Search Ontology:
Human Disease
MASA syndrome
- Term ID
- DOID:0060246
- Synonyms
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- 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
- 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. (3)
- References
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- GARD:6986
- MESH:C536029
- MIM:303350
- NCI:C129930
- ORDO:2466
- SNOMEDCT_US_2023_03_01:716996008
- UMLS_CUI:C0795953
- Ontology
- Human Disease ( DOID:0060246 )
- is a type of
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Genes Involved
Zebrafish Models