1p36 deletion syndrome

1p36 deletion syndrome

Intellectual disability, seizures, cardiomyopathy, hearing loss, and distinctive facies with straight eyebrows. Most common terminal deletion syndrome (~1:5,000-10,000).

OMIM Unique Guide

Click ideogram to open in UCSC Genome Browser

chr1pqDEL1p36.33-p36.316.1 Mb100k6.2Mp31.1q12q41

Gene content — colored by haploinsufficiency (pHI)

chr1:100,000-6,151,1936.05 Mb0 coding genesDeletion
UCSC DECIPHER gnomAD SV OMIM Unique
Partial errors:
  • ensembl: Error: Ensembl gene overlap fetch failed: Error: Ensembl overlap failed: 500
Input: “1p36 deletion” · Format: cytoband · Resolved via: curated_syndrome · Assembly: GRCh38