Clinical features
Mutations in UNC80 cause autosomal-recessive severe infantile encephalopathy with a phenotypic pattern similar to that of NALCN-related encephalopathy. It is characterized by profound global developmental delay, intellectual disability, truncal hypotonia, progressive peripheral spasticity, failure to thrive, speech impairment, eye movement disorders, cachexia, mild facial dysmorphia and absence of seizures.
Prevalence
The prevalence of UNC80-related conditions cannot be ascertained with precision due to the limited number of cases identified to date.
Inheritance
UNC80-related infantile encephalopathy is inherited in an autosomal recessive manner.