RAB40AL

RAB40A like
OMIM: 300405, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Red RAB40AL 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 Red
  • Genetic Health Queensland
Phenotypes
  • MENTAL RETARDATION, X-LINKED, SYNDROMIC, MARTIN-PROBST TYPE