ISCA-37392-Loss

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green ISCA-37392-Loss Region in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.511

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Expert Review
Phenotypes
  • Williams-Beuren syndrome, MIM# 194050
  • intellectual disability
  • growth retardation
  • cardiovascular disease
Tags
  • SV/CNV

Green ISCA-37392-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
  • Williams-Beuren syndrome, MIM# 194050
  • intellectual disability
  • growth retardation
  • cardiovascular disease
Tags
  • SV/CNV

Green ISCA-37392-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
  • Williams-Beuren syndrome, MIM# 194050
  • intellectual disability
  • growth retardation
  • cardiovascular disease
Tags
  • SV/CNV

Green ISCA-37392-Loss Region in Growth failure


Version 1.87

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Expert Review
Phenotypes
  • Williams-Beuren syndrome, MIM# 194050
  • intellectual disability
  • growth retardation
  • cardiovascular disease
Tags
  • SV/CNV