8p11.2 deletion syndrome
8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.
MONDO:0016890
partial deletion of the short arm of chromosome 8
is_a
Del(8)(p11.2)
exact
monosomy 8p11.2
exact