Clinical features of SMABF2 can be divided in prenatal signs that include decreased fetal movement, polyhydramnios, multiple long bone fractures arthrogryposis multiplex with talipes equinovarus, stiffness and premature delivery, and neonatal features, such as severe hypotonia, absence of deep tendon reflex, muscle weakness, muscle fiber abnormalities; abnormal cerebral cortical cerebral gyrus and respiratory distress that represent the major cause of the poor prognosis with premature death.
ASCC1