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