9q34.3 deletion syndrome

Moderate-severe intellectual disability, childhood hypotonia, distinctive facies (midface hypoplasia, synophrys), behavioral problems, and congenital heart defects. EHMT1 is the critical gene.

OMIM GeneReviews 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)

chr9:137,600,000-138,394,717794.7 kb3 coding genesDeletion

UCSC DECIPHER gnomAD SV OMIM Unique

Protein-Coding Genes in Region

3 genes · sorted by haploinsufficiency (pHI)

Gene	Disease	pHI	pTS	LOEUF	Pred.	Resources
EHMT1key fully contained	—	—	—	—	—	Gene OMIM
CACNA1B fully contained	—	—	—	—	—	Gene OMIM
ARRDC1 fully contained	—	—	—	—	—	Gene OMIM

Input: “Kleefstra” · Format: syndrome · Resolved via: curated_syndrome · Assembly: GRCh38