Mutations in RTTN gene cause congenital malformations (birth defects) involving the:
Brain and central nervous system:
- Microcephaly (smaller than normal head) and the associated problems, including seizures, developmental delay, mental retardation, facial distoration, and commonly dwarfism (short stature).
- Decrease in the size of the brain
- Craniosynostosis (premature fusion of the joints between the bones of an infant skull)
- Absence or decrease in the number of normal convolutions (folds) in the brain
- Increase in the number of folds in the brain with shallow groove
- Seizures
- Cognitive disabilities
- Stiff or floppy limbs
Other organs and structures:
- Missing one or both kidneys
- Abnormal location of a kidney
- Undescended testes
- Abnormal location of the opening of the urethra, e.g. on the underside of the penis instead of at the tip.
- Joint contractures (shortening of a joint)
- Abnormalities in the structure of the sacrum (the lower part of the back)