Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
myogenic factor 5
Synonyms:
Myf-5,  bHLHc2,  B130010J22Rik

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 Myf5 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 Myf5 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Pectus excavatum, Torticollis, Short ribs, Missing ribs, Pectus carinatum, Pseudoarthrosis OMIM:618155

The table below shows human diseases predicted to be associated to Myf5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Thoracomelic Dysplasia
Short ribs, Bell-shaped thorax OMIM:273740
Thoracic Dysostosis, Isolated
Short ribs, Pectus excavatum, Bell-shaped thorax OMIM:187750
Cervical Rib
Cervical ribs OMIM:117900
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Tubular Aggregate Myopathy
Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Centr... ORPHA:2593
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Postaxial foot polydactyly, Horizontal ribs, Lateral clavicle hook, Short ribs, Trident acetabulu... OMIM:617405
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Facial palsy, Z-band str... OMIM:617158
Spinal Muscular Atrophy, Type Iv
Quadriceps muscle atrophy, Proximal amyotrophy, Spinal muscular atrophy, Type 1 muscle fiber pred... OMIM:271150
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Proximal muscle weakness in lower limbs, Myopathy, Muscle fiber inclusion bodies, Limb-girdle mus... OMIM:615424
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in lower limbs, Fiber type grouping, Weakness of facial musculature, Sca... OMIM:619733
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Autophagic vacuoles, Distal amyotrophy, Type 1 muscle fiber predominance, Z-band streaming, Rimme... OMIM:618655
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in lower limbs, Distal lower limb muscle weakness, Fatty replacement of ... OMIM:301075
Polyglucosan Body Myopathy 2
Shoulder girdle muscle weakness, Hand muscle weakness, Pelvic girdle amyotrophy, Muscle fiber pol... OMIM:616199
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Proximal muscle weakness in lower limbs, Restrictive ventilatory defect, Respiratory insufficienc... OMIM:617232
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Fatty replacement of skeletal muscle, Muscle fiber necro... OMIM:618848
Poland Syndrome
Absence of pectoralis minor muscle, Hypoplasia of serratus anterior muscle, Short ribs, Syndactyl... OMIM:173800
Thoracopelvic Dysostosis
Short ribs OMIM:187770
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Spinal muscular atroph... OMIM:158600
Myopathy, Distal, Tateyama Type
Intrinsic hand muscle atrophy, Myopathy, Hand muscle weakness, Type 1 muscle fiber predominance, ... OMIM:614321
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Shoulder girdle muscle weakness, Autophagic vacuoles, Muscular dystrophy, EMG: myopathic abnormal... OMIM:608423
Vacuolar Neuromyopathy
Shoulder girdle muscle weakness, Muscle fiber splitting, Muscular dystrophy, Scapular winging, Ce... OMIM:601846
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy OMIM:618992
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Muscle fiber splitting, Type 1 muscle fiber predominance, Skeletal muscle atrophy, Increased endo... OMIM:617760
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Type 1 muscle fiber predominance, Central core regions in muscle fibers, Weakness of facial muscu... OMIM:117000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Proximal amyotrophy, Shoulder girdle muscle weakness, Shoulder girdle muscle atrophy, Muscular dy... OMIM:254110
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Proximal amyotrophy, Muscle fiber splitting, Myopathy, Fatty replacement of skeletal muscle, Scap... OMIM:618129
Tibial Muscular Dystrophy
Proximal muscle weakness in lower limbs, Peroneal muscle atrophy, Myopathy, EMG: myopathic abnorm... ORPHA:609
Muscular Dystrophy, Limb-Girdle, Type 1H
Shoulder girdle muscle atrophy, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, C... OMIM:613530
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vac... ORPHA:611
Myopathy, Centronuclear, 4
Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers OMIM:614807
Nonaka Myopathy
Distal lower limb muscle weakness, Distal amyotrophy, EMG: myopathic abnormalities, Rimmed vacuol... OMIM:605820
Gne Myopathy
Lower limb amyotrophy, Shoulder girdle muscle weakness, Hip flexor weakness, Lower limb muscle we... ORPHA:602
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Shoulder girdle muscle weakness, Autophagic vacuoles, Lim... ORPHA:266
Myopathy, Scapulohumeroperoneal
Wrist drop, Skeletal muscle atrophy, Nemaline bodies, Scapular winging, Achilles tendon contractu... OMIM:616852
Myopathy, Distal, 5
Muscle fiber splitting, Distal lower limb muscle weakness, Distal amyotrophy, Weakness of facial ... OMIM:617030
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Proximal amyotrophy, Myopathy, Muscular dystrophy, Scapular winging, Centrally nucleated skeletal... OMIM:612999
Congenital Myopathy 18
Increased endomysial connective tissue, Centrally nucleated skeletal muscle fibers, Increased var... OMIM:620246
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in lower limbs, Distal lower limb muscle w... OMIM:601954
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Joint stiffness, Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Abn... ORPHA:2064
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Metatropic Dysplasia
Relatively short spine, Flared iliac wing, Halberd-shaped pelvis, Metaphyseal irregularity, Enlar... OMIM:156530
Myopathy, Centronuclear, 1
Proximal amyotrophy, Distal lower limb muscle weakness, Type 1 muscle fiber predominance, Skeleta... OMIM:160150
Welander Distal Myopathy
Distal amyotrophy, Rimmed vacuoles OMIM:604454
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, Type 1 muscle fiber predominance, EMG: myopathic abnormalities, Z... OMIM:619178
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Pectus excavatum, Torticollis, Short ribs, Missing ribs, Pectus carinatum, Pseudoarthrosis OMIM:618155
Myasthenic Syndrome, Congenital, 14
Type 1 muscle fiber predominance, Weakness of facial musculature, Knee flexion contracture, Muscl... OMIM:616228
Isolated Klippel-Feil Syndrome
Abnormal sacrum morphology, Scoliosis, Short neck, Abnormality of the vertebral column, Abnormal ... ORPHA:2345
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Minicore myopathy, Type 1 muscle fiber predominance, Fatty replacement of skeletal muscle, Z-band... OMIM:618823
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Peroneal muscle atrophy, Shoulder girdle muscle atrophy, Weakness of facial musculature, Z-band s... OMIM:181400
Oculopharyngodistal Myopathy 2
Weakness of facial musculature, EMG: myopathic abnormalities, Fatty replacement of skeletal muscl... OMIM:618940
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Shoulder girdle muscle weakness, Myopathy, Shoulder girdle muscle atrophy, Type 1 muscle fiber pr... OMIM:608358
Kyphomelic Dysplasia
Lateral clavicle hook, Abnormal metaphysis morphology, Joint stiffness, Missing ribs, Flat acetab... ORPHA:1801
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Shoulder girdle muscle weakness, Myopathy, Proximal lower limb amyotrophy, Flexion limitation of ... OMIM:609115
Lethal Congenital Contracture Syndrome 3
Respiratory insufficiency, Skeletal muscle atrophy, Neonatal death, Arthrogryposis multiplex cong... OMIM:611369
Klippel-Feil Syndrome 2, Autosomal Recessive
Scoliosis, Short neck, Fused cervical vertebrae, Sprengel anomaly, Cervical C2/C3 vertebral fusion OMIM:214300
Thoracolaryngopelvic Dysplasia
Horizontal ribs, Irregular chondrocostal junctions, Metaphyseal widening, Short ribs, Hypoplastic... OMIM:187760
Spondylocostal Dysostosis 5
Scoliosis, Vertebral fusion, Butterfly vertebrae, Low back pain, Short neck, Missing ribs, Hemive... OMIM:122600
Thoracomelic Dysplasia
Abnormality of fibula morphology, Abnormal metaphysis morphology, Limb undergrowth, Short ribs, B... ORPHA:1803
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Hereditary Myopathy With Early Respiratory Failure
Muscle fiber splitting, Type 1 muscle fiber predominance, Necrotizing myopathy, Skeletal muscle a... ORPHA:178464
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Scoliosis, Short neck, Fused cervical vertebrae, Flexion contracture, T... OMIM:618469
Spondylocostal Dysostosis 1, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Short neck, Death in infancy, Hemivertebra... OMIM:277300
Endosteal Hyperostosis, Worth Type
Generalized osteosclerosis, Craniofacial hyperostosis, Abnormal cortical bone morphology, Abnorma... ORPHA:2790
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Abnormal sacrum morphology, Scoliosis, Thoracic hemivertebrae ORPHA:1436
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Scoliosis, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulnar synost... ORPHA:3268
Myasthenic Syndrome, Congenital, 17
Type 1 muscle fiber predominance OMIM:616304
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Myofibrillar myopathy, Fatty replacement of skeletal muscle, Abnormal muscle fiber morphology, Ri... ORPHA:34516
Thanatophoric Dysplasia, Type Ii
Hypoplastic ilia, Short greater sciatic notch, Respiratory insufficiency, Short ribs, Neonatal de... OMIM:187601
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Torticollis, Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Congenital muscular d... OMIM:613204
Fibrochondrogenesis 2
Thoracic hypoplasia, Hypoplastic ilia, Metaphyseal cupping, Short ribs, Metaphyseal widening, Bel... OMIM:614524
Spinal Muscular Atrophy, Infantile, James Type
Distal amyotrophy, Type 1 muscle fiber predominance, Lower limb muscle weakness, Hip contracture,... OMIM:619042
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Contracture of the distal interphalangeal joint of the fingers, Muscular... OMIM:617072
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Scoliosis, Fused cervical vertebrae, Thoracic hemivertebrae OMIM:309620
Achondrogenesis, Type Ib
Hypoplastic ilia, Absent or minimally ossified vertebral bodies, Respiratory insufficiency, Short... OMIM:600972
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Myopathy, Skeletal muscle atrophy, Muscle fiber atrophy, Centrally nucleated skeletal muscle fibe... OMIM:615422
Myopathy, Myofibrillar, 5
Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy, Muscle fiber splitting OMIM:609524
Congenital Myopathy 5 With Cardiomyopathy
Minicore myopathy, Myopathy, Weakness of facial musculature, Increased endomysial connective tiss... OMIM:611705
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Weakness of facial musculature, Angulated muscle fibers, Shoulder girdle muscle weakness, Scapula... OMIM:619477
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Enlarged epiphyses, Hypoplastic ilia, Hip dislocation, Genu varum, Proximal placement of thumb, S... OMIM:613330
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Increased endomysial connective tissue, Centrally nucleated skeletal muscle f... OMIM:617066
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Myopathy, Left ventricular hypertrophy, Type 1 muscle fiber predominance, Triceps weakness, Muscu... ORPHA:86812
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Muscular dystrophy, Skeletal muscle atrophy, EMG: myopathic abnormalities, Fatty replacement of s... OMIM:608807
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Muscular dystrophy, Skeletal muscle atrophy, EMG: myopathic abnormalities... OMIM:253601
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal amyotrophy, Fiber type grouping OMIM:614369
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Contracture of the proximal in... OMIM:609813
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Myopathy ORPHA:1878
Congenital Myopathy 14
Type 1 muscle fiber predominance, Weakness of facial musculature, Knee flexion contracture, Respi... OMIM:618414
Distal Myopathy With Anterior Tibial Onset
Intrinsic hand muscle atrophy, Finger flexor weakness, Tibialis muscle weakness, Rimmed vacuoles,... ORPHA:178400
Infantile-Onset X-Linked Spinal Muscular Atrophy
Spinal muscular atrophy, Respiratory insufficiency, Weakness of facial musculature, Inflammatory ... ORPHA:1145
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
EMG: myopathic abnormalities, Scapular winging, Limb-girdle muscular dystrophy, Increased endomys... OMIM:608099
Axial Spondylometaphyseal Dysplasia
Acromesomelia, Flattened femoral head, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, P... ORPHA:168549
Parana Hard-Skin Syndrome
Respiratory insufficiency, Restricted chest movement OMIM:260530
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Pectus excavatum, Short neck, Kyphosis, Abnormal rib morphology, Abnormal clavicle morphology, Fu... ORPHA:2522
Diaphanospondylodysostosis
Enlarged thorax, Absent or minimally ossified vertebral bodies, Short neck, Missing ribs, Abnorma... ORPHA:66637
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cervical vertebral bodies with decreased anteroposterior diameter, Fusion of midcervical facet jo... OMIM:606842
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Muscle fiber intracytoplasmic reducing inclusion bodies, Death in adolescence, Respiratory insuff... OMIM:300717
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Short ribs, Advanced ossification of carpal bones, Micromelia, Stillb... OMIM:215045
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Rhabdomyolysis, Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Increased endom... OMIM:620138
Sprengel Deformity
Scoliosis, Hemivertebrae, Cervical segmentation defect, Rib segmentation abnormalities, Shoulder ... OMIM:184400
Multiple Synostoses Syndrome 2
Vertebral fusion, Proximal symphalangism, Finger symphalangism, Carpal synostosis, Humeroradial s... OMIM:610017
Distal Myopathy, Welander Type
Intrinsic hand muscle atrophy, Myopathy, EMG: myopathic abnormalities, Distal upper limb amyotrop... ORPHA:603
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Achondrogenesis Type 2
Hypoplastic ilia, Short ribs, Cardiorespiratory arrest, Micromelia, Delayed proximal femoral epip... ORPHA:93296
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Facial palsy, Proximal muscle weakness in lower limbs, Ragged-red muscle fibers OMIM:616209
Klippel-Feil Syndrome 1, Autosomal Dominant
Scoliosis, Short neck, Abnormal rib morphology, Congenital muscular torticollis, Abnormal vertebr... OMIM:118100
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Distal lower limb muscle weakness, Flexion contracture of finger, Increased endomysial connective... ORPHA:206549
Tibial Muscular Dystrophy, Tardive
Muscular dystrophy, Rimmed vacuoles, EMG: myopathic abnormalities OMIM:600334
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Increased variability in muscle fiber diameter OMIM:611615
Dysosteosclerosis
Increased susceptibility to fractures, Diaphyseal thickening, Short sternum, Absent paranasal sin... OMIM:224300
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Hemivertebrae, Vertebral clefting, Rib fusion, Vertebral segmentation defect OMIM:608681
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Death in childhood, Neonatal respiratory distress, Limb undergrowth, Metaphyseal widening, Short ... OMIM:618961
Myopathy, Myofibrillar, 3
Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Achilles tendon contracture, Myof... OMIM:609200
Spinal Muscular Atrophy, Type I
Death in childhood, Proximal muscle weakness in lower limbs, Proximal amyotrophy, Spinal muscular... OMIM:253300
Lethal Congenital Contracture Syndrome 4
Distal arthrogryposis, Respiratory insufficiency, Skeletal muscle atrophy, Flexion contracture, M... OMIM:614915
Alpha-B Crystallin-Related Late-Onset Myopathy
Autophagic vacuoles, Facial diplegia, EMG: myopathic abnormalities, Muscle fiber inclusion bodies... ORPHA:399058
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Heart Defects-Limb Shortening Syndrome
Death in infancy, Kyphosis, Abnormal rib morphology, Narrow chest, Accelerated skeletal maturatio... ORPHA:1354
Mitochondrial Myopathy With Diabetes
Proximal amyotrophy, Weakness of orbicularis oculi muscle, EMG: myopathic abnormalities, Facial p... OMIM:500002
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Distal lower limb muscle weakness, Weakness of facial mu... ORPHA:457050
Myasthenic Syndrome, Congenital, 8
Respiratory insufficiency, Weakness of facial musculature, Narrow chest OMIM:615120
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Rimmed vacuoles, Ragged-red muscle fibers, Myopathy ORPHA:270
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscular dystrophy, Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Muscle f... OMIM:616812
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Flexion contracture, Scapular winging, Myopathy OMIM:616471
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers ORPHA:324581
Seckel Syndrome 4
Steep acetabular roof, 11 pairs of ribs OMIM:613676
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Weakness of facial musculature, Flexion contracture of finger, Increased endomysial connective ti... OMIM:618484
Distal Myopathy, Tateyama Type
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Abnormal muscle fiber protein expres... ORPHA:488650
Congenital Myopathy 1B, Autosomal Recessive
Minicore myopathy, Muscular dystrophy, Skeletal muscle atrophy, Nemaline bodies, Facial palsy, Ce... OMIM:255320
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory insufficiency, Muscular dystrophy, Death in infancy, Apnea, Respiratory failure OMIM:613869
Obsolete: Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Shoulder girdle muscle weakness, Muscle fiber splitting, Distal lower limb muscle weakness, Hand ... ORPHA:437572
Myopathy, X-Linked, With Postural Muscle Atrophy
Hamstring contractures, Skeletal muscle atrophy, Skeletal muscle hypertrophy, EMG: myopathic abno... OMIM:300696
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Myopathy, Type 1 muscle fiber predominance, Type 2 muscle fiber atrophy, Wea... OMIM:160565
Muscular Dystrophy, Congenital, 1B
Shoulder girdle muscle weakness, Sternocleidomastoid amyotrophy, Pectoralis amyotrophy, Achilles ... OMIM:604801
Spondylocostal Dysostosis 6, Autosomal Recessive
Scoliosis, Butterfly vertebrae, Hemivertebrae, Spinal canal stenosis, Cervical kyphosis OMIM:616566
X-Linked Centronuclear Myopathy
Weakness of facial musculature, Necklace skeletal muscle fibers, Centrally nucleated skeletal mus... ORPHA:596
Pontocerebellar Hypoplasia, Type 1C
Death in childhood, Spinal muscular atrophy, Respiratory insufficiency, Skeletal muscle atrophy, ... OMIM:616081
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Muscle fiber splitting, Myopathy, Type 1 muscle fiber predominance, Knee flexion contracture, Ske... OMIM:616313
Fetal Akinesia Deformation Sequence 4
Camptodactyly, 11 pairs of ribs, Skeletal muscle atrophy, Rocker bottom foot, Neonatal death, Pre... OMIM:618393
Miyoshi Muscular Dystrophy 1
Distal amyotrophy, Muscular dystrophy, Lower limb muscle weakness, Deposits immunoreactive to bet... OMIM:254130
Spondylometaphyseal Dysplasia, X-Linked
Short finger, Respiratory insufficiency, Knee flexion contracture, Tapered finger, Pectus carinat... OMIM:313420
Congenital Myopathy 3 With Rigid Spine
Minicore myopathy, Type 1 muscle fiber predominance, Muscular dystrophy, Facial palsy, Increased ... OMIM:602771
Nemaline Myopathy 6
Limb muscle weakness, Skeletal muscle atrophy, Nemaline bodies, Myopathy OMIM:609273
Congenital Myopathy 8
Type 1 muscle fiber predominance, Weakness of facial musculature, Muscle fiber atrophy, Internall... OMIM:618654
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Flexion contracture, Muscle fiber intracytoplasmic reducing inclusion bodies, Rimmed vacuoles, In... OMIM:300718
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Congenital Myopathy 10A, Severe Variant
Camptodactyly of finger, Pectus excavatum, Restrictive ventilatory defect, Respiratory insufficie... OMIM:614399
Metatropic Dysplasia
Camptodactyly of finger, Scoliosis, Joint stiffness, Abnormal cortical bone morphology, Long thor... ORPHA:2635
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Limb-girdle muscular dystrophy, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... OMIM:612937
Nemaline Myopathy 8
Death in infancy, Myofibrillar myopathy, Nemaline bodies, Facial palsy, Respiratory failure, Flex... OMIM:615348
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in lower limbs, Distal lower limb muscle weakness, Weakness of facial mu... OMIM:619566
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Shoulder girdle muscle weakness, Muscle fiber splitting, Myofibrillar myopathy, Scapular winging,... OMIM:603689
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Lower limb amyotrophy, Upper limb amyotrophy, Muscle fiber splitting, Myopathy, Lower limb muscle... OMIM:616924
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Thoracic hypoplasia, Horizontal ribs, Hypoplastic ilia, Lateral clavicle hook, Postaxial polydact... OMIM:617895
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Ankle clonus, Joint laxity, Hypoplasia of the capital femoral epiphysis, Respiratory failure, Han... OMIM:600561
Schneckenbecken Dysplasia
Thoracic hypoplasia, Lateral clavicle hook, Limb undergrowth, Short ribs, Umbilical hernia, Anter... OMIM:269250
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Facial palsy, EMG: myopathic abnormalities, Ragged-red muscle fibers OMIM:609283
Bone Dysplasia, Lethal Holmgren Type
Abnormal diaphysis morphology, Respiratory insufficiency, Short ribs, Rhizomelia, Abnormality of ... ORPHA:1842
Osteogenesis Imperfecta, Type Ix
Beaded ribs, Scoliosis, Pectus excavatum, Kyphosis, Wormian bones, Multiple prenatal fractures, P... OMIM:259440
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Distal lower limb amyotrophy, Proximal amyotrophy, Intrinsic hand muscle atrophy, Distal lower li... OMIM:620068
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Metaphyseal cupping, Rhizomelia, Thin ribs, Micromelia, Metaphyseal irregularity, Radial bowing, ... OMIM:151210
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Minicore myopathy, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Incr... ORPHA:486815
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Death in childhood, Pulmonary arterial hypertension, Metaphyseal cupping, Short ribs, Flat acetab... OMIM:613320
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteolysis, Joint swelling, Broad ribs, Osteopenia, Periostitis, Osteomyelitis, Fused cervical ve... OMIM:612852
Thanatophoric Dysplasia, Type I
Thoracic hypoplasia, Neonatal respiratory distress, Hypoplastic ilia, Short greater sciatic notch... OMIM:187600
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Muscular dystrophy, Skeletal muscle atrophy, Proximal amyotrophy, Increased variability in muscle... OMIM:614302
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Hip dislocation, Increased laxity of fingers, Hyperextensibility at wrists, Knee fle... ORPHA:75840
Congenital Myopathy 6 With Ophthalmoplegia
Myopathy, Type 1 muscle fiber predominance, Scapular winging, Muscle fiber inclusion bodies, Cong... OMIM:605637
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Muscle fiber hyaline bodies, Proximal amyotrophy, Type 1 muscle fiber predominance, EMG: myopathi... OMIM:255160
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Type 1 muscle fiber predominance, Muscular dystrophy, Skeletal muscle atr... OMIM:253700
Proximal Myopathy With Extrapyramidal Signs
Central core regions in muscle fibers, Centrally nucleated skeletal muscle fibers, Increased vari... ORPHA:401768
Achondrogenesis, Type Ia
Micromelia, Decreased skull ossification, Hypoplasia of the radius, Bowing of the legs, Abnormal ... OMIM:200600
Heyn-Sproul-Jackson Syndrome
11 pairs of ribs, Broad metacarpals, Short metacarpal, Broad phalanx, Short phalanx of finger OMIM:618724
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Flared, irregular rib ends, Limitation of joint mobility ORPHA:168555
Oculopharyngodistal Myopathy 3
Distal amyotrophy, Weakness of facial musculature, Increased endomysial connective tissue, Rimmed... OMIM:619473
Kniest Dysplasia
Abnormal joint morphology, Anterior vertebral fusion, Joint stiffness, Short neck, Laryngotracheo... ORPHA:485
Spondylometaphyseal Dysplasia, Type A4
Enlargement of the costochondral junction, Narrow greater sciatic notch, Metaphyseal sclerosis, M... OMIM:609052
Congenital Myopathy 4A, Autosomal Dominant
Facial palsy, Centrally nucleated skeletal muscle fibers, Limb joint contracture, Type 1 fibers r... OMIM:255310
Fibrochondrogenesis 1
Long clavicles, Posterior vertebral hypoplasia, Thin ribs, Rhizomelia, Broad long bones, Posterio... OMIM:228520
Arthrogryposis Multiplex Congenita 6
Death in childhood, Death in infancy, Nemaline bodies, Neonatal death, Adducted thumb, Respirator... OMIM:619334
Multiple Synostoses Syndrome 1
Lower limb undergrowth, Absent distal phalanges, Carpal synostosis, Short hallux, Cutaneous finge... OMIM:186500
Wildervanck Syndrome
Fused cervical vertebrae, Short neck ORPHA:3456
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Irregular chondrocostal junctions, Genu varum, Metaphyseal cupping, Short ribs, Metaphyseal widen... OMIM:250420
Frontometaphyseal Dysplasia 1
Cervical C2/C3 vertebral fusion, Camptodactyly of finger, Scoliosis, Carpal synostosis, Interphal... OMIM:305620
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Muscular dystrophy, Skeletal muscle hypertrophy, Increased endomysial connective tissue, Increase... OMIM:613157
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in lower limbs, Intrinsic hand muscle atrophy, Distal lower limb muscle ... ORPHA:276435
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Weakness of facial musculature, Skeletal muscle atrophy, Ragged-red muscle fibers, Scapular winging OMIM:617069
Three M Syndrome 1
Neonatal respiratory distress, Pectus excavatum, Hip dislocation, Hypoplastic pelvis, Short ribs,... OMIM:273750
Oculopharyngodistal Myopathy 4
Autophagic vacuoles, Weakness of facial musculature, EMG: myopathic abnormalities, Fatty replacem... OMIM:619790
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Facial palsy, Frontalis muscle weakness, Type 1 fibers relatively smaller than type 2 fibers, Myo... OMIM:300580
Myopathy, Centronuclear, 2
EMG: myopathic abnormalities, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle... OMIM:255200
Adult-Onset Nemaline Myopathy
Myopathy, Lower limb muscle weakness, Type 1 muscle fiber predominance, EMG: myopathic abnormalit... ORPHA:171442
Merrf
Ragged-red muscle fibers, Myopathy ORPHA:551
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Rimmed vacuoles, Muscle fiber inclusion bodies OMIM:615426
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Death in infancy, Sacral dimple, Short thorax, Vertebral segmentation defect OMIM:618845
Myopathy, Centronuclear, 5
Weakness of facial musculature, Centrally nucleated skeletal muscle fibers, Hip contracture OMIM:615959
Acrocapitofemoral Dysplasia
Short distal phalanx of finger, Short tibia, Small finger, Micromelia, Flared iliac wing, Radial ... OMIM:607778
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Thoracic dysplasia, Thoracic hypoplasia, Lateral clavicle hook, Short ribs, Bell-shaped thorax, S... OMIM:615630
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Internally nucl... OMIM:618138
Spondyloepimetaphyseal Dysplasia, Shohat Type
Central vertebral hypoplasia, Limb undergrowth, Genu varum, Short ribs, Micromelia, Bell-shaped t... OMIM:602557
Nemaline Myopathy 2
Arthrogryposis multiplex congenita, Sternocleidomastoid amyotrophy, Muscle fiber splitting, Type ... OMIM:256030
Pyknoachondrogenesis
Abnormal iliac wing morphology, Horizontal ribs, Craniofacial hyperostosis, Enlarged thorax, Shor... ORPHA:3003
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Miscarriage, Hypoplastic ilia, Limb undergrowth, Respiratory insufficiency, Short ... ORPHA:1865
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Increased variability in muscle fiber diameter ORPHA:238329
Postsynaptic Congenital Myasthenic Syndromes
Shoulder girdle muscle weakness, Restrictive ventilatory defect, Type 1 muscle fiber predominance... ORPHA:98913
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Pallister-Hall-Like Syndrome
Postaxial foot polydactyly, Hip dislocation, Short ribs, Occipital encephalocele, Death in infanc... OMIM:241800
Congenital Arthrogryposis With Anterior Horn Cell Disease
Hip dysplasia, Facial diplegia, Respiratory insufficiency due to muscle weakness, Skeletal muscle... OMIM:611890
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle autophagosome accumu... OMIM:619518
Ullrich Congenital Muscular Dystrophy 2
Flexion contracture, Facial palsy, Congenital muscular dystrophy, Increased variability in muscle... OMIM:616470
Amyotrophic Lateral Sclerosis 21
Shoulder girdle muscle weakness, Distal lower limb muscle weakness, Hand muscle weakness, Central... OMIM:606070
Achondrogenesis, Type Ii
Horizontal ribs, Short ribs, Absent vertebral body mineralization, Broad long bones, Stillbirth, ... OMIM:200610
Intermediate Nemaline Myopathy
Abnormal thorax morphology, Facial diplegia, Type 1 muscle fiber predominance, Skeletal muscle at... ORPHA:171433
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Short neck, Thoracolumbar scoliosis, Myopathy, Nemaline bodies, Acetabular dysplasia, Cervical C2... OMIM:616549
Zebra Body Myopathy
Torticollis, Autophagic vacuoles, Muscle fiber splitting, Myofibrillar myopathy, Nemaline bodies,... ORPHA:97240
Autosomal Dominant Spondylocostal Dysostosis
Abnormal sacrum morphology, Scoliosis, Short neck, Missing ribs, Abnormal rib morphology, Posteri... ORPHA:1797
Thoraco-Abdominal Enteric Duplication
Meningocele, Missing ribs, Camptodactyly of finger, Respiratory insufficiency ORPHA:1759
Hypophosphatasia, Infantile
Rachitic rosary, Craniosynostosis, Short lower limbs, Metaphyseal cupping, Short ribs, Death in i... OMIM:241500
Myopathy, Myofibrillar, 8
Joint contracture of the 5th finger, Central core regions in muscle fibers, Nemaline bodies, Scap... OMIM:617258
Sandhoff Disease, Adult Form
Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Muscle fiber atrophy ORPHA:309169
Fibrochondrogenesis
Camptodactyly of finger, Abnormal metaphysis morphology, Abnormal diaphysis morphology, Respirato... ORPHA:2021
Prieto Syndrome
11 pairs of ribs, Osteoporosis, Coxa valga, Patellar subluxation, Patellar dislocation, Radial de... OMIM:309610
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Synostosis of carpal bones, Abnormal rib morphology, Cubitus valgus, Ver... ORPHA:1836
Bent Bone Dysplasia Syndrome 2
Short 1st metacarpal, Short lower limbs, Short ribs, Short tibia, Thin ribs, Hypoplastic acetabul... OMIM:620076
Myopathy, Distal, 3
Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Joint contr... OMIM:610099
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Thoracic dysplasia, Lateral clavicle hook, Preaxial polydactyly, Postaxial polydactyly, Short rib... OMIM:615503
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Camptodactyly, Metaphyseal widening, Short ribs, Advanced ossification of carpal bones, Broad lon... OMIM:224400
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Thoracic hypoplasia, Beaded ribs, Fractured radius, Decreased fibular diameter, Limb undergrowth,... OMIM:616897
Greenberg Dysplasia
Absent or minimally ossified vertebral bodies, Long clavicles, Metaphyseal cupping, Rhizomelia, M... OMIM:215140
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Central apnea, Death in infancy, Respiratory failure OMIM:611722
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Proximal amyotrophy, Myopathy, Respiratory insufficiency, Type 1 muscle fiber predominance, Nemal... OMIM:605355
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Thoracic hypoplasia, Preaxial polydactyly, Radial bowing, Short ribs, Missing ribs, Postaxial pol... OMIM:617866
Autosomal Recessive Centronuclear Myopathy
Facial diplegia, Left ventricular hypertrophy, Type 1 muscle fiber predominance, Scapular winging... ORPHA:169186
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Fiber type grouping, Lower limb muscle weakness, Type 1 muscle fiber predominance, Distal amyotro... OMIM:608340
Hyperekplexia 4
Camptodactyly, Distal arthrogryposis, Umbilical hernia, Adducted thumb, Respiratory failure, Flex... OMIM:618011
Myopathy, Distal, 1
Tibialis anterior muscle atrophy, Distal lower limb muscle weakness, Type 1 muscle fiber predomin... OMIM:160500
Finnish Upper Limb-Onset Distal Myopathy
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Fatty replacement of skeletal muscle... ORPHA:399086
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dyspnea, Aspiration pneumonia, Lower limb muscle weakness, Cough, Upper limb muscle weakness, Res... ORPHA:90117
Craniodiaphyseal Dysplasia, Autosomal Dominant
Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Death in adolescenc... OMIM:122860
Congenital Myopathy 4B, Autosomal Recessive
Distal lower limb amyotrophy, Pectus excavatum, Facial diplegia, Distal lower limb muscle weaknes... OMIM:609284
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Shoulder girdle muscle weakness, Muscle fiber splitting, Muscular dystrophy, Facial palsy, Rimmed... OMIM:603511
Osteogenesis Imperfecta, Type Xv
Scoliosis, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Recurrent fractur... OMIM:615220
Congenital Myopathy 15
Camptodactyly, Type 1 muscle fiber predominance, Weakness of facial musculature, Fatty replacemen... OMIM:620161
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Hip dislocation, Long clavicles, Intercrural pterygium, Popliteal pterygium, Diaphragm... OMIM:265000
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Myopathy OMIM:545000
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Macroglossia, Lower limb muscle weakness, Hypoglycosylation of alpha-dystroglycan, Scapular wingi... OMIM:616052
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased intramyocellular lipid droplets, Increased variability in muscle fiber diameter OMIM:619065
Symphalangism Of Toes
Synostosis involving bones of the toes OMIM:185600
Becker Nevus Syndrome
Scoliosis, Pectus excavatum, Cervical ribs, Hemivertebrae OMIM:604919
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in lower limbs, Type 1 muscle fiber predominance, EMG: myopathic abnorma... ORPHA:169189
King-Denborough Syndrome
Minicore myopathy, Type 1 muscle fiber predominance, Weakness of facial musculature, Muscle fiber... OMIM:619542
Congenital Muscular Dystrophy With Intellectual Disability
Reduced muscle fiber alpha dystroglycan, Hip dislocation, Respiratory insufficiency, Hypoglycosyl... ORPHA:370968
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Macroglossia, EMG: myopathic abnormalities, Right ventricular hypertrophy, Achilles tendon contra... ORPHA:353
Atelosteogenesis Type Ii
Increased femoral anteversion, Rhizomelia, Micromelia, Hypoplastic cervical vertebrae, Short phal... ORPHA:56304
Multiminicore Myopathy
Proximal muscle weakness in lower limbs, Minicore myopathy, Myopathy, Abnormal muscle fiber morph... ORPHA:598
Mucolipidosis Iii Alpha/Beta
Craniosynostosis, Short ribs, Broad ribs, Short long bone, Shallow acetabular fossae, Carpal bone... OMIM:252600
Hereditary Motor And Sensory Neuropathy, Type Iic
Distal lower limb amyotrophy, Down-sloping shoulders, Distal lower limb muscle weakness, Shoulder... OMIM:606071
Congenital Myopathy 23
Facial diplegia, Type 1 muscle fiber predominance, Skeletal muscle atrophy, Nemaline bodies, Scap... OMIM:609285
Lethal Osteosclerotic Bone Dysplasia
Dyspnea, Delayed cranial suture closure, Mandibular aplasia, Respiratory distress, Respiratory fa... ORPHA:1832
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Interosseus muscle atrophy, Thenar muscle atrophy, Fiber type grouping, Distal lower limb muscle ... OMIM:619903
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Abnormal rib morphology, Hypoplastic distal segments of scapulae, Micrognathia,... OMIM:602196
Cooper-Jabs Syndrome
Camptodactyly of finger, Reduced bone mineral density, Proximal placement of thumb, Respiratory i... ORPHA:1488
Spondylocostal Dysostosis 4, Autosomal Recessive
Pectus excavatum, Abnormality of the odontoid process, Scoliosis, Vertebral fusion, Short neck, M... OMIM:613686
Scarf Syndrome
Craniosynostosis, Diastasis recti, Umbilical hernia, Pectus carinatum, Joint hyperflexibility, Sh... ORPHA:3134
Orofaciodigital Syndrome Iii
Postaxial foot polydactyly, Short sternum, Pectus excavatum, Postaxial hand polydactyly OMIM:258850
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy OMIM:616816
Glycogen Storage Disease Ixd
Distal amyotrophy, Lower limb muscle weakness, Skeletal muscle atrophy, Increased muscle glycogen... OMIM:300559
Lethal Congenital Contracture Syndrome Type 1
Abnormal cortical bone morphology, Short neck, Abnormality of the elbow, Skeletal muscle atrophy,... ORPHA:1486
Jeune Syndrome
Postaxial foot polydactyly, Abnormal metaphysis morphology, Micromelia, Abnormal rib morphology, ... ORPHA:474
Lamb-Shaffer Syndrome
Fused cervical vertebrae, Scoliosis, Thoracic kyphosis ORPHA:530983
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal joint morphology, Abnormal metaphysis morphology, Short metatarsal, Osteoporosis, Short ... ORPHA:93351
Distal Myotilinopathy
Distal amyotrophy, Multiple joint contractures, EMG: myopathic abnormalities, Abnormal muscle fib... ORPHA:98911
Marinesco-Sjogren Syndrome
Myopathy, Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, F... OMIM:248800
Short Rib-Polydactyly Syndrome
Abnormal long bone morphology, Absent or minimally ossified vertebral bodies, Polydactyly, Short ... ORPHA:1505
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in lower limbs, Lower limb muscle weakness, Type 1 muscle fiber predomin... OMIM:613954
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Craniofacial hyperostosis ORPHA:1513
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hypoplasia of the calcaneus, Metaphyseal cupping, Rhizomelia, Thin ribs, Distal shortening of lim... OMIM:300863
Lethal Kniest-Like Dysplasia
Hypoplastic ilia, Mesomelic/rhizomelic limb shortening, Short ribs, Hypoplastic vertebral bodies,... ORPHA:2347
Atelosteogenesis, Type I
Thoracic hypoplasia, Short neck, Coronal cleft vertebrae, Long clavicles, Neonatal death, Stillbi... OMIM:108720
Acrodysplasia Scoliosis
Scoliosis, Spina bifida occulta, Vertebral segmentation defect ORPHA:2956
Ehlers-Danlos Syndrome, Classic-Like, 2
Hip dislocation, Generalized joint laxity, Short neck, Osteoporosis, Osteoarthritis, Shoulder dis... OMIM:618000
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Abnormality of the first metatarsal bone, Metaphyseal widening, Respiratory insuff... OMIM:135100
Dpm3-Cdg
Calf muscle hypertrophy, Muscular dystrophy, Rimmed vacuoles, Pelvic girdle muscle weakness ORPHA:263494
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle fiber splitting OMIM:609452
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Thoracic dysplasia, Horizontal ribs, Lateral clavicle hook, Postaxial polydactyly, Bell-shaped th... OMIM:615633
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Muscular dystrophy, Muscle fiber splitting, Increased variability in muscle fiber diameter, Mothe... OMIM:226670
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Thoracic dysplasia, Short distal phalanx of finger, Polydactyly, Postaxial polydactyly, Short rib... OMIM:614091
Achondroplasia
Thoracic hypoplasia, Limited elbow extension, Generalized joint laxity, Genu varum, Short ribs, R... OMIM:100800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Macroglossia, Proximal amyotrophy, Shoulder girdle muscle weakness, Vertebral fusion, Shoulder gi... OMIM:606612
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Myopathy, Skeletal muscle atrophy, Proximal lower limb a... OMIM:310440
Myasthenic Syndrome, Congenital, 12
Facial palsy, Proximal amyotrophy, Ragged-red muscle fibers OMIM:610542
Severe Congenital Nemaline Myopathy
Abnormality of the diaphragm, Abnormal thorax morphology, Facial diplegia, Type 1 muscle fiber pr... ORPHA:171430
Scarf Syndrome
Diastasis recti, Coronal craniosynostosis, Umbilical hernia, Lambdoidal craniosynostosis, Pectus ... OMIM:312830
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Triceps weakness, Centrally nucleated skeletal muscle fibers, Foot dorsiflexor weakness, Intrinsi... OMIM:619574
Stuve-Wiedemann Syndrome 2
Thoracic hypoplasia, Camptodactyly, Pulmonary arterial hypertension, Death in adolescence, Neonat... OMIM:619751
Basal Cell Nevus Syndrome 1
Down-sloping shoulders, Vertebral fusion, Polydactyly, Short ribs, Short distal phalanx of the th... OMIM:109400
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Abnormal cervical curvature, Thin ribs, Joint dislocation, Multiple pterygia, I... OMIM:312150
Myopathy, Myofibrillar, 2
Leg muscle stiffness, Shoulder girdle muscle weakness, Muscle fiber splitting, Lower limb muscle ... OMIM:608810
Creatine Phosphokinase, Elevated Serum
Myopathy, Muscular dystrophy, EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Inf... OMIM:123320
Metaphyseal Chondrodysplasia, Jansen Type
Metaphyseal chondrodysplasia, Pathologic fracture, Metaphyseal cupping, Short ribs, Knee flexion ... OMIM:156400
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology, Slender long bone, Abnormal pelvic girdle bone morphology ORPHA:1506
Lethal Congenital Contracture Syndrome 5
Flexion contracture, Congenital contracture, Centrally nucleated skeletal muscle fibers OMIM:615368
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Craniosynostosis, Camptodactyly, Scoliosis, Vertebral fusion, Short neck, Knee flexion contractur... OMIM:178110
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Scoliosis, Hip dislocation, Short neck, Irregular vertebral endplates, Delayed ossification of ca... OMIM:618395
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:617070
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Pelvic girdle muscle weakness, Increased variability in muscle fiber dia... ORPHA:119
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Thoracic dysplasia, Horizontal ribs, Hand polydactyly, Lateral clavicle hook, Early ossification ... OMIM:208500
Combined Oxidative Phosphorylation Deficiency 6
Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:300816
Grant Syndrome
Abnormal cortical bone morphology, Wormian bones, Joint dislocation, Abnormality of the glenoid f... ORPHA:2097
Cerebrofaciothoracic Dysplasia
Rib fusion, Narrow chest, Bifid ribs, Sprengel anomaly ORPHA:1394
Tarp Syndrome
Pectus excavatum, Postaxial polydactyly, Hypoplasia of the radius, Rocker bottom foot, Cutaneous ... OMIM:311900
Ellis-Van Creveld Syndrome
Postaxial foot polydactyly, Horizontal ribs, Cone-shaped epiphyses of phalanges 2 to 5, Short rib... OMIM:225500
Meier-Gorlin Syndrome 1
Thin ribs, Aplasia/Hypoplasia of the patella, Cutaneous finger syndactyly, Absent glenoid fossa, ... OMIM:224690
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Pulmonary arterial hypertension, Short ribs, Broad ribs, Abnormal rib morphology, Respiratory dis... ORPHA:2519
Cleidocranial Dysplasia 1
Hip dislocation, Increased susceptibility to fractures, Cone-shaped epiphyses of the phalanges of... OMIM:119600
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Metaphyseal spurs, Thoracic hypoplasia, Horizontal ribs, Lateral clavicle hook, Absent tibia, Pre... OMIM:613091
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger OMIM:184460
Spondylometaphyseal Dysplasia, Sedaghatian Type
Horizontal inferior border of scapula, Metaphyseal cupping, Rhizomelia, Short toe, Flared iliac w... OMIM:250220
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Cheyne-Stokes respiration, Respiratory failure OMIM:618328
Childhood-Onset Nemaline Myopathy
Arthrogryposis multiplex congenita, Facial diplegia, Myopathy, Type 1 muscle fiber predominance, ... ORPHA:171439
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Abnormal cervical curvature, Thin ribs, Joint dislocation, Multiple pterygia, I... OMIM:253290
Hypersulfaturia
Costochondral pain OMIM:620372
Pontocerebellar Hypoplasia, Type 4
Congenital contracture, Death in infancy, Respiratory failure OMIM:225753
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Increased variability in muscle fiber diameter OMIM:617915
Thrombocytopenia-Absent Radius Syndrome
Scoliosis, Hip dislocation, Genu varum, Patellar dislocation, Aplasia/Hypoplasia of the patella, ... ORPHA:3320
Mitochondrial Myopathy, Infantile, Transient
Macroglossia, Increased muscle glycogen content, Hypertrophied muscle fibers, Facial palsy, Incre... OMIM:500009
Lethal Congenital Contracture Syndrome 1
Abnormal thorax morphology, Skeletal muscle atrophy, Neonatal death, Widening of cervical spinal ... OMIM:253310
Laing Early-Onset Distal Myopathy
Abnormality of the calf musculature, Abnormal mitochondria in muscle tissue, Proximal muscle weak... ORPHA:59135
Myotonia With Skeletal Abnormalities And Mental Retardation
Vertebral wedging, Skeletal muscle hypertrophy, Firm muscles, Bell-shaped thorax, Pectus carinatu... OMIM:255710
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Nemaline bodies, Achilles tendon contracture, Shoulder flexion contractu... OMIM:617114
Braddock Syndrome
Neonatal respiratory distress, Pectus excavatum, Pulmonary arterial hypertension, Missing ribs, M... ORPHA:52047
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Ventilator dependence with inability to wean, Spinal muscular atrophy, Myopathy, Respiratory insu... ORPHA:254875
Mayer-Rokitansky-K├╝ster-Hauser Syndrome Type 2
Abnormal rib morphology, Vertebral segmentation defect, Short neck ORPHA:2578
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Horizontal ribs, Narrow greater sciatic notch, Preaxial polydactyly, Postaxial pol... OMIM:616300
Orofaciodigital Syndrome Type 3
Postaxial foot polydactyly, Pectus excavatum, Thoracic kyphosis, Postaxial hand polydactyly, Shor... ORPHA:2752
Brachydactyly, Type B1
Camptodactyly, Vertebral fusion, Thoracolumbar scoliosis, Wide anterior fontanel, Delayed cranial... OMIM:113000
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Dyspnea, Missing ribs, Abnormal rib morphology, Respiratory distress, Respiratory failure, Joint ... ORPHA:2759
Van Den Ende-Gupta Syndrome
Thin ribs, Joint contracture of the hand, Camptodactyly of toe, Hallux valgus, Lateral clavicle h... OMIM:600920
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the ribs, Camptodactyly of finger, Prominent protruding coccyx, Long clavic... ORPHA:2839
Congenital Multicore Myopathy With External Ophthalmoplegia
Tibialis anterior muscle atrophy, Shoulder girdle muscle weakness, Facial diplegia, Sternocleidom... ORPHA:98905
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Cervical ribs, Osteoarthritis ORPHA:66630
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Shoulder girdle muscle weakness, Myopathy, Distal amyotrophy, Pelvic girdle amyotrophy, Shoulder ... OMIM:167320
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Macroglossia, Proximal muscle weakness in lower limbs, Hypoglycosylation of alpha-dystroglycan, S... ORPHA:352479
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Abnormal calcification of the carpal bones, Broad long bones, Micromelia, Flared iliac wing, Epip... OMIM:271665
Amish Nemaline Myopathy
Proximal amyotrophy, Type 1 muscle fiber predominance, EMG: myopathic abnormalities, Shoulder fle... ORPHA:98902
Donnai-Barrow Syndrome
Umbilical hernia, Diaphragmatic eventration, Short sternum, Congenital diaphragmatic hernia OMIM:222448
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter OMIM:613752
Marshall-Smith Syndrome
Death in childhood, Short distal phalanx of finger, Large sternal ossification centers, Hip dyspl... OMIM:602535
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Flexion contracture, Congenital muscular dystrophy, Increased endomysial connective tissue OMIM:607855
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Long clavicles, Rhizomelic leg shortening, Occipital encephalocele, Abnormal acetabulum morpholog... ORPHA:397715
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Arthrogryposis multiplex congenita, Spinal muscular atrophy, Skele... OMIM:616867
Hyperparathyroidism, Transient Neonatal
Metaphyseal spurs, Short ribs, Umbilical hernia, Thin ribs, Undulate ribs, Osteopenia, Short femu... OMIM:618188
Spondyloepimetaphyseal Dysplasia, Irapa Type
Limited elbow extension, Enlargement of the costochondral junction, Lumbar hyperlordosis, Osteoar... OMIM:271650
Nail-Patella Syndrome
Thickening of the lateral border of the scapula, Patellar aplasia, Absence of pectoralis minor mu... OMIM:161200
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Arthrogryposis multiplex congenita, Hip dislocation, Congenital hip dislocation, Femur fracture, ... OMIM:618291
Schneckenbecken Dysplasia
Hypoplastic ilia, Lateral clavicle hook, Abnormal metaphysis morphology, Short ribs, Hypoplastic ... ORPHA:3144
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Short thorax, Metaphyseal cupping, Short ribs, Rhizomelia, Short ... ORPHA:50945
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Pectus excavatum, Butterfly vertebrae, Spina bifida occulta, Sprengel anomaly, Fused cervical ver... OMIM:619227
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Immunodeficiency 95
Respiratory distress, Recurrent viral pneumonia, Respiratory failure OMIM:619773
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hypoplastic pelvis, Congenital hip dislocation, Umbilical hernia, Aplasia of the distal phalanx o... OMIM:308050
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Weakness of facial musculature, Respiratory failure OMIM:618637
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory insufficiency, Neonatal death, Apnea, Respiratory failure, Split hand OMIM:610127
Intellectual Developmental Disorder, Autosomal Dominant 52
Lumbar hyperlordosis, Lumbar scoliosis, Scapular winging, Pectus carinatum, Cervical C2/C3 verteb... OMIM:617796
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure, Ragged-red muscle fibers OMIM:616794
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short neck, Abnormality of the humeroulnar joint, Abnormal rib morphology, Hemivertebrae, Abnorma... ORPHA:2234
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Increased intramyocellular lipid droplets, Increased variability ... OMIM:617228
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Ragged-red muscle fibers OMIM:615159
Becker Nevus Syndrome
Pectus excavatum, Scoliosis, Shoulder girdle muscle atrophy, Kyphosis, Pectus carinatum, Spina bi... ORPHA:64755
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Short neck, Platyspondyly, Abnormal rib morphology, Abnormal clavicle morphology, Narrow chest, D... ORPHA:93267
Nemaline Myopathy 10
Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Death in infancy, Nema... OMIM:616165
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly OMIM:617333
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Poland Syndrome
Absent hand, Abnormality of the humerus, Asymmetry of the thorax, Finger symphalangism, Sprengel ... ORPHA:2911
Short-Rib Thoracic Dysplasia 12
Short finger, Thoracic dysplasia, Horizontal ribs, Limb undergrowth, Respiratory insufficiency, S... OMIM:269860
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Camptodactyly of finger, Ventilator dependence with inability to wean, Spinal muscular atrophy, D... OMIM:604320
Spondylometaphyseal Dysplasia, Axial
Thoracic hypoplasia, Scoliosis, Anterior rib cupping, Platyspondyly, Narrow chest OMIM:602271
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Myopathy OMIM:300219
Central Core Disease
Myopathy, Type 1 muscle fiber predominance, Central core regions in muscle fibers, Nemaline bodie... ORPHA:597
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Scoliosis, Vertebral fusion, Supernumerary vertebrae, Short neck, Short ribs, Missing ribs, Thin ... OMIM:271520
Kbg Syndrome
Scoliosis, Vertebral fusion, Thoracic kyphosis, Persistent open anterior fontanelle, Short neck, ... ORPHA:2332
Momo Syndrome
Congenital pseudoarthrosis of the clavicle, Short sternum, Femoral bowing, Abnormal bone ossifica... ORPHA:2563
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Neonatal respiratory distress, Camptodactyly, Calcaneovalgus deformity, Umbilical hernia, Respira... OMIM:616266
Chromosome 8Q22.1 Duplication Syndrome
Cervical C2/C3 vertebral fusion, Joint stiffness, Genu recurvatum, Cubitus valgus, Limitation of ... OMIM:151200
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter OMIM:614096
Vacterl Association With Hydrocephalus
Radial club hand, Respiratory insufficiency, Stillbirth, Respiratory failure, Absent thumb OMIM:276950
Microcephaly, Short Stature, And Limb Abnormalities
Patellar aplasia, Dislocated radial head, Short metacarpal, Patellar hypoplasia, Mesomelia, Clino... OMIM:617604
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Upper limb muscle weakness ORPHA:370010
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Metaphyseal spurs, Thoracic hypoplasia, Pectus excavatum, Limited elbow extension, Metaphyseal wi... OMIM:608728
Osteogenesis Imperfecta, Type Xviii
Generalized osteoporosis, Thin ribs, Wormian bones, Vertebral compression fracture, Joint laxity,... OMIM:617952
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Craniosynostosis, Pectus excavatum, Vertebral fusion, Overlapping toe, Long fingers, Narrow chest... OMIM:213980
Neuropathy, Congenital Hypomyelinating, 3
Arthrogryposis multiplex congenita, Facial diplegia, Hypomimic face, Respiratory insufficiency, N... OMIM:618186
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Scoliosis, Lumbar hyperlordosis, Irregular vertebral endplates, Flat acetabular roof, Delayed oss... OMIM:609616
Congenital Muscular Dystrophy Due To Lmna Mutation
Myopathy, Respiratory insufficiency, Skeletal muscle atrophy, Death in infancy, Narrow chest, Joi... ORPHA:157973
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Myopathy OMIM:125250
Developmental And Speech Delay Due To Sox5 Deficiency
Scoliosis, Lumbar hyperlordosis, Butterfly vertebrae, Vertebral fusion, Thoracic kyphoscoliosis, ... ORPHA:313892
Schinzel-Giedion Midface Retraction Syndrome
Macroglossia, Short distal phalanx of finger, Short 1st metacarpal, Long clavicles, Hypoplasia of... OMIM:269150
Proximal Spinal Muscular Atrophy
Neonatal respiratory distress, Hip dislocation, Thoracic kyphosis, Facial diplegia, Distal lower ... ORPHA:70
Mitochondrial Complex I Deficiency, Nuclear Type 21
Ragged-red muscle fibers, Myopathy OMIM:618242
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Myopathy, Lower limb muscle weakness, EMG: myopathic abnormalities, Fatty replacement of skeletal... ORPHA:397744
Kearns-Sayre Syndrome
Skeletal muscle atrophy, Ragged-red muscle fibers ORPHA:480
Mosaic Trisomy 20
Down-sloping shoulders, Scoliosis, Vertebral fusion, Limited pronation/supination of forearm, Kyp... ORPHA:1724
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Lower limb muscle weakness, Respiratory insufficiency due to muscle weakness, Respiratory failure... ORPHA:2590
White Forelock With Malformations
Abnormal rib morphology, Spina bifida occulta, Sprengel anomaly, Joint hyperflexibility, Delayed ... ORPHA:2475
Frontometaphyseal Dysplasia
Craniosynostosis, Camptodactyly of finger, Scoliosis, Hypotrophy of the small hand muscles, Dislo... ORPHA:1826
Mosaic Trisomy 14
Abnormal rib morphology, Camptodactyly of finger, Narrow chest, Short neck ORPHA:1703
Metaphyseal Chondrodysplasia, Schmid Type
Hip dysplasia, Radial metaphyseal irregularity, Metaphyseal cupping, Metaphyseal irregularity, Pr... ORPHA:174
Aicardi Syndrome
Hip dysplasia, Missing ribs, Supernumerary ribs, Small hand, Rib fusion, Bifid ribs, Block vertebrae ORPHA:50
Achondrogenesis Type 1B
Short neck, Abnormal enchondral ossification, Abnormal rib morphology, Narrow chest, Short thorax ORPHA:93298
Diastrophic Dysplasia
Increased bone mineral density, Camptodactyly of finger, Scoliosis, Joint stiffness, Joint disloc... ORPHA:628
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Clinodactyly of the 5th toe, Proximal placement of thumb, Short sternum, Clinodactyly of the 4th ... OMIM:620113
Momo Syndrome
Short sternum OMIM:157980
Lymphangiectasia, Intestinal
Stillbirth, Prominent floating ribs OMIM:152800
Osteogenesis Imperfecta, Type Iii
Scoliosis, Severe generalized osteoporosis, Wide anterior fontanel, Thin ribs, Wormian bones, Mul... OMIM:259420
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Abnormal vertebral segmentation and fusion, Short neck OMIM:244600
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers OMIM:619024
Muscular Dystrophy, Duchenne Type
Restrictive ventilatory defect, Muscular dystrophy, Hamstring contractures, Knee flexion contract... OMIM:310200
Autosomal Recessive Spondylocostal Dysostosis
Camptodactyly of finger, Scoliosis, Short thorax, Short neck, Kyphosis, Abnormal rib morphology, ... ORPHA:2311
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Macroglossia, Diastasis recti, Camptodactyly, Pectus excavatum, Coat hanger sign of ribs, Thoraci... ORPHA:254528
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Neonatal respiratory distress, Congenital laryngeal stridor, 11 pairs of ribs, Respiratory insuff... OMIM:618356
Ulbright-Hodes Syndrome
Short humerus, Abnormal forearm bone morphology, Phocomelia, Short ribs, Hypoplasia of the radius... ORPHA:3404
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Long clavicles, Short tibia, Abnormality of the costochondral junction, Undulate ribs, Epiphyseal... ORPHA:96334
Myoclonus, Intractable, Neonatal
Increased variability in muscle fiber diameter OMIM:617235
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Pulmonary arterial hypertension, Dyspnea, Clubbing, Death in infan... OMIM:265120
Meier-Gorlin Syndrome 3
Patellar aplasia, Tracheomalacia, Dyspnea, Short thorax, Genu varum, Short ribs, Patellar hypopla... OMIM:613803
Lethal Congenital Contracture Syndrome 9
Flexion contracture, Abnormality of the diaphragm, Myopathy, Elbow extension contracture, Muscle ... OMIM:616503
Otopalatodigital Syndrome, Type Ii
Short thumb, Short metatarsal, Rocker bottom foot, Toe syndactyly, Broad thumb, Short hallux, Res... OMIM:304120
Tarp Syndrome
Pectus excavatum, Hand polydactyly, Hypoplasia of proximal radius, Postaxial polydactyly, Finger ... ORPHA:2886
Cornelia De Lange Syndrome 1
Limited elbow extension, Phocomelia, Hypoplastic radial head, Proximal placement of thumb, Hypopl... OMIM:122470
Weaver Syndrome
Calcaneovalgus deformity, Broad thumb, Limited knee extension, Joint contracture of the hand, Dia... OMIM:277590
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Macroglossia, Scoliosis, Vertebral fusion, Shoulder girdle muscle weakness, Kyphosis, Achilles te... OMIM:607155
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Macroglossia, Myopathy, Increased muscle glycogen content, Increased muscle lipid content, Ragged... ORPHA:254864
Cdags Syndrome
Coronal craniosynostosis, Short ribs, Short clavicles, Delayed cranial suture closure, Lambdoidal... OMIM:603116
Myopathic Ehlers-Danlos Syndrome
Decreased muscle mass, Weakness of facial musculature, Knee flexion contracture, Shoulder flexion... ORPHA:536516
Congenital Myasthenic Syndromes With Glycosylation Defect
Myopathy, Type 1 muscle fiber predominance, Knee flexion contracture, Muscle fiber tubular inclus... ORPHA:353327
Mucopolysaccharidosis Type 4
Reduced bone mineral density, Scoliosis, Short neck, Joint dislocation, Kyphosis, Platyspondyly, ... ORPHA:582
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Shashi-Pena Syndrome
Scoliosis, Limb hypertonia, Osteoporosis, Kyphosis, Accelerated skeletal maturation, Cervical C2/... OMIM:617190
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in childhood, Neonatal respiratory distress, Respiratory insufficiency, Skeletal muscle atr... OMIM:245400
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Thoracic dysplasia, Horizontal ribs, Lateral clavicle hook, Polysyndactyly of hallux, Short ribs,... OMIM:263520
Noonan Syndrome 12
Pectus excavatum, Proximal placement of thumb, 11 pairs of ribs OMIM:618624
Asbestos Intoxication
Dyspnea, Wheezing, Late inspiratory crackles, Decreased DLCO, Restrictive ventilatory defect, Hyp... ORPHA:2302
Cap Myopathy
Lower limb amyotrophy, Lower limb muscle weakness, Abnormal muscle fiber morphology, Facial palsy... ORPHA:171881
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Type 1 muscle fiber predominance, Facial palsy, Congenit... OMIM:254090
Thoracic Dysplasia-Hydrocephalus Syndrome
Narrow chest, Abnormal metaphysis morphology, Respiratory failure, Limb undergrowth ORPHA:1861
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Rhizomelia, Narrow chest, 11 pairs of ribs OMIM:617661
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Arthrogryposis multiplex congenita, Minicore myopathy, Respiratory insufficiency, Bell-shaped tho... ORPHA:178148
Osteogenesis Imperfecta, Type Xvi
Beaded ribs, Wormian bones, Vertebral compression fracture, Osteopenia, Platyspondyly, Decreased ... OMIM:616229
Ring Chromosome 21 Syndrome
Abnormal thorax morphology, Fused thoracic vertebrae, Scoliosis, Thoracic hemivertebrae ORPHA:1445
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Scoliosis, Vertebral wedging, Biconvex vertebral bodies, Increased susceptibility to fractures, I... ORPHA:93315
Osteogenesis Imperfecta, Type Ii
Thoracic hypoplasia, Beaded ribs, Thin ribs, Multiple prenatal fractures, Wormian bones, Absent o... OMIM:166210
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Fiber type grouping, Myopathy, Weakness of facial musculature, Skeletal muscle atrophy, Scapular ... OMIM:607459
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Scoliosis, Anterior rib cupping, Platyspondyly, Pectus carinatum, Genu valgum, Delayed pubic bone... OMIM:184250
Sifrim-Hitz-Weiss Syndrome
Fused cervical vertebrae, Flat acetabular roof, Wormian bones, Short clavicles OMIM:617159
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Horizontal ribs, Narrow greater sciatic notch, Lateral clavicle hook, Long thorax, Preaxial polyd... OMIM:617925
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Craniofacial hyperostosis, Skeletal muscle atrophy, Abnormal rib morphology, Facial palsy, Pectus... ORPHA:3068
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short ribs, Rhizomelia, Short tibia, Short femur, Respiratory distress, Recurrent ... OMIM:607143
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormal rib morphology, Decreased calvarial ossification, Joint hyperflexibility, Recurrent frac... ORPHA:2772
Aicardi Syndrome
Proximal placement of thumb, Missing ribs, Supernumerary ribs, Rib fusion, Bifid ribs, Block vert... OMIM:304050
Achondrogenesis Type 1A
Short thorax, Short neck, Abnormal enchondral ossification, Narrow chest, Recurrent fractures, Mu... ORPHA:93299
Turnpenny-Fry Syndrome
Pectus excavatum, Torticollis, Long thorax, Overlapping toe, Thoracic kyphoscoliosis, Tapered fin... OMIM:618371
Diaphanospondylodysostosis
Thoracic hypoplasia, Tracheomalacia, Respiratory insufficiency, Absent in utero rib ossification,... OMIM:608022
Scapuloperoneal Spinal Muscular Atrophy
Clinodactyly, Torticollis, Peroneal muscle atrophy, Muscle fiber splitting, Hip dysplasia, Respir... OMIM:181405
10Q22.3Q23.3 Microduplication Syndrome
Abnormal rib morphology, Microretrognathia, Abnormal clavicle morphology ORPHA:276422
Lethal Congenital Contracture Syndrome 2
Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Respiratory failure, Micrognathia OMIM:607598
Ulnar Hemimelia
Abnormal calcification of the carpal bones, Aplasia of metacarpal bones, Abnormality of the humer... ORPHA:93320
Juberg-Hayward Syndrome
Scoliosis, Abnormality of the elbow, Abnormality of the wrist, Abnormal rib morphology, Radioulna... ORPHA:2319
Holt-Oram Syndrome
Down-sloping shoulders, Pectus excavatum, Abnormality of the humerus, Joint stiffness, Phocomelia... ORPHA:392
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Aspiration pneumonia, Respiratory failure OMIM:619057
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Facial diplegia, EMG: myopathic abnormalities, Generalized amyotrophy, Ragged-red muscle fibers, ... OMIM:609560
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Preaxial polydactyly, Postaxial polydactyly, Short ribs, Anencephaly, Occipital meningocele, Apla... OMIM:616546
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Rhabdomyolysis, Weakness of facial musculature, Ragged-red muscle fibers OMIM:618416
Radio-Renal Syndrome
Dyspnea, Pleural effusion, Abnormality of the elbow, Micromelia, Abnormal rib morphology, Respira... ORPHA:3015
Spondylometaphyseal Dysplasia, Kozlowski Type
Scoliosis, Short neck, Flat acetabular roof, Delayed ossification of carpal bones, Abnormal rib c... OMIM:184252
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Central sleep apnea, Apnea, Respiratory failure, Split hand ORPHA:168486
Mucopolysaccharidosis, Type Iva
Ulnar deviation of the wrist, Scoliosis, Large elbow, Short neck, Ovoid vertebral bodies, Cervica... OMIM:253000
Osteogenesis Imperfecta, Type Viii
Scoliosis, Wide anterior fontanel, Thin ribs, Multiple prenatal fractures, Osteopenia, Wormian bo... OMIM:610915
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Respiratory failure, Apnea OMIM:616277
Melnick-Needles Syndrome
Craniofacial hyperostosis, Scoliosis, Hip dislocation, Abnormal cortical bone morphology, Anisosp... ORPHA:2484
Mucopolysaccharidosis, Type X
Scoliosis, Spatulate ribs, Left ventricular hypertrophy, Broad ribs, Broad clavicles, Platyspondy... OMIM:619698
Caudal Regression Syndrome
Abnormal iliac wing morphology, Joint stiffness, Decreased muscle mass, Missing ribs, Hypoplastic... ORPHA:3027
Surfactant Metabolism Dysfunction, Pulmonary, 3
Neonatal respiratory distress, Dyspnea, Clubbing, Cough, Paraseptal emphysema, Hypoxemia, Death i... OMIM:610921
Lipodystrophy, Congenital Generalized, Type 4
Muscular dystrophy, Skeletal muscle hypertrophy, Centrally nucleated skeletal muscle fibers, Incr... OMIM:613327
Cree Mental Retardation Syndrome
Aplasia/Hypoplasia of the ribs, Pectus excavatum, Rocker bottom foot, Micrognathia, Cutaneous fin... OMIM:606851
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dyspnea, Myopathy, Weakness of facial musculature, Respiratory insufficiency due to muscle weakne... ORPHA:352447
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Scoliosis, Hemivertebrae, Abnormal rib morphology, Sprengel anomaly, Abnormal form of the vertebr... ORPHA:2180
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aplasia/Hypoplasia of the ribs, Pectus excavatum, Thoracic hemivertebrae, Hip dislocation, Genera... ORPHA:508498
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Enlargement of the costochondral junction, Thin bony cortex, Deformed rib cage, Bulging ... OMIM:600081
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Joubert Syndrome 21
Encephalocele, Chronic sinusitis, Dyspnea, Short ribs, Occipital encephalocele, Apnea, Bell-shape... OMIM:615636
Mosaic Variegated Aneuploidy Syndrome 1
Short sternum, Embryonal rhabdomyosarcoma, Micrognathia OMIM:257300
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:280195
Atelosteogenesis, Type Ii
Thoracic hypoplasia, Dumbbell-shaped femur, Short greater sciatic notch, Limb undergrowth, Respir... OMIM:256050
Acrofacial Dysostosis Syndrome Of Rodriguez
Oligodactyly, 11 pairs of ribs, Overlapping toe, Short tibia, Micrognathia, Clinodactyly, Fibular... OMIM:201170
Duane-Radial Ray Syndrome
Scoliosis, Small thenar eminence, Upper limb muscle hypoplasia, Shoulder dislocation, Pectoralis ... OMIM:607323
Microcephaly-Micromelia Syndrome
Craniosynostosis, Forearm undergrowth, Oligodactyly, Absent radius, Missing ribs, Short tibia, Ne... OMIM:251230
Glycogen Storage Disease Due To Aldolase A Deficiency