22q13.3 deletion syndrome

Global developmental delay, absent/severely delayed speech, neonatal hypotonia, ASD, and epilepsy. SHANK3 haploinsufficiency is the critical gene. Phenotypic overlap with ASD and ID.

OMIM Unique Guide

Click ideogram to open in UCSC Genome Browser

pHI ≥ 0.86 ≥ 0.5 ≥ 0.2 < 0.2 / n/a key gene

Gene content — colored by haploinsufficiency (pHI)

chr22:49,500,000-50,818,4681.32 Mb37 coding genesDeletion

UCSC DECIPHER gnomAD SV OMIM Unique

Protein-Coding Genes in Region

37 genes · sorted by haploinsufficiency (pHI)

Gene	Disease	pHI	pTS	LOEUF	Pred.	Resources
SHANK3key fully contained	—	—	—	—	—	Gene OMIM
ACR fully contained	—	—	—	—	—	Gene OMIM
PANX2 fully contained	—	—	—	—	—	Gene OMIM
SYCE3 fully contained	—	—	—	—	—	Gene OMIM
CHKB-CPT1B fully contained	—	—	—	—	—	Gene OMIM
SELENOO fully contained	—	—	—	—	—	Gene OMIM
ADM2 fully contained	—	—	—	—	—	Gene OMIM

Input: “Phelan-McDermid” · Format: syndrome · Resolved via: curated_syndrome · Assembly: GRCh38