14q12 deletion syndrome

Severe intellectual disability, absent speech, dyskinesia, epilepsy, corpus callosum hypoplasia. Overlapping features with Rett syndrome. FOXG1 is the critical gene.

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)

chr14:28,700,000-29,700,0001.00 Mb2 coding genesDeletion

UCSC DECIPHER gnomAD SV OMIM Unique

Protein-Coding Genes in Region

2 genes · sorted by haploinsufficiency (pHI)

Gene	Disease	pHI	pTS	LOEUF	Pred.	Resources
FOXG1key fully contained	—	—	—	—	—	Gene OMIM
PRKD1 - strand	—	—	—	—	—	Gene OMIM

Input: “14q12 deletion” · Format: cytoband · Resolved via: curated_syndrome · Assembly: GRCh38