Phelan-McDermid syndrome

Description

Monosomy 22q13.3 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.

Cell Lines

Link

For more information, please consult the corresponding entry in Orphanet* .

*Orphanet: an online rare disease and orphan drug data base. Copyright, INSERM 1999. Available on http://www.orpha.net.