Clinical features
Mutations in the PTPN23 gene cause an autosomal recessive form of developmental and epileptic encephalopathy characterized by brain atrophy, global developmental delay, intractable seizures, and early death.
Prevalence
The prevalence of PTPN23-related conditions cannot be ascertained with precision due to the limited number of cases identified to date.
Inheritance
PTPN23-related disorders are inherited in an autosomal recessive manner.