Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism (KFS4)

Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism, is also known as klippel-feil anomaly-myopathy-facial dysmorphism syndrome. An important gene associated with Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism is MYO18B (Myosin XVIIIB). Affiliated tissues include bone, and related phenotypes are ptosis and microcephaly