New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra.
Annelise Y Mah-SomCristina SkrypnykAndrea GuerinRaafat Hammad Seroor JadahVinayak Nivrutti VardhanRobert C McKinstryMarwan S ShinawiPublished in: Neurology. Genetics (2021)
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 SNAP29-related disorder.