2p21 microdeletion syndrome

From BugSigDB


The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia.
Aliases
  • 2p21 deletion
  • 2p21 deletion syndrome
  • 2p21 microdeletion syndrome
  • Del(2)(p21)
  • Monosomy 2p21
  • monosomy 2p21