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Ontology Browser

Term:
Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome (DOID:9000950)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Asymmetric Polymicrogyria  
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures  
Perisylvian Syndrome +   
Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome  
An autosomal recessive disorder with a highly variable phenotype. Although all patients have polymicrogyria and other variable structural brain anomalies on imaging, only some show developmental delay and/or seizures.

Synonyms
Exact Synonyms: PMGEDSV ;   Polymicrogyria with or without vascular-type EDS
Narrow Synonyms: POLYMICROGYRIA WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME
Primary IDs: OMIM:618343
Definition Sources: OMIM:618343

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.