Mutations in the DDX59 gene may cause the following signs and symptoms:
- Cleft palate (defect of the roof of the mouth manifested as an abnormal ‘opening’ or a ‘split’)
- Cleft lip (defect of the lips manifested as an abnormal ‘opening’ or a ‘split’)
- Bifid uvula (split in the uvula, the piece of flesh at the back of the mouth)
- Lobulated tongue
- Multiple oral frenula (folds of tissue the connects the tongue to the floor of the mouth and the lips to the gums)
- Facial dysmorphia, including prominence of the forehead and increased distance between the eyes
- Possession of extra fingers or toes
- Intellectual disability
- Seizures
- Floppy limbs
- Developmental delay
Some patients may have:
- Heart anomalies
- Scoliosis (sideways curvature of the spine)
- Fused kidneys
- Defect in the formation of corpus callosum (the part that connects the two hemispheres of the brain)
- Hirschsprung disease (blockage of the intestines)