fetal akinesia-cerebral and retinal hemorrhage syndrome
A rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate.
MONDO:0017436
lethal congenital contracture syndrome
is_a
MONDO:0019952
congenital myopathy
is_a
LCCS5
related
lethal congenital contracture syndrome 5
related
lethal congenital contracture syndrome type 5
exact