MASA Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** An X-linked recessive condition caused by mutation(s) in the L1CAM gene, encoding neural cell adhesion molecule L1. It is characterized by mental retardation, aphasia, shuffling gait and adducted thumbs.

**Synonyms:** - CRASH Syndrome - Gareis-Mason Syndrome - Intellectual Disability, Aphasia, Shuffling Gait, and Adducted Thumbs - Mental Retardation, Aphasia, Shuffling Gait, and Adducted Thumbs - SPG1 - Spastic Paraplegia, X-linked