Abnormal Mineralization
Cockayne Syndrome
Congenital Fiber Type Disproportion
Congenital Generalized Lipodystrophy Type 1 / 2
Congenital Myasthenic Syndrome
Cornelia De Lange Syndrome
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
Multiple Epiphyseal Dysplasia
Muscular Dystrophies
Myofibrillar Myopathy
Nemaline Myopathy
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