fatty acid hydroxylase-associated neurodegeneration
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:0015150
complex hereditary spastic paraplegia
is_a
MONDO:0015905
syndromic dyslipidemia
is_a
MONDO:0018117
disorder of phospholipids, sphingolipids and fatty acids biosynthesis
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MONDO:0018307
neurodegeneration with brain iron accumulation
is_a
FAHN
exact