Megalencephaly with ribbon-like heterotopia is caused by mutations in both copies of the EML1 gene. It is a neurodevelopmental disorder characterized by large head , intellectual disability, seizures, visual impairment and abnormal brain imaging.
The first two families affected by this disorder were described in 2014. Up till now 11 individuals from 7 families have been reported. It is likely to be a very rare disorder.
Inheritance
The inheritance of this disorder is autosomal recessive.
EML1