SOX4-related disorders are characterized by developmental delay, ranging from severe to mild learning difficulties, dysmorphisms (anteverted nares, wide mouth with a cupid bow, and posteriorly rotated ears), fifth finger clinodactyly. Growth is in the low range (3rd-10th centile). Two individuals showed feeding difficulties. One patient had a more severe neurologic involvement, with spastic quadriparesis and cerebellar atrophy. Another one had epilepsy and a mild heart defect.
SOX4