OBO ID: DOID:0060246
Term Name: MASA syndrome Search Ontology:
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)
OTHER MASA syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
L1CAM MASA syndrome 303350
CRASH syndrome 303350
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None