ISCA-46302-Gain

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green ISCA-46302-Gain Region in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.54

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • ClinGen
  • ClinGen
Phenotypes
  • 46,XY sex reversal 2, MONDO:0010226

Red ISCA-46302-Gain Region in Common deletion and duplication syndromes


Version 0.158

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • ClinGen
Phenotypes
  • 46,XY sex reversal 2, MONDO:0010226