Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria

Medicine & Life Sciences

• Perisylvian syndrome 100%
• Mutation 30%
• Hereditary Spastic Paraplegia 20%
• Congenital Hip Dislocation 19%
• Micrognathism 19%
• Parturition 18%
• Language Development Disorders 18%
• Fetal Movement 17%
• Spinal Muscular Atrophy 17%
• Fracture Dislocation 16%
• Microcephaly 16%
• Muscle Hypotonia 16%
• Motor Neurons 13%
• High-Throughput Nucleotide Sequencing 12%
• Age of Onset 12%
• Respiratory Insufficiency 12%
• Lower Extremity 10%
• Pathology 8%
• Phenotype 8%