basal ganglia calcification, idiopathic, 8, autosomal recessive
MONDO:0032938Mondo
Findings
No curated finding names basal ganglia calcification, idiopathic, 8, autosomal recessive yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
19 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
- 7 of 7 reported patients
- Cerebellar calcificationsHPOHP:0007352
- 6 of 7 reported patients
- Limb ataxiaHPOHP:0002070
- 6 of 7 reported patients
- Babinski signHPOHP:0003487
- 5 of 7 reported patients
- BradykinesiaHPOHP:0002067
- 5 of 7 reported patients
- Brisk reflexesHPOHP:0001348
- 5 of 7 reported patients
- HypertoniaHPOHP:0001276
- 5 of 7 reported patients
- ParkinsonismHPOHP:0001300
- 5 of 7 reported patients
- Thalamic calcificationHPOHP:0025041
- 5 of 7 reported patients
- Mental deteriorationHPOHP:0001268
- 4 of 6 reported patients
- DysarthriaHPOHP:0001260
- 3 of 7 reported patients
- RigidityHPOHP:0002063
- 3 of 7 reported patients
Show the remaining 7
- Hypomimic faceHPOHP:0000338
- 2 of 7 reported patients
- Limb dystoniaHPOHP:0002451
- 2 of 7 reported patients
- NystagmusHPOHP:0000639
- 2 of 7 reported patients
- Orofacial dyskinesiaHPOHP:0002310
- 2 of 7 reported patients
- Autistic behaviorHPOHP:0000729
- 1 of 7 reported patients
- Generalized dystoniaHPOHP:0007325
- 1 of 7 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.
- JAM2HGNC:14686
- Strong · Ambry Genetics · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025