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familial infantile bilateral striatal necrosis

Disease Summary
Associated Targets (4)


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Mondo Description Familial infantile bilateral striatal necrosis is 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.
Uniprot Description Neurological disorder characterized by symmetrical degeneration of the caudate nucleus, putamen, and occasionally the globus pallidus, with little involvement of the rest of the brain. The clinical features include developmental regression, choreoathetosis, dystonia, spasticity, dysphagia, failure to thrive, nystagmus, optic atrophy, and mental retardation.
Mondo Term and Equivalent IDs
MONDO:0010080:  familial infantile bilateral striatal necrosis
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
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