2p21 microdeletion syndrome
2p21 microdeletion syndrome
Definition
The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia.
Also known as 2p21 deletion syndrome, 2p21 microdeletion syndrome, Del(2)(p21), monosomy 2p21 — per MONDO