RBMX

RNA binding motif protein, X-linked
OMIM: 300199, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber RBMX in Mendeliome


Version 1.1902

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Intellectual developmental disorder, syndromic 11, Shashi type, MIM#300238
  • Gustavson syndrome, MIM# 309555

Amber RBMX 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
  • Expert Review
Phenotypes
  • Intellectual developmental disorder, syndromic 11, Shashi type, MIM#300238
  • Gustavson syndrome, MIM# 309555