Variant: rs1553121073

present in Gene: DHDDS present in Chromosome: 1 Position on Chromosome: 26438214 Alleles of this Variant: G/A

rs1553121073 in DHDDS gene and DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES PMID 29100083 2017 High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.