CSTF2

cleavage stimulation factor subunit 2
OMIM: 300907, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber CSTF2 in Mendeliome


Version 1.1902

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual developmental disorder, X-linked 113, MIM# 301116

Amber CSTF2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual developmental disorder, X-linked 113, MIM# 301116