familial porencephaly

Findings

No curated finding names familial porencephaly yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

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

• cerebrovascular disorder
• hereditary neurological disease
• porencephaly

Narrower terms (7)

• brain small vessel disease 1 with or without ocular anomalies
• brain small vessel disease 2A, autosomal dominant
• brain small vessel disease 2B, autosomal recessive
• brain small vessel disease 3
• brain small vessel disease 4
• brain small vessel disease 5 with osteoporosis
• brain small vessel disease 6 with leukoencephalopathy

Resolves to: familial porencephaly

Also called

hereditary porencephaly