Parents

Clinical features
A mutation in UFC1 gene can lead to a constellation of birth defects in humans termed neurodevelopmental disorder with spasticity and poor growth (NEDSG). The main features of NEDSG include intellectual disability, delay in all areas of development (e.g., crawling, speech, etc.), failure to gain weight, short stature, neurological signs and symptoms (including low tone in the trunk and high tone in the arms and legs, exaggerated reflexes, and abnormalities in eye movement. Other features are more variable and include smaller-than-normal head, constipation, heartburn, and subtle variabilities in facial features that may be different from those common in the family. Seizures were observed in about half of the reported cases. These birth defects are variable in severity.

Prevalence
Largely unknown due to limited data.

Inheritance
Mutations of this gene can be passed on to the next generation in an autosomal recessive manner. This means that if both parents carry a mutation involving this gene (usually without displaying the disease), there is a greater chance that their children are going to inherit the mutations from both parents and display the disease. This is especially important to consider in consanguineous marriage, where the chance of both parents having the same mutation and passing it is greater.