Clinical features
Homozygous autosomal recessive mutations in the NECAP1 gene cause early infantile epileptic encephalopathy 21 (EIEE21), which is characterized by intractable seizures, global developmental delay, axial hypotonia, appendicular hypertonia, and brain atrophy.
Prevalence
The prevalence of NECAP1-related conditions cannot be ascertained with precision due to the limited number of cases identified to date.
Inheritance
NECAP1-related disorders are inherited in an autosomal recessive manner.