ISCA-37393-Gain

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Green ISCA-37393-Gain Region in Common deletion and duplication syndromes


Version 0.137

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Cat eye syndrome, MIM# 115470
  • coloboma
  • anal atresia
  • heart and renal malformations
Tags
  • SV/CNV