ISCA-37468-Loss

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Green ISCA-37468-Loss Region in Common deletion and duplication syndromes


Version 0.137

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Chromosome Xp11.3 deletion syndrome MIM#300578
  • intellectual disability
  • retinal dystrophy
Tags
  • SV/CNV