MASA syndrome

Summary

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, 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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: l1cam

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010559 - MASA syndrome

MONDO:0010559 - MASA syndrome

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

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

Parent(s): hereditary spastic paraplegia (is_a)