basal ganglia calcification, idiopathic, 10, autosomal recessive
MONDO:0975875Mondo
Findings
No curated finding names basal ganglia calcification, idiopathic, 10, autosomal recessive yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Middle age onset · Young adult onset
HPO, annotations 2026-09-02
Features
15 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.
- Cerebellar calcificationsHPOHP:0007352
- 3 of 3 reported patients
- CSF pleocytosisHPOHP:0012229
- 1 of 1 reported patient
- Globus pallidus calcificationHPOHP:0031627
- 3 of 3 reported patients
- Thalamic calcificationHPOHP:0025041
- 3 of 3 reported patients
- AtaxiaHPOHP:0001251
- 2 of 3 reported patients
- Cognitive impairmentHPOHP:0100543
- 2 of 3 reported patients
- DysarthriaHPOHP:0001260
- 2 of 3 reported patients
- Intracerebral periventricular calcificationsHPOHP:0007229
- 2 of 3 reported patients
- Antinuclear antibody positivityHPOHP:0003493
- 1 of 3 reported patients
- Abnormal circulating calcium concentrationHPOHP:0004363
- 0 of 3 reported patients
- Abnormal circulating phosphate ion concentrationHPOHP:0100529
- 0 of 3 reported patients
- Elevated circulating parathyroid hormone levelHPOHP:0003165
- 0 of 2 reported patients
Show the remaining 3
- HeadacheHPOHP:0002315
- 0 of 3 reported patients
- SeizureHPOHP:0001250
- 0 of 3 reported patients
- Stroke-like episodeHPOHP:0002401
- 0 of 3 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.
- CMPK2HGNC:27015
- Limited · Ambry Genetics · Autosomal recessive · 2025