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Nervous System Diseases > Nervous System Malformations > Malformations of Cortical Development > Malformations of Cortical Development, Group III > Porencephaly
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Nervous System Malformations > Malformations of Cortical Development > Malformations of Cortical Development, Group III > Porencephaly
Musculoskeletal Diseases > Musculoskeletal Abnormalities > Craniofacial Abnormalities > Microcephaly > Porencephaly
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Musculoskeletal Abnormalities > Craniofacial Abnormalities > Microcephaly > Porencephaly
... > Nervous System Diseases > Nervous System Malformations > Malformations of Cortical Development > Malformations of Cortical Development, Group I > Microcephaly > Porencephaly
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Nervous System Malformations > Malformations of Cortical Development > Malformations of Cortical Development, Group I > Microcephaly > Porencephaly

Terme préférentiel

Porencephaly  

Type

  • mesh:Descriptor

Définition

  • 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.

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URI

http://data.loterre.fr/ark:/67375/JVR-P1N90ZLL-R

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RDF/XML TURTLE JSON-LD Date de création 26/06/2014, dernière modification le 10/05/2021