| 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 |
|
Bell-shaped thorax, Short ribs |
OMIM:273740 |
| Thoracic Dysostosis, Isolated |
|
Pectus excavatum, Bell-shaped thorax, Short ribs |
OMIM:187750 |
| Cervical Rib |
|
Cervical ribs |
OMIM:117900 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
| Myopathy, Sarcoplasmic Body |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:620286 |
| Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscl... |
ORPHA:2593 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Short ribs, Brachyda... |
OMIM:617405 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-... |
OMIM:615424 |
| Spinal Muscular Atrophy, Type Iv |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... |
OMIM:271150 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... |
OMIM:617158 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:619733 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... |
OMIM:618655 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:301075 |
| Polyglucosan Body Myopathy 2 |
|
Muscle fiber inclusion bodies, Hand muscle weakness, Shoulder girdle muscle weakness, Muscle fibe... |
OMIM:616199 |
| Myopathy, Myofibrillar, 3 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... |
OMIM:609200 |
| Tibial Muscular Dystrophy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
ORPHA:609 |
| Rhabdomyolysis, Susceptibility To, 1 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... |
OMIM:620235 |
| Thoracopelvic Dysostosis |
|
Short ribs |
OMIM:187770 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Fatty re... |
OMIM:618848 |
| Poland Syndrome |
|
Hypoplasia of latissimus dorsi muscle, Absence of pectoralis minor muscle, Hypoplasia of deltoid ... |
OMIM:173800 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... |
OMIM:617760 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Proximal lower limb am... |
OMIM:158600 |
| Myopathy, Distal, Tateyama Type |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ... |
OMIM:614321 |
| Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Shoulder girdle ... |
OMIM:601846 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy... |
OMIM:608423 |
| 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 |
| Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... |
OMIM:117000 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... |
OMIM:254110 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... |
OMIM:618129 |
| Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Muscular dystrophy, C... |
OMIM:613530 |
| Myopathy, Centronuclear, 4 |
|
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance |
OMIM:614807 |
| Inclusion Body Myositis |
|
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... |
ORPHA:611 |
| Nonaka Myopathy |
|
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal lower... |
OMIM:605820 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:612999 |
| Myopathy, Scapulohumeroperoneal |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... |
OMIM:616852 |
| Congenital Myopathy 18 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Fatty... |
OMIM:620246 |
| Myopathy, Distal, 5 |
|
Rimmed vacuoles, Distal amyotrophy, Myopathy, Weakness of facial musculature, Distal lower limb m... |
OMIM:617030 |
| Gne Myopathy |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... |
ORPHA:602 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae... |
ORPHA:2064 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... |
OMIM:619178 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... |
OMIM:601954 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 |
|
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Respiratory insufficienc... |
OMIM:617232 |
| Metatropic Dysplasia |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace... |
OMIM:156530 |
| Ophthalmoplegia, External, With Rib And Vertebral Anomalies |
|
Pectus carinatum, Short ribs, Missing ribs, Pseudoarthrosis, Torticollis, Pectus excavatum |
OMIM:618155 |
| Welander Distal Myopathy |
|
Rimmed vacuoles, Distal amyotrophy |
OMIM:604454 |
| Myopathy, Centronuclear, 1 |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Type 1 muscl... |
OMIM:160150 |
| Myasthenic Syndrome, Congenital, 14 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... |
OMIM:616228 |
| Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Z-band streaming, Type 1 muscle fi... |
OMIM:618823 |
| Isolated Klippel-Feil Syndrome |
|
Abnormality of the vertebral column, Abnormal shoulder morphology, Congenital muscular torticolli... |
ORPHA:2345 |
| Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc... |
OMIM:608358 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... |
ORPHA:178464 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Limited k... |
ORPHA:266 |
| Myopathy, Vacuolar, With Casq1 Aggregates |
|
Muscle fiber calsequestrin 1-containing inclusion bodies |
OMIM:616231 |
| Kyphomelic Dysplasia |
|
Narrow chest, Limitation of joint mobility, Micromelia, Joint stiffness, Micrognathia, Undulate r... |
ORPHA:1801 |
| Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Z-band streaming, Foot ... |
OMIM:181400 |
| Oculopharyngodistal Myopathy 2 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Increased endomysial connective ... |
OMIM:618940 |
| Thoracolaryngopelvic Dysplasia |
|
Hypoplastic iliac wing, Hypoplastic pelvis, Bell-shaped thorax, Horizontal ribs, Short ribs, Meta... |
OMIM:187760 |
| Lethal Congenital Contracture Syndrome 3 |
|
Skeletal muscle atrophy, Respiratory insufficiency, Multiple joint contractures, Neonatal death, ... |
OMIM:611369 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Scoliosis, Fused cervical vertebrae |
OMIM:214300 |
| Spondylocostal Dysostosis 5 |
|
Pectus carinatum, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Short neck, Low back pai... |
OMIM:122600 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopathy, Flexi... |
OMIM:609115 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Spinal instability, Vertebral fusion |
OMIM:251250 |
| Thoracomelic Dysplasia |
|
Abnormal pelvic girdle bone morphology, Narrow chest, Elbow dislocation, Genu valgum, Bell-shaped... |
ORPHA:1803 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... |
OMIM:620402 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Block vertebrae, Abnormal odontoid process morphology, Death in infancy, Kyphoscoliosis, Rib fusi... |
OMIM:277300 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Short neck, Fused thoracic vertebrae, Antecubital pterygium, Tarsal synostosis, Scoliosis, Flexio... |
OMIM:618469 |
| Fibrochondrogenesis 2 |
|
Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Bell-shaped thorax, Micrognathia, Sho... |
OMIM:614524 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Fused cervical vertebrae, Abnormal sacrum morphology, Scoliosis, Thoracic hemivertebrae |
ORPHA:1436 |
| Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor... |
ORPHA:2790 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Pectus carinatum, Delayed skeletal maturation, Radioulnar synostosis, Abnormal rib morphology, Sc... |
ORPHA:3268 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:617072 |
| Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter |
OMIM:302045 |
| Myasthenic Syndrome, Congenital, 17 |
|
Type 1 muscle fiber predominance |
OMIM:616304 |
| Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Micromelia, Flared metaphysis, ... |
OMIM:187601 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ... |
ORPHA:34516 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Ty... |
OMIM:619042 |
| Achondrogenesis, Type Ib |
|
Hypoplastic ilia, Narrow chest, Micromelia, Umbilical hernia, Absent or minimally ossified verteb... |
OMIM:600972 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Muscle fibe... |
OMIM:615422 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:617066 |
| Distal Myopathy, Welander Type |
|
Rimmed vacuoles, Distal upper limb amyotrophy, Foot dorsiflexor weakness, Myopathy, Intrinsic han... |
ORPHA:603 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
ORPHA:86812 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28 |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... |
OMIM:620375 |
| Inclusion Body Myositis |
|
Rimmed vacuoles, Inflammatory myopathy |
OMIM:147421 |
| Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting |
OMIM:609524 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hypoplastic ilia, Pectus carinatum, Delayed vertebral ossification, Long hallux, Hypoplastic ilia... |
OMIM:613330 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... |
OMIM:611705 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Scapular winging, Weakness of facial musculature, Angulated muscle fibers, Shoulder girdle muscle... |
OMIM:619477 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal joint of the 2nd ... |
OMIM:609813 |
| Christian Syndrome |
|
Fused cervical vertebrae, Scoliosis, Prominent metopic ridge, Thoracic hemivertebrae |
OMIM:309620 |
| Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... |
OMIM:620386 |
| Axial Spondylometaphyseal Dysplasia |
|
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula... |
ORPHA:168549 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Nemaline bodies, Fusion of midcervical facet joints, Limb muscle weakness, Widening of cervical s... |
OMIM:606842 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae |
OMIM:608681 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... |
OMIM:608807 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... |
OMIM:253601 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Short neck, Hyperlordosis, Abnormal rib morphology, Pectus excavatu... |
ORPHA:2522 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness in lower limbs |
ORPHA:1878 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic reducing inclusion ... |
OMIM:300717 |
| Diaphanospondylodysostosis |
|
Absent or minimally ossified vertebral bodies, Missing ribs, Short neck, Abnormal vertebral segme... |
ORPHA:66637 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con... |
OMIM:608099 |
| Achondrogenesis Type 2 |
|
Hypoplastic ilia, Narrow chest, Cardiorespiratory arrest, Micromelia, Absent vertebral body miner... |
ORPHA:93296 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Ragged-red musc... |
ORPHA:457050 |
| Sprengel Deformity |
|
Neck muscle hypoplasia, Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bi... |
OMIM:184400 |
| Multiple Synostoses Syndrome 2 |
|
Carpal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symphalangism, Vertebr... |
OMIM:610017 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:620138 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ... |
ORPHA:1145 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Congenital muscular torticollis, Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, A... |
OMIM:118100 |
| Chondrodysplasia, Blomstrand Type |
|
Narrow chest, Micromelia, Flared metaphysis, Advanced tarsal ossification, Micrognathia, Short ri... |
OMIM:215045 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... |
OMIM:613204 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Myopathy |
OMIM:609500 |
| Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Facial palsy, Ragged-red muscle fibers |
OMIM:616209 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
| Cardiomyopathy, Dilated, 1X |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy |
OMIM:611615 |
| Congenital Myopathy 20 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... |
OMIM:620310 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Neonatal respiratory distress, Narrow chest, Coarse metaphyseal trabecularization, Death in child... |
OMIM:618961 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... |
ORPHA:206549 |
| Heart Defects-Limb Shortening Syndrome |
|
Narrow chest, Abnormal form of the vertebral bodies, Death in infancy, Accelerated skeletal matur... |
ORPHA:1354 |
| Spinal Muscular Atrophy, Type I |
|
Proximal muscle weakness in lower limbs, Respiratory insufficiency, Death in childhood, Spinal mu... |
OMIM:253300 |
| Benign Samaritan Congenital Myopathy |
|
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers |
ORPHA:324581 |
| Tibial Muscular Dystrophy, Tardive |
|
Rimmed vacuoles, Muscular dystrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, ... |
OMIM:600334 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... |
ORPHA:399058 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... |
OMIM:618484 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:616812 |
| Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy |
OMIM:159050 |
| Distal Myopathy, Tateyama Type |
|
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... |
ORPHA:488650 |
| Mitochondrial Myopathy With Diabetes |
|
Weakness of orbicularis oculi muscle, Limb muscle weakness, Ragged-red muscle fibers, Proximal am... |
OMIM:500002 |
| Seckel Syndrome 4 |
|
11 pairs of ribs, Steep acetabular roof |
OMIM:613676 |
| Distal Myopathy With Anterior Tibial Onset |
|
Finger flexor weakness, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles, Li... |
ORPHA:178400 |
| Congenital Myopathy 3 With Rigid Spine |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:602771 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
| Dysosteosclerosis |
|
Absent paranasal sinuses, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Diaphysea... |
OMIM:224300 |
| Oculopharyngeal Muscular Dystrophy |
|
Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Abnormal muscle fiber morphology |
ORPHA:270 |
| Bethlem Myopathy 2 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Scapular winging, Myopathy |
OMIM:616471 |
| Congenital Myopathy 8 |
|
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Type 1 muscle fiber predomi... |
OMIM:618654 |
| Myopathy, Tubular Aggregate, 1 |
|
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Myopathy, Weakn... |
OMIM:160565 |
| Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis |
OMIM:616566 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hamstri... |
OMIM:300696 |
| Fetal Akinesia Deformation Sequence 4 |
|
Skeletal muscle atrophy, 11 pairs of ribs, Micrognathia, Prenatal death, Neonatal death, Camptoda... |
OMIM:618393 |
| X-Linked Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... |
ORPHA:596 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... |
OMIM:255320 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Pectus carinatum, Short finger, Hyperextensibility of the finger joints, Respiratory insufficienc... |
OMIM:313420 |
| Pontocerebellar Hypoplasia, Type 1C |
|
Skeletal muscle atrophy, Respiratory insufficiency, Death in childhood, Spinal muscular atrophy, ... |
OMIM:616081 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Centr... |
ORPHA:401768 |
| Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
| Congenital Myopathy 14 |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... |
OMIM:618414 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty... |
OMIM:616313 |
| Miyoshi Muscular Dystrophy 1 |
|
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Lower lim... |
OMIM:254130 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Flexion contracture, Muscle fibe... |
OMIM:300718 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular... |
OMIM:619566 |
| Nemaline Myopathy 6 |
|
Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Myopathy, Facial palsy |
OMIM:609273 |
| Metatropic Dysplasia |
|
Narrow chest, Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Hypoplastic... |
ORPHA:2635 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... |
OMIM:612937 |
| Nemaline Myopathy 8 |
|
Nemaline bodies, Myofibrillar myopathy, Death in infancy, Flexion contracture, Facial palsy, Resp... |
OMIM:615348 |
| Amyotrophic Lateral Sclerosis 28 |
|
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... |
OMIM:620452 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Narrow chest, Thoracic hypoplasia, Stillbirth, Umbilical hernia, Advanced t... |
OMIM:269250 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... |
OMIM:616924 |
| Second Metatarsal-Metacarpal Syndrome |
|
Platyspondyly, Synostosis of carpals/tarsals |
OMIM:269630 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Hypoplasia of the capital femoral epiphysis, Limb muscle weakness, Hand muscle atrophy, Joint hyp... |
OMIM:600561 |
| Osteogenesis Imperfecta, Type Ix |
|
Platyspondyly, Pectus carinatum, Kyphosis, Bowing of limbs due to multiple fractures, Decreased c... |
OMIM:259440 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou... |
OMIM:603689 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Hypoplastic ilia, Narrow chest, Thoracic hypoplasia, Lateral clavicle hook, Micromelia, Horizonta... |
OMIM:617895 |
| Oculopharyngeal Muscular Dystrophy 1 |
|
Facial palsy, Limb muscle weakness, Ragged-red muscle fibers |
OMIM:164300 |
| Thanatophoric Dysplasia, Type I |
|
Small abnormally formed scapulae, Hypoplastic ilia, Neonatal respiratory distress, Narrow chest, ... |
OMIM:187600 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... |
ORPHA:486815 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Narrow chest, Rhizomelia, Abnormal epiphysis morphology, Micromelia, Abnormal diaphysis morpholog... |
ORPHA:1842 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Periostitis, Broad ribs, Osteomyelitis, Joint swelling, Flaring of rib cage, Osteolys... |
OMIM:612852 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Scapuloperoneal amy... |
OMIM:255160 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... |
OMIM:253700 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Proximal muscle weakness in upper limbs, Increased endomysial connective tissue, Lower limb muscl... |
OMIM:620068 |
| Ullrich Congenital Muscular Dystrophy |
|
Slender finger, Increased variability in muscle fiber diameter, Increased endomysial connective t... |
ORPHA:75840 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal amyotrophy, Skeletal... |
OMIM:614302 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Facial palsy, Ragged-red muscle fibers |
OMIM:609283 |
| Kniest Dysplasia |
|
Delayed epiphyseal ossification, Platyspondyly, Hypoplasia of the odontoid process, Vertebral wed... |
ORPHA:485 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... |
OMIM:255310 |
| Heyn-Sproul-Jackson Syndrome |
|
11 pairs of ribs, Broad phalanx, Short phalanx of finger, Short metacarpal, Broad metacarpals |
OMIM:618724 |
| Achondrogenesis, Type Ia |
|
Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Severe... |
OMIM:200600 |
| Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Muscular dystrophy, Respiratory failure, Death in infancy, Respiratory insufficiency |
OMIM:613869 |
| Congenital Myopathy 6 With Ophthalmoplegia |
|
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac... |
OMIM:605637 |
| Congenital Myopathy 10A, Severe Variant |
|
Increased variability in muscle fiber diameter, Camptodactyly of finger, Respiratory insufficienc... |
OMIM:614399 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal cupping, Flat glenoid fossa, Irregular iliac crest, Irregular chondrocostal junctions... |
OMIM:250420 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Pectus carinatum, Irregular patellae, Hypoplasia of the capital femoral epiphysis, Metaphyseal sc... |
OMIM:609052 |
| Fibrochondrogenesis 1 |
|
Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Small hand, Broad long bones, Bro... |
OMIM:228520 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Thin ribs, Hypoplastic ilia, Metaphyseal cupping, Narrow chest, Thoracolumbar kyphosis, Radial bo... |
OMIM:151210 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Limitation of joint mobility, Flared, irregular rib ends |
ORPHA:168555 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10 |
|
Increased endomysial connective tissue, Increased variability in muscle fiber diameter, Skeletal ... |
OMIM:620542 |
| Frontometaphyseal Dysplasia 1 |
|
Hypoplasia of the musculature, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited... |
OMIM:305620 |
| Multiple Synostoses Syndrome 1 |
|
Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l... |
OMIM:186500 |
| Adult-Onset Nemaline Myopathy |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... |
ORPHA:171442 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... |
OMIM:618138 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... |
ORPHA:276435 |
| Muscular Dystrophy, Congenital, 1B |
|
Sternocleidomastoid amyotrophy, Muscular dystrophy, Shoulder girdle muscle weakness, Pectoralis a... |
OMIM:604801 |
| Oculopharyngodistal Myopathy 3 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... |
OMIM:619473 |
| Arthrogryposis Multiplex Congenita 6 |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Death in childhood, Death in inf... |
OMIM:619334 |
| Three M Syndrome 1 |
|
Short 5th finger, Neonatal respiratory distress, Joint dislocation, Slender long bone, Hypoplasti... |
OMIM:273750 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti... |
OMIM:613157 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... |
OMIM:620265 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Death in infancy, Vertebral segmentation defect, Short thorax, Vertebral fusion, Sacral dimple |
OMIM:618845 |
| Myopathy, Centronuclear, 2 |
|
Centrally nucleated skeletal muscle fibers, Scapular winging, Flexion contracture, Facial palsy, ... |
OMIM:255200 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Scapular winging, Weakness of facial musculature |
OMIM:617069 |
| Oculopharyngodistal Myopathy 4 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Weakness of facial musculature, ... |
OMIM:619790 |
| Myopathy, Centronuclear, 5 |
|
Centrally nucleated skeletal muscle fibers, Hip contracture, Weakness of facial musculature |
OMIM:615959 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Frontalis muscle weakness, Myo... |
OMIM:300580 |
| Acrocapitofemoral Dysplasia |
|
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... |
OMIM:607778 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Thoracic hypoplasia, Thoracic dysplasia, Genu valgum, Bell-shaped thorax, Short ribs, Brachydacty... |
OMIM:615630 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Delayed epiphyseal ossification, Fibular overgrowth, Micromelia, Short femoral neck, Flared metap... |
OMIM:602557 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Rimmed va... |
OMIM:619518 |
| Merrf |
|
Ragged-red muscle fibers, Myopathy |
ORPHA:551 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Delayed epiphyseal ossification, Metaphyseal cupping, Narrow chest, Micromelia, Wide distal femor... |
OMIM:613320 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Hypoplastic ilia, Narrow chest, Limitation of joint mobility, Micromelia, Broad long bones, Clubb... |
ORPHA:1865 |
| Amyotrophic Lateral Sclerosis 20 |
|
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy |
OMIM:615426 |
| Pyknoachondrogenesis |
|
Abnormal intramembranous ossification, Craniofacial hyperostosis, Short iliac bones, Micromelia, ... |
ORPHA:3003 |
| Intermediate Nemaline Myopathy |
|
Nemaline bodies, Skeletal muscle atrophy, Abnormal thorax morphology, Facial diplegia, Type 1 mus... |
ORPHA:171433 |
| Sandhoff Disease, Adult Form |
|
Proximal muscle weakness in lower limbs, Muscle fiber atrophy, Upper limb muscle weakness |
ORPHA:309169 |
| Pallister-Hall-Like Syndrome |
|
Toe syndactyly, Postaxial foot polydactyly, Occipital encephalocele, Micromelia, Micrognathia, De... |
OMIM:241800 |
| Wildervanck Syndrome |
|
Short neck, Fused cervical vertebrae |
ORPHA:3456 |
| Myopathy, Myofibrillar, 8 |
|
Centrally nucleated skeletal muscle fibers, Nemaline bodies, Limb muscle weakness, Joint contract... |
OMIM:617258 |
| Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Abnormality of the cervical spine, Superior rib anomalies |
OMIM:307500 |
| Achondrogenesis, Type Ii |
|
Microretrognathia, Broad long bones, Short tubular bones of the hand, Hypoplastic iliac wing, Abs... |
OMIM:200610 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy |
ORPHA:238329 |
| Amyotrophic Lateral Sclerosis 21 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... |
OMIM:606070 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Micrognathia, Facial diplegia, Neonatal death, Hip dysplasia, Rocker bot... |
OMIM:611890 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Rimmed vacuoles, Joint contracture of the hand, Intrinsic hand muscle atrophy, Weakness of the in... |
ORPHA:399086 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Nemaline bodies, Acetabular dysplasia, Myopathy, Cervical C2/C3 vertebral fusion, Short neck, Tho... |
OMIM:616549 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Block vertebrae, Abnormal odontoid process morphology, Bell-shaped thorax, Vertebral segmentation... |
OMIM:613686 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Facial palsy, Flexion contrac... |
OMIM:616470 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Short thorax, Abnormal sacrum morphology, Vertebral segmentation defect, Missing ribs, Short neck... |
ORPHA:1797 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Joint contracture of the hand, Narrow chest, Limitation of joint mobility, Micromelia, Broad long... |
OMIM:224400 |
| Congenital Myopathy 15 |
|
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Weakness of fac... |
OMIM:620161 |
| Fibrochondrogenesis |
|
Hypoplastic scapulae, Narrow chest, Micromelia, Abnormal diaphysis morphology, Camptodactyly of f... |
ORPHA:2021 |
| Thoraco-Abdominal Enteric Duplication |
|
Missing ribs, Respiratory insufficiency, Meningocele, Camptodactyly of finger |
ORPHA:1759 |
| Prieto Syndrome |
|
Clinodactyly, Radial deviation of finger, 11 pairs of ribs, Patellar subluxation, Patellar disloc... |
OMIM:309610 |
| Greenberg Dysplasia |
|
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Large pl... |
OMIM:215140 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Limb-girdle muscular dystrophy, Lower limb muscle weakness, Calf muscle hypertrophy, Hypoglycosyl... |
OMIM:616052 |
| Bent Bone Dysplasia Syndrome 2 |
|
Thin ribs, Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic ili... |
OMIM:620076 |
| Zebra Body Myopathy |
|
Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Myofibrillar myopathy, EMG: myo... |
ORPHA:97240 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Narrow chest, Lateral clavicle hook, Preaxial polydactyly, Thoracic dysplasia, Acetabular spurs, ... |
OMIM:615503 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of finger, Vertebral segmenta... |
ORPHA:1836 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Thoracic hypoplasia, Preaxial polydactyly, Micromelia, Micrognathia, Ulnar bowing,... |
OMIM:617866 |
| Atelosteogenesis Type Ii |
|
Hypoplastic cervical vertebrae, Elbow dislocation, Genu valgum, Bell-shaped thorax, Micrognathia,... |
ORPHA:56304 |
| Osteogenesis Imperfecta, Type Xv |
|
Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Joint hypermobility, Scolios... |
OMIM:615220 |
| Myopathy, Distal, 3 |
|
Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, EMG: myopa... |
OMIM:610099 |
| King-Denborough Syndrome |
|
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Muscle fiber atrophy, Type 1 muscl... |
OMIM:619542 |
| Autosomal Recessive Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Facial diplegia, Type 1 muscle fiber predominance, Hi... |
ORPHA:169186 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Thoracic hypoplasia, Flared metaphysis, Decreased fibular diameter, Micrognathia, Dec... |
OMIM:616897 |
| Congenital Myopathy 23 |
|
Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Type 1 muscle fi... |
OMIM:609285 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Intercrural pterygium, Dysplastic patella, Congenital diaphragmatic hernia, Patellar aplasia, Sho... |
OMIM:265000 |
| Symphalangism Of Toes |
|
Synostosis involving bones of the toes |
OMIM:185600 |
| Myopathy, Distal, 1 |
|
Rimmed vacuoles, Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Type 1 muscle fiber p... |
OMIM:160500 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated muscle fiber... |
OMIM:608340 |
| Becker Nevus Syndrome |
|
Pectus excavatum, Scoliosis, Hemivertebrae, Cervical ribs |
OMIM:604919 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Craniofacial osteosclerosis, Cortical sclerosis, Facial diplegia, Diap... |
OMIM:122860 |
| Autosomal Dominant Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... |
ORPHA:169189 |
| Nemaline Myopathy 2 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber splitting, Nemaline... |
OMIM:256030 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Abnormality of the tongue muscle, Respiratory insufficiency, Reduced muscle fiber alpha dystrogly... |
ORPHA:370968 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets |
OMIM:619065 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Rimmed vacuoles, Muscular dystrophy, Shoulder girdle muscle weakness, Facial palsy, Flexion contr... |
OMIM:603511 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim... |
ORPHA:353 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Micrognathia, Joint hypermobility, Abnormal rib morphology, Pectus excavatum, Hypoplastic distal ... |
OMIM:602196 |
| Hyperekplexia 4 |
|
Umbilical hernia, Distal arthrogryposis, Adducted thumb, Camptodactyly, Flexion contracture, Resp... |
OMIM:618011 |
| Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Respiratory insufficiency, Umbilical hernia, Abnormal hip bone morpholog... |
ORPHA:1488 |
| Scarf Syndrome |
|
Pectus carinatum, Umbilical hernia, Diastasis recti, Joint hypermobility, Short sternum, Craniosy... |
ORPHA:3134 |
| Orofaciodigital Syndrome Iii |
|
Short sternum, Postaxial foot polydactyly, Pectus excavatum, Postaxial hand polydactyly |
OMIM:258850 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Ragged-red muscle fibers, Myopathy |
OMIM:545000 |
| Hypophosphatasia, Infantile |
|
Unossified vertebral bodies, Metaphyseal cupping, Rachitic rosary, Widely patent fontanelles and ... |
OMIM:241500 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Limitation of joint mobility, Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Abn... |
ORPHA:1486 |
| Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle atrophy, Fiber type ... |
OMIM:619903 |
| Hereditary Continuous Muscle Fiber Activity |
|
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia |
ORPHA:972 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Pectus carinatum, Synostosis of carpal bones, Limitation of joint mobility, Abnormal epiphysis mo... |
ORPHA:93351 |
| Jeune Syndrome |
|
Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e... |
ORPHA:474 |
| Marinesco-Sjogren Syndrome |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Myopathy, F... |
OMIM:248800 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Thin ribs, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Rhizomelia, Distal shortening... |
OMIM:300863 |
| Lamb-Shaffer Syndrome |
|
Scoliosis, Fused cervical vertebrae, Thoracic kyphosis |
ORPHA:530983 |
| Distal Myotilinopathy |
|
EMG: myopathic abnormalities, Distal amyotrophy, Multiple joint contractures, Abnormal muscle fib... |
ORPHA:98911 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Knee dislocation, Generalized joint hypermobility, Cervical C2/C3 vertebral fusion, T... |
OMIM:618000 |
| Craniodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal rib morphology |
ORPHA:1513 |
| Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance... |
OMIM:605355 |
| Atelosteogenesis, Type I |
|
Narrow chest, Thoracic hypoplasia, Elbow dislocation, Knee dislocation, Thoracic platyspondyly, 1... |
OMIM:108720 |
| Acrodysplasia Scoliosis |
|
Spina bifida occulta, Scoliosis, Vertebral segmentation defect |
ORPHA:2956 |
| Lethal Kniest-Like Dysplasia |
|
Hypoplastic ilia, Narrow chest, Flared metaphysis, Broad long bones, Mesomelic/rhizomelic limb sh... |
ORPHA:2347 |
| Fibrodysplasia Ossificans Progressiva |
|
Broad femoral neck, Short 1st metacarpal, Small cervical vertebral bodies, Respiratory insufficie... |
OMIM:135100 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... |
OMIM:613954 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Increased variability in muscle fiber diameter, Myopathy |
OMIM:616816 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short distal phalanx of finger, Hypoplastic scapulae, Narrow chest, Micromelia, Thoracic dysplasi... |
OMIM:614091 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Narrow chest, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Postaxial polydactyly, Bra... |
OMIM:615633 |
| Muscle Filaminopathy |
|
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Weakness of facial muscula... |
ORPHA:171445 |
| Myopathy, Myofibrillar, 4 |
|
Myofibrillar myopathy, Muscle fiber splitting, Autophagic vacuoles, EMG: myopathic abnormalities |
OMIM:609452 |
| Basal Cell Nevus Syndrome 1 |
|
Short distal phalanx of the thumb, Abnormal sternum morphology, Short ribs, Polydactyly, Supernum... |
OMIM:109400 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Shoulder girdle muscle atrophy, Muscular dystrophy, Skeletal muscle atrophy, Kyphosis, Shoulder g... |
OMIM:606612 |
| Glycogen Storage Disease Ixd |
|
Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes... |
OMIM:300559 |
| Dpm3-Cdg |
|
Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness, Calf muscle hypertrophy |
ORPHA:263494 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc... |
OMIM:226670 |
| Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory failure, Death in infancy, Respiratory insufficiency |
OMIM:611722 |
| Scarf Syndrome |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Pectus carinatum, Umbilical hernia, Diasta... |
OMIM:312830 |
| Severe Congenital Nemaline Myopathy |
|
Thin ribs, Nemaline bodies, Abnormality of the diaphragm, Skeletal muscle atrophy, Abnormal thora... |
ORPHA:171430 |
| Myopathy, X-Linked, With Excessive Autophagy |
|
Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus... |
OMIM:310440 |
| Multiple Pterygium Syndrome, X-Linked |
|
Thin ribs, Joint dislocation, Amyoplasia, Increased susceptibility to fractures, Abnormal cervica... |
OMIM:312150 |
| Lethal Congenital Contracture Syndrome 5 |
|
Centrally nucleated skeletal muscle fibers, Flexion contracture, Congenital contracture |
OMIM:615368 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Pectus carinatum, Popliteal pterygium, Cervical spinal canal stenosis, Elbow contracture, Elbow f... |
OMIM:178110 |
| Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal pelvic girdle bone morphology, Slender long bone, Abnormal rib morphology |
ORPHA:1506 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoulder girdle muscle ... |
ORPHA:98913 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, Triceps weakness, Foot... |
OMIM:619574 |
| Cerebrofaciothoracic Dysplasia |
|
Rib fusion, Narrow chest, Sprengel anomaly, Bifid ribs |
ORPHA:1394 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Metaphyseal cupping, Pathologic fracture, Micrognathia, Knee flexion contracture, Hip... |
OMIM:156400 |
| Grant Syndrome |
|
Abnormality of the glenoid fossa, Narrow chest, Joint dislocation, Abnormal cortical bone morphol... |
ORPHA:2097 |
| Myasthenic Syndrome, Congenital, 12 |
|
Proximal amyotrophy, Ragged-red muscle fibers, Facial palsy |
OMIM:610542 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Thin ribs, Platyspondyly, Multiple joint dislocation, Knee dislocation, Joint hypermobility, Narr... |
OMIM:618395 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cone-shaped epiphysis, Metaphyseal spurs, Thoracic hypoplasia, Preaxial polydactyly, Acetabular s... |
OMIM:613091 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Narrow chest, Respiratory insufficiency, Irregular epiphyses, Hypoplastic iliac wing, Thoracic dy... |
OMIM:208500 |
| Tarp Syndrome |
|
Clinodactyly, Micrognathia, Neonatal death, Postaxial polydactyly, Short sternum, Cutaneous synda... |
OMIM:311900 |
| Childhood-Onset Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Generalized limb muscle atrophy,... |
ORPHA:171439 |
| Multiminicore Myopathy |
|
Minicore myopathy, Proximal muscle weakness in lower limbs, Muscular dystrophy, Proximal muscle w... |
ORPHA:598 |
| Ellis-Van Creveld Syndrome |
|
Pectus carinatum, Capitate-hamate fusion, Postaxial foot polydactyly, Narrow chest, Hypoplastic i... |
OMIM:225500 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Proximal/middle symphalangism of 5th finger, Fused cervical vertebrae |
OMIM:184460 |
| Creatine Phosphokinase, Elevated Serum |
|
Muscular dystrophy, Inflammatory myopathy, Myopathy, Abnormal muscle fiber morphology, EMG: myopa... |
OMIM:123320 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Widened greater sciatic notch, Horizontal inferior border of sca... |
OMIM:250220 |
| Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle... |
ORPHA:352479 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis |
OMIM:617070 |
| Myopathy, Myofibrillar, 2 |
|
Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower... |
OMIM:608810 |
| Lethal Congenital Contracture Syndrome 1 |
|
Hypoplasia of the musculature, Skeletal muscle atrophy, Abnormal thorax morphology, Neonatal deat... |
OMIM:253310 |
| Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Increased variability in muscle fiber diameter, Pelvic girdle muscle weakness, Calf muscle hypert... |
ORPHA:119 |
| Orofaciodigital Syndrome Type 3 |
|
Postaxial foot polydactyly, Short sternum, Postaxial hand polydactyly, Pectus excavatum, Thoracic... |
ORPHA:2752 |
| Hypersulfaturia |
|
Costochondral pain |
OMIM:620372 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Cervical ribs, Aplasia/Hypoplasia of the patella, Genu varum, Patellar dislocation, Scoliosis, Hi... |
ORPHA:3320 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Congenital contracture, Respiratory failure, Death in infancy |
OMIM:225753 |
| Myotonia With Skeletal Abnormalities And Impaired Intellectual Development |
|
Firm muscles, Pectus carinatum, Vertebral wedging, Bell-shaped thorax, Genu valgum, Kyphoscoliosi... |
OMIM:255710 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Thin ribs, Joint dislocation, Amyoplasia, Increased susceptibility to fractures, Abnormal cervica... |
OMIM:253290 |
| Congenital Myopathy 10B, Mild Variant |
|
Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Increased end... |
OMIM:620249 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Abnormal sternum morphology, Broad ribs, Short ribs, Abnormal rib morphology, Postaxial hand poly... |
ORPHA:2519 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers |
OMIM:300816 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Narrow chest, Rhizomelia, Microretrognathia, Short tibia, Unicoronal synostosis, Preaxial polydac... |
OMIM:616300 |
| Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Shoulder girdle muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotr... |
OMIM:606071 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Vertebral segmentation defect, Short neck, Abnormal rib morphology |
ORPHA:2578 |
| Cleidocranial Dysplasia 1 |
|
Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub... |
OMIM:119600 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Micrognathia, Respiratory failure, Mandibular aplasia, Delayed cranial suture closure |
ORPHA:1832 |
| Myopathy, Myofibrillar, 7 |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle fiber predominance... |
OMIM:617114 |
| Brachydactyly, Type B1 |
|
Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Thoracolumbar ... |
OMIM:113000 |
| Pelvis-Shoulder Dysplasia |
|
Fifth finger distal phalanx clinodactyly, Hydranencephaly, Camptodactyly of finger, Micrognathia,... |
ORPHA:2839 |
| Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Increased variability in muscle fiber diameter |
OMIM:617915 |
| Congenital Pseudoarthrosis Of The Clavicle |
|
Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs |
ORPHA:66630 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Hypoplasia of the odontoid process, Broad long bones, Bell-shaped thorax, Micrognathia, Broad pha... |
OMIM:271665 |
| Donnai-Barrow Syndrome |
|
Short sternum, Umbilical hernia, Congenital diaphragmatic hernia, Diaphragmatic eventration |
OMIM:222448 |
| Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy |
|
Increased variability in muscle fiber diameter, Macroglossia, Skeletal muscle atrophy |
OMIM:151800 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Nemaline bodies, Sternocleido... |
ORPHA:98905 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Increased variability in muscle fiber diameter, Neonatal respiratory distress, Skeletal muscle at... |
OMIM:616867 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Increased muscle lipid content, Ragged-red muscle fibers, Hypertrophied muscle fibers, Macrogloss... |
OMIM:500009 |
| Stuve-Wiedemann Syndrome 2 |
|
Thoracic hypoplasia, Neonatal death, Death in adolescence, Stillbirth, Camptodactyly, Scoliosis |
OMIM:619751 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Rimmed vacuoles, Shoulder girdle muscle atrophy, Pelvic girdle muscle atrophy, Distal amyotrophy,... |
OMIM:167320 |
| Amish Nemaline Myopathy |
|
Shoulder flexion contracture, Type 1 muscle fiber predominance, Hip contracture, Proximal amyotro... |
ORPHA:98902 |
| Van Den Ende-Gupta Syndrome |
|
Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Long metacarpals, Long hallux, Mi... |
OMIM:600920 |
| Congenital Myopathy 22A, Classic |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:620351 |
| Mucolipidosis Iii Alpha/Beta |
|
Shallow acetabular fossae, Limitation of joint mobility, Broad ribs, Irregular carpal bones, Shor... |
OMIM:252600 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Myopathy, Fatty repla... |
ORPHA:397744 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased variability in muscle fiber diameter |
OMIM:613752 |
| Nail-Patella Syndrome |
|
Triceps aplasia, Elongated radius, Patellar hypoplasia, Quadriceps aplasia, Hypoplastic radial he... |
OMIM:161200 |
| Achondroplasia |
|
Rhizomelia, Radial bowing, Flared metaphysis, Thoracic hypoplasia, Femoral bowing, Limited elbow ... |
OMIM:100800 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Pectus carinatum, Hypoplastic sacrum, Lumbar hyperlordosis, Genu valgum, Limited e... |
OMIM:271650 |
| Meier-Gorlin Syndrome 1 |
|
Thin ribs, Joint contracture of the hand, Small hand, Elbow dislocation, Cutaneous finger syndact... |
OMIM:224690 |
| Schneckenbecken Dysplasia |
|
Hypoplastic ilia, Hypoplastic scapulae, Narrow chest, Micromelia, Fibular hypoplasia, Short ribs,... |
ORPHA:3144 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Butterfly vertebrae, Sprengel anomaly, Spina bifida occulta, Pectus excavatum, Fused cervical ver... |
OMIM:619227 |
| Blomstrand Lethal Chondrodysplasia |
|
Synostosis of joints, Aplastic clavicle, Metaphyseal cupping, Broad clavicles, Abnormal epiphysis... |
ORPHA:50945 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Pectus carinatum, Lumbar hyperlordosis, Cervical C2/C3 vertebral fusion, Lumbar scoliosis, Scapul... |
OMIM:617796 |
| Hyperparathyroidism, Transient Neonatal |
|
Thin ribs, Osteopenia, Fractured rib, Narrow chest, Metaphyseal spurs, Femoral bowing, Undulate r... |
OMIM:618188 |
| Braddock Syndrome |
|
Neonatal respiratory distress, Preaxial hand polydactyly, Micrognathia, Congenital muscular torti... |
ORPHA:52047 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Congenital hip dislocation, Hypoplastic scapulae, Finger syndactyly, Stillbirth, Umbilical hernia... |
OMIM:308050 |
| Gorlin Syndrome |
|
Arachnodactyly, Rib fusion, Brachydactyly, Anterior rib cupping, Abnormal rib morphology, Bifid r... |
ORPHA:377 |
| Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Abnormal muscle fiber protein expression |
ORPHA:330054 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure, Weakness of facial musculature |
OMIM:618637 |
| Hereditary Butyrylcholinesterase Deficiency |
|
Respiratory failure, Respiratory failure requiring assisted ventilation |
ORPHA:132 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Skeletal muscle atrophy, Respiratory insufficiency, Myopathy, Weakness of facial musculature, Spi... |
ORPHA:254875 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Left ventricular noncompaction, Increased variability in muscle fiber diameter, Increased intramy... |
OMIM:617228 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormal form of the vertebral bodies, Abnormality of the humeroulnar joint, Short neck, Hemivert... |
ORPHA:2234 |
| Spondylometaphyseal Dysplasia, Axial |
|
Platyspondyly, Narrow chest, Thoracic hypoplasia, Anterior rib cupping, Scoliosis |
OMIM:602271 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure, Ragged-red muscle fibers |
OMIM:616794 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Pectus carinatum, Lumbar hyperlordosis, Butterfly vertebrae, Vertebral fusion, Thoracic kyphoscol... |
ORPHA:313892 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Platyspondyly, Narrow chest, Abnormal clavicle morphology, Decreased skull ossification, Short ne... |
ORPHA:93267 |
| Becker Nevus Syndrome |
|
Pectus carinatum, Shoulder girdle muscle atrophy, Rib fusion, Supernumerary ribs, Spina bifida oc... |
ORPHA:64755 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure, Upper limb muscle weakness, Lower limb muscle weakness, Respiratory failure ... |
ORPHA:90117 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue |
ORPHA:663 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Congenital hip dislocation, Skeletal muscle atrophy, Overlapping fingers, Micrognathia, Multiple ... |
OMIM:618291 |
| Poland Syndrome |
|
Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Congenital diaphragmatic hernia... |
ORPHA:2911 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Cervical C2/C3 vertebral fusion, Camptodactyly, Joint hypermobility |
OMIM:617333 |
| Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Muscular dystrophy, Increased endomysial connective tissue, Flexion contracture |
OMIM:607855 |
| Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Ragged-red muscle fibers |
OMIM:615159 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Narrow chest, Short toe, Short finger, Respiratory insufficiency, Thoracic ... |
OMIM:269860 |
| Nemaline Myopathy 10 |
|
Nemaline bodies, Congenital contracture, Skeletal muscle atrophy, Death in infancy, Neonatal deat... |
OMIM:616165 |
| Kbg Syndrome |
|
Delayed skeletal maturation, Cervical ribs, Persistent open anterior fontanelle, Short neck, Vert... |
ORPHA:2332 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Genu recurvatum, Limitation of joint mobility, Interphalangeal joint contracture of finger, Joint... |
OMIM:151200 |
| Momo Syndrome |
|
Short sternum, Femoral bowing, Abnormal bone ossification, Congenital pseudoarthrosis of the clav... |
ORPHA:2563 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Thin ribs, Block vertebrae, Supernumerary vertebrae, Short ribs, Rib fusion, Missing ribs, Short ... |
OMIM:271520 |
| Vacterl Association With Hydrocephalus |
|
Absent thumb, Respiratory insufficiency, Radial club hand, Stillbirth, Respiratory failure |
OMIM:276950 |
| Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
Neonatal respiratory distress, Congenital contracture, Respiratory insufficiency, Elbow flexion c... |
OMIM:616266 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Centrally nucleated skeletal muscle fibers, Myopathy |
OMIM:300219 |
| Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:618328 |
| Microcephaly, Short Stature, And Limb Abnormalities |
|
Patellar hypoplasia, 11 pairs of ribs, Patellar aplasia, Radioulnar synostosis, Brachydactyly, Hy... |
OMIM:617604 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Narrow chest, Overlapping toe, Micrognathia, Joint hypermobility, Rib fusion, Sprengel anomaly, V... |
OMIM:213980 |
| Lymphangiectasia, Intestinal |
|
Prominent floating ribs, Stillbirth |
OMIM:152800 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Cervical C2/C3 vertebral fusion, Upper limb muscle weakness |
ORPHA:370010 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Platyspondyly, Lumbar hyperlordosis, Distal ulnar epiphyseal stippling, Cupped ribs, Beaking of v... |
OMIM:609616 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Metaphyseal spurs, Posterior rib cupping, Thoracic hypoplasia, Irregular epiphyses, Micromelia, S... |
OMIM:608728 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Respiratory insufficiency, Micrognathia, Facial diplegia, Neonatal death, 2-3 toe syndactyly, Hyp... |
OMIM:618186 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Short distal phalanx of finger, Increased density of long bones, Short 1st metacarpal, Wide dista... |
OMIM:269150 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Muscular dystrophy, Shoulder girdle muscle weakness, Calf muscle hypertrophy, Thigh hypertrophy, ... |
OMIM:607155 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter |
OMIM:614096 |
| Mosaic Trisomy 14 |
|
Short neck, Narrow chest, Camptodactyly of finger, Abnormal rib morphology |
ORPHA:1703 |
| Frontometaphyseal Dysplasia |
|
Hypoplasia of the musculature, Joint contracture of the hand, Interphalangeal joint contracture o... |
ORPHA:1826 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Joint hypermobility, Arachnodactyly, Missing ribs, Abnormal rib morphology, Clinodactyly of the 5... |
ORPHA:2759 |
| Osteogenesis Imperfecta, Type Xviii |
|
Thin ribs, Biconcave vertebral bodies, Joint hypermobility, Wormian bones, Thin bony cortex, Gene... |
OMIM:617952 |
| Mosaic Trisomy 20 |
|
Narrow chest, Spinal canal stenosis, Down-sloping shoulders, Vertebral segmentation defect, Limit... |
ORPHA:1724 |
| Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Ragged-red muscle fibers, Myopathy |
OMIM:618242 |
| Central Core Disease |
|
Nemaline bodies, Type 1 muscle fiber predominance, Multiple joint contractures, Myopathy, Central... |
ORPHA:597 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Clinodactyly of the 5th toe, Short sternum, Clinodactyly of the 5th finger, Proximal placement of... |
OMIM:620113 |
| White Forelock With Malformations |
|
Delayed skeletal maturation, Joint hypermobility, Sprengel anomaly, Abnormal rib morphology, Spin... |
ORPHA:2475 |
| Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Hypoplastic cervical vertebrae, Elbow dislocation, Camptodactyly of... |
ORPHA:628 |
| Marshall-Smith Syndrome |
|
Hypoplasia of the odontoid process, Death in childhood, Bullet-shaped middle phalanges of the han... |
OMIM:602535 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neonatal death, Respiratory failure, Split hand, Respiratory insufficiency |
OMIM:610127 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Cone-shaped epiphysis, Occipital encephalocele, Thoracic hypoplasia, Small cervical vertebral bod... |
ORPHA:397715 |
| Aicardi Syndrome |
|
Small hand, Block vertebrae, Missing ribs, Supernumerary ribs, Rib fusion, Bifid ribs, Hip dysplasia |
ORPHA:50 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Increased variability in muscle fiber diameter, Myopathy |
OMIM:125250 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Radial metaphyseal irregularity, Anterior rib cupping, Genu varum, Femoral bowing, Short long bon... |
ORPHA:174 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Nemaline bodies, Joint contracture of the hand, Increased endomysial connective tissue, Skeletal ... |
OMIM:620278 |
| Keratoconus Posticus Circumscriptus |
|
Short neck, Limited elbow extension and supination, Abnormal vertebral segmentation and fusion |
OMIM:244600 |
| Momo Syndrome |
|
Short sternum |
OMIM:157980 |
| Kearns-Sayre Syndrome |
|
Skeletal muscle atrophy, Ragged-red muscle fibers |
ORPHA:480 |
| Osteogenesis Imperfecta, Type Iii |
|
Thin ribs, Kyphosis, Protrusio acetabuli, Bowing of limbs due to multiple fractures, Biconcave ve... |
OMIM:259420 |
| Achondrogenesis Type 1B |
|
Narrow chest, Abnormal enchondral ossification, Short thorax, Short neck, Abnormal rib morphology |
ORPHA:93298 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Thoracic hypoplasia, Umbilical hernia, Overlapping toe, Large placenta, Diastasis recti, Joint hy... |
ORPHA:254528 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Short thorax, Abnormal form of the vertebral bodies, Camptodactyly of finger, Congenital diaphrag... |
ORPHA:2311 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
| Otopalatodigital Syndrome, Type Ii |
|
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia... |
OMIM:304120 |
| Weaver Syndrome |
|
Joint contracture of the hand, Broad thumb, Clinodactyly, Hypoplastic iliac wing, Overlapping toe... |
OMIM:277590 |
| Combined Oxidative Phosphorylation Deficiency 49 |
|
Ragged-red muscle fibers |
OMIM:619024 |
| Mucopolysaccharidosis Type 4 |
|
Platyspondyly, Pectus carinatum, Joint dislocation, Short thorax, Delayed skeletal maturation, Sp... |
ORPHA:582 |
| Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
| Cdags Syndrome |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Delayed cranial suture closure, Short ribs... |
OMIM:603116 |
| Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure |
OMIM:619887 |
| Laing Early-Onset Distal Myopathy |
|
Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Weakness of ... |
ORPHA:59135 |
| Lethal Congenital Contracture Syndrome 9 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Joint... |
OMIM:616503 |
| Shashi-Pena Syndrome |
|
Cervical C2/C3 vertebral fusion, Limb hypertonia, Accelerated skeletal maturation, Osteoporosis, ... |
OMIM:617190 |
| Noonan Syndrome 12 |
|
Pectus excavatum, 11 pairs of ribs, Proximal placement of thumb |
OMIM:618624 |
| Diaphragmatic Hernia 5, X-Linked |
|
Neonatal death |
OMIM:306950 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... |
ORPHA:96334 |
| Myoclonus, Intractable, Neonatal |
|
Increased variability in muscle fiber diameter |
OMIM:617235 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Increased muscle lipid content, Ragged-red muscle fibers, Myopathy, Macroglossia, Increased muscl... |
ORPHA:254864 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Polysyndactyly of hallux, Pectus carinatum, Narrow chest, Postaxial polysyndactyly of foot, Preax... |
OMIM:263520 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
| Myopathic Ehlers-Danlos Syndrome |
|
Increased variability in muscle fiber diameter, Joint contracture of the hand, Ankle flexion cont... |
ORPHA:536516 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Narrow chest, Limb undergrowth, Abnormal metaphysis morphology, Respiratory failure |
ORPHA:1861 |
| Cornelia De Lange Syndrome 1 |
|
Finger aplasia, Micromelia, Elbow flexion contracture, Hypoplastic radial head, Micrognathia, Lim... |
OMIM:122470 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Neonatal respiratory distress, Respiratory insufficiency, 11 pairs of ribs, Micrognathia, Hyperex... |
OMIM:618356 |
| Cap Myopathy |
|
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Abnormal muscle fiber... |
ORPHA:171881 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Neonatal respiratory distress, Skeletal muscle atrophy, Respiratory insufficiency, Death in child... |
OMIM:245400 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Narrow chest, 11 pairs of ribs, Rhizomelia |
OMIM:617661 |
| Ullrich Congenital Muscular Dystrophy 1A |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Type 1 muscle fiber predomina... |
OMIM:254090 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory failure, Lower limb muscle weakness, Respiratory insufficiency due to muscle weakness |
ORPHA:2590 |
| Ring Chromosome 21 Syndrome |
|
Thoracic hemivertebrae, Abnormal thorax morphology, Scoliosis, Fused thoracic vertebrae |
ORPHA:1445 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
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Generalized weakness of limb muscles, Type 1 muscle fiber predominance, Ragged-red muscle fibers,... |
ORPHA:353327 |
| Osteogenesis Imperfecta, Type Ii |
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Thin ribs, Platyspondyly, Thoracic hypoplasia, Bell-shaped thorax, Multiple rib fractures, Wormia... |
OMIM:166210 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
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Abnormal vertebral morphology, Limitation of joint mobility, Genu valgum, Intervertebral space na... |
ORPHA:93315 |
| Mucopolysaccharidosis, Type Iva |
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Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Ulnar deviation of the wrist... |
OMIM:253000 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
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Distal amyotrophy, Denervation of the diaphragm, Camptodactyly of finger, Limb muscle weakness, S... |
OMIM:604320 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
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Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Genu valgum, Delayed pubic b... |
OMIM:184250 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
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Narrow chest, Short tibia, Preaxial polydactyly, Micrognathia, Horizontal ribs, Long thorax, Fibu... |
OMIM:617925 |
| Ulbright-Hodes Syndrome |
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Thin ribs, Abnormal forearm bone morphology, Fibular aplasia, Micrognathia, Humeroradial synostos... |
ORPHA:3404 |
| Sifrim-Hitz-Weiss Syndrome |
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Short clavicles, Wormian bones, Flat acetabular roof, Fused cervical vertebrae |
OMIM:617159 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
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Pectus carinatum, Craniofacial hyperostosis, Skeletal muscle atrophy, Limitation of joint mobilit... |
ORPHA:3068 |
| Meier-Gorlin Syndrome 3 |
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Narrow chest, Microretrognathia, Tracheomalacia, Slender long bone, Patellar hypoplasia, Short th... |
OMIM:613803 |
| Aicardi Syndrome |
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Block vertebrae, Missing ribs, Supernumerary ribs, Rib fusion, Bifid ribs, Proximal placement of ... |
OMIM:304050 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
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Joint hypermobility, Decreased calvarial ossification, Recurrent fractures, Abnormal rib morphology |
ORPHA:2772 |
| Cree Impaired Intellectual Development Syndrome |
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Cutaneous finger syndactyly, Micrognathia, Aplasia/Hypoplasia of the ribs, Pectus excavatum, Rock... |
OMIM:606851 |
| Tarp Syndrome |
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Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Micrognathia, Postaxial polydacty... |
ORPHA:2886 |
| Proximal Spinal Muscular Atrophy |
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Neonatal respiratory distress, Skeletal muscle atrophy, Quadriceps muscle weakness, Elbow flexion... |
ORPHA:70 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
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Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Skele... |
OMIM:607459 |
| Achondrogenesis Type 1A |
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Narrow chest, Abnormal enchondral ossification, Multiple rib fractures, Short neck, Short thorax,... |
ORPHA:93299 |
| Immunodeficiency 95 |
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Respiratory failure |
OMIM:619773 |
| Holt-Oram Syndrome |
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Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Abnormal clavicle... |
ORPHA:392 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
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Aplastic clavicle, Narrow chest, Micromelia, Preaxial polydactyly, Occipital meningocele, Congeni... |
OMIM:616546 |
| 10Q22.3Q23.3 Microduplication Syndrome |
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Microretrognathia, Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
| Lethal Congenital Contracture Syndrome 2 |
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Micrognathia, Arthrogryposis multiplex congenita, Respiratory failure, Skeletal muscle atrophy |
OMIM:607598 |
| Juberg-Hayward Syndrome |
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Abnormal vertebral morphology, Abnormality of the wrist, Radioulnar synostosis, Abnormal rib morp... |
ORPHA:2319 |
| Caudal Regression Syndrome |
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Aplasia/Hypoplasia of the sacrum, Decreased muscle mass, Joint stiffness, Missing ribs, Hypoplast... |
ORPHA:3027 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
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Abnormal rib cage morphology, Pectus carinatum, Platyspondyly, Hypoplasia of the odontoid process... |
OMIM:184252 |
| Osteogenesis Imperfecta, Type Xvi |
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Platyspondyly, Osteopenia, Narrow chest, Decreased calvarial ossification, Multiple rib fractures... |
OMIM:616229 |
| Turnpenny-Fry Syndrome |
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Pectus carinatum, Small hand, Narrow chest, Clinodactyly, Overlapping toe, Long thorax, Joint hyp... |
OMIM:618371 |
| Osteogenesis Imperfecta, Type Viii |
|
Thin ribs, Osteopenia, Platyspondyly, Kyphosis, Barrel-shaped chest, Decreased skull ossification... |
OMIM:610915 |
| Ulnar Hemimelia |
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Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... |
ORPHA:93320 |
| Melnick-Needles Syndrome |
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Craniofacial hyperostosis, Narrow chest, Anisospondyly, Short thorax, Delayed cranial suture clos... |
ORPHA:2484 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
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Lower limb muscle weakness, Angulated muscle fibers, Quadriceps muscle atrophy, Intrinsic hand mu... |
OMIM:620285 |
| Mucopolysaccharidosis, Type X |
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Platyspondyly, Broad clavicles, Irregular acetabular roof, Broad ribs, Genu valgum, Spatulate rib... |
OMIM:619698 |
| Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
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Ragged-red muscle fibers, Rhabdomyolysis, Weakness of facial musculature |
OMIM:618416 |
| Lipodystrophy, Congenital Generalized, Type 4 |
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Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:613327 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
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Short sternum, Embryonal rhabdomyosarcoma, Micrognathia |
OMIM:257300 |
| Dyggve-Melchior-Clausen Disease |
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Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Hypoplastic acetabulae, Abno... |
ORPHA:239 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
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Rimmed vacuoles, Necrotizing myopathy, Facial diplegia, Foot dorsiflexor weakness, Intrinsic hand... |
ORPHA:329478 |
| Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
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Limb muscle weakness, Ragged-red muscle fibers, Facial diplegia, EMG: myopathic abnormalities, Ge... |
OMIM:609560 |
| Diaphanospondylodysostosis |
|
Tracheomalacia, Thoracic hypoplasia, Respiratory insufficiency, Micrognathia, Bell-shaped thorax,... |
OMIM:608022 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Hypermobility of interphalangeal joints, Thoracic hemivertebrae, Thoracic scoliosis, Generalized ... |
ORPHA:508498 |
| Osteogenesis Imperfecta, Type X |
|
Thin ribs, Osteopenia, Narrow chest, Platyspondyly, Thoracic hypoplasia, Broad ribs, Genu valgum,... |
OMIM:613848 |
| Microcephaly-Micromelia Syndrome |
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Narrow chest, Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial syn... |
OMIM:251230 |
| Septopreoptic Holoprosencephaly |
|
Abnormal vertebral morphology, Abnormal rib morphology |
ORPHA:280195 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
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Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, 11 pairs of ribs, Micrognathia, Fibular... |
OMIM:201170 |
| Laryngotracheoesophageal Cleft Type 4 |
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Abnormal form of the vertebral bodies, Abnormal rib morphology |
ORPHA:93941 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
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Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Bulging of the costochondral junctio... |
OMIM:600081 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
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