ISCA-37392-Gain

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green ISCA-37392-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 Review
  • Expert Review
Phenotypes
  • Chromosome 7q11.23 duplication syndrome, MIM# 609757
  • intellectual disability
  • hypotonia
  • macrocephaly
  • seizures
  • aortic dilatation
Tags
  • SV/CNV

Green ISCA-37392-Gain Region in Common deletion and duplication syndromes


Version 0.146

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Chromosome 7q11.23 duplication syndrome, MIM# 609757
  • intellectual disability
  • hypotonia
  • macrocephaly
  • seizures
  • aortic dilatation
Tags
  • SV/CNV