4p16.3 deletion syndrome

Greek warrior helmet facies, growth retardation, severe intellectual disability, seizures (90%), and congenital heart defects. Critical region is ~165 kb at 4p16.3.

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)

chr4:68,345-2,000,0001.93 Mb33 coding genesDeletion

UCSC DECIPHER gnomAD SV OMIM Unique

Protein-Coding Genes in Region

33 genes · sorted by haploinsufficiency (pHI)

Gene	Disease	pHI	pTS	LOEUF	Pred.	Resources
NSD2key fully contained	—	—	—	—	—	Gene OMIM
FGFRL1key fully contained	—	—	—	—	—	Gene OMIM
LETM1key fully contained	—	—	—	—	—	Gene OMIM
ZNF718 fully contained	—	—	—	—	—	Gene OMIM
NKX1-1 fully contained	—	—	—	—	—	Gene OMIM
FAM53A fully contained	—	—	—	—	—	Gene OMIM
TMEM271 fully contained	—	—	—	—	—	Gene OMIM

Input: “Wolf-Hirschhorn” · Format: syndrome · Resolved via: curated_syndrome · Assembly: GRCh38