basal ganglia calcification, idiopathic, type 3

An autosomal dominant condition (OMIM:614540) characterised by symmetrical calcification of basal ganglia and other brain regions, which has a range of clinical presentations, from asymptomatic to neuropsychiatric symptoms including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures and chronic headaches.
Molecular pathology
Defects of SLC20A2, which encodes a sodium-dependent phosphate symporter that plays a key role in phosphate homeostasis, cause idiopathic basal ganglia calcification type 3.

单词	basal ganglia calcification, idiopathic, type 3
释义	basal ganglia calcification, idiopathic, type 3 basal ganglia calcification, idiopathic, type 3 An autosomal dominant condition (OMIM:614540) characterised by symmetrical calcification of basal ganglia and other brain regions, which has a range of clinical presentations, from asymptomatic to neuropsychiatric symptoms including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures and chronic headaches. Molecular pathology Defects of SLC20A2, which encodes a sodium-dependent phosphate symporter that plays a key role in phosphate homeostasis, cause idiopathic basal ganglia calcification type 3.
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