brain small vessel disease 1 with or without ocular anomalies

Findings

No curated finding names brain small vessel disease 1 with or without ocular anomalies yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

Autosomal dominant inheritance

Onset and course

Congenital onset · Infantile onset · Childhood onset

HPO, annotations 2026-09-02

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.

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.

Where it sits

A kind of

• COL4A1-related disorder
• familial porencephaly

Resolves to: brain small vessel disease 1 with or without ocular anomalies

Also called

ADT1Pbrain small vessel disease with axenfeld-rieger anomalybrain small vessel disease with haemorrhagebrain small vessel disease with hemorrhagebrain small vessel disease with or without ocular anomaliesBSVDBSVD1COL4A1 porencephalyCOL4A1-related brain small vessel disease with haemorrhagehemiplegia, infantile, with porencephalyleukoencephalopathy with axenfeld-rieger anomalyporencephaly 1porencephaly caused by mutation in COL4A1porencephaly type 1retinal arteriolar tortuosity, infantile hemiparesis, and leukoencephalopathy, autosomal dominant