Variant: rs368085185

present in Gene: NBAS present in Chromosome: 2 Position on Chromosome: 15539327 Alleles of this Variant: G/A

rs368085185 in NBAS gene and Developmental delay (disorder) PMID 26286438 2015 NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina.

rs368085185 in NBAS gene and INFANTILE LIVER FAILURE SYNDROME 2 PMID 26286438 2015 NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina.