ISCA-37396-Loss

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green ISCA-37396-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 list
  • Expert list
Phenotypes
  • Chromosome 15q24 deletion syndrome, MIM#613406
  • intellectual disability
  • facial dysmorphisms
  • congenital malformations of the hands and feet, eye, and genitalia
  • joint laxity
  • and growth retardation and failure to thrive
Tags
  • SV/CNV

Green ISCA-37396-Loss Region in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.508

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Phenotypes
  • Chromosome 15q24 deletion syndrome, MIM#613406
  • intellectual disability
  • facial dysmorphisms
  • congenital malformations of the hands and feet, eye, and genitalia
  • joint laxity
  • and growth retardation and failure to thrive
Tags
  • SV/CNV

Green ISCA-37396-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 15q24 deletion syndrome, MIM#613406
  • intellectual disability
  • facial dysmorphisms
  • congenital malformations of the hands and feet, eye, and genitalia
  • joint laxity
  • and growth retardation and failure to thrive
Tags
  • SV/CNV