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fatty acid hydroxylase-associated neurodegeneration

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a very rare, autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA) characterized by childhood-onset focal dystonia, progressive spastic paraplegia that progresses to tetra paresis, ataxia, dysarthria, intellectual decline, and oculomotor disturbances (optic atrophy), accompanied by iron deposition in the globus pallidus.
Mondo Term and Equivalent IDs
MONDO:0017999:  fatty acid hydroxylase-associated neurodegeneration
GARD:0010810: 
Orphanet:329308: