basal ganglia calcification, idiopathic, 4
MONDO:0014004Mondo
Findings
No curated finding names basal ganglia calcification, idiopathic, 4 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
- Late onset · Middle age onset · Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
7 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
- 10 of 12 reported patients
- MigraineHPOHP:0002076
- 3 of 13 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 1 of 13 reported patients
- Bipolar affective disorderHPOHP:0007302
- 1 of 13 reported patients
- DementiaHPOHP:0000726
- 1 of 13 reported patients
- Horizontal nystagmusHPOHP:0000666
- 1 of 13 reported patients
- ParkinsonismHPOHP:0001300
- 1 of 13 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.
- PDGFRBHGNC:8804
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2015
Where it sits
Other names
1 name
Resolves to: basal ganglia calcification, idiopathic, 4
- Also called
- basal ganglia calcification, idiopathic, type 4