New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra

Abstract

This cohort of 6 additional patients expands the genotypic and phenotypic spectrum of CEDNIK syndrome, highlighting previously under-recognized features such as hypomyelination, seizures, and early puberty. Owing to reduced penetrance of the skin phenotype, cerebral dysgenesis, and neuropathy, we propose renaming this syndrome <i>SNAP29</i>-related disorder.