Clinical features
A mutation in UFM1 gene can lead to a constellation of birth defects in humans termed hypomyelinating leukodystrophy-14.
The main features of NEDSG include intellectual disability, severe delay in all areas of development (e.g., crawling, speech, etc.), low tone in the trunk, arms, and legs, failure to gain weight, short stature, neurological signs and symptoms (including generalized low muscle tone (“floppiness”)), seizures, and smaller-than-normal head . Abnormalities of eye movement and crossed eyes may be seen. Other features are more variable and include subtle variabilities in facial features that may be different from those common in the family, hearing loss, and blindness. Unfortunately, most reported cases in literature were severely affected and usually died in the first few years of life.

Largely unknown due to limited data.

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.