1q43-q44 deletion syndrome

Intellectual disability, microcephaly, seizures, and corpus callosum abnormalities (agenesis/hypoplasia). AKT3 haploinsufficiency drives microcephaly; ZBTB18 contributes to corpus callosum defects.

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)

chr1:243,000,000-248,956,4225.96 Mb78 coding genesDeletion

UCSC DECIPHER gnomAD SV OMIM Unique

Protein-Coding Genes in Region

78 genes · sorted by haploinsufficiency (pHI)

Gene	Disease	pHI	pTS	LOEUF	Pred.	Resources
AKT3key fully contained	—	—	—	—	—	Gene OMIM
ZBTB18key fully contained	—	—	—	—	—	Gene OMIM
HNRNPUkey fully contained	—	—	—	—	—	Gene OMIM
CATSPERE fully contained	—	—	—	—	—	Gene OMIM
KIF26B fully contained	—	—	—	—	—	Gene OMIM
SPMIP3 fully contained	—	—	—	—	—	Gene OMIM
ZNF695 fully contained	—	—	—	—	—	Gene OMIM

Input: “1q43-q44 deletion” · Format: cytoband · Resolved via: curated_syndrome · Assembly: GRCh38