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. Author manuscript; available in PMC: 2022 Sep 2.
Published in final edited form as: Annu Rev Genomics Hum Genet. 2022 Jun 2;23:301–329. doi: 10.1146/annurev-genom-121321-093528

Figure 2.

Figure 2

JS-MKS-NPH phenotypic and genetic overlap and gene discovery time line. (a) Coarse phenotypic spectrum, from severe MKS to milder JS. This schematic is based on overlapping genetic etiology and phenotypic manifestations. (b) Overlap of genetic etiology from the JS-MKS-NPH spectrum. Genes associated with JS are in blue, those associated with MKS are in purple, and those associated with isolated NPH are in red, with overlap as indicated by shading. (c) Time line of published JS-MKS-NPH-associated genes. Abbreviations: JS, Joubert syndrome; MKS, Meckel syndrome; MRI, magnetic resonance imaging; MTS, molar tooth sign; NPH, nephronophthisis.