All individuals with variants in gene CLCF1

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00371664 patients PubMed: Melo 2015 73 patients F;M - Brazil - - 0 - - SPOAN progressive spastic paraplegia in infancy, progressive motor and sensory axonal neuropathy in late childhood/early adolescence leading to severe motor disability; >15y-wheelchair bound, progressive joint contractures, spine deformities; subnormal vision secondary to apparently non-progressive congenital optic atrophy, dysarthria starting third decade of life, exacerbated acoustic startle response; no intellectual disability 1 73 Johan den Dunnen
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