familial infantile bilateral striatal necrosis
The familial form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.
MONDO:0002254
syndromic disease
is_a
MONDO:0003122
striatonigral degeneration
is_a
MONDO:0015518
infantile bilateral striatal necrosis
is_a
FBSN
related
SNDI
related
familial IBSN
exact
familial bilateral striatal necrosis
related
familial infantile striatonigral degeneration
exact
familial infantile striatonigral necrosis
exact
hereditary infantile bilateral striatal necrosis
exact
striatonigral degeneration, infantile
related
SPAC26A3.15c SPMIT.07