Basel-Vanagaite-Smirin-Yosef syndrome (BVYS) is a rare genetic disorder characterized by intellectual disability, seizures, and facial dysmorphism. It is caused by a mutation in the gene encoding the protein CACNA1A, which is involved in calcium signaling in the brain. Symptoms of BVYS can include developmental delay, intellectual disability, seizures, facial dysmorphism, and hypotonia.

The symptoms of Basel-Vanagaite-Smirin-Yosef syndrome (BVSY) vary from person to person, but may include:

-Developmental delay
-Intellectual disability
-Seizures
-Feeding difficulties
-Growth delays
-Hearing loss
-Vision problems
-Heart defects
-Kidney abnormalities
-Abnormalities of the hands and feet
-Cleft lip and/or palate
-Abnormalities of the head and face
-Abnormalities of the spine
-Abnormalities of the genitalia
-Abnormalities of the urinary tract
-Abnormalities of the gastrointestinal tract
-Abnormalities of the skin

Basel-Vanagaite-Smirin-Yosef syndrome is a rare genetic disorder caused by a mutation in the SLC25A46 gene. This gene is responsible for the production of a protein that helps regulate the transport of molecules across the inner membrane of cells. The mutation in this gene leads to a decrease in the amount of this protein, which can cause a variety of symptoms.

At this time, there is no known cure for Basel-Vanagaite-Smirin-Yosef syndrome. Treatment focuses on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, speech therapy, and other supportive therapies. Medications may also be prescribed to help manage seizures, muscle spasms, and other symptoms. Surgery may be recommended to correct certain physical deformities.

1. Genetic mutation in the BVSY gene
2. Family history of the disorder
3. Being of Ashkenazi Jewish descent
4. Being female
5. Being born prematurely

At this time, there is no known cure or medications for Basel-Vanagaite-Smirin-Yosef syndrome. Treatment is focused on managing the symptoms and providing supportive care. This may include physical therapy, occupational therapy, speech therapy, and other interventions to help improve quality of life.