Summary Literature (0)

DOID:0060246 - MASA syndrome

Disease Ontology 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.

Synonyms: CRASH syndrome, Gareis-Mason syndrome, L1 syndrome, SPG1, X-linked complicated hereditary spastic paraplegia type 1, X-linked corpus callosum agenesis, X-linked spastic paraplegia 1, hereditary spastic paraplegia 1,

Echinobase Genes :


OMIM:

MIM:303350 - masa syndrome

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee