Terminology Service for NFDI4Health
MASA Syndrome
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http://purl.obolibrary.org/obo/NCIT_C129930
An X-linked recessive condition caused by mutation(s) in the L1CAM gene, encoding neural cell adhesion molecule L1. It is characterized by mental retardation, aphasia, shuffling gait and adducted thumbs. [ ]
Term info
Label
MASA Syndrome
Synonyms
- CRASH Syndrome
- Gareis-Mason Syndrome
- MASA Syndrome
- Mental retardation, Aphasia, Shuffling Gait, and Adducted Thumbs
- SPG1
- Spastic Paraplegia, X-linked
Preferred Name
MASA Syndrome
Semantic Type
Disease or Syndrome
UMLS CUI
C0795953
code
C129930