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Disease Porencephaly

Name Porencephaly
Synonyms ADT1P | Autosomal Dominant Porencephaly Type 1 | Congenital Porencephaly | Developmental Porencephaly | Encephaloclastic Porencephaly | Familial Porencephalic White Matter Disease | Familial Porencephaly | HEMIPLEGIA, INFANTILE, WITH PORENCEPHALY PORENCEPHALY, TYPE 1 | Infantile Hemiplegia with Porencephaly | POREN1 | POREN2 | Porencephalies | PORENCEPHALY 1 | PORENCEPHALY 2 | Porencephaly, Congenital | Porencephaly, Developmental | Porencephaly, Encephaloclastic | Porencephaly, Familial | Porencephaly, Post-traumatic | Porencephaly Type 1 | Porencephaly, Type 1 | Porencephaly, Type 1, Autosomal Dominant | Porencephaly Type 1s | Post traumatic Porencephaly | Post-traumatic Porencephaly | T1P | Type 1 Porencephaly
Definition 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.
Categories Congenital abnormality | Musculoskeletal disease | Nervous system disease
MeSH® ID D065708
OMIM® IDs 175780 | 614483
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1. DiseasesMusculoskeletal Diseases Has associated chemicals Has associated genes Has associated exposure references Musculoskeletal Abnormalities Has associated chemicals Has associated genes Has associated exposure references Craniofacial Abnormalities Has associated chemicals Has associated genes Has associated exposure references Microcephaly Has associated chemicals Has associated genes Porencephaly Has associated chemicals Has associated genes
2. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Nervous System Malformations Has associated chemicals Has associated genes Has associated exposure references Malformations of Cortical Development Has associated chemicals Has associated genes Malformations of Cortical Development, Group III Has associated chemicals Has associated genes Porencephaly Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Musculoskeletal Abnormalities Has associated chemicals Has associated genes Has associated exposure references Craniofacial Abnormalities Has associated chemicals Has associated genes Has associated exposure references Microcephaly Has associated chemicals Has associated genes Porencephaly Has associated chemicals Has associated genes
4. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Nervous System Malformations Has associated chemicals Has associated genes Has associated exposure references Malformations of Cortical Development Has associated chemicals Has associated genes Malformations of Cortical Development, Group III Has associated chemicals Has associated genes Porencephaly Has associated chemicals Has associated genes

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Porencephaly Has associated chemicals Has associated genes
  Porencephaly cerebellar hypoplasia malformations