ISCA-37392-Loss

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Green ISCA-37392-Loss Region in Common deletion and duplication syndromes


Version 0.137

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Williams-Beuren syndrome, MIM# 194050
  • intellectual disability
  • growth retardation
  • cardiovascular disease
Tags
  • SV/CNV