Orofaciodigital Syndrome Type I

Disorder

• Name: Orofaciodigital Syndrome Type I
• Category: Mendelian
• Existing deep-research providers: falcon
• Existing evidence reference count in YAML: 32

Key Pathophysiology Nodes

• Primary Cilia Dysfunction
• Renal Cystogenesis
• Deep research literature mapping

Citation Inventory (for evidence mapping)

• DOI:10.1038/s41467-023-37340-z
• DOI:10.1080/15548627.2022.2067383
• DOI:10.1093/hmg/ddaa029
• DOI:10.1186/s12887-024-05304-x
• DOI:10.15252/embj.2020106503
• DOI:10.15252/embr.202154160
• DOI:10.3390/genes14020327