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Metadata
DOID DOID:0060246
Name MASA syndrome
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.
http://en.wikipedia.org/wiki/MASA_syndrome, http://ghr.nlm.nih.gov/condition/l1-syndrome, https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1097/viewAbstract
Xrefs

GARD:6986

MESH:C536029

NCI:C129930

OMIM:303350

ORDO:2466

UMLS_CUI:C0795953

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

CRASH syndrome [EXACT]

Gareis-Mason syndrome [EXACT]

hereditary spastic paraplegia 1 [EXACT]

L1 syndrome [EXACT]

SPG1 [EXACT]

X-linked complicated hereditary spastic paraplegia type 1 [EXACT]

X-linked corpus callosum agenesis [EXACT]

X-linked spastic paraplegia 1 [EXACT]

Relationships

is_a hereditary spastic paraplegia

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