Congenital Arthrogryposis with Anterior Horn Cell Disease (CAAHD)

Congenital Arthrogryposis with Anterior Horn Cell Disease, also known as lethal arthrogryposis-anterior horn cell disease syndrome, is related to fetal akinesia deformation sequence 1 and motor neuron disease. An important gene associated with Congenital Arthrogryposis with Anterior Horn Cell Disease is GLE1 (GLE1 RNA Export Mediator). Affiliated tissues include spinal cord and skeletal muscle, and related phenotypes are seizure and microcephaly