basal ganglia calcification, idiopathic, 1
MONDO:0024538Mondo
Findings
No curated finding names basal ganglia calcification, idiopathic, 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
4 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Basal ganglia calcificationHPOHP:0002135
- 6 of 8 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 8 reported patients
- SeizureHPOHP:0001250
- 2 of 8 reported patients · Childhood onset
- Abnormal circulating calcium concentrationHPOHP:0004363
- 0 of 8 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SLC20A2HGNC:10947
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
5 names
Resolves to: basal ganglia calcification, idiopathic, 1
- Also called
- basal ganglia calcification, idiopathic, 2basal ganglia calcification, idiopathic, type 1IBGC1IBGC2idiopathic basal ganglia calcification 1