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BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 10, AUTOSOMAL RECESSIVE(IBGC10)

MedGen UID:
1057127
Concept ID:
CN378720
Disease or Syndrome
Synonym: IBGC10
 
Gene (location): CMPK2 (2p25.2)
 
OMIM®: 621018

Definition

Autosomal recessive idiopathic basal ganglia calcification-10 (IBGC10) is a progressive neurologic disorder characterized by motor dysfunction, speech impairment, and impaired cognition. Brain CT imaging shows calcification in the bilateral globus pallidus, thalamus, and cerebellum (summary by Zhao et al., 2022). For a phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (213600). [from OMIM]

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