ISCA-37493-Loss

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Green ISCA-37493-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
  • 1q43q44 microdeletion syndrome
  • intellectual disability
  • seizures
  • microcephaly
  • corpus callosum abnormalities
Tags
  • SV/CNV