brain small vessel disease 3
MONDO:0100105Mondo
Findings
No curated finding names brain small vessel disease 3 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
HPO, annotations 2026-09-02
Features
10 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.
- Cerebral calcificationHPOHP:0002514
- 2 of 2 reported patients
- LeukoencephalopathyHPOHP:0002352
- 2 of 2 reported patients
- Cerebral atrophyHPOHP:0002059
- 1 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 1 of 2 reported patients
- HypotoniaHPOHP:0001252
- 1 of 2 reported patients
- Lacunar strokeHPOHP:0032325
- 1 of 2 reported patients
- Porencephalic cystHPOHP:0002132
- 1 of 2 reported patients
- SeizureHPOHP:0001250
- 1 of 2 reported patients
- Severe intellectual disabilityHPOHP:0010864
- 1 of 2 reported patients
- Spastic tetraplegiaHPOHP:0002510
- 1 of 2 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.
- COLGALT1HGNC:26182
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Moderate · Ambry Genetics · Autosomal recessive · 2021
- Moderate · ClinGen · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
1 name
Resolves to: brain small vessel disease 3
- Also called
- BSVD3