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.

Synonyms: Phelan-McDermid syndrome 22q13.3 deletion

This is just here as a test because I lose it

Term information

database cross reference
expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48652

hasDbXref

ICD-10:Q93.5

UMLS:C1853490

OMIM:606232

has age of onset

http://www.orpha.net/ORDO/Orphanet_409945

http://www.orpha.net/ORDO/Orphanet_409944

has inheritance

http://www.orpha.net/ORDO/Orphanet_409939

http://www.orpha.net/ORDO/Orphanet_409941

has point prevalence range

http://www.orpha.net/ORDO/Orphanet_409981

notation

ORPHA:48652

part of

http://www.orpha.net/ORDO/Orphanet_262182

http://www.orpha.net/ORDO/Orphanet_102283

http://www.orpha.net/ORDO/Orphanet_568047

http://www.orpha.net/ORDO/Orphanet_611327

present in

http://www.orpha.net/ORDO/Orphanet_409991