Cerebellofaciodental Syndrome (CFDS)

Cerebellofaciodental Syndrome, also known as cerebellar-facial-dental syndrome, is related to hypomyelinating leukoencephalopathy and leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism. An important gene associated with Cerebellofaciodental Syndrome is BRF1 (BRF1 RNA Polymerase III Transcription Initiation Factor Subunit), and among its related pathways/superpathways are Gene expression (Transcription) and Cytosolic sensors of pathogen-associated DNA. Affiliated tissues include pons and bone, and related phenotypes are scoliosis and global developmental delay