اسکلتی/ عضلانی

Abnormal Mineralization
Arthrogryposis
Ataxia
Cockayne Syndrome
Congenital Fiber Type Disproportion
Congenital Generalized Lipodystrophy Type 1 / 2
Congenital Myasthenic Syndrome
Cornelia De Lange Syndrome
Craniosynostosis
Distal Arthrogryposis Syndromes
Distal Hereditary Myopathy
Dystroglycan-Related Congenital Muscular Dystrophy
Early-Onset Ataxia
Ehlers-Danlos Syndrome
Ellis-Van Creveld Syndrome
FGFR-Related Craniosynostosis
Hereditary Multiple Osteochondromas (HM Exostoses)
Late-Onset Ataxia
Limb-Girdle Muscular Dystrophy
Loeys-Dietz Syndrome
Marfan Syndrome and Thoracic Aortic Aneurysm and Dissection
Meier-Gorlin Syndrome
mtDNA Depletion Syndrome
Mucopolysaccharidosis
Multiple Epiphyseal Dysplasia
Muscular Dystrophies
Myofibrillar Myopathy
Myopathy-Rhabdomyolysis
Nemaline Myopathy
Neuromuscular
Noonan and RASopathies
Osteogenesis Imperfecta and Decreased Bone Density
Osteogenesis Imperfecta
Paget Disease of Bone
Primordial Dwarfism
Robinow Syndrome
Rubinstein-Taybi Syndrome
Short Stature
Skeletal Dysplasias
Spastic Paraplegia
Spinal Muscular Atrophy
Spinocerebellar Ataxia Type 6 (CACNA1A) Repeat Expansion
Spondylocostal Dysostosis
Stickler Syndrome
Syndromic Congenital Muscular Dystrophy
Type VI Collagenopathy
Walker Warburg Syndrome
X-Inactivation Analysis
Zellweger Syndrome