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Retinitis pigmentosa 51
Any retinitis pigmentosa in which the cause of the disease is a mutation in the TTC8 gene. [from MONDO]
Bardet-Biedl syndrome 8
BBS8 is an autosomal recessive disorder characterized by retinitis pigmentosa, obesity, postaxial polydactyly, hypogonadism, and developmental delay (Ansley et al., 2003). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). [from OMIM]
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