brain small vessel disease 2A, autosomal dominant
Findings
No curated finding names brain small vessel disease 2A, autosomal dominant yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any porencephaly in which the cause of the disease is a mutation in the COL4A2 gene.
Definition from the Mondo Disease Ontology (MONDO:0013773), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Typified by incomplete penetrance
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.
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Growth delayHPOHP:0001510
- 2 of 2 reported patients
- PolymicrogyriaHPOHP:0002126
- 2 of 2 reported patients
- SchizencephalyHPOHP:0010636
- 2 of 2 reported patients
- Spastic tetraplegiaHPOHP:0002510
- 2 of 2 reported patients
- Subcortical heterotopiaHPOHP:0032391
- 2 of 2 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
Show the remaining 1
- VentriculomegalyHPOHP:0002119
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.
- COL4A2HGNC:2203
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Moderate · Ambry Genetics · Autosomal dominant · 2023
- Moderate · G2P · Autosomal dominant · 2022
Where it sits
Other names
4 names
Resolves to: brain small vessel disease 2A, autosomal dominant
- Also called
- brain small vessel disease 2COL4A2 porencephalyporencephaly 2porencephaly type 2