rs58982919, NEFL

N. diseases: 10
Disease: Cerebellar atrophy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cerebellar atrophy
CUI: C0740279
Disease: Cerebellar atrophy
0.010 GeneticVariation BEFREE Patients with E90K and N98S frequently presented before age 3 years and developed hearing loss or other neurological features including ataxia and/or cerebellar atrophy on brain MRI. 28501821 2017