requiring assisted ventilation, Abnormal motor nerve conduction ve... ORPHA:2912
Short-Rib Thoracic Dysplasia 12
Horizontal ribs, Hamartoma of tongue, Short toe, Median cleft lip and palate, Narrow chest, Brach... OMIM:269860
Femoral-Facial Syndrome
Vertebral segmentation defect, Abnormal sacrum morphology, Abnormality of pelvic girdle bone morp... ORPHA:1988
Sialidosis Type 2
Flexion contracture, Short thorax, Kyphosis, Skeletal muscle atrophy, Ataxia, Dyspnea, Pectus car... ORPHA:87876
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Cupped ribs, Brachydactyly, Broad toe, Hypoplastic pubic bone, Delayed ossification of carpal bon... OMIM:609616
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Short philtrum, Short neck, Abnormality of epiphysis morphology, Rhizom... ORPHA:93267
Crisponi Syndrome
Narrow mouth, High palate, Kyphosis, Flexion contracture, Long philtrum, Respiratory insufficienc... ORPHA:1545
8p23.1 deletion syndrome
Congenital diaphragmatic hernia DECIPHER:39
Acute Interstitial Pneumonia
Cyanosis, Pulmonary infiltrates, Reticulonodular pattern on pulmonary HRCT, Nonproductive cough, ... ORPHA:79126
Mosaic Trisomy 14
High palate, Ectopic anus, Short neck, Narrow chest, Abnormal rib morphology, Camptodactyly of fi... ORPHA:1703
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis OMIM:612740
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed ossification of carpal bones, Abnormal rib cage morphology, Scoliosis, Narrow greater sci... OMIM:184252
Mohr-Tranebjaerg Syndrome
Dystonia, Abnormal posturing, Tremor OMIM:304700
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
High palate, Respiratory failure requiring assisted ventilation, Flexion contracture, Long philtr... OMIM:619026
Congenital Disorder Of Glycosylation, Type Iig
Pierre-Robin sequence, Vertebral segmentation defect, High palate, Short neck, Rhizomelia, Abnorm... OMIM:611209
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Cupped ribs, Brachydactyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Ovoid vertebral ... OMIM:608940
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Mitochondrial Myopathy And Sideroblastic Anemia
High palate, Kyphosis, Long philtrum, Generalized limb muscle atrophy, Scoliosis, Myopathy ORPHA:2598
Severe Congenital Nemaline Myopathy
Nemaline bodies, Flexion contracture, Skeletal muscle atrophy, Abnormality of the diaphragm, Thin... ORPHA:171430
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Short neck, Abnormality of limb bone morphology, Abnormal rib mo... OMIM:118100
Acromesomelic Dysplasia 2A
Acromesomelia, Hypoplasia of the ulna, Flexion contracture, Valgus hand deformity, Fibular hypopl... OMIM:200700
Arthrogryposis, Distal, Type 3
Distal arthrogryposis, Bifid uvula, Abnormal rib cage morphology, Ulnar deviation of the hand or ... OMIM:114300
Craniodiaphyseal Dysplasia, Autosomal Dominant
Diaphyseal sclerosis, Papilledema, Facial diplegia, Optic atrophy, Thickened ribs OMIM:122860
Coffin-Lowry Syndrome
Narrow iliac wing, Tapered finger, Everted lower lip vermilion, Widely spaced teeth, Scoliosis, L... ORPHA:192
Fibrochondrogenesis
Brachydactyly, Narrow mouth, Short neck, Abnormal form of the vertebral bodies, Short ribs, Narro... ORPHA:2021
Craniodiaphyseal Dysplasia
Diaphyseal thickening, Optic atrophy, Abnormal rib morphology ORPHA:1513
Cartilage-Hair Hypoplasia
Abnormal hip bone morphology, Abnormal distal phalanx morphology of finger, Abnormal rib morpholo... ORPHA:175
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Narrow mouth, Slender finger, Short philtrum, Kyphosis, Long philtrum, Abnormality of the dentiti... OMIM:618443
Glycogen Storage Disease Due To Aldolase A Deficiency
Viral infection-induced rhabdomyolysis, Skeletal myopathy, EMG: myopathic abnormalities, Decrease... ORPHA:57
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Nemaline bodies, Cervical vertebral bodies with decreased ant... OMIM:606842
Japanese Encephalitis
Opisthotonus, Excessive salivation, Abnormal pattern of respiration, Cogwheel rigidity, Respirato... ORPHA:79139
Familial Cervical Artery Dissection
Facial palsy, Paralysis ORPHA:36382
Lethal Congenital Contracture Syndrome Type 1
Abnormal hip bone morphology, Short neck, Abnormal form of the vertebral bodies, Skeletal muscle ... ORPHA:1486
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Short palm, Abnormality of epiphysis morphology, Short metacarpal, Up... ORPHA:93351
Desbuquois Dysplasia 1
Genu varum, Long philtrum, Broad first metatarsal, Sandal gap, Broad femoral neck, Scoliosis, Sho... OMIM:251450
Wieacker-Wolff Syndrome, Female-Restricted
Achilles tendon contracture, Flexion contracture, Kyphosis, Long philtrum, Drooling, Rocker botto... OMIM:301041
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Aspiration, Increased variability in muscle fiber diamete... OMIM:606070
Huntington Disease-Like 1
Incoordination, Simultanapraxia, Dysmetria, Frequent falls, Involuntary movements, Bradykinesia, ... ORPHA:157941
Autism Spectrum Disorder Due To Auts2 Deficiency
Narrow mouth, Short philtrum, Repetitive compulsive behavior, Hypertonia, Kyphosis, Motor stereot... ORPHA:352490
Winchester Syndrome
Kyphosis, Carpal osteolysis, Broad metacarpals, Osteolysis involving tarsal bones, Gingival overg... OMIM:277950
Greig Cephalopolysyndactyly Syndrome
Toe syndactyly, Finger syndactyly, Postaxial foot polydactyly, Congenital diaphragmatic hernia, P... ORPHA:380
Renpenning Syndrome
Narrow mouth, Short philtrum, Abnormal thumb morphology, Skeletal muscle atrophy, Clinodactyly of... ORPHA:3242
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Cdkl5-Deficiency Disorder
Abnormal respiratory system physiology, Kyphosis, Broad proximal phalanges of the hand, Stereotyp... ORPHA:505652
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Tongue atrophy, Lower limb muscle weakness, Proximal mus... ORPHA:99956
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Pulmonary infiltrates, Parenchymal consolidation, Restrictive ventilatory defect, Hypoxemia, Chor... OMIM:610978
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Recurrent pneumonia, Atelectasis, Right ventricular hypertrophy OMIM:268500
Spinocerebellar Ataxia Type 3
Abnormal pyramidal sign, Skeletal muscle atrophy, Vocal cord paralysis, Progressive cerebellar at... ORPHA:98757
Xp22.13P22.2 Duplication Syndrome
High palate, Short neck, 2-3 toe syndactyly, Tapered finger, Congenital diaphragmatic hernia, Pec... ORPHA:284180
Uruguay Faciocardiomusculoskeletal Syndrome
Kyphosis, Joint contracture of the hand, Congenital hip dislocation, Everted lower lip vermilion,... OMIM:300280
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Genu varum, Scoliosis, Fragmented epiphyses, Genu valgum, Abnormal metatarsal morphology, Hip dis... ORPHA:93360
Combined Oxidative Phosphorylation Deficiency 12
Ragged-red muscle fibers, Dystonia OMIM:614924
Thanatophoric Dysplasia, Type Ii
Brachydactyly, Metaphyseal irregularity, Short greater sciatic notch, Short ribs, Wide-cupped cos... OMIM:187601
Ataxia-Oculomotor Apraxia Type 4
Abnormality of toe, Muscular dystrophy, Oculomotor apraxia, Ataxia, Kyphoscoliosis, Distal lower ... ORPHA:459033
Developmental Malformations-Deafness-Dystonia Syndrome
Achalasia, Kyphosis, Hypoplastic scapulae, Macroglossia, Micromelia, Scoliosis, Oral cleft, Death... ORPHA:79107
Multiple Pterygium-Malignant Hyperthermia Syndrome
Long philtrum, Tapered finger, Exaggerated cupid's bow, Abnormal rib morphology, Scoliosis, Arthr... ORPHA:2215
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Irregular epiphyses, Narrow iliac wing, Bowing of the legs, Hypoplastic pubic bone, Ovoid vertebr... OMIM:608728
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Metaphyseal sclerosis, Broad femoral neck, Distal tibial bowing, Scoliosis, Metaphyse... OMIM:156500
Autosomal Dominant Spondylocostal Dysostosis
Abnormal sacrum morphology, Missing ribs, Short neck, Short thorax, Posterior rib fusion, Hyperlo... ORPHA:1797
Stuve-Wiedemann Syndrome 1
Smooth tongue, Scoliosis, Short tibia, Bowing of the long bones, Short neck, Metaphyseal rarefact... OMIM:601559
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Metaphyseal irregularity, Hypoplastic pubic bone, Anterior rib cupping, Delayed pu... OMIM:184250
Glycogen Storage Disease Due To Acid Maltase Deficiency
Lower limb muscle weakness, Macroglossia, Scoliosis, Left ventricular hypertrophy, Difficulty in ... ORPHA:365
Mitochondrial Complex I Deficiency, Nuclear Type 11
Scoliosis, Myopathy, Kyphosis OMIM:618234
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Ragged-red muscle fibers, Left ventricular hypertrophy, Myopathy OMIM:540000
Spondylocostal Dysostosis 4, Autosomal Recessive
Missing ribs, Myelomeningocele, Short thorax, Block vertebrae, Restrictive ventilatory defect, Ab... OMIM:613686
Sporadic Infantile Bilateral Striatal Necrosis
Dystonia, Resting tremor, Hypomimic face, Titubation, Abnormal posturing ORPHA:225147
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Flexion contracture, Kyphosis, Spastic paraplegia, Scoliosis, Optic disc pallor, Distal amyotroph... OMIM:609541
15Q24 Microdeletion Syndrome
Abnormality of toe, Clinodactyly, Abnormal thumb morphology, Brachydactyly, Myelomeningocele, Kyp... ORPHA:94065
Farber Disease
Flexion contracture, Skeletal muscle atrophy, Paraparesis, Atelectasis, Spasticity, Short finger,... ORPHA:333
Schwartz-Jampel Syndrome
Abnormally straight spine, Long philtrum, Everted lower lip vermilion, Abnormal rib morphology, P... ORPHA:800
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Aplasia/Hypoplasia of the tongue, Missing ribs, Abnormal form of the vertebral bodies, Clinodacty... ORPHA:2759
Masa Syndrome
Kyphosis, Lower limb spasticity, Spastic paraplegia, Hyperlordosis, Adducted thumb, Paraplegia, T... OMIM:303350
Schneckenbecken Dysplasia
Brachydactyly, Advanced ossification of carpal bones, Metaphyseal irregularity, Anterior rib cupp... OMIM:269250
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Lower limb spasticity, Ataxia, Lumbar hyperlordosis, Scoliosis, Talipes equinovarus, Hi... OMIM:616756
Alpha-Mannosidosis
Bowing of the long bones, Hypoplastic inferior ilia, Kyphosis, Short neck, Open bite, Widely spac... ORPHA:61
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Prolonged miniature endplate currents, Decreased miniature endplate potentials, Respiratory insuf... OMIM:616321
Myofibrillar Myopathy 10
Kyphosis, Sandal gap, EMG: myopathic abnormalities, Ankle flexion contracture, Knee flexion contr... OMIM:619040
Mucopolysaccharidosis, Type Iva
Widely spaced teeth, Pointed proximal second through fifth metacarpals, Scoliosis, Metaphyseal wi... OMIM:253000
Spondyloepimetaphyseal Dysplasia, Irapa Type
Enlargement of the costochondral junction, Hypoplastic sacrum, Short palm, Short metacarpal, Uppe... OMIM:271650
Charcot-Marie-Tooth Disease Type 4C
Tongue atrophy, Foot dorsiflexor weakness, Frequent falls, Drooling, Hammertoe, Optic atrophy, Vo... ORPHA:99949
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Brachydactyly, Kyphosis, Sandal gap, Thick lower lip vermilion, Macroglossia, Gait ataxia, Wide m... OMIM:300354
Richieri Costa-Da Silva Syndrome
Decreased anterioposterior diameter of lumbar vertebral bodies, Vertebral wedging, Beaking of ver... ORPHA:3101
Achondroplasia
Hypoxemia, Hip joint hypermobility, Central sleep apnea, Spinal canal stenosis, Narrow greater sc... ORPHA:15
Mucopolysaccharidosis Type 6
Sinusitis, Ovoid vertebral bodies, Kyphosis, Short neck, Thick lower lip vermilion, Macroglossia,... ORPHA:583
Mucopolysaccharidosis, Type Ivb
Widely spaced teeth, Pointed proximal second through fifth metacarpals, Scoliosis, Metaphyseal wi... OMIM:253010
Cutis Laxa-Marfanoid Syndrome
Emphysema, Flexion contracture, Congenital diaphragmatic hernia, Arachnodactyly, Hip dislocation ORPHA:171719
Three M Syndrome 2
Clinodactyly, High palate, Thick vermilion border, Short neck, Short thorax, Long philtrum, Delay... OMIM:612921
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Congenital muscular dystrophy ORPHA:1875
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Spinocerebellar tract degeneration, Abnormal pyramidal si... ORPHA:276244
Mucopolysaccharidosis Type 4
Bowing of the long bones, Coxa valga, Short thorax, Abnormality of epiphysis morphology, Kyphosis... ORPHA:582
Variegate Porphyria
Paralysis OMIM:176200
Spondylocostal Dysostosis 3, Autosomal Recessive
Slender finger, Kyphosis, Hypoplasia of the odontoid process, Supernumerary vertebral ossificatio... OMIM:609813
Combined Oxidative Phosphorylation Defect Type 13
Type 2 muscle fiber atrophy, Intrauterine growth retardation, Ankle flexion contracture, Limb dys... ORPHA:319514
Arnold-Chiari Malformation Type I
Cervical C2/C3 vertebral fusion, Syringomyelia, Vocal cord paralysis, Abnormality of the musculat... ORPHA:268882
Spondyloepiphyseal Dysplasia Congenita
Abnormal respiratory system physiology, Spinal cord compression, Scoliosis, Genu valgum, Cleft pa... ORPHA:94068
Idiopathic Chronic Eosinophilic Pneumonia
Nonproductive cough, Parenchymal consolidation, Restrictive ventilatory defect, Hypoxemia, Asthma... ORPHA:2902
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Absent ossification of capital femoral epiphysis, Narrow mouth, Cervical kyphosis, High palate, F... OMIM:245160
Cleidocranial Dysplasia
Abnormal thumb morphology, Open bite, Clinodactyly of the 5th finger, Tapered finger, Abnormal ri... ORPHA:1452
Mucopolysaccharidosis, Type Vi
Cervical myelopathy, Metaphyseal irregularity, Ovoid vertebral bodies, Flared iliac wing, Split h... OMIM:253200
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Bronchiectasi... OMIM:615294
Mullegama-Klein-Martinez Syndrome
Short philtrum, Long philtrum, Clinodactyly of the 5th finger, Congenital diaphragmatic hernia, P... OMIM:301022
Sialidosis Type 1
Kyphosis, Short thorax, Abnormal form of the vertebral bodies, Skeletal muscle atrophy, Thick low... ORPHA:812
Rabies
Vocal cord paresis, Excessive salivation, Cerebral palsy ORPHA:770
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Clonus, Upper limb hypertonia, Pectus carinatum ORPHA:319199
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal hip bone morphology, Kyphosis, Short neck, Spinal cord compression, Hyperlordosis, Abnor... ORPHA:2522
Mucopolysaccharidosis, Type X
Posterior scalloping of vertebral bodies, Spatulate ribs, Left ventricular hypertrophy, Long phil... OMIM:619698
Proximal 16P11.2 Microduplication Syndrome
Congenital diaphragmatic hernia, Arachnodactyly, Scoliosis, Smooth philtrum, Thin upper lip vermi... ORPHA:370079
Immune-Mediated Necrotizing Myopathy
Myositis, Skeletal muscle atrophy, Muscle fiber necrosis, Proximal muscle weakness in lower limbs... ORPHA:206569
Mcdonough Syndrome
Short philtrum, Abnormal palate morphology, Kyphosis, Open bite, Pectus excavatum, Scoliosis, Apl... ORPHA:2471
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Metaphyseal irregularity, Short greater sciatic notch, Short ribs, Wide... OMIM:187600
Lopes-Maciel-Rodan Syndrome
Abnormal pyramidal sign, Hypertonia, Kyphosis, Bradykinesia, Tremor, Scoliosis, Spasticity, Small... OMIM:617435
Tick-Borne Encephalitis
Incoordination, Paralysis, Abnormal cranial nerve morphology, Skeletal muscle atrophy, Tremor, Ab... ORPHA:297
Lethal Congenital Contracture Syndrome 1
Skeletal muscle atrophy, Widening of cervical spinal canal, Abnormal thorax morphology, Paucity o... OMIM:253310
Mitochondrial Complex I Deficiency, Nuclear Type 15
Flexion contracture, Kyphosis, Spastic tetraplegia, Myopathy, Optic atrophy OMIM:618237
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis, Limb muscle weakness, Skeletal muscle atrophy OMIM:612300
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Brachydactyly, Kyphosis, Delayed ossification of carpal bones, Pectus carinatum OMIM:618392
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Spinal cord compression, Micromelia, Scoliosis, Broad long bones, Bowing of the legs, High palate... OMIM:271665
Smith-Mccort Dysplasia 1
Irregular epiphyses, Genu varum, Metaphyseal irregularity, Atlantoaxial instability, Kyphosis, Sh... OMIM:607326
Hurler Syndrome
Abnormal pyramidal sign, Short neck, Abnormality of epiphysis morphology, Abnormal nerve conducti... ORPHA:93473
Atypical Rett Syndrome
Kyphosis, Pill-rolling tremor, Apraxia, Stereotypical hand wringing, Involuntary movements, Episo... ORPHA:3095
Holt-Oram Syndrome
Absent thumb, Finger syndactyly, Phocomelia, Kyphosis, Triphalangeal thumb, Abnormal rib morpholo... ORPHA:392
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Tracheomalacia, Decreased muscle mass, Vocal cord paralysis, Knee flexion contracture, Respirator... OMIM:615490
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Cupped ribs, Carpal synostosis, Long philtrum, 11 pairs of ribs, Spinal cord compression, Abnorma... OMIM:271640
Hypophosphatasia
Bowing of the long bones, Emphysema, Hypercalcemia, Abnormality of the dentition, Respiratory ins... ORPHA:436
Proximal 16P11.2 Microdeletion Syndrome
Syringomyelia, Choreoathetosis, Motor stereotypy, Paroxysmal dyskinesia, Hand polydactyly, Congen... ORPHA:261197
Acrocallosal Syndrome
Triphalangeal thumb, Abnormal clavicle morphology, Congenital diaphragmatic hernia, Postaxial han... ORPHA:36
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Toe syndactyly, Abnormal palate morphology, Kyphosis, Metatarsus valgus, Abnormality of epiphysis... ORPHA:3082
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, High palate, Nemaline bodies, Flexion contracture, Long philtrum... OMIM:616549
Poland Syndrome
Aplasia/Hypoplasia of the sternum, Abnormality of the ulna, Missing ribs, Finger symphalangism, A... ORPHA:2911
Bruck Syndrome 1
Kyphosis, Vertebral wedging, Ankle flexion contracture, Platyspondyly, Knee flexion contracture, ... OMIM:259450
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Arachnodactyly, Congenital diaphragmatic hernia, Hip dislocation, Emphysema OMIM:614100
Intellectual Developmental Disorder, Autosomal Dominant 26
Narrow mouth, Thick vermilion border, Short philtrum, Kyphosis, Cerebral palsy, Scoliosis, Wide m... OMIM:615834
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Rhabdomyolysis, Resting tremor, Skeletal muscle atrophy, Muscle fiber necrosis, Ragged-red muscle... OMIM:157640
Multiple Pterygium Syndrome, Escobar Variant
Long philtrum, Scoliosis, Camptodactyly of toe, Arthrogryposis multiplex congenita, Cleft palate,... OMIM:265000
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Vocal cord paresis, Limb muscle weakness, Lumbar hyperlordosis, Decreased motor nerve conduction ... OMIM:601152
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Rhabdomyolysis, Paralysis, Periodic hypokalemic paresis, Transient hypophos... ORPHA:79102
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis, Spastic paraplegia, Lower limb hypertonia, Clonus, Pectus carinatum, Upper limb hypertonia OMIM:614898
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Scoliosis, Small hand, Talipes equinovarus, Short foot, Hip dislocation OMIM:300434
Juberg-Hayward Syndrome
Toe syndactyly, Hammertoe, Short thumb, Hypoplasia of the radius, Abnormal rib morphology, Abnorm... ORPHA:2319
Axial Mesodermal Dysplasia Spectrum
Missing ribs, Abnormality of pelvic girdle bone morphology, Abnormal form of the vertebral bodies... ORPHA:1834
Borjeson-Forssman-Lehmann Syndrome
Scheuermann-like vertebral changes, Shortening of all distal phalanges of the fingers, Widely spa... OMIM:301900
X-Linked Adrenoleukodystrophy
Leg muscle stiffness, Incoordination, Paralysis, Paraparesis, Hemiparesis, Progressive spastic pa... ORPHA:43
Oculocerebrocutaneous Syndrome
Missing ribs, Finger syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Congenit... ORPHA:1647
Zaki Syndrome
Toe syndactyly, High palate, Spastic gait, Short philtrum, Sacral dimple, Congenital diaphragmati... OMIM:619648
Spastic Ataxia 5, Autosomal Recessive
Dysmetria, Skeletal muscle atrophy, Increased intramyocellular lipid droplets, Spastic paraparesi... OMIM:614487
Melnick-Needles Syndrome
Bowing of the long bones, Coxa valga, Short thorax, Delayed eruption of teeth, Cone-shaped epiphy... ORPHA:2484
Chromosome 15Q25 Deletion Syndrome
Cleft upper lip, Short neck, Tented upper lip vermilion, Congenital diaphragmatic hernia, Pectus ... OMIM:614294
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Machado-Joseph Disease Type 1
Abnormal pyramidal sign, Spinocerebellar tract degeneration, Skeletal muscle atrophy, Facial-ling... ORPHA:276238
Machado-Joseph Disease Type 2
Abnormal pyramidal sign, Spinocerebellar tract degeneration, Skeletal muscle atrophy, Facial-ling... ORPHA:276241
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Achilles tendon contracture, Skeletal muscle atrophy, Ragged-red muscle fibers, EMG: myopathic ab... OMIM:615418
Spondyloperipheral Dysplasia
Short thumb, Short distal phalanx of the 5th finger, Short toe, Brachydactyly, Flat capital femor... OMIM:271700
Congenital Fiber-Type Disproportion Myopathy
Hypoxemia, Scoliosis, Intercostal muscle weakness, High palate, Flexion contracture, Dental crowd... ORPHA:2020
Mucolipidosis Iii Gamma
Flat capital femoral epiphysis, Kyphosis, Short neck, Flared iliac wing, Increased serum beta-hex... OMIM:252605
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis, Neonatal inspiratory stridor, Abnormal blood potassium concentratio... ORPHA:684
Zimmermann-Laband Syndrome 2
Kyphosis, Short neck, Deep philtrum, Macroglossia, Gingival overgrowth, Thick vermilion border OMIM:616455
Primary Angiitis Of The Central Nervous System
Tetraparesis, Paralysis, Parkinsonism, Ataxia, Paraparesis, Hemiparesis, Pseudopapilledema ORPHA:140989
Rett Syndrome
Apnea, Kyphosis, Skeletal muscle atrophy, Abnormality of the dentition, Gait apraxia, Gait ataxia... OMIM:312750
Campomelic Dysplasia
Narrow iliac wing, Absent sternal ossification, Long philtrum, Tracheomalacia, Fibular hypoplasia... OMIM:114290
Rhizomelic Syndrome, Urbach Type
Brachydactyly, High palate, Kyphosis, Abnormal form of the vertebral bodies, Abnormality of epiph... ORPHA:3098
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
High palate, Dysmetria, Dysdiadochokinesis, Increased intramyocellular lipid droplets, Increased ... ORPHA:502423
Weaver Syndrome
Clinodactyly, Long philtrum, Diastasis recti, Flared humeral metaphysis, Radial deviation of fing... OMIM:277590
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities