ISCA-37397-Gain

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green ISCA-37397-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
  • Chromosome 22q11.2 microduplication syndrome, MIM#608363, distal
  • intellectual disability
  • dysmorphic features
  • congenital anomalies
Tags
  • SV/CNV

Green ISCA-37397-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
  • Chromosome 22q11.2 microduplication syndrome, MIM#608363, distal
  • intellectual disability
  • dysmorphic features
  • congenital anomalies
Tags
  • SV/CNV