ISCA-37390-Loss

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green ISCA-37390-Loss Region in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.376

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Expert Review
Phenotypes
  • Cri-du-chat syndrome MIM#123450
  • intellectual disability
  • microcephaly
Tags
  • SV/CNV

Green ISCA-37390-Loss 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 Review
  • Expert Review
Phenotypes
  • Cri-du-chat syndrome MIM#123450
  • intellectual disability
  • microcephaly
Tags
  • SV/CNV

Green ISCA-37390-Loss Region in Common deletion and duplication syndromes


Version 0.146

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Cri-du-chat syndrome MIM#123450
  • intellectual disability
  • microcephaly
Tags
  • SV/CNV