ISCA-46290-Gain

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Green ISCA-46290-Gain Region in Common deletion and duplication syndromes


Version 0.137

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Chromosome Xp11.23-p11.22 duplication syndrome MIM#300801
  • intellectual disability
  • seizures