Mucolipidosis III Gamma (GNPTG)

Mucolipidosis III gamma is a pan-ethnic, autosomal recessive disease caused by pathogenic variants in the gene GNPTG. Symptoms begin in early childhood and progress over time. Affected individuals often have heart problems that may require surgery, difficulty breathing, and joint stiffness. People with mucolipidosis III gamma are shorter than average and have unusual facial features. The effect on life expectancy is not known due to the relatively recent discovery of this disorder. It is not currently possible to predict how severe the disease will be based on the type of inherited variants.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):