Autosomal recessive spastic paraplegia-93 (SPG93) is characterized by a spectrum of early-onset pure to complex hereditary spastic paraplegia phenotypes associated with a longer survival on one end and neurodevelopmental delay with severe hypotonia on the other (summary by Kaiyrzhanov et al., 2022).
For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see 270800. [from OMIM]
Also known as: CGI-33, HIRIP, HIRIP5, MMDFS, MMDS1, NIFUC, Nfu, NifU, SPG93, NFU1
Summary: NFU1 iron-sulfur cluster scaffold
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