ISCA-37400-Gain

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green ISCA-37400-Gain Region in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.497

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Phenotypes
  • Chromosome 16p11.2 duplication syndrome, MIM# 614671
  • intellectual disability
  • autism
Tags
  • SV/CNV

Green ISCA-37400-Gain Region in Common deletion and duplication syndromes


Version 0.144

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Chromosome 16p11.2 duplication syndrome, MIM# 614671
  • intellectual disability
  • autism
Tags
  • SV/CNV