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 |
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Shoulder girdle muscle weakness, Muscle fiber splitting, Myofibrillar myopathy, Scapular winging,... |
OMIM:603689 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
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Lower limb amyotrophy, Upper limb amyotrophy, Muscle fiber splitting, Myopathy, Lower limb muscle... |
OMIM:616924 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
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Thoracic hypoplasia, Horizontal ribs, Hypoplastic ilia, Lateral clavicle hook, Postaxial polydact... |
OMIM:617895 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
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Ankle clonus, Joint laxity, Hypoplasia of the capital femoral epiphysis, Respiratory failure, Han... |
OMIM:600561 |
Schneckenbecken Dysplasia |
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Thoracic hypoplasia, Lateral clavicle hook, Limb undergrowth, Short ribs, Umbilical hernia, Anter... |
OMIM:269250 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
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Facial palsy, EMG: myopathic abnormalities, Ragged-red muscle fibers |
OMIM:609283 |
Bone Dysplasia, Lethal Holmgren Type |
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Abnormal diaphysis morphology, Respiratory insufficiency, Short ribs, Rhizomelia, Abnormality of ... |
ORPHA:1842 |
Osteogenesis Imperfecta, Type Ix |
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Beaded ribs, Scoliosis, Pectus excavatum, Kyphosis, Wormian bones, Multiple prenatal fractures, P... |
OMIM:259440 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
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Distal lower limb amyotrophy, Proximal amyotrophy, Intrinsic hand muscle atrophy, Distal lower li... |
OMIM:620068 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
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Metaphyseal cupping, Rhizomelia, Thin ribs, Micromelia, Metaphyseal irregularity, Radial bowing, ... |
OMIM:151210 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
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Minicore myopathy, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Incr... |
ORPHA:486815 |
Second Metatarsal-Metacarpal Syndrome |
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Platyspondyly, Synostosis of carpals/tarsals |
OMIM:269630 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
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Death in childhood, Pulmonary arterial hypertension, Metaphyseal cupping, Short ribs, Flat acetab... |
OMIM:613320 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
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Osteolysis, Joint swelling, Broad ribs, Osteopenia, Periostitis, Osteomyelitis, Fused cervical ve... |
OMIM:612852 |
Thanatophoric Dysplasia, Type I |
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Thoracic hypoplasia, Neonatal respiratory distress, Hypoplastic ilia, Short greater sciatic notch... |
OMIM:187600 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
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Muscular dystrophy, Skeletal muscle atrophy, Proximal amyotrophy, Increased variability in muscle... |
OMIM:614302 |
Congenital Muscular Dystrophy, Ullrich Type |
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Torticollis, Hip dislocation, Increased laxity of fingers, Hyperextensibility at wrists, Knee fle... |
ORPHA:75840 |
Congenital Myopathy 6 With Ophthalmoplegia |
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Myopathy, Type 1 muscle fiber predominance, Scapular winging, Muscle fiber inclusion bodies, Cong... |
OMIM:605637 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
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Muscle fiber hyaline bodies, Proximal amyotrophy, Type 1 muscle fiber predominance, EMG: myopathi... |
OMIM:255160 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
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Muscle fiber splitting, Type 1 muscle fiber predominance, Muscular dystrophy, Skeletal muscle atr... |
OMIM:253700 |
Proximal Myopathy With Extrapyramidal Signs |
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Central core regions in muscle fibers, Centrally nucleated skeletal muscle fibers, Increased vari... |
ORPHA:401768 |
Achondrogenesis, Type Ia |
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Micromelia, Decreased skull ossification, Hypoplasia of the radius, Bowing of the legs, Abnormal ... |
OMIM:200600 |
Heyn-Sproul-Jackson Syndrome |
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11 pairs of ribs, Broad metacarpals, Short metacarpal, Broad phalanx, Short phalanx of finger |
OMIM:618724 |
Spondylometaphyseal Dysplasia, A4 Type |
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Platyspondyly, Flared, irregular rib ends, Limitation of joint mobility |
ORPHA:168555 |
Oculopharyngodistal Myopathy 3 |
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Distal amyotrophy, Weakness of facial musculature, Increased endomysial connective tissue, Rimmed... |
OMIM:619473 |
Kniest Dysplasia |
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Abnormal joint morphology, Anterior vertebral fusion, Joint stiffness, Short neck, Laryngotracheo... |
ORPHA:485 |
Spondylometaphyseal Dysplasia, Type A4 |
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Enlargement of the costochondral junction, Narrow greater sciatic notch, Metaphyseal sclerosis, M... |
OMIM:609052 |
Congenital Myopathy 4A, Autosomal Dominant |
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Facial palsy, Centrally nucleated skeletal muscle fibers, Limb joint contracture, Type 1 fibers r... |
OMIM:255310 |
Fibrochondrogenesis 1 |
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Long clavicles, Posterior vertebral hypoplasia, Thin ribs, Rhizomelia, Broad long bones, Posterio... |
OMIM:228520 |
Arthrogryposis Multiplex Congenita 6 |
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Death in childhood, Death in infancy, Nemaline bodies, Neonatal death, Adducted thumb, Respirator... |
OMIM:619334 |
Multiple Synostoses Syndrome 1 |
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Lower limb undergrowth, Absent distal phalanges, Carpal synostosis, Short hallux, Cutaneous finge... |
OMIM:186500 |
Wildervanck Syndrome |
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Fused cervical vertebrae, Short neck |
ORPHA:3456 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
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Irregular chondrocostal junctions, Genu varum, Metaphyseal cupping, Short ribs, Metaphyseal widen... |
OMIM:250420 |
Frontometaphyseal Dysplasia 1 |
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Cervical C2/C3 vertebral fusion, Camptodactyly of finger, Scoliosis, Carpal synostosis, Interphal... |
OMIM:305620 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
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Muscular dystrophy, Skeletal muscle hypertrophy, Increased endomysial connective tissue, Increase... |
OMIM:613157 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
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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 |
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Weakness of facial musculature, Skeletal muscle atrophy, Ragged-red muscle fibers, Scapular winging |
OMIM:617069 |
Three M Syndrome 1 |
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Neonatal respiratory distress, Pectus excavatum, Hip dislocation, Hypoplastic pelvis, Short ribs,... |
OMIM:273750 |
Oculopharyngodistal Myopathy 4 |
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Autophagic vacuoles, Weakness of facial musculature, EMG: myopathic abnormalities, Fatty replacem... |
OMIM:619790 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
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Facial palsy, Frontalis muscle weakness, Type 1 fibers relatively smaller than type 2 fibers, Myo... |
OMIM:300580 |
Myopathy, Centronuclear, 2 |
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EMG: myopathic abnormalities, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle... |
OMIM:255200 |
Adult-Onset Nemaline Myopathy |
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Myopathy, Lower limb muscle weakness, Type 1 muscle fiber predominance, EMG: myopathic abnormalit... |
ORPHA:171442 |
Merrf |
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Ragged-red muscle fibers, Myopathy |
ORPHA:551 |
Amyotrophic Lateral Sclerosis 20 |
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Muscular dystrophy, Rimmed vacuoles, Muscle fiber inclusion bodies |
OMIM:615426 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
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Vertebral fusion, Death in infancy, Sacral dimple, Short thorax, Vertebral segmentation defect |
OMIM:618845 |
Myopathy, Centronuclear, 5 |
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Weakness of facial musculature, Centrally nucleated skeletal muscle fibers, Hip contracture |
OMIM:615959 |
Acrocapitofemoral Dysplasia |
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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 |
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Thoracic dysplasia, Thoracic hypoplasia, Lateral clavicle hook, Short ribs, Bell-shaped thorax, S... |
OMIM:615630 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
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Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Internally nucl... |
OMIM:618138 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
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Central vertebral hypoplasia, Limb undergrowth, Genu varum, Short ribs, Micromelia, Bell-shaped t... |
OMIM:602557 |
Nemaline Myopathy 2 |
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Arthrogryposis multiplex congenita, Sternocleidomastoid amyotrophy, Muscle fiber splitting, Type ... |
OMIM:256030 |
Pyknoachondrogenesis |
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Abnormal iliac wing morphology, Horizontal ribs, Craniofacial hyperostosis, Enlarged thorax, Shor... |
ORPHA:3003 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
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Encephalocele, Miscarriage, Hypoplastic ilia, Limb undergrowth, Respiratory insufficiency, Short ... |
ORPHA:1865 |
Severe X-Linked Mitochondrial Encephalomyopathy |
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Skeletal muscle atrophy, Increased variability in muscle fiber diameter |
ORPHA:238329 |
Postsynaptic Congenital Myasthenic Syndromes |
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Shoulder girdle muscle weakness, Restrictive ventilatory defect, Type 1 muscle fiber predominance... |
ORPHA:98913 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
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Abnormality of the cervical spine, Superior rib anomalies |
OMIM:307500 |
Pallister-Hall-Like Syndrome |
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Postaxial foot polydactyly, Hip dislocation, Short ribs, Occipital encephalocele, Death in infanc... |
OMIM:241800 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
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Hip dysplasia, Facial diplegia, Respiratory insufficiency due to muscle weakness, Skeletal muscle... |
OMIM:611890 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
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Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle autophagosome accumu... |
OMIM:619518 |
Ullrich Congenital Muscular Dystrophy 2 |
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Flexion contracture, Facial palsy, Congenital muscular dystrophy, Increased variability in muscle... |
OMIM:616470 |
Amyotrophic Lateral Sclerosis 21 |
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Shoulder girdle muscle weakness, Distal lower limb muscle weakness, Hand muscle weakness, Central... |
OMIM:606070 |
Achondrogenesis, Type Ii |
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Horizontal ribs, Short ribs, Absent vertebral body mineralization, Broad long bones, Stillbirth, ... |
OMIM:200610 |
Intermediate Nemaline Myopathy |
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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 |
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Short neck, Thoracolumbar scoliosis, Myopathy, Nemaline bodies, Acetabular dysplasia, Cervical C2... |
OMIM:616549 |
Zebra Body Myopathy |
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Torticollis, Autophagic vacuoles, Muscle fiber splitting, Myofibrillar myopathy, Nemaline bodies,... |
ORPHA:97240 |
Autosomal Dominant Spondylocostal Dysostosis |
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Abnormal sacrum morphology, Scoliosis, Short neck, Missing ribs, Abnormal rib morphology, Posteri... |
ORPHA:1797 |
Thoraco-Abdominal Enteric Duplication |
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Meningocele, Missing ribs, Camptodactyly of finger, Respiratory insufficiency |
ORPHA:1759 |
Hypophosphatasia, Infantile |
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Rachitic rosary, Craniosynostosis, Short lower limbs, Metaphyseal cupping, Short ribs, Death in i... |
OMIM:241500 |
Myopathy, Myofibrillar, 8 |
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Joint contracture of the 5th finger, Central core regions in muscle fibers, Nemaline bodies, Scap... |
OMIM:617258 |
Sandhoff Disease, Adult Form |
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Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Muscle fiber atrophy |
ORPHA:309169 |
Fibrochondrogenesis |
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Camptodactyly of finger, Abnormal metaphysis morphology, Abnormal diaphysis morphology, Respirato... |
ORPHA:2021 |
Prieto Syndrome |
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11 pairs of ribs, Osteoporosis, Coxa valga, Patellar subluxation, Patellar dislocation, Radial de... |
OMIM:309610 |
Mesomelic Dysplasia, Kantaputra Type |
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Camptodactyly of finger, Synostosis of carpal bones, Abnormal rib morphology, Cubitus valgus, Ver... |
ORPHA:1836 |
Bent Bone Dysplasia Syndrome 2 |
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Short 1st metacarpal, Short lower limbs, Short ribs, Short tibia, Thin ribs, Hypoplastic acetabul... |
OMIM:620076 |
Myopathy, Distal, 3 |
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Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Joint contr... |
OMIM:610099 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
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Thoracic dysplasia, Lateral clavicle hook, Preaxial polydactyly, Postaxial polydactyly, Short rib... |
OMIM:615503 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
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Camptodactyly, Metaphyseal widening, Short ribs, Advanced ossification of carpal bones, Broad lon... |
OMIM:224400 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
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Thoracic hypoplasia, Beaded ribs, Fractured radius, Decreased fibular diameter, Limb undergrowth,... |
OMIM:616897 |
Greenberg Dysplasia |
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Absent or minimally ossified vertebral bodies, Long clavicles, Metaphyseal cupping, Rhizomelia, M... |
OMIM:215140 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
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Respiratory insufficiency, Central apnea, Death in infancy, Respiratory failure |
OMIM:611722 |
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
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Proximal amyotrophy, Myopathy, Respiratory insufficiency, Type 1 muscle fiber predominance, Nemal... |
OMIM:605355 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
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Thoracic hypoplasia, Preaxial polydactyly, Radial bowing, Short ribs, Missing ribs, Postaxial pol... |
OMIM:617866 |
Autosomal Recessive Centronuclear Myopathy |
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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 |
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Camptodactyly, Distal arthrogryposis, Umbilical hernia, Adducted thumb, Respiratory failure, Flex... |
OMIM:618011 |
Myopathy, Distal, 1 |
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Tibialis anterior muscle atrophy, Distal lower limb muscle weakness, Type 1 muscle fiber predomin... |
OMIM:160500 |
Finnish Upper Limb-Onset Distal Myopathy |
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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 |
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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-Küster-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 |
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Thoracic hypoplasia, Beaded ribs, Thin ribs, Multiple prenatal fractures, Wormian bones, Absent o... |
OMIM:166210 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
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Fiber type grouping, Myopathy, Weakness of facial musculature, Skeletal muscle atrophy, Scapular ... |
OMIM:607459 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
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Scoliosis, Anterior rib cupping, Platyspondyly, Pectus carinatum, Genu valgum, Delayed pubic bone... |
OMIM:184250 |
Sifrim-Hitz-Weiss Syndrome |
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Fused cervical vertebrae, Flat acetabular roof, Wormian bones, Short clavicles |
OMIM:617159 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
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Horizontal ribs, Narrow greater sciatic notch, Lateral clavicle hook, Long thorax, Preaxial polyd... |
OMIM:617925 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
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Craniofacial hyperostosis, Skeletal muscle atrophy, Abnormal rib morphology, Facial palsy, Pectus... |
ORPHA:3068 |
Congenital Disorder Of Glycosylation, Type Ig |
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Short humerus, Short ribs, Rhizomelia, Short tibia, Short femur, Respiratory distress, Recurrent ... |
OMIM:607143 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
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Abnormal rib morphology, Decreased calvarial ossification, Joint hyperflexibility, Recurrent frac... |
ORPHA:2772 |
Aicardi Syndrome |
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Proximal placement of thumb, Missing ribs, Supernumerary ribs, Rib fusion, Bifid ribs, Block vert... |
OMIM:304050 |
Achondrogenesis Type 1A |
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Short thorax, Short neck, Abnormal enchondral ossification, Narrow chest, Recurrent fractures, Mu... |
ORPHA:93299 |
Turnpenny-Fry Syndrome |
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Pectus excavatum, Torticollis, Long thorax, Overlapping toe, Thoracic kyphoscoliosis, Tapered fin... |
OMIM:618371 |
Diaphanospondylodysostosis |
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Thoracic hypoplasia, Tracheomalacia, Respiratory insufficiency, Absent in utero rib ossification,... |
OMIM:608022 |
Scapuloperoneal Spinal Muscular Atrophy |
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Clinodactyly, Torticollis, Peroneal muscle atrophy, Muscle fiber splitting, Hip dysplasia, Respir... |
OMIM:181405 |
10Q22.3Q23.3 Microduplication Syndrome |
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Abnormal rib morphology, Microretrognathia, Abnormal clavicle morphology |
ORPHA:276422 |
Lethal Congenital Contracture Syndrome 2 |
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Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Respiratory failure, Micrognathia |
OMIM:607598 |
Ulnar Hemimelia |
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Abnormal calcification of the carpal bones, Aplasia of metacarpal bones, Abnormality of the humer... |
ORPHA:93320 |
Juberg-Hayward Syndrome |
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Scoliosis, Abnormality of the elbow, Abnormality of the wrist, Abnormal rib morphology, Radioulna... |
ORPHA:2319 |
Holt-Oram Syndrome |
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Down-sloping shoulders, Pectus excavatum, Abnormality of the humerus, Joint stiffness, Phocomelia... |
ORPHA:392 |
Combined Oxidative Phosphorylation Deficiency 51 |
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Neonatal respiratory distress, Aspiration pneumonia, Respiratory failure |
OMIM:619057 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
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Facial diplegia, EMG: myopathic abnormalities, Generalized amyotrophy, Ragged-red muscle fibers, ... |
OMIM:609560 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
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Preaxial polydactyly, Postaxial polydactyly, Short ribs, Anencephaly, Occipital meningocele, Apla... |
OMIM:616546 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
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Rhabdomyolysis, Weakness of facial musculature, Ragged-red muscle fibers |
OMIM:618416 |
Radio-Renal Syndrome |
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Dyspnea, Pleural effusion, Abnormality of the elbow, Micromelia, Abnormal rib morphology, Respira... |
ORPHA:3015 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
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Scoliosis, Short neck, Flat acetabular roof, Delayed ossification of carpal bones, Abnormal rib c... |
OMIM:184252 |
Congenital Neuronal Ceroid Lipofuscinosis |
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Neonatal respiratory distress, Central sleep apnea, Apnea, Respiratory failure, Split hand |
ORPHA:168486 |
Mucopolysaccharidosis, Type Iva |
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Ulnar deviation of the wrist, Scoliosis, Large elbow, Short neck, Ovoid vertebral bodies, Cervica... |
OMIM:253000 |
Osteogenesis Imperfecta, Type Viii |
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Scoliosis, Wide anterior fontanel, Thin ribs, Multiple prenatal fractures, Osteopenia, Wormian bo... |
OMIM:610915 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
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Death in infancy, Respiratory failure, Apnea |
OMIM:616277 |
Melnick-Needles Syndrome |
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Craniofacial hyperostosis, Scoliosis, Hip dislocation, Abnormal cortical bone morphology, Anisosp... |
ORPHA:2484 |
Mucopolysaccharidosis, Type X |
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Scoliosis, Spatulate ribs, Left ventricular hypertrophy, Broad ribs, Broad clavicles, Platyspondy... |
OMIM:619698 |
Caudal Regression Syndrome |
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Abnormal iliac wing morphology, Joint stiffness, Decreased muscle mass, Missing ribs, Hypoplastic... |
ORPHA:3027 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
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Neonatal respiratory distress, Dyspnea, Clubbing, Cough, Paraseptal emphysema, Hypoxemia, Death i... |
OMIM:610921 |
Lipodystrophy, Congenital Generalized, Type 4 |
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Muscular dystrophy, Skeletal muscle hypertrophy, Centrally nucleated skeletal muscle fibers, Incr... |
OMIM:613327 |
Cree Mental Retardation Syndrome |
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Aplasia/Hypoplasia of the ribs, Pectus excavatum, Rocker bottom foot, Micrognathia, Cutaneous fin... |
OMIM:606851 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
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Dyspnea, Myopathy, Weakness of facial musculature, Respiratory insufficiency due to muscle weakne... |
ORPHA:352447 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
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Scoliosis, Hemivertebrae, Abnormal rib morphology, Sprengel anomaly, Abnormal form of the vertebr... |
ORPHA:2180 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Aplasia/Hypoplasia of the ribs, Pectus excavatum, Thoracic hemivertebrae, Hip dislocation, Genera... |
ORPHA:508498 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
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Rickets, Enlargement of the costochondral junction, Thin bony cortex, Deformed rib cage, Bulging ... |
OMIM:600081 |
Laryngotracheoesophageal Cleft Type 4 |
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Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:93941 |
Joubert Syndrome 21 |
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Encephalocele, Chronic sinusitis, Dyspnea, Short ribs, Occipital encephalocele, Apnea, Bell-shape... |
OMIM:615636 |
Mosaic Variegated Aneuploidy Syndrome 1 |
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Short sternum, Embryonal rhabdomyosarcoma, Micrognathia |
OMIM:257300 |
Septopreoptic Holoprosencephaly |
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Abnormal rib morphology, Abnormal vertebral morphology |
ORPHA:280195 |
Atelosteogenesis, Type Ii |
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Thoracic hypoplasia, Dumbbell-shaped femur, Short greater sciatic notch, Limb undergrowth, Respir... |
OMIM:256050 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
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Oligodactyly, 11 pairs of ribs, Overlapping toe, Short tibia, Micrognathia, Clinodactyly, Fibular... |
OMIM:201170 |
Duane-Radial Ray Syndrome |
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Scoliosis, Small thenar eminence, Upper limb muscle hypoplasia, Shoulder dislocation, Pectoralis ... |
OMIM:607323 |
Microcephaly-Micromelia Syndrome |
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Craniosynostosis, Forearm undergrowth, Oligodactyly, Absent radius, Missing ribs, Short tibia, Ne... |
OMIM:251230 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
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