Cerebrooculofacioskeletal Syndrome 4 (COFS4)

Cerebrooculofacioskeletal Syndrome 4, also known as cofs4, is related to cerebrooculofacioskeletal syndrome 1 and cerebro-oculo-fascio-skeletal syndrome, and has symptoms including stiff limbs An important gene associated with Cerebrooculofacioskeletal Syndrome 4 is ERCC1 (ERCC Excision Repair 1, Endonuclease Non-Catalytic Subunit), and among its related pathways/superpathways is RNA Polymerase I Transcription Termination. Affiliated tissues include heart and eye, and related phenotypes are hyperreflexia and eeg abnormality