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Ontology Browser
Term:
Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome (DOID:9000950)
Annotations: Rat: (1) Mouse: (1) Human: (2) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1) Naked Mole-rat: (1) Green Monkey: (1)
Parent Terms Term With Siblings Child Terms
Asymmetric Polymicrogyria 
bilateral frontal polymicrogyria 
bilateral frontoparietal polymicrogyria  
bilateral generalized polymicrogyria 
bilateral parasagittal parieto-occipital polymicrogyria  
bilateral perisylvian polymicrogyria +   
FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH POLYMICROGYRIA AND SEIZURES  
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures  
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.
unilateral focal polymicrogyria 

Synonyms
Exact Synonyms: PMGEDSV ;   Polymicrogyria with or without vascular-type EDS
Narrow Synonyms: POLYMICROGYRIA WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME
Broad Synonyms: COL3A1-RELATED CONDITION
Primary IDs: MIM:618343
Definition Sources: MIM:618343

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