ISCA-37421-Gain

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Green ISCA-37421-Gain Region in Common deletion and duplication syndromes


Version 0.137

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Chromosome 1q21.1 duplication syndrome, MIM# 612475
  • intellectual disability
  • autism
  • macrocephaly
Tags
  • SV/CNV