Mutations in SMG8 gene cause congenital malformations (birth defects) involving the:
General:
- Global developmental delay
- Short height
- Microcephaly (small head)
Brain and central nervous system:
- Intellectual disability
- Abnormal white matter of the brain
- Brain atrophy (loss of brain neurons and the connections between them)
Heart:
- Most commonly: ventricular and atrial septal defects (defect in the walls of the heart)
Head and Neck:
- Malformations involving the face, including prominent nose, prominent nasolabial folds, and large ears. Additional features that were reported include depressed nasal bridge and micrognathia (small jaw).
- Abnormalities of the eye, including strabismus (crossed eyes) and cataract
Genitourinary (present in a few reported cases):
- Hypospadias (condition in which the opening of the penis is on the underside rather than the tip.)