Spastic paraplegia 1: Difference between revisions
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Latest revision as of 08:06, 4 February 2025
Alternate names
MASA syndrome; Gareis-Mason syndrome; Crash syndrome
Definition
A X-linked, clinical subtype of L1 syndrome, characterized by mild to moderate intellectual disability, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles.
NIH genetic and rare disease info
Spastic paraplegia 1 is a rare disease.
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Rare diseases - Spastic paraplegia 1
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Spastic paraplegia 1
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