Variant: rs1553338592

present in Gene: FBXO11 present in Chromosome: 2 Position on Chromosome: 47823147 Alleles of this Variant: T/C

rs1553338592 in FBXO11 gene and INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES PMID 27620904 2017 High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing.

PMID 29796876 2018 De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies.

PMID 30057029 2018 De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.