SLC35A1-CDG is a rare genetic disorder caused by mutations in the SLC35A1 gene. It is a form of congenital disorder of glycosylation (CDG) that affects the body's ability to properly process sugar molecules. Symptoms of SLC35A1-CDG can include developmental delays, intellectual disability, seizures, vision and hearing problems, and skeletal abnormalities.

The symptoms of SLC35A1-CDG vary from person to person, but can include:

-Developmental delay
-Intellectual disability
-Seizures
-Feeding difficulties
-Growth retardation
-Hearing loss
-Vision problems
-Muscle weakness
-Abnormal gait
-Frequent infections
-Gastrointestinal problems
-Skin rashes
-Abnormal blood sugar levels
-Abnormal liver function tests
-Abnormal kidney function tests
-Abnormal heart rhythm

SLC35A1-CDG is caused by mutations in the SLC35A1 gene. This gene provides instructions for making a protein that is involved in the transport of sugar molecules into cells. Mutations in this gene lead to a deficiency of the SLC35A1 protein, which disrupts the transport of sugar molecules and causes the signs and symptoms of SLC35A1-CDG.

Currently, there is no cure for SLC35A1-CDG. Treatment focuses 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, pain, and other symptoms. In some cases, surgery may be recommended to correct certain physical abnormalities.

The risk factors for SLC35A1-CDG include:

1. Family history of the disorder
2. Mutation in the SLC35A1 gene
3. Being of Ashkenazi Jewish descent
4. Being of Italian descent
5. Being of Spanish descent
6. Being of Portuguese descent
7. Being of French Canadian descent
8. Being of North African descent

At this time, there is no cure for SLC35A1-CDG. However, there are medications and treatments available to help manage the symptoms of the disorder. These include physical therapy, occupational therapy, speech therapy, dietary modifications, and medications to help with seizures, breathing, and other symptoms.