Porencephaly
Cortical malformations characterized by white matter-lined cleft or cyst associated with ISCHEMIA and hemorrhagic insults. Symptoms include delayed growth and development, HYPOTONIA; SEIZURES; SPASTIC HEMIPLEGIA and MACROCEPHALY; MICROCEPHALY; or HYDROCEPHALUS. Mutations in the genes encoding COLLAGEN TYPE IV are associated with familial types.
Year introduced: 2015
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Tree Number(s): C05.660.207.620.500, C10.500.507.500.625, C16.131.621.207.620.500, C16.131.666.507.500.625
MeSH Unique ID: D065708
Entry Terms:
- Porencephalies
- Congenital Porencephaly
- Porencephaly, Congenital
- Developmental Porencephaly
- Porencephaly, Developmental
- Porencephaly, Type 1
- Type 1 Porencephaly
- Porencephaly, Familial
- Porencephaly, Type 1, Autosomal Dominant
- Autosomal Dominant Porencephaly Type 1
- Infantile Hemiplegia with Porencephaly
- Porencephaly Type 1
- Familial Porencephaly
- Familial Porencephalic White Matter Disease
- Retinal Arteriolar Tortuosity, Infantile Hemiparesis, and Leukoencephalopathy, Autosomal Dominant
- Col4a1-Related Brain Small-Vessel Disease
- Col4a1 Related Brain Small Vessel Disease
- Brain Small-Vessel Disease with Hemorrhage
- Brain Small Vessel Disease with Hemorrhage
- Leukoencephalopathy with Axenfeld-Rieger Anomaly
- Leukoencephalopathy with Axenfeld Rieger Anomaly
- Brain Small Vessel Disease With Axenfeld-Rieger Anomaly
- Brain Small Vessel Disease With Axenfeld Rieger Anomaly
- Encephaloclastic Porencephaly
- Porencephaly, Encephaloclastic
- Posttraumatic Porencephaly
- Porencephalies, Posttraumatic
- Porencephaly, Posttraumatic
- Posttraumatic Porencephalies
- Post-traumatic Porencephaly
- Porencephalies, Post-traumatic
- Porencephaly, Post-traumatic
- Post-traumatic Porencephalies
- Post traumatic Porencephaly
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