Parents

Clinical features
A mutation in P4HTM gene can lead to birth defects in humans. These birth defects may involve multiple organ systems, including the brain, eyes, and lungs. Mutations in P4HTM may also lead to a delay in the developmental milestones of the child (e.g. delayed walking, delayed speaking), obesity, and variable mild deformities in the shape of the face.

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.