Here is a mutation in LOC129996745, PHIP (ATAC-STARR-seq lymphoblastoid silent region 17346| PHIP subunit of CUL4-Ring ligase complex) on Chromosome 6. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome