ISCA-37408-Loss

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Green ISCA-37408-Loss Region in Common deletion and duplication syndromes


Version 0.137

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Chromosome 2p16.1-p15 deletion syndrome 612513
  • intellectual disability
  • autism
  • microcephaly
  • dysmorphic features
Tags
  • SV/CNV