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GTR Home > Conditions/Phenotypes > Basal ganglia calcification, idiopathic, 9, autosomal recessive

Basal ganglia calcification, idiopathic, 9, autosomal recessive

Summary

Autosomal recessive idiopathic basal ganglia calcification-9 (IBGC9) is characterized by a combination of features including ataxia, parkinsonism, headache, and psychiatric and cognitive deficits, with high intrafamilial phenotypic variability and age at onset (Chelban et al., 2024). For a phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (213600). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: HAT4, IBGC9, NAT15, NatF, hNaa60, NAA60
    Summary: N-alpha-acetyltransferase 60, NatF catalytic subunit

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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