5p15.2-p15.33 deletion syndrome

High-pitched cat-like cry in infancy, microcephaly, severe intellectual disability, and distinctive facies. Critical region for cry phenotype maps to 5p15.3 (CTNND2). ~1:15,000-50,000.

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)

chr5:100,000-11,700,00011.60 Mb49 coding genesDeletion

UCSC DECIPHER gnomAD SV OMIM Unique

Protein-Coding Genes in Region

49 genes · sorted by haploinsufficiency (pHI)

Gene	Disease	pHI	pTS	LOEUF	Pred.	Resources
TERTkey fully contained	—	—	—	—	—	Gene OMIM
SEMA5Akey fully contained	—	—	—	—	—	Gene OMIM
CTNND2key - strand	—	—	—	—	—	Gene OMIM
LRRC14B fully contained	—	—	—	—	—	Gene OMIM
SLC9A3 fully contained	—	—	—	—	—	Gene OMIM
PDCD6-AHRR fully contained	—	—	—	—	—	Gene OMIM
ZDHHC11 fully contained	—	—	—	—	—	Gene OMIM

Input: “Cri du chat” · Format: syndrome · Resolved via: curated_syndrome · Assembly: GRCh38