Located on Chromosome 1, this mutation impacts HPDL, LOC129930439 (4-hydroxyphenylpyruvate dioxygenase like| ATAC-STARR-seq lymphoblastoid active region 964). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities