ISCA-37420-Loss

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Green ISCA-37420-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
  • Koolen-De Vries syndrome, MIM# 610443
  • intellectual disability
  • hypotonia
  • dysmorphic features
Tags
  • SV/CNV