TMEM165-CDG is a rare genetic disorder caused by a mutation in the TMEM165 gene. It is characterized by a range of physical and neurological symptoms, including intellectual disability, seizures, and movement disorders. It is a very rare disorder, with only a few cases reported in the medical literature.

The symptoms of TMEM165-CDG vary from person to person, but may include: developmental delays, intellectual disability, seizures, Hypotonia (low muscle tone), facial dysmorphism (abnormal facial features), hearing loss, vision problems, and gastrointestinal issues.

TMEM165-CDG is caused by mutations in the TMEM165 gene. These mutations lead to a deficiency in the protein product of the gene, which is involved in the formation of glycosylphosphatidylinositol (GPI) anchors. GPI anchors are important for the proper functioning of many proteins in the body, and a deficiency in them can lead to a wide range of symptoms.

Currently, there is no known cure for TMEM165-CDG. Treatment focuses on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, speech therapy, nutritional support, and medications to help manage seizures, gastrointestinal issues, and other symptoms. Genetic counseling is also recommended for individuals and families affected by TMEM165-CDG.

The risk factors for TMEM165-CDG include:

1. Family history of the disorder
2. Mutation in the TMEM165 gene
3. Consanguinity (marriage between close relatives)
4. Advanced maternal age
5. Exposure to certain environmental toxins or medications during pregnancy.

At this time, there is no cure for TMEM165-CDG. However, there are medications that can help manage the symptoms of the disorder. These include anticonvulsants, muscle relaxants, and medications to help with gastrointestinal issues. Additionally, physical and occupational therapy can help improve mobility and quality of life.