SLC39A8-CDG is a rare genetic disorder caused by a mutation in the SLC39A8 gene. It is characterized by severe neurological and developmental delays, as well as a variety of physical abnormalities. It is inherited in an autosomal recessive manner, meaning that both parents must carry the mutated gene in order for a child to be affected.

The symptoms of SLC39A8-CDG vary from person to person, but can include: developmental delay, intellectual disability, seizures, Hypotonia (low muscle tone), Ataxia (lack of muscle coordination), vision and hearing problems, feeding difficulties, and growth delays.

SLC39A8-CDG is caused by mutations in the SLC39A8 gene. These mutations lead to a deficiency in the protein product of the gene, which is involved in the transport of copper into cells. This deficiency can lead to a variety of symptoms, including developmental delays, seizures, and movement disorders.

Currently, there is no specific treatment for SLC39A8-CDG. Treatment is focused on managing the symptoms and complications of the disorder. This may include physical therapy, occupational therapy, speech therapy, dietary modifications, and medications to manage seizures, gastrointestinal issues, and other symptoms. In some cases, surgery may be recommended to address certain complications.

The risk factors for SLC39A8-CDG include:

1. Family history of the disorder
2. Mutation in the SLC39A8 gene
3. Exposure to certain environmental toxins
4. Low levels of certain vitamins and minerals
5. Certain medications or treatments
6. Exposure to certain infections or viruses

At this time, there is no known cure or medications for SLC39A8-CDG. Treatment is focused on managing the symptoms of the disorder, which can include physical therapy, occupational therapy, speech therapy, and dietary modifications.