This is an extremely rare disorder, so far only described in a single Palestinian family. The condiiton is characterized by fetal akinesia deformation sequence, inguinal hernias, hearing loss, and myopathic changes, accomapnied by neonatal death.
Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal recessive
This is an extremely rare disorder, so far only described in a single Palestinian family. The condiiton is characterized by fetal akinesia deformation sequence, inguinal hernias, hearing loss, and myopathic changes, accomapnied by neonatal death.