2q37 deletion syndrome

Brachydactyly (short 4th/5th metacarpals), intellectual disability, behavioral issues (ASD features), obesity, round face. Key gene HDAC4.

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)

chr2:234,300,000-242,193,5297.89 Mb65 coding genesDeletion

Protein-Coding Genes in Region

65 genes · sorted by haploinsufficiency (pHI)

Gene	Disease	pHI	pTS	LOEUF	Pred.	Resources
HDAC4key fully contained	—	—	—	—	—	Gene OMIM
FARP2key fully contained	—	—	—	—	—	Gene OMIM
ARL4C fully contained	—	—	—	—	—	Gene OMIM
UBE2F-SCLY fully contained	—	—	—	—	—	Gene OMIM
ERFE fully contained	—	—	—	—	—	Gene OMIM
RBM44 fully contained	—	—	—	—	—	Gene OMIM
GBX2 fully contained	—	—	—	—	—	Gene OMIM

Input: “2q37 deletion” · Format: cytoband · Resolved via: curated_syndrome · Assembly: GRCh38