Familial infantile bilateral striatal necrosis

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Name:
Familial infantile bilateral striatal necrosis
Description:
Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.
ORPHAcode:
225154
Synonyms:
Familial IBSN
Familial infantile striatonigral degeneration
Familial infantile striatonigral necrosis
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14