The association between HK1 (Hexokinase 1) and Neurodevelopmental Disorder With Visual Defects And Brain Anomalies is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and causative variation.
Sources4
Clinical variants36
Symptoms56
Compounds0
Trials0
Publications2
01
At a glance
Association overview
A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.
