wspóbieny
Wspólny is a rare genetic disorder characterized by the combination of convulsions and intellectual disability. It is a metabolic disorder that affects the body's ability to break down and utilize certain amino acids, which are the building blocks of proteins.
The disorder is caused by mutations in the BSPAG1 gene, which is responsible for encoding a protein
Individuals with wspólny typically experience seizures, muscle spasms, and intellectual disability. The seizures can be severe
Wspólny is an autosomal recessive disorder, meaning that an individual must inherit two copies of the mutated
The disorder is rare and affects a small number of people worldwide. Diagnosis is typically made through