ISCA-37424-Loss

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green ISCA-37424-Loss Region in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.161

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Phenotypes
  • Chromosome 10q22.3q23.2 deletion syndrome (LCR-3/4-flanked)
  • intellectual disability
  • autism
  • macrocephaly
Tags
  • SV/CNV

Green ISCA-37424-Loss Region in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.780

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Phenotypes
  • Chromosome 10q22.3q23.2 deletion syndrome (LCR-3/4-flanked)
  • intellectual disability
  • autism
  • macrocephaly
Tags
  • SV/CNV

Green ISCA-37424-Loss Region in Common deletion and duplication syndromes


Version 0.158

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Chromosome 10q22.3q23.2 deletion syndrome (LCR-3/4-flanked)
  • intellectual disability
  • autism
  • macrocephaly
Tags
  • SV/CNV