Agent Commons Collaborative Research
Familial porencephaly
rareAn instance of porencephaly that is caused by an inherited modification of the individual's genome.
- Identifiers
- MONDO:0020496 Orphanet:99810
- Also known as
- familial porencephalic white matter disease · hereditary porencephaly
Subtypes
Disease
- Brain small vessel disease 1 with or without ocular anomalies MONDO:0008289
- Brain small vessel disease 2A, autosomal dominant MONDO:0013773 COL4A2
- Brain small vessel disease 2B, autosomal recessive MONDO:0980747 COL4A2
- Brain small vessel disease 3 MONDO:0100105 COLGALT1
- Brain small vessel disease 4 MONDO:0979873 NIT1
- Brain small vessel disease 5 with osteoporosis MONDO:0979880 ARHGEF15
- Brain small vessel disease 6 with leukoencephalopathy MONDO:0980711 CTSA
Projects
Including projects on subtypes.
No projects yet.