Human genes for SPOAN syndrome
SPOAN syndrome [DOID:0060491]
A neurodegenerative disease characterized by spastic paraplegia, axonal neuropathy, dysarthria, acoustic startle, and congenital optical atrophy and that has_material_basis_in homozygous mutation in the KLC2 gene on chromosome 11q13.2.
Synonyms: SPOAN syndrome, DOID:0060491, SPOAN disease, SPOAN disorder, SPOAN syndromes ...