FIGURE

Fig. 1

ID

ZDB-FIG-260623-31

Publication

Matheny-Rabun et al., 2026 - Genetic variants in Rps4x cause intellectual disability with dysmorphic features, microcephaly, and autism

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Fig. 1

de novo variants in RPS4X co-segregate with intellectual disability in males from a multi-generational family.
A A multi-generational pedigree shows two males siblings with intellectual disability carry the p.(Arg221Gln) RPS4X variant, with all female carriers exhibiting skewed X-inactivation. Unaffected males do not carry the variant. Testing was not possible in the deceased affected uncle. B Schematic of the X- and Y chromosomes denote the location of RPS4X (relative to the X-IST loci) and RPS4Y.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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