| Metadata | |
|---|---|
| ID | 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 |
SNOMEDCT_US_2023_03_01:716996008 |
| 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] |
| Parent Relationships |
is_a brain disease |