FA2H, fatty acid 2-hydroxylase, 79152

N. diseases: 131; N. variants: 14
Disease: Exotropia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015310
Disease: Exotropia
Exotropia 		0.010 Biomarker disease BEFREE FAHN/SPG35 manifests with early childhood onset predominantly lower limb spastic tetraparesis and truncal instability, dysarthria, dysphagia, cerebellar ataxia, and cognitive deficits, often accompanied by exotropia and movement disorders. 31135052 2019