L1-syndrome(English)

• a rare X linked recessive disorder caused by gene mutations in the L1 cell adhesion molecule, and characterized by hydrocephalus, intellectual disability, adducted thumbs and spasticity of the legs. The gene encodes a protein which plays an important role in neuronal development; aka HSAS, aqueductal stenosis, X-linked L1 disease, L1 spectrum, MASA syndrome
• L1CAM, HSAS, MASA
• Congenital disorders, Brain (dys)function
• https://doi.org…uro.2018.06.007