Cerebellofaciodental Syndrome

About the Disease
Cerebellofaciodental Syndrome, also known as cerebellar-facial-dental syndrome, is related to polr3-related leukodystrophy and hypomyelinating leukoencephalopathy. 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, bone and skin, and related phenotypes are scoliosis and global developmental delay

Common Targets
BRF1

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