ISCA-37415-Gain

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green ISCA-37415-Gain Region in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.507

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Phenotypes
  • 16p13.11 microduplication syndrome
  • intellectual disability
  • autism
  • aortopathy
Tags
  • SV/CNV

Green ISCA-37415-Gain Region in Common deletion and duplication syndromes


Version 0.146

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • 16p13.11 microduplication syndrome
  • intellectual disability
  • autism
  • aortopathy
Tags
  • SV/CNV