ISCA_37418-Loss

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Green ISCA_37418-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
  • Smith-Magenis syndrome, MIM# 182290
  • intellectual disability
  • dysmorphic features
  • behavioural issues
Tags
  • SV/CNV