ISCA-37431-Gain

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Green ISCA-37431-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 17q11.2 duplication syndrome, 1.4-Mb MIM#618874
  • NF1 microduplication
  • intellectual disability
  • micro- and macrocephaly
  • seizures
  • dysmorphic features