MASA syndrome

Term ID

DOID:0060246

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

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

• GARD:6986
• MESH:C536029
• NCI:C129930
• OMIM:303350
• ORDO:2466
• SNOMEDCT_US_2023_03_01:716996008
• UMLS_CUI:C0795953

Ontology

Human Disease   ( DOID:0060246 )