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GENATLAS PHENOTYPE

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
	neurology
Type	disease

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