ISCA-37425-Gain

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Green ISCA-37425-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 5q35 duplication syndrome
  • microcephaly
  • failure to thrive
  • seizures
Tags
  • SV/CNV