ISCA-37397-Loss

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green ISCA-37397-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 list
  • Expert list
Phenotypes
  • Chromosome 22q11.2 deletion syndrome, distal, MIM#611867
  • intellectual disability
  • seizures
  • growth retardation
  • multiple congenital anomalies
Tags
  • SV/CNV

Green ISCA-37397-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 list
  • Expert list
Phenotypes
  • Chromosome 22q11.2 deletion syndrome, distal, MIM#611867
  • intellectual disability
  • seizures
  • growth retardation
  • multiple congenital anomalies
Tags
  • SV/CNV

Green ISCA-37397-Loss 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 deletion syndrome, distal, MIM#611867
  • intellectual disability
  • seizures
  • growth retardation
  • multiple congenital anomalies
Tags
  • SV/CNV

Green ISCA-37397-Loss Region in Growth failure


Version 1.87

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Phenotypes
  • Chromosome 22q11.2 deletion syndrome, distal, MIM#611867
  • intellectual disability
  • seizures
  • growth retardation
  • multiple congenital anomalies
Tags
  • SV/CNV