Leukodystrophy, Hypomyelinating, 5 (HLD5)

Leukodystrophy, Hypomyelinating, 5, also known as hypomyelination and congenital cataract, is related to spasticity and leukodystrophy, and has symptoms including abnormal pyramidal signs, action tremor and cerebellar signs. An important gene associated with Leukodystrophy, Hypomyelinating, 5 is HYCC1 (Hyccin PI4KA Lipid Kinase Complex Subunit 1), and among its related pathways/superpathways are Oligodendrocyte specification and differentiation, leading to myelin components for CNS and Glial cell differentiation. Affiliated tissues include eye and brain, and related phenotypes are abnormal pyramidal sign and global developmental delay