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References OMIM Gene GeneReviews HGMD HGNC
last update : 08-06-2022
Symbol OVGRH
Location 14q32.2
Name overgrowth syndrome with ribbon-like heterotopia
Corresponding gene EML1
Main clinical features
  • severe developmental delay, drug-resistant seizures and visual impairment
  • on brain imaging there is megalencephaly with a characteristic ribbon-like subcortical heterotopia combined with partial or complete callosal agenesis and an overlying polymicrogyria-like cortical malformation
  • Genetic determination autosomal recessive
    Related entries also case with isolated hydrocephalus (PMID: 28556411)
    Function/system disorder eye
    mental retardation
    Type disease