Notably, CACNG4 (enhanced cardiac hypertrophy), ADD2 (low muscle tone), SPTAN1 (epilepsy), SHANK2 (retinal defects), WNT (neuronal abnormality), GABBR2 (neuronal abnormality), CAMK2B (enhanced cardiac hypertrophy/neuronal defects), BEX1 (neuronal defects), and ARSA (neuronal defects) are genes exhibiting significant expression changes in MDS cells at the RNA and protein levels. The gene discussed is SHANK2; the disease is cardiac hypertrophy.