17q21.31 deletion syndrome

17q21.31 deletion syndrome

Intellectual disability, friendly/amiable behavior, epilepsy (~50%), distinctive facies with pear-shaped nose, and congenital anomalies. ~1:16,000.

OMIM GeneReviews Unique Guide

Click ideogram to open in UCSC Genome Browser

chr17pqDEL17q21.311.2 Mb45.6M46.8Mp13.3p12p11.2q11.2q12q22q24.3q25.1

Gene content — colored by haploinsufficiency (pHI)

chr17:45,600,000-46,800,0001.20 Mb0 coding genesDeletion
UCSC DECIPHER gnomAD SV OMIM Unique
Partial errors:
  • ensembl: Error: Ensembl gene overlap fetch failed: Error: Ensembl overlap failed: 500
Input: “Koolen-de Vries” · Format: syndrome · Resolved via: curated_syndrome · Assembly: GRCh38