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
CHKB-CPT1B fully contained	—	—	—	—	—	Gene OMIM
IL17REL fully contained	—	—	—	—	—	Gene OMIM
TTLL8 fully contained	—	—	—	—	—	Gene OMIM
KLHDC7B fully contained	—	—	—	—	—	Gene OMIM
DENND6B fully contained	—	—	—	—	—	Gene OMIM
PLXNB2 fully contained	—	—	—	—	—	Gene OMIM

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