basal ganglia calcification, idiopathic, 9, autosomal recessive
MONDO:0968977Mondo
Findings
No curated finding names basal ganglia calcification, idiopathic, 9, 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
- Infantile onset · Young adult onset
HPO, annotations 2026-09-02
Features
39 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.
- AtaxiaHPOHP:0001251
- 6 of 7 reported patients
- Basal ganglia calcificationHPOHP:0002135
- 7 of 9 reported patients
- Cerebellar calcificationsHPOHP:0007352
- 6 of 9 reported patients
- Abnormal pyramidal signHPOHP:0007256
- 5 of 10 reported patients
- Abnormality of extrapyramidal motor functionHPOHP:0002071
- 1 of 2 reported patients
- SeizureHPOHP:0001250
- 5 of 10 reported patients
- ParkinsonismHPOHP:0001300
- 4 of 9 reported patients
- Reduced cerebral white matter volumeHPOHP:0034295
- 2 of 6 reported patients
- DystoniaHPOHP:0001332
- 3 of 10 reported patients
- MacrocephalyHPOHP:0000256
- 3 of 10 reported patients
- MigraineHPOHP:0002076
- 3 of 10 reported patients
- Mild intellectual disabilityHPOHP:0001256
- 3 of 10 reported patients
Show the remaining 27
- AnarthriaHPOHP:0002425
- 2 of 9 reported patients
- Subcortical white matter calcificationsHPOHP:0007346
- 2 of 9 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 2 of 10 reported patients
- DysphagiaHPOHP:0002015
- 2 of 10 reported patients
- MicrocephalyHPOHP:0000252
- 2 of 10 reported patients
- PolymicrogyriaHPOHP:0002126
- 1 of 6 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.
- NAA60HGNC:25875
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2024