Search Ontology:
Human Disease

MASA syndrome

Term ID
DOID:0060246
Synonyms
  • CRASH syndrome
  • Gareis-Mason syndrome
  • hereditary spastic paraplegia 1
  • L1 syndrome
  • SPG1
  • X-linked complicated hereditary spastic paraplegia type 1
  • X-linked corpus callosum agenesis
  • X-linked spastic paraplegia 1
Definition
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. (3)
References
Ontology
Human Disease   ( DOID:0060246 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models