ISCA-37425-Gain

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green ISCA-37425-Gain Region in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.434

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Phenotypes
  • Chromosome 5q35 duplication syndrome
  • microcephaly
  • failure to thrive
  • seizures
Tags
  • SV/CNV

Green ISCA-37425-Gain 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 5q35 duplication syndrome
  • microcephaly
  • failure to thrive
  • seizures
Tags
  • SV/CNV

Green ISCA-37425-Gain 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 5q35 duplication syndrome
  • microcephaly
  • failure to thrive
  • seizures
Tags
  • SV/CNV