ISCA-37397-Loss

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Green ISCA-37397-Loss 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 22q11.2 deletion syndrome, distal, MIM#611867
  • intellectual disability
  • seizures
  • growth retardation
  • multiple congenital anomalies
Tags
  • SV/CNV