Clinical features
Mutations in MYO18B cause a distinctive multiple congenital anomaly syndrome called Klippel-Feil syndrome 4, an autosomal recessive disorder caused by biallelic pathogenic variants in MYO18B. It is commonly characterized by Klippel-Feil anomaly, nemaline myopathy, facial dysmorphism, and short stature.
Prevalence
The prevalence of MYO18B-related conditions cannot be ascertained with precision due to the limited number of cases identified to date.
Inheritance
MYO18B-related multiple congenital anomaly syndrome is inherited in an autosomal recessive manner.
MYO18B