14q12 deletion syndrome

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

chr14pqDEL14q121.0 Mb28.7M29.7Mp11.2q11.2q21.1q23.1q24.3q31.1q32.2

Gene content — colored by haploinsufficiency (pHI)

chr14:28,700,000-29,700,0001.00 Mb0 coding genesDeletion
UCSC DECIPHER gnomAD SV OMIM Unique
Partial errors:
  • ensembl: Error: Ensembl gene overlap fetch failed: Error: Ensembl overlap failed: 500
Input: “14q12 deletion” · Format: cytoband · Resolved via: curated_syndrome · Assembly: GRCh38