Clinical feature
Megalencephaly with ribbon-like heterotopia is a neurodevelopmental disorder characterized by megalencephaly, intellectual disability, seizures, visual impairment and abnormal brain imaging consisting of ribbon-like subcortical heterotopia, polymicrogyria-like cortex, agenesis of the corpus callosum, and hydrocephalus/ enlarged ventricles. Not all individuals with a mutation in the EML1 gene have all these features.
Prevalence
This is likely to be a very rare disorder, its exact prevalence is unknown. Up till now 11 individuals from 7 families have been reported.
Inheritance
The inheritance of this disorder is autosomal recessive.
EML1