basal ganglia calcification, idiopathic, 7, autosomal recessive
MONDO:0032673Mondo
Findings
No curated finding names basal ganglia calcification, idiopathic, 7, 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
- Adult onset · Middle age onset · Progressive
HPO, annotations 2026-09-02
Features
13 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
- 12 of 12 reported patients
- BradykinesiaHPOHP:0002067
- 1 of 1 reported patient
- Brain atrophyHPOHP:0012444
- 1 of 1 reported patient
- Cerebellar dentate nucleus calcificationHPOHP:0002461
- 12 of 12 reported patients
- Diminished deep tendon reflexHPOHP:0001315
- 1 of 1 reported patient
- DysarthriaHPOHP:0001260
- 1 of 1 reported patient
- HypoesthesiaHPOHP:0033748
- 1 of 1 reported patient
- Thalamic calcificationHPOHP:0025041
- 9 of 13 reported patients
- Slurred speechHPOHP:0001350
- 7 of 13 reported patients
- AtaxiaHPOHP:0001251
- 5 of 12 reported patients
- Mental deteriorationHPOHP:0001268
- 3 of 13 reported patients
- MigraineHPOHP:0002076
- 2 of 12 reported patients
Show the remaining 1
- ChoreaHPOHP:0002072
- 1 of 12 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.
- MYORGHGNC:19918
- Definitive · Illumina · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Semidominant · 2025