SLC10A7-congenital disorder of glycosylation

SLC10A7-congenital disorder of glycosylation, also known as SLC10A7 deficiency, is a rare condition caused by compound heterozygous mutations in the SLC10A7 gene. While the precise function of this gene in humans is not fully understood, changes in it can affect several systems in the body. Individuals with this condition often experience a variety of symptoms that overlap across different parts of the body. This includes issues with stature, dental enamel formation, skeletal development, facial features, hearing, and intellectual development. The careful combination of these features forms the basis for this diagnosis.

People with this condition may have a range of symptoms such as short stature, problems with tooth enamel (amelogenesis imperfecta), skeletal dysplasia (affecting bone development), unusual facial features, moderate hearing impairment, and mild delays in intellectual development.

The condition is caused by compound heterozygous mutations in the SLC10A7 gene. Although the exact function of the SLC10A7 gene in humans is not yet known, these genetic changes are linked to the symptoms observed in those with this disorder.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.