L1 syndrome

Also known as SPG1, Adducted Thumb With Mental Retardation, MASA SYNDROME, Clasped Thumb and Mental Retardation, X-linked corpus callosum agenesis, X-linked complicated hereditary spastic paraplegia type 1, Spastic Paraplegia 1, X-Linked, hereditary spastic paraplegia 1

hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range