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

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 - pedal digit 3 metatarsal cartilage element

MONDO:0010559 - pedal digit 3 metatarsal cartilage element

MIM:

MIM:303350 - MASA SYNDROME

MIM:303350 - MASA SYNDROME

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

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

Parent(s): brain disease (is_a), hereditary spastic paraplegia (is_a), X-linked recessive disease (is_a)