Disease-gene associations mined from literature

Human genes for MASA syndrome

MASA syndrome [DOID:0060246]

A 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.

Synonyms:  MASA syndrome,  DOID:0060246,  MASA disease,  MASA disorder,  MASA syndromes ...