Summary

Carnosinemia, also known as carnosinase deficiency,is related to homocarnosinosis and spasticity,and has symptoms including seizures, eeg abnormality and developmental regression. An important gene associated with Carnosinemia is CNSN (Carnosinemia (Carnosinase))

All SNPs

Disease Hierarchy

Processes Associated With Trait

Pathways Associated With Trait

Symptoms Associated With Trait